Results 51 to 60 of about 145,893 (342)
Cartilage-Hair Hypoplasia [PDF]
Mayo Clinic Proceedings, 2007 Cartilage-hair hypoplasia (CHH) is a rare autosomal recessive metaphyseal chondrodysplasia seen primarily in people of Amish and Finnish origin. It is characterized by disproportionately short stature; limb deformities; fine, sparse, light-colored hair; and immunodeficiency. The aberrant gene was recently mapped to chromosome 9p21-p13 (the ribonuclease
Damir, Matesic, John B, Hagan
openaire +2 more sources
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT TSPEAR (chr. 21q22.3) encodes a protein involved in tooth development and is predominantly expressed in the enamel knot. Biallelic loss of function variants in TSPEAR cause ectodermal dysplasia, tooth agenesis and sensorineural hearing loss. However, the role of TSPEAR in auditory processes is unclear.
Debora Vergani +17 more
wiley +1 more source
Journal of Orofacial Sciences, 2020 Maxillary sinus hypoplasia (MSH) is a rare condition characterized by underdevelopment or decrease in the volume of the maxillary sinus. It is thought that MSH may be embryological in origin but acquired etiologies have also been discussed in the ...
Mohammed Bindakhil, Mel Mupparapu
doaj +1 more source
Anthropological Review, 2017 Syphilis in the United States during the 1800s and 1900s had a high prevalence rate causing great concern to health officials. Various measures were taken to control its spread. Mercuric treatments were used up until the introduction of penicillin.
Ioannou Stella, Henneberg Maciej
doaj +1 more source
Restenosis Rate and Reinterventions after Aortic Arch Repair in Infants
Український журнал серцево-судинної хірургії, 2022 The aim. This study aims to determine the reintervention rate in infantsundergoing aortic arch repair and to analyze risk factors and evaluate the results of reinterventions. Materials and methods.
Iaroslav P. Truba +2 more
doaj +1 more source
Clinical case seminar - Hypogonadotropic hypogonadism as a presenting feature of late-onset X-linked adrenal hypoplasia congenita [PDF]
, 2002 Mutations in the orphan nuclear receptor DAX-1 cause X-linked adrenal hypoplasia congenita. Affected boys usually present with primary adrenal failure in early infancy or childhood.
Achermann, JC +8 more
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Novas perspectivas no diagnóstico do hipogonadismo pediátrico masculino: a importância do AMH como marcador de células de Sertoli [PDF]
, 2011 Sertoli cells are the most active cell population in the testis during infancy and childhood. In these periods of life, hypogonadism can only be evidenced without stimulation tests, if Sertoli cell function is assessed.
Grinspon, Romina, Rey, Rodolfo Alberto
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The Diagnosis That Arrived Decades Late: Living Without and Then With Myhre Syndrome
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Myhre syndrome (MIM #139210) is a rare multisystem disorder first described in 1981, characterized by short stature, neurodevelopmental delay, joint contractures, and cardiopulmonary complications. Its molecular basis, recurrent pathogenic variants in SMAD4, was not discovered until 2011. This narrative is based on a review of medical records,
Abdallah F. Elias
wiley +1 more source
National Journal of Clinical AnatomyIntroduction: Circulus arteriosus cerebri, commonly referred as the circle of Willis, is a pivotal arterial anastomotic network located within the interpeduncular cistern at the base of the brain that ensures collateral blood flow to the entire brain ...
Siddhartha Roy +3 more
doaj +1 more source
Evaluating Outer Segment Length as A Surrogate Measure of Peak Foveal Cone Density [PDF]
, 2017 Adaptive optics (AO) imaging tools enable direct visualization of the cone photoreceptor mosaic, which facilitates quantitative measurements such as cone density. However, in many individuals, low image quality or excessive eye movements precludes making
Carroll, Joseph +4 more
core +2 more sources