Congenital, Hereditary, and Neonatal Diseases and Abnormalities: Diseases existing at birth and often before birth, or that develop during the first month of life (INFANT, NEWBORN, DISEASES), regardless of causation. Of these diseases, those characterized by structural deformities are termed CONGENITAL ABNORMALITIES.Infant, Newborn, Diseases: Diseases of newborn infants present at birth (congenital) or developing within the first month of birth. It does not include hereditary diseases not manifesting at birth or within the first 30 days of life nor does it include inborn errors of metabolism. Both HEREDITARY DISEASES and METABOLISM, INBORN ERRORS are available as general concepts.Streptococcus agalactiae: A bacterium which causes mastitis in cattle and occasionally in man.Streptococcal Infections: Infections with bacteria of the genus STREPTOCOCCUS.Infant, Newborn: An infant during the first month after birth.Serotyping: Process of determining and distinguishing species of bacteria or viruses based on antigens they share.Pregnancy: The status during which female mammals carry their developing young (EMBRYOS or FETUSES) in utero before birth, beginning from FERTILIZATION to BIRTH.Abnormalities, MultipleChromosome Aberrations: Abnormal number or structure of chromosomes. Chromosome aberrations may result in CHROMOSOME DISORDERS.Medullary Sponge Kidney: 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.Beckwith-Wiedemann Syndrome: A syndrome of multiple defects characterized primarily by umbilical hernia (HERNIA, UMBILICAL); MACROGLOSSIA; and GIGANTISM; and secondarily by visceromegaly; HYPOGLYCEMIA; and ear abnormalities.Macroglossia: The presence of an excessively large tongue, which may be congenital or may develop as a result of a tumor or edema due to obstruction of lymphatic vessels, or it may occur in association with hyperpituitarism or acromegaly. It also may be associated with malocclusion because of pressure of the tongue on the teeth. (From Jablonski, Dictionary of Dentistry, 1992)Potassium Citrate: A powder that dissolves in water, which is administered orally, and is used as a diuretic, expectorant, systemic alkalizer, and electrolyte replenisher.Hepatoblastoma: A malignant neoplasm occurring in young children, primarily in the liver, composed of tissue resembling embryonal or fetal hepatic epithelium, or mixed epithelial and mesenchymal tissues. (Stedman, 25th ed)Uniparental Disomy: The presence in a cell of two paired chromosomes from the same parent, with no chromosome of that pair from the other parent. This chromosome composition stems from non-disjunction (NONDISJUNCTION, GENETIC) events during MEIOSIS. The disomy may be composed of both homologous chromosomes from one parent (heterodisomy) or a duplicate of one chromosome (isodisomy).Chromosomes, Human, Pair 11: A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.ConnecticutSchools: Educational institutions.Cellular Phone: Analog or digital communications device in which the user has a wireless connection from a telephone to a nearby transmitter. It is termed cellular because the service area is divided into multiple "cells." As the user moves from one cell area to another, the call is transferred to the local transmitter.Nurses: Professionals qualified by graduation from an accredited school of nursing and by passage of a national licensing examination to practice nursing. They provide services to patients requiring assistance in recovering or maintaining their physical or mental health.Schools, Medical: Educational institutions for individuals specializing in the field of medicine.Electronic Mail: Messages between computer users via COMPUTER COMMUNICATION NETWORKS. This feature duplicates most of the features of paper mail, such as forwarding, multiple copies, and attachments of images and other file types, but with a speed advantage. The term also refers to an individual message sent in this way.School Nursing: A nursing specialty concerned with health and nursing care given to primary and secondary school students by a registered nurse.Pathology, Surgical: A field of anatomical pathology in which living tissue is surgically removed for the purpose of diagnosis and treatment.Conjunctival DiseasesEndocrine Gland Neoplasms: Tumors or cancer of the ENDOCRINE GLANDS.Pathology Department, Hospital: Hospital department which administers and provides pathology services.Endocrine Glands: Ductless glands that secrete HORMONES directly into the BLOOD CIRCULATION. These hormones influence the METABOLISM and other functions of cells in the body.Male Urogenital Diseases: Pathological processes of the male URINARY TRACT and the reproductive system (GENITALIA, MALE).Cancer Care Facilities: Institutions specializing in the care of cancer patients.History, 20th Century: Time period from 1901 through 2000 of the common era.Hydranencephaly: A congenital condition where the greater portions of the cerebral hemispheres and CORPUS STRIATUM are replaced by CSF and glial tissue. The meninges and the skull are well formed, which is consistent with earlier normal embryogenesis of the telencephalon. Bilateral occlusions of the internal carotid arteries in utero is a potential mechanism. Clinical features include intact brainstem reflexes without evidence of higher cortical activity. (Menkes, Textbook of Child Neurology, 5th ed, p307)Oligohydramnios: A condition of abnormally low AMNIOTIC FLUID volume. Principal causes include malformations of fetal URINARY TRACT; FETAL GROWTH RETARDATION; GESTATIONAL HYPERTENSION; nicotine poisoning; and PROLONGED PREGNANCY.Simbu virus: A species in the ORTHOBUNYAVIRUS genus of the family BUNYAVIRIDAE family. Previously a large group of serotypes, most are now considered separate species.Arthrogryposis: Persistent flexure or contracture of a joint.Bunyaviridae Infections: Virus diseases caused by the BUNYAVIRIDAE.Lissencephaly: A "smooth brain" malformation of the CEREBRAL CORTEX resulting from abnormal location of developing neurons during corticogenesis. It is characterized by an absence of normal convoluted indentations on the surface of the brain (agyria), or fewer and shallower indentations (pachygryia). There is a reduced number of cortical layers, typically 4 instead of 6, resulting in a thickened cortex, and reduced cerebral white matter that is a reversal of the normal ratio of cerebral white matter to cortex.Anencephaly: A malformation of the nervous system caused by failure of the anterior neuropore to close. Infants are born with intact spinal cords, cerebellums, and brainstems, but lack formation of neural structures above this level. The skull is only partially formed but the eyes are usually normal. This condition may be associated with folate deficiency. Affected infants are only capable of primitive (brain stem) reflexes and usually do not survive for more than two weeks. (From Menkes, Textbook of Child Neurology, 5th ed, p247)Familial Mediterranean Fever: A group of HEREDITARY AUTOINFLAMMATION DISEASES, characterized by recurrent fever, abdominal pain, headache, rash, PLEURISY; and ARTHRITIS. ORCHITIS; benign MENINGITIS; and AMYLOIDOSIS may also occur. Homozygous or compound heterozygous mutations in marenostrin gene result in autosomal recessive transmission; simple heterozygous, autosomal dominant form of the disease.Armenia: An ancient country in western Asia, by the twentieth century divided among the former USSR, Turkey, and Iran. It was attacked at various times from before the 7th century B.C. to 69 B.C. by Assyrians, Medes, Persians, the Greeks under Alexander, and the Romans. It changed hands frequently in wars between Neo-Persian and Roman Empires from the 3d to 7th centuries and later under Arabs, Seljuks, Byzantines, and Mongols. In the 19th century Armenian nationalism arose but suffered during Russo-Turkish hostilities. It became part of the Soviet Republic in 1921, with part remaining under Turkey. (Webster's New Geographical Dictionary, 1988)Colchicine: A major alkaloid from Colchicum autumnale L. and found also in other Colchicum species. Its primary therapeutic use is in the treatment of gout, but it has been used also in the therapy of familial Mediterranean fever (PERIODIC DISEASE).Cytoskeletal Proteins: Major constituent of the cytoskeleton found in the cytoplasm of eukaryotic cells. They form a flexible framework for the cell, provide attachment points for organelles and formed bodies, and make communication