Diseases of BONES.
A specialized CONNECTIVE TISSUE that is the main constituent of the SKELETON. The principle cellular component of bone is comprised of OSTEOBLASTS; OSTEOCYTES; and OSTEOCLASTS, while FIBRILLAR COLLAGENS and hydroxyapatite crystals form the BONE MATRIX.
The continuous turnover of BONE MATRIX and mineral that involves first an increase in BONE RESORPTION (osteoclastic activity) and later, reactive BONE FORMATION (osteoblastic activity). The process of bone remodeling takes place in the adult skeleton at discrete foci. The process ensures the mechanical integrity of the skeleton throughout life and plays an important role in calcium HOMEOSTASIS. An imbalance in the regulation of bone remodeling's two contrasting events, bone resorption and bone formation, results in many of the metabolic bone diseases, such as OSTEOPOROSIS.
Bone loss due to osteoclastic activity.
The amount of mineral per square centimeter of BONE. This is the definition used in clinical practice. Actual bone density would be expressed in grams per milliliter. It is most frequently measured by X-RAY ABSORPTIOMETRY or TOMOGRAPHY, X RAY COMPUTED. Bone density is an important predictor for OSTEOPOROSIS.
Decalcification of bone or abnormal bone development due to chronic KIDNEY DISEASES, in which 1,25-DIHYDROXYVITAMIN D3 synthesis by the kidneys is impaired, leading to reduced negative feedback on PARATHYROID HORMONE. The resulting SECONDARY HYPERPARATHYROIDISM eventually leads to bone disorders.
Tumors or cancer located in bone tissue or specific BONES.
Disorder caused by an interruption of the mineralization of organic bone matrix leading to bone softening, bone pain, and weakness. It is the adult form of rickets resulting from disruption of VITAMIN D; PHOSPHORUS; or CALCIUM homeostasis.
Organic compounds which contain P-C-P bonds, where P stands for phosphonates or phosphonic acids. These compounds affect calcium metabolism. They inhibit ectopic calcification and slow down bone resorption and bone turnover. Technetium complexes of diphosphonates have been used successfully as bone scanning agents.
The soft tissue filling the cavities of bones. Bone marrow exists in two types, yellow and red. Yellow marrow is found in the large cavities of large bones and consists mostly of fat cells and a few primitive blood cells. Red marrow is a hematopoietic tissue and is the site of production of erythrocytes and granular leukocytes. Bone marrow is made up of a framework of connective tissue containing branching fibers with the frame being filled with marrow cells.
Dissolution of bone that particularly involves the removal or loss of calcium.
A large multinuclear cell associated with the BONE RESORPTION. An odontoclast, also called cementoclast, is cytomorphologically the same as an osteoclast and is involved in CEMENTUM resorption.
The growth and development of bones from fetus to adult. It includes two principal mechanisms of bone growth: growth in length of long bones at the epiphyseal cartilages and growth in thickness by depositing new bone (OSTEOGENESIS) with the actions of OSTEOBLASTS and OSTEOCLASTS.
Cells contained in the bone marrow including fat cells (see ADIPOCYTES); STROMAL CELLS; MEGAKARYOCYTES; and the immediate precursors of most blood cells.
A malignancy of mature PLASMA CELLS engaging in monoclonal immunoglobulin production. It is characterized by hyperglobulinemia, excess Bence-Jones proteins (free monoclonal IMMUNOGLOBULIN LIGHT CHAINS) in the urine, skeletal destruction, bone pain, and fractures. Other features include ANEMIA; HYPERCALCEMIA; and RENAL INSUFFICIENCY.
A fibrous degeneration, cyst formation, and the presence of fibrous nodules in bone, usually due to HYPERPARATHYROIDISM.
Bone-forming cells which secrete an EXTRACELLULAR MATRIX. HYDROXYAPATITE crystals are then deposited into the matrix to form bone.
A polypeptide hormone (84 amino acid residues) secreted by the PARATHYROID GLANDS which performs the essential role of maintaining intracellular CALCIUM levels in the body. Parathyroid hormone increases intracellular calcium by promoting the release of CALCIUM from BONE, increases the intestinal absorption of calcium, increases the renal tubular reabsorption of calcium, and increases the renal excretion of phosphates.
Reduction of bone mass without alteration in the composition of bone, leading to fractures. Primary osteoporosis can be of two major types: postmenopausal osteoporosis (OSTEOPOROSIS, POSTMENOPAUSAL) and age-related or senile osteoporosis.
An enzyme that catalyzes the conversion of an orthophosphoric monoester and water to an alcohol and orthophosphate. EC
Breaks in bones.
Extracellular substance of bone tissue consisting of COLLAGEN fibers, ground substance, and inorganic crystalline minerals and salts.
A disease marked by repeated episodes of increased bone resorption followed by excessive attempts at repair, resulting in weakened, deformed bones of increased mass. The resultant architecture of the bone assumes a mosaic pattern in which the fibers take on a haphazard pattern instead of the normal parallel symmetry.
Syndromes of bone destruction where the cause is not obvious such as neoplasia, infection, or trauma. The destruction follows various patterns: massive (Gorham disease), multicentric (HAJDU-CHENEY SYNDROME), or carpal/tarsal.
The process of bone formation. Histogenesis of bone including ossification.
A metallic element that has the atomic number 13, atomic symbol Al, and atomic weight 26.98.
A transmembrane protein belonging to the tumor necrosis factor superfamily that specifically binds RECEPTOR ACTIVATOR OF NUCLEAR FACTOR-KAPPA B and OSTEOPROTEGERIN. It plays an important role in regulating OSTEOCLAST differentiation and activation.
Renewal or repair of lost bone tissue. It excludes BONY CALLUS formed after BONE FRACTURES but not yet replaced by hard bone.
The largest of three bones that make up each half of the pelvic girdle.
A condition of abnormally elevated output of PARATHYROID HORMONE (or PTH) triggering responses that increase blood CALCIUM. It is characterized by HYPERCALCEMIA and BONE RESORPTION, eventually leading to bone diseases. PRIMARY HYPERPARATHYROIDISM is caused by parathyroid HYPERPLASIA or PARATHYROID NEOPLASMS. SECONDARY HYPERPARATHYROIDISM is increased PTH secretion in response to HYPOCALCEMIA, usually caused by chronic KIDNEY DISEASES.
A secreted member of the TNF receptor superfamily that negatively regulates osteoclastogenesis. It is a soluble decoy receptor of RANK LIGAND that inhibits both CELL DIFFERENTIATION and function of OSTEOCLASTS by inhibiting the interaction between RANK LIGAND and RECEPTOR ACTIVATOR OF NUCLEAR FACTOR-KAPPA B.
A VITAMIN D that can be regarded as a reduction product of vitamin D2.
Abnormally elevated PARATHYROID HORMONE secretion as a response to HYPOCALCEMIA. It is caused by chronic KIDNEY FAILURE or other abnormalities in the controls of bone and mineral metabolism, leading to various BONE DISEASES, such as RENAL OSTEODYSTROPHY.
The transference of BONE MARROW from one human or animal to another for a variety of purposes including HEMATOPOIETIC STEM CELL TRANSPLANTATION or MESENCHYMAL STEM CELL TRANSPLANTATION.
Fractures occurring as a result of disease of a bone or from some undiscoverable cause, and not due to trauma. (Dorland, 27th ed)
The grafting of bone from a donor site to a recipient site.
Vitamin K-dependent calcium-binding protein synthesized by OSTEOBLASTS and found primarily in BONES. Serum osteocalcin measurements provide a noninvasive specific marker of bone metabolism. The protein contains three residues of the amino acid gamma-carboxyglutamic acid (Gla), which, in the presence of CALCIUM, promotes binding to HYDROXYAPATITE and subsequent accumulation in BONE MATRIX.
Mature osteoblasts that have become embedded in the BONE MATRIX. They occupy a small cavity, called lacuna, in the matrix and are connected to adjacent osteocytes via protoplasmic projections called canaliculi.
Diseases of the bones related to hyperfunction or hypofunction of the endocrine glands.
A non-metal element that has the atomic symbol P, atomic number 15, and atomic weight 31. It is an essential element that takes part in a broad variety of biochemical reactions.
Disorders caused by interruption of BONE MINERALIZATION manifesting as OSTEOMALACIA in adults and characteristic deformities in infancy and childhood due to disturbances in normal BONE FORMATION. The mineralization process may be interrupted by disruption of VITAMIN D; PHOSPHORUS; or CALCIUM homeostasis, resulting from dietary deficiencies, or acquired, or inherited metabolic, or hormonal disturbances.
Bone-growth regulatory factors that are members of the transforming growth factor-beta superfamily of proteins. They are synthesized as large precursor molecules which are cleaved by proteolytic enzymes. The active form can consist of a dimer of two identical proteins or a heterodimer of two related bone morphogenetic proteins.
Synthetic or natural materials for the replacement of bones or bone tissue. They include hard tissue replacement polymers, natural coral, hydroxyapatite, beta-tricalcium phosphate, and various other biomaterials. The bone substitutes as inert materials can be incorporated into surrounding tissue or gradually replaced by original tissue.
Abnormally high level of calcium in the blood.
Stable strontium atoms that have the same atomic number as the element strontium, but differ in the atomic weight. Sr-84, 86, 87, and 88 are the stable strontium isotopes.
The longest and largest bone of the skeleton, it is situated between the hip and the knee.
Death of a bone or part of a bone, either atraumatic or posttraumatic.
A gamma-emitting radionuclide imaging agent used primarily in skeletal scintigraphy. Because of its absorption by a variety of tumors, it is useful for the detection of neoplasms.
A diphosphonate which affects calcium metabolism. It inhibits bone resorption and soft tissue calcification.
A disease of bone marked by thinning of the cortex by fibrous tissue containing bony spicules, producing pain, disability, and gradually increasing deformity. Only one bone may be involved (FIBROUS DYSPLASIA, MONOSTOTIC) or several (FIBROUS DYSPLASIA, POLYOSTOTIC).
Excessive formation of dense trabecular bone leading to pathological fractures; OSTEITIS; SPLENOMEGALY with infarct; ANEMIA; and extramedullary hemopoiesis (HEMATOPOIESIS, EXTRAMEDULLARY).
Process by which organic tissue becomes hardened by the physiologic deposit of calcium salts.
A tumor necrosis factor receptor family member that is specific for RANK LIGAND and plays a role in bone homeostasis by regulating osteoclastogenesis. It is also expressed on DENDRITIC CELLS where it plays a role in regulating dendritic cell survival. Signaling by the activated receptor occurs through its association with TNF RECEPTOR-ASSOCIATED FACTORS.
The second longest bone of the skeleton. It is located on the medial side of the lower leg, articulating with the FIBULA laterally, the TALUS distally, and the FEMUR proximally.
A noninvasive method for assessing BODY COMPOSITION. It is based on the differential absorption of X-RAYS (or GAMMA RAYS) by different tissues such as bone, fat and other soft tissues. The source of (X-ray or gamma-ray) photon beam is generated either from radioisotopes such as GADOLINIUM 153, IODINE 125, or Americanium 241 which emit GAMMA RAYS in the appropriate range; or from an X-ray tube which produces X-RAYS in the desired range. It is primarily used for quantitating BONE MINERAL CONTENT, especially for the diagnosis of OSTEOPOROSIS, and also in measuring BONE MINERALIZATION.
A diphosphonate which affects calcium metabolism. It inhibits ectopic calcification and slows down bone resorption and bone turnover.
Therapy for the insufficient cleansing of the BLOOD by the kidneys based on dialysis and including hemodialysis, PERITONEAL DIALYSIS, and HEMODIAFILTRATION.
Disorders in the processing of calcium in the body: its absorption, transport, storage, and utilization.
A potent osteoinductive protein that plays a critical role in the differentiation of osteoprogenitor cells into OSTEOBLASTS.
Native, inorganic or fossilized organic substances having a definite chemical composition and formed by inorganic reactions. They may occur as individual crystals or may be disseminated in some other mineral or rock. (Grant & Hackh's Chemical Dictionary, 5th ed; McGraw-Hill Dictionary of Scientific and Technical Terms, 4th ed)
The end-stage of CHRONIC RENAL INSUFFICIENCY. It is characterized by the severe irreversible kidney damage (as measured by the level of PROTEINURIA) and the reduction in GLOMERULAR FILTRATION RATE to less than 15 ml per min (Kidney Foundation: Kidney Disease Outcome Quality Initiative, 2002). These patients generally require HEMODIALYSIS or KIDNEY TRANSPLANTATION.
Bones that constitute each half of the pelvic girdle in VERTEBRATES, formed by fusion of the ILIUM; ISCHIUM; and PUBIC BONE.
A powder that dissolves in water, which is administered orally, and is used as a diuretic, expectorant, systemic alkalizer, and electrolyte replenisher.
An abnormal hardening or increased density of bone tissue.
Either of a pair of compound bones forming the lateral (left and right) surfaces and base of the skull which contains the organs of hearing. It is a large bone formed by the fusion of parts: the squamous (the flattened anterior-superior part), the tympanic (the curved anterior-inferior part), the mastoid (the irregular posterior portion), and the petrous (the part at the base of the skull).
Hydroxy analogs of vitamin D 3; (CHOLECALCIFEROL); including CALCIFEDIOL; CALCITRIOL; and 24,25-DIHYDROXYVITAMIN D 3.
Progressive restriction of the developmental potential and increasing specialization of function that leads to the formation of specialized cells, tissues, and organs.
A basic element found in nearly all organized tissues. It is a member of the alkaline earth family of metals with the atomic symbol Ca, atomic number 20, and atomic weight 40. Calcium is the most abundant mineral in the body and combines with phosphorus to form calcium phosphate in the bones and teeth. It is essential for the normal functioning of nerves and muscles and plays a role in blood coagulation (as factor IV) and in many enzymatic processes.
A clinical syndrome associated with the retention of renal waste products or uremic toxins in the blood. It is usually the result of RENAL INSUFFICIENCY. Most uremic toxins are end products of protein or nitrogen CATABOLISM, such as UREA or CREATININE. Severe uremia can lead to multiple organ dysfunctions with a constellation of symptoms.
A vitamin that includes both CHOLECALCIFEROLS and ERGOCALCIFEROLS, which have the common effect of preventing or curing RICKETS in animals. It can also be viewed as a hormone since it can be formed in SKIN by action of ULTRAVIOLET RAYS upon the precursors, 7-dehydrocholesterol and ERGOSTEROL, and acts on VITAMIN D RECEPTORS to regulate CALCIUM in opposition to PARATHYROID HORMONE.
The most common form of fibrillar collagen. It is a major constituent of bone (BONE AND BONES) and SKIN and consists of a heterotrimer of two alpha1(I) and one alpha2(I) chains.
X-RAY COMPUTERIZED TOMOGRAPHY with resolution in the micrometer range.
The SKELETON of the HEAD including the FACIAL BONES and the bones enclosing the BRAIN.
One of a pair of irregularly shaped quadrilateral bones situated between the FRONTAL BONE and OCCIPITAL BONE, which together form the sides of the CRANIUM.
Bone diseases caused by pathogenic microorganisms.
COLLAGEN DISEASES characterized by brittle, osteoporotic, and easily fractured bones. It may also present with blue sclerae, loose joints, and imperfect dentin formation. Most types are autosomal dominant and are associated with mutations in COLLAGEN TYPE I.
Inorganic compounds that contain TECHNETIUM as an integral part of the molecule. Technetium 99m (m=metastable) is an isotope of technetium that has a half-life of about 6 hours. Technetium 99, which has a half-life of 210,000 years, is a decay product of technetium 99m.
A nonhormonal medication for the treatment of postmenopausal osteoporosis in women. This drug builds healthy bone, restoring some of the bone loss as a result of osteoporosis.
Carbonic acid calcium salt (CaCO3). An odorless, tasteless powder or crystal that occurs in nature. It is used therapeutically as a phosphate buffer in hemodialysis patients and as a calcium supplement.
Resorption or wasting of the tooth-supporting bone (ALVEOLAR PROCESS) in the MAXILLA or MANDIBLE.
Adhesives used to fix prosthetic devices to bones and to cement bone to bone in difficult fractures. Synthetic resins are commonly used as cements. A mixture of monocalcium phosphate, monohydrate, alpha-tricalcium phosphate, and calcium carbonate with a sodium phosphate solution is also a useful bone paste.
Measurable and quantifiable biological parameters (e.g., specific enzyme concentration, specific hormone concentration, specific gene phenotype distribution in a population, presence of biological substances) which serve as indices for health- and physiology-related assessments, such as disease risk, psychiatric disorders, environmental exposure and its effects, disease diagnosis, metabolic processes, substance abuse, pregnancy, cell line development, epidemiologic studies, etc.
Derivatives of ERGOSTEROL formed by ULTRAVIOLET RAYS breaking of the C9-C10 bond. They differ from CHOLECALCIFEROL in having a double bond between C22 and C23 and a methyl group at C24.
Metabolic disorder associated with fractures of the femoral neck, vertebrae, and distal forearm. It occurs commonly in women within 15-20 years after menopause, and is caused by factors associated with menopause including estrogen deficiency.
A coronary vasodilator agent.
A circular structural unit of bone tissue. It consists of a central hole, the Haversian canal through which blood vessels run, surrounded by concentric rings, called lamellae.
Benign unilocular lytic areas in the proximal end of a long bone with well defined and narrow endosteal margins. The cysts contain fluid and the cyst walls may contain some giant cells. Bone cysts usually occur in males between the ages 3-15 years.
A condition of an abnormally low level of PHOSPHATES in the blood.
Inorganic salts of phosphoric acid.
Two pairs of small oval-shaped glands located in the front and the base of the NECK and adjacent to the two lobes of THYROID GLAND. They secrete PARATHYROID HORMONE that regulates the balance of CALCIUM; PHOSPHORUS; and MAGNESIUM in the body.
The physiologically active form of vitamin D. It is formed primarily in the kidney by enzymatic hydroxylation of 25-hydroxycholecalciferol (CALCIFEDIOL). Its production is stimulated by low blood calcium levels and parathyroid hormone. Calcitriol increases intestinal absorption of calcium and phosphorus, and in concert with parathyroid hormone increases bone resorption.
Compounds containing 1,3-diazole, a five membered aromatic ring containing two nitrogen atoms separated by one of the carbons. Chemically reduced ones include IMIDAZOLINES and IMIDAZOLIDINES. Distinguish from 1,2-diazole (PYRAZOLES).
AMINO ACIDS composed of GLYCINE substituted at the nitrogen rather than the usual carbon position, resulting in the loss of HYDROGEN BONDING donors. Polymers of these compounds are called PEPTOIDS.
A non-hereditary KIDNEY disorder characterized by the abnormally dilated (ECTASIA) medullary and inner papillary portions of the collecting ducts. These collecting ducts usually contain CYSTS or DIVERTICULA filled with jelly-like material or small calculi (KIDNEY STONES) leading to infections or obstruction. It should be distinguished from congenital or hereditary POLYCYSTIC KIDNEY DISEASES.
Formation of stones in the KIDNEY.
Reduction of the blood calcium below normal. Manifestations include hyperactive deep tendon reflexes, Chvostek's sign, muscle and abdominal cramps, and carpopedal spasm. (Dorland, 27th ed)
Bone-marrow-derived, non-hematopoietic cells that support HEMATOPOETIC STEM CELLS. They have also been isolated from other organs and tissues such as UMBILICAL CORD BLOOD, umbilical vein subendothelium, and WHARTON JELLY. These cells are considered to be a source of multipotent stem cells because they include subpopulations of mesenchymal stem cells.
Removal and pathologic examination of specimens in the form of small pieces of tissue from the living body.
Conditions characterized by the presence of M protein (Monoclonal protein) in serum or urine without clinical manifestations of plasma cell dyscrasia.
The spinal or vertebral column.
Excision of one or more of the parathyroid glands.
Cells propagated in vitro in special media conducive to their growth. Cultured cells are used to study developmental, morphologic, metabolic, physiologic, and genetic processes, among others.
The bone that forms the frontal aspect of the skull. Its flat part forms the forehead, articulating inferiorly with the NASAL BONE and the CHEEK BONE on each side of the face.
A transcription factor that dimerizes with CORE BINDING FACTOR BETA SUBUNIT to form core binding factor. It contains a highly conserved DNA-binding domain known as the runt domain and is involved in genetic regulation of skeletal development and CELL DIFFERENTIATION.
An enzyme that catalyzes the conversion of an orthophosphoric monoester and water to an alcohol and orthophosphate. EC
A bone morphogenetic protein that is widely expressed during EMBRYONIC DEVELOPMENT. It is both a potent osteogenic factor and a specific regulator of nephrogenesis.
Naturally occurring or experimentally induced animal diseases with pathological processes sufficiently similar to those of human diseases. They are used as study models for human diseases.
Calcium compounds used as food supplements or in food to supply the body with calcium. Dietary calcium is needed during growth for bone development and for maintenance of skeletal integrity later in life to prevent osteoporosis.
The production of an image obtained by cameras that detect the radioactive emissions of an injected radionuclide as it has distributed differentially throughout tissues in the body. The image obtained from a moving detector is called a scan, while the image obtained from a stationary camera device is called a scintiphotograph.
VERTEBRAE in the region of the lower BACK below the THORACIC VERTEBRAE and above the SACRAL VERTEBRAE.
A condition of abnormally high level of PHOSPHATES in the blood, usually significantly above the normal range of 0.84-1.58 mmol per liter of serum.
Disorders in the processing of phosphorus in the body: its absorption, transport, storage, and utilization.
Elements of limited time intervals, contributing to particular results or situations.
Tomography using x-ray transmission and a computer algorithm to reconstruct the image.
A membrane-bound metalloendopeptidase that may play a role in the degradation or activation of a variety of PEPTIDE HORMONES and INTERCELLULAR SIGNALING PEPTIDES AND PROTEINS. Genetic mutations that result in loss of function of this protein are a cause of HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT.
Local surroundings with which cells interact by processing various chemical and physical signals, and by contributing their own effects to this environment.
A cysteine protease that is highly expressed in OSTEOCLASTS and plays an essential role in BONE RESORPTION as a potent EXTRACELLULAR MATRIX-degrading enzyme.
Pathologic deposition of calcium salts in tissues.
Cell surface receptors that bind TUMOR NECROSIS FACTORS and trigger changes which influence the behavior of cells.
A dye which inhibits protein biosynthesis at the initial stages. The ammonium salt (aluminon) is a reagent for the colorimetric estimation of aluminum in water, foods, and tissues.
A condition of abnormally elevated output of PARATHYROID HORMONE due to parathyroid HYPERPLASIA or PARATHYROID NEOPLASMS. It is characterized by the combination of HYPERCALCEMIA, phosphaturia, elevated renal 1,25-DIHYDROXYVITAMIN D3 synthesis, and increased BONE RESORPTION.
The bones of the free part of the lower extremity in humans and of any of the four extremities in animals. It includes the FEMUR; PATELLA; TIBIA; and FIBULA.
A group of genetic disorders of the KIDNEY TUBULES characterized by the accumulation of metabolically produced acids with elevated plasma chloride, hyperchloremic metabolic ACIDOSIS. Defective renal acidification of URINE (proximal tubules) or low renal acid excretion (distal tubules) can lead to complications such as HYPOKALEMIA, hypercalcinuria with NEPHROLITHIASIS and NEPHROCALCINOSIS, and RICKETS.
Neoplasms located in the bone marrow. They are differentiated from neoplasms composed of bone marrow cells, such as MULTIPLE MYELOMA. Most bone marrow neoplasms are metastatic.
Removal of bone marrow and evaluation of its histologic picture.
Fractures of the femur.
The five cylindrical bones of the METACARPUS, articulating with the CARPAL BONES proximally and the PHALANGES OF FINGERS distally.
Inorganic or organic compounds that contain the basic structure RB(OH)2.
A nutritional condition produced by a deficiency of VITAMIN D in the diet, insufficient production of vitamin D in the skin, inadequate absorption of vitamin D from the diet, or abnormal conversion of vitamin D to its bioactive metabolites. It is manifested clinically as RICKETS in children and OSTEOMALACIA in adults. (From Cecil Textbook of Medicine, 19th ed, p1406)
Evaluation undertaken to assess the results or consequences of management and procedures used in combating disease in order to determine the efficacy, effectiveness, safety, and practicability of these interventions in individual cases or series.
A genetic metabolic disorder resulting from serum and bone alkaline phosphatase deficiency leading to hypercalcemia, ethanolamine phosphatemia, and ethanolamine phosphaturia. Clinical manifestations include severe skeletal defects resembling vitamin D-resistant rickets, failure of the calvarium to calcify, dyspnea, cyanosis, vomiting, constipation, renal calcinosis, failure to thrive, disorders of movement, beading of the costochondral junction, and rachitic bone changes. (From Dorland, 27th ed)
A bone morphogenetic protein that is a potent inducer of bone formation. It also functions as a regulator of MESODERM formation during EMBRYONIC DEVELOPMENT.
Tumors or cancer of the human BREAST.
The five long bones of the METATARSUS, articulating with the TARSAL BONES proximally and the PHALANGES OF TOES distally.
A polypeptide substance comprising about one third of the total protein in mammalian organisms. It is the main constituent of SKIN; CONNECTIVE TISSUE; and the organic substance of bones (BONE AND BONES) and teeth (TOOTH).
The seven bones which form the tarsus - namely, CALCANEUS; TALUS; cuboid, navicular, and the internal, middle, and external cuneiforms.
Intracellular receptors that can be found in the cytoplasm or in the nucleus. They bind to extracellular signaling molecules that migrate through or are transported across the CELL MEMBRANE. Many members of this class of receptors occur in the cytoplasm and are transported to the CELL NUCLEUS upon ligand-binding where they signal via DNA-binding and transcription regulation. Also included in this category are receptors found on INTRACELLULAR MEMBRANES that act via mechanisms similar to CELL SURFACE RECEPTORS.
CCR receptors with specificity for a broad variety of CC CHEMOKINES. They are expressed at high levels in MONOCYTES; tissue MACROPHAGES; NEUTROPHILS; and EOSINOPHILS.
A ubiquitously expressed, secreted protein with bone resorption and renal calcium reabsorption activities that are similar to PARATHYROID HORMONE. It does not circulate in appreciable amounts in normal subjects, but rather exerts its biological actions locally. Overexpression of parathyroid hormone-related protein by tumor cells results in humoral calcemia of malignancy.
Cholecalciferols substituted with two hydroxy groups in any position.
The first artificially produced element and a radioactive fission product of URANIUM. Technetium has the atomic symbol Tc, atomic number 43, and atomic weight 98.91. All technetium isotopes are radioactive. Technetium 99m (m=metastable) which is the decay product of Molybdenum 99, has a half-life of about 6 hours and is used diagnostically as a radioactive imaging agent. Technetium 99 which is a decay product of technetium 99m, has a half-life of 210,000 years.
Conjugated protein-carbohydrate compounds including mucins, mucoid, and amyloid glycoproteins.
An unpleasant sensation induced by noxious stimuli which are detected by NERVE ENDINGS of NOCICEPTIVE NEURONS.
Removal of mineral constituents or salts from bone or bone tissue. Demineralization is used as a method of studying bone strength and bone chemistry.
The TARSAL BONES; METATARSAL BONES; and PHALANGES OF TOES. The tarsal bones consists of seven bones: CALCANEUS; TALUS; cuboid; navicular; internal; middle; and external cuneiform bones. The five metatarsal bones are numbered one through five, running medial to lateral. There are 14 phalanges in each foot, the great toe has two while the other toes have three each.
Tumors or cancer of the PROSTATE.
LDL-receptor related protein that combines with FRIZZLED RECEPTORS at the cell surface to form receptors that bind WNT PROTEINS. The protein plays an important role in the WNT SIGNALING PATHWAY in OSTEOBLASTS and during EMBRYONIC DEVELOPMENT.
An inherited condition of abnormally low serum levels of PHOSPHATES (below 1 mg/liter) which can occur in a number of genetic diseases with defective reabsorption of inorganic phosphorus by the PROXIMAL RENAL TUBULES. This leads to phosphaturia, HYPOPHOSPHATEMIA, and disturbances of cellular and organ functions such as those in X-LINKED HYPOPHOSPHATEMIC RICKETS; OSTEOMALACIA; and FANCONI SYNDROME.
Studies used to test etiologic hypotheses in which inferences about an exposure to putative causal factors are derived from data relating to characteristics of persons under study or to events or experiences in their past. The essential feature is that some of the persons under study have the disease or outcome of interest and their characteristics are compared with those of unaffected persons.
Mice homozygous for the mutant autosomal recessive gene "scid" which is located on the centromeric end of chromosome 16. These mice lack mature, functional lymphocytes and are thus highly susceptible to lethal opportunistic infections if not chronically treated with antibiotics. The lack of B- and T-cell immunity resembles severe combined immunodeficiency (SCID) syndrome in human infants. SCID mice are useful as animal models since they are receptive to implantation of a human immune system producing SCID-human (SCID-hu) hematochimeric mice.
The outer shorter of the two bones of the FOREARM, lying parallel to the ULNA and partially revolving around it.
A surgical specialty which utilizes medical, surgical, and physical methods to treat and correct deformities, diseases, and injuries to the skeletal system, its articulations, and associated structures.
A biosynthetic precursor of collagen containing additional amino acid sequences at the amino-terminal and carboxyl-terminal ends of the polypeptide chains.
Fibrous blood-filled cyst in the bone. Although benign it can be destructive causing deformity and fractures.
Conditions in which the KIDNEYS perform below the normal level for more than three months. Chronic kidney insufficiency is classified by five stages according to the decline in GLOMERULAR FILTRATION RATE and the degree of kidney damage (as measured by the level of PROTEINURIA). The most severe form is the end-stage renal disease (CHRONIC KIDNEY FAILURE). (Kidney Foundation: Kidney Disease Outcome Quality Initiative, 2002)
Strains of mice in which certain GENES of their GENOMES have been disrupted, or "knocked-out". To produce knockouts, using RECOMBINANT DNA technology, the normal DNA sequence of the gene being studied is altered to prevent synthesis of a normal gene product. Cloned cells in which this DNA alteration is successful are then injected into mouse EMBRYOS to produce chimeric mice. The chimeric mice are then bred to yield a strain in which all the cells of the mouse contain the disrupted gene. Knockout mice are used as EXPERIMENTAL ANIMAL MODELS for diseases (DISEASE MODELS, ANIMAL) and to clarify the functions of the genes.
Derivative of 7-dehydroxycholesterol formed by ULTRAVIOLET RAYS breaking of the C9-C10 bond. It differs from ERGOCALCIFEROL in having a single bond between C22 and C23 and lacking a methyl group at C24.
The giving of drugs, chemicals, or other substances by mouth.
The surgical removal of one or both ovaries.
A hydroxylated form of the imino acid proline. A deficiency in ASCORBIC ACID can result in impaired hydroxyproline formation.
A bone morphogenetic protein that is a potent inducer of BONE formation. It plays additional roles in regulating CELL DIFFERENTIATION of non-osteoblastic cell types and epithelial-mesenchymal interactions.
The major circulating metabolite of VITAMIN D3. It is produced in the LIVER and is the best indicator of the body's vitamin D stores. It is effective in the treatment of RICKETS and OSTEOMALACIA, both in azotemic and non-azotemic patients. Calcifediol also has mineralizing properties.
Progenitor cells from which all blood cells derive.
Presence of calcium salts, especially calcium pyrophosphate, in the cartilaginous structures of one or more joints. When accompanied by attacks of goutlike symptoms, it is called pseudogout. (Dorland, 27th ed)
The transfer of a neoplasm from one organ or part of the body to another remote from the primary site.
Implantable fracture fixation devices attached to bone fragments with screws to bridge the fracture gap and shield the fracture site from stress as bone heals. (UMDNS, 1999)
The growth action of bone tissue as it assimilates surgically implanted devices or prostheses to be used as either replacement parts (e.g., hip) or as anchors (e.g., endosseous dental implants).
Thin outer membrane that surrounds a bone. It contains CONNECTIVE TISSUE, CAPILLARIES, nerves, and a number of cell types.
A mononuclear phagocyte colony-stimulating factor (M-CSF) synthesized by mesenchymal cells. The compound stimulates the survival, proliferation, and differentiation of hematopoietic cells of the monocyte-macrophage series. M-CSF is a disulfide-bonded glycoprotein dimer with a MW of 70 kDa. It binds to a specific high affinity receptor (RECEPTOR, MACROPHAGE COLONY-STIMULATING FACTOR).

