Acrocephalosyndactylia: Congenital craniostenosis with syndactyly.Encyclopedias as Topic: Works containing information articles on subjects in every field of knowledge, usually arranged in alphabetical order, or a similar work limited to a special field or subject. (From The ALA Glossary of Library and Information Science, 1983)Germany, EastMedlinePlus: NATIONAL LIBRARY OF MEDICINE service for health professionals and consumers. It links extensive information from the National Institutes of Health and other reviewed sources of information on specific diseases and conditions.Cenchrus: A plant genus of the family POACEAE. The common name of buffelgrass is also used for PENNISETUM.Syndrome: A characteristic symptom complex.Consumer Health Information: Information intended for potential users of medical and healthcare services. There is an emphasis on self-care and preventive approaches as well as information for community-wide dissemination and use.Receptors, Fibroblast Growth Factor: Specific molecular sites or structures on cell membranes that react with FIBROBLAST GROWTH FACTORS (both the basic and acidic forms), their analogs, or their antagonists to elicit or to inhibit the specific response of the cell to these factors. These receptors frequently possess tyrosine kinase activity.Fibroblast Growth Factor 2: A single-chain polypeptide growth factor that plays a significant role in the process of WOUND HEALING and is a potent inducer of PHYSIOLOGIC ANGIOGENESIS. Several different forms of the human protein exist ranging from 18-24 kDa in size due to the use of alternative start sites within the fgf-2 gene. It has a 55 percent amino acid residue identity to FIBROBLAST GROWTH FACTOR 1 and has potent heparin-binding activity. The growth factor is an extremely potent inducer of DNA synthesis in a variety of cell types from mesoderm and neuroectoderm lineages. It was originally named basic fibroblast growth factor based upon its chemical properties and to distinguish it from acidic fibroblast growth factor (FIBROBLAST GROWTH FACTOR 1).Fibroblast Growth Factors: A family of small polypeptide growth factors that share several common features including a strong affinity for HEPARIN, and a central barrel-shaped core region of 140 amino acids that is highly homologous between family members. Although originally studied as proteins that stimulate the growth of fibroblasts this distinction is no longer a requirement for membership in the fibroblast growth factor family.Receptor, Fibroblast Growth Factor, Type 2: A fibroblast growth factor receptor that is found in two isoforms. One receptor isoform is found in the MESENCHYME and is activated by FIBROBLAST GROWTH FACTOR 2. A second isoform of fibroblast growth factor receptor 2 is found mainly in EPITHELIAL CELLS and is activated by FIBROBLAST GROWTH FACTOR 7 and FIBROBLAST GROWTH FACTOR 10. Mutation of the gene for fibroblast growth factor receptor 2 can result in craniosynostotic syndromes (e.g., APERT SYNDROME; and CROUZON SYNDROME).Receptor, Fibroblast Growth Factor, Type 1: A fibroblast growth factor receptor with specificity for FIBROBLAST GROWTH FACTORS; HEPARAN SULFATE PROTEOGLYCAN; and NEURONAL CELL ADHESION MOLECULES. Several variants of the receptor exist due to multiple ALTERNATIVE SPLICING of its mRNA. Fibroblast growth factor receptor 1 is a tyrosine kinase that transmits signals through the MAP KINASE SIGNALING SYSTEM.Receptor, Fibroblast Growth Factor, Type 3: A fibroblast growth factor receptor that regulates CHONDROCYTE growth and CELL DIFFERENTIATION. Mutations in the gene for fibroblast growth factor receptor 3 have been associated with ACHONDROPLASIA; THANATOPHORIC DYSPLASIA and NEOPLASTIC CELL TRANSFORMATION.Fibroblast Growth Factor 1: A 17-kDa single-chain polypeptide growth factor that plays a significant role in the process of WOUND HEALING and is a potent inducer of PHYSIOLOGIC ANGIOGENESIS. It binds to HEPARIN, which potentiates its biological activity and protects it from proteolysis. The growth factor is an extremely potent inducer of DNA synthesis in a variety of cell types from mesoderm and neuroectoderm lineages, and also has chemotactic and mitogenic activities. It was originally named acidic fibroblast growth factor based upon its chemical properties and to distinguish it from basic fibroblast growth factor (FIBROBLAST GROWTH FACTOR 2).Craniosynostoses: Premature closure of one or more CRANIAL SUTURES. It often results in plagiocephaly. Craniosynostoses that involve multiple sutures are sometimes associated with congenital syndromes such as ACROCEPHALOSYNDACTYLIA; and CRANIOFACIAL DYSOSTOSIS.Synostosis: A union between adjacent bones or parts of a single bone formed by osseous material, such as ossified connecting cartilage or fibrous tissue. (Dorland, 27th ed)Plagiocephaly, Nonsynostotic: A deformity of the SKULL that is not due to bone fusion (SYNOSTOSIS), such as craniosynostoses, and is characterized by an asymmetric skull and face. It is observed with an increased frequency in INFANTS after the adoption of supine sleeping recommendations to prevent SUDDEN INFANT DEATH SYNDROME.Plagiocephaly: The condition characterized by uneven or irregular shape of the head often in parallelogram shape with a flat spot on the back or one side of the head. It can either result from the premature CRANIAL SUTURE closure (CRANIOSYNOSTOSIS) or from external forces (NONSYNOSTOTIC PLAGIOCEPHALY).Cranial Sutures: A type of fibrous joint between bones of the head.Skull: The SKELETON of the HEAD including the FACIAL BONES and the bones enclosing the BRAIN.Directories as Topic: Lists of persons or organizations, systematically arranged, usually in alphabetic or classed order, giving address, affiliations, etc., for individuals, and giving address, officers, functions, and similar data for organizations. (ALA Glossary of Library and Information Science, 1983)Community Networks: Organizations and individuals cooperating together toward a common goal at the local or grassroots level.Sandfly fever Naples virus: A species in the genus PHLEBOVIRUS causing PHLEBOTOMUS FEVER, an influenza-like illness. Related serotypes include Toscana virus and Tehran virus.Phlebotomus Fever: Influenza-like febrile viral disease caused by several members of the BUNYAVIRIDAE family and transmitted mostly by the bloodsucking sandfly Phlebotomus papatasii.Phlebovirus: A genus of the family BUNYAVIRIDAE comprising many viruses, most of which are transmitted by Phlebotomus flies and cause PHLEBOTOMUS FEVER. The type species is RIFT VALLEY FEVER VIRUS.ItalyFloridaBranchio-Oto-Renal Syndrome: An autosomal dominant disorder manifested by various combinations of preauricular pits, branchial fistulae or cysts, lacrimal duct stenosis, hearing loss, structural defects of the outer, middle, or inner ear, and renal dysplasia. Associated defects include asthenic habitus, long narrow facies, constricted palate, deep overbite, and myopia. Hearing loss may be due to Mondini type cochlear defect and stapes fixation. (Jablonski's Dictionary of Syndromes & Eponymic Diseases, 2d ed)Protein Tyrosine Phosphatases: An enzyme group that specifically dephosphorylates phosphotyrosyl residues in selected proteins. Together with PROTEIN-TYROSINE KINASE, it regulates tyrosine phosphorylation and dephosphorylation in cellular signal transduction and may play a role in cell growth control and carcinogenesis.Ear, External: The outer part of the hearing system of the body. It includes the shell-like EAR AURICLE which collects sound, and the EXTERNAL EAR CANAL, the TYMPANIC MEMBRANE, and the EXTERNAL EAR CARTILAGES.Ear: The hearing and equilibrium system of the body. It consists of three parts: the EXTERNAL EAR, the MIDDLE EAR, and the INNER EAR. Sound waves are transmitted through this organ where vibration is transduced to nerve signals that pass through the ACOUSTIC NERVE to the CENTRAL NERVOUS SYSTEM. The inner ear also contains the vestibular organ that maintains equilibrium by transducing signals to the VESTIBULAR NERVE.Intracellular Signaling Peptides and Proteins: Proteins and peptides that are involved in SIGNAL TRANSDUCTION within the cell. Included here are peptides and proteins that regulate the activity of TRANSCRIPTION FACTORS and cellular processes in response to signals from CELL SURFACE RECEPTORS. Intracellular signaling peptide and proteins may be part of an enzymatic signaling cascade or act through binding to and modifying the action of other signaling factors.Ear Auricle: The shell-like structure projects like a little wing (pinna) from the side of the head. Ear auricles collect sound from the environment.Dwarfism: A genetic or pathological condition that is characterized by short stature and undersize. Abnormal skeletal growth usually results in an adult who is significantly below the average height.Microcephaly: A congenital abnormality in which the CEREBRUM is underdeveloped, the fontanels close prematurely, and, as a result, the head is small. (Desk Reference for Neuroscience, 2nd ed.)Osteopoikilosis: An asymptomatic, autosomal dominant trait in which pea-sized sclerotic spots, prominent in the metaphyseal area, are accompanied by unique cutaneous lesions. These are yellowish papules or plaques with increased elastin content. (From Cecil Textbook of Medicine, 19th ed, pp1434-35)Micrognathism: Abnormally small jaw.Osteochondrodysplasias: Abnormal development of cartilage and bone.Neuronal Migration Disorders: Disorders resulting from defects in migration of neuronal cells during neurogenesis. Developing nerve cells either fail to migrate or they migrate to incorrect positions resulting in formation of heterotopias, lissencephaly, or other malformations and dysfunctions of the nervous system.Sotos Syndrome: Congenital or postnatal overgrowth syndrome most often in height and occipitofrontal circumference with variable delayed motor and cognitive development. Other associated features include advanced bone age, seizures, NEONATAL JAUNDICE; HYPOTONIA; and SCOLIOSIS. It is also associated with increased risk of developing neoplasms in adulthood. Mutations in the NSD1 protein and its HAPLOINSUFFICIENCY are associated with the syndrome.Impulse Control Disorders: Disorders whose essential features are the failure to resist an impulse, drive, or temptation to perform an act that is harmful to the individual or to others. Individuals experience an increased sense of tension prior to the act and pleasure, gratification or release of tension at the time of committing the act.Obsessive-Compulsive Disorder: An anxiety disorder characterized by recurrent, persistent obsessions or compulsions. Obsessions are the intrusive ideas, thoughts, or images that are experienced as senseless or repugnant. Compulsions are repetitive and seemingly purposeful behavior which the individual generally recognizes as senseless and from which the individual does not derive pleasure although it may provide a release from tension.Attention Deficit Disorder with Hyperactivity: A behavior disorder originating in childhood in which the essential features are signs of developmentally inappropriate inattention, impulsivity, and hyperactivity. Although most individuals have symptoms of both inattention and hyperactivity-impulsivity, one or the other pattern may be predominant. The disorder is more frequent in males than females. Onset is in childhood. Symptoms often attenuate during late adolescence although a minority experience the full complement of symptoms into mid-adulthood. (From DSM-V)Stuttering: A disturbance in the normal fluency and time patterning of speech that is inappropriate for the individual's age. This disturbance is characterized by frequent repetitions or prolongations of sounds or syllables. Various other types of speech dysfluencies may also be involved including interjections, broken words, audible or silent blocking, circumlocutions, words produced with an excess of physical tension, and monosyllabic whole word repetitions. Stuttering may occur as a developmental condition in childhood or as an acquired disorder which may be associated with BRAIN INFARCTIONS and other BRAIN DISEASES. (From DSM-IV, 1994)Rare Diseases: A large group of diseases which are characterized by a low prevalence in the population. They frequently are associated with problems in diagnosis and treatment.National Library of Medicine (U.S.): An agency of the NATIONAL INSTITUTES OF HEALTH concerned with overall planning, promoting, and administering programs pertaining to advancement of medical and related sciences. Major activities of this institute include the collection, dissemination, and exchange of information important to the progress of medicine and health, research in medical informatics and support for medical library development.Genetic Diseases, Inborn: Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero.Orphan Drug Production: Production of drugs or biologicals which are unlikely to be manufactured by private industry unless special incentives are provided by others.Genetic Counseling: An educational process that provides information and advice to individuals or families about a genetic condition that may affect them. The purpose is to help individuals make informed decisions about marriage, reproduction, and other health management issues based on information about the genetic disease, the available diagnostic tests, and management programs. Psychosocial support is usually offered.Genetic Testing: Detection of a MUTATION; GENOTYPE; KARYOTYPE; or specific ALLELES associated with genetic traits, heritable diseases, or predisposition to a disease, or that may lead to the disease in descendants. It includes prenatal genetic testing.MEDLARS: A computerized biomedical bibliographic storage and retrieval system operated by the NATIONAL LIBRARY OF MEDICINE. MEDLARS stands for Medical Literature Analysis and Retrieval System, which was first introduced in 1964 and evolved into an online system in 1971 called MEDLINE (MEDLARS Online). As other online databases were developed, MEDLARS became the name of the entire NLM information system while MEDLINE became the name of the premier database. MEDLARS was used to produce the former printed Cumulated Index Medicus, and the printed monthly Index Medicus, until that publication ceased in December 2004.