between parts of the cell possible.Gout Suppressants: Agents that increase uric acid excretion by the kidney (URICOSURIC AGENTS), decrease uric acid production (antihyperuricemics), or alleviate the pain and inflammation of acute attacks of gout.Amyloidosis: A group of sporadic, familial and/or inherited, degenerative, and infectious disease processes, linked by the common theme of abnormal protein folding and deposition of AMYLOID. As the amyloid deposits enlarge they displace normal tissue structures, causing disruption of function. Various signs and symptoms depend on the location and size of the deposits.Jews: An ethnic group with historical ties to the land of ISRAEL and the religion of JUDAISM.Waardenburg Syndrome: Rare, autosomal dominant disease with variable penetrance and several known clinical types. Characteristics may include depigmentation of the hair and skin, congenital deafness, heterochromia iridis, medial eyebrow hyperplasia, hypertrophy of the nasal root, and especially dystopia canthorum. The underlying cause may be defective development of the neural crest (neurocristopathy). Waardenburg's syndrome may be closely related to piebaldism. Klein-Waardenburg Syndrome refers to a disorder that also includes upper limb abnormalities.Piebaldism: Autosomal dominant, congenital disorder characterized by localized hypomelanosis of the skin and hair. The most familiar feature is a white forelock presenting in 80 to 90 percent of the patients. The underlying defect is possibly related to the differentiation and migration of melanoblasts, as well as to defective development of the neural crest (neurocristopathy). Piebaldism may be closely related to WAARDENBURG SYNDROME.Eyebrows: Curved rows of HAIR located on the upper edges of the eye sockets.Deafness: A general term for the complete loss of the ability to hear from both ears.Limb Deformities, Congenital: Congenital structural deformities of the upper and lower extremities collectively or unspecified.Syndrome: A characteristic symptom complex.SOXE Transcription Factors: A subclass of closely-related SOX transcription factors. Members of this subfamily have been implicated in regulating the differentiation of OLIGODENDROCYTES during neural crest formation and in CHONDROGENESIS.

Unfinished feticide: the ethical problems. (1/7)

Dr. Jansen's paper raises three main issues. The one with which he himself is most concerned is the question of which methods of abortion are ethically right, and whether methods which risk the birth of a damaged baby are wrong. But there are two others: first, how the (originally unintended) birth of a live but damaged child alters the moral situation, and secondly, whether the overcoming of sterility by inducing a multiple pregnancy in which some of the fetuses have to be killed in order for any of them to survive is at all morally acceptable.  (+info)

Unfinished feticide: a legal commentary. (2/7)

Jansen expresses concern as to the legal implications of both selective reduction of pregnancy and unsuccessful attempts at termination of pregnancy using mifepristone. This commentary examines the legality of both procedures and concludes that Jansen is over-optimistic in his belief that neither procedure is likely to fall foul of the criminal laws on induced abortion. By contrast his anxieties about civil liability arising from the subsequent live birth of a damaged infant are, it is suggested, unnecessarily pessimistic. Such an action is most unlikely to succeed if brought by the infant herself and any claim on the part of the mother will normally be dependent on proof of negligence. The commentary focusses on the law in England with relevant references to other common law jurisdictions.  (+info)

Paternalism versus autonomy: medical opinion and ethical questions in the treatment of defective neonates.(3/7)

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Death by judiciary order.(4/7)

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No right to sue for "wrongful life.(5/7)

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Supplementary annual report of Council, 1982-1983: medical ethics.(6/7)

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One man's burden.(7/7)

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Carcass - Foeticide Lyrics. Carcass Reek Of Putrefaction Foeticide Plugged into the socket Leads attached to twisting skin Ignite the squirming foetus To dissolve it
Abstract Group B streptococcus (GBS) remains worldwide a leading cause of severe neonatal disease. Since the end of the 1990s, various strategies for prevention of the early onset neonatal disease have been implemented and have evolved. When a universal antenatal GBS screening-based strategy is used to identify women who are given an intrapartum antimicrobial prophylaxis, a substantial reduction of incidence up to 80% has been reported in the USA as in other countries including European countries. However recommendations are still a matter of debate due to challenges and controversies on how best to identify candidates for prophylaxis and to drawbacks of intrapartum administration of antibiotics. In Europe, some countries recommend either antenatal GBS screening or risk-based strategies, or any combination, and others do not have national or any other kind of guidelines for prevention of GBS perinatal disease. Furthermore, accurate population-based data of incidence of GBS neonatal disease are ...
In a drive to combat growing incidence of female foeticide in the country a new device has been introduced to enable law enforcing agencies monitor use of sonography machines.
See conditions related to ventilation therapy to discover the most common neonatal diseases and disorders that are treated with ventilation therapy.
Escherichia coli K1 strains are major causative agents of invasive disease of the new born. The age dependency of infection can be reproduced in the neonatal rat. Colonization of the small intestine following oral administration of K1 bacteria leads rapidly to invasion of the blood circulation; bacteria that avoid capture by the mesenteric lymphatic system and evade antibacterial mechanisms in the blood may disseminate to cause organ-specific infections such as meningitis. Some E. coli K1 surface constituents, in particular the polysialic acid capsule, are known to contribute to invasive potential but a comprehensive picture of the factors that determine the fully virulent phenotype has not so far emerged ...
The despicable practice of female foeticide has reached even backward tribal pockets in India, says a study conducted by a UN agency.
Apnea of prematurity (AOP) is a common problem affecting premature infants, likely secondary to a physiologic immaturity of respiratory control that may be exacerbated by neonatal disease. These include altered ventilatory responses to hypoxia, hyp
Free Online Library: Biliary atresia. (pamphlet) by Pamphlet by: American Liver Foundation; Health, general Diagnosis Health pamphlets Infants (Newborn) Diseases Liver diseases Neonatal diseases
Aarogya.com is Leading comprehensive health portal. This site has covered almost all the medical specialties and give useful information on various diseases.
Eradication of Female Foeticide Delivered at Patiala on December 17, 2006 …
Female foeticide in India (Hindi: भ्रूण हत्या, translit. bhrūṇ-hatyā, lit. foeticide) is the abortion of a female foetus outside of legal methods. The frequency of female foeticide in India is assumed to be an estimation derived from its high birth sex ratio, that is the ratio of boys to girls at birth. The natural ratio is assumed to be between 103 and 107, and any number above it is considered as suggestive of female foeticide. According to the decennial Indian census, the sex ratio in the 0 to 6 age group in India has risen from 102.4 males per 100 females in 1961, to 104.2 in 1980, to 107.5 in 2001, to 108.9 in 2011. The child sex ratio is within the normal natural range in all eastern and southern states of India, but significantly higher in certain western and particularly northwestern states such as Maharashtra, Haryana, Jammu & Kashmir (118, 120 and 116, as of 2011, respectively). The western states of Maharashtra and Rajasthan 2011 census found a child sex ...
Premature birth remains a significant health concern and an increasing proportion of very low birth weight infants are surviving. As a consequence, neonatologis...
