Results 201 to 210 of about 172,801 (303)

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

Burden of congenital anomalies in Faisalabad, Pakistan: Consanguinity, ethnic disparities and public health implications. [PDF]

Pak J Med Sci
Sajid S, Batool Z, Rashid A, Naz S, Malik S.   +4 more
europepmc   +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

MEF2C networks in heart tube development. [PDF]

Genes Dev
Abdulrazzak H, Mercola M.
europepmc   +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

Isolated Double-Chambered Right Ventricle in an Adult Patient: Diagnosis to Management. [PDF]

Cureus
Medarametla GK, Deora S, Kaushik A, Choudhary R, Katti M.   +4 more
europepmc   +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

Adams-Oliver Syndrome: A Comprehensive Literature Review of Clinical, Nutritional, Genetic, and Molecular Aspects with Nursing Care Considerations. [PDF]

Int J Mol Sci
Badiu Tișa I, Cozma-Petruț A, Chiorean AD, Miere D, Filip L, Banc R, Mîrza O, Bordea MA.   +7 more
europepmc   +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

Heart failure caused by Opitz syndrome: a case report and literature review. [PDF]

BMC Cardiovasc Disord
Wang Y, Wu X, Wang K.
europepmc   +1 more source