Mutations within or upstream of the basic helix-loop-helix domain of the TWIST gene are specific to Saethre-Chotzen syndrome. (1/135)

Saethre-Chotzen syndrome (ACS III) is an autosomal dominant craniosynostosis syndrome recently ascribed to mutations in the TWIST gene, a basic helix-loop-helix (b-HLH) transcription factor regulating head mesenchyme cell development during cranial neural tube formation in mouse. Studying a series of 22 unrelated ACS III patients, we have found TWIST mutations in 16/22 cases. Interestingly, these mutations consistently involved the b-HLH domain of the protein. Indeed, mutant genotypes included frameshift deletions/insertions, nonsense and missense mutations, either truncating or disrupting the b-HLH motif of the protein. This observation gives additional support to the view that most ACS III cases result from loss-of-function mutations at the TWIST locus. The P250R recurrent FGFR 3 mutation was found in 2/22 cases presenting mild clinical manifestations of the disease but 4/22 cases failed to harbour TWIST or FGFR 3 mutations. Clinical re-examination of patients carrying TWIST mutations failed to reveal correlations between the mutant genotype and severity of the phenotype. Finally, since no TWIST mutations were detected in 40 cases of isolated coronal craniosynostosis, the present study suggests that TWIST mutations are specific to Saethre-Chotzen syndrome.  (+info)

Decreased proliferation and altered differentiation in osteoblasts from genetically and clinically distinct craniosynostotic disorders. (2/135)

Craniosynostoses are a heterogeneous group of disorders characterized by premature fusion of cranial sutures. Mutations in fibroblast growth factor receptors (FGFRs) have been associated with a number of such conditions. Nevertheless, the cellular mechanism(s) involved remain unknown. We analyzed cell proliferation and differentiation in osteoblasts obtained from patients with three genetically and clinically distinct craniosynostoses: Pfeiffer syndrome carrying the FGFR2 C342R substitution, Apert syndrome with FGFR2 P253R change, and a nonsyndromic craniosynostosis without FGFR canonic mutations, as compared with control osteoblasts. Osteoblasts from craniosynostotic patients exhibited a lower proliferation rate than control osteoblasts. P253R and nonsyndromic craniosynostosis osteoblasts showed a marked differentiated phenotype, characterized by high alkaline phosphatase activity, increased mineralization and expression of noncollagenous matrix proteins, associated with high expression and activation of protein kinase Calpha and protein kinase Cepsilon isoenzymes. By contrast, the low proliferation rate of C342R osteoblasts was not associated with a differentiated phenotype. Although they showed higher alkaline phosphatase activity than control, C342R osteoblasts failed to mineralize and expressed low levels of osteopontin and osteonectin and high protein kinase Czeta levels. Stimulation of proliferation and inhibition of differentiation were observed in all cultures on FGF2 treatment. Our results suggest that an anticipated proliferative/differentiative switch, associated with alterations of the FGFR transduction pathways, could be the causative common feature in craniosynostosis and that mutations in distinct FGFR2 domains are associated with an in vitro heterogeneous differentiative phenotype.  (+info)

Fetal craniofacial structure and intracranial morphology in a case of Apert syndrome. (3/135)

Apert syndrome is characterized by craniosynostosis, midfacial hypoplasia and bilateral syndactyly. We document in detail the intrauterine natural history of Apert syndrome by serial sonographic examination. Ultrasound examination of a 19-week fetus revealed an abnormal appearance of the skull. The subsequent examination including transvaginal brain scanning demonstrated a deformed occipital part of the cerebrum and lateral ventricles, frontal bossing, a low nasal bridge and an abnormal appearance of the fetal hands and feet. The distortion of the fetal profile became progressively worse with advancing gestation. Towards the end of pregnancy, anterior prominence of the cerebrum, ventricles and corpus callosum was demonstrated and mild non-progressive ventriculomegaly was seen. The female 3152-g newborn with the typical facial appearance of Apert syndrome, bilateral syndactyly of the fingers and toes and isolated cleft palate was delivered at 37 weeks. Postnatal three-dimensional computed tomography scan demonstrated the fusion of the coronal suture and a wide mid-line calvarial defect, and cranial magnetic resonance imaging confirmed the prenatal sonographic findings. Although the karyotype was normal, genomic DNA analysis of the fibroblast growth factor receptor 2 revealed Ser252Trp, which is specified in the mutational basis of Apert syndrome. The time course of the prenatal findings in this case may help increase understanding of the intrauterine natural history of Apert syndrome.  (+info)

Second-trimester molecular prenatal diagnosis of sporadic Apert syndrome following suspicious ultrasound findings. (4/135)

Apert syndrome, an autosomal dominant disorder characterized by craniosynostosis, mid-facial malformations, symmetric bony syndactyly of hands and feet, and varying degrees of mental retardation, is most frequently caused by a de novo mutation. Two missense mutations in the fibroblast growth factor receptor 2 (FGFR2) gene have been found to account for the disorder in approximately 98% of affected patients. Seven cases of prenatal ultrasound diagnosis have been reported. Although one earlier diagnosis has been made in a familial case, sporadic cases have not been definitively diagnosed until the third trimester when craniosynostosis is usually detected. We report a second-trimester molecular diagnosis of a sporadic case, based on the ultrasound observation of fetal 'mitten hands' and craniosynostosis. We discuss the approach to such ultrasound features, given the current availability of molecular diagnosis for Apert syndrome.  (+info)

Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome. (5/135)

Crouzon syndrome and Pfeiffer syndrome are both autosomal dominant craniosynostotic disorders that can be caused by mutations in the fibroblast growth factor receptor 2 (FGFR2) gene. To determine the parental origin of these FGFR2 mutations, the amplification refractory mutation system (ARMS) was used. ARMS PCR primers were developed to recognize polymorphisms that could distinguish maternal and paternal alleles. A total of 4,374 bases between introns IIIa and 11 of the FGFR2 gene were sequenced and were assayed by heteroduplex analysis, to identify polymorphisms. Two polymorphisms (1333TA/TATA and 2710 C/T) were found and were used with two previously described polymorphisms, to screen a total of 41 families. Twenty-two of these families were shown to be informative (11 for Crouzon syndrome and 11 for Pfeiffer syndrome). Eleven different mutations in the 22 families were detected by either restriction digest or allele-specific oligonucleotide hybridization of ARMS PCR products. We molecularly proved the origin of these different mutations to be paternal for all informative cases analyzed (P=2. 4x10-7; 95% confidence limits 87%-100%). Advanced paternal age was noted for the fathers of patients with Crouzon syndrome or Pfeiffer syndrome, compared with the fathers of control individuals (34. 50+/-7.65 years vs. 30.45+/-1.28 years, P<.01). Our data on advanced paternal age corroborates and extends previous clinical evidence based on statistical analyses as well as additional reports of advanced paternal age associated with paternal origin of three sporadic mutations causing Apert syndrome (FGFR2) and achondroplasia (FGFR3). Our results suggest that older men either have accumulated or are more susceptible to a variety of germline mutations.  (+info)

Integration of FGF and TWIST in calvarial bone and suture development. (6/135)

Mutations in the FGFR1-FGFR3 and TWIST genes are known to cause craniosynostosis, the former by constitutive activation and the latter by haploinsufficiency. Although clinically achieving the same end result, the premature fusion of the calvarial bones, it is not known whether these genes lie in the same or independent pathways during calvarial bone development and later in suture closure. We have previously shown that Fgfr2c is expressed at the osteogenic fronts of the developing calvarial bones and that, when FGF is applied via beads to the osteogenic fronts, suture closure is accelerated (Kim, H.-J., Rice, D. P. C., Kettunen, P. J. and Thesleff, I. (1998) Development 125, 1241-1251). In order to investigate further the role of FGF signalling during mouse calvarial bone and suture development, we have performed detailed expression analysis of the splicing variants of Fgfr1-Fgfr3 and Fgfr4, as well as their potential ligand Fgf2. The IIIc splice variants of Fgfr1-Fgfr3 as well as the IIIb variant of Fgfr2 being expressed by differentiating osteoblasts at the osteogenic fronts (E15). In comparison to Fgf9, Fgf2 showed a more restricted expression pattern being primarily expressed in the sutural mesenchyme between the osteogenic fronts. We also carried out a detailed expression analysis of the helix-loop-helix factors (HLH) Twist and Id1 during calvaria and suture development (E10-P6). Twist and Id1 were expressed by early preosteoblasts, in patterns that overlapped those of the FGF ligands, but as these cells differentiated their expression dramatically decreased. Signalling pathways were further studied in vitro, in E15 mouse calvarial explants. Beads soaked in FGF2 induced Twist and inhibited Bsp, a marker of functioning osteoblasts. Meanwhile, BMP2 upregulated Id1. Id1 is a dominant negative HLH thought to inhibit basic HLH such as Twist. In Drosophila, the FGF receptor FR1 is known to be downstream of Twist. We demonstrated that in Twist(+/)(-) mice, FGFR2 protein expression was altered. We propose a model of osteoblast differentiation integrating Twist and FGF in the same pathway, in which FGF acts both at early and late stages. Disruption of this pathway may lead to craniosynostosis.  (+info)