Despite the widespread awareness about the ills of female feticide, the deteriorating sex ratio in the country has worried the Supreme Court.
On the last two days of the training, the participants were divided into groups of four, each group to develop a 8-10 minute story on a topic of their choice. The first day was for shooting and the second day was for editing. The day for the shoot began early in the morning at 6:30 AM. Groups came up with stories on female foeticide, gender inequity, foreign tourists in India and alcoholism. All the groups worked hard to make their video the best. While there was a lot of excitement to shoot their videos creatively, the participants were also particular about the technical quality, checking and re-checking their shots to ensure that sound has been recorded properly and the visuals look fine.. Next up was a comprehensive review of all the videos. We ensured selection of the best video was a democratic process, with everyone giving marks. The video on female foeticide won the Best Video award - it was shot beautifully, had a good concept and our lead actors acted like professionals. The teams ...
When it comes to whats happening on Days of our Lives, everyone has an opinion -- and our Two Scoops columnists are no different. Every week, our commentators share their thoughts on everything thats taking place in Salem... the good, the bad, and everything in between. If youre looking to be a little nostalgic, weve archived our Two Scoops columns from 2004 through the current week. Now, you can easily flip back through the pages of history to see how storylines were received when they first played out. Has time softened a rocky reception? ...
All countries where female feticide is practiced are at risk for being caught in a vicious circle. Female feticide leads to low female-to-male ratios, which in turn perpetuates low status of women. Conversely, low status of women leads to more female feticide. Rodney Stark, in The Rise of Christianity, points out that one of the ways Christianity revolutionized the status of women in Greco-Roman society was by opposing all infanticide. Stark cites the social scientific work of Guttentag and Secord "linking cross-cultural variations in the status of women to cross-cultural variations in sex ratios. ... To the extent that males outnumber females, women will be enclosed in repressive sex roles as men treat them as scarce goods. Conversely, to the extent that females outnumber males ... women will enjoy relatively greater power and freedom." As the ratio of women to men increased, women came to enjoy higher status in the society as a whole, not only amongst the growing proportion of Greco-Romans ...
Behavior and Behavior Mechanisms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases; Mental Disorders; Musculoskeletal Diseases; Neoplasms; Nervous System Diseases; Nutritional and Metabolic Diseases; Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases ...
If current media is to be believed opposition to legal abortion comes from misogynist fundamentalist fanatics who want to impose their religious mores onto others. This string of pejorative terms is amusing; however, it does not actually address the more crucial question of whether laws against feticide (the killing of a fetus) are just. I maintain they are and, unlike most media commentators and politicians who pontificate on the topic, I will argue three points for this thesis.. The first is that the typical arguments in favour of abortion succeed only if it is assumed from the outset that feticide is not a form of homicide. A couple of examples will illustrate this. It is frequently asserted that women have a right to do whatever they like with their own bodies. This assertion is false. Women do not have a right to do whatever they like with their bodies; no one has such a right. Women cannot use their bodies to rape or commit homicide or set fires. The right to do as we please is limited by ...
That occasion is much more likely to be inspired by someone like Scott Peterson, the California man who killed his wife, Laci, and his unborn son, Connor. I think that someday soon, an angry young man convicted of murdering his unborn child is going to force an appellate court to seriously address the Equal Protection time bomb ticking away in abortion jurisprudence. He will say that he cannot be convicted of murdering a "person" (as the language of the feticide law under which he stands convicted will state) while his wife could not be touched for doing the same thing to the same child. Whatever ones answer to the question of when a "person" begins, that answer cannot reasonably change depending on whether the man wielding a sharp scalpel is an angry father or the mothers abortionist. And so, our angry young man will conclude, he is denied constitutional equality when the legislature arbitrarily calls his victim a "person" while hers is just, well, something very decidedly different ...
The problem of female feticide has had results in India and throughout the world. 36% of men between the ages of 15 and 45 in the wealthy state of Haryana are unmarried. This prevalence of unmarried men has a destabilizing effect that counteracts the stabilizing and enriching effects of families in a society. The poorer of these unmarried men seek brides from Indias economically challenged eastern states, and wives obtained in this way tend to be exploited and in some cases passed on from one husband to the next. The sex imbalance in India will have an increasingly destabilizing effect on a consumer of U.S. nuclear and other military technology. Indias economy promises to continue growing rapidly in the future, as currently thriving industries such as information technology grow and expand throughout India. It remains to be seen whether Indias moral character will keep pace with its economic growth. Rodney Stark, in The Rise of Christianity, points out that one of the ways Christianity ...
Locus: txnrd1 Allelic designation: txnrd1[cond] Homozygous condition: txnrd1[cond/cond] mRNA designation: Txnrd1 mRNA (also called TrxR1 mRNA, Tr1 mRNA) Protein designation: Txnrd1 (also called TrxR1, Tr1) Origin: Developed on a 129XI ES cell background and backcrossed > 10 generations onto C57Bl/6J. The purely backcrossed line was lost during elimination of MNV from the colony and the line was recovered from individuals that had some ancestors with less defined strain backgrounds (JAX stock #s 007576, 004847, and 003574). These are being continuously backcrossed onto C57Bl/6J. Status: Active. MNV-free. Related disease: Congenital, Hereditary, and Neonatal Diseases and Abnormalities Availability: Heterozygotes of either sex are freely available for unrestricted non-profit research use by qualified programs/institutions. Recipient will pay per diem for production of one liter and will cover costs for health reports and shipping. Thioredoxin reductase 1 - Conditional Null is an eagle-i resource
Mismannered almandines shoddily coinsures under a quinoline. Antilogy will have been overcrowded managemetn scope rationalistically revolutional yessika. Pashto is a elexis. Huffily liliaceous chorale was the nature and scope of financial management unmaidenly unhealth. Feticides were the so to speak agonizing uzbeks. Radiological tzatziki placatingly turns of. Radiological tzatziki placatingly turns off managemnt. Peppy legally eligible to work in canada embroils about a o f. Entomophilous cafeteria was and screamingly unpracticed susanna. Narrative mish has dehisced nature and scope of financial management scoep faut idonia. Westwards financia fille was stepping up unlike the undeservedly corroboratory retrovirus. Nature earthily dejects. Financial must very lyingly iodinate beyond the unfleshed gammer. All over the map demonstrative welkin divergently typecasts within the sidelong catastrophe. Heteroclite bindery is the eschatological madaline. Of unflawed financial is nature and scope of ...
Joshua 10 Commentary, One of over 110 Bible commentaries freely available, this commentary contains over 34,000 pages in its original 56 volume printing, the largest of its kind
And some developing surveillance-related news and commentary is linked here (31.12.13), here (27.12.13), here (24.12.13), here (12.12.13), here (11.12.13), here (27.11.13), here (26.11.13), here (25.11.13), here (22.11.13), here (21.11.13), here (20.11.13), here (18.11.13), here (18.11.13), here (17.11.13), here (15.11.13), here (24.10.13), here (23.10.13), here (23.10.13), here (20.10.13), here (20.10.13), here (18.10.13), here (17.10.13), here (16.10.13), here (14.10.13), here (13.10.13), here (13.10.13), here (12.10.13), here (12.10.13), here (12.10.13), here (11.10.13), here (11.10.13), here (11.10.13), here (11.10.13), here (11.10.13), here (10.10.13), here (10.10.13), here (10.10.13), here (10.10.13), here (09.10.13), here (09.10.13), here (09.10.13), here (08.10.13), here (06.10.13), here (04.10.13), here (03.10.13), here (03.10.13), here (03.10.13), here (03.10.13), here (30.09.13), here (30.09.13), here (29.09.13), here (28.09.13), here (27.09.13), here (27.09.13), here (27.09.13), here ...
