Results 71 to 80 of about 104,577 (302)

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young, Armelle Pindon, Maggie R. Brand, Kate Wears, Katherine H. Young, Alyssa Mendel, Michael J. Lyons   +6 more
wiley   +1 more source

A medieval fallacy: the crystalline lens in the center of the eye. [PDF]

, 2016
ObjectiveTo determine whether, as most modern historians have written, ancient Greco-Roman authors believed the crystalline lens is positioned in the center of the eye.BackgroundHistorians have written that statements about cataract couching by Celsus ...
Hadi, Tamer M, Leffler, Christopher T, Schwartz, Daniel, Schwartz, Stephen G, Udupa, Akrithi   +4 more
core   +1 more source

Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF‐β Signaling via Gain‐of‐Function Variants in SMAD4

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena, Alessandro De Falco, Deborah Osio, Eleanor Sherlock, Emma Kivuva, Erina Sasaki, Francis H. Sansbury, Nayana Lahiri, Patricia Foley, Sahar Mansour, Shane McKee, Tazeen Ashraf, Nicola Brunetti‐Pierri, Usha Kini   +13 more
wiley   +1 more source

A novel dominant mutation in CRYAB gene leading to a severe phenotype with childhood onset

Molecular Genetics & Genomic Medicine, 2020
Background αB‐crystallin is a promiscuous protein involved in numerous cell functions. Mutations in CRYAB have been found in patients with different pathological phenotypes that are not properly understood.
Ana T. Marcos, Diego Amorós, Beatriz Muñoz-Cabello, Francisco Galán, Eloy Rivas Infante, Luis Alcaraz‐Mas, José M. Navarro‐Pando   +6 more
doaj   +1 more source

Co‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cases with congenital heart defects (CHD) often have other associated anomalies. The aim of this investigation was to assess the prevalence and the types of co‐occurring anomalies in CHD in a well‐defined population. The anomalies co‐occurring with CHD were ascertained in all live births, stillbirths and terminations of pregnancy for fetal ...
Claude Stoll, Yves Alembik, Marie‐Paule Roth   +2 more
wiley   +1 more source

Prevalence of disorders recorded in Cavalier King Charles Spaniels attending primary-care veterinary practices in England [PDF]

, 2015
Concerns have been raised over breed-related health issues in purebred dogs, but reliable prevalence estimates for disorders within specific breeds are sparse.
Brodbelt, D C, Church, D B, McGreevy, P D, O'Neill, D G, Summers, J F, Thomson, P C   +5 more
core   +3 more sources

Tree shrew model of early diabetic retinopathy reveals microvascular dysfunction and identifies phosphoserine aminotransferase 1 as a novel therapeutic target

Animal Models and Experimental Medicine, EarlyView.
We developed an animal model of early diabetic retinopathy (DR) in the tree shrew by feeding a high‐fat and high‐sugar diet in combination with STZ. Physiological and biochemical index detection, hematoxylin and eosin staining, and transmission electron microscopy were performed to examine DR.
Min Qiu, Shurui Huo, Wenguang Wang, Na Li, Qingwei Zeng, Xiaomei Sun, Jiejie Dai, Pinfen Tong, Yuanyuan Han, Ling Zhao, Caixia Lu   +10 more
wiley   +1 more source

Prevalence and associated factors of visual impairment in two rural communities in Ghana

African Vision and Eye Health
Background: Limited information on the burden of visual impairment (VI) impedes decision-making in terms of eye health provision. Aim: This study assessed the prevalence, causes and associated factors of VI in rural communities in Ghana.
Bright V. Okyere, Minette Devenier, Tuwani Rasengane, Samuel Kyei, Benedict Ayobi   +4 more
doaj   +1 more source

Current Trends in the Pharmacotherapy of Cataracts

Pharmaceuticals, 2020
Cataracts, one of the leading causes of preventable blindness worldwide, refers to lens degradation that is characterized by clouding, with consequent blurry vision.
Segewkal H. Heruye, Leonce N. Maffofou Nkenyi, Neetu U. Singh, Dariush Yalzadeh, Kalu K. Ngele, Ya-Fatou Njie-Mbye, Sunny E. Ohia, Catherine A. Opere   +7 more
doaj   +1 more source

An epidemiological assessment of lens opacifications that impaired vision in patients injected with radium-224 [PDF]

, 1988
The incidence of lens opacifications that impaired vision (cataract) was analyzed among 831 patients who were injected with known dosages of 224Ra in Germany shortly after World War II.
Chmelevsky, D., Kellerer, Albrecht M., Mays, C. W., Spiess, H., Stefani, F.-H.   +4 more
core   +1 more source