Results 51 to 60 of about 17,584 (185)

Genetic Spectrum of Non‐PTPN11 Variants in Noonan Syndrome and Related RASopathies: Findings From a Russian Cohort

Clinical Genetics, EarlyView.
Noonan syndrome and related conditions are caused by variants in multiple genes. We analyzed 456 Russian patients using a 23‐gene panel and found disease‐causing variants in non‐PTPN11 genes in 85 cases. NF1, SOS1, BRAF, and SHOC2 explained half of these diagnoses.
Anna Orlova, Olga Shatokhina, Daria Guseva, Nina Demina, Aleksander Polyakov, Oхana Ryzkova   +5 more
wiley   +1 more source

Virtual brain endocasts of the palaeanodont Metacheiromys marshi and the neurosensory evolution of early Pholidotamorpha

Journal of Anatomy, EarlyView.
We describe the endocranial anatomy of Metacheiromys marshi. Decrease in olfaction and eye movement control occurred through time in Pholidotamorpha and is likely linked to fossorial adaptations. The development of the orbital gyrus might be related to the evolution of myrmecophagy and the emergence of a protrusile tongue in early Pholidotamorpha ...
Eduard Cabasés Bru, Raquel Moya‐Costa, John R. Wible, Stephen L. Brusatte, Ornella C. Bertrand   +4 more
wiley   +1 more source

Patent foramen ovale and migraine in ischemic stroke patients: incidence, pathogenetic interrelation and the effects of endovascular closure [PDF]

Клиническая практика
BACKGROUND: Migraine is a chronic neurovascular disease with high incidence rate and medical-social significance. Despite more than half a century of studying the disease, the pathogenesis of migraine is not yet completely clear.
Anastasia V. Belopasova, Andrey O. Chechetkin, Viktor D. Merezhko   +2 more
doaj   +1 more source

Young stroke patient with patent foramen ovale and intracranial stenosis—a case report

SAGE Open Medical Case Reports, 2023
The prevalence of patent foramen ovale is approximately 20% in the global population. In patients under the age of 55 years, it has been proven as a cause of acute ischemic embolic stroke of otherwise undetermined source.
Domagoj Šunde, Josip Ljevak, David Ozretić, Ivan Perić, Nikola Blažević, Zdravka Poljakovic   +5 more
doaj   +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

Body position and oxygenation: An intriguing relationship

Revista Portuguesa de Cardiologia, 2014
Dyspnea and hypoxemia are among the most common symptoms and signs that need to be assessed in clinical practice.This case illustrates how simple steps in history taking and physical examination can be crucial for diagnosis.We present a patient with ...
Patrícia Rodrigues, Marta Monteiro, Paulo Palma, Luís Sousa-Pereira, Sofia Cabral, Filomena Oliveira, Vasco Dias, Severo Torres   +7 more
doaj   +1 more source

Bilateral thalamic stroke in patient with patent foramen ovale and hereditary thrombophilia [PDF]

Терапевтический архив, 2018
Patent foramen ovale and hereditary thrombophilia are both known risk factors for ischemic stroke. Artery of Percheron is a rare anatomical variant in which vast areas of the midbrain and thalamus have a single source of blood supply.
M Yu Brovko, L A Akulkina, V I Sholomova, A Sh Yanakayeva, L A Strizhakov, M V Lebedeva, V V Zakharov, A V Volkov, A V Lazareva, M A Kinkul’kina, N N Ivanets, V V Fomin   +11 more
doaj   +1 more source

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

35 Individuals With HUWE1‐Related Neurodevelopmental Disorder and Suggested Clinical Evaluations

American Journal of Medical Genetics Part A, Volume 200, Issue 9, Page 2010-2018, September 2026.
ABSTRACT HUWE1 (HECT, UBA, and WWE Domain Containing E3 Ubiquitin Protein Ligase1, OMIM 300697), located at Xp11.22, encodes a ubiquitin ligase that is highly conserved across species. Genetic variants in HUWE1 described in multiple independent studies cause X‐linked intellectual disability, including in the patients identified by Juberg, Marsidi, and ...
Mindy H. Li, Deziree L. Coleman, Kelsey Hogan, Danielle Luz, Lindsay Bhandari, Newell Belnap, Tiffany Busa, Charles Coutton, Klaus Dieterich, Svetlana Gorokhova, Clara Hildebrandt, Rachel Logan, Milena Mariani, Manuela Morleo, Vincenzo Nigro, John Pappas, Rachel Rabin, Kelly Schoch, Angelo Selicorni, Vandana Shashi, Rebecca Spillmann, Jennifer Sullivan, Charlotte Tardy, Samantha A. Schrier Vergano, Brock Grill, Kristin Baranano   +25 more
wiley   +1 more source

Co‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects

American Journal of Medical Genetics Part A, Volume 200, Issue 9, Page 1953-1972, September 2026.
ABSTRACT Cases with congenital heart defects (CHD) often have other associated anomalies. The aim of this investigation was to assess the prevalence and the types of co‐occurring anomalies in CHD in a well‐defined population. The anomalies co‐occurring with CHD were ascertained in all live births, stillbirths and terminations of pregnancy for fetal ...
Claude Stoll, Yves Alembik, Marie‐Paule Roth   +2 more
wiley   +1 more source