Family study of inherited syndrome with multiple congenital deformities: symphalangism, carpal and tarsal fusion, brachydactyly, craniosynostosis, strabismus, hip osteochondritis. (1/360)

A syndrome of brachydactyly (absence of some middle or distal phalanges), aplastic or hypoplastic nails, symphalangism (ankylois of proximal interphalangeal joints), synostosis of some carpal and tarsal bones, craniosynostosis, and dysplastic hip joints is reported in five members of an Italian family. It may represent a previously undescribed autosomal dominant trait.  (+info)

Diaphyseal medullary stenosis with malignant fibrous histiocytoma: a hereditary bone dysplasia/cancer syndrome maps to 9p21-22. (2/360)

Diaphyseal medullary stenosis with malignant fibrous histiocytoma (DMS-MFH) is an autosomal dominant bone dysplasia/cancer syndrome of unknown etiology. This rare hereditary cancer syndrome is characterized by bone infarctions, cortical growth abnormalities, pathological fractures, and eventual painful debilitation. Notably, 35% of individuals with DMS develop MFH, a highly malignant bone sarcoma. A genome scan for the DMS-MFH gene locus in three unrelated families with DMS-MFH linked the syndrome to a region of approximately 3 cM on chromosome 9p21-22, with a maximal two-point LOD score of 5.49 (marker D9S171 at recombination fraction [theta].05). Interestingly, this region had previously been shown to be the site of chromosomal abnormalities in several other malignancies and contains a number of genes whose protein products are involved in growth regulation. Identification of this rare familial sarcoma-causing gene would be expected to simultaneously define the cause of the more common nonfamilial, or sporadic, form of MFH-a tumor that constitutes approximately 6% of all bone cancers and is the most frequently occurring adult soft-tissue sarcoma.  (+info)

Juvenile nephronophthisis associated with retinal pigmentary dystrophy, cerebellar ataxia, and skeletal abnormalities. (3/360)

A boy aged 9 3/4 years with interstitial nephritis, retinal pigmentary dystrophy, cerebellar ataxia, and skeletal abnormalities is described. The association may be due to a new genetic disorder, since 2 similar cases have been reported.  (+info)

Ultrasound screening for hips at risk in developmental dysplasia. Is it worth it? (4/360)

Between May 1992 and April 1997, there were 20,452 births in the Blackburn District. In the same period 1107 infants with hip 'at-risk' factors were screened prospectively by ultrasound. We recorded the presence of dislocation and dysplasia detected under the age of six months using Graf's alpha angle. Early dislocation was present in 36 hips (34 dislocatable and 2 irreducible). Of the 36 unstable hips, 30 (83%) were referred as being Ortolani-positive or unstable; 25 (69%) of these had at least one of the risk factors. Only 11 (31%) were identified from the 'at-risk' screening programme alone (0.54 per 1000 live births). Eight cases of 'late' dislocation presented after the age of six months (0.39 per 1000 live births). The overall rate of dislocation was 2.2 per 1000 live births. Only 31% of the dislocated hips belonged to a major 'at-risk' group. Statistical analysis confirmed that the risk factors had a relatively poor predictive value if used as a screening test for dislocation. In infants referred for doubtful clinical instability, one dislocation was detected for every 11 infants screened (95% confidence interval (CI) 8 to 17) whereas in infants referred because of the presence of any of the major 'at-risk' factors the rate was one in 75 (95% CI 42 to 149). Routine ultrasound screening of the 'at-risk' groups on their own is of little value in significantly reducing the rate of 'late' dislocation in DDH, but screening clinically unstable hips alone or associated with 'at-risk' factors has a high rate of detection.  (+info)