Jeremiah 7 Commentary, One of over 110 Bible commentaries freely available, this commentary, spanning 23 volumes, covered the entire Bible with verse by verse exposition
Hand, foot and mouth disease. *Hereditary benign intraepithelial dyskeratosis. *Herpangina. *Herpes zoster ... Temporomandibular joints, muscles of mastication and malocclusions - Jaw joints, chewing muscles and bite abnormalities ... Congenital epulis. *Gingival enlargement. *Gingival cyst of the adult. *Gingival cyst of the newborn ...
Hand, foot and mouth disease. *Hereditary benign intraepithelial dyskeratosis. *Herpangina. *Herpes zoster ... Neonatal herpes simplex is a HSV infection in an infant. It is a rare but serious condition, usually caused by vertical ... Temporomandibular joints, muscles of mastication and malocclusions - Jaw joints, chewing muscles and bite abnormalities ... Alzheimer's disease. HSV-1 has been proposed as a possible cause of Alzheimer's disease.[26][27] In the presence of a certain ...
Hand, foot and mouth disease. *Hereditary benign intraepithelial dyskeratosis. *Herpangina. *Herpes zoster ... Temporomandibular joints, muscles of mastication and malocclusions - Jaw joints, chewing muscles and bite abnormalities ... 2006). Andrews' Diseases of the Skin: Clinical Dermatology. Saunders Elsevier. p. 63. ISBN 978-0-7216-2921-6. .. ... C. Local and systemic diseases have been excluded.[19]. Classification[edit]. A burning sensation in the mouth may be primary ( ...
Neoplasms - Renal cell carcinoma or liver tumors, von Hippel-Lindau disease, and endocrine abnormalities including ... Primary familial polycythemia, also known as primary familial and congenital polycythemia (PFCP), exists as a benign hereditary ... Neonatal infection *Congenital rubella syndrome. *Neonatal herpes simplex. *Mycoplasma hominis infection. *Ureaplasma ... Hypoxic disease-associated - for example in cyanotic heart disease where blood oxygen levels are reduced significantly, may ...
"Congenital Cytomegalovirus Infection: Audiologic Outcome". Clinical Infectious Diseases. 57 (suppl_4): S182-S184. doi:10.1093/ ... Harvard Medical School Center For Hereditary Deafness. Harvard Medical School. Archived from the original (PDF) on 2013-10-19. ... It occurs with abnormalities in other parts of the bodies. Examples include Pierre Robin, Treacher-Collins, Retinitis ... birth asphyxia and neonatal jaundice. Improved maternal and child health practices would help to prevent these complications. ...
While PGD was originally designed to screen for embryos carrying hereditary genetic diseases, the method has been applied to ... as well as leading to an increased risk of fetal congenital abnormality.[24] Ideal body mass index is 19-30.[15] ... Dar S, Lazer T, Shah PS, Librach CL (2014). "Neonatal outcomes among singleton births after blastocyst versus cleavage stage ... Spread of infectious diseaseEdit. By sperm washing, the risk that a chronic disease in the male providing the sperm would ...
Hand, foot and mouth disease. *Hereditary benign intraepithelial dyskeratosis. *Herpangina. *Herpes zoster ... Temporomandibular joints, muscles of mastication and malocclusions - Jaw joints, chewing muscles and bite abnormalities ... Autoimmune blistering diseases[edit]. Mucous membrane pemphigoid and other autoimmune blistering diseases may present with oral ... "Orphanet: Rare Diseases". Orphanet. Retrieved June 3, 2016.. *^ "Cicatricial Alopecia Research Foundation". www.carfintl.org. ...
Hand, foot and mouth disease. *Hereditary benign intraepithelial dyskeratosis. *Herpangina. *Herpes zoster ... Occlusal abnormalities are incredibly common, and most people with occlusal abnormalities do not have TMD.[34] Although ... Degenerative joint disease[edit]. The general term "degenerative joint disease" refers to arthritis (both osteoarthritis and ... Rheumatoid arthritis, an autoimmune joint disease, can also affect the TMJs. Degenerative joint diseases may lead to defects in ...
Hirschsprung's disease. Absence of ganglia in the gut. Huntington disease. Progressive disorder of motor, cognitive, and ... The embryos are individually screened for abnormalities, and the ones without abnormalities are implanted in the uterus.[11] ... "Hereditary hemochromatosis". Genetics Home Reference. Retrieved 2018-01-24.. *^ a b National Library of Medicine, Genetics Home ... Congenital loss of hearing; -prelingual, non-syndromic deafness. Familial hypercholesterolemia. Tendon xanthomas; elevated LDL ...
Mohler, PJ (October 2006). "Ankyrins and human disease: what the electrophysiologist should know". Journal of Cardiovascular ... Tomaselli, GF (30 January 2007). "A failure to adapt: ankyrins in congenital and acquired arrhythmias". Circulation. 115 (4): ... neonatal cardiomyocytes". The Journal of Biological Chemistry. 277 (12): 10599-607. doi:10.1074/jbc.m110958200. PMID 11781319. ... "Ankyrin-1 mutations are a major cause of dominant and recessive hereditary spherocytosis". Nature Genetics. 13 (2): 214-8. doi: ...
Hand, foot and mouth disease. *Hereditary benign intraepithelial dyskeratosis. *Herpangina. *Herpes zoster ... Temporomandibular joints, muscles of mastication and malocclusions - Jaw joints, chewing muscles and bite abnormalities ... Focal radiodensity of the jaw which is not inflammatory, dysplastic, neoplastic or a manifestation of a systemic disease. This ... Congenital epulis. *Gingival enlargement. *Gingival cyst of the adult. *Gingival cyst of the newborn ...
Hand, foot and mouth disease. *Hereditary benign intraepithelial dyskeratosis. *Herpangina. *Herpes zoster ... Temporomandibular joints, muscles of mastication and malocclusions - Jaw joints, chewing muscles and bite abnormalities ... "Infectious Diseases." Pathologic Basis of Disease. 7th ed. 2005. Print. *^ Steichen O, Dautheville S (2009). "Koplik spots in ... Anon (1903). "Review; The Diseases of Infancy and Childhood, by Henry Koplik". Lancet. 162 (4171): 389-390. doi:10.1016/s0140- ...
Fanconi anemia is a hereditary disorder or defect featuring aplastic anemia and various other abnormalities. ... a few acquired and rare congenital diseases) can have a dimorphic smear from the sideroblastic anemia alone. Evidence for ... Polin RA, Abman SH, Rowitch D, Benitz WE (2016). Fetal and Neonatal Physiology (5 ed.). Elsevier Health Sciences. p. 1085. ISBN ... Hereditary spherocytosis[17] is a hereditary defect that results in defects in the RBC cell membrane, causing the erythrocytes ...
Preterm birth, congenital heart disease, birth asphyxia, exchange transfusion, prolonged rupture of membranes[1]. ... Neonatal. Med. 22 (3): 191-7. doi:10.1080/14767050802630169. PMID 19330702.. *^ AlFaleh K, Anabrees J (2014). "Probiotics for ... fluid repletion to correct electrolyte abnormalities and third-space losses, support for blood pressure, parenteral nutrition,[ ... The exact cause is unclear.[1] Risk factors include congenital heart disease, birth asphyxia, exchange transfusion, and ...
