Results 121 to 130 of about 40,082 (242)

The Management of Congenital Cytomegalovirus Infection in an Era of Universal Newborn CMV Screening

Reviews in Medical Virology, Volume 36, Issue 3, May 2026.
ABSTRACT The most common infectious disease responsible for paediatric developmental disability is congenital infection with human cytomegalovirus (cCMV). Many serious sequelae are caused by cCMV, including microcephaly, intracranial calcifications, neuronal migration defects, seizure disorders, developmental delay, and sensorineural hearing loss (SNHL)
Emily R. Harrison, W. Charles Huskins, Mark R. Schleiss   +2 more
wiley   +1 more source

Heredity in Relation to the Eye [PDF]

, 1913
A great and steadily increasing interest in the ocular effects of heredity has arisen in recent years, and much knowledge has been acquired by the collective work of many investigators of this hitherto neglected subject. Of all the patient and productive
Libby, George Franklin
core   +2 more sources

Congenital aniridia: European COST action ANIRIDIA‐NET guidelines for diagnosis, management and care

Acta Ophthalmologica, Volume 104, Issue 3, Page 267-279, May 2026.
Abstract Congenital aniridia is a rare ocular disorder affecting the majority of eye structures and can be associated with systemic manifestations. The main visible phenotypic characteristic is the partial or complete absence of the iris; however, foveal hypoplasia is a more frequent and reliable clinical sign. Other ocular comorbidities are associated
Davide Romano, Vito Romano, Alejandra Daruich, Giulio Ferrari, Matthieu Robert, Francesco Semeraro, Neil Lagali, Dominique Bremond‐Gignac, the ANIRIDIA‐NET Clinical Guidelines Working Group, Miriam Barbany, Claus Cursiefen, Stefano Ferrari, Francisco Figueiredo, Christina Grupcheva, Jesper Hjortdal, Elke Kreps, Erlend Landsend, Laura Mauring, Hilde Pedersen, Nora Szentmáry, Bogumil Wowra, the Aniridia‐Europa and Geniris Working Group, Sophie Valleix, Juan Álvarez de Toledo, James Lauderdale, Tor Paaske Utheim, Paolo Rama   +26 more
wiley   +1 more source

Bleeding Disorders in Children With Genetic Diseases: A Narrative Review

Acta Paediatrica, Volume 115, Issue 5, Page 1015-1024, May 2026.
ABSTRACT Aim The lack of data on bleeding risk assessment in children with genetic diseases is concerning given their increased care needs and risk of haemorrhagic complications compared to the general population. Identification of haemostatic disorders is crucial for implementing preventive measures and mitigating bleeding risk.
Raphaelle Cagol, Mariam Sbeity Barakat, Marjolaine Willems, Tasnime Akbaraly, Biron‐Andreani Christine, Isabelle Diaz, Alexandre Theron   +6 more
wiley   +1 more source

MEDICAL SOCIAL CHARACTERISTICS OF REHABILITATION OPPORTUNITIES IN MODERN SURGERY OF CONGENITAL CATARACT WITH A PRIMARY IOL IMPLANTATION IN CHILDREN OF THE FIRST YEAR OF LIFE

Офтальмохирургия, 2015
Purpose. To study medical social rehabilitation possibilities of the congenital cataract surgery with primary IOL implantation in children of thoracal age.Material and methods.
A. V. Vasiliev, V. V. Egorov, G. P. Smoliakova   +2 more
doaj  

Individuals born with congenital cataracts exhibit both persisting impairment and considerable recovery of white matter microstructure after sight restoration

Aperture Neuro
Individuals born with dense bilateral cataracts, for whom sight was restored later in life (congenital cataract reversal individuals), provide a unique opportunity to explore the impact of early (visual) experience on the development of the human brain.
Jordan D. Hassett, Cordula Hölig, Sunitha Lingareddy, Ramesh Kekunnaya, Brigitte Röder   +4 more
doaj   +1 more source

The Genetic Landscape of Hereditary Spastic Paraplegia in Greece

Clinical Genetics, Volume 109, Issue 5, Page 837-846, May 2026.
We investigated 112 Greek index‐cases with hereditary spastic paraplegia collected over > 25 years using NGS and MLPA. We identified a causative variant in 68 patients (60.7%), including 7 novel causative variants. This study presents a comprehensive overview of the phenotypic and genotypic spectrum of HSP in the Greek population.
Georgios Koutsis, Viorica Chelban, Chrisoula Kartanou, Zoi Kontogeorgiou, Chrysoula Koniari, Nikolaos Ragazos, Charalampos Voudommatis, Kristina Zhelcheska, David S. Lynch, Reza Maroofian, Ehsan Barkhordari, Rahema Mohammad, Ioannis Zaganas, Minas Drakos, Georgia Xiromerisiou, Efthymios Dardiotis, Leonidas Stefanis, Marios Panas, Henry Houlden, Georgia Karadima   +19 more
wiley   +1 more source

216 Jewish Hospital of St. Louis [PDF]

, 1982
https://digitalcommons.wustl.edu/bjc_216/1159/thumbnail ...

core   +1 more source

Retinal Pigment Epitheliopathy due to Sub‐Optimal Recycling of Vitamin A (RESORVA): A Novel RDH11 ‐Related Phenotype

Clinical Genetics, Volume 109, Issue 5, Page 972-977, May 2026.
RDH11 is a minor isoenzyme that catalyses the oxidation of 11‐cis‐retinol to 11‐cis‐retinal in the retinal pigment epithelium, alongside RDH5 and RDH10. Biallelic null variants in RDH11 lead to upregulation of RDH5 and RDH10 (transcriptional adaptation), maintaining 11‐cis‐retinal bioavailability, but still causing Retinal Pigment Epitheliopathy due to
Kirk A. J. Stephenson, Zhuo Shao, Anupreet Tumber, Erika Tavares, Kashif Ahmed, Edward J. Higginbotham, Christian R. Marshall, Jason T. Maynes, Ammaji Rajala, Raju V. S. Rajala, Elise Héon, Ajoy Vincent   +11 more
wiley   +1 more source

The effect of repeated eye examinations and breeding advice on the prevalence and incidence of cataracts and progressive retinal atrophy in German dachshunds over a 13-year period [PDF]

, 2017
Bedford, Bender, Busse, Downs, Falconer, Gelatt, Gresky, Henderson, Mellersh, Mellersh, Mellersh, Mellersh, Mellersh, Miyadera, Miyadera, Muller, Muller, Muller, Muller, Müller, Palanova, Roberts, Ropstad, Ropstad, Stades, Turney, Wiik, Wiik, Zigler, Zigler   +29 more
core   +2 more sources