Localization of the gene for sclerosteosis to the van Buchem disease-gene region on chromosome 17q12-q21. (5/360)

Sclerosteosis is an uncommon, autosomal recessive, progressive, sclerosing, bone dysplasia characterized by generalized osteosclerosis and hyperostosis of the skeleton, affecting mainly the skull and mandible. In most patients this causes facial paralysis and hearing loss. Other features are gigantism and hand abnormalities. In the present study, linkage analysis in two consanguineous families with sclerosteosis resulted in the assignment of the sclerosteosis gene to chromosome 17q12-q21. This region was analyzed because of the recent assignment to this chromosomal region of the gene causing van Buchem disease, a rare autosomal recessive condition with a hyperostosis similar to sclerosteosis. Because of the clinical similarities between sclerosteosis and van Buchem disease, it has previously been suggested that both conditions might be caused by mutations in the same gene. Our study now provides genetic evidence for this hypothesis.  (+info)

Identification of the Finnish founder mutation for diastrophic dysplasia (DTD). (6/360)

Diastrophic dysplasia (DTD) is especially prevalent in Finland and the existence of a founder mutation has been previously inferred from the fact that 95% of Finnish DTD chromosomes have a rare ancestral haplotype found in only 4% of Finnish control chromosomes. Here we report the identification of the Finnish founder mutation as a GT-> GC transition (c.-26 + 2T > C) in the splice donor site of a previously undescribed 5'-untranslated exon of the diastrophic dysplasia sulfate transporter gene (DTDST); the mutation acts by severely reducing mRNA levels. Among 84 DTD families in Finland, patients carried two copies of the mutation in 69 families, one copy in 14 families, and no copies in one family. Roughly 90% of Finnish DTD chromosomes thus carry the splice-site mutation, which we have designated DTDST(Fin). Unexpectedly, we found that nine of the DTD chromosomes having the apparently ancestral haplotype did not carry DTDST(Fin), but rather two other mutations. Eight such chromosomes had an R279W mutation and one had a V340del deletion. We consider the possible implications of presence of multiple DTD mutations on this rare haplotype.  (+info)

Terminal osseous dysplasia with pigmentary defects maps to human chromosome Xq27.3-xqter. (7/360)

We have identified a four-generation family with 10 affected females manifesting one or more of the following features: osseous dysplasia involving the metacarpals, metatarsals, and phalanges leading to brachydactyly, camptodactyly, and other digital deformities; pigmentary defects on the face and scalp; and multiple frenula. There were no affected males. We performed X-inactivation studies on seven affected females, using a methylation assay at the androgen receptor locus; all seven demonstrated preferential inactivation of their maternal chromosomes carrying the mutation, and two unaffected females showed a random pattern. These findings indicate that this disorder is linked to the X chromosome. To map the gene for this disorder, we analyzed DNA from nine affected females and five unaffected individuals, using 40 polymorphic markers evenly distributed throughout the X chromosome. Two-point and multipoint linkage analyses using informative markers excluded most of the X chromosome and demonstrated linkage to a region on the long arm between DXS548 and Xqter. A maximum LOD score of 3.16 at recombination fraction 0 was obtained for five markers mapping to Xq27.3-Xq28. The mapping data should facilitate the identification of the molecular basis of this disorder.  (+info)

Effects of massive doses of ergocalciferol plus cholesterol on pregnant rats and their offspring. (8/360)

Ergocalciferol (320,000 or 480,000 IU/kg) plus cholesterol (60 mg/kg) in olive oil solution was administered daily on 1, 2, or 4 consecutive days to pregnant rats from 9,10, 14, or 18 of gestation. The control animals received only olive oil. Disseminated lesions of metastic calcinosis were found in various tissues, in the coronary arteries and myocardium, in the media of the abnormal aorta, in the lung and pleura, in the gastoinstestinal tract, and in the kidney. This is in contrast to the atherosclerosis described in nonpregnant rats fed a similiar diet. A significant decline in maternal weight as well as a high rate of morbidity and mortality was observed. In mothers killed on day 22 of pregnancy, fetal and placental growths appeared significantly retarded suggesting a direct effect of the steroid or its more active metabolite, 1,25-dihydroxycholecalciferol, on the fetus or the trophoblastic tissue. Fetal bone lesionsassociated with a generalized retardation of ossification, placental edema, or calcification accompanied by a loss of the normal structure of the placenta and degenerative manifestation at this level were observed. Moreover, we noted a striking alteration of the fetal face in 33-39% of experimental fetuses, called by us carnival fetuses.  (+info)