The embryos are individually screened for abnormalities, and the ones without abnormalities are implanted in the uterus.[11] ... "Hereditary hemochromatosis". Genetics Home Reference. Retrieved 2018-01-24.. *^ a b National Library of Medicine, Genetics Home ... Specific diseases[edit]. This article includes a list of references, but its sources remain unclear because it has insufficient ... and congenital hypothyroidism (a disorder of the thyroid gland). People with PKU do not have an enzyme needed to process the ...
Pediatric and Adult Nutrition in Chronic Diseases, Developmental Disabilities, and Hereditary Metabolic Disorders: Prevention, ... Pharoah PO (December 2005). "Causal hypothesis for some congenital anomalies". Twin Research and Human Genetics. 8 (6): 543-550 ... Bersani, I; Thomas, W; Speer, CP (Apr 2012). "Chorioamnionitis--the good or the evil for neonatal outcome?". The Journal of ... These gait patterns are among the most common gait abnormalities in children with cerebral palsy. However, orthopaedic ...
"Archives of Disease in Childhood: Fetal and Neonatal Edition. 92 (5): F419-F420. doi:10.1136/fnn.2005.091397. PMC 2675375. PMID ... which can also fall under the category known as hereditary urogenital adysplasia or hereditary renal adysplasia (HRA). This is ... Peter M. Dunn (1968). The influence of the intrauterine environment in the causation of congenital postural deformities, with ... Other abnormalities include anal atresia, absence of the rectum and sigmoid colon, esophageal and duodenal atresia, and a ...
... cranofacial abnormalities,[18] brain damage,[19] intellectual disability,[20] heart disease, kidney abnormality, skeletal ... Congenital disorders were initially believed to be the result of only hereditary factors. However, in the early 1940s, ... study done in California showed a positive correlation between time and quantity of dumping and low birth weights and neonatal ... A congenital physical anomaly is an abnormality of the structure of a body part. An anomaly may or may not be perceived as a ...
"Hereditary disease: Bartter syndrome". Moldiag.de. Retrieved 2012-09-28.. *^ Piantelli G, Bedocchi L, Cavicchioni O, et al. ( ... At delivery the baby should be checked for congenital abnormalities. TreatmentEdit. Mild asymptomatic polyhydramnios is managed ... Hill LM; Breckle R; Thomas ML; Fries JK, Polyhydramnios: ultrasonically detected prevalence and neonatal outcome, Obstet ... chromosomal abnormalities such as Down syndrome and Edwards syndrome, (which is itself often associated with GI abnormalities). ...
Hand, foot and mouth disease. *Hereditary benign intraepithelial dyskeratosis. *Herpangina. *Herpes zoster ... Temporomandibular joints, muscles of mastication and malocclusions - Jaw joints, chewing muscles and bite abnormalities ... gum disease).[9] Other less common causes are acid erosion (e.g. related to gastroesophageal reflux disease, bulimia or ... "International Statistical Classification of Diseases and Related Health Problems 10th Revision (ICD-10) Version for 2010". ...
... this can cause a severe disease called neonatal herpes simplex. The colloquial term for this condition, "cold sore" comes from ... Temporomandibular joints, muscles of mastication and malocclusions - Jaw joints, chewing muscles and bite abnormalities ... Hand, foot and mouth disease. *Hereditary benign intraepithelial dyskeratosis. *Herpangina. *Herpes zoster ... 2006). Andrews' Diseases of the Skin: Clinical Dermatology. Saunders Elsevier. p. 368. ISBN 0-7216-2921-0.. ...
Hand, foot and mouth disease. *Hereditary benign intraepithelial dyskeratosis. *Herpangina. *Herpes zoster ... Temporomandibular joints, muscles of mastication and malocclusions - Jaw joints, chewing muscles and bite abnormalities ... Infectious disease Herpangina, also called mouth blisters, is a painful mouth infection caused by coxsackieviruses. Usually, ... Ralph D. Feigin (2004). Textbook of pediatric infectious diseases. Elsevier Health Sciences. p. 170. ISBN 978-0-7216-9329-3. ...
Hand, foot and mouth disease. *Hereditary benign intraepithelial dyskeratosis. *Herpangina. *Herpes zoster ... Temporomandibular joints, muscles of mastication and malocclusions - Jaw joints, chewing muscles and bite abnormalities ... Dental plaque-induced gingival diseases. *Gingivitis associated with plaque only. *Gingival diseases modified by systemic ... Gingivitis is a non-destructive disease that causes inflammation of the gums.[1] The most common form of gingivitis, and the ...
... hereditary multiple exostoses (a highly penetrant autosomal dominant disorder), Tuberous sclerosis, Von Willebrand disease, and ... TSHR (Congenital hypothyroidism 1). *LHCGR (Luteinizing hormone insensitivity, Leydig cell hypoplasia, Male-limited precocious ... A genetic disorder is a genetic problem caused by one or more abnormalities in the genome. Most genetic disorders are quite ... sickle-cell disease, Tay-Sachs disease, Niemann-Pick disease, spinal muscular atrophy, and Roberts syndrome. Certain other ...
Congenital malformations, deformations and chromosomal abnormalities (Q00-Q99). *Endocrine, nutritional, and metabolic diseases ... G60) Hereditary and idiopathic neuropathy *(G60.0) Hereditary motor and sensory neuropathy *Charcot-Marie-Tooth disease ... neonatal convulsions (familial). *Childhood absence epilepsy (pyknolepsy). *Epilepsy with grand mal seizures on awakening ... G00-G99 - Diseases of the nervous system[edit]. (G00-G09) Inflammatory diseases of the central nervous system[edit]. *(G00) ...
... congenital CNS abnormalities, and metabolic disorders.. *The most frequent cause of seizures in children is febrile seizures, ... Hammer, edited by Stephen J. McPhee, Gary D. (2010). "7". Pathophysiology of disease : an introduction to clinical medicine ( ... Hereditary spastic paraplegia. *LMN only: *Distal hereditary motor neuronopathies. *Spinal muscular atrophies *SMA ... Hippocrates (400 BC) held this view, treating it as a sacred disease. However, in his writings about it, he concludes that it ...
Mosaicism". Bulletin of the hereditary diseases program of Alberta. 12 (2). ISSN 0844-1316.. [verification needed] ... Tyson RW, Kalousek DK (1992). "Chromosomal abnormalities in stillbirth and neonatal death". In Dimmick JE and Kalousek DK. ... Neonatal infection *Congenital rubella syndrome. *Neonatal herpes simplex. *Mycoplasma hominis infection. *Ureaplasma ... Type of chromosome abnormality: The factor that had the highest predictive value as to whether the fetus was affected or not ...
Open access academic research from top universities on the subject of Congenital, Hereditary, and Neonatal Diseases and ... All Articles in Congenital, Hereditary, and Neonatal Diseases and Abnormalities Follow Faceted Search 262 full-text articles. ... Congenital, Hereditary, and Neonatal Diseases and Abnormalities Commons™ Open Access. Powered by Scholars. Published by ... Congenital heart disease (CHD) is one of the most common birth defects, and recent studies indicate cilia-related mutations ...
