Results 61 to 70 of about 18,345 (192)

Deep Phenotyping in ReNU Syndrome Identifies a Recognizable Age‐Dependent Clinical Trajectory

Clinical Genetics, EarlyView.
Longitudinal evaluation of 11 individuals with ReNU syndrome revealed an age‐dependent multisystem trajectory. This longitudinal description may help clinicians anticipate changing needs in feeding, growth, neurological, visual, communication, behavioral, and orthopedic care. ABSTRACT Pathogenic variants in the noncoding gene RNU4‐2 cause ReNU syndrome,
Nadja Pekkola Pacheco, Malin Kvarnung, Anna Hammarsjö, Daniel Nilsson, Bianca Tesi, Britt Marie Anderlid, Giedre Grigelioniene, Maria Johansson Soller, Liselot van der Laan, Charlotte Willfors, Charlotta Ingvoldstad Malmgren, Anna Lindstrand, Tommy Stödberg, Ann Nordgren, Angelica Maria Delgado‐Vega   +14 more
wiley   +1 more source

A 3D atlas of the trigeminal nerve and its relevance for comparative studies of the masticatory apparatus in rodents

Journal of Anatomy, EarlyView.
The trigeminal nerve of the rat (Rattus norvegicus) and its relationship with different masticatory muscles. dig, digastric nerve; ep, external pterygoid nerve; ip, internal pterygoid nerve; maadm, branch of the masseteric nerve for the anterior deep masseter; mapdm, branches of the masseteric nerve for the posterior deep masseter; masm, branch of the ...
Lionel Hautier, Marcos Angelo Alves, Léa Da Cunha, Benoit Moison, Ludovic Besson, Pierre‐Henri Fabre   +5 more
wiley   +1 more source

Patent foramen ovale

Zdravniški Vestnik, 2006
Background: Stroke is the third cause of mortality and leading cause of disability regarding the World Health Organization data. Cryptogenic stroke encompasses 40% of young adults with ischemic stroke.
Marjan Zaletel, Mirta Koželj, Tomaž Podnar, Polona Peternel   +3 more
doaj  

Gas exchange and pulmonary stress variations during SCUBA and breath‐hold diving in open seawater

The Journal of Physiology, EarlyView.
Abstract figure legend Healthy, trained divers were studied before, during and after diving in open seawater with different techniques. SCUBA divers (diving to 15 or 40 m with air; cycling at depth) and breath‐hold divers (BHDs; sled‐assisted dives to 15, 25 or 40 m) underwent underwater and surface arterial blood gas (ABG) sampling.
Matteo Paganini, Tommaso Antonio Giacon, Simona Mrakic‐Sposta, Luca Martani, Danilo Cialoni, Lorenzo Zucchi, Vincenzo Maffei, Rosario Cifali, Mariano Marmo, Enrico M Camporesi, Richard E Moon, Gerardo Bosco   +11 more
wiley   +1 more source

Platypnea-orthodeoxia syndrome treated by percutaneous patent foramen ovale closure: a case report and review of the literature

Journal of Medical Case Reports
Background Platypnea-orthodeoxia syndrome is a rare but striking clinical syndrome, usually characterized by dyspnea and hypoxemia in the upright position, which is relieved by recumbency. However, the exact prevalence remains unknown.
Ziyang Hu, Zhiyong Huang, Yongxin Huang, Guoqiang Huang, Xueshan Li, Kaixuan Lin, Caojin Zhang   +6 more
doaj   +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, Volume 200, Issue 10, Page 2396-2404, October 2026.
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

Intermediate‐Phenotype ABCA3 Deficiency Caused by Compound Heterozygous Variants Presenting as Persistent Respiratory Failure and Systemic Hypertension Since Birth in a Term Infant: A Case Report

Clinical Case Reports, Volume 14, Issue 10, October 2026.
ABSTRACT ABCA3 deficiency should be suspected in term infants with persistent respiratory distress from birth. This case highlights how early whole‐exome sequencing established the diagnosis after extensive investigations, identified an intermediate phenotype caused by compound heterozygous variants, and guided targeted multidisciplinary management.
Ammir Abuzahra, Mohamad Abu Mayalah, Mahmoud Abdelrazzaq Abu Mayaleh, Amani Daabes, Rafad Y. Dweik, Abdelrazzaq Abu Mayaleh   +5 more
wiley   +1 more source

Cryptogenic stroke and patent foramen ovale (abridged and translated version)

Neurological Research and Practice, 2019
Interventional patent foramen ovale (PFO) closure should be performed in patients aged 16 to 60 years (after extensive neurological and cardiological diagnostic work-up) with a history of cryptogenic ischaemic stroke and patent foramen ovale, with ...
Hans-Christoph Diener, Armin Grau, Stephan Baldus   +2 more
doaj   +1 more source

Culture‐Negative Infective Endocarditis Presumed due to Brucella Causing Rapid Native Aortic Valve Destruction in a Young Adult: A Case Report

Clinical Case Reports, Volume 14, Issue 10, October 2026.
ABSTRACT Culture‐negative endocarditis with features consistent with Brucella can rapidly destroy a normal aortic valve in young adults. 2023 Duke‐ISCVID criteria (clinical/imaging findings plus histopathology), supported by serology and occupational exposure enabled urgent combined antimicrobial‐surgical management without culture confirmation ...
Baraa Nassar, Kristen I. Gharo, Olga Ramahi, Hussein Ghannam, Ahmed Romana, Kinda Abu Hashhash   +5 more
wiley   +1 more source

PATENT FORAMEN OVALE AND DIVING

Bezmialem Science, 2018
Although patent foramen ovale (PFO) was anatomically depicted in 1513 by Leonardo da Vinci and described as a thromboembolism route in 1877, it has been ignored for a long time as a potential way to produce pathological conditions. The unifying hypothesis associated with multiple clinical issues, such as cryptogenic stroke, migraine and decompression ...
openaire   +3 more sources