Results 51 to 60 of about 386 (255)

Inflammation Unchecked: Concurrent Kawasaki Disease and Stevens‐Johnson Syndrome in an 18‐Month‐Old Child

open access: yes
Arthritis Care &Research, EarlyView.
Catherine Deffendall   +6 more
wiley   +1 more source

POEMS Syndrome: 2026 Update on Diagnosis, Risk‐Stratification, and Management

open access: yesAmerican Journal of Hematology, EarlyView.
ABSTRACT Disease Overview POEMS syndrome is a life‐threatening syndrome due to an underlying plasma cell neoplasm. The major criteria for the syndrome are polyneuropathy, clonal plasma cell disorder (PCD), sclerotic bone lesions, elevated vascular endothelial growth factor, and the presence of Castleman disease.
Angela Dispenzieri
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)

open access: yesRevista 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

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

open access: yesAmerican 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

An Adult Presentation of KIF11‐Related MCLID Syndrome: Case Report and 40‐Year Follow‐Up

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in KIF11 are linked to autosomal dominant syndromes with microcephaly, chorioretinopathy, lymphedema, and intellectual disability (MCLID), though adult presentations remain underreported. We report a 42‐year‐old female presenting with a de novo single‐amino acid in‐frame deletion in the KIF11 gene (c.1294_1296del; p ...
Thrishna Chathurvedula   +8 more
wiley   +1 more source

A rhesus macaque model of α‐dystroglycanopathy caused by a POMT1 splice altering variant

open access: yesAnimal Models and Experimental Medicine, EarlyView.
Rhesus macaques homozygous for a naturally occurring spice altering variant in the POMT1 gene develop lissencephaly, microphthalmia, and muscular contracture. The presentation models severe presentation of the human Walker‐Warburg syndrome. Abstract Background Biallelic mutations in genes associated with α‐dystroglycan glycosylation manifest in a ...
Anya Nordlund   +7 more
wiley   +1 more source

Traumatismos oculares en el deporte

open access: yesApunts: Educación Física y Deportes, 2007
Los traumatismos oculares durante la práctica deportiva son relativamente frecuentes, pueden acontecer en el contexto de cualquier deporte y son muy variados, tanto en su origen, gravedad y forma de presentación clínica (traumatismos incisos, contusos o ...
Javier Elizalde
doaj  

Spatial Cell Death and Oxidative Stress Dynamics in Gas Plasma‐Treated Tumor Tissues

open access: yesAdvanced NanoBiomed Research, EarlyView.
Schematic representation of the four experimental models to study tissue penetration and oxidation. Four tissue models were used. Human pancreatic cancer cells were grown on the chorioallantois membrane of chicken embryos and gas plasma‐treated in ovo, murine colorectal tumor tissue was gas plasma‐exposed ex vivo, murine squamous cell carcinoma cells ...
Anke Schmidt   +4 more
wiley   +1 more source

Severe ocular trauma. A four years retrospective study

open access: yesActa 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   +3 more
doaj  

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