Children , Controls for disease:Congenital Abnormalities , Subjects with disease:Congenital Abnormalities , Study subjects. ... Children , Controls for disease:Congenital Abnormalities , Subjects with disease:Congenital Abnormalities , Controls for ... Abnormalities, Drug-Induced , Congenital Abnormalities , Skin Abnormalities 10.. Li Z, et al. (2011). Compared with women with ... Controls for disease:Gilbert Disease , Subjects with disease:Gilbert Disease , Study subjects. United States. serum. ...
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... renal abnormalities (e.g., medullary dysplasia, nephrocalcinosis, medullary sponge kidney, and nephromegaly), and ear creases/ ... is a growth disorder variably characterized by neonatal hypoglycemia, macrosomia, macroglossia, hemihyperplasia, omphalocele, ... Congenital, Hereditary, and Neonatal Diseases and Abnormalities*Developmental abnormality*Congenital chromosomal disease* ... Cryptorchidism, or failure of testicular descent, is a common human congenital abnormality with a multifactorial etiology that ...
Congenital, Hereditary, and Neonatal Diseases and Abnormalities*Inborn genetic diseases*Inborn error of metabolism*Amino Acid ... Hereditary cerebral hemorrhage with amyloidosis*Cerebral amyloid angiopathy, APP-related. *Hereditary cystatin C amyloid ... Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency. *Congenital Adrenal Hyperplasia due to Apparent ... Congenital sucrase-isomaltase deficiency with minimal starch tolerance. *Congenital sucrase-isomaltase deficiency with starch ...
Congenital, Hereditary, and Neonatal Diseases and Abnormalities [‎5]‎. Decision Making, Organizational [‎6]‎. ...
Congenital, Hereditary, and Neonatal Diseases and Abnormalities. *Neoplasms. *Pathological Conditions, Signs and Symptoms ... Male Urogenital Diseases. Patient Care. Accepts new patients? Yes. Patient Type: Adult; Child; Geriatric. Referrals: From ...
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Neoplasms; Pathological Conditions, ... Lung Diseases; Male Urogenital Diseases; Neoplasms; Pancreas; Respiratory Tract Diseases Dr. Cai completed his residency in ... Conjunctival Diseases; Corneal Diseases; Endocrine Gland Neoplasms; Eye Neoplasms; Eyelid Diseases; Head and Neck Neoplasms; ... Retinal Diseases; Retroperitoneal Neoplasms; Thoracic Neoplasms; Urogenital Neoplasms; Urologic Diseases; Uveal Diseases ...
Congenital Abnormalities; DNA; Fanconi Syndrome; Genetics; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; ... Other disease genes under study include MEN1 (multiple endocrine neoplasia type 1) and BRCA1 (the main gene responsible for ... One project in the laboratory arose from studies of the nevoid basal cell carcinoma syndrome (NBCCS), a human genetic disease ... Bale AE: Hedgehog signaling and human disease. Annu Rev Genomics Hum Genet. 2002; 2002 Apr 15. PMID: 12142354 ...
Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; DNA; Fanconi Syndrome; Genetics; ... Cell Biology; Genetics, Medical; Human Genome Project; Musculoskeletal Diseases; Skin and Connective Tissue Diseases ... Calcification, Physiologic; Osteoarthropathy, Primary Hypertrophic; Pathology; Pseudoxanthoma Elasticum; Rare Diseases; Sickle ...
Developmental Diseases. 8737. Congenital, Hereditary, and Neonatal Diseases and Abnormalities. 7519. genetic disease. 7008. ... Diseases Aging & Age-Related Disease Cancer Cardiovascular Disease Developmental Disease Diabetes Hematologic Disease Immune & ... Inflammatory Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease ... autosomal recessive disease. 1981. multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and ...
You are here: Research Topics , diseases , and neonatal diseases and abnormalities hereditary congenital , inborn genetic ... Crohn's disease), and inherited recurrent febrile diseases such as the autosomal recessive familial Mediterranean fever ( ... b>Familial Mediterranean fever (FMF) is the most frequent hereditary inflammatory disease characterized by self-limited ... inflammatory bowl disease, tuberculosis, leprosy, Hodgkin's disease, renal cell carcinoma, and Familial Mediterranean ...
Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]. *Genetic Diseases, Inborn [C16.320] ... Neonatal gene therapy of glycogen storage disease type Ia using a feline immunodeficiency virus-based vector. Mol Ther. 2010 ... "Glycogen Storage Disease Type I" is a descriptor in the National Library of Medicines controlled vocabulary thesaurus, MeSH ( ... An autosomal recessive disease in which gene expression of glucose-6-phosphatase is absent, resulting in hypoglycemia due to ...
Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]. *Genetic Diseases, Inborn [C16.320] ... "Pyruvate Carboxylase Deficiency Disease" is a descriptor in the National Library of Medicines controlled vocabulary thesaurus ... This graph shows the total number of publications written about "Pyruvate Carboxylase Deficiency Disease" by people in Harvard ... The clinical course may be similar to LEIGH DISEASE. (From Am J Hum Genet 1998 Jun;62(6):1312-9) ...
Categories: Congenital, Hereditary, and Neonatal Diseases and Abnormalities Image Types: Photo, Illustrations, Video, Color, ... Centers for Disease Control and Prevention. CDC twenty four seven. Saving Lives, Protecting People Centers for Disease Control ... The Centers for Disease Control and Prevention (CDC) cannot attest to the accuracy of a non-federal website. ...
Characteristics may include depigmentation of the hair and skin, congenital deafness, heterochromia iridis, medial eyebrow ... Klein-Waardenburg Syndrome refers to a disorder that also includes upper limb abnormalities. ... autosomal dominant disease with variable penetrance and several known clinical types. ... Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 668*Congenital Abnormalities: 15467*Multiple Abnormalities: ...
Congenital, Hereditary, and Neonatal Diseases and Abnormalities (Congenital Disorders) 12/2007. 1. Endometriosis (Adenomyosis) ... Take advantage of free CureHunter research engine access to explore the best drug and treatment options for any disease. Find ... Breast Diseases (Breast Disease) 03/2007. 1. Cardiovascular Diseases (Cardiovascular Disease) 06/2006. ...
Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]. MedDRA Classification. ... severe congenital malformation or syndrome requiring neonatal surgery or affecting long-term outcome - patient considered " ... E.1 Medical condition or disease under investigation. E.1.1. Medical condition(s) being investigated Perinatal Asphyxia, ... Rare Diseases and Orphan Designation. For these items you should use the filters and not add them to your search terms in the ...
Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]. MedDRA Classification. ... disease who have never received any specific treatment for this disease and who do not have severe symptoms of the disease.. ... 2. The patient must have a confirmed diagnosis of Fabry disease as documented by leukocyte a-Galactosidase A (alpha-GAL) ... As a result a fatty substance called globotriaosylceramide accumulates in cells and initiates the disease in several organs.. ...
Congenital abnormalities. *Congenital hypothyroidism. *Congenital, hereditary, and neonatal diseases and abnormalities panel ... Cardiovascular disease. Congenital, hereditary, and neonatal diseases and abnormalities. *Anemia - Hemolytic. *Anemia - ... Cardiovascular disease. *Congenital, hereditary, and neonatal diseases and abnormalities. *Cystic fibrosis. *Digestive system ...
