Results 171 to 180 of about 347,198 (324)

Is There Potential Clinical Utility in Reporting Variants of Uncertain Significance From Prenatal Sequencing?

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Prenatal sequencing of fetuses with abnormalities detected on imaging is expanding globally. Debate continues over whether variants of uncertain significance (VUS) should be reported prenatally, with some recent national position statements opposing this.
A. Gibbs, R. Braham, V. Ramachandran, R. Roberts, C. Willison, T. Ashraf, J. Cobben, A. Gardham, M. Holder‐Espinasse, T. Homfray, S. G. Mehta, D. Tapon, P. Vasudevan, N. J. Chandler   +13 more
wiley   +1 more source

Myocardial involvement in desmin myopathy due to a DES c.1360C > T (p.Arg454Trp) variant. [PDF]

Eur Heart J Case Rep
Wang Y, Yang K, Lu M.
europepmc   +1 more source

Unexpected systemic amyloidosis in patient with restrictive cardiomyopathy Case report

, 2018
Systemic amyloidosis is a rare disease and it is caused by deposition of insoluble abnormal fibrillary proteins known as amyloid in extracellular space.
Gabrijela Stanic, Stanic, Gabrijela
core  

A review of the relationship between dimensions of alcohol consumption and the burden of disease: 2026 update including Mendelian randomisation studies

Addiction, EarlyView.
Abstract Background and aims Evidence on the causal impact and corresponding risk relationships between dimensions of alcohol consumption and health outcomes continues to evolve, with some contradictory findings across study designs. This review aimed to update current knowledge on causality and risk relationships to inform global and national ...
Sinclair Carr, Ana Lucia Espinosa Dice, Gerhard E. Gmel Sr., Ahmed S. Hassan, Kevin D. Shield, Jürgen Rehm   +5 more
wiley   +1 more source

Systemic Therapy Management Strategies for Early‐Stage Breast Cancer in Australia

Asia-Pacific Journal of Clinical Oncology, EarlyView.
Advances in systemic therapy for early‐stage breast cancer in Australia highlight genomic‐guided decisions, subtype‐specific strategies, and emerging targeted and immunotherapies, shaping personalized and de‐escalated treatment approaches. ABSTRACT Breast cancer is the most common cancer among Australian women, with early‐stage disease (Stages I, II ...
Nicholas Zdenkowski, Rachel Dear, Sanjeev Kumar, Hilary Martin, Dhanusha Sabanathan, Stephen J. Luen, Belinda Yeo   +6 more
wiley   +1 more source

Heart Failure in Hypertrophic Cardiomyopathy. [PDF]

Card Fail Rev
Nguyen O, Kamna D, Masri A.
europepmc   +1 more source

Targeting Immunologic Pathways in Eosinophilic Granulomatosis With Polyangiitis: Translating Emerging Evidence Into Clinical Practice

Allergy, EarlyView.
ABSTRACT Eosinophilic granulomatosis with polyangiitis (EGPA) is a rare and potentially life‐threatening systemic, inflammatory disease with multi‐organ manifestations, variable presentation and complex pathology. Multiple interconnected immunological pathways are implicated in EGPA pathology, including a type‐2 immune response driving predominantly ...
Harold Wilson‐Morkeh, Lior Seluk, Philipp Bosch, Carolina Aguiar, Jens Thiel, Bernhard Hellmich, Michael E. Wechsler, Salman Siddiqui   +7 more
wiley   +1 more source

Editorial: Cardiovascular genetics—focus on paediatric cardiomyopathy

Frontiers in Pediatrics, 2023
Emanuele Monda, Juan Pablo Kaski, Giuseppe Limongelli, Giuseppe Limongelli   +3 more
doaj   +1 more source

Correction: The MYH7 c.2770G > A (p.Glu924Lys) mutation exhibits phenotypic heterogeneity in hypertrophic cardiomyopathy (HCM) and restrictive cardiomyopathy (RCM): a case report. [PDF]

BMC Cardiovasc Disord
Han Y, Wang H, Zhang H, Wang M, Gan L, Meng F.   +5 more
europepmc   +1 more source

Nut Consumption and Sperm Quality in Healthy Men: Results From the Led‐Fertyl Study

Andrology, EarlyView.
ABSTRACT Background Nuts are rich in antioxidants and other bioactive compounds, and recent evidence suggests that their regular consumption may be associated with sperm quality. However, the current scientific evidence remains limited and inconsistent.
Estefanía Dávila‐Córdova, Nancy Babio, Cristina Valle‐Hita, María Fernández de la Puente, Alfonso Beltran‐Arasa, Miguel Cebrián‐Puig, Violeta Fambuena‐Perez, Iván García‐Serrano, Michelle M. Murphy, Jordi Salas‐Salvadó, Albert Salas‐Huetos   +10 more
wiley   +1 more source