Results 51 to 60 of about 962 (189)

Surviving Males With PORCN Variants: Expanding the Clinical, Molecular, and Mechanistic Spectrum

Clinical Genetics, EarlyView.
Pathogenic PORCN variants are compatible with male survival in both mosaic and non‐mosaic states, expanding the FDH/PONGOS spectrum and improving diagnosis and genetic counseling. ABSTRACT Pathogenic variants in PORCN cause focal dermal hypoplasia (FDH/Goltz syndrome), an X‐linked dominant disorder historically considered lethal in males, with milder ...
Lucía Miranda‐Alcaraz, Simone Carbonera, Mónica Mora‐Gómez, Natalia Gallego‐Zazo, Inmaculada Guillén, Elena Padilla, Gaia Visani, Alessia Asaro, Valeria Vásquez‐Amell, Mario Cazalla, Manuel Rodríguez‐Canó, Cristina Silván, Pedro Arias, Juan Andrés Jiménez‐Estrada, Tomás Valle, Alejandro Cruz‐Utrilla, Pilar Escribano‐Subías, Nuria Ochoa Parra, María Jesús del Cerro Marín, Julián Nevado, Spanish PAH Consortium, Pablo Lapunzina, Fabio Sirchia, Jair Tenorio‐Castano   +23 more
wiley   +1 more source

Glomerulonefritis por biopsia en población atendida en el Hospital Nacional Dos de Mayo. Lima, 2007-2016

Anales de la Facultad de Medicina, 2018
Introducción. La biopsia renal percutánea es uno de los procedimientos que más ha contribuido al conocimiento de las enfermedades renales. Nuestro país no cuenta con datos actualizados sobre este tema en específico.
Guillermo Valdez-Yánez, Javier Hernández-Pacheco, Luis Arellán-Bravo, Percy Velásquez-Castillo, Vanessa Matias-Tasayco, Jorge Espinoza-Verástegui, Carmen Asato-Higa   +6 more
doaj   +1 more source

Enfermedad renal crónica y olfato

Nefrología, 2020
Resumen: Las alteraciones en el sentido del olfato (disosmia, anosmia, hiposmia) son frecuentes en los pacientes con enfermedad renal crónica; sin embargo, hasta el momento actual las causas, consecuencias y tratamiento de estas alteraciones han sido poco abordadas.
M. Ludivina Robles-Osorio, Rebeca Corona, Teresa Morales, Ernesto Sabath   +3 more
openaire   +2 more sources

Eco‐Epidemiological Study of Seropositivity Against Rickettsia and Leptospira Agents in Rural Areas of Urabá, Colombia

Tropical Medicine &International Health, EarlyView.
ABSTRACT Introduction Rickettsioses and leptospirosis are infectious diseases often underdiagnosed due to limited knowledge about their epidemiology, pathophysiology, and clinical aspects. Objectives To characterize the seroprevalence and seroincidence of Rickettsia and Leptospira agents and determine their associated factors in rural areas of Urabá ...
Mariana Torres‐Bustamante, Omar Cantillo‐Barraza, Albert I. Ko, Elsio A. Wunder Jr, Juan C. Quintero‐Vélez   +4 more
wiley   +1 more source

Ecological and Individual‐Level Factors Associated With Hantavirus Cardiopulmonary Syndrome Notifications and in‐Hospital Mortality Among Hospitalized Patients in Chile, 2005–2022

Zoonoses and Public Health, EarlyView.
ABSTRACT Introduction Hantavirus cardiopulmonary syndrome (HCPS) is a severe zoonotic disease caused by Orthohantavirus andesense (Andes virus, ANDV), with significant public health burden in Chile. Despite decades of surveillance, knowledge gaps remain regarding the ecological drivers of notification burden and the individual‐level determinants of in ...
Benjamín Diethelm‐Varela, Nicolhole Atero, Fernanda Sánchez‐Rodríguez, Constanza Martínez‐Valdebenito, Carolina Henríquez, Francisca Córdova‐Bührle, Marcela Ferrés, Fernando O. Mardones   +7 more
wiley   +1 more source

Coordinated regulation of PIEZO2 by alternative splicing, post‐translational modification, membrane trafficking and protein partners

The Journal of Physiology, EarlyView.
Abstract figure legend Regulatory mechanisms such as alternative splicing, post‐translational modification, membrane trafficking, and protein interactions control channel gating, membrane abundance, and overall activity of PIEZO2. Proper regulation supports PIEZO2‐dependent proprioceptive, somatosensory, nociceptive, pruriceptive and interoceptive ...
Eunice I. Oribamise, Qinglu Li, Mary G. Garry   +2 more
wiley   +1 more source

A Semi‐Interpretable Multimodal Model Combining Electronic Health Records and Chest X‐Rays for COVID‐19‐Related Death Prediction

Expert Systems, Volume 43, Issue 11, November 2026.
ABSTRACT Purpose Prognostic models can benefit from integrating heterogeneous data sources. While deep learning‐based multimodal models often improve predictive performance, their limited interpretability remains a barrier to clinical adoption. Moreover, achieving robust generalization with such models typically requires large and diverse datasets ...
Lander Rodriguez‐Idiazabal, Jose M. Quintana, Javier Del Ser, Jose Javier Echevarria‐Uraga, Maria Jose Legarreta, Nere Larrea, Fernando García‐García, Irantzu Barrio   +7 more
wiley   +1 more source

Clinical Significance of Therapeutic Drug Level Monitoring for Mycophenolate in Patients With Extrarenal Systemic Lupus Erythematosus—A Systematic Review and Meta‐Analysis

Arthritis Care &Research, Volume 78, Issue 10, Page 1424-1437, October 2026.
Objective Clinical response to mycophenolic acid (MPA) is highly heterogeneous; thus, therapeutic drug level monitoring (TDM) may help improve treatment efficacy. This systematic review and meta‐analysis examined therapeutic ranges for MPA levels associated with better outcomes and safety in patients with systemic lupus erythematosus (SLE ...
Zahraa Qamhieh, Dalia Sriwi, Callie Saric, Tripti Singh, Christie M. Bartels, Shivani Garg   +5 more
wiley   +1 more source

Lung‐Cardiovascular Interactions and Derangements in ARDS

Comprehensive Physiology, Volume 16, Issue 5, October 2026.
This review proposes an anatomical near‐ and far‐field framework for lung‐cardiovascular interactions in ARDS. Grounded in pathological and biological studies, the evidence spans pulmonary vascular, right ventricular, and systemic endothelial derangements and reviews available evidence for targeted therapies.
Pablo A. Sanchez, Connor O'Brien, Matthieu Legrand, Carolyn S. Calfee, Michael A. Matthay   +4 more
wiley   +1 more source

The Binding of Fibroblast Growth Factor 23 (FGF23) to FGF Receptor‐αKlotho Complex Increases Sinoatrial Electrical Activity

Acta Physiologica, Volume 242, Issue 10, October 2026.
ABSTRACT Aim This study aims to investigate whether the Fibroblast Growth Factor 23 (FGF23) modulates the electrical activity of sinoatrial (SAN) cells. The canonical function of FGF23 is to regulate body phosphorus and calcium homeostasis by activating the FGF1 receptors (FGFR1)/α‐Klotho complex in the kidney and parathyroid glands.
Giorgia Bertoli, Patrizia Benzoni, Serena Canzolino, David Molla, Raffaella Milanesi, Chiara Piantoni, Makoto Kuro‐o, Carmen Delgado, Gema Ruiz‐Hurtado, Mirko Baruscotti, Annalisa Bucchi   +10 more
wiley   +1 more source