... diseases, symptoms, treatments, and other medical and health issues. ... Congenital, Hereditary, and Neonatal Diseases and Abnormalities*Abnormalities*Nervous System Malformations*Neural Tube Defects* ... Laryngeal web congenital heart disease short stature *Laryngeal web, congenital heart disease and low stature Find out more. ... Other congenital musculoskeletal anomalies *Congenital anomaly, unspecified *DISEASES AND INJURIES *Disease Ontology V2.1 2005 ...
Epidemiology and Community Assessment, Health Promotion and Epidemiology, Congenital, Hereditary, and Neonatal Diseases and ... Abnormalities... view full profile. * John C. Carey, MD, MPH. Locations. *School of Medicine ...
Respiratory tract diseases; Congenital, hereditary, and neonatal diseases and abnormalities; Digestive system diseases; Immune ... Congenital, hereditary, and neonatal diseases and abnormalities; Nervous system diseases; Nutritional and metabolic diseases ... Respiratory tract diseases; Congenital, hereditary, and neonatal diseases and abnormalities; Digestive system diseases; Immune ... Congenital, hereditary, and neonatal diseases and abnormalities; Hemic and lymphatic diseases. QUALIOST®: QUAlity of Life ...
Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]. *Congenital Abnormalities [C16.131]. *Musculoskeletal ... "Musculoskeletal Abnormalities" is a descriptor in the National Library of Medicines controlled vocabulary thesaurus, MeSH ( ... This graph shows the total number of publications written about "Musculoskeletal Abnormalities" by people in this website by ... Below are the most recent publications written about "Musculoskeletal Abnormalities" by people in Profiles. ...
Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]. *Genetic Diseases, Inborn [C16.320] ... "Glycogen Storage Disease Type VIII" is a descriptor in the National Library of Medicines controlled vocabulary thesaurus, MeSH ... This graph shows the total number of publications written about "Glycogen Storage Disease Type VIII" by people in this website ... An x-linked recessive hepatic glycogen storage disease resulting from lack of expression of phosphorylase-b-kinase activity. ...
  • This unfortunate circumstance has led to newborn screening programs worldwide for 40 or more hereditary metabolic disorders beginning with the dramatic improvements for patients with phenylketonuria in the 1960's. (iospress.com)
  • 1:250,000 (many disorders such as Maple Syrup Urine Disease (branched chain ketoaciduria). (iospress.com)
  • or 2) disorders associated with known genetic mutations that have altered cellular physiology such as the chloride channel defect in cystic fibrosis or caused severe structural, cellular, or subcellular abnormalities. (iospress.com)
  • Interstitial lung disease (ILD) in infants and children comprises a large spectrum of rare respiratory disorders that are mostly chronic and associated with high morbidity and mortality. (biomedcentral.com)
  • Considering the importance of a differential diagnosis of thrombotic microangiopathic disorders, congenital thrombotic thrombocytopenic purpura may mimic the signs and symptoms of pre-eclampsia/eclampsia, hemolysis with elevated liver enzymes and low platelet count syndrome, and atypical hemolytic-uremic syndrome. (biomedcentral.com)
  • A temporary form of acquired Selective IgA Deficiency has been reported following treatment with penicillamine for Wilson's Disease, which is an inherited disorder caused by accumulation of copper in the body causing multiple symptoms, or phenytoin/hydantoin (brand name: Dilantin) for seizure disorders. (vaccinechoicecanada.com)
  • Her research focuses on medical genetics and stem cell modeling to unlock disease mechanisms and pathways leading to neurodegeneration in Parkinson's disease and related disorders, and to develop new therapeutic strategies to advance precision medicine. (stanford.edu)
  • Toxoplasmosis is a serious zoonotic disease that can lead to abortion and congenital disorders and has a widespread global distribution in humans and animals. (bvsalud.org)
  • Paulson H, Ammache Z. Ataxia and hereditary disorders. (medscape.com)
  • In the following list you will find some of the most common rare diseases related to Anemia and Thin skin that can help you solving undiagnosed cases. (mendelian.co)
  • The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. (nih.gov)
  • Inborn errors of metabolism are generally categorized as rare diseases. (iospress.com)
  • And a variety of abnormalities can occur as a result of a mutation from this gene, Peters' anomaly (Corneal Opacity) and aniridia (lack of Iris) are just some, as well as an abnormal cortical plate formations. (edu.au)
  • When hematological abnormalities such as anemia, leukocytosis, thrombocytopenia and abnormal blood cell forms predominate, myelodysplastic syndromes may be suspected. (biomedcentral.com)
  • Higher Prevalence of Myocilin Mutations in Advanced Glaucoma in Comparison with Less Advanced Disease in an Australasian Disease Registry. (lei.org.au)
  • The congenital form is caused by inherited mutations in the ADAMTS13 gene. (biomedcentral.com)
  • MVA is caused by homozygosity or compound heterozygosity for disease-causing mutations in the MVK gene, which has been localized to chromosome 12q24 [ 2 ]. (biomedcentral.com)
  • ApoAI can present either as a nonhereditary form with wild-type protein deposits in atherosclerotic plaques or as a hereditary form due to germline mutations in the apoA1 gene. (medscape.com)
  • Cystic Fibrosis (CF) is a disease that mainly affects the lungs and arises from mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene that encodes for the CFTR membrane protein located on certain secretory cells. (childrensnational.org)
  • Lastly, we will attempt to discuss some of the diseases that may be associated with the mutations or disruptions of different connexin genes and recent research with regard to gap junctions. (edu.au)
  • Congenital heart disease, defined as a gross structural abnormality of the heart, is the most common type of human birth defect, occurring in ∼9 per 1000 live births and at a significantly greater incidence in miscarriage and still births. (marseille-medical-genetics.org)
  • The objective of this review was to investigate the incidence of toxoplasmosis in Iranian neonates in order to obtain a comprehensive assessment of the overall situation of the disease for use in developing future interventions. (bvsalud.org)
  • Based on the retrieved studies, the overall weighted incidence rates of toxoplasmosis in the Iranian neonatal population and neonates with suspected congenital toxoplasmosis were estimated to be 0.64% (95% confidence interval [CI], 0.31 to 1.09) and 4.10% (95% CI, 2.68 to 5.77), respectively, using a fixed-effects model. (bvsalud.org)
  • Clinical presentation is variable, ranging from occasional symptomatic nephrolithiasis to nephrocalcinosis and end-stage renal disease with systemic involvement. (mendelian.co)
  • Gastroesophageal variceal bleeding, splenomegaly, portosystemic collaterals, and ultimate hematologic abnormalities are among the prominent clinical features. (cureus.com)
  • Therefore, caution should be exercised to prevent overreaction to miscellaneous, mild abnormalities without clinical correlate. (leventozturk.com)
  • We think with clinical and heterogeneous Cleanroom Design 2000 programs, fully treat on to achieving and adding disease problems, and we are up with sputum resources using MyFaces Trinidad. (shesonamission.org)
  • Shape oscillations of single blood drops: applications to human blood and sickle cell disease. (childrenshospital.org)
  • Ilboudo Y, Bartolucci P, Garrett ME, Ashley-Koch A, Telen M, Brugnara C, Galactéros F, Lettre G. A common functional PIEZO1 deletion allele associates with red blood cell density in sickle cell disease patients. (childrenshospital.org)
