Results 31 to 40 of about 64,130 (263)

Analysis of new calculated echocardiographic indicators on a clinical example of a typical patient with pulmonary embolism of moderate-high risk of early death

Вестник медицинского института «Реавиз»: Реабилитация, врач и здоровье, 2022
The article presents an analysis of the developed calculated echocardiographic indicators: the final diastolic pressure in the pulmonary artery, the pressure gradient on the pulmonary artery valve, the volume of tricuspid regurgitation, as well as the ...
A. G. Pronin, N. Y. Sivokhina, L. G. Zhirova, A. R. Rakhmatullina   +3 more
doaj   +1 more source

Clinical utility of pharyngeal high‐resolution manometry with impedance for upper esophageal sphincter dysfunction in gastroenterology

Advances in Digestive Medicine, EarlyView.
Abstract Pharyngeal high‐resolution manometry with impedance (P‐HRM‐I) is an established assessment method used to evaluate pharyngeal swallowing. It provides precise quantification of swallowing biomechanics that enable the detection of alterations in swallowing physiology.
Mistyka Schar, Taher Omari, Michal Szczesniak, Chien‐Lin Chen, Richard Heddle, Charles Cock   +5 more
wiley   +1 more source

Non‐RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim, Alexsandra Christianne Malaquias, Debora Romeo Bertola, Raissa Carneiro Rezende, Laurana De Polli Cellin, Lucas Vieira Lacerda Pires, Ana Maria Santillan‐Vasconez, Antônio Marcondes Lerario, Renata da Cunha Scalco, Alexander Augusto de Lima Jorge   +9 more
wiley   +1 more source

Isolated infundibular pulmonary stenosis

Journal of Clinical and Preventive Cardiology, 2018
A case of isolated infundibular pulmonary stenosis is reported and literature is reviewed. Infundibular pulmonary stenosis is usually a part of tetralogy of Fallot or is associated with ventricular septal defect.
Sita Ram Mittal
doaj   +1 more source

Noonan Syndrome Spectrum Disorders Predispose to Systemic Lupus Erythematosus: Case Report and Critical Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT RASopathies are clinically overlapping neurodevelopmental syndromes resulting from germline mutations in genes involved in the rat sarcoma/mitogen‐activated protein kinases (RAS/MAPK) pathway. Historically, RASopathies have been described by clinical phenotypes, such as Noonan syndrome and Neurofibromatosis type I.
Anastasia‐Vasiliki Madenidou, Gillian I. Rice, James O'Sullivan, Ben Parker, Ian N. Bruce, Emma Burkitt‐Wright, Tracy A. Briggs   +6 more
wiley   +1 more source

Marfan Syndrome Associated With Intellectual Disability and Behavioral Anomalies: Further Evidence for the Effect of Compound Heterozygous Variants in FBN1 on Phenotypic Severity

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Marfan syndrome (MFS) is a rare connective tissue disorder characterized by involvement of the cardiovascular, ocular, and musculoskeletal systems. Pathogenic variants in FBN1 cause most of the MFS cases; however, intellectual disability (ID) is rarely observed. A non‐consanguineous Pakistani family with four affected individuals was recruited.
Azmatullah Khan, Naseebullah Kakar, Ainullah Kakar, Malte Spielmann, Sajid Malik   +4 more
wiley   +1 more source

Multiple devices inside a large stent

REC: Interventional Cardiology (English Ed.), 2019
A 51 year-old-male, with a diagnosis of severe pulmonary stenosis treated with surgical commissurotomy at the age of 4, was admitted due to severe right heart failure.
Felipe Hernández Hernández, Miguel Artaiz Urdaci, José L. Zunzunegui Martínez   +2 more
doaj   +1 more source

Expanding the Genotype–Phenotype Correlation of Marden–Walker Syndrome due to PIEZO2 Gene Variants: A Case Report From Brazil

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Marden–Walker syndrome (MWS; OMIM 248700) is an extremely rare congenital disorder characterized by multiple joint contractures, craniofacial dysmorphism, neurological abnormalities, and multisystem involvement. Although historically diagnosed on clinical grounds, only a few cases have been molecularly confirmed.
Guilherme Sotto Battiston, Carolina de Souza Araujo, Fernanda Araujo Romera, André Luis Ferreira, Érica Trovisco Martins, Carolina Galhós de Aguiar, José Eduardo Mourão Santos, Rodrigo Ragazzini, Daniela Testoni Costa‐Nobre, Ana Claudia Yoshikumi Prestes, Allan Chiaratti de Oliveira, Eduardo Perrone, Débora Gusmão Melo, Anne Caroline Barbosa Teixeira, Antonio Victor Campos Coelho, Caio Robledo D’Angioli Costa Quaio, Carolina Araujo Moreno, Eduardo Perrone, Jose Bandeira do Nascimento Junior, Jessica Grasiela Araujo Espolaor, Joana Rosa Marques Prota, Joao Bosco de Oliveira Filho, Jose Ricardo Magliocco Ceroni, Kelin Chen, Letícia Torres Ferreira, Lucas Santos de Santana, Luciana Souto Mofatto, Luiza do Amaral Virmond, Marina de Franca Basto Silva, Michele Patricia Migliavacca, Renata Moldenhauer Minillo, Renata Yoshiko Yamada, Roberta Sitnik, Tatiana Ferreira de Almeida, Thiago Yoshinaga Tonholo Silva, Vivian Pedigone Cintra   +35 more
wiley   +1 more source

A Meta‐Analysis and Simplified Nomenclature for Diagonal Coronary Artery and Ramus Intermedius Across Adult and Pediatric Hearts

Clinical Anatomy, EarlyView.
ABSTRACT Anatomical descriptions of left‐sided oblique coronary branches remain inconsistent, hindering imaging interpretation and surgical planning. To quantify the prevalence, branching patterns and morphometry of the ramus intermedius (RI) and diagonal branches, and propose a unified nomenclature.
Yuqian Dai, Sabrina Constantini, Michael J. Montalbano, Marios Loukas   +3 more
wiley   +1 more source

Comprehensive exploration of unexplained dyspnoea in subjects with normal ejection fraction and low natriuretic peptides

ESC Heart Failure, Volume 12, Issue 2, Page 879-887, April 2025.
Abstract Background Unexplained exertional dyspnoea without significant elevation of natriuretic peptides is common. One of the causes might be early heart failure with preserved ejection fraction (HFpEF). Aims This study aimed to characterize patients with exertional dyspnoea and normal/near‐to‐normal N‐terminal pro‐brain natriuretic peptide (NT ...
Emmanuelle Berthelot, Tarek Laouar, Antoine Beurnier, Nataliya Hrynchynshyn, Jean Christophe Eicher, Jean‐Michel Tartière, Patrick Jourdain, Olivier Lairez, Barnabas Gellen   +8 more
wiley   +1 more source