Synonyms for canine hypertrophic osteodystrophy in Free Thesaurus. Antonyms for canine hypertrophic osteodystrophy. 7 synonyms for canine: canine tooth, cuspid, eye tooth, eyetooth, dogtooth, canid, laniary. What are synonyms for canine hypertrophic osteodystrophy?
Connective Tissue Gene Tests Osteopetrosis and Dense bone dysplasia NGS panel consists of twenty-eight genes associated with increased bone density. The panel includes both autosomal dominant and autosomal recessive forms of osteopetrosis and dense bone dysplasias.. The Osteopetrosis and Dense bone dysplasia panel consists of twenty-eight genes: AMER1, ANKH, CA2, CLCN7, COL1A1, CTSK, DLX3, FAM20C, FERMT3, GJA1, HPGD, LEMD3, LRP4, LRP5, MTAP, OSTM1, PLEKHM1, PTDSS1, SLCO2A1, SNX10, SOST, TBXAS1, TCIRG1, TGFB1, TNFRSF11A, TNFRSF11B, TNFSF11, TYROBP.. Copy number variation (CNV) analysis of the Osteopetrosis and Dense bone dysplasia genes is also offered as a panel. Additionally, CTGT offers a comprehensive test (both NGS and CNV panels) for these genes. Panel genes are also offered as individual sequencing and deletion/duplication tests unless otherwise indicated.. ...
Looking for information on Dog Hypertrophic Osteodystrophy (HOD) in Austin? We have compiled a list of businesses and services around Austin that should help you with your search. We hope this page helps you find information on Dog Hypertrophic Osteodystrophy (HOD) in Austin.
MODEL RELEASED. Bent bone dysplasia. A two year old boy with bent bone dysplasia syndrome, a non-inherited disorder of the skeleton, seen with his mother. The cause of the syndrome is a mutation of the Fibroplast Growth Factor Receptor 2 (FGRF2) gene. The syndrome manifests with premature fusion of skull fissures (craniosynostosis), dysmorphic facial features and bent long bones due to poor mineralisation and changes to the chondrocytes that form cartillage. The condition is usually associated with extreme respiratory problems, an excessively large tongue and swallowing difficulty. This child has a tracheostomy to help him breathe. Bent bone displasia syndrome is extremely rare, with just a few cases known worldwide - Stock Image C021/9117
Hypertrophic Osteodystrophy (HOD) is a bone disease that occurs in fast-growing large and giant breed dogs. The disorder is sometimes referred to as metaphyseal osteopathy, and typically first presents between the ages of 2 and 7 months. HOD is characterized by decreased blood flow to the metaphysis (the part of the bone adjacent to the joint) leading to a failure of ossification (bone formation) and necrosis and inflammation of cancellous bone. The disease is usually bilateral in the limb bones, especially the distal radius, ulna, and tibia. The Weimaraner, Irish Setter, Boxer, German Shepherd, and Great Dane breeds are heavily represented in case reports of HOD in the veterinary literature, but the severity of symptoms and possible etiology may be different across the breeds. For example, familial clustering of the disease has been documented in the Weimaraner, but not in other breeds. The disease in the Weimaraner and Irish Setter can be particularly severe, with significant mortality ...
Chapter 70 covers acromesomelic dysplasia, Maroteaux type (MIM 602875), including major clinical findings, radiographic features, and differential diagnoses.
Bent bone dysplasia syndrome (BBDS; MIM 614592) is an autosomal dominant perinatal lethal skeletal dysplasia caused by mutations in the FGFR2 gene. The main findings of BBDS include: variable degrees of long bone bending, primarily of the femora, with prominent periosteum, brachydactyly with irregular periosteal surfaces, coronal craniosynostosis, diminished mineralization of the calvarium, pubis, scapula, and hands, a bell-shaped thorax, hypoplastic clavicles, narrowed ischia and acetabular roof and an open metopic suture. Dysmorphic features of BBDS include: low-set and abnormal ears, midface hypoplasia, micrognathia, hypertelorism, megalophthalmos, prenatal teeth, gingival hyperplasia and clitoromegaly. The described FGFR2 mutations result in the substitution of conserved hydrophobic amino acids by polar amino acids within the transmembrane domain of fibroblast growth factor receptor 2. FGFR2 mutations in BBDS appear to be highly penetrant, but the incidence is unknown.. Read less ...
ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE; AMDH description, symptoms and related genes. Get the complete information in our medical search engine
Bone Dysplasias An Atlas of Genetic Disorders of Skeletal Development Third Edition - Książki medyczne | Literatura medyczna polska i zagraniczna | Internetowa księgarnia medyczna | Wydawnictwo medyczne
2Department of Pathology, Faculty of Veterinary Medicine, Cairo University, Giza, EGYPT DOI : 10.9775/kvfd.2019.21884 Hypertrophic osteodystrophy is a developmental disease of unknown etiology and affects primarily young rapidly growing large and giant breed dogs. The present study reports a case of mandibular hypertrophic osteodystrophy fibrosa in a 6-month-old male German shepherd puppy admitted with a history of one month decreased appetite, difficulty in chewing, and open mouth with continuous drooling. Clinical examination revealed thickened mandible and filling of the intermandibular space with hard tissue. Radiography revealed bone-like material filling the intermandibular space. Biopsy from the thickened mandibular mass demonstrated marked osteoclastic activity and resorption of bone trabeculae that were replaced by fibrous connective tissue. The marrow cavity was filled with massive fibrous tissue mixed with hemorrhage and osteoclasts. Hypertrophic osteodystrophy fibrosa should be taken ...
Hypochondrogenesis is a rare, severe disorder of bone growth. This condition is characterised by a small body, short limbs, and abnormal bone formation (ossification) in the spine and pelvis.. Affected infants have short arms and legs, a small chest with short ribs, and underdeveloped lungs. Bones in the skull appear normal, but the bones of the spine (vertebrae) and pelvic bones do not harden properly. The face appears flat and oval-shaped, with widely spaced eyes, a small chin, and, in some cases, an opening in the roof of the mouth called a cleft palate. The abdomen is enlarged, and affected infants may have a condition called hydrops foetalis in which excess fluid builds up in the body before birth.. As a result of these serious health problems, affected infants are usually born prematurely, are stillborn, or die shortly after birth from respiratory failure. Some infants have lived for a while, however, with intensive medical support. Babies who live past the newborn period are usually ...
Some of the most common bow legged causes include:. Blounts Disease: This disease is a medical condition that can cause abnormal growth in the bones, particularly the shin bone. Adults and small children can experience this bone disease. However, some doctors have a hard time determining if a child is bow legged due to Blounts Disease or if it is normal. As the child gets older it would be much easier to determine since a child with Blounts Disease will notice their bow legs getting worse instead of improving. Doctors will examine a child 3 years old or older via X-rays to detect Blounts Disease. The good news is this condition can be treated if it is discovered.. Bone Abnormalities: Abnormal bone development can cause bow legs in adults and children over 3 years old. One of these bone abnormalities is unicameral bone cyst, which happens near the areas of the bone where growth occurs in the legs or arms. The condition will cause bones to become thin and can cause a fracture. Doctors usually ...
The National Center for Biomedical Ontology was founded as one of the National Centers for Biomedical Computing, supported by the NHGRI, the NHLBI, and the NIH Common Fund under grant U54-HG004028.. ...
This condition is a developmental bone disease that usually affects large breed puppies between the ages of 2-8 months of age. Hyper means excessive, trophy or trophic refers to growth. Hypertrophic osteodystrophy is the abnormal and excessive growth of bone. HOD occurs when there is a disturbance in the blood supply to the growth plate, leading to delays in bone production. The weakened bones develop microscopic fractures which result in inflammation, pain, and lameness. In mild cases, the dog can make a full recovery with appropriate treatment. In severe cases, the condition can result in systemic illness and deformity of the limbs. This condition is thought to be genetic, however, viral diseases such as distemper, severe respiratory problems, improper nutrition (including over-nutrition) vitamin C deficiencies and other metabolic defects may also play a role in development of the disease. There is also some speculation that the condition can occur as a result of vaccine reaction, particularly ...
Skeletal Dysplasia is an umbrella term for a group of more than 200 rare genetic disorders of skeletal growth affecting bones and cartilage. Most of the skeletal dysplasias cause short stature or dwarfism and other bone deformities. These changes in bone structure can also impact other body systems. At Benioff Childrens Hospital, pediatric orthopedists, neurosurgeons, neurologists, pediatric ophthalmologists, radiologists, geneticists, and pulmonologists who are experienced in multiple specialties focus on helping children with skeletal dysplasia and work together to help you decide what the best treatment options are for your child. When you come to Benioff Childrens Hospital Oakland you have the peace of mind that comes with knowing that your child is being cared for by pediatric specialists who are among the best in the country at what they do. ...
rat Sost protein: a cystine knot-containing protein; gene is highly conserved in vertebrates; loss of protein results in bone dysplasia sclerosteosis; RefSeq NM_030584
One of the most common reasons for hip replacement surgery is osteoarthritis. Other conditions that can cause hip joint damage include rheumatoid arthritis, hip fracture, septic arthritis, avascular necrosis, traumatic arthritis, post-traumatic arthritis, disorders that cause unusual bone growth like bone dysplasias Hip replacement surgery is commonly performed to treat hip conditions like severe osteoarthritis and hip fractures. The main approach for these surgeries include the anterior and the posterior approach.
Source: U.S. Department of Justice (DOJ). Posted on the U.S. Department of Justice Blog - November 24, 2015. Twenty-five years ago, with the passage of the Americans with Disabilities Act (ADA), our nation committed itself to the elimination of discrimination against people with disabilities. In honor of the 25th anniversary of the ADA, each month, the Department of Justice is highlighting efforts that are opening gateways to full participation and opportunity for people with disabilities. This month, we spotlight the story of a child named Brahm and how the Department of Justices work enforcing the ADA is improving full and equal access to youth athletics in Colorado. Participating in athletic competition is a formative experience for children across this country, and children with disabilities are entitled to participate equally in youth sports.. Nine-year-old Brahm has bone dysplasia, also known as dwarfism, which makes him smaller and lighter than other children his age. In the fall of 2013, ...
Neither my husband nor I have any indicators of NF. We have no history of NF on either side. Our two-year old son, however, received a diagnosis of NF1 at age six months old. Half of NF cases are inherited from an affected parent. Half are the result of a new gene mutation or deletion. Doctors tell us that our sons NF1 is the result of a random mutation or deletion of the NF gene on chromosome 17. As of yet, no drug therapies are available to treat our son. Surgery proves to be the only option to treat his bone dysplasia in the skull, brain tumor, and left eye. I wait for science. God waits for me ...
Dwarfism is a commonly used term for disproportionately short stature, although a more medically appropriate term for this disorder is skeletal dysplasia. Short stature is defined as height that is 3 or more standard deviations below the mean height for age.
Skeletal dysplasia is not just one disorder-its a group of more than 300 disorders. It occurs when a childs bones dont develop the way theyre supposed to, usually causing short stature.
While we are ranked among the best childrens hospitals in the country, its our compassionate approach to treatment that makes us truly exceptional. Through a combination of revolutionary treatments and extraordinary patient experiences, our care does more than heal. It brings the entire family together for emotional support and understanding across multiple locations to reach you in the community where you live. Learn more... ...
Im due May 10th to a baby girl, Miss Cecilia Marie. Its my first pregnancy and Im beyond worried. She has nonlethal Skeletal Dysplasia.. Ive been trying to find someone to talk to that has gone thro...
We welcome you to the 5th Nordic Skeletal Dysplasia Symposium which will be held in Copenhagen, March 8-9 2018.. Skeletal dysplasias are rare diseases and the annual symposium is important to share medical knowledge among collegues in different countries. We hope to attract all medical professionals who are working in - or are interested in - the field of skeletal dysplasias. This includes both caregivers, clinicians, scientist, and students.. More information can be found at our website.. Sincerely,. Hanne, Flemming, and ...
We welcome you to the 5th Nordic Skeletal Dysplasia Symposium which will be held in Copenhagen, March 8-9 2018.. Skeletal dysplasias are rare diseases and the annual symposium is important to share medical knowledge among collegues in different countries. We hope to attract all medical professionals who are working in - or are interested in - the field of skeletal dysplasias. This includes both caregivers, clinicians, scientist, and students.. More information can be found at our website.. Sincerely,. Hanne, Flemming, and ...
Relief is when you and the right researcher find each other Finding the right clinical trial for Maroteaux Verloes Stanescu syndrome can be challenging. However, with TrialsFinder (which uses the Reg4ALL database and privacy controls by Private Access), you can permit researchers to let you know opportunities to consider - all without revealing your identity. ...
Are you looking for disease information or support? Simply type in the name of a disease or condition and Disease InfoSearch will locate quality information from a database of more than 13,000 diseases and thousands of support groups and foundations.
Disclaimer: The information given by www.pediatriconcall.com is provided by medical and paramedical & Health providers voluntarily for display & is meant only for informational purpose. The site does not guarantee the accuracy or authenticity of the information. Use of any information is solely at the users own risk. The appearance of advertisement or product information in the various section in the website does not constitute an endorsement or approval by Pediatric Oncall of the quality or value of the said product or of claims made by its manufacturer ...
Is a growth disorder of the tibia (shin bone) that causes the lower leg to angle inward, resembling a bowleg. Occurs in young children and
Check For Discount on Global Bone Cement Market Analysis 2016, Trends and Forecast 2021 (Analysis Of Production, Supply, Sales And Demand) Industry Research Report: Global QY Research
Looking for Elbow dysplasia? Find out information about Elbow dysplasia. 1. the joint between the upper arm and the forearm, formed by the junction of the radius and ulna with the humerus 2. the corresponding joint or bone of... Explanation of Elbow dysplasia
Living with elbow dysplasia An initial diagnosis is necessary prior to any treatment; X-rays are usually taken to ensure that elbow dysplasia is the cause of the pets pain. Managing pain caused by elbow dysplasia is absolutely probable. There are both surgical and non-surgical treatment options available with positive and negative aspects of both options. Surgery is one treatment option that typically provides a sort of permanent relief for elbow dysplasia sufferers. However, if there are multiple defects in the joint and the defects are severe, the surgery can prove less successful, and a dog can still develop degenerative arthritis. For dogs who are not good candidates for surgery or whose owners opt against it, traditional therapy involves a combination of weight control, moderate exercise, and anti-inflammatory medications. Additional therapies might be suggested, depending on a dogs current health status. For severely overweight dogs, hydrotherapy might be recommended to alleviate ...
She married William Blount on FEB 1327 in Sodington, Worchester, England, son of William /Blount/ and William /Blount/ and William /Blount/ and Walter /Blount/ and Walter /Blount/ and Walter /Blount/ and Walter /Blount/ and Walter /Blount/ and Walter /Blount/ and Walter /Blount/ and Walter /Blount/ and Johanna de /Sodington/ and Johanna de /Sodington/ and Johanna de /Sodington/ and Johanna de /Sodington/ and Johanna de /Sodington/ and Johanna de /Sodington/ and Johanna de /Sodington/ and Johanna de /Sodington/ and Walter /Blount/ and Walter /Blount/ and Walter /Blount/ and Walter /Blount/ and Walter /Blount/ and Walter /Blount/ and Walter /Blount/ and Walter /Blount/ and Johanna de /Sodington/ and Johanna de /Sodington/ and Johanna de /Sodington/ and Johanna de /Sodington/ and Johanna de /Sodington/ and Johanna de /Sodington/ and Johanna de /Sodington/ and Johanna de /Sodington/. He was born Abt 1295 in Sodington, Worchester, England, and died Bef 3 OCT 1337 ...
Organismal continuant entity which is enclosed by the bona fide boundary of an organism or is an attribute of its structural organization. Examples: cell, heart, head, peritoneal cavity, apex of lung, anatomical term, sagittal plane.. ...
Achondrogenesis type II (OMIM 200610) is characterized by severe shortening of the neck and trunk and especially the limbs and by a large, soft head. Fetal hydrops and prematurity are common; infants are stillborn or die shortly after birth. Hypochondrogenesis (OMIM 200610) refers to a clinical phenotype intermediate between achondrogenesis type II and SED congenita. It is typically lethal in the newborn period.. The severity of radiographic changes correlates with the clinical severity (Fig. 686-1). Both conditions produce short, broad tubular bones with cupped metaphyses. The pelvic bones are hypoplastic, and the cranial bones are not well mineralized. The vertebral bodies are poorly ossified in the entire spine in achondrogenesis type II and in the cervical and sacral spine in hypochondrogenesis. The pedicles are ossified in both.. ...
Blount disease is a growth disorder that affects the bones of the lower leg. It causes bowing of the leg below the knee, which gets worse if its not treated.
Blount disease is a growth disorder that affects the bones of the lower leg. It causes bowing of the leg below the knee, which gets worse if its not treated.
Blount disease is a growth disorder that affects the bones of the lower leg. It causes bowing of the leg below the knee, which gets worse if its not treated.
Blount disease is a growth disorder that affects the bones of the lower leg. It causes bowing of the leg below the knee, which gets worse if its not treated.
Blount disease is a growth disorder that causes the bones of the lower leg to bow outward. This gets worse if its not treated, so early diagnosis is very important.
Le Goff C, Mahaut C, Wang LW, Allali S, Abhyankar A, Jensen S, Zilberberg L, Collod-Beroud G, Bonnet D, Alanay Y, Brady AF, Cordier MP, Devriendt K, Genevieve D, Kiper POS, Kitoh H, Krakow D, Lynch SA, Le Merrer M, M?garbane1 A, Mortier G, Odent S, Polak M, Rohrbach M, Sillence D, Stolte-Dijkstra I, Superti-Furga A, Rimoin DL, Topouchian V, Unger S, Zabel B, Bole-Feysot C, Nischke P, Handford P, Casanova JL, Boileau C, Apte SS, Munnich A, Cormier-Daire V. Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible acromicric and geleophysic dysplasias. Am J Hum Genet. 2011;89:7-14 ...
The development of induced pluripotent stem cells (iPSCs) technology has opened up new horizons for development of new research tools especially for skeletal dysplasias, which often lack human disease models. Regenerative medicine and tissue engineering could be the next areas to benefit from refinement of iPSC methods to repair focal cartilage defects, while applications for osteoarthritis (OA) and drug screening have evolved rather slowly. Although the advances in iPSC research of skeletal dysplasias and repair of focal cartilage lesions are not directly relevant to OA, they can be considered to pave the way to future prospects and solutions to OA research, too. The same problems which face the present cell-based treatments of cartilage injuries concern also the iPSC-based ones. However, established iPSC lines, which have no genomic aberrations and which efficiently differentiate into extracellular matrix secreting chondrocytes, could be an invaluable cell source for cell transplantations in ...
Acetabular Dysplasia treatment, etiology, epidemiology, natural history, anatomy, symptoms, xrays, classification, complications and references.
In an attempt to determine which genes cause canine hypertrophic osteodystrophy (HOD), our faculty are studying this developmental disease in Weimaraners and other susceptible breeds (rapidly growing, large dogs such as the Great Dane, Boxer, German shepherd, Labrador retriever and Irish setter) between eight weeks and eight months of age. Affected puppies suffer bone pain that results in lameness or complete refusal to stand or walk. This pain is often accompanied by fever, lethargy and anorexia. In Weimaraners, HOD is often severe and sick puppies may have several episodes until complete closure of the growth plates, which often requires hospitalization for intensive care.. ...
Methods In the present study, we report the clinical and molecular delineation of a new form of syndromic autosomal recessive spondylometaphyseal dysplasia (SMD) in two Emirati first cousins. They displayed postnatal growth deficiency causing profound limb shortening with proximal and distal segments involvement, narrow chest, radiological abnormalities involving the spine, pelvis and metaphyses, corneal clouding and intellectual disability. Whole genome homozygosity mapping localised the genetic cause to 11q12.1-q13.1, a region spanning 19.32 Mb with ~490 genes. Using whole exome sequencing, we identified four novel homozygous variants within the shared block of homozygosity. Pathogenic variants in genes involved in phospholipid metabolism, such as PLCB4 and PCYT1A, are known to cause bone dysplasia with or without eye anomalies, which led us to select PLCB3 as a strong candidate. This gene encodes phospholipase C β 3, an enzyme that converts phosphatidylinositol 4,5 bisphosphate (PIP2) to ...