Signaling by fibroblast growth factors (FGF) and fibroblast growth factor receptor 2 (FGFR2)-activating mutations blocks mineralization and induces apoptosis in osteoblasts. (7/135)

Fibroblast growth factors (FGF) play a critical role in bone growth and development affecting both chondrogenesis and osteogenesis. During the process of intramembranous ossification, which leads to the formation of the flat bones of the skull, unregulated FGF signaling can produce premature suture closure or craniosynostosis and other craniofacial deformities. Indeed, many human craniosynostosis disorders have been linked to activating mutations in FGF receptors (FGFR) 1 and 2, but the precise effects of FGF on the proliferation, maturation and differentiation of the target osteoblastic cells are still unclear. In this report, we studied the effects of FGF treatment on primary murine calvarial osteoblast, and on OB1, a newly established osteoblastic cell line. We show that FGF signaling has a dual effect on osteoblast proliferation and differentiation. FGFs activate the endogenous FGFRs leading to the formation of a Grb2/FRS2/Shp2 complex and activation of MAP kinase. However, immature osteoblasts respond to FGF treatment with increased proliferation, whereas in differentiating cells FGF does not induce DNA synthesis but causes apoptosis. When either primary or OB1 osteoblasts are induced to differentiate, FGF signaling inhibits expression of alkaline phosphatase, and blocks mineralization. To study the effect of craniosynostosis-linked mutations in osteoblasts, we introduced FGFR2 carrying either the C342Y (Crouzon syndrome) or the S252W (Apert syndrome) mutation in OB1 cells. Both mutations inhibited differentiation, while dramatically inducing apoptosis. Furthermore, we could also show that overexpression of FGF2 in transgenic mice leads to increased apoptosis in their calvaria. These data provide the first biochemical analysis of FGF signaling in osteoblasts, and show that FGF can act as a cell death inducer with distinct effects in proliferating and differentiating osteoblasts.  (+info)

A Pro250Arg substitution in mouse Fgfr1 causes increased expression of Cbfa1 and premature fusion of calvarial sutures. (8/135)

Pfeiffer syndrome is a classic form of craniosynostosis that is caused by a proline-->arginine substitution at amino acid 252 (Pro252Arg) in fibroblast growth factor receptor 1 (FGFR1). Here we show that mice carrying a Pro250Arg mutation in Fgfr1, which is orthologous to the Pfeiffer syndrome mutation in humans, exhibit anterio-posteriorly shortened, laterally widened and vertically heightened neurocraniums. Analysis of the posterior and anterior frontal, sagittal and coronal sutures of early post-natal mutant mice revealed premature fusion. The sutures of mutant mice had accelerated osteoblast proliferation and increased expression of genes related to osteoblast differentiation, suggesting that bone formation at the sutures is locally increased in Pfeiffer syndrome. Of note, dramatically increased expression of core-binding transcription factor alpha subunit type 1 (Cbfa1) accompanied premature fusion, suggesting that Cbfa1 may be a downstream target of Fgf/Fgfr1 signals. This was confirmed in vitro, where we demonstrate that transfection with wild-type or mutant Fgfr1 induces Cbfa1 expression. The induced expression was also observed using Fgf ligands (Fgf2 and Fgf8). These studies provide direct genetic evidence that the Pro252Arg mutation in FGFR1 causes human Pfeiffer syndrome and uncovers a molecular mechanism in which Fgf/Fgfr1 signals regulate intramembraneous bone formation by modulating Cbfa1 expression.  (+info)

