Results 31 to 40 of about 1,298,581 (123)

Clinical Utility of Nuchal Translucency Measurement in First‐Trimester Ultrasound Screening in a Setting With First‐Tier NIPT for Aneuploidy Screening

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To investigate the additional clinical value of nuchal translucency (NT) measurement at the first‐trimester anomaly scan (FTAS) in a setting with first‐tier non‐invasive prenatal testing (NIPT). Method This nationwide prospective cohort study, part of the IMITAS study on FTAS implementation, included all pregnancies with increased NT
Eline E. R. Lust, Kim Bronsgeest, Lidewij Henneman, Neeltje M. T. H. Crombag, Caterina M. Bilardo, Robert‐Jan H. Galjaard, Esther Sikkel, Audrey B. C. Coumans, Ayten Elvan‐Taşpınar, Sander Galjaard, Attie T. J. I. Go, Gwendolyn T. R. Manten, Eva Pajkrt, Elisabeth van Leeuwen, Monique C. Haak, Mireille N. Bekker   +15 more
wiley   +1 more source

Efficacy of Transdiagnostic Emotion‐Focused Therapy in the Treatment of Depression and Anxiety Symptoms: A Quasi‐Experimental Study

Counselling and Psychotherapy Research, Volume 26, Issue 4, December 2026.
ABSTRACT Objectives This study is among the first to assess the efficacy of teletherapy‐delivered Transdiagnostic Emotion‐Focused Therapy (EFT‐T) for university students with depression and anxiety symptoms. Methods Therapy was offered in a 12–16 session format. Forty students with depression and anxiety symptoms (diagnosed using the Mini‐International
Petr Mikoška, Ľubor Pilárik, Lukáš Novák, Michaela Ladmanová, Tomáš Bok, Martin Fülep, Ladislav Timulak   +6 more
wiley   +1 more source

Phosphatidylglycerol Supplementation Alters Mitochondrial Morphology and Cardiolipin Composition

Membranes, 2022
The pathogenic variant of the TAZ gene is directly associated with Barth syndrome. Because tafazzin in the mitochondria is responsible for cardiolipin (CL) remodeling, all molecules related to the metabolism of CL can affect or be affected by TAZ ...
I Chu, Ying-Chih Chen, Ruo-Yun Lai, Jui-Fen Chan, Ya-Hui Lee, Maria Balazova, Yuan-Hao Howard Hsu   +6 more
doaj   +1 more source

Revisiting Inherited Metabolic Diseases (IMDs) Through the Lens of Selective Autophagy

Journal of Inherited Metabolic Disease, Volume 49, Issue 6, November 2026.
ABSTRACT Selective autophagy is increasingly recognized as a fundamental quality‐control mechanism that complements bulk autophagy by enabling the targeted degradation of specific intracellular cargos, including mitochondria, endoplasmic reticulum (ER), lipid droplets, glycogen, peroxisomes, ferritin, ribosomes, and protein aggregates.
Marianna Maddaluno, Laura Cinque, Viviana Cetrangolo, Chiara De Leonibus   +3 more
wiley   +1 more source

Cardiac‐specific succinate dehydrogenase deficiency in Barth syndrome

EMBO Molecular Medicine, 2015
Barth syndrome (BTHS) is a cardiomyopathy caused by the loss of tafazzin, a mitochondrial acyltransferase involved in the maturation of the glycerophospholipid cardiolipin.
Jan Dudek, I‐Fen Cheng, Arpita Chowdhury, Katharina Wozny, Martina Balleininger, Robert Reinhold, Silke Grunau, Sylvie Callegari, Karl Toischer, Ronald JA Wanders, Gerd Hasenfuß, Britta Brügger, Kaomei Guan, Peter Rehling   +13 more
doaj   +1 more source

Self-regulation in Barth syndrome: a qualitative perspective of adolescents, adults and parents in the U.K