Methods In the present study, we report the clinical and molecular delineation of a new form of syndromic autosomal recessive spondylometaphyseal dysplasia (SMD) in two Emirati first cousins. They displayed postnatal growth deficiency causing profound limb shortening with proximal and distal segments involvement, narrow chest, radiological abnormalities involving the spine, pelvis and metaphyses, corneal clouding and intellectual disability. Whole genome homozygosity mapping localised the genetic cause to 11q12.1-q13.1, a region spanning 19.32 Mb with ~490 genes. Using whole exome sequencing, we identified four novel homozygous variants within the shared block of homozygosity. Pathogenic variants in genes involved in phospholipid metabolism, such as PLCB4 and PCYT1A, are known to cause bone dysplasia with or without eye anomalies, which led us to select PLCB3 as a strong candidate. This gene encodes phospholipase C β 3, an enzyme that converts phosphatidylinositol 4,5 bisphosphate (PIP2) to ...
History: The patient is a 14 + 6 year old black male with a one year history of progressively worsening left knee pain. He states that the pain began in both knees and was intermittent, Tylenol helped alleviate the pain. Over the past 6 months the pain is more isolated to the left knee and has become constant in nature. Within the last 2 weeks the constant pain has become bad enough to limit his activities. He is unable to attend school or walk more than several hundred feet because of the pain. The pain is now affecting his sleep. He does get some relief with rest and elevation of the knee. The pain also limits his motion in that knee. He denies any trauma to the knee and has no other medical problems. He is not taking any medications. There is no family history of leg deformities. Physical Exam: The adolescent is a morbidly obese 14 + 6 year old black male. His extremity exam reveals an asymmetric pelvis with the right being elevated. There is a leg length inequality with the left leg being ...
Jeune syndrome (asphyxiating thoracic dystrophy, ATD) is a rare autosomal recessive skeletal dysplasia characterized by a small, narrow chest and variable limb shortness with a considerable neonatal mortality as a result of respiratory distress. Renal, hepatic, pancreatic and ocular complications ma …
This gene encodes a serine-threonine protein kinase. Serine-threonine kinases transfer phosphate molecules to the oxygen atoms of serine and threonine. A genomic deletion affecting this gene has been associated with Ellis-van Creveld syndrome, an autosomal recessive skeletal dysplasia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016 ...
This is a bone dysplasia allowing the frontal lobe to herniate not a bone erosion due to en plague meningioma, neurofibroma or other tumour. Note in this case the innominate line (tangential greater wing of sphenoid) remains intact rather it is t...
The neurofibromatoses (NF) encompass the rare diseases NF1, NF2, and schwannomatosis. The NFs affect 100,000 Americans; over 2 million persons worldwide; and are caused by mutation of tumor suppressor genes. Individuals with NF1 in particular may develop tumors anywhere in the nervous system; additional manifestations can include learning disabilities, bone dysplasia, cardiovascular defects, unmanageable pain, and physical disfigurement. Ultimately, the NFs can cause blindness, deafness, severe morbidity, and increased mortality and NF1 includes a risk of malignant cancer. Today there is no treatment for the NFs (other than symptomatic); however, research efforts to understand these genetic conditions have made tremendous strides in the past few years. Progress is being made on all fronts, from discovery studies-understanding the molecular signaling deficits that cause the manifestations of NF-to the growth of preclinical drug screening initiatives and the emergence of a number of clinical ...
Trauma evaluation; musculoskeletal tumors; fracture healing; arthritis; skeletal infection; osteoporosis; metabolic bone disease; bone dysplasias; growth disturbances. ...
Hepatosplenomegaly with Extramedullary Hematopoiesis & Overfolded Superior Helix & Seizure Symptom Checker: Possible causes include FGFR2-Related Bent Bone Dysplasia. Check the full list of possible causes and conditions now! Talk to our Chatbot to narrow down your search.
Cartilage Biopsy Abnormal & Severely Disproportionate Short Stature & Skeletal Dysplasia Symptom Checker: Possible causes include Chondrodystrophy. Check the full list of possible causes and conditions now! Talk to our Chatbot to narrow down your search.
Skeletal dysplasia with brachytelephalangy in a patient with a congenital disorder of glycosylation due to ALG6 gene mutations ...
Geleophysic Dysplasia: Characterized by the designation of the happy face of the affected child (gelios = happy, physis = nature). This disorder is often considered a focal mucopolysaccharidosis. The clinical features include dysostosis multiplex-like changes, predominantly in the hands and feet, and the consequences of focal accumulation of acid mucopolysaccharides in the liver and possibly the cardiovascular system. Joint contractures, hepatomegaly, and cardiomegaly can be present. Aortic and mitral valves regurgitation have been reported. ...
Provides information on a corgi with hip dysplasia and her recovery from surgery, a double femoral head ostectomy. Includes photos, videos and a blog. ...
Treatment progresses for two girls with Blounts disease, The American College of Physicians recommends greater use of generic medications and theres a new chair in neurosurgery at VCU School of Medicine.
I have a dog that has been x-rade came back with both in elbows and hips with mild dysplasia, devasted me had really high hopes for this dog. He has so much...
What can be done about genetic diseases? Well, canine geneticists estimate that the average purebred dog carries at least 4 defective genes. He or she may not be showing them but they are hidden within their genome. So you can mate a normal looking dog carrying elbow dysplasia with another normal looking dog carrying genes for elbow dysplasia and produce a litter of dysplastic pups.. So, then what to do? Support Open Registries and urge every breeder to use one. Basically, an open registry encourages breeders to test every puppy they produce for whatever genetic diseases their breed may be carrying and register these findings (good or bad) . In this way one can see what may be going on with an entire litter. So, if you have 6 pups and one is normal but 5 have cataracts then that one who looks normal may be carrying a gene for cataracts. This is much different from having 6 pups one which has cataracts and 5 that do not. For more information about what an open registry is you may wish to log onto ...
Well, I havent posted about this on here because I didnt think it was going to be significant. Asher began showing the slightest of limps around Aug
You most likely didnt do anything wrong - sometimes crap just happens while breeding despite doing everything we can to prevent it. Definitely
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A. There are plausible disease-causing mutations(i) within, affecting or encompassing an interpretable functional region(ii) of this gene identified in multiple (,3) unrelated cases/families with the phenotype(iii).. OR. B. There are plausible disease-causing mutations(i) within, affecting or encompassing cis-regulatory elements convincingly affecting the expression of a single gene identified in multiple (,3) unrelated cases/families with the phenotype(iii).. OR. C. As definitions A or B but in 2 or 3 unrelated cases/families with the phenotype, with the addition of convincing bioinformatic or functional evidence of causation e.g. known inborn error of metabolism with mutation in orthologous gene which is known to have the relevant deficient enzymatic activity in other species; existence of an animal model which recapitulates the human phenotype.. AND. D. Evidence indicates that disease-causing mutations follow a Mendelian pattern of causation appropriate for reporting in a diagnostic ...
A. There are plausible disease-causing mutations(i) within, affecting or encompassing an interpretable functional region(ii) of this gene identified in multiple (,3) unrelated cases/families with the phenotype(iii).. OR. B. There are plausible disease-causing mutations(i) within, affecting or encompassing cis-regulatory elements convincingly affecting the expression of a single gene identified in multiple (,3) unrelated cases/families with the phenotype(iii).. OR. C. As definitions A or B but in 2 or 3 unrelated cases/families with the phenotype, with the addition of convincing bioinformatic or functional evidence of causation e.g. known inborn error of metabolism with mutation in orthologous gene which is known to have the relevant deficient enzymatic activity in other species; existence of an animal model which recapitulates the human phenotype.. AND. D. Evidence indicates that disease-causing mutations follow a Mendelian pattern of causation appropriate for reporting in a diagnostic ...
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Burrage LC, Reynolds JJ, Baratang NV, Phillips JB, Wegner J, McFarquhar A, Higgs MR, Christiansen AE, Lanza DG, Seavitt JR, Jain M, Li X, Parry DA, Raman V, Chitayat D, Chinn IK, Bertuch AA, Karaviti L, Schlesinger AE, Earl D, Bamshad M, Savarirayan R, Doddapaneni H, Muzny D, Jhangiani SN, Eng CM, Gibbs RA, Bi W, Emrick L, Rosenfeld JA, Postlethwait J, Westerfield M, Dickinson ME, Beaudet AL, Ranza E, Huber C, Cormier-Daire V, Shen W, Mao R, Heaney JD, Orange JS, Bertola D, Yamamoto GL, Baratela WAR, Butler MG, Ali A, Adeli M, Cohn DH, Krakow D, Jackson AP, Lees M, Offiah AC, Carlston CM, Carey JC, Stewart GS, Bacino CA, Campeau PM, Lee B. Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes. Am J Hum Genet. 2019 03 07; 104(3):422-438 ...
Wow! I cant believe we are 19 weeks already! We were in our 19th week with Avery when we found out that she had a form of Skeletal Dysplasia, most likely lethal. I am so grateful that our baby boy looks healthy. I still miss Avery every day and wish that she could be here planning for her brothers arrival but I know she is watching over us and is happy to see her brother finally joining our family! I have finally been able to imagine what it is going to be like to have a baby in our home. To smell his soft skin and enjoy every second with him. Honestly, I am a little scared, not to be a mom but to finally have this baby and then have to watch him grow up so fast! I know that it will be amazing and I will love every second of it, but I also know how fast it goes and even with 21 weeks left in this pregnancy, I just want to stop time already! I am loving being pregnant too. I dont know if all women feel this way or just those of us that have struggled for so long to finally get pregnant but ...
I have a female infant(child) aged 2.3 years and she has bowing of both legs and I visited an orthopedic pediatricion and he told me that she needs to do a surgical operation to correct her legs.please help me to make a discion to do the operation or notHi, my name is Sarah and I have a rare bone disorder that caused me to have bowed legs as a young child. I am now 18 and thanks to the surgery I had, I can live a perfectly normal life. Surgery is always a big decision and I would definitely recommend getting a second or even a third opinion before making any decisions but children are very strong and I know this from personal experience, that they can make it through these circumstances and come out shinning on the other side. I believe it is to do with the innocence of children that makes them so strong because they do not understand everything therefore do not worry like we as adults do. I know now if I had to go through it all again at my age I wouldnt make it. Bowed legs can cause many ...
Patients with metatropic dysplasia have an abnormality in their growth plates. The result is the wide portion of a long bone (the metaphyses) is knobby in appearance and the spine has a flattening of the vertebral bodies.
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The most common cause of coxa vara is either congenital or developmental. Other common causes include metabolic bone diseases ( ... e.g. Paget's disease of bone), post-Perthes deformity, osteomyelitis, and post traumatic (due to improper healing of a fracture ... It can also occur when the bone tissue in the neck of the femur is softer than normal, causing it to bend under the weight of ... It is most commonly a sequela of osteogenesis imperfecta, Pagets disease, osteomyelitis, tumour and tumour-like conditions (e.g ...
... , also known as dysplasia epiphysealis hemimelica and Trevor's disease, is a congenital bone developmental ... Trevor disease): a rare developmental disorder of bone mimicking osteochondroma of long bones". Human Pathology. 38 (8): 1265- ... Trevor disease was first described by the French surgeon Albert Mouchet and J. Belot in 1926. In 1956, the name "dysplasia ... Dorfman, H. D.; Vanel, D.; Czerniak, B.; Park, Y. K.; Kotz, R.; Unni, K. K. (2002). "WHO classification of tumours of bone: ...
It may be developmental in origin or due to softening of the skull base bone, allowing it to be pushed upward. The ... Platybasia is a spinal disease of a malformed relationship between the occipital bone and cervical spine. It may be caused by ... It is sometimes associated with other congenital abnormalities of the bone structure, such as fusion of the first cervical ... developmental variant is the result of a wider angle between the skull base of the frontal or anterior fossa and the clivus, ...
... a human developmental disorder that can occur with neurological problems. The disease phenotypes are due to improper bone ... FGD1 is expressed in areas of bone formation and post-natally in skeletal tissue, the perichondrium, joint capsule fibroblasts ... Thus Cdc42 and FGD1 regulate secretory membrane trafficking that occurs especially during bone growth and mineralization in ... Mice embryos that carried experimentally introduced mutations in the FGD1 gene had skeletal abnormalities affecting bone size, ...
Rare developmental anomaly during embryogenesis Rare genetic disease Rare bone disease Treatment for CLSD is largely focused on ... This decrease in collagen secretion can lead to the bone defects that are also characteristic of the disease, such as skeletal ... meaning that both recessive genes must be inherited from each parent in order for the disease to manifest itself. The disease ... Onset of the disease is in neonatal development and infancy, and symptoms tend to become evident soon after birth. CLSD is ...
Diseases JSM Bone Marrow Research JSM Brain Science JSM Burns and Trauma JSM Cardiothoracic Surgery JSM Cell and Developmental ... Journal of Rare Diseases and Orphan Drugs Journal of Addiction Medicine and Therapy Journal of Aging and Age Related Diseases ... Process Techniques Clinical Journal of Heart Diseases Clinical Research in HIV or AIDS Clinical Research in Infectious Diseases ... Developmental Pathology Archives of Palliative Care Archives of Stem Cell and Research Chemical Engineering and ...
... the treatment of breast cancer and non-Hodgkin's lymphoma as well as for the prevention of graft-versus-host disease in bone ... Atrimustine (INN) (developmental code name KM-2210; former tentative brand name Kregan), also known as bestrabucil or ... which results in targeted/site-directed cytostatic activity toward estrogen receptor-positive tissues such as breast and bone. ...
... developmental delay, muscle weakness, seizures Systemic inflammation Failure to thrive Bone disease, e.g. erosion of bone near ... Disease onset is typically in early infancy but may occur later in life. Children who have the classic form of Farber disease ... "Farber disease". rarediseases.info.nih.gov. Genetic and Rare Diseases Information Center (GARD) - an NCATS Program. Elsea, SH; ... Siblings of individuals with Farber disease have a 25% chance to also have Farber disease, a 50% chance to be a carrier like ...
Schawalder P, Andres HU, Jutzi K, Stoupis C, Bösch C (2002). "Canine panosteitis: an idiopathic bone disease investigated in ... "Developmental orthopaedic disease". Vet Clin North Am Small Anim Pract. 35 (5): 1111-35, v. doi:10.1016/j.cvsm.2005.05.002. ... On physical exam, the dog may display signs of pain on palpation of the long bones of the limbs. X-rays may show an increased ... Panosteitis, sometimes shortened to pano among breeders, is an occasionally seen long bone condition in large breed dogs. It ...
Juvenile veiled chameleons in captivity often develop nutritional metabolic bone disease but will not develop it if fed dietary ... This makes them an excellent model organism to study developmental and evolutionary phenomena. Young chameleons have a ... Odontoblasts produce a layer of predentin that connects the dentine to the supporting bone with both tooth and bone protruding ... "Nutritional Metabolic Bone Disease in Juvenile Veiled Chameleons (Chamaeleo calyptratus) and Its Prevention". The Journal of ...
Hypertrophic osteopathy is a bone disease secondary to disease in the lungs. It is characterized by new bone formation on the ... It is a developmental disease in puppies causing extensive bony changes in the mandible and skull. Signs include pain upon ... The disease in dogs can affect the eyes, brain, lungs, skin, or bones. Histoplasmosis* is a fungal disease caused by ... This list of dog diseases is a selection of diseases and other conditions found in the dog. Some of these diseases are unique ...
... healing occurs by new blood vessels infiltrating the dead bone and removing the necrotic bone which leads to a loss of bone ... 1873, v. ISBN 0-7216-7258-2. Demko J, McLaughlin R (2005). "Developmental orthopedic disease". Vet Clin N Am Small Animal Pract ... healing occurs by new blood vessels infiltrating the dead bone and removing the necrotic bone which leads to a loss of bone ... Barker DJ, Dixon E, Taylor JF (1978). "Perthes' disease of the hip in three regions of England". J Bone Joint Surg Br. 60 (4): ...
Some people with lysosomal storage diseases have enlarged livers or spleens, pulmonary and cardiac problems, and bones that ... They can include developmental delay, movement disorders, seizures, dementia, deafness, and/or blindness. ... disease Infantile free sialic acid storage disease Glycogen storage diseases Type II Pompe disease Type IIb Danon disease Other ... Pompe disease was the first disease to be identified as an lysosomal storage disease in 1963, with L. Hers reporting the cause ...
This lab aimed to utilize stem cells, especially Mesenchymal stem cells (MSCs), to treat orthopedic diseases, especially bone ... Member of the Scientific Council for Departments of Stem cells and Developmental Biology Member of the Scientific Council for ... on bone regeneration. The histological analysis revealed a statistically meaningful increase in new bone formation. His ... The majority of his research serves to accelerate the regeneration process in human bone/cartilage tissue. In the last five ...
Mitu G, Hirschberg R (May 2008). "Bone morphogenetic protein-7 (BMP7) in chronic kidney disease". Frontiers in Bioscience. 13 ( ... Bone morphogenetic protein, Developmental genes and proteins, TGFβ domain). ... BMP7 also has the potential for treatment of chronic kidney disease. Kidney disease is characterized by derangement of the ... Reddi AH (July 2000). "Bone morphogenetic proteins and skeletal development: the kidney-bone connection". Pediatric Nephrology ...
"Osteoporosis Overview". NIH Osteoporosis and Related Bone Diseases National Resource Center. "Scientists discover new bone- ... 51-. ISBN 978-0-275-94608-1. Shaffer D, Kipp K (1 January 2013). Developmental Psychology: Childhood and Adolescence. Cengage ... A bone growth factor is a growth factor that stimulates the growth of bone tissue. Known bone growth factors include insulin- ... Osteoporosis is a bone disease where bone mass is less than the average and can increase fractures. Some causes that lead to ...
... of Genome Regulation Behavioral Determinants and Developmental Imaging Bone and Matrix Biology in Development and Disease Cell ... This included, but was not limited to, the search for drivers of diseases with prenatal or developmental origins. The Study was ... Health and Disease Branch Intellectual and Developmental Disabilities Branch Maternal and Pediatric Infectious Disease Branch ... It was intended to measure the many factors that contribute to health and disease from before birth through age 21. ...
Lion-like facies - involvement of craniofacial bones in Paget disease of Bone Chipmunk facies - beta thalassemia Treacher ... intranasal disease Coarse facies - many inborn errors of metabolism Adenoid facies - developmental facial traits caused by ... The ineffective erythropoiesis causes marrow hyperplasia or expansion and bony changes, including the bones of the face; this ...
Veilleux, Louis-Nicolas; Rauch, Frank (30 August 2017). "Muscle-Bone Interactions in Pediatric Bone Diseases". Current ... Pediatric and Adult Nutrition in Chronic Diseases, Developmental Disabilities, and Hereditary Metabolic Disorders: Prevention, ... People with cerebral palsy are at risk of low bone mineral density. The shafts of the bones are often thin (gracile), and ... In cerebral palsy unequal growth between muscle-tendon units and bone eventually leads to bone and joint deformities. At first ...
"Human disease-causing NOG missense mutations: effects on noggin secretion, dimer formation, and bone morphogenetic protein ... Li W, LoTurco JJ (2000). "Noggin is a negative regulator of neuronal differentiation in developing neocortex". Developmental ... "Entrez Gene: NOG noggin". Blázquez-Medela AM, Jumabay M, Boström KI (May 2019). "Beyond the bone: Bone morphogenetic protein ... "Human disease-causing NOG missense mutations: effects on noggin secretion, dimer formation, and bone morphogenetic protein ...
... he investigated the mechanisms of functional adaptations of bones, cartilage, and tendons to malformation and disease. His ... Roux's research was based upon the notion of Entwicklungsmechanik or developmental mechanics: ... 677-8, PMID 12091116 Kirschner, Stefan (2003), "[Wilhelm Roux's concept of 'developmental mechanics']", Würzburger ... a seminal work for biophysical modelling in developmental biology.", Ann. Anat. (published Feb 1997), vol. 179, no. 1, pp. 33-6 ...
The medication was also studied to treat bone pain in patients with multiple myeloma, metastatic bone disease, and osteoporosis ... Mytatrienediol (developmental code name SC-6924; former tentative brand names Manvene, Anvene), also known as 16α-methyl-16β- ... Kabakow, Bernard (1960). "Effects of Mytatrienediol in Multiple Myeloma, Metastatic Bone Disease, and Osteoporosis". Archives ... Comparison with Premarin in Men with Coronary Heart Disease". Circulation. 17 (6): 1035-1040. doi:10.1161/01.CIR.17.6.1035. ...