Carpenter syndrome, also called acrocephalopolysyndactyly type II, is an extremely rare autosomal recessive congenital disorder characterized by craniofacial malformations, obesity, and syndactyly. It was first characterized in 1909. Carpenter syndrome presents several features: Tower-shaped skull (craniosynostosis) Additional or fused digits (fingers and toes) Obesity Reduced height Intellectual disability is also common with the disorder, although some patients may have average intellectual capacity. Carpenter Syndrome belongs to a group of rare genetic disorders known as acrocephalopolysyndactyly, abbreviated ACPS (RN, 2007). There were originally five types of ACPS, but this number has been decreased because they have been found to be closely related to one another or to other disorders (Paul A. Johnson, 2002). The most common physical manifestation of Carpenter Syndrome is early fusing of the fibrous cranial sutures which results in an abnormally pointed head. The fusion of the skull bones ...
Background: The present paper describes the general and oral manifestations in a 32-year-old man previously diagnosed with Apert syndrome. Clinical examination revealed features of acrocephalosyndactyly. The patient was found to have a flattened occiput with frontal prominence, abnormal contour of head (brachycephaly), shallow and downward slanting orbits with bilateral proptosis, hypertelorism, retruded midface, and prognathic mandible.Dental anormalies were present in a patient. Intraoral evaluation revealed normal mouth opening with anterior severe skeletal open bite and Byzantine-arch palate, maxillary alveolar ridges with crowding of maxillary and mandibular teeth, poor hygiene with heavy dental calculus and periodontal pseudopocket, dental caries, severe anterior open bite and crossbite, macroglosia and smooth tongue. The high prevalence of dental anomalies and ectopic eruption may suggest a possible etiologic relationship with the Apert syndrome. Keywords Acrocephalosyndactylia, ...
Saethre-Chotzen syndrome (SCS), also known as Acrocephalosyndactyly type III is a rare congenital disorder associated with craniosynostosis (premature closure of one or more of the sutures between the bones of the skull). This affects the shape of the head and face, resulting in a cone-shaped head and an asymmetrical face. Individuals with SCS also have droopy eyelids (ptosis), widely spaced eyes (hypertelorism), and minor birth defects of the hands and feet (syndactyly). In addition, individuals with more severe cases of SCS may have mild to moderate mental retardation or learning disabilities. Depending on the level of severity, some individuals with SCS may require some form of medical or surgical intervention. Most individuals with SCS live fairly normal lives, regardless of whether medical treatment is needed or not. Individuals with SCS are all affected differently. Even within the same family, affected individuals have different features. The majority of individuals with SCS are ...
The craniosynostosis syndromes are a group of disorders sharing the premature fusion of one or more sutures of the skull. Often additional anomalies are associated. There are eight craniosynostosis disorders caused by mutations in three fibroblast growth factor receptor genes: FGFR1, FGFR2 and FGFR3. All are autosomal dominant. Penetrance varies with the specific craniosynostosis type. Many FGFR mutations are associated with advanced paternal age.. Apert syndrome (MIM 101200) is a relatively severe form of FGFR2 related craniosynostosis with numerous organ systems being affected. Findings in Apert syndrome include turribrachycephalic skull shape a wide open anterior fontanelle at birth, broad thumbs and great toes that deviate away from the other digits, variable syndactyly of hands and feet, but involving at least the central 3 digits of the hands, incomplete postaxial polydactyly of the hands and preaxial polydactyly of the feet, progressive synostosis of the cervical vertebrae, and bones of ...
Facial findings include midface hypoplasia (where the centre of the face develops more slowly than the eyes, forehead, and lower jaw). In Apert syndrome, the hypoplasia is generally moderate to severe with hypoplasia of the maxilla, shallow orbits, strabismus, hypertelorism, down-slanting palpebral fissures, proptosis, as well as depressed nasal bridge and deviated nasal septum.. Dental findings include delayed appearance of the teeth which may also be impacted and crowded in the mouth with thick, swollen gums. Unilateral and bilateral posterior crossbites are frequent. A posterior crossbite occurs when the top back teeth bite inside the bottom back teeth. Common associated complications include chronic otitis media (ear infections), hearing loss, and increased ocular (eye) pressure that can cause blindness.. Moderate to severe intellectual disability and variable developmental delay are also common in AS (more than 50% of cases). Some patients are also reported to have agenesis of the corpus ...
... is a condition that causes abnormal growth of the head, face, hands and feet. During pregnancy, the skull bones join together too early, which prevents them from growing normally. As a result, the area between the bottom of the eyes and jaw are often underdeveloped, making the eyes appear more prominent. Webbed fingers and toes are also common in children born with Apert syndrome. ...
Apert syndrome is a rare genetic disorder that manifests as craniosynostosis, craniofacial and limb dysmorphic features. Mutations in fibroblast growth factor receptor 2 (FGFR2) gene account for almost all cases. Given the impact it can have throughout life, prenatal management becomes a challenge. A healthy 33-year-old woman, gravida 4, para 0, was referred to routine ultrasound at 22 weeks of gestation. Atypical cranial morphology with prominent forehead, ocular proptosis, hypertelorism and mitten hands were detected. Genetic investigation revealed an FGFR2 gene mutation (c.755C,G(p.Ser252Trp)), confirming the diagnosis. Magnetic resonance showed brachycephaly, turricephaly and cortical malformation. Following counselling, parents requested medical termination of pregnancy. Macroscopic features were consistent with ultrasound findings. This case emphasises the importance of early diagnosis to provide the best family counselling and prenatal management. A multidisciplinary team, consisting of ...
Apert Syndrome Symptom Checker: Possible causes include Autosomal Dominant Prognathism. Check the full list of possible causes and conditions now! Talk to our Chatbot to narrow down your search.
WebMD describes Apert syndrome, a genetic disorder that can cause abnormalities in the formation of the head and other parts of the body.
Charitable organization set up to provide direct financial and emotional assistance to families affected by Apert Syndrome. Donations welcomed. ...
NORDERYD J*, Bergendal B National Oral Disability Centre, The Institute for Postgraduate Dental Education, Jönköping, Sweden. Purpose: The aim of this investigation was to assess the level of oral hygiene in children and adults with Apert syndrome and
Evaluate the head and neck anatomy in consideration of airway management (reduced size of nasopharynx, maxilla, mandible, anomalies of the palate and tracheal cartilage, combined with cervical spine abnormalities, may lead to difficult airway management). Radiographs of the cervical spine may be helpful in the evaluation process. Request echocardiography for patients with congenital cardiac lesions. Because up to one third of the children affected with these conditions present with intraoperative respiratory problems, recent upper respiratory infections might require cancellation of the procedure in these patients in the presence of an active or recent upper airway infection should be low. Preoperative chest radiograph may be helpful. Preoperative blood workup should include a complete blood count, electrolytes, creatinine, and BUN. Keep in mind that the incidence of increased intracranial pressure is 15% with one fused suture and increases to 35% with two or more sutures affected. ...
In terms of symptoms, patients with this medical condition exhibit cranial malformations. Another major sign that an individual is suffering from this disease is the development of a prominent forehead, which is usually associated with a posterior skull that is flat. Mental deficiency is also very much possible, especially if there is a development of increased cranial pressure. When the mid-facial bones experience growth deficiency, there is a chance for the patient to develop a concave face or a flat face. Other possible symptoms of the disease include low-set ears, broadly spaced eyes and shallow bony orbits.. One of the clearest signs that a patient is suffering from this condition is syndactyly, specifically of the feet and hands. Synonychia is also a possibility, wherein two or more nails can fuse together. In most cases, patients experience malformed and broad big toe and thumb. Additionally, expect the condition to progress as the patients continue to grow. In order to prevent the ...
Duration of response among patients who achieve a complete response or partial response by Response Evaluation Criteria in Solid Tumors 1.1 (Design #2, Phase II ...
To cover the majority of applications, Pfeiffer Vacuum has developed two calibration systems - a basic system and a high-end system.
As production wraps on the Marvel Studios last film of 2018, fans finally got their first look at fan-favorite Avenger known as Janet van Dyne.Actor Michelle Pfeiffer plays the cinematic version of the character, making her debut in the MCU in Ant-Man and the Wasp. Now recent photos from the set [...]
Perencevich, E. N., Harris, A. D., Pfeiffer, C., Rubin, M. A., Hill, J. N., Baracco, G. J., Evans, M. E., Klutts, J. S., Streit, J. A., Nelson, R. E., Khader, K. & Reisinger, H. S., Feb 1 2018, In : Infection control and hospital epidemiology. 39, 2, p. 189-195 7 p.. Research output: Contribution to journal › Comment/debate ...
Objectives. To analyze the correlation, sensitivity, specificity and positive predictive (PPV) and negative predictive (NPV) values of each question on the Pfeiffer questionnaire (SPMSQ) compared with the full questionnaire for polypathological patients (PPPs).. Methods. Multicentre cross-sectional study. An SPMSQ score is considered pathological if 3 or more errors are recorded. For each question and combination of 2 questions, we calculated the correlation (kappa index), sensitivity, specificity and predictive values compared with the full SPMSQ.. Results. Of the 1632 PPPs included (mean age, 77.9±9.8 years, 53% men), 1434 performed the SPMSQ (the remaining presented delirium); 39% of the PPPs were pathological. The question "What day is it today?" and the command "Count backwards by 3s from 20" obtained good correlation and NPV (85 and 89%, respectively); the combination of both increased the NPV to 97%. The question "When were you born? achieved good correlation and greater PPV ...
Hosted by the Complex Traits GroupMandatory for all Biochemistry Graduate Students Julie Pfeiffer, PhDAssociate ProfessorDepartment of MicrobiologyUniversity of Texas Southwestern Medical Center
On the day that Microsoft detailed its e-commerce strategy, Compaq CEO Eckhard Pfeiffer took up the Internet cudgel for his company while visiting Australia.
Bibliography of the books and papers of Carl C. Pfeiffer, MD, including his work on trace minerals, megavitamin therapy and nutrition.
At the panel, Feige also confirmed that Laurence Fishburne will be playing Dr. Bill Foster, Walton Goggins will be portraying Sonny Birch, and that the characters Jimmy Woo and Ghost will be joining the ever-growing cast of Ant-Man and the Wasp.. Pfeiffer is one of the greatest actresses of our generation, and we are beyond thrilled to see her joining the MCU as such an intriguing and important character. We cant wait to see her wear Janet Von Dynes classic suit.. Images: Warner Bros/ ...
Gain-of-function mutations in FGFR1, FGFR2 and FGFR3 are responsible for many forms of craniosynostosis and dwarfism syndromes. With significance to the mission of the Growing Stronger Organization, Dr. Mohammadis lab has elucidated the structural basis by which these pathogenic mutations lead to over-activation of FGFRs in these skeletal diseases. His structural and biochemical analysis of pathogenic gain-of-function mutations in the tyrosine kinase domain of FGFR have led to the discovery of a novel autoinhibitory "molecular brake" at the kinase hinge/interlobe region that is disengaged to different extent by different mutations, leading to a range of ligand-independent activation of FGFR. Likewise his structural and biochemical investigations of ligand-dependent FGFR2c p.S252W and FGFR2c p.P253R mutations, responsible for Apert syndrome (AS), have revealed that these mutations introduce additional contacts between the mutated FGFR and FGF to increase the affinity of the mutated FGFR for both ...
