Results 251 to 260 of about 330,544 (344)

Parental counselling and autopsy results: A retrospective diagnostic cohort study at a multidisciplinary fetal neurology clinic

Developmental Medicine &Child Neurology, EarlyView.
Plain language summary: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.70022 Abstract Aim To examine the accuracy of prenatal counselling at a multidisciplinary fetal neurology clinic (FNC) that led to termination of pregnancy (TOP), to improve the quality of future consultations. Method This retrospective diagnostic cohort study compared the imaging
Avi Shariv, Michal Gafner, Zvi Leibovitz, Letizia Schreiber, Dvora Kidron, Ayala Arad, Efrat Hadi, Stephanie Libzon, Liat Ben Sira, Maya Goldschmidt Manor, Dorit Lev, Tally Lerman‐Sagie, Liat Gindes   +12 more
wiley   +1 more source

Clinical and genetic landscape of epilepsies with absence seizures and single‐gene etiology

Epilepsia, EarlyView.
Abstract Objective To characterize the clinical, electroencephalographic, and genetic features of epilepsies featuring absence seizures within monogenic etiology, highlighting the diagnostic, treatment and prognostic implications. Methods We conducted a retrospective, multicenter study including patients with monogenic epilepsies and ...
Simona Balestrini, Ilaria Galli, Maria Luisa Ricci, Elena Parrini, Davide Mei, Mario Mastrangelo, Francesco Pisani, Corinna Filippi, Lucio Giordano, Elisabetta Cesaroni, Carla Marini, Emanuele Cerulli Irelli, Carlo di Bonaventura, Marica Rubino, Antonietta Coppola, Jacopo Proietti, Tommaso Lo Barco, Francesca Darra, Laura Licchetta, Francesca Bisulli, Marco Perulli, Domenica Battaglia, Angela De Dominicis, Marina Trivisano, Nicola Specchio, Roberta Solazzi, Davide Caputo, Laura Canafoglia, LICE Collaborative group, Carmen Barba, Emanuele Bartolini, Pia Bernardo, Maria Paola Canevini, Gaetano Cantalupo, Susanna Casellato, Mara Cavallin, Ilaria Contaldo, Alessandro Ferretti, Maria Luigia Gambardella, Tiziana Granata, Giuliana Lentini, Anna Luchetti, Federico Melani, Pasquale Parisi, Simona Pellacani, Laura Pietrangelo, Tiziana Pisano, Ilaria Onida, Emilia Ricci, Aglaia Vignoli, Renzo Guerrini   +50 more
wiley   +1 more source

Genetics and Genomics of Congenital Heart Disease.

Circulation Research, 2017
Samir Zaidi, M. Brueckner
semanticscholar   +1 more source

Management of a diaphragmatic hernia using self‐locking knots

Equine Veterinary Education, EarlyView.
Summary A 4‐year‐old Thoroughbred gelding was presented with a history of severe colic signs that were non‐responsive to non‐steroidal anti‐inflammatory drugs. During initial evaluation, distended small intestine was observed, together with continued colic signs and a serosanguinous abdominocentesis sample.
A. Gillen, A. Shanklin, A. Graham, A. A. Alvarez, C. Baldwin   +4 more
wiley   +1 more source

ER proteostasis meets mitochondrial function: contact sites as hubs of communication and therapeutic targets

The FEBS Journal, EarlyView.
Proteostasis ensures proper protein folding, modification, and degradation, while its impairment triggers ER stress. Chronic ER stress and maladaptive UPR via the CHOP–ERO1 axis remodel ERMCs, altering calcium signaling and mitochondrial metabolism.
Giorgia Maria Renna, Alessandro Cherubini, Ersilia Varone, Serena Germani, Alice Marrazza, Ester Zito   +5 more
wiley   +1 more source

Carotid Intima‐Media Thickness as a Marker of Subclinical Atherosclerosis in Adolescents With Severe Haemophilia

Haemophilia, EarlyView.
ABSTRACT Background The clinical focus of haemophilia has expanded beyond bleeding outcomes to encompass long‐term comorbidities such as cardiovascular disease (CVD). However, it remains unclear when vascular changes begin in this population. Carotid intima‐media thickness (cIMT), a validated, non‐invasive marker of subclinical atherosclerosis, may ...
Alyson Trillo, Juanita Hunter, Audrey Ofir, Jamie Shoag, Joanna A. Davis, Fernando F. Corrales‐Medina   +5 more
wiley   +1 more source

Melatonin and the Dental Pulp: A Scoping Review

International Endodontic Journal, EarlyView.
ABSTRACT Background In general medicine, melatonin is known to enhance wound healing and promote stem cell differentiation. Its potential relevance in endodontics, however, remains underexplored. Objectives This scoping review aimed to systematically assess the available evidence on the effects of melatonin (a) on dental pulp tissue and (b) on human ...
Jasmin Schäfer, Konrad Kleszczynski, Edgar Schäfer   +2 more
wiley   +1 more source

Mediating Effects of Family and Clinical Characteristics on the Quality of Life of Children With Spina Bifida and Their Parents

Journal of Advanced Nursing, EarlyView.
ABSTRACT Aims (1) To determine the mediating effects of children's transition readiness, which reflects self‐management skill acquisition, and family resilience on the relationship between parenting stress and the quality of life (QOL) of parents and children with spina bifida (SB).
Seung Hyeon Yang, Hyeseon Yun, Hooyun Lee, Kyua Kim, Chang Gi Park, Eun Kyoung Choi   +5 more
wiley   +1 more source

Cyclin‐dependent kinase 13 is indispensable for normal mouse heart development

Journal of Anatomy, Volume 246, Issue 4, Page 616-630, April 2025.
Congenital heart disease (CHD) is the most common defect in live births. The role of cyclin‐dependent kinase (CDK13) in cardiogenesis and CHD was studied using a transgenic mouse model (Cdk13tm1b) carrying deletion of exons 3 and 4, causing loss of function.
Qazi Waheed‐Ullah, Anna Wilsdon, Aseel Abbad, Sophie Rochette, Frances Bu'Lock, Asma Ali Saed, Marc‐Phillip Hitz, J. David Brook, Siobhan Loughna   +8 more
wiley   +1 more source