Results 61 to 70 of about 18,927 (298)

Incidencia de afecciones oftalmológicas en la isla de Fogo, Cabo Verde. 2015-2017

Medisur, 2019
Fundamento: existe un alza de enfermedades oculares y personas con discapacidades visuales. Objetivo: describir la incidencia de afecciones oftalmológicas.
Armando Rafael Milanés Armengol, Katia Molina Castellanos, Isabel Adir Alves Tavares, Marla Milanés Molina, Ángel Miguel Ojeda Leal   +4 more
doaj   +2 more sources

Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet, Sylvie A. Adams, Zoe S. Katz, Christal G. Delagrammatikas, Kosuke Izumi, Winifred Sigal, Kim Ventarola, Elaine H. Zackai, Julia E. Reid, Grant T. Liu, Jennifer M. Kalish   +10 more
wiley   +1 more source

Desenlaces del trauma ocular como factores pronósticos de la agudeza visual según las escalas birmingham eye trauma terminology (bett) y ocular trauma score (ots)

Revista GICOS
Las complicaciones o desenlaces que se presentan después de un trauma ocular se reconocen como los principales factores predictivos o pronósticos del grado de agudeza visual post trauma ocular.
Ámbar Rivas, Pedro Rivas-Agüiño
doaj   +1 more source

Clinical, Behavioral and Neuroradiological Phenotype in an Italian Cohort of Patients With Xia Gibbs Syndrome: A Multicenter Cross‐Sectional Study and Systematic Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous variants in the AHDC1 gene are associated with Xia Gibbs Syndrome (XGS), a genetic disorder with a highly variable phenotype. Cognitive impairment, motor delay, language delay, neonatal hypotonia, and sleep apnea are considered “cardinal” signs of the disease.
Giulia Cinelli, Stefania Della Vecchia, Patrizia Bergonzini, Elisa Caramaschi, Elisabetta Spezia, Claudia Parenti, Simona Filomena Madeo, Laura Lucaccioni, Cavalleri Francesca, Marisa Pugliese, Federico Raviglione, Clara Colonna, Olga Calabrese, Ilaria Stanghellini, Maria Carmen Marongiu, Enrico Biagioni, Anna Rita Ferrari, Roberta Battini, Lorenzo Iughetti   +18 more
wiley   +1 more source

[Associated factors and types of eye injuries occurring in dentistry practice: systematic review]. [PDF]

Rev Cient Odontol (Lima), 2023
Jordi AS, Chávez Méndez MA.
europepmc   +1 more source

Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
wiley   +1 more source

Disease Remission: A Scoping Review With Thematic Analysis of the Scientific Literature With Implications for Chronic Rhinosinusitis

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Remission, a term used to describe a goal of treatment for some chronic diseases, has recently been proposed for chronic rhinosinusitis (CRS). However, it is unclear what remission means for CRS and why it should serve as a goal in the present‐day treatment of CRS.
Nikhil Parail, Lynn Warner, Stacey T. Gray, Claire Hopkins, Peter H. Hwang, Sarah K. Wise, Katie M. Phillips, Ahmad R. Sedaghat   +7 more
wiley   +1 more source

Infecciones y trauma ocular [PDF]

, 2006
Se describe una serie de infecciones y traumatismos ...
Bogo, Renzo, Curutchet, Laura, Galán, Marta, Murria, Néstor, Schbib, Vanina   +4 more
core  

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

Severe ocular trauma. A four years retrospective study

Acta Médica del Centro, 2020
Introduction: eye trauma represents a challenge for doctors and is an important reason for hospitalization. Objective: to know the epidemiological clinical behavior of serious eye trauma.
Adonis Márquez Falcón, Lidaisy Cabanes Goy, José Guillermo Martínez Urbay, Javier Sing Yu   +3 more
doaj