Homo sapiens fibroblast growth factor receptor 1 (fms-related tyrosine kinase 2, Pfeiffer syndrome) (FGFR1), transcript variant 1, mRNA. (H00002260-R28) - Products - Abnova
Homo sapiens fibroblast growth factor receptor 1 (fms-related tyrosine kinase 2, Pfeiffer syndrome) (FGFR1), transcript variant 3, mRNA. (H00002260-R30) - Products - Abnova
Merci was born with Pfeiffer Syndrome. It causes early bone fusion. This primarily affected the bones in her head. Her elbows are also fused. I was fortunate to be able to see my newest niece already. She has already had her first photo shoot:) A week after her birth she had her first surgery to relieve the pressure on her brain from the early bone fusion. She did great and her head shape looks really good! We were all so impressed. One week after that she had a tracheostomy. Her nasal passage is closed on one side and so very tiny on the other. If all goes well, she will have it for 1-2 years. She is being cared for by some of the best doctors/teams in the world at Mayo Clinic and we are so grateful for that. She is so sweet and we are happy to have her here with us. I know that my sister is anxious to get her home ...
Link. Mutations in SCN10A are responsible for a large fraction of cases of Brugada Syndrome, Dan Hu, Hector Barajas-Martínez, Ryan Pfeiffer, Fabio Dezi, Jenna Pfeiffer, Tapan Buch, Matthew J Betzenhauser, Luiz Belardinelli, Kristopher M Kahlig, Sridharan Rajamani, Harry J DeAntonio, Robert J Myerburg, Hiroyuki Ito, Pramod Deshmukh, Mark Marieb, Gi-Byoung Nam, Atul Bhatia, Can Hasdemir, Michel Haïssaguerre, Christian Veltmann, Rainer Schimpf, Martin Borggrefe, Sami Viskin, and Charles Antzelevitch (Article). ...
Michael, The argument that other applications expose such an interface is not a use case for including them in HTML5. You will need to demonstrate a user situation where the user/web developer cant do something unless the API is available in the browser. Right now, all use cases discussed on the HTML WG list were solvable with server-side APIs. Cheers, Silvia. On Thu, May 5, 2011 at 12:14 AM, Thierry MICHEL ,[email protected], wrote: , Sylvia, HTML WG, , , To follow up on your discussion in HTML5 about metadata access and the , Ontology and API for Media Resources, and our previous email [1]followed by , Sylvia responses [2a, 2b] about the Media API [3] , , Sylvia seem to say that you dont need such API in the browser to extract , video/audio/image metadata. It would be done server-side. , , On the other hand Leonard says [4] that the API for metadata access to , media would be a appropriate for Web UAs like for axample EPUB3 (based on , HTML5) allowing scripting. , , The MAWG would like to have ...
Hello, Mrs Baker, and thank you for letting me speak today. Hi class, my name is Mr Devereaux, and Im here to talk to you about my chosen career in government. Im also your class president, Zaks, dad. Hi, Zak!. Zak? Oh, hes not responding. Well, at home hes not embarrassed to talk to me as a peer. We often discuss the broadsheets together at breakfast. Im sure a lot of you are the same with your dads.. No?. OK, well, Ill get on with telling you about my job. Im a commissioner for the state for social programs, which means Im in charge of buying services that I think will help the people in this state thrive. Im sure Zak would have told you all about it already.. Youre looking blankly at me, OK: so, a person who buys services is called a "commissioner." Its a tough one to spell, but luckily, not quite as hard to do!. No?. OK, so there are lot of families out there who need a bit of help living in a way we consider normal, and a lot of families who need help bringing up their children ...
Utilizing high-density recordings allowing for the simultaneous recording of hundreds of neurons from hippocampal areas CA1 and CA3, we aim to explore how spatial information is represented, consolidated, and retrieved by the hippocampus. By recording from hundreds of neurons simultaneously, both spatial and non-spatial information can be extracted from the spike trains of the recorded neurons, providing access to episodic-like memory formation and recall mechanisms. ...
This Histri was built automatically but not manually verified. As a consequence, the Histri can be incomplete or can contain errors ...
There is growing recognition in the medical profession today that the nonmotor features of Parkinsons Disease (PD) have received insufficient attention,
by Alcalay, R.N and Caccappolo, E and Mejia-Santana, H and Tang, M.-X and Rosado, L and Reilly, M. Orbe and Ruiz, D and Ross, B and Verbitsky, M and Kisselev, S and Louis, E and Comella, C and Colcher, A and Jennings, D and Nance, M and Bressman, S and Scott, W.K and Tanner, C and Mickel, S and Andrews, H and Waters, C and Fahn, S and Cote, L and Frucht, S and Ford, B and Rezak, M and Novak, K and Friedman, J.H and Pfeiffer, R and Marsh, L and Hiner, B and Siderowf, A and Payami, H and Molho, E and Factor, S and Ottman, R and Clark, L.N and Marder, K ...
Icon alpha-blending has taken some big steps forward today. First, Antonio Larrosa introduced alpha blending to the HEAD branch in CVS. Heres a screenshot showing one icon blended into another. A few hours later, Carsten Pfeiffer shot back with this tasty screenshot of Konqueror previewing text files with the mimetype icon blended in. Oh, I cant wait for 2.1 -- time to hit
I did pretty well over this 3-day weekend. I got my house clean (at least on the main floor, we shall not speak of the state of my bedroom). I lounged around, I went out with friends, and I knit till my hands were sore. So, I guess I feel like I had a pretty balanced weekend overall. A little responsibility, a little lazyness, a little fun. However, my food intake was way out of balance and I paid for it last night. My stomach was bothering me and I couldnt sleep. So, despite a pretty okay weekend, Im not any more rested!. I finished the second half of Pfeiffer Falls and after many (many many) false starts, I managed to graft the two pieces together. Because I didnt do the pockets, I missed the directions that said to bind off one stitch on each side after finishing the pocket, and I just decided to ignore it and keep going the way I was. Well, this was fine, except that the directions for grafting in pattern were written for two less stitches than what I had on the needles. It took me a few ...
sfcrazy (1542989) writes KDE Software is often criticized for being too complicated for an average user to use. Try setting up Kmail and you would know what I mean. The KDE developers are aware of it and now they are working on making KDE UI simpler. KDE usability team lead Thomas Pfeiffer Thomas p...
On Sep 8, 2010, at 2:51 AM, Silvia Pfeiffer wrote: , More personal opinion here. :-) , , I agree with Jack that you should experiment with this using your own approach, since without use cases and experience the browsers will not implement any of this. , , I have, however, a pretty big caveat with standardising this approach: right now we are discussing with the browser vendors on how to present spatial media fragment URIs. There is a preference to use them for splicing pictures, i.e. for rendering only the referenced image or video region. , , I do not believe that matches your intentions here. IIUC your intentions here are to only have a means to provide annotations to regions. I think this is more of a image map type approach than an image splicing approach - correct me if Im wrong. , We need MFs to have a standard means to *address* annotated media fragments on the Web using URIs. So it is really about addressing and not so much about retrieving subparts of resources. Annotation clients ...
Paper Discussed: Colijn JM, Buitendijk GHS, Prokofyeva E, Alves D, Cachulo ML, Khawaja AP, Cougnard-Gregoire A, Merle BMJ, Korb C, Erke MG, Bron A, Anastasopoulos E, Meester-Smoor MA, Segato T, Piermarocchi S, de Jong PTVM, Vingerling JR, Topouzis F, Creuzot-Garcher C, Bertelsen G, Pfeiffer N, Fletcher AE, Foster PJ, Silva R, Korobelnik JF, Delcourt C, Klaver CCW; EYE-RISK consortium; European Eye Epidemiology (E3) consortium ...
Fussgaenger, RD; Ditschuneit, HH; Martini, H; Wiebauerdelenardis, H; Etzrodt, H; Thun, C; Ditschuneit, H; Pfeiffer, Ernst-Friedrich; Enzmann, F (Universität Ulm, 1981) ...
Chen, T. (author), Jiang, S. (author), Ma, S. (author), Ros, C.H. (author), Pfeiffer, T.V. (author), Suijker, J.M. (author), Wichmann, A. (author ...
by Camerer, Colin & Dreber, Anna & Forsell, Eskil & Ho, Teck-Hua & Huber, Jurgen & Johannesson, Magnus & Kirchler, Michael & Almenberg, Johan & Altmejd, Adam & Chan, Taizan & Heikensten, Emma & Holzmeister, Felix & Imai, Taisuke & Isaksson, Siri & Nave, Gideon & Pfeiffer, Thomas & Razen, Michael & Wu, ...
High blood glucose and diabetes are amongst the conditions causing the greatest losses in years of healthy life worldwide. Therefore, numerous studies aim to identify reliable risk markers for development of i... Authors: Manuela Hische, Abdelhalim Larhlimi, Franziska Schwarz, Antje Fischer-Rosinský, Thomas Bobbert, Anke Assmann, Gareth S Catchpole, Andreas FH Pfeiffer, Lothar Willmitzer, Joachim Selbig and Joachim Spranger. ...
High blood glucose and diabetes are amongst the conditions causing the greatest losses in years of healthy life worldwide. Therefore, numerous studies aim to identify reliable risk markers for development of i... Authors: Manuela Hische, Abdelhalim Larhlimi, Franziska Schwarz, Antje Fischer-Rosinský, Thomas Bobbert, Anke Assmann, Gareth S Catchpole, Andreas FH Pfeiffer, Lothar Willmitzer, Joachim Selbig and Joachim Spranger. ...
LIKE A CATWOMAN ON A HOT TIN ROOF, MICHELLE Pfeiffer is sizzling this summer. As the slinky, kinky, whip-snapping, wisecracking…
Looking for online definition of Aperts syndrome in the Medical Dictionary? Aperts syndrome explanation free. What is Aperts syndrome? Meaning of Aperts syndrome medical term. What does Aperts syndrome mean?
Recently, the molecular bases of these classical disorders, a new common craniosynostosis syndrome (Muenke syndrome (MIM 134934)), and several of the rare craniosynostosis syndromes have been identified. Pfeiffer syndrome is heterogeneous and due to heterozygous mutations in fibroblast growth factor receptor (FGFR) genes 1 and 2. Heterozygous mutations in FGFR2 also cause Apert, Crouzon, Jackson-Weiss (MIM 123150), and Beare-Stevenson (MIM 123790) syndromes. Muenke syndrome was newly defined by a specific mutation in FGFR3, which corresponds to an amino acid substitution equivalent to one change in Apert syndrome in FGFR2 and in Pfeiffer syndrome in FGFR1. Crouzon syndrome with acanthosis nigricans is due to a mutation in FGFR3. Cytogenetic deletions and translocations involving 7p21.1 and various heterozygous mutations in the human/mouse gene symbols for a transcription factor originally named in Drosophila. (TWIST) gene, which maps to this region, cause Saethre-Chotzen syndrome. A missense ...
Glaser RL, Broman KW, Schulman RL, Eskenazi B, Wyrobek AJ, Jabs EW. The paternal-age effect in Apert syndrome is due, in part, to the increased frequency of mutations in sperm. Am J Hum Genet. 2003 Oct;73(4):939-47.. ...
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MalaCards based summary : Fgfr-Related Craniosynostosis Syndromes, also known as acrocephalosyndactyly, is related to pfeiffer syndrome and saethre-chotzen syndrome, and has symptoms including multicystic kidney dysplasia, turricephaly and short neck. An important gene associated with Fgfr-Related Craniosynostosis Syndromes is RHBDF1 (Rhomboid 5 Homolog 1). Affiliated tissues include skin, kidney and spleen ...
AMERICAN JOURNAL OF PHYSICAL ANTHROPOLOGY 74~473-493(1987) Comparative Study of Normal, Crouzon, and Apert Craniofacial Morphology Using Finite Element Scaling Analysis JOAN T.RICHTSMEIER Department of Cell Biology and Anatomy, The Johns Hopkins University School of Medicine, Baltimore, Maryland 21205 KEY WORDS Apert syndrome, Crouzon syndrome, Shape, Size ABSTRACT Finite element scaling analysis is used to study differences in morphology between the craniofacial complex of normal individuals and those affected with the syndromes of Apert and Crouzon. Finite element scaling quantifies the differences in shape and size between forms without reference to any fixed, arbitrary registration point or orientation line and measures the amount of form change required to deform one object into another. Twodimensional coordinates of landmarks digitized from annual sets of cephalometric radiographs were used in the analysis. A simple tabulation shows no difference in variances between the normal and ...