Powers of Minus Ten - Bone, a companion app to Scientastic! "Sticks and Stones" about bone biology, received recognition by ... heart and spinal cord trauma and disease, as well as autoimmune diseases like Type I Diabetes. Pollock initially became ... Biomed Central: Developmental Biology, 9(64). K. Jackson-Behan, J. Fair, S. Singh, M. Bogwitz, T. Perry, V. Grubor, F. ... in September 2010 and focused on broken bones and bone regeneration. It starred Riverdale actress Lili Reinhart as the show's ...
Alveolar bone loss is closely associated with periodontal disease. Periodontal disease is the inflammation of the gums. Studies ... therefore limiting bone formation. This results in a net loss of alveolar bone. The developmental disturbance of anodontia (or ... The supporting alveolar bone consists of both cortical (compact) bone and trabecular bone. The cortical bone consists of plates ... The trabecular bone consists of cancellous bone that is located between the alveolar bone proper and the cortical plates. The ...
Those with injury or disease affecting the muscles, bones, ligaments, or tendons will benefit from assessment by a physical ... developmental, neuromuscular, skeletal, or acquired disorders/diseases. Treatments focus mainly on improving gross and fine ... These can include stroke, chronic back pain, Alzheimer's disease, Charcot-Marie-Tooth disease (CMT), ALS, brain injury, ... Neurological physical therapy is a field focused on working with individuals who have a neurological disorder or disease. ...
... foamy histiocytes in bone marrow; visceral mucopolysaccharide storage similar to that in Hurler disease; GM1 storage in ... This subtype is characterized by a trajectory in which some developmental skills are gained, then they stabilize and delays ... Lyon G, Adams RD, Kolodny EH (1996). Neurology of Hereditary Metabolic Diseases of Children (2nd ed.). New York: McGraw-Hill, ... July 2011). "GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings". Biochimica et ...
... can be inhaled directly and long term exposure results in kidney failure and bone problems. Heart disease, hypertension, and ... Thailand: In Thailand, e-waste can also lead to human health risks, such as cancer and human developmental difficulties, if it ... High levels of dioxin compounds, which are linked to cancer and developmental defects, have been commonly found in the breast ... In Guiyu, 80% of the children suffer from respiratory diseases because children typically work in or live near waste disposal ...
ISSD is the most severe form of the sialic acid storage diseases. Babies with this condition have severe developmental delay, ... bone malformations, enlarged liver and spleen (hepatosplenomegaly), and an enlarged heart (cardiomegaly). ISSD is a rare ... Infantile free sialic acid storage disease (ISSD) is a lysosomal storage disease. ISSD occurs when sialic acid is unable to be ... Symptoms present by eight months of age and are marked by developmental delay followed by neurological complications such as ...
December 2019). "Single-cell analysis of bone marrow-derived CD34+ cells from children with sickle cell disease and thalassemia ... Developmental changes and kinetic alterations". Annals of the New York Academy of Sciences. 938 (1): 139-145. Bibcode:2001NYASA ... Cells expressing CD34 (CD34+ cell) are normally found in the umbilical cord and bone marrow as haematopoietic cells, or in ... It may also mediate the attachment of hematopoietic stem cells to bone marrow extracellular matrix or directly to stromal cells ...
Brittle Bone Disorders Consortium (BBD), Brendan Lee, M.D., Ph.D., Baylor College of Medicine, Houston, TX. Clinical Research ... Developmental Synaptopathies Consortium (DSC), Mustafa Sahin, M.D., Ph.D., Boston Children's Hospital, Boston, MA. Dystonia ... The Rare Diseases Clinical Research Network (RDCRN) is an initiative of the Office of Rare Diseases Research (ORDR). RDCRN is ... The following is a timeline of the Rare Diseases Clinical Research Network: As a result of the Rare Diseases Act of 2002, on ...
We identified associated gastrointestinal disease and developmental regression in a group of previously normal children, which ... Bone, James; Rose, David (14 February 2009). "MMR scare doctor Andrew Wakefield makes fortune in US". The Times. London, UK. ... Inflammatory Bowel Disease); particularly Crohn's Disease and Ulcerative Colitis and regressive behavioural disease (RBD) (also ... "researches bowel disease and developmental disorders". Wakefield is barred from practising as a physician in the UK, and is not ...
Parkinson's disease and IQ declination. Nevertheless, topical fluoride was less likely to cause developmental neurotoxicity ... Yildiz, Mustafa; Oral, Baha (2006-06-01). "The effect of pregnancy and lactation on bone mineral density in fluoride-exposed ... These diseases can cause painful responses when associated with the acid or ammonia in SDF. Crystal, Yasmi O.; Niederman, ... Increased exposure of fluoride may lead to certain adverse side effects, including dental fluorosis and developmental ...
... and increased risk of aging-associated diseases including cancer and heart disease. Aging has been defined as "a progressive ... Williams suggested the following example: Perhaps a gene codes for calcium deposition in bones, which promotes juvenile ... de Magalhães JP, Costa J, Church GM (February 2007). "An analysis of the relationship between metabolism, developmental ... In Wilson's disease, a hereditary defect that causes the body to retain copper, some of the symptoms resemble accelerated ...
... which is a severe disease that affects internal organs, including the spleen, liver, and bone marrow. The parasitic pathogen is ... The total developmental time for each generation lasts about 6-7 weeks. L. longipalpis follow a general life cycle common to ... Although chickens cannot serve as host reservoirs for the disease, chickens may play a crucial role in sustaining populations ... Transmission and development of the disease are consequently dependent upon the sandfly's access to multiple blood meals. Dogs ...
Burgstaller JP, Johnston IG, Poulton J (January 2015). "Mitochondrial DNA disease and developmental implications for ... mtDNA may be present in bones, teeth, or hair, which could be the only remains left in the case of severe degradation. In ... Increased mtDNA damage is a feature of several neurodegenerative diseases. The brains of individuals with Alzheimer's disease ... Bonda DJ, Wang X, Lee HG, Smith MA, Perry G, Zhu X (April 2014). "Neuronal failure in Alzheimer's disease: a view through the ...
... bone, wood, etc., at their disposal, and were easily defeated. 19th-century archaeologists uncovered underground rooms in the ... or developmental disabilities. In pre-industrial Europe, a peasant family's subsistence frequently depended upon the productive ... child is common in medieval literature and reflects concern over infants thought to be afflicted with unexplained diseases, ...
In the skeletal muscles connected to tendons that pull on bones, the mysia fuses to the periosteum that coats the bone. ... Coronary artery disease (narrowed coronary arteries) Arrhythmia (irregular heartbeat) Cardiomyopathy (disease of the heart ... Uygur, Aysu; Lee, Richard T. (February 22, 2017). "Mechanisms of Cardiac Regeneration". Developmental Cell. 36 (4): 362-374. ... Contraction of the muscle will transfer to the mysia, then the tendon and the periosteum before causing the bone to move. The ...
List of human cell types derived from the germ layers Brian Keith Hall (2005). Bones and cartilage: developmental and ... The disease has symptoms similar to those resulting from Trsp gene knockout. Loss of the regulator, Pten, of the ... giving rise to either bone or cartilage respectively. Osteochondroprogenitor cells are important for bone formation and ... Osteoblasts are cells that group together to form units, called osteons, to produce bone. Runx2 (which may also be known as ...
Calcium also plays a part in bone structure as the rigidity of vertebrae bone matrices are akin to the nature of the calcium ... Yamori M, Njelekela M, Mtabaji J, Yamori Y, Bessho K (2011-08-04). "Hypertension, periodontal disease, and potassium intake in ... Calcium plays a part in fertilization of an egg, controls several developmental process and may regulate cellular processes ... September 2021). "Metallobiology and therapeutic chelation of biometals (copper, zinc and iron) in Alzheimer's disease: ...
... plays a role in these processes: Wnt3A patterns a multipotent stem cell population that form neurons, muscles, bones, and ... These proteins have are critical in tissue homeostasis, embryonic development, and disease. WNT3A is highly related to the WNT3 ... Developmental Cell. 4 (3): 395-406. doi:10.1016/s1534-5807(03)00055-8. PMID 12636920. Nakaya MA, Biris K, Tsukiyama T, Jaime S ... Wnt3a instructs these multipotent stems cells to form muscle, bone, and cartilage progenitors over forming neurons. Wnt3A also ...
... through understanding developmental models for homosexuality and choosing to heal the complex developmental issues which led to ... He didn't make any bones about it. This is something that he really was going to promote and support, and he has done that, and ... exposure to sexually transmitted diseases such as AIDS and tuberculosis, and even a shorter lifespan?" Sociologist Judith ...
... widened long bone metaphyses (the portion of bone that grows during childhood). Other prominent features include dwarfism, ... developmental errors and systemic skeletal malformations describes the severity of this lethal osteochondrodysplasia. ... Rare diseases, Genetic disorders with OMIM but no gene). ... processes involved in the formation of cartilage and bone ( ... malformations of bone) and fibroblastic dysplasia (abnormal development of fibroblasts, specialized cells that make up fibrous ...
Bone, Q. (2008). Biology of fishes. Richard H. Moore (3rd ed.). New York: Taylor & Francis. ISBN 978-0-203-88522-2. OCLC ... Wilson, Thérèse; Hastings, J. Woodland (1998). "Bioluminescence". Annual Review of Cell and Developmental Biology. 14 (1): 197- ... BMC Infectious Diseases. 17 (1): 458. doi:10.1186/s12879-017-2562-y. ISSN 1471-2334. PMC 5493863. PMID 28666419. Eed, Heba ... Annual Review of Cell and Developmental Biology. 14: 197-230. doi:10.1146/annurev.cellbio.14.1.197. PMID 9891783. Anctil, ...
This work led to a collaboration with David Barker and the emerging science of developmental origins of health and disease ( ... Increasing size was found to occur as bones suddenly elongate and propel a baby's length and child's height by as much as a ... Lampl M, Schoen M.(2017) How Long Bones Grow Children: Mechanistic Paths to Variation in Human Height Growth. Am J Hum Biol 29( ... Collaboration with Norman Wilsman and his team led to the identification of the cellular basis for saltatory bone elongation. ...
The bones were found in a box under the staircase in the Tower of London. The bones were widely accepted at the time as those ... Lash, Adam (2008-12-04). "More on the death of former WWE developmental talent Steve Bradley". Indy Wrestling News. "The man ... as it remains unclear whether he died from disease or poisoning. There have also been conspiracy theories. Meriwether Lewis (35 ... In 1951 human bones were found and were thought to be the remains of Percy Fawcett (57), who had disappeared on 29 May 1925 in ...
It refers to the protrusion of the meninges between the un-fused bones, to lie subcutaneously.[citation needed] Meningocoele - ... Meningohydroencephalocoele (AmE: meningohydroencephalocele) is a form of meningocele (AmE) - a developmental abnormality of the ... Nervous system disease stubs). ... meningohydroencephalocoele is caused by defects in bone ...
August 2015). "A Liquid-to-Solid Phase Transition of the ALS Protein FUS Accelerated by Disease Mutation". Cell. 162 (5): 1066- ... Hyman AA, Weber CA, Jülicher F (2014). "Liquid-liquid phase separation in biology". Annual Review of Cell and Developmental ... "TGF-β-induced DACT1 biomolecular condensates repress Wnt signalling to promote bone metastasis". Nature Cell Biology. 23 (3): ... Y. Shin and C. P. Brangwynne, "Liquid phase condensation in cell physiology and disease," Science, vol. 357, Sep 2017. Methods ...
This leaves the body practically devoid of virgin T cells, which makes it more prone to a variety of diseases. shift in the ... Min H, Montecino-Rodriguez E, Dorshkind K (July 2004). "Reduction in the developmental potential of intrathymic T cell ... "Enhanced differentiation of splenic plasma cells but diminished long-lived high-affinity bone marrow plasma cells in aged mice ... Ginaldi L, Loreto MF, Corsi MP, Modesti M, De Martinis M (August 2001). "Immunosenescence and infectious diseases". Microbes ...
Dual-energy X-ray absorptiometry (DEXA) showed mutant female mice had a decrease in bone mineral density and content. Male ... This gene is deleted in Williams-Beuren syndrome, a developmental disorder caused by deletion of multiple genes at 7q11.23. ... a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists - at the ...
CDC (2020-03-24). "PCOS (Polycystic Ovary Syndrome) and Diabetes". Centers for Disease Control and Prevention. Retrieved 2020- ... Sinclair K. "Declining fertility, insulin resistance and fatty acid metabolism in dairy cows : Developmental consequences for ... there are concerns surrounding long-term aromatase inhibitor therapy due to its effect on bone health. It is common practise ...
Without treatment as many as half the patients can die from the disease. Pertussis is a highly contagious disease that is ... 28 February 1998). "RETRACTED: Ileal-lymphoid-nodular hyperplasia, non-specific colitis, and pervasive developmental disorder ... break in the bone hospital acquired infections blockage of the main artery of the lung or one of its branches by a blood clot ... Poliomyelitis, known as the disease Polio, is a highly infectious disease caused by a virus that lives in the throat and ...
The disease is more commonly called canker sores. Ewing sarcoma is a cancerous tumor in the bones or soft tissues, such as ... It begins with failure to thrive in infants and children, and then the developmental delays start to show: microcephaly, ... Although this is a genetic disease, it can also be caused by certain medications and sometimes bone marrow.[clarification ... "Sutton Disease 2 disease". Malacards - Research Articles, Drugs, Genes, Clinical Trials. Retrieved 2018-11-11. "Ewing Sarcoma ...
The Hanford Thyroid Disease Study, an epidemiologic study of the relationship between estimated exposure doses to radioiodine ... As studies of biological samples (including bone, thyroid glands and other tissues) have been undertaken, it has become ... and other reproductive developmental problems. The Radiation Exposure Compensation Act of 1990 established a $100 million[ ... Several severe adverse health effects, such as an increased incidence of cancers, thyroid diseases, CNS neoplasms, and possibly ...
In Peyronie's disease, anomalous scar tissue grows in the soft tissue of the penis, causing curvature. Severe cases can be ... Hypospadias is a developmental disorder where the meatus is positioned wrongly at birth. Hypospadias can also occur ... "Why Humans Lost Their Penis Bone". Science. 13 December 2016. Dixson, A. F. (2009). Sexual selection and the origins of human ... Center of Disease Control. "DES Update: Consumers". Retrieved 2013-11-07. Swan SH, Main KM, Liu F, et al. (August 2005). " ...
They concluded that diseased bone marrow could also be destroyed with radiation, and this led to the development of bone marrow ... The Dutch professor Francois de la Boe Sylvius, a follower of Descartes, believed that all disease was the outcome of chemical ... "Milestone (1971): National Cancer Act of 1971". Developmental Therapeutics Program Timeline. National Cancer Institute. ... The Japanese medical community observed that the bone marrow of victims of the atomic bombings of Hiroshima and Nagasaki was ...
The astragalus bone (ankle bone) was separated from the tibia and the calcaneum, and formed half of the socket for the fibula. ... Affecting juvenile birds that have experienced malnutrition, this disease can cause pain in one limb, which makes the birds ... In 2001, paleontologist Ralph Molnar suggested that this was caused by a developmental anomaly called fluctuating asymmetry. ... These bones were coossified together (fusion during bone tissue formation), so the sutures between them cannot be determined. ...
Black was an advocate for research using stem cells to repair damage from such conditions as cancer and Alzheimer's disease and ... serving as the Chief of its Laboratory of Developmental Neurology as the Nathan Cummings Professor of Neurology. In 1990 he ... published in the Journal of Neuroscience Research showed that when an antioxidant was added to stem cells extracted from bone ... Alzheimer's Disease and Advances in Neuroscience. A resident of the Skillman section of Montgomery Township and of Andes, New ...
... bone, sinuses, ears, and/or testes. The disease may also present as a pDC leukemia, i.e. increased levels of malignant pDC in ... Developmental and Comparative Immunology. 19 (3): 225-236. doi:10.1016/0145-305X(95)00006-F. PMID 8595821. Salinas, I., & Parra ... bone marrow, central nervous system, and other tissues. Typically, the disease presents with skin lesions (e.g. nodules, tumors ... In consequence, the disease has a poor overall prognosis and newer chemotherapeutic and novel non-chemotherapeutic drug ...
The number of genomic alterations was more than 2 to 3 times greater in the blast phase as in the chronic phase of the disease ... Szponar A, Zubakov D, Pawlak J, Jauch A, Kovacs G (2009). "Three genetic developmental stages of papillary renal cell tumors: ... Correlation of prognosis with bone marrow cytogenetic finding in acute lymphoblastic leukemia Unclassified ALL is considered to ... Copy number gains in germline samples may be disease-associated or may be a benign copy number variant. When seen in tumor ...
Manual for The Surveillance of Vaccine-Preventable Diseases (Chapter 15) ... developmental delay,. *meningoencephalitis, or. *radiolucent bone disease.. Confirmed: An infant with at least one of the ... radiolucent bone disease.. Probable: An infant who does not have laboratory confirmation of rubella infection but has at least ... congenital heart disease, hearing impairment, and developmental delay. Infants with CRS often present with more than one of ...
Bone Diseases, Developmental. EN. dc.subject. Face. EN. dc.subject. Speech Disorders. EN. ...
Endocrine System Diseases. Dwarfism. Bone Diseases, Developmental. Bone Diseases. Musculoskeletal Diseases. Bone Diseases, ... Pituitary Diseases. Hypothalamic Diseases. Brain Diseases. Central Nervous System Diseases. Nervous System Diseases. ... At 2 times in the trial they will have a hand x-ray taken to measure the bone age. At the end of the trial the patients will ... BA (Bone Age) [ Time Frame: 12 months ]. *Anti-hGH AB [ Time Frame: 12 months ]. *AE and tolerability [ Time Frame: 12 months ] ...
Bone Diseases, Developmental. EN. dc.subject. Face. EN. dc.subject. Speech Disorders. EN. ...
Categories: Bone Diseases, Developmental Image Types: Photo, Illustrations, Video, Color, Black&White, PublicDomain, ... The Centers for Disease Control and Prevention (CDC) cannot attest to the accuracy of a non-federal website. ... Centers for Disease Control and Prevention. CDC twenty four seven. Saving Lives, Protecting People ...
Multiorgan WU Polyomavirus Infection in Bone Marrow Transplant Recipient. Emerging Infectious Diseases. 2016;22(1):24-31. doi: ... She also demonstrated failure to thrive, developmental delay, mild pulmonic stenosis, and gastroesophageal reflux. ... Zaki and the Centers for Disease Control and Prevention Infectious Diseases Pathology Branch for the simian virus, adenovirus, ... Epithelial cells and airway diseases. Immunol Rev. 2011;242:186-204. DOIPubMedGoogle Scholar ...
... is a rare developmental disorder affecting the epiphyses in young children. It is thought to be a variant of osteochondroma ... Dysplasia epiphysealis hemimelica (Trevor disease): a rare developmental disorder of bone mimicking osteochondroma of long ... Drugs & Diseases , Orthopedic Surgery Dysplasia Epiphysealis Hemimelica (Trevor Disease) Treatment & Management. Updated: Dec ... encoded search term (Dysplasia Epiphysealis Hemimelica (Trevor Disease)) and Dysplasia Epiphysealis Hemimelica (Trevor Disease) ...
Musculoskeletal Diseases [C05]. *Bone Diseases [C05.116]. *Bone Diseases, Developmental [C05.116.099]. *Osteochondrodysplasias ...
Rare otorhinolaryngologic disease Syndrome with limb reduction defects -Rare bone disease -Rare developmental defect during ... Musculoskeletal disease with cataract -Rare eye disease -Rare genetic disease Orofacial clefting syndrome -Rare developmental ... Synostosis of carpal bones. Occasional [Orphanet] 39 / 7739 70. (HPO:0009601) Aplasia/Hypoplasia of the thumb. Very frequent [ ... Rare genetic disease -Rare maxillo-facial surgical disease - ... Bowing of the long bones. Very frequent [Orphanet] 95 / 7739 57 ...
Developmental Cell, 19: 329-344.. 2. Maes, C., Carmeliet, G., Schipani, E. (2012). Hypoxia-driven pathways in bone development ... in embryonic development as well as adult bone homeostasis, repair processes and diseases involving the skeleton. Graduated as ... During her postdoctoral studies she was trained in the study of bone metastasis in mice in the lab of Theresa Guise (then at ... Osteoprogenitors in bone development, homeostasis and repair. Live Webinar: 12 October 2016, 4-5pm CET ...
... is a rare developmental disorder affecting the epiphyses in young children. It is thought to be a variant of osteochondroma ... Dysplasia epiphysealis hemimelica (Trevor disease): a rare developmental disorder of bone mimicking osteochondroma of long ... Drugs & Diseases , Orthopedic Surgery Dysplasia Epiphysealis Hemimelica (Trevor Disease) Differential Diagnoses. Updated: Dec ... encoded search term (Dysplasia Epiphysealis Hemimelica (Trevor Disease)) and Dysplasia Epiphysealis Hemimelica (Trevor Disease) ...
... he found cystine crystals in the liver and spleen of a 21-month-old infant and called the disease ... Inherited Human Apollo Deficiency Causes Severe Bone Marrow Failure and Developmental Defects 1.0 CME / ABIM MOC Credits ... Other forms, such as the late-onset forms of cystinosis, Wilson disease, galactosemia, and glycogen-storage disease, appear ... Inherited Human Apollo Deficiency Causes Severe Bone Marrow Failure and Developmental Defects ...
Musculoskeletal Diseases [C05] * Bone Diseases [C05.116] * Bone Diseases, Developmental [C05.116.099] * Osteochondrodysplasias ... 2007; see OSTEOCHONDRODYSPLASIAS 1985-1990, see BONE DISEASES, DEVELOPMENTAL 1975-1984. History Note. 2007(1975). Date ... Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] * Genetic Diseases, Inborn [C16.320] * Adrenal ... Engelmann Disease Engelmanns Disease Progressive Diaphyseal Dysplasia Public MeSH Note. ...
Bone Diseases, Developmental 1 0 Breast Neoplasms 1 1 Cleft Lip 1 0 ... in Genopedia reflects only the indexed disease term without children terms, but the number in the HuGE Literature Finder ... reflects all text searches of the disease term including the indexed term and corresponding children terms. ...
