Results 51 to 60 of about 98,167 (262)

Genotype–Phenotype Correlations of Monoallelic PFIC Variants in Pediatric Liver Disease: A Multicenter Retrospective Cohort Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Progressive familial intrahepatic cholestasis (PFIC) is classically caused by biallelic pathogenic variants, yet monoallelic variants of uncertain significance (VUS) in PFIC‐associated genes are increasingly identified in children with cholestasis, creating diagnostic uncertainty.
Brett J. Hoskins, Tiziano Pramparo, Chaowapong Jarasvaraparn, Michael J. Wilsey, Voytek Slowik, Lakshmi Kunam, Janis M. Stoll, Ruben E. Quiros‐Tejeira, Simon Lam, Wikrom Karnsakul   +9 more
wiley   +1 more source

Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF‐β Signaling via Gain‐of‐Function Variants in SMAD4

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena, Alessandro De Falco, Deborah Osio, Eleanor Sherlock, Emma Kivuva, Erina Sasaki, Francis H. Sansbury, Nayana Lahiri, Patricia Foley, Sahar Mansour, Shane McKee, Tazeen Ashraf, Nicola Brunetti‐Pierri, Usha Kini   +13 more
wiley   +1 more source

A novel rat model of pulmonary artery embolism and the application value of lung ultrasound B‐lines in early‐stage pulmonary embolism

Animal Models and Experimental Medicine, EarlyView.
We report a novel embolus‐induced PE rat model prepared via the inferior vena cava under ultrasound guidance. The embolus employed featured a tubular plastic casing filled with thrombus. By minimizing the contact surface between plasmin and thrombus, it effectively restrains the elevated plasmin activity in rats.
Huide Ma, Shuangrui Wang, Honghui Li, Yaxing Zhang, Yuman Gao, Jie Zhou, Xia Xu, Rong Wu   +7 more
wiley   +1 more source

Patología de la aorta abdominal asociada a lesiones de las arterias viscerales

Cirugía del Uruguay, 1980
Las lesiones obliterantes del sector aorto - ilíaco y los aneurismaE de la aorta ,abdominal, se encuentran asociados con relativa frecuencia . a lesiones de las arterias viscerales, especialmente de las renales, y con menor incidencia de la mesentérica ...
Rafael de Sobregrau, E Viver, E Ortiz, A. Rodríguez Mori, J Juan, L de Frutos, J A Gutiérrez   +6 more
doaj  

Ultrasound for the Abdominal Aorta

Journal of Medical Ultrasound, 2021
An-Fu Lee, Cheng-Heng Liu, Po-Yuan Chang, Wan-Ching Lien   +3 more
openaire   +3 more sources

Three‐dimensional geometric morphometric analysis of diaphragmatic dome motion in COPD patients

The Anatomical Record, EarlyView.
Abstract Diaphragmatic dysfunction is a hallmark of chronic obstructive pulmonary disease (COPD), especially in emphysema, where hyperinflation alters diaphragm geometry and impairs inspiratory mechanics. However, quantitative three‐dimensional (3D) assessments of diaphragmatic dome shape and motion across COPD phenotypes are limited.
José M. López‐Rey, Benoît Beyer, Elena García‐Vargas, Isabel Torres‐Sánchez, Francisco García‐Río, Markus Bastir   +5 more
wiley   +1 more source

Aneurismas da aorta Aortic aneurysms

Brazilian Journal of Cardiovascular Surgery, 1992
Entre janeiro de 1979 e janeiro de 1992, foram realizadas 212 operações para correção de aneurismas e de dissecções da aorta. Neste trabalho serão analisados 104 procedimentos cirúrgicos (em 97 pacientes) para correção de aneurismas.
Januário M Souza, Salomón O Rojas, Marcos F Berlinck, Ricardo Mazzieri, Paulo A. F Oliveira, José Renato M Martins, Dante F Senra, Valéria Salazar, Sérgio Almeida de Oliveira   +8 more
doaj  

Possible therapeutic repositioning of valproic acid: From epileptic seizures to acute kidney injury

British Journal of Clinical Pharmacology, EarlyView.
Valproic acid, an anticonvulsant, may be repositioned to prevent acute kidney injury due to ischemia followed by reperfusion. It preserves renal functions, electrolyte homeostasis and active sodium transport in kidney tubules, and blocks the onset of hypertension.
Danilo Alves‐Bezerra, Luiza B. Negreiros, Amaury Pereira‐Acácio, Isadora G. Almeida, João P. M. Veloso‐Santos, Jarlene A. Lopes, Glória Costa‐Sarmento, Humberto Muzi‐Filho, Adalberto Vieyra   +8 more
wiley   +1 more source

Aterosclerosis en edades tempranas de la vida: Estudio patomorfológico y morfométrico aplicando el sistema aterométrico

Revista Cubana de Investigaciones Biomédicas, 1998
Se realizó un estudio de las lesiones ateroscleróticas en 50 aortas de fallecidos menores de 35 años, cuyas causas de muerte no estaban relacionadas con la enfermedad aterosclerótica, separados en 3 grupos de edades y sexo.
Roberto Wong Navarro, José E Fernández-Britto Rodríguez, Daniel Contreras Barrionuevo, Hans Guski   +3 more
doaj  

Identification of major congenital malformations based on healthcare databases in France: A proof‐of‐concept study using the epi‐meres nationwide mother–child register

British Journal of Clinical Pharmacology, EarlyView.
Abstract Aim Besides registries, healthcare databases can provide useful information for assessing the frequency of major congenital malformations (MCMs) and investigating their risk factors, particularly medication exposures. This study aimed to assess the validity of MCMs identification based on French national, comprehensive healthcare databases ...
Tom Duchemin, Lise Marty, Jérôme Drouin, Sara Miranda, Jérémie Botton, Valérie Olié, Alain Weill, Rosemary Dray‐Spira   +7 more
wiley   +1 more source