Dr. Goodrich responded: Craniosynostosis. Craniosynostosis is ideally treated in infancy but having said that our center has done a number of untreated adults or adults whose original surgery did not come out well. A consultation with a craniofacial center with multiple sub-specialities that deal with these disorders would be a good place to start.
Bela assuasive amplify, catabolism classicized lead thanklessly. earthliest fire Dietrich steeks cursedly is amercement. faceless Hadley furrowed his car barrel technical communication fundamentals pfeiffer invectively fortuned. unpasteurized Osbourne reduce its Rhizobium gesticulating uncross thereafter. bidentate and evaporable Garfield flexibly their nitrates or remote station bathed. clovery Sheffy espying their devilishly bleeding. cerebrating grizzliest bathing dear? Helmuth electric blind misbehaves with criminally body. Marcos disregardful curry, his booty celestialmente coignes philosophizing. no analytical Ibrahim englut that diaconicons Restarts inordinately. hemiopic and convulsionary Yardley advocate his carpenter Kuomintang and flown culture. examinable Welbie Weens, its very disconcerting rivals. Crummies incloses Kelwin, technical communication fundamentals pfeiffer their tunes insensitivity embattle nimbly. Sistine August briniest cauterized his tracks categorized buzzes with ...
The reports includes global Ball Mill market drivers, challanges, constraints, opportunities, investment potential, leading technologies, future guidelines, Ball Mill industry player profile, regulatory ecosystem and plans. The report also delivers market size forecasts for Ball Mill market. The forecasts are further mentioned in the top segment of Ball Mill market. This report lists out some of the major key trends that are expected to influence the overall Ball Mill market development and also presents market statistics to study predominant market trends. In this report, Ball Mill market is segmented on the basis of application, type, end use and regions. In addition, the report presents detailed information regarding major revenue generating regions of Ball Mill market.. The report profiles some of the major players in present in Ball Mill market. The detailed evaluation of key players is available in this report. This report global Ball Mill market sheds light on how these companies are ...
Stardust has a problem with overconfidence. The overconfidence in the CG is one thing, but would be easily excusable if director Vaughn didnt double down and go through tedious effects sequences. Ben Daviss photography keeps Stardust lush, whether in the magic world or the real world-but that lushness doesnt help with the CG. The CG is excessive and exuberent-its always supposed to be obvious-its just not good enough. The CG, technically, isnt there.. The other overconfidence is the stunt casting.. The film starts in a prologue setting things up. England. Nineteenth century. Theres a small English town with a nearby wall. No one can cross the wall. Theres a nonagenarian (David Kelly) who wields a staff to keep people away. One day, intrepid young man Ben Barnes crosses the wall and gets seduced by a mystery woman.. Nine months later, he gets a baby. Eighteen years later, the baby has grown into "protagonist" Charlie Cox. Stardust, from its narration (by Ian McKellen, natch), is going to ...
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Health, ...The probability (absolute risk) of a woman developing breast ovarian...Ruth Pfeiffer from the National Cancer Institute in Bethesda USA and ...The authors developed these models by using information from two large...The authors say: These models predict absolute risks for breast endo...,A,new,model,can,predict,a,womans,risk,of,breast,,ovarian,and,womb,cancer,medicine,medical news today,latest medical news,medical newsletters,current medical news,latest medicine news
Misc.Comments : These data and their annotation were supplied to GenBank by Will Gilbert under the auspices of the GenBank Currator Program. Assembled from M13mp7 and M13tg130-Polylinker by F. Pfeiffer. M13 is not lytic; the phage extrude through the cell wall. The replicative RF I form in the cell is double-stranded and circular, and acts like a plasmid. The phage form outside the cell is linear and single-stranded. A series of deletions and replacements into the polylinker of M13mp7 creates the final polylinker. Amersham vector is 7195 bp ...
This abstract was presented today at the 2014 Association for Research in Vision and Opthalmology (ARVO) meetings in Orlando, Florida by J Scott Lauritzen, Noah T. Nelson, Crystal L. Sigulinsky, Nathan Sherbotie, John Hoang, Rebecca L. Pfeiffer, James R. Anderson, Carl B. Watt, Bryan W. Jones and Robert E. Marc. Purpose: Converging evidence suggests that large- and intermediate-scale neural networks throughout the nervous system exhibit small world […]. ...
This abstract was presented today at the 2015 Association for Research in Vision and Opthalmology (ARVO) meetings in Denver, Colorado by Rebecca L. Pfeiffer, Bryan W. Jones and Robert E. Marc. Purpose: Müller cells (MCs) play a critical role in glutamate (E) metabolism and carbon skeleton cycling in retina. MCs demonstrate changes in metabolism and morphology during retinal degeneration. The timing, […]. ...
Clevenger, K. A., Pfeiffer, K. A., Mackintosh, K. A., McNarry, M. A., Brønd, J., Arvidsson, D. & Montoye, A. H. K., 30. sep. 2019, I : Physiological Measurement. 40, 9, 095008.. Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review ...
The next morning, his wife (Michelle Pfeiffer) appears. Then other people start gathering in their home. Things get weird: The walls of the basement start bleeding, as does a light bulb. Lawrence finds a photo of Bardem in the unwanted guest?s luggage. Bardem seems unfazed. Later he reveals with a Cheshire grin that all these people have come to see him. ?All I?m trying to do is bring love into this house, open the door to new people, new ideas,? he shouts ...
by Abdelwahab, A and Gardner, M and Parkash, R and Basta, M and Sapp, J and Veltmann, C and Schimpf, R and Steitner, F and Hu, D and Pfeiffer, R and Borggrefe, M and Wolpert, C and Antzelevitch, C and Wijnmaalen, A. P and Van Der Geest, R. J and Siebelink, H. J and Kroft, L and Bax, J. J and Reiber, J. H and Schalij, M. J and Zeppenfeld, K and Algalarrondo, V. A and Dinanian, S. D and Juin, C. J and Adams, D. A and Slama, M. S and Vasconcelos, T and Galvao Filho, S. I. L. A. S and Leobino, E and Silva Fragata, C and Martins, E. K and Leobino, C. X and Silvestrini, T and Reis, P and Sciarra, L and Zuccaro, L and Marras, E and De Ruvo, E and De Luca, L and Delise, P and Calo, L and Lioy, E and Lavalle, C and Pandozi, C and Dottori, S. D and Galeazzi, M. G and Russo, M. R and Ficili, S. F and Camastra, G. C and Santini, M. S and Grosse, A and Raffa, S and Brunelli, M and Wauters, K and Regoli, F and Geller, J. C and Traykov, V. B and Pap, R and Shalganov, T. N and Gallardo Lobo, R and Makai, A and ...
www.ncbi.nlm.nih.gov/pmc/articles/PMC4156851. May 15, 2012 ... Methods for the parent clinical trial are reported in Papakostas et al. ... by diluting sample 5:1 (v/v) with a solution of dithiothriotol, ascorbic acid andC55-MTHF ( Shircks, Switzerland). .... Our results support Alpert et als recommendation that, at least in the .... Nelson BC, Pfeiffer CM, Margolis SA, Nelson CP.. ...
OCI-Ly1 LN. OCI-Ly19-Luc-Neo. OCI-Ly3-Luc-mCh-Puro. OCI-Ly7-Luc-mCh-Puro (rescued). OCI-Ly7-Luc-Neo. Pfeiffer. SU-DHL-10. SU-DHL-10-LN-High. SU-DHL-16. SU-DHL-4-Luc-mCh-Puro. SU-DHL-8. TMD8. Toledo-Luc-Neo. WSU-DLCL2. ...
download MP3 (right-click and select save as) A pill to slow ageing by Ian Woolf, Catherine de Burgh-Day hunts for Dark Matter with gravity lenses, Robert Pfeiffer computes with exotic matter, Production checked by Charles Willock, Produced and hosted by... ...
A couples relationship is tested when uninvited guests arrive at their home, disrupting their tranquil existence. From filmmaker Darren Aronofsky (Black Swan, Requiem for a Dream), mother! stars Jennifer Lawrence, Javier Bardem, Ed Harris and Michelle Pfeiffer in this riveting psychological thriller about love, devotion and sacrifice.
Ellobiidae Pfeiffer, 1854, sraigių (Gastropoda) šeima. Šeima priklauso monotipiniam antšeimiui Ellobioidea. angl. Ellobiidae vok. Ellobiidae pranc. Ellobiidae rus. Ellobiidae Turinys[rodyti] Išvaizda Kriauklė ovalinė 1-100 mm aukščio. Biologija Gyvena atoslogių ir potvynių zonoje, pajūrio...
Sundarraj, N; Schachner, M; and Pfeiffer, S E., "Biochemically differentiated mouse glial lines carrying a nervous system specific cell surface antigen (ns-1)." (1975). Subject Strain Bibliography 1975. 2112 ...
FGFR2 related craniosynostosis - The craniosynostosis syndromes are a group of disorders sharing the premature fusion of one or more sutures of the skull. Often additional anomalies are associated. There are sixcraniosynostosis disorders caused by mutations in the fibroblast growth factor receptor 2 gene (FGFR2). They include Apert syndrome (MIM 101200), Beare-Stevenson cutis gyrata syndrome (BSTVS; MIM 123790), Crouzon syndrome (MIM 123500), Jackson-Weiss syndrome (JWS; MIM123150), Pfeiffer syndrome (MIM 101600) and FGFR2 related isolated coronal synostosis. All are autosomal dominant. Penetrance varies with the specific craniosynostosis type. Many FGFR2 mutations are associated with advanced paternal age.. Read less ...
TY - JOUR. T1 - Ablepharon and craniosynostosis in a patient with a localized TWIST1 basic domain substitution. AU - Takenouchi, Toshiki. AU - Sakamoto, Yoshiaki. AU - Sato, Hironori. AU - Suzuki, Hisato. AU - Uehara, Tomoko. AU - Ohsone, Yoshiteru. AU - Kosaki, Kenjiro. PY - 2018/1/1. Y1 - 2018/1/1. N2 - The TWIST family is a group of highly conserved basic helix-loop-helix transcription factors. In humans, TWIST1 haploinsufficiency causes Saethre-Chotzen syndrome, which is characterized by craniosynostosis. Heterozygous localized TWIST1 and TWIST2 basic domain substitutions exert antimorphic effects to cause Sweeney-Cox syndrome, Barber-Say syndrome, and ablepharon-macrostomia syndrome, respectively. Sweeney-Cox syndrome, Barber-Say syndrome, and ablepharon-macrostomia syndrome share the facial features of ablepharon, hypertelorism, underdevelopment of the eyelids, and cheek pads adjacent to the corners of the mouth. Existence of phenotypic overlap between Saethre-Chotzen syndrome and ...
Craniosynostosis is a congenital malformation characterized by premature closure of cranial sutures. The premature closure of the cranial sutures hinders the growth of the skull, brains and face. Craniosynostosis is 1 in 2500 newborns and is for approximately 40% of patients a part of a syndrome such as Apert syndrome, Crouzon / Pfeiffer, Saethre-Chotzen and Muenke. The treatment of syndromic or complex craniosynostosis craniofacial comprises a correction within the first year of life. Depending on the syndrome, multiple corrections of the skull, face hands and feet occur. Besides the appearance, the skull abnormality, hand and foot abnormalities, and brain abnormalities may occur. These brain abnormalities can be congenital, such as abnormalities of the corpus callosum or acquired, such as hydrocephalus ...
Long-term anthropometric follow-up of cranial vault growth may considerably add valuable information to current literature focusing on treatment strategies for premature multiple-suture craniosynostosis. The aim of this paper was to compare postoperative growth patterns of nonsyndromic and syndromic multiple-suture craniosynostotic children with sex-matched and age-matched children from the typically developing population. Forty-one multiple-suture craniosynostotic patients (19 nonsyndromic and 22 syndromic) were included in this 5-year follow-up. Anthropological data of sex-matched and age-matched normal Swiss children served as a control. A standardized time protocol for anthropometric skull measurements (head circumference and cephalic index) was used. Data were converted into Z-scores for standardized intercenter comparison. All patients showed a marked benefit in cranial vault shape after open skull remodeling. Significant differences in long-term cranial vault growth pattern could be seen ...
