Results 201 to 210 of about 198,923 (305)

How Far Can we Go? Managing Moyamoya Syndrome in a 3‐Year‐Old With Thalassemia Major: A Rare Pediatric Case From Nepal

open access: yesClinical Case Reports, Volume 14, Issue 3, March 2026.
ABSTRACT Moyamoya syndrome (MMS) is a rare progressive cerebrovascular disorder causing stenosis of intracranial arteries and collateral vessel formation. Pediatric presentations often include ischemic strokes, and coexisting Thalassemia Major may worsen vascular outcomes.
Kshitiz Parajuli   +8 more
wiley   +1 more source

Prenatal Diagnosis of Renal Anomalies Associated With a Novel Causative Variant in RAP1B Gene

open access: yesClinical Case Reports, Volume 14, Issue 3, March 2026.
A case of prenatal renal cystic disease and unilateral renal agenesis is reported. Molecular investigations including TRIO next‐generation sequencing analysis using the Clinical exome sequencing protocol identified the c.179G>T, p.(Gly60Val) “de novo” variant in a heterozygous state in the RAP1B gene.
Adalgisa Cordisco   +5 more
wiley   +1 more source

Pathogenesis and potential therapeutic targets of trichorhinophalangeal syndrome; lessons obtained from animal studies

open access: yesDevelopmental Dynamics, Volume 255, Issue 3, Page 228-245, March 2026.
Abstract Trichorhinophalangeal syndrome (TRPS) is a rare genetic disease inherited in an autosomal dominant manner. It occurs in 1 in 100,000 people globally and is caused by several types of mutations of the TRPS1 gene. Since the first human patient was reported in 1966, typical and atypical pathologies, disease courses, and treatment case ...
Naoya Saeki   +6 more
wiley   +1 more source

Application of RMR89–NATM Rock Mass Classification for Tunnel Design: A Case Study From Bilaspur, Himachal Pradesh, India

open access: yesEngineering Reports, Volume 8, Issue 3, March 2026.
The Bilaspur region lies in a highly seismic zone, requiring special attention for infrastructure development like tunnel construction. Rock strength in the area is low, posing challenges for stable tunnel design. RMR values range from 21 to 30, categorizing the rock mass as Poor, requiring robust support measures.
Baalamurugan Arumugam   +4 more
wiley   +1 more source

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