... bone density, cardiovascular diseases, various cancers, reproduction and developmental abnormalities, and mental and behavioral ... Caffeine consumption has been studied as a risk factor for many diseases and conditions, including hypertension, ... Multi-rule quality control for the age-related eye disease study. Stat Med 27:4094-4106. ... Centers for Disease Control and Prevention, Atlanta, GA for analysis. ...
... bone density, cardiovascular diseases, various cancers, reproduction and developmental abnormalities, and mental and behavioral ... Caffeine consumption has been studied as a risk factor for many diseases and conditions, including hypertension, ... Multi-rule quality control for the age-related eye disease study. Stat Med 27:4094-4106. ... Centers for Disease Control and Prevention, Atlanta, GA for analysis. ...
Reproductive and Developmental Medicine. Research output: Contribution to journal › Article › peer-review ... Shono K, Tajiri T, Fujii Y, Suita S. Clinical implications of minimal disease in the bone marrow and peripheral blood in ... Shono, K., Tajiri, T., Fujii, Y., & Suita, S. (2000). Clinical implications of minimal disease in the bone marrow and ... Shono, K, Tajiri, T, Fujii, Y & Suita, S 2000, Clinical implications of minimal disease in the bone marrow and peripheral ...
ASDAutismautism spectrum disordersbehavioral neurosciencecardiovascular diseasedevelopmental disordersdevelopmental ... including poor bone growth, obesity and other diet-related diseases (e.g., cardiovascular disease) in adolescence or adulthood. ... Alzheimers Disease. Parkinsons News. Autism / ASD News. Neurotechnology News. Artificial Intelligence News. Robotics News ... Definition of neurology: a science involved in the study of the nervous systems, especially of the diseases and disorders ...
Gaucher disease iPSC-derived osteoblasts have developmental and lysosomal defects that impair bone matrix deposition. (2018). ... lysosomal storage diseases; Gaucher disease; Parkinsons disease; neuronal development; dopaminergic development; ... The enzyme deficiency in Gaucher patients results in hepatosplenomegaly, hematologic abnormalities, bone disease, and there is ... Mutant GBA1 iPSC-derived osteoblasts have developmental and lysosomal defects that impair bone matrix deposition. ...
Sialic acid storage disease is an inherited disorder that primarily affects the nervous system. Explore symptoms, inheritance, ... Signs and symptoms of Salla disease include intellectual disability and developmental delay, seizures, problems with movement ... bone malformations, an enlarged liver and spleen (hepatosplenomegaly), and an enlarged heart (cardiomegaly). The abdomen may be ... Salla disease is a less severe form of sialic acid storage disease. Babies with Salla disease usually begin exhibiting ...
Musculoskeletal Diseases [C05]. *Bone Diseases [C05.116]. *Bone Diseases, Developmental [C05.116.099]. *Dwarfism [C05.116. ...
... uniform criteria used to define a disease for public health surveillance. ... developmental delay,. *meningoencephalitis, OR. *radiolucent bone disease.. Confirmed. An infant with at least one symptom ( ... radiolucent bone disease.. Probable. *An infant without an alternative etiology that does not have laboratory confirmation of ... Notifiable Infectious Disease Tablesplus icon *About Notifiable Infectious Diseases and Conditions Data ...
... and loved ones in the rare bone marrow failure disease sector for AAMDSIF. In this role, her reach spreads across the nation to ... Leigh has dedicated more than a decade to serving patients, families, and loved ones in the rare bone marrow failure disease ... Her previous experience includes working as a patient advocate for individuals with developmental disabilities. She currently ... Podcast Episode - Leigh Clark, Patient Educator, shares her insight into the bone marrow failure disease journey ...
... phosphorus have significantly increased incidence of developmental bone disease. These dogs seem to be unable to protect ... Skeletal Diseases of the Growing Dog: Nutritional Influences and the Role of Diet. Calcium excess is routed primarily to bone ... retarded bone maturation, higher percentage of total bone volume, retarded bone remodeling, decrease in osteoclasts, and ... It was calcium and bone growth supplements that lead to ortho problems. Check the bag if the calcium content is above 1.5% I ...
... care to children of all ages who deal with complex and uncomfortable musculoskeletal issues that affect their bones, joints and ... developmental hip dysplasia, limb deficiency and deformity, and osteogenesis imperfecta (brittle bone disease). ... psychological and developmental needs to help our pediatric patients lead healthier and happier lives. Our Childrens Hospital ... care to children of all ages who deal with complex and uncomfortable musculoskeletal issues that affect their bones, joints and ...
Bone marrow hypocellularity Cranial nerve paralysis Encephalocele Global developmental delay Hepatitis Hepatomegaly ... The number of copies of a gene that need to have a disease-causing variant affects the way a disease is inherited. This disease ... For some diseases, symptoms may begin in a single age range or several age ranges. For other diseases, symptoms may begin any ... When do symptoms of this disease begin?. The most common ages for symptoms of a disease to begin is called age of onset. Age of ...
4. Bone Disease. Image Source: pixabay. Hypertrophic osteodystrophy is a condition that affects dogs during their early ... developmental period. Especially in large breed puppies around two months, the condition causes pain, limping, and swollen ... 3. Joint Disease. Image Source: wagwalking. Some joint diseases develop over time as a result of wear and tear. Other reasons ... It could be an injury caused by a foreign object, infection, joint pain, or bone disease. Let us look at some common causes. ...
In collection: Developmental Disorders , The RAS Pathway , Zebrafish as a Disease Model ... Adult bone homeostasis was altered, as observed by differences in vertebral bone mineral density and collagen fibre ... Zebrafish have emerged as an advantageous animal model for a variety of human diseases, including cancer and skeletal diseases ... The balance between osteoblasts and osteoclasts is key in bone homeostasis and control of bone density. Moreover, osteoclasts ...
... and microarray data from 757 probands and 233 parents and siblings who carry disease-associated variants. The number of rare ... INSERM, UMR1238, Bone sarcoma and remodeling of calcified tissue, Nantes, France. Cedric Le Caignec MD, PhD ... Other hits involve disease-associated genes and affect core cellular and developmental processes. To understand how other rare ... Center for Rare Diseases and Reference Developmental Anomalies and Malformation Syndromes, CHU Dijon, Dijon, France ...
... bone disease (metabolic disease or malignancy), or trauma of the lower extremity (4) developmental dysplasia of the hip; (5) ... 1) advanced degenerative changes of the hip; (2) history of rheumatic immune system diseases; (3) previous surgical history, ...
  • Dysplasia epiphysealis hemimelica (Trevor disease): a rare developmental disorder of bone mimicking osteochondroma of long bones. (medscape.com)
  • Evaluation, imaging, histology and operative treatment for dysplasia epiphysealis hemimelica (Trevor disease) of the acetabulum: a case report and review. (medscape.com)
  • Vanhoenacker F, Morlion J, De Schepper AM, Callewaert E. Dysplasia epiphysealis hemimelica of the scaphoid bone. (medscape.com)
  • Trevor's disease: the clinical manifestations and treatment of dysplasia epiphysealis hemimelica. (medscape.com)
  • Dysplasia epiphysealis hemimelica (DEH), or Trevor disease, should be treated if the lesion is causing deformity, pain, or interference with function. (medscape.com)
  • An autosomal dominant form of dysplasia that is characterized by progressive thickening of diaphyseal cortex of long bones. (nih.gov)
  • Conditions that may warrant care from our physicians who specialize in pediatric orthopaedic care include scoliosis, neuromuscular disorders, developmental hip dysplasia, limb deficiency and deformity, and osteogenesis imperfecta (brittle bone disease). (tgh.org)
  • 42 Progressive pseudorheumatoid dysplasia (PPRD) is a joint disease that worsens over time. (malacards.org)
  • Raine syndrome is an osteosclerotic bone dysplasia, which has proved to be lethal within the first few weeks of life in all the reported cases to date. (elsevier.com)
  • In the current study, we have identified two unrelated individuals who presented at birth with a sclerosing bone dysplasia with features very similar to those in Raine syndrome but who survived infancy and are now aged 8 and 11years, respectively. (elsevier.com)
  • Ultrasound: To check for developmental dysplasia or evaluate abnormalities without the use of radiation. (sportsorthocenter.com)
  • The diagnostics examination in this period of life are connected with the diagnosis of the genetic diseases (osteogenesis imperfecta, skeletal dysplasia), traumas and chronic systemic disturbances. (osteoporoza.pl)
  • Monostotic Fibrous Dysplasia is a benign fibro-osseous developmental anomaly where only one bone is involved. (bvsalud.org)
  • Such insights could lead to the identification of new targets for the development of anabolic treatments of osteoporosis and other disorders, and to improve bone repair and regenerative tissue engineering strategies. (ectsoc.org)
  • Caffeine consumption has been studied as a risk factor for many diseases and conditions, including hypertension, bone density, cardiovascular diseases, various cancers, reproduction and developmental abnormalities, and mental and behavioral disorders. (cdc.gov)
  • Definition of neurology: a science involved in the study of the nervous systems, especially of the diseases and disorders affecting them. (neurosciencenews.com)
  • The results are reported in the Journal of Autism and Developmental Disorders . (neurosciencenews.com)
  • Accurate genetic diagnosis of complex disorders will require complete evaluation of the genetic background even after a candidate disease-associated variant is identified. (nature.com)
  • This pattern may be seen with developmental or inactive traumatic disorders that affect bone modeling, malunion fractures and some benign bone tumors. (vin.com)
  • For example, aggressive features are frequently associated with inflammatory and neoplastic bone disorders whereas non-aggressive features are often found with developmental and degenerative disease. (vin.com)
  • The Color Atlas of Oral and Maxillofacial Diseases provides comprehensive, practical information on the most common oral and maxillofacial diseases and disorders. (researchandmarkets.com)
  • Bone and cartilage disorders in children can take many forms, including short stature, brittle bones or very short fingers and toes. (edu.au)
  • These faults are seen throughout different bone and cartilage disorders that can affect children, with varied symptoms. (edu.au)
  • Advancing our understanding of these disorders helps affected children and adolescents and provides insight into bone and cartilage disorders such as osteoarthritis and osteoporosis which are more common in adults. (edu.au)
  • Our musculoskeletal experts work to understand the genetic basis of bone and cartilage disorders and translate these findings into tangible outcomes for children and their families. (edu.au)
  • Our team also uses stem cell technology to investigate how bone and cartilage disorders develop. (edu.au)
  • Using a sample of the patient's skin cells or blood cells, we grow laboratory models of inherited human cartilage and bone disorders. (edu.au)
  • Understand the why behind diseases and disorders and how it affects what you do in everyday practice with Goodman and Fuller's Pathology Essentials for the Physical Therapist Assistant, 2nd Edition. (elsevierhealth.com)
  • This will provide tools for the · iodine deficiency disorders, which may prevention, early detection, management lead to developmental retardation and and control of nutrition disorders. (who.int)
  • This article reviews a variety of congenital and developmental disorders of the pediatric orbit with particular emphasis on ocular lesions, followed by a description of developmental and neoplastic orbital and ocular masses. (radiologykey.com)
  • Apart from Minimally Invasive Surgery (MIS) for Total Knee Replacement, Total Hip Replacement and Unicondylar (Partial) Knee Replacement, we have helped several patients successfully manage their bone, joint and a variety of musculoskeletal disorders by employing the latest interventions and evidence-based medicine. (eternalhospital.com)
  • Orthopaedics is a specialized field of medicine that focuses on managing the defects or disorders of bones and joints through surgery or manipulation of the musculoskeletal system, made of muscles and bones, as well as joints, ligaments, and tendons. (eternalhospital.com)
  • Centers for Disease Control and Prevention. (cdc.gov)
  • 1 case per year (Centers for Disease Control and Prevention [CDC], unpublished data). (cdc.gov)
  • The Centers for Disease Control and Prevention (CDC) cannot attest to the accuracy of a non-federal website. (cdc.gov)
  • Urine samples were processed, stored, and shipped to the Division of Laboratory Sciences, National Center for Environmental Health, Centers for Disease Control and Prevention, Atlanta, GA for analysis. (cdc.gov)
  • 3/ This micro-data tape comprises the data collected by the NHAMCS in 1992, conducted by the Ambulatory Care Statistics Branch of the National Center for Health Statistics, Centers for Disease Control and Prevention. (cdc.gov)
  • The enzyme deficiency in Gaucher patients results in hepatosplenomegaly, hematologic abnormalities, bone disease, and there is a 50-fold increased propensity for development of B cell lymphomas and multiple myeloma. (umaryland.edu)
  • A generalized lesion distribution, one that involves the entire skeletal system, is often associated with abnormalities that affect bone metabolism. (vin.com)
  • FA is characterized by bone marrow failure, AML , solid tumors, and developmental abnormalities. (wikipedia.org)
  • X-rays: To determine bone density and check for bone fractures and abnormalities. (sportsorthocenter.com)
  • Bone biopsy: To determine bone and tissue abnormalities by taking a small sample of bone through a needle. (sportsorthocenter.com)
  • A surgeon with special training in the diagnosis and treatment of abnormalities of the skull, facial bones, and soft tissue. (uhhospitals.org)
  • Magnesium deficiency in the pathogenesis of disease : early roots of cardiovascular, skeletal, and renal abnormalities / Mildred S. Seelig. (who.int)
  • Several neurophysiological and behavioral abnormalities contain been documented in these animals that sound some of the essence features of major psychiatric diseases (Meyer and Feldon, 2012). (daubnet.com)
  • This x-ray reveals the skeletal developmental abnormalities of a vitamin C-deficient infant that plainly shows how subperiosteal hemorrhages forced the periosteum away from the developing bone surface, and which subsequently had begun to form new bone (arrowheads). (cdc.gov)
  • 1-3 ] Common congenital defects of CRS include cataracts, congenital heart disease, hearing impairment, and developmental delay. (cdc.gov)
  • In addition to deregulation of essential lysosomal functions, mutant GBA1 causes developmental defects, recapitulating the anemias, bone disease and neurodegeneration observed in patients. (umaryland.edu)
  • At first, it was solely focusing on surgically treating developmental deformities and the defects of polio in children. (eternalhospital.com)
  • Waardenburg syndrome is a rare disease characterized by deafness in association with pigmentary anomalies and defects of neural crest-derived tissues. (medscape.com)
  • Wolf-Hirschhorn syndrome is a genetic disorder that can lead to birth defects and developmental problems. (verywellhealth.com)
  • Those projects include potential treatments for the neurodegenerative disease Niemann-Pick type C, the neuromuscular disorder hereditary inclusion body myopathy, the blood disorder sickle cell disease, a rare blood cancer known as chronic lymphocytic leukemia, and the parasitic worm diseases schistosomiasis and hookworm. (addiandcassi.com)
  • A fibro-osseous hereditary disease of the jaws. (rush.edu)
  • A rare hereditary developmental defect with connective tissue involvement and characteristics of cutis laxa of variable severity, in utero growth restriction, congenital hip dislocation and joint hyperlaxity, wrinkling of the skin, in particular the dorsum of hands and feet and progeroid facial features. (cdc.gov)
  • Age of onset can vary for different diseases and may be used by a doctor to determine the diagnosis. (nih.gov)
  • Despite the limited responses of bone to insult, lesions can often be classified by disease category which can, in turn, be used to establish a definitive or differential diagnosis (Table 1). (vin.com)
  • A useful step in establishing a differential diagnosis is to characterize a bone lesion as being aggressive or nonaggressive based on radiographic features (Table 2). (vin.com)
  • Quick-access atlas format makes it easy to look up clinical signs, diagnosis, and treatment of oral and maxillofacial diseases - NEW! (researchandmarkets.com)
  • The important role in the bone metabolic diseases diagnosis in the recent years play the genetic examinations - it was proven that connection between the bone mineral density and VDR genotype better observed in the younger groups of age (through the natural limitation of the environmental factors influence)The easiest in small children are the biochemical investigations and the assessment of calcium -phosphorus metabolism indices with the vitamin d metabolite concentration. (osteoporoza.pl)
  • In the diagnosis of metabolic diseases these are the basic examinations and denstitometric and ultrasound assessment of the skeleton should be joined to them. (osteoporoza.pl)
  • Fanconi Anemia (FA) is a rare multi- system genetic disorder that presents signs and The general diagnosis of FA is based on a symptoms including bone-marrow failure, somatic cytogenetic diagnosis by means of DiEpoxiButane malformations, pancytopenia, and a predisposition (DEB) and molecular genetic diagnosis. (bvsalud.org)
  • NURSING DIAGNOSIS: Injury, hazard as a replacement for (jeopardy factors: developmental majority, infant nosiness, rapidly progressing motor abilities) Outcome Naming and Evaluation Infant safety desire be maintained: infant will continue free from injury. (daubnet.com)
  • Cardiovascular diseases are among the leading causes of death all around the world and so the diagnosis and treatment of these diseases are an everyday challenge both in the out- and inpatient care. (bme.hu)
  • Early diagnosis and improvement of the hearing defect are important for the psychological development of children with this disease and help to reduce the sense of isolation. (medscape.com)
  • UK based population studies have shown a prevalence of 1.8% with a further 3.2% of children considered as having a "probable Developmental Coordination Disorder" diagnosis, suggesting a likely incidence of 4.9% (Lingam et al 2009). (educationjobs.com)
  • Sialic acid storage disease is an inherited disorder that primarily affects the nervous system. (medlineplus.gov)
  • This disorder is generally classified into one of three forms: infantile free sialic acid storage disease, Salla disease, and intermediate severe Salla disease. (medlineplus.gov)
  • Infantile free sialic acid storage disease (ISSD) is the most severe form of this disorder. (medlineplus.gov)
  • Sialic acid storage disease is a very rare disorder. (medlineplus.gov)
  • Researchers will begin drug development projects for rare and neglected diseases that include potential treatments for a musculoskeletal disorder, a cognitive dysfunction disorder, a virus that affects the central nervous system of newborns, a parasitic worm infection, a form of muscular dystrophy and a rare lung disease. (addiandcassi.com)
  • Although it is a very rare disorder, study of this and other bone marrow failure syndromes has improved scientific understanding of the mechanisms of normal bone marrow function and development of cancer. (wikipedia.org)
  • [3] The disease is named after the Swiss pediatrician who originally described this disorder, Guido Fanconi . (wikipedia.org)
  • Every year about 100 babies are born in Australia with a genetic bone and cartilage disorder . (edu.au)
  • Achondroplasia, a form of dwarfism, is the most common genetic bone and cartilage disorder, occurring in about one in 25,000 children born in Australia. (edu.au)
  • By the end of Reception year Lydie was diagnosed with developmental coordination disorder (DCD), the preferred medical term for dyspraxia. (educationjobs.com)
  • She received the 2006 PhD Excellence Award of the Belgian Society for Cell and Developmental Biology, the 2011 Annual Lecture Award of the Belgian Endocrine Society, and the 2013 ECTS Iain T Boyle Award. (ectsoc.org)
  • A mixed radiographic pattern may develop with osteomyelitis, bone tumors and to some extent, normal bone healing. (vin.com)
  • These tumors often spread rapidly (metastasize) to other parts of the body, including the brain, liver, and bone. (yahoo.com)
  • Chronic cadmium exposure primarily affects the kidneys and secondarily the bones. (cdc.gov)
  • The principal organs adversely affected by Cd following acute and chronic exposure are the kidneys, bone, vasculature and lung. (cdc.gov)
  • Additional tests, such as X-rays to investigate bone and internal malformations, renal ultrasonography to examine the kidneys, and magnetic resonance imaging (MRI) of the brain can help identify the range of symptoms the baby may face. (verywellhealth.com)
  • They may have unusual facial features that are often described as "coarse," seizures, bone malformations, an enlarged liver and spleen (hepatosplenomegaly), and an enlarged heart (cardiomegaly). (medlineplus.gov)
  • abetes and cardiovascular disease [ 14,15 ]. (who.int)
  • Studies have also documented an association between lead toxicity and cardiovascular disease and stroke. (medscape.com)
  • It gives a basic overview of the pathomorphology and pathophysiology of cardiovascular diseases and the explains the rationality behind ordering examinations. (bme.hu)
  • Acute kidney injury (AKI) is a life-threatening disease with high mortality characterized by an abrupt decrease of the kidney glomerular filtration rate, extra-kidney consequences (cardiovascular diseases, lung injury, neurological impairment) and high risk of secondary chronic kidney disease (CKD). (hrb.ie)
  • We are interested in the mechanisms underlying bone formation in development, adult homeostasis and fracture healing, but also in the significance of osteogenic cell biology in the broader physiological context of the organism, including hematopoiesis and global energy metabolism. (ectsoc.org)
