Results 121 to 130 of about 129,951 (312)

A Pilot Study to Evaluate Neurodevelopmental Outcomes in a Pediatric Cohort With Genodermatoses

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Our study aimed to evaluate cognitive function in individuals with genetic skin disorders involving neuroectoderm (n = 8) compared to individuals with only ectoderm or mesoderm (n = 16) involvement. We hypothesized that neuroectodermal involvement would result in poorer neurocognitive performance.
Sneha A. Rangu   +10 more
wiley   +1 more source

Phenotypic Expansion of Knobloch Syndrome Type 2 in an Individual With a De Novo PAK2 Variant

open access: yesAmerican Journal of Medical Genetics Part A, Volume 197, Issue 6, June 2025.
ABSTRACT P21‐activated kinase 2 (PAK2) is a serine/threonine kinase essential for a variety of cellular processes including signal transduction, cellular survival, proliferation, and migration. A recent report proposed monoallelic PAK2 variants cause Knobloch syndrome type 2 (KNO2)—a developmental disorder primarily characterized by ocular anomalies ...
Elizabeth A. Werren   +10 more
wiley   +1 more source

Evaluation of the Effect of Respiratory Relaxation on the Severity of Pain Resulting from the Removal of the Chest Tube After CABG

open access: yesمراقبت پرستاری و مامایی ابن سینا, 2019
Introduction: Patients admitted to the intensive care unit express the chest tube removal as one of their worst experiences. In spite of scientific advances, no effective action is taken to reduce the pain due to it.
Mitra Ayyasi   +3 more
doaj  

Assessment of scattered and leakage radiation from ultra-portable digital chest X-ray systems: An independent study [PDF]

open access: yesarXiv
Ultraportable X-ray devices are ideal for TB screening in resource-limited settings. Unfortunately, guidelines on the radiation safety of these devices are lacking. The aim of the study was to determine the radiation dose by scattered and leakage radiation of ultraportable X-ray devices to provide a basis for these guidelines.
arxiv  

MTSS2 ‐Related Disorder: Refining the Phenotype in Four New Cases and Literature Review

open access: yesAmerican Journal of Medical Genetics Part A, Volume 197, Issue 6, June 2025.
ABSTRACT MTSS2 encodes a protein highly expressed in the central nervous system, with a crucial role in neurodevelopment. The de novo recurrent variant c.2011C>T (p.Arg671Trp) was first identified in 2022 as cause of Intellectual Developmental Disorder with ocular anomalies and distinctive facial features (OMIM#620086).
Angela De Dominicis   +12 more
wiley   +1 more source

A chest tube after robotic thymectomy is unnecessary. [PDF]

open access: yesJTCVS Open, 2023
McCormack AJ   +3 more
europepmc   +1 more source

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