Results 51 to 60 of about 113,709 (303)

Cardiovascular health in pediatric patients with X-linked hypophosphatemia under two years of burosumab therapy

Frontiers in Endocrinology
IntroductionX-linked hypophosphatemia (XLH) is caused by an inactivating mutation in the phosphate-regulating endopeptidase X-linked (PHEX) gene whose defective product fails to control phosphatonin fibroblast growth factor 23 (FGF23) serum levels ...
Avivit Brener, Avivit Brener, Roxana Cleper, Roxana Cleper, Guy Baruch, Guy Baruch, Ehud Rothschild, Ehud Rothschild, Michal Yackobovitch-Gavan, Gil Beer, Gil Beer, Leonid Zeitlin, Leonid Zeitlin, Livia Kapusta, Livia Kapusta, Livia Kapusta   +15 more
doaj   +1 more source

Acute onset of refractory hypoxemia: A rare hemodynamic cause of dyspnea

Indian Journal of Respiratory Care, 2019
Platypnea-orthodeoxia syndrome (POS) is a rare condition of positional dyspnea with hypoxemia that can pose a diagnostic challenge to clinicians. We report two cases of POS with different pathophysiologic triggers and similar clinical features.
Tommaso Valobra, Umberto Ceratti, Alessandra Cernuschi   +2 more
doaj   +1 more source

Clinical Characteristics and Concordance of Anti‐MDA5 Antibodies: A Multicenter Australian Study

Arthritis Care &Research, EarlyView.
Objective In Australia, anti‐MDA5 antibodies are exclusively tested by a line immunoblot assay (LIA). The clinical concordance of an LIA‐positive anti‐MDA5 result is unclear. We aimed to describe the clinical features and determine the clinical concordance of patients with anti‐MDA5 antibodies. Methods Electronic records of a multisite cohort (patients
Syed B. Ali, Thomas Khoo, Keeran Shivakumar, Adam Caroll, Lauren Hender, Dimitra Beroukas, Kim Griggs, Celina Jin, Theo De Malmanche, Jessica Day, Gabor Major, Vidya Limaye   +11 more
wiley   +1 more source

Portopulmonary hypertension practice patterns after liver transplantation

Liver Transplantation, EarlyView., 2022
Abstract Portopulmonary hypertension (POPH) is a type of pulmonary arterial hypertension occurring exclusively in those with portal hypertensive liver disease. Liver transplantation (LT) can significantly improve outcomes. Current guidelines counsel against immediate adjustments to targeted therapy after LT and suggest routine echocardiography as ...
Arun Jose, Elizabeth J. Kopras, Shimul A. Shah, Jean M. Elwing   +3 more
wiley   +1 more source

Circulating Biomarkers and Cardiac Structure and Function in Rheumatoid Arthritis

Frontiers in Cardiovascular Medicine, 2021
Background: Rheumatoid arthritis (RA) increases the risk for abnormalities of the cardiac structure and function, which may lead to heart failure (HF). Studying the association between circulating biomarkers and echocardiographic parameters is important ...
Masatake Kobayashi, Maria Betânia Ferreira, Maria Betânia Ferreira, Maria Betânia Ferreira, Rita Quelhas Costa, Tomás Fonseca, José Carlos Oliveira, António Marinho, António Marinho, Henrique Cyrne Carvalho, Henrique Cyrne Carvalho, Henrique Cyrne Carvalho, Nicolas Girerd, Patrick Rossignol, Faiez Zannad, Patrícia Rodrigues, Patrícia Rodrigues, Patrícia Rodrigues, João Pedro Ferreira, João Pedro Ferreira   +19 more
doaj   +1 more source

When Biology Meets Medicine: A Perspective on Foundation Models

Advanced Intelligent Discovery, EarlyView.
Artificial intelligence, and foundation models in particular, are transforming life sciences and medicine. This perspective reviews biological and medical foundation models across scales, highlighting key challenges in data availability, model evaluation, and architectural design.
Kunying Niu, Yuxing Wang, Limin Zou, Jing Huang   +3 more
wiley   +1 more source

Case Report: Myocardial dissection caused by ruptured sinus of Valsalva aneurysm in association with a bicuspid aortic valve

Frontiers in Cardiovascular Medicine, 2023
In this report, we present a case of left-right sinus fusion in a Ruptured sinus of Valsalva aneurysm (RSVA) that perforated into the myocardium, giving rise to myocardial dissection.
Xinyan Zhou, Yan Xu, Qian He, Na Tan, Jixiang Chu, Bin Liu, Yu Zhu, Chengde Liao, Yu Jiang   +8 more
doaj   +1 more source

Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland, Amber Nakar Weinstein, Eric C. Kao, Xiaonan Zhao, Monika Weisz‐Hubshman   +4 more
wiley   +1 more source

A Case of Multiple Mitochondrial Dysfunctions Syndrome 1 and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Multiple mitochondrial dysfunctions syndrome 1 (MMDS1, MIM #605711) due to NFU1 gene defects is an ultra‐rare autosomal recessive inborn error of metabolism associated with reduced function of NFU1 iron–sulfur cluster (ISC) scaffold protein.
Charles R. DiFalco, Aaron Williams, Claudia Soler‐Alfonso, Emily Waskow, Elizabeth Mizerik, Fernando Scaglia, Chaya N. Murali   +6 more
wiley   +1 more source

Bilateral coronary-pulmonary fistulae, diagnosed by transoesophageal echocardiogram [PDF]

, 2010
Bilateral coronary artery fistulae to pulmonary artery is a rare condition.
Kadappu, Krishna Kishor, French, John K ; https://orcid.org/, Rajaratnam, Rohan ; https://orcid.org/, John Kerswell French, Thomas, Liza ; https://orcid.org/, Krishna Kishor Kadappu, Rohan Rajaratnam, Liza Thomas   +7 more
core   +1 more source