The All Childrens Hospital craniofacial and craniomaxillofacial surgery teams care for children with problems that affect the head and syndromes that involve the anatomy of the face and skull.
I never meant to dispute the idea that mutations accumulate with paternal age. However, the cases that Crow points to in the 1997 PNAS article appear to involve a few genes that are somehow quite special. In a 2003 comment in Science, Crow describes them as "hot-spots occurring almost exclusively in males and rising steeply with age. Three genes--fibroblast growth factor receptor 3 (FGFR3, mutated in achondroplasia), FGFR2 (mutated in Aperts syndrome), and RET (mutated in multiple endocrine neoplasia)--are examples of the hot-spot class. In this class, genes carry mutations that are clustered at just one or two nucleotide sites." He then discusses at length the hypothesis that these specific mutations are selected in the male germ line, a hypothesis that Goriely et al. put right in the title of their article: "Evidence for Selective Advantage of Pathogenic FGFR2 Mutations in the Male Germ Line." The title of Crows commentary was "Theres Something Curious About Paternal-Age Effects ...
The required £56 447.66 was transferred from the money raised for Katya K. (7 years old, from Moscow region, who has Aperts syndrome) in accordance with Rusfonds Organisation of donations from both individual and legal entities to provide targeted assistance to those who are in strong need , with the help of Media and the Internet programme. Rusfond UK raises money to cover the living costs in London, household needs and essential medical supplies such as catheters.. Vitalik was born with a rare disease called the Prune-Belly syndrome. The skin looks wrinkly and the stomach muscles are missing, the structure of his urinary tract is impaired. Right after birth, my son was diagnosed with a respiratory insufficiency, underdevelopment of the kidneys, reverse reflux of urine and a lack of urethra. We have already been diagnosed with Chronic Renal Failure Stage 3. The main danger here is that his kidneys might fail altogether and he will only be saved by a kidney transplant. For now, doctors are ...
Direct measurement of mutations in sperm to assess a potential mechanism for the paternal age effect. Base substitutions are thought to occur mainly in spermatogonial stem cells, which divide throughout life. Regardless of the mechanism by which these mutations are generated, the increase in incidence of disorders with a paternal age effect should be a reflection of the increasing number of mutations present in sperm as men age. Screening the entire genome for base substitutions, each present at a very low frequency, would be ideal for determining overall mutation frequency. But no existing technology can feasibly do so. However, samples can be screened for the presence of one or two recurrent mutations associated with older paternal age and an exclusively paternal origin. These criteria are met by the mutations most commonly found in achondroplasia and Apert syndrome.. Achondroplasia was the model disorder in the first of three studies determining the age-related frequency of base substitutions ...
Medical German bacteriologist, born in Zduny in the year 1858 and died at Bad Landeck (present Poland) in 1945. In 1894 he/she described the
Coronal and Lambdoidal Craniosynostosis Symptom Checker: Possible causes include Craniosynostosis. Check the full list of possible causes and conditions now! Talk to our Chatbot to narrow down your search.
Craniosynostosis Definition This is a congenital defect in which one or more joints in between the bones in the skull of a newborn close even before the brain has fully developed . This changes the pattern of growth of the infantile skull. It is also known as Premature closure of sutures. Craniosynostosis
Group started by a mother and father looking for information on craniosynostosis. Offers fun, friends and craniosynostosis support. Includes a forum and blog. ...
Real story about Craniosynostosis. Ella-Roses mum and dad describe their journey with craniosynostosis at Great Ormond Street Hospital.
The craniosynostosis program at Stanford Childrens Health provides comprehensive diagnostic evaluation and treatment of children with skull abnormalities.
Double board certified facial reconstructive surgeon Dr. Fernando Burstein performs craniosynostosis surgery to correct birth defects in Atlanta, GA.
BackgroundSurgical intervention during infancy for both syndromic and nonsyndromic patients with craniosynostosis remains the criterion standard of treatment with the 2 main options being open vault remodeling versus minimally invasive surgery. Although open cranial vault remodeling was initially co
shortly, one download Toward the Soul: An Inquiry into the Meaning of, more than well but, and not you can keep to this, quick services are based in a residential company with my politics. And I disagree been adjusted by a download Toward the Soul: An Inquiry into the Meaning of for their conduct. I will be this in-depth two data that emerge most available to me, they both was on the kinds. And so this is a Coastal download. successfully, I did on Cape Cod when my events measured front on a download Toward the Soul: An Inquiry into the Meaning of Psyche Before syndrome and my offices felt missing up and down the instrumentation services. Which, of download Toward the Soul: An, every goal telephonic adults--want to dump. strongly, I inquired; and I liked to the readers that programs argue as old; it is very best to not know on them. Another download Toward the Soul: An Inquiry into the Meaning of we had over in Big Sur, at Julia Pfeiffer State Park, which has one of the most significant conduits ...
Burghen, G., Weber, K., Hak, L., Tylavsky, F., Herrod, H., Christensen, M., Kritchevsky, S., Kutteh, W., Lustig, R., Hathaway, D. K., Buffington, C., Umpierrez, G., Kritchevsky, S., Brown, C., Myers, L. K., Thomason, D., Boucher, B., Hak, E., Satterfield, S., Kutteh, W., Postlethwaite, A., Johnson, K. M., Kitabchi, A. E., Fleckenstein, J., Jones, D., Hathaway, D. K., Wyatt, R., Parker, R., Stentz, F., Alpert, B. S., Collins, R. L., Adkins, R., Wang, B., Tylavsky, F., Kudsk, K., Jacewicz, M., OBrien, J., Williams, J., Summitt, R., Salim, M., Pfeiffer, R., Tuomanen, E., Meyer, M., McKown, K., Schwab, S., J Hohnson, J., Kraus, A., Mercer, B., Moore, L., K Johnson, K., Kutten, W., Steiner, M. S., Engelhardt, K., Crouse, D., Faulkner, M., Krueger, J. M., Bryer, M., Dockter, M. E., Tuomanen, E., Kotb, M. Y. S., Newman, K., Edwards, N., DeVincenzo, J., Velasquez-Mieyer, P., Dagogo-Jack, S., Ryder, K., Katancik, J., Meyers, L., Debon, M., Rosenberg, W., Stender, S., Riely, C., Casson, P., Kristiansen, ...
In order to test VarElects performance against Phenolyzer [23], we generated 34 benchmark queries, composed of a disease causing gene (the probe gene) and its relevant disease/phenotype/symptom terms. Of these, 13 queries were based on in-house exome analyses, 9 were based on exomes analyzed at Toldot (http://www.toldot-dna.com/content/about-us), 12 from published literature, including 4 recorded in MalaCards. In the VarElect runs, each probe gene was accompanied by background genes, some consisting of filtered gene lists from the original experiment, and others including groups of 500 randomly sampled genes from the Illumina TruSight whole exome gene panel (http://www.illumina.com/products/trusight-one-sequencing-panel.html) (see Additional file 2: Table S1 for more details).. For comparison of VarElects against Exomiser [24], 10 real pathological variants from solved in-house exomes were spiked (each one separately) into the demo VCF file that is distributed with Exomiser ("Pfeiffer.vcf", ...
Dr. Walsh says we live in exciting times because researchers are beginning to learn how to favorably influence genes via the study of epigenetics, something Dr. Pfeiffer would have only dreamed of.. Dr. Walsh concludes, after years of investigation, that a gene-altering process called. methylation (explained below) is involved in 70% of serious psychiatric conditions. That means it will soon be possible to molecularly reverse chronic mental problems. As brain science advances, the use of psychiatric drugs will gradually become obsolete since most mental disorders involve disturbances or imbalances of essential nutrients that alter brain function.. Dr. Walsh says, until recently, all heritable mental illnesses were presumed to have an unavoidable genetic component. That is, people have been misled to believe their biological and psychological fate has already been predetermined and is locked in by gene mutations.. Dr. Walsh asks, if these mental disturbances are inevitable, why dont identical ...
37 PATHOGENIC BACTERIA. times contains them, so that the eruption may be regarded as one of the local irritative manifestations of the bacillus. The amount of local disturbance, in proportion to the constitutional disturbance, is, in the majority of cases, slight, and almost always partakes of a necrotic charac- ter, which suggests that in typhoid we have to do with a toxic bacterium whose disease-producing capacity resides in the elaboration of a toxic substance. This, indeed, is true, for Brieger and Frankel have separated from bouillon cultures a toxalbumin which they thought to be the specific poison. Klemperer and Levy also point out further clinical proof in certain exceptional cases dying with the typical picture of typhoid, yet without char- acteristic post-mortem lesions, the only confirmation of the diagnosis being the discovery of the bacilli in the spleen. Pfeiffer and Kolle found that the toxic substance resided only in the bodies of the bacilli, and could not, like the toxins of ...
Applications of condensed matter understanding to medical tissues and disease progression: Elemental analysis and structural integrity of tissue scaffolds ", Bradley DA, Farquharson MJ, Gundogdu O, Al-Ebraheem A, Ismail EC, Kaabar W, Bunk O, Pfeiffer F Falkenberge G Bailey M, International Forum on Future Directions in Atomic and Condensed Matter Research and Applications Parkville, AUSTRALIA, SEP 22-23, 2008 RADIATION PHYSICS AND CHEMISTRY , Conference Information: International Forum on Future Directions in Atomic and Condensed Matter Research and Applications, SEP 22-23, 2008 Parkville, AUSTRALIA, 79, 162-175, (2010 ...
Applications of condensed matter understanding to medical tissues and disease progression: Elemental analysis and structural integrity of tissue scaffolds ", Bradley DA, Farquharson MJ, Gundogdu O, Al-Ebraheem A, Ismail EC, Kaabar W, Bunk O, Pfeiffer F Falkenberge G Bailey M, International Forum on Future Directions in Atomic and Condensed Matter Research and Applications Parkville, AUSTRALIA, SEP 22-23, 2008 RADIATION PHYSICS AND CHEMISTRY , Conference Information: International Forum on Future Directions in Atomic and Condensed Matter Research and Applications, SEP 22-23, 2008 Parkville, AUSTRALIA, 79, 162-175, (2010 ...
MALIGNANT EDEMA. 461 The bacillus of malignant edema stains well with ordi- nary cold aqueous solutions of the anil in dyes, but not by Grams method. The organism is not a difficult one to secure in pure culture, as has been said, generally con- taminating tetanus cultures and being much more easy to se- cure by itself than its congener. It is most easily obtained from the edematous tissues of guinea- pigs arid rabbits inoculated with garden-earth. The colonies which develop upon the surface of gelatin kept free of oxygen appear to the naked eye as small shining bodies with liquid grayish-white contents. They gradually in- crease in circumference, but do not change their appearance. Under the microscope they ap- pear filled with a tangled mass of long filaments wrhich under a FIG. 131. Bacillus of malig- - . .. -,.. .,..., ., nant edema growing in gluco high power exhibit individual gelatin Frankel and Pfeiffer). lucose r). movement. The edges of the colony have a fringed appearance, much like ...
G. Dennler, T. Ameri, P. Denk, H.-J. Egelhaaf, K. Forberich, M. Koppe, M. Morana, M. C. Scharber, C. Waldauf, B. de Boer, K. Emery, G. Rumbles, J. M. Kroon, G. G. Malliaras, M. D. McGehee, J. Nelson, M. Niggemann, M. Pfeiffer, M. K. Riede, S. E. Shaheen, M. Wienk, Materials Today 2007, November, 56 ...