  • In this webinar, professor of musculoskeletal biology, Rob van 't Hof, will discuss the application of micro-CT for the analysis and phenotyping of bone. (news-medical.net)
  • Because it's been positively selected, this gene variant is present in billions of people," said David Kingsley , PhD, professor of developmental biology at Stanford. (stanford.edu)
  • 2002-05: Scholarship at the Department of Cellular and developmental Biology, Faculty of Mathematics, Physics and Natural Sciences, University of Palermo. (ior.it)
  • MIUR grant within the framework of the PhD in Cellular and Developmental Biology, 17th cycle. (ior.it)
  • This year, we are taking a comprehensive look at hematopoietic stem cells: their biology, their failure in bone marrow syndromes, and their use in gene therapy approaches. (upenn.edu)
  • Trainees working in the broad area of hematopoietic stem cell biology or related disease and therapy areas are invited to submit abstracts for posters and consideration for lightning talks! (upenn.edu)
  • The future of advanced medicines relies upon deeper access to in vivo biology to create durable, curative impacts on disease. (upenn.edu)
  • The Pediatric Orthopaedic Center provides compassionate and comprehensive care to children of all ages who deal with complex and uncomfortable musculoskeletal issues that affect their bones, joints and muscles. (tgh.org)
  • But now it's utilized to address all the conditions and diseases affecting the musculoskeletal system in patients of all ages. (eternalhospital.com)
  • in 1903, he found cystine crystals in the liver and spleen of a 21-month-old infant and called the disease "a familial cystine diathesis. (medscape.com)
  • Long bone fractures in children under 3 years are the less than 1% of all fractures in children and adolescents and therefore very rarely in theirs etiology the metabolic disturbances of bone tissues are taken into the consideration (the prematurity osteopenia, rikets, osteoporosis). (osteoporoza.pl)
  • 3 "Isthmic" spondylolisthesis occurs when the bone above the joint fractures causing the vertebra to slip forward. (integrativelearningcenter.org)
  • The remainder are associated with other developmental anomalies termed syndromic deafness. (medscape.com)
  • We summarize specific cases to highlight core considerations that surround identification and return of incidental findings (uncertainty of disease onset, disease severity, age of onset, clinical actionability, and personal utility), and suggest that interpretation of incidental findings in pediatric patients can be difficult given evolving phenotypes. (biomedcentral.com)
  • Attendees will hear how micro-CT can be used to analyse mouse bone phenotypes and the bones' response to osteoporosis drugs, as well as how to look in vivo at the bone changes that occur in mice with Paget's disease over their lifespan. (news-medical.net)
  • People with sialic acid storage disease have signs and symptoms that may vary widely in severity. (medlineplus.gov)
  • Signs and symptoms of Salla disease include intellectual disability and developmental delay, seizures, problems with movement and balance (ataxia), abnormal tensing of the muscles (spasticity), and involuntary slow, sinuous movements of the limbs (athetosis). (medlineplus.gov)
  • People with intermediate severe Salla disease have signs and symptoms that fall between those of ISSD and Salla disease in severity. (medlineplus.gov)
  • It is not known how this buildup, or the disruption of other possible functions of sialin in the brain, causes the specific signs and symptoms of sialic acid storage disease. (medlineplus.gov)
  • When do symptoms of this disease begin? (nih.gov)
  • The most common ages for symptoms of a disease to begin is called age of onset. (nih.gov)
  • For some diseases, symptoms may begin in a single age range or several age ranges. (nih.gov)
  • For other diseases, symptoms may begin any time during a person's life. (nih.gov)
  • The common ages for symptoms to begin in this disease are shown above by the colored icon(s). (nih.gov)
  • Other signs and symptoms that develop over time include permanently bent fingers (camptodactyly), enlarged finger and knee joints (often mistaken as swelling), and a reduced amount of space between the bones at the hip and knee joints. (malacards.org)
  • Although most people have no symptoms, severe cases of vitamin D deficiency can lead to thin, brittle, or misshapen bones. (utphysicians.com)
  • Consider lead poisoning whenever a small child presents with peculiar symptoms that do not match any particular disease entity. (medscape.com)
  • Using the tools of molecular genetics we are elucidating the mechanisms by which GBA1 mutations and sphingolipid imbalance interfere with critical developmental pathways in different cell types affected by the disease. (umaryland.edu)
  • 5) It is mandatory to differentiate outcomes: "all that wheezes is not asthma" while different developmental pathways of allergy and asthma need to be acknowledged. (wjst.de)
  • The chronic lymphocytic leukemia and the sickle cell disease projects have recently received investigational new drug approval from the FDA and are in clinical trials. (addiandcassi.com)
  • Her previous experience includes working as a patient advocate for individuals with developmental disabilities. (aamds.org)
  • Using this unique "disease-in-a-dish" iPSC model, we found that the abnormal phenotype of Gaucher macrophages is not merely due to an accumulation of lipid, but there is also a defect in intracellular membrane transport, which blocks the flow of cargo (phagocytosed material, protein aggregates, organelles for recycling) to the lysosome. (umaryland.edu)
  • Diseases resulting in abnormal GROWTH or abnormal MORPHOGENESIS of BONES . (bvsalud.org)
  • Affected individuals have flattened bones in the spine (platyspondyly) that are abnormally shaped (beaked), which leads to an abnormal front-to-back curvature of the spine (kyphosis) and a short torso. (malacards.org)
  • There is a premature fusion of the cranial bones leading to abnormal bone growth. (cdc.gov)
  • Researchers have found 55 new chemicals in people's bodies, adding to existing concerns about the connection between chemicals and chronic disease. (convio.net)
  • Given what we know about the impact of environmental exposures on chronic disease and overall health, this development is extremely discouraging. (convio.net)
  • There is evidence that exposure to chemicals is one of the main drivers, if not the main driver, of the uptick in chronic disease. (convio.net)
  • Additional studies are required to understand how chronic exposure and accumulation of this leading environmental toxicant in vital organs negatively impact innate immune function and host defense leading to chronic disease in humans. (cdc.gov)
  • Low bone mineral density (osteopenia) indicates that some bones are less dense than is normal. (aidsmap.com)
  • Having low bone mineral density doesn't necessarily mean that you will develop osteoporosis or have a fracture. (aidsmap.com)
  • Its high-level X-ray absorption enables good contrast and the ability to observe bone in very fine detail, not only in bone density studies, but also those examining the actual architecture of the bone. (news-medical.net)
  • WU polyomavirus (WUPyV) was detected in a bone marrow transplant recipient with severe acute respiratory distress syndrome who died in 2001. (cdc.gov)
  • Other concerns related to the equine digestive system include strangulation of the intestines, peritonitis, liver diseases, acute diarrhea and constipation. (equimed.com)
  • Th2 cells are critical in maintaining both the state of chronic and relapsing eosinophil-predominant inflammation and the acute hypersensitivity responses characteristic of the atopic diseases. (jci.org)
  • The more severe mutations in types 2 and 3 Gaucher disease also cause neurological manifestations that are fatal. (umaryland.edu)
  • 7% of all Parkinson's disease (PD) cases also have heterozygote mutations in GBA1 , making them the highest known risk factor for PD. (umaryland.edu)
  • Mutations in the SLC17A5 gene cause all forms of sialic acid storage disease. (medlineplus.gov)
  • Approximately 20 mutations that cause sialic acid storage disease have been identified in the SLC17A5 gene. (medlineplus.gov)
  • This improves our understanding of how gene mutations lead to these diseases and allows us to better explore therapies. (edu.au)
  • GDF5 is involved in bone growth and joint formation, and mutations in the coding portion of the gene have been shown to cause malformations in leg-bone structure in mice. (stanford.edu)
  • The relationship of these diseases to various syndromes and/or known genetic mutations is also highlighted. (radiologykey.com)
  • Other specialists may also be involved including rheumatologists, allergists, and infectious disease doctors. (nih.gov)
  • We are working closely with our infectious disease experts, other health care entities, and federal, state, and local agencies to ensure our information is accurate and up to date. (utphysicians.com)
  • carrier or suspected carrier of infectious disease (Z22. (who.int)
  • This is the reason why basic knowledge of congenital heart disease are essential not just in pediatrics. (bme.hu)
  • The incidence of diabetes, obesity, and metabolic diseases has reached an epidemic status worldwide. (jbc.org)
  • Individuals with chronic medical conditions such as heart disease, diabetes, or pregnant people are more likely to experience severe or fatal infections if they are infected with COVID-19. (localcommunityhealth.com)
  • This will guide evaluation but is nonspecific and may be seen in various conditions, including malignancy, chronic hemolysis, chronic infection, metabolic disease, liver disease, and inflammatory disease. (medscape.com)
  • Based on the CDC , the total number of deaths in the US caused by alcoholic liver disease was pegged at around 19,000 plus. (iddidy.com)
  • This improved survival has not been observed in those with CF liver disease (CFLD). (hrb.ie)
  • When they introduced this nucleotide change into laboratory mice, they found that it decreased the activity of GDF5 in the growth plates of the long bones of fetal mice. (stanford.edu)
  • Newborns affected with this condition exhibit distinctive shortening and bowing of the long bones with reduced bone volume. (ox.ac.uk)
  • Osteogenesis imperfecta (brittle bone disease) is rarer, affecting about seven in 100,000 births. (edu.au)
  • Zoledronic acid prevents Pagetic-like lesions and accelerated bone loss in the p62P394L mouse model of Paget's disease. (news-medical.net)
  • Nearly 750 high-quality radiographs and color clinical photos facilitate the identification of lesions and diseases. (researchandmarkets.com)
  • High-resolution 3-T MR imaging helps characterize orbital and ocular soft-tissue lesions, permitting superior delineation of orbital soft tissues, cranial nerves, blood vessels, and blood flow and detection of intracranial extension of orbital disease. (radiologykey.com)
  • Although many lesions occurring in the oral cavity have got similar appearance as PG, a detailed history, clinical examination, and a proper treatment plan will be helpful to pinpoint the disease. (srmjrds.in)
  • The presence of albumin in the urine often symptomatic of kidney disease. (cdc.gov)
  • Adapted from the National Kidney Foundation's KDOQI guidelines for evaluation and stratification of chronic kidney disease (www.kidney.org). (cdc.gov)
  • Furthermore, lead exposure, at much lower levels than those causing lead nephropathy, acts as a cofactor with more established renal risk factors to increase the risk of chronic kidney disease , development of end-stage kidney disease, and the rate of progression. (medscape.com)
  • Obesity is a risk factor for both susceptibility to infections including postoperative infections and other nosocomial infections and the occurrence of a more severe disease course. (hrb.ie)
  • A decrease in bone mineral may be generalized as with certain metabolic bone diseases such as 2° hyperparathyroidism, regional as occurs with disuse atrophy, or focal as occurs with many neoplasms. (vin.com)
  • New bone may form in neoplasms arising from bone forming cell lines such as osteosarcoma and chondrosarcoma. (vin.com)
  • They use low doses of radiation and X-ray sensitive plates to capture detailed images of your child's tooth roots, jaw, and facial bone composition. (mcnuttdentistry.com)
  • The phenotype of Raine syndrome in the cases examined was remarkably consistent with generalized osteosclerosis of all bones, periosteal bone formation, characteristic facial phenotype and lethal within the first few weeks of life. (elsevier.com)
  • Jaundice isn't a disease itself but the name given to the yellow appearance of skin and the conjunctiva (whites) of the eyes. (findmeacure.com)
  • In some cases, an underlying disease may cause jaundice. (findmeacure.com)
  • This cartilage covers and protects the ends of bones, and its degeneration leads to pain and stiffness in the joints and other features of PPRD.PPRD usually begins in childhood, between ages 3 and 8. (malacards.org)
  • Bones, cartilage and joints allow us to move freely, but the way they grow and function can be faulty. (edu.au)
  • During this time she optimized novel transgenic mouse models for osteoblast lineage cell visualization and tracing, tools that led to new insights in the origin and behavior of osteoprogenitors and osteoblasts in bone development and fracture repair. (ectsoc.org)
  • Paget's disease of bone), post-Perthes deformity, osteomyelitis, and post traumatic (due to improper healing of a fracture between the greater and lesser trochanter). (morethingsjapanese.com)
  • Of the pediatric patients studied by Mansour's group who needed surgical treatment for their fracture or broken bone, 85% were vitamin D deficient. (utphysicians.com)
  • A more compact body structure due to shorter bones could have helped our ancestors better withstand frostbite and reduce the risk of bone fracture from falling, the researchers speculate. (stanford.edu)
  • 11) Young, giant-breed dogs fed a diet containing 3.3% calcium (dry matter basis) and 0.9% or 3% phosphorus have significantly increased incidence of developmental bone disease. (basset.net)
  • Over the course of her studies, Christa developed a strong interest in the molecular mechanisms underlying skeletal cell functions, in embryonic development as well as adult bone homeostasis, repair processes and diseases involving the skeleton. (ectsoc.org)
  • Role and regulation of vascularization processes in endochondral bones. (ectsoc.org)
  • These co-occurring hits involved known disease-associated genes such as SETD5 , AUTS2 , and NRXN1 , and were enriched for cellular and developmental processes. (nature.com)
  • Special emphasis on the Bones for Life ® (BFL) exercises (called processes) that teach alignment of the neck and the low back can be very helpful to students who have Spondylolithesis. (integrativelearningcenter.org)
  • Students are exposed to the developmental processes responsible for the unique structural and spatial relationships in the body. (iu.edu)
  • She also demonstrated failure to thrive, developmental delay, mild pulmonic stenosis, and gastroesophageal reflux. (cdc.gov)
  • The mutant iPSC-derived macrophages exhibit a striking delay in clearing of phagocytosed red blood cells, which recapitulates a characteristic hallmark of the disease (Panicker et al. (umaryland.edu)
  • Babies with this condition have severe developmental delay, weak muscle tone (hypotonia), and failure to gain weight and grow at the expected rate (failure to thrive). (medlineplus.gov)
  • This phenomenon was exemplified by our delineation of a 520-kbp deletion on chromosome 16p12.1 (OMIM 136570), which is associated with developmental delay and extensive phenotypic variability. (nature.com)
  • Hypotonia, developmental delay, and intellectual disability are common. (cdc.gov)
  • The manifestations in children include temperamental lability, irritability, behavioral changes, hyperactivity or decreased activity, loss of developmental milestones and language delay. (medscape.com)
  • Rob and team have used micro-CT to assess bone phenotype in transgenic mice, to test the efficacy of drugs targeting post-menopausal osteoporosis and to understand the bone condition Paget's disease. (news-medical.net)
  • A new NCHS Health E-Stat provides information on the percentage of U.S. adults aged 65 and over with osteoporosis and low bone mass at the femur neck or lumbar spine, using data from the 2005-2010 National Health and Nutrition Examination Survey. (cdc.gov)
  • Examples include achondroplasia, the most common type of dwarfism, and brittle bone disease, which is characterised by bones that break easily. (edu.au)
  • The overall goal of SBE's integrated basic, applied and clinical research plan is to advance cartilage, bone and joint regeneration. (ectsoc.org)
  • By viral-mediated introduction of the 4 Yamanaka factors (Oct4, Sox2, Klf4 and c-Myc) we have reprogrammed patient fibroblasts into iPSC representative of all 3 clinical subtypes of Gaucher disease. (umaryland.edu)
  • By directed differentiation of patient-derived iPSC to the affected cell types, we have recapitulated characteristic hallmarks of the disease, and obtained new mechanistic insights with important clinical implications for the treatment of GD and GBA1 -associated PD. (umaryland.edu)
  • The clinical diseases associated with these changes are osteochondrosis, retained cartilage cones, radius curvus syndrome, and stunted growth. (basset.net)
  • We analyzed quantitative clinical information, exome sequencing, and microarray data from 757 probands and 233 parents and siblings who carry disease-associated variants. (nature.com)
  • Coverage of basic science information and the clinical implications of disease within the rehabilitation process gives readers a solid background in common illnesses and diseases, adverse effects of drugs, organ transplantation, laboratory values, and much more. (elsevierhealth.com)
  • In this review, we provide an overall picture on the clinical, including long-term management, molecular and cellular aspects of SWS and discuss briefly other related bent bone dysplasias. (ox.ac.uk)
  • The emergence of these two newly recognized tickborne infections as threats to human health is probably due to increased clinical cognizance, but as in other emerging tickborne infections, it is likely that the rapid increase in identified cases signals a true emergence of disease associated with a changing vector-host ecology. (cdc.gov)
  • In the second side the small influence of negative environmental factors cause the necessity of the skeletal system assessment in the aim of explaining the ethiophatogenesis of bone mineralisation disturbances in the later periods of life, and difficult by the cause of lack of biological norms for this ages and the developmental differences infants and little children. (osteoporoza.pl)
  • Purpose: In patients with neuroblastoma (NB), minimal disease (MD) in bone marrow (BM) and peripheral blood (PB) is thought to play an important role in metastasis. (elsevier.com)
  • Their altered expression in malignancies dictates leukocyte recruitment and activation, angiogenesis, cancer cell proliferation, and metastasis in all the stages of the disease. (frontiersin.org)
  • The adjacent tooth had caries and exhibited Grade I mobility due to underlying periodontal disease. (srmjrds.in)
  • Chronic, high intake of calcium in large breeds has been associated with hypercalcemia, concomitant hypophosphatemia, rise in serum alkaline phosphatase, retarded bone maturation, higher percentage of total bone volume, retarded bone remodeling, decrease in osteoclasts, and retarded maturation of cartilage. (basset.net)
  • This condition is characterized by breakdown (degeneration) of the cartilage between bones (articular cartilage). (malacards.org)
  • the former causes Merkel cell carcinoma, a rare but aggressive skin cancer ( 3 ), and the latter is associated with trichodysplasia spinulosa, a rare skin disease seen in transplant recipients ( 2 ). (cdc.gov)
  • Leigh has dedicated more than a decade to serving patients, families, and loved ones in the rare bone marrow failure disease sector for AAMDSIF. (aamds.org)
  • Griscelli syndrome (GS) is a rare cutaneous disease characterized by a silvery-gray sheen of the hair and hypopigmentation of the skin, which can be associated to primary neurological impairment (type 1), immunologic impairment (type 2) or be isolated (type 3). (nih.gov)
  • Many rare diseases have limited information. (nih.gov)
  • Thank you Dr. Francis Collins, Dr. Chris Austin, Dr. John McKew and others at the NIH who are all involved in driving the National Institutes of Health's Therapeutics for Rare and Neglected Diseases (TRND) program forward. (addiandcassi.com)
  • We are also excited to see six new rare disease TRND initiatives getting under way. (addiandcassi.com)
  • The six new projects are part of the National Institutes of Health's Therapeutics for Rare and Neglected Diseases (TRND) program. (addiandcassi.com)
  • These projects reinforce NIH's commitment to translational research and the need to accelerate potential new treatments that benefit patients with rare and neglected diseases," said NIH Director Francis S. Collins, M.D., Ph.D. "It is wonderful that TRND scientists and their collaborators can advance such promising projects that may have otherwise remained stalled due to a lack of scientific or fiscal resources. (addiandcassi.com)
  • Congress created the TRND program to facilitate the development of new drugs for rare and neglected diseases. (addiandcassi.com)
  • and core binding factor leukemia, a rare blood and bone marrow cancer. (addiandcassi.com)
  • Fanconi anaemia ( FA ) is a rare genetic disease resulting in impaired response to DNA damage. (wikipedia.org)
  • Extreme difficulty in developing methods for cultivation of these ehrlichiae and, until recently, the lack of molecular approaches to the study of uncultivated organisms partly explain why these far from rare diseases were not detected sooner ( 3 - 5 ). (cdc.gov)
  • Waardenburg syndrome is a rare disease with an autosomal dominant mode of inheritance. (medscape.com)
  • Although it is a common disease in the skin, it is rare in the gastrointestinal tract, except for the oral cavity, [5] and it is mostly found in keratinized mucosa. (srmjrds.in)
  • Osteoblast recruitment to sites of bone formation in skeletal development, homeostasis, and regeneration. (ectsoc.org)
  • Treatment with androgens and hematopoietic (blood cell) growth factors can help bone marrow failure temporarily, but the long-term treatment is bone marrow transplant if a donor is available. (wikipedia.org)
  • [6] About 80% of FA will develop bone marrow failure by age 20. (wikipedia.org)
  • Allergists are frequently faced with patients simultaneously suffering from 3 diseases - asthma, atopic dermatitis, and allergic rhinitis, a constellation recognized as the "atopic triad. (jci.org)