Orphanet Journal of Rare Diseases, 2021
Background Barth syndrome (BS) is a life-threatening genetic disease caused by abnormal lipids in the mitochondria of cells and mostly affects young males.
Aidan Searle, Georgia Herbert, Lucy Dabner, Colin G. Steward, Michaela Damin, Guido Pieles   +5 more
doaj   +1 more source

Structure–Activity Relationships of 1,4‐Benzodiazepines Inhibiting the Voltage‐Gated Potassium Channel KV7.1

Archiv der Pharmazie, Volume 359, Issue 10, October 2026.
KV7.1 antagonists hold potential for the treatment of diarrhea, reflux esophagitis, and hypoinsulinemia. To derive structure–activity relationships, the lead KV7.1 antagonist L768,673 was thoroughly modified in 1‐ and 3‐positions. The 3‐fluoropropyl‐substituted 1,4‐benzodiazepine showed promising KV7.1 inhibitory activity, qualifying it as a potential ...
Florian Roßner, Amy Methaq, Guiscard Seebohm, Bernhard Wünsch   +3 more
wiley   +1 more source

Curating the Fetal Genome: Experience of the ClinGen Prenatal Gene Curation Expert Panel (GCEP)

Prenatal Diagnosis, Volume 46, Issue 11, Page 1703-1710, October 2026.
ABSTRACT Objective Expert prenatal focused gene‐disease curation is necessary to accurately inform clinical care in the setting of rapidly expanding prenatal genomic sequencing. Methods An international Prenatal Gene Curation Expert Panel assembled and systematically reviewed genes asserted to be associated with prenatal hydrops, stillbirth, or severe ...
Stephanie N. Galloway, Jessica L. Giordano, Carrie Shawber, Natalie Chandler, Lauren Westerfield, Prenatal GCEP Panel members, Ronald J. Wapner, Wendy Chung, Ignatia B. Van den Veyver, Shagun Aggarwal, Caitlin Baptiste, Brenna Boyd, Amanda Buchanan, Alicia Byrne, Imen Chakchouk, David Chitayat, Lyn Chitty, Pinal Dalwadi, Avinash Dharmadhikari, Lilian Downie, Stephanie Dukhovny, Mythily Ganapathi, Kelly Gilmore, Elena Greenfeld, Lylach Haizler‐Cohen, Vaidehi Jobanputra, Gabrielle Litteken, Hannah Perrin, Julie Ratliff, Rebecca Reimers, Erin Riggs, Teresa Sparks, Samantha Stover, Amanda Thomas‐Wilson, Leandra Tolusso, Neeta Vora, Tsegaselassie Workalemahu, Roni Zemet‐Lazar   +37 more
wiley   +1 more source

Stroke associated with Barth syndrome.

, 2006
Barth syndrome is an inherited disorder characterized by dilated cardiomyopathy, neutropenia, growth retardation, and skeletal myopathy. We describe a case of acute stroke owing to Barth syndrome that required intra-arterial thrombolysis.
Kasner, Scott E, Liebeskind, David S, Hwang, Vivian, Ances, Beau M, Messé, Steven R, Weigele, John B, Sullivan, Joseph   +6 more
core   +1 more source

Elamipretide Rejuvenates Oocyte Quality and Restores Female Fertility During Reproductive Aging

Aging Cell, Volume 25, Issue 10, October 2026.
We reported a novel peptide therapy showing that elamipretide restores the quality of aged oocytes for fertility by coordinately boosting oocyte nuclear and cytoplasmic maturation via activation of the VEGF signaling pathway. ABSTRACT Aging represents a major contributor to the deterioration of female fertility, with oocyte quality being the central ...
Hao‐Lin Zhang, Yue Wang, Caizhu Wang, Xin Guo, Huanhua Chen, Yu‐Xuan Hou, Xuan Wu, Zi‐Jian Wu, Wen‐Lin Pan, Rui‐Jie Ma, Ping‐Shuang Lu, Jinhui Shu, Shao‐Chen Sun   +12 more
wiley   +1 more source