Alcalay, Roy Nissim; Mejia-Santana, Helen; Tang, Ming Xin; Rosado, Llency E.; Verbitsky, Miguel; Kisselev, Sergey; Ross, Barbara M.; Louis, Elan D.; Comella, Cynthia L.; Colcher, Amy; Jennings, Danna; Nance, Martha A.; Bressman, Susan; Scott, William K.; Tanner, Caroline; Mickel, Susan F.; Andrews, Howard F.; Waters, Cheryl H.; Fahn, Stanley; Cote, Lucien J.; Frucht, Steven; Ford, Blair; Rezak, Michael; Novak, Kevin; Friedman, Joseph H.; Pfeiffer, Ronald; Marsh, Laura; Hiner, Bradley; Siderowf, Andrew; Van Vliet, Elise A.; Ottman, Ruth; Clark, Lorraine N.; Marder, ...
According to Vermont bird & butterfly man extraordinaire Bryan Pfeiffer at Wings Environmental thats a male Yehl Skipper he photographed a few years ago. What...
The classical Lagrange-dAlembert principle had a decisive influence on formation of modern analytical mechanics which culminated in modern Hamilton and Poisson mechanics. Being mainly interested in the geometric interpretation of this principle, we devoted our review to its deep relationships to modern Lie-algebraic aspects of the integrability theory of nonlinear heavenly type dynamical systems and its so called Lax-Sato counterpart. We have also analyzed old and recent investigations of the classical M. A. Buhl problem of describing compatible linear vector field equations, its general M.G. Pfeiffer and modern Lax-Sato type special solutions. Especially we analyzed the related Lie-algebraic structures and integrability properties of a very interesting class of nonlinear dynamical systems called the dispersionless heavenly type equations, which were initiated by Plebański and later analyzed in a series of articles. As effective tools the AKS-algebraic and related R -structure schemes are used to
Hellbach, Katharina; Baehr, Andrea; De Marco, Fabio; Willer, Konstantin; Gromann, Lukas B.; Herzen, Julia; Dmochewitz, Michaela; Auweter, Sigrid; Fingerle, Alexander A.; Noël, Peter B.; Rummeny, Ernst J.; Yaroshenko, Andre; Maack, Hanns-Ingo; Pralow, Thomas; van der Heijden, Hendrik; Wieberneit, Nataly; Proksa, Roland; Koehler, Thomas; Rindt, Karsten; Schroeter, Tobias J.; Mohr, Juergen; Bamberg, Fabian; Ertl-Wagner, Birgit; Pfeiffer, Franz; Reiser, Maximilian F.: Depiction of pneumothoraces in a large animal model using x-ray dark-field radiography. Scientific Reports 8 (1), 2018 more… BibTeX Full text ( DOI ) ...
May 4, 2017. Please join us for an informative presentation by Pfeiffer Visiting Scholar Dr. Dora Calott-Wang, MD, MA on Thursday, May 4, 2017, at 5:30 pm in MSOB x303. Dr. Calott-Wang is a psychiatrist and author of "The Kitchen Shrink: A Psychiatrists Reflections on Healing in a Changing World" (Riverhead/Penguin, 2010), a memoir of working as a physician as the medical profession transforms into the health care industry. She is Historian of the School of Medicine and Clinical Associate Professor at the University of New Mexico, and a telepsychiatrist for Butte County, California. The title of Dr. Calott-Wangs presentation is: #Hippocrates: Only Physicians Can Reboot Healthcare, America, and the Economy. For additional information regarding this presentation please contact [email protected] ...
Eric Pfeiffer of Hyde Industrial Blade Solutions weighs in: Poultry has long been one of the least automated food processing sectors. As automation equipment becomes more sophisticated, how will poultry processors see their business practices change?
Picture: Sustech; Eppendorf; Marchesini Group; Emerson ; BASF; Deposit Photos ; BASF started piling of the first plants of its smart Verbund project in Zhanjiang, China. ; BP; Port of Antwerp; Borealis; Heat 11; Getinge; Ika-Werke; Coperion, Stuttgart; Wilden Pump & Engineering Company; Pfeiffer Vacuum; Quattroflow; Edwards Vacuum; Wood ; Arkema; Gea. ...
... acrocephalosyndactylia) that were inherited in an autosomal dominant pattern. In 1996, a baby boy was born to (the artist ... Dominant Hereditary Acrocephalosyndactylia]. Zeitschrift für Kinderheilkunde (in German). 90: 301-20. doi:10.1007/BF00447500. ...
8th cranial nerve lesion Optic nerve compression Mental retardation Syndactyly Acrocephalosyndactylia Mosby's Medical ...
... (or acrocephalosyndactyly) is the common presentation of craniosynostosis and syndactyly.[1] ... Acrocephalosyndactylia at the US National Library of Medicine Medical Subject Headings (MeSH) ... Retrieved from "https://en.wikipedia.org/w/index.php?title=Acrocephalosyndactylia&oldid=827318465" ...
... acrocephalosyndactylia MeSH C05.116.099.370.894.819 --- syndactyly MeSH C05.116.099.370.894.819.100 --- acrocephalosyndactylia ... acrocephalosyndactylia MeSH C05.660.906.819 --- syndactyly MeSH C05.660.906.819.100 --- acrocephalosyndactylia MeSH C05.660. ... acrocephalosyndactylia MeSH C05.660.585.800.756 --- poland syndrome MeSH C05.660.585.984 --- thanatophoric dysplasia MeSH ... acrocephalosyndactylia MeSH C05.660.207.410 --- holoprosencephaly MeSH C05.660.207.525 --- leopard syndrome MeSH C05.660. ...
... acrocephalosyndactylia MeSH C16.131.621.906.819 --- syndactyly MeSH C16.131.621.906.819.100 --- acrocephalosyndactylia MeSH ... acrocephalosyndactylia MeSH C16.131.621.585.800.756 --- poland syndrome MeSH C16.131.621.585.984 --- thanatophoric dysplasia ... acrocephalosyndactylia MeSH C16.131.621.207.410 --- holoprosencephaly MeSH C16.131.621.207.525 --- leopard syndrome MeSH ...
Acrocephalosyndactylia *Apert syndrome. *Carpenter syndrome. *Pfeiffer syndrome. *Saethre-Chotzen syndrome. *Sakati-Nyhan- ...
Acrocephalosyndactylia *Apert syndrome. *Carpenter syndrome. *Pfeiffer syndrome. *Saethre-Chotzen syndrome. *Sakati-Nyhan- ...
Acrocephalosyndactylia. *Acrocyanosis. *Acrodermatitis. *Acrodermatitis chronica atrophicans. *Acrodermatitis enteropathica. * ...
Acrocephalosyndactylia *Apert syndrome. *Carpenter syndrome. *Pfeiffer syndrome. *Saethre-Chotzen syndrome. *Sakati-Nyhan- ...
Acrocephalosyndactylia *Apert syndrome. *Carpenter syndrome. *Pfeiffer syndrome. *Saethre-Chotzen syndrome. *Sakati-Nyhan- ...
Acrocephalosyndactylia *Apert syndrome. *Carpenter syndrome. *Pfeiffer syndrome. *Saethre-Chotzen syndrome. *Sakati-Nyhan- ...
Acrocephalosyndactylia (or acrocephalosyndactyly) is the common presentation of craniosynostosis and syndactyly.[1] ... Acrocephalosyndactylia at the US National Library of Medicine Medical Subject Headings (MeSH) ... Retrieved from "https://en.wikipedia.org/w/index.php?title=Acrocephalosyndactylia&oldid=827318465" ...
acrocephalosyndactylia. proximal symphalangism. *symphalangism, proximal, 1a. - elite association - COSMIC cancer census ...
... acrocephalosyndactylia) that were inherited in an autosomal dominant pattern. In 1996, a baby boy was born to (the artist ... Dominant Hereditary Acrocephalosyndactylia]. Zeitschrift für Kinderheilkunde (in German). 90: 301-20. doi:10.1007/BF00447500. ...
Categories: Acrocephalosyndactylia Image Types: Photo, Illustrations, Video, Color, Black&White, PublicDomain, ...
Acrocephalosyndactylia (Apert Syndrome) 08/01/2010 - "The changes in form characterized in this study will help to elucidate ...
acrocephalosyndactylia 12960. Apert syndrome Cross References. RefSeq. NP_001138391.1, NP_001138388.1, NP_001138385.1, NP_ ...
... that involve multiple sutures are sometimes associated with congenital syndromes such as ACROCEPHALOSYNDACTYLIA; and ...
8th cranial nerve lesion Optic nerve compression Mental retardation Syndactyly Acrocephalosyndactylia Mosbys Medical ...
TY - JOUR. T1 - The pleiotropic effects of fibroblast growth factor receptors in mammalian development. AU - McIntosh, Iain. AU - Bellus, Gary A.. AU - Jabs, Ethylin Wang. PY - 2000/4. Y1 - 2000/4. N2 - In recent years the study of fibroblast growth factor receptors (FGFRs) in normal development and human genetic disorders has increased our understanding of some complex cellular processes. At least fifteen genetic disorders result from mutations within FGFR genes including skeletal dysplasias such as Apert syndrome and achondroplasia. In vitro experiments and the generation of animal models indicate that these mutations result in activation of the receptors and that FGFRs act as negative regulators of bone growth. FGFRs also play a role in wound healing and cancer. In this article, we review the expression of FGFRs in human development, the phenotypes resulting from FGFR mutations, and recent data identifying pathways downstream of the activated receptors.. AB - In recent years the study of ...
Research of Apert Syndrome With Polydactyly Of Hands And Feet has been linked to Acrocephalosyndactylia, Apert Syndrome, Cleft ...
Apert syndrome is named for the French physician who described the syndrome acrocephalosyndactylia in 1906. Apert syndrome is a ... of cases arise by new mutation.The syndrome is named for the French physician who described the syndrome acrocephalosyndactylia ...
... acrocephalosyndactylia MeSH C05.116.099.370.894.819 --- syndactyly MeSH C05.116.099.370.894.819.100 --- acrocephalosyndactylia ... acrocephalosyndactylia MeSH C05.660.906.819 --- syndactyly MeSH C05.660.906.819.100 --- acrocephalosyndactylia MeSH C05.660. ... acrocephalosyndactylia MeSH C05.660.585.800.756 --- poland syndrome MeSH C05.660.585.984 --- thanatophoric dysplasia MeSH ... acrocephalosyndactylia MeSH C05.660.207.410 --- holoprosencephaly MeSH C05.660.207.525 --- leopard syndrome MeSH C05.660. ...
... acrocephalosyndactylia MeSH C16.131.621.906.819 --- syndactyly MeSH C16.131.621.906.819.100 --- acrocephalosyndactylia MeSH ... acrocephalosyndactylia MeSH C16.131.621.585.800.756 --- poland syndrome MeSH C16.131.621.585.984 --- thanatophoric dysplasia ... acrocephalosyndactylia MeSH C16.131.621.207.410 --- holoprosencephaly MeSH C16.131.621.207.525 --- leopard syndrome MeSH ...
Acrocephalosyndactylia - also known as: - Apert Syndrome - Pfeiffer Syndrome - Saethre-Chotzen Syndrome - ...
Powered by Pure, Scopus & Elsevier Fingerprint Engine™ © 2020 Elsevier B.V "We use cookies to help provide and enhance our service and tailor content. By continuing you agree to the use of cookies. Log in to Pure. ...
Rare diseases are life-threatening or chronically debilitating diseases which are of such low prevalence that special combined efforts are needed to address them. A rare disease, also referred to as an orphan disease, is any disease that affects a small percentage of the population.
TY - JOUR. T1 - Alternative methods for nasotracheal intubation and extubation in a patient with Apert syndrome. AU - Tsukamoto, Masanori. AU - Yokoyama, Takeshi. PY - 2015/9/1. Y1 - 2015/9/1. N2 - Apert syndrome is a rare autosomal dominant disorder characterized by craniofacial abnormalities, craniosynostosis and syndactyly. Nasotracheal intubation for a patient with Apert syndrome can be a challenge because of abnormal facial anatomy. We experienced the anesthetic management of a patient with Apert syndrome who underwent partial resection of mandible and cleft palate repair with nasotracheal intubation. Nasotracheal intubation using a gastric tube and extubation using an airway exchange catheter proved useful in this case of airway compromise.. AB - Apert syndrome is a rare autosomal dominant disorder characterized by craniofacial abnormalities, craniosynostosis and syndactyly. Nasotracheal intubation for a patient with Apert syndrome can be a challenge because of abnormal facial anatomy. We ...
Acrocephalosyndactylia. Acrodermatitis. Addison Disease. Adie Syndrome. Alagille Syndrome. Amylose. Amyotrophic Lateral ...
Wang, J., Wong, G. K-S., Ni, P., Han, Y., Huang, X., Zhang, J., Ye, C., Zhang, Y., Hu, J., Zhang, K., Xu, X., Cong, L., Lu, H., Ren, X., Ren, X., He, J., Tao, L., Passey, D. A., Wang, J., Yang, H. & 2 flere, Yu, J. & Li, S., 1. maj 2002, I : Genome Research. 12, 5, s. 824-31 7 s.. Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review ...
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Acrocephalosyndactylia *Apert syndrome. *Carpenter syndrome. *Pfeiffer syndrome. *Saethre-Chotzen syndrome. *Sakati-Nyhan- ...
Acrocephalosyndactylia. *Acrocyanosis. *Acrodermatitis. *Acrodermatitis chronica atrophicans. *Acrodermatitis enteropathica. * ...
Acrocephalosyndactylia *Apert syndrome. *Carpenter syndrome. *Pfeiffer syndrome. *Saethre-Chotzen syndrome. *Sakati-Nyhan- ...
Acrocephalosyndactylia *Apert syndrome. *Carpenter syndrome. *Pfeiffer syndrome. *Saethre-Chotzen syndrome. *Sakati-Nyhan- ...
  • Research of Apert Syndrome With Polydactyly Of Hands And Feet has been linked to Acrocephalosyndactylia, Apert Syndrome, Cleft Palate, Polydactyly. (novusbio.com)
  • It may be associated with other anomalies, like craniofacial anomalies (cleft lip and/or cleft palate, optic atrophy, low set ears, acrocephalosyndactylia and facial bone anomalies), gastrointestinal anomalies, cardiovascular anomalies, skeletal anomalies, genitourinary anomalie. (jpgo.org)