Results 81 to 90 of about 422,254 (259)

Sarcopenia in Patients with Chronic Thromboembolic Pulmonary Hypertension

Journal of Cardiovascular Development and Disease
Background: Sarcopenia, or loss of skeletal muscle mass, has been associated with poor outcomes (e.g., functional decline, increased mortality, and low quality of life), but its role in CTEPH remains unclear.
Steven Hopkins, Jillian Hall, Hollie Saunders, Riyaz Bashir, Vladimir Lakhter, Anjali Vaidya, Ahmed Sadek, Paul Forfia, Estefania Oliveros   +8 more
doaj   +1 more source

Genomic Contributors to Congenital Diaphragmatic Hernia: Results of Exome Sequencing in 560 Probands and Cross Reference of Findings in an Independent Cohort

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT There is a strong genetic contribution to the etiology of congenital diaphragmatic hernia (CDH). This study evaluated genetic testing results and diagnostic yield for fetuses and children with CDH. This was a retrospective cohort study of exome sequencing (ES) performed at GeneDx for fetuses and children ≤ 18 years of age with CDH compared ...
Justin Blair, Kevin Carratu, Natalie E. Rintoul, Holly L. Hedrick, William H. Peranteau, Catherine M. Avitabile, Kirsty McWalter, Paul Kruszka, Ian D. Krantz, K. Taylor Wild   +9 more
wiley   +1 more source

Clinical Outcomes and Patient Experiences With Celiprolol Therapy in Vascular Ehlers–Danlos Syndrome: The First Non‐European Cohort

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Vascular Ehlers–Danlos syndrome (vEDS) is a hereditary connective tissue disorder caused by heterozygous pathogenic variants in COL3A1. European studies have shown that celiprolol may reduce the risk of life‐threatening vascular events, but outcomes in non‐European populations and the therapy's psychological impact remain unclear. We conducted
Megumi Furuhata‐Yoshimura, Tomomi Yamaguchi, Tomoki Kosho   +2 more
wiley   +1 more source

Electrocardiographic and Skin Manifestations of Turner Syndrome: Association With Cardiovascular Disease

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Congenital heart disease (CHD) and dermatologic conditions such as lymphedema and acquired melanocytic nevi (AMN) are common in Turner Syndrome (TS). We hypothesized that abnormalities of cranial neural crest cell derivatives drive the skin and heart manifestations of TS. We conducted joint cardiac and skin examinations of volunteers at a 2023
Sarah Elsaim, Brett Vernier, Van Thi Thanh Truong, Riya T. Patel, Matthew Brown, Martin Chacon Portillo, Megan Rogge, David Rodriguez‐Buritica, Siddharth K. Prakash   +8 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

Diuretic adherence in patients with pre-capillary pulmonary hypertension: insights from the PHARE study

ERJ Open Research
Background Supportive treatments, such as diuretics, play a critical role in managing pulmonary hypertension (PH). While low adherence to oral PH therapies worsens outcomes, the impact of diuretic adherence is less clear.
Antoine Le Bozec, Samuel D. Cohen, David Montani, Athénaïs Boucly, Christophe Guignabert, Anne Roche, Salma Al Kahf, Antoine Beurnier, Olivier Sitbon, Xavier Jaïs, Mitja Jevnikar, Marc Humbert, Laurent Savale, Marie-Camille Chaumais   +13 more
doaj   +1 more source

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young, Armelle Pindon, Maggie R. Brand, Kate Wears, Katherine H. Young, Alyssa Mendel, Michael J. Lyons   +6 more
wiley   +1 more source

Is pulmonary arterial hypertension associated with interferon-β therapy for multiple sclerosis reversible? A case study to explore the complexity

ERJ Open Research, 2020
Anastasia Anthi, Eleni Stagaki, Loukianos Rallidis, Dimitrios Konstantonis, Maria-Eleftheria Evangelopoulos, Konstantinos Voumvourakis, Apostolos Armaganidis, Stylianos E. Orfanos   +7 more
doaj   +1 more source

Unexplained breathlessness: Integrating pathophysiological insights with clinical evaluation

Clinical Medicine
Unexplained breathlessness is a challenging symptom encountered across diverse medical conditions. This review will briefly overview the interplay between central neural mechanisms and peripheral receptor activity leading to symptom perception.
Andrea Baccelli, Francesco Lo Giudice, Gulammehdi Haji, Rachel J. Davies, Wendy Gin-Sing, Luke S. Howard   +5 more
doaj   +1 more source

Therapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre Syndrome (MYHRS, MIM #139210) is a rare, multisystem connective tissue disorder caused by recurrent heterozygous gain‐of‐function pathogenic variants in the SMAD4 gene, a key player in TGF‐β signaling and a regulator of extracellular matrix homeostasis.
Alessandro De Falco, Alfonso Manuel D'Alessio, Nicola Brunetti‐Pierri   +2 more
wiley   +1 more source