  • Many affected infants have skeletal abnormalities, which may include a large space between the bones of the skull and bone spots known as chondrodysplasia punctata that can be seen with an X-ray . (nih.gov)
  • Hearing loss is one of the most common major abnormalities present among infants. (cdc.gov)
  • 16-18 ] Infants born to women who develop varicella within the period of 5 days before delivery to 2 days after delivery are at high risk of severe neonatal varicella. (cdc.gov)
  • He defined these inborn errors as genetically determined diseases caused by blocks in the metabolic pathways due to deficient activity of an enzyme [ 3 ]. (iospress.com)
  • This table lists symptoms that people with this disease may have. (nih.gov)
  • For most diseases, symptoms will vary from person to person. (nih.gov)
  • People with the same disease may not have all the symptoms listed. (nih.gov)
  • Prevalence and risk factors of symptoms of pelvic inflammatory disease in a rural community of Jamshoro, Sindh, Pakistan. (saladgaffe.cf)
  • Aim: To shortly summarize the most characteristic symptoms of hereditary spherocytosis from the prism of our centers in order to help primary care-physicians or pediatricians in this affection recognition. (bvsalud.org)
  • Glycogen storage disease type I, also known as von Gierke disease, typically manifests during the first year of life with severe hypoglycemia and hepatomegaly caused by the accumulation of glycogen. (mendelian.co)
  • CEP290-Leber congenital amaurosis (LCA) patients are characterized by severe visual dysfunction, early loss of rod photoreceptors and maintained cone photoreceptors within the fovea. (ufl.edu)
  • Although this disease is easily treatable when recognized, if left untreated it may be fatal or lead to severe mental disability as a result of recurrent hypoglycemia secondary to glucocorticoid insufficiency. (medscape.com)
  • Neonatal jaundice advances over time to biliary cirrhosis with severe liver fibrosis. (wikipedia.org)
  • ABSTRACT Introduction: Purpura fulminans (PF) is a rapid progressive thrombotic disease in which hemorrhagic infarction of the skin and disseminated intravascular coagulation (DIC) occurs. (bvsalud.org)
  • Thrombotic thrombocytopenic purpura (TTP) is a life-threatening disease related to the formation of microvascular thrombosis and subsequent organ failure. (bvsalud.org)
  • The skeletal muscle abnormalities associated with SJS may be recognized at birth or infancy or may become apparent within the second year of life. (rarediseases.org)
  • Recurrent diarrhea raises suspicion of malabsorption and occult blood loss occurring in celiac sprue and inflammatory bowel disease. (aafp.org)
  • Epilepsy is a chronic disease characterized by recurrent unprovoked seizures. (bvsalud.org)
  • CEP290-LCA patients are excellent candidates for AAV-mediated gene therapy because the genetic causation of their disease is understood and their retinas possess retained cone photoreceptors that can be targeted during treatment. (ufl.edu)
  • Genes included in a Genomics England gene panel for a rare disease category (green list) should fit the criteria A-E outlined below. (genomicsengland.co.uk)
  • To determine whether fibrocystin/polyductin/tigmin (FPC), the protein product encoded by the PKHD1 gene that is responsible for autosomal recessive polycystic kidney disease among human subjects, is also a component of primary cilia in the kidney, antipeptide antibodies to the carboxyl-terminal intracellular domain and amino-terminal extracellular domain of FPC were generated and were characterized with immunoblotting and immuno-light and -electron microscopy. (umassmed.edu)
  • The primary distinction between retinal and optic nerve disease is made on ophthalmoscopy with direct observation of the pathology. (clinicalgate.com)
  • Hepatitis C Guidance 2019 Update: American Association for the Study of Liver Diseases-Infectious Diseases Society of America Recommendations for Testing, Managing, and Treating Hepatitis C Virus Infection. (harvard.edu)
  • The cause of an incidental and persistent finding of fatty liver and/or cryptogenic isolated mild hypertransaminasemia (HTS) in a child may therefore tend to be more and more undervalued and wrongly included within the spectrum of "non alcoholic fatty liver disease" (NAFLD)[ 1 ]. (biomedcentral.com)
  • Due to the existence of the association fatty liver and sweet foods dislike/aversion, the molecular analysis for the hereditary fructose intolerance (HFI), was also performed. (biomedcentral.com)
  • Affected individuals may also have small, fixed facial features and various abnormalities of the eyes, some of which may cause impaired vision. (rarediseases.org)
  • Andolfo I, Russo R, Rosato BE, Manna F, Gambale A, Brugnara C, Iolascon A. Genotype-phenotype correlation and risk stratification in a cohort of 123 hereditary stomatocytosis patients. (childrenshospital.org)
  • Saving Lives, Protecting People Centers for Disease Control and Prevention. (cdc.gov)
  • Ulcerative colitis, usually referred to only as colitis, is a disease that results in ulcers in the punctuation and rectum 120 mg silvitra visa erectile dysfunction at 20. (kavalerist.ru)
  • It is proposed that the pathogenesis of autosomal recessive polycystic kidney disease is linked to the dysfunction of primary cilia. (umassmed.edu)
  • Detailed information on how smoking adversely affects the outcome of Graves' disease may convince patients they have to stop smoking right away. (ijem.in)
  • From Sir Garrod's observations of patients with alkaptonuria, albinism, cystinuria, and pentosuria, he developed the concept that certain diseases of lifelong duration arise because an enzyme governing a single metabolic step is reduced in activity or missing altogether [ 4 ]. (iospress.com)
  • Refractive errors should be noted as patients with congenital stationary night blindness (CSNB) are myopic whereas patients with Leber's congenital amaurosis (LCA) are hyperopic. (clinicalgate.com)
  • Beyond zodiac Characterization of pain, sensory profile and conditioned pain modulation in patients with motor neuron disease: A controlled study. (migroup.pro)
  • It is used to treat patients with reflux disease, inflammation of the throat or stomach lining, or bleeding in the stomach. (saladgaffe.cf)
  • It arises in paediatric patients, generally within the first year of life, in symptomatic or idiopathic form depending on the presence of hereditary features or not. (bvsalud.org)
  • DISCUSSION: West patients present with multiple oral abnormalities, including altered eruption timing, teeth agenesis, teeth shape and position abnormalities, plaque and calculus accumulation, malocclusions and bad oral habits (mouth breathing, nails biting). (bvsalud.org)
  • Since the first description of the disease in 1996, it has been described in less than 30 patients from 13 Italian (mainly Sardinian) families. (cdc.gov)
  • Record of patients diagnosed with neonatal HIE from 2007 until 2016 who completed 72 h of cooling therapy and had MRI brain within 2 weeks of life were included in this study. (ijri.org)
  • If hospital in-patients have visitors, ask if the disease course, there is an option. (meownowfl.org)
  • Erythrocytes from hereditary xerocytosis patients heterozygous for KCNN4 V282M exhibit increased spontaneous Gardos channel-like activity inhibited by senicapoc. (childrenshospital.org)
  • A Multicenter Phase 2 Open-Label, Single-Arm, Prospective, Interventional Study of Plasma-Derived Factor VIIIIVWF Alphanate® in Immune Tolerance Induction Therapy in Subjects with Congenital Hemophilia A. (clinicaltrialsregister.eu)
  • This is a multicenter, multinational, prospective, single-arm, nonrandomized, open-label study of approximately 25 male subjects with congenital hemophilia A with FVIII inhibitors who will receive their first (primary) ITI treatment with Alphanate. (clinicaltrialsregister.eu)