Results 81 to 90 of about 2,629 (212)

Smartphone-based, rapid, wide-field fundus photography for diagnosis of pediatric retinal diseases [PDF]

open access: yes, 2019
PurposeAn important, unmet clinical need is for cost-effective, reliable, easy-to-use, and portable retinal photography to evaluate preventable causes of vision loss in children.
Besirli, Cagri G.   +10 more
core   +2 more sources

The Neonate with Minor Dysmorphisms [PDF]

open access: yes, 2017
Congenital anomalies are present in at least 10% of all neonatal intensive care unit admissions, of whom many have an underlying genetic condition. About 50–60% of human congenital anomalies are of unknown etiology, and approximately one- third are ...
Berceanu, Costin   +4 more
core   +2 more sources

Acute Effects on the Human Peripheral Blood Transcriptome of Decompression Sickness Secondary to Scuba Diving

open access: yesFrontiers in Physiology, 2021
Decompression sickness (DCS) develops due to inert gas bubble formation in bodily tissues and in the circulation, leading to a wide range of potentially serious clinical manifestations. Its pathophysiology remains incompletely understood.
Kurt Magri   +7 more
doaj   +1 more source

Molecular spectrum of TSHβ subunit gene defects in central hypothyroidism in the UK and Ireland. [PDF]

open access: yes, 2016
OBJECTIVE: Homozygous mutations in the TSH beta subunit gene (TSHB) result in severe, isolated, central congenital hypothyroidism (CCH). This entity evades diagnosis in TSH-based congenital hypothyroidism (CH) screening programmes in the UK and Ireland ...
Bernhard, B   +10 more
core   +2 more sources

Short Stature in Moyamoya Disease: A Systematic Review of Potential Mechanisms and Clinical Outcomes

open access: yesStroke Research and Treatment, Volume 2025, Issue 1, 2025.
Background: Moyamoya disease (MMD) is a complex cerebrovascular disorder. While its neurological manifestations are well documented, the association between MMD and short stature remains underrecognized. This review explores potential mechanisms linking MMD with growth impairment, with a focus on endocrine and syndromic contributors.
Abdallah M. Mujbel   +4 more
wiley   +1 more source

Itchy Erythematous Plaques after Scuba Diving: A Quiz

open access: yesActa Dermato-Venereologica, 2020
is missing (Quiz)
Emilie Schwob   +3 more
doaj   +1 more source

High-definition abdominal liposuction with silicone tubing [PDF]

open access: yesRevista Brasileira de Cirurgia Plástica, 2018
Introduction: Recently, some authors have described high definition liposuction in the abdominal region, achieved by the vigorous marking of the grooves of the linea alba, linea semilunaris, and transverse tendinous intersections within the rectus ...
Rogerio Schützler Gomes   +5 more
doaj   +1 more source

Megalencephaly due to impaired cerebral venous return in a Sturge-Weber variant syndrome. [PDF]

open access: yes, 1986
An infant with a Sturge-Weber variant syndrome developed progressive megalencephaly and eventual hydrocephalus, which required shunting. Cerebral angiography revealed absence of the deep cerebral venous system and the development of abnormal drainage ...
Baram, TZ, Fishman, MA
core  

Comprehensive Assessment of Dermatologic and Dysmorphic Manifestations in Patients With Down Syndrome

open access: yesSkin Research and Technology, Volume 30, Issue 10, October 2024.
ABSTRACT Background Down syndrome (DS), a common chromosomal anomaly caused by trisomy of chromosome 21, is characterized by a broad spectrum of phenotypic characteristics across multiple organ systems, including cardiac defects and leukemia. Dermatological findings are prevalent among individuals with DS; however, these issues are frequently ...
Gökhan Kaya, Ceren Alavanda
wiley   +1 more source

Hipotiroidismo congénito: Evaluación del programa de screening neonatal [PDF]

open access: yes, 2016
En los últimos 25 años del siglo XX, los avances tecnológicos permitieron cambiar de forma drástica -en los países industrializados-, el momento diagnóstico, el comienzo del tratamiento substitutivo y el pronóstico intelectual de los hipotiroideos ...
Cañas Perea, Francisco Javier
core  

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