Results 51 to 60 of about 17,258 (175)

Patient outcomes in KCNQ2 developmental and epileptic encephalopathy

Developmental Medicine &Child Neurology, EarlyView.
Abstract The aim of this study was to review and summarize the literature describing clinically observed or caregiver‐reported and patient‐reported KCNQ2 developmental and epileptic encephalopathy (DEE) outcomes. Three online databases and selected congress proceedings were searched (August 2023).
Grant Maclaine, Michele H. Potashman, Deepshikha Pawar, Sugandh Sharma, Katja Rudell, Jason Lerner, Vlad Coric, Anne T. Berg, John Millichap, Gil L'Italien   +9 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

Fatal spinal cord compression in a horse with chronic actinobacterial cranial nuchal bursitis

Equine Veterinary Education, EarlyView.
Summary A 14‐year‐old warmblood gelding was managed for waxing and waning cranial nuchal bursitis for 2 years. Intensive medical and surgical management was not curative, and the patient was subjected to euthanasia after becoming acutely recumbent. Ante‐mortem and post‐mortem next generation sequencing of bursal tissue and post‐mortem conventional PCR ...
H. Mesch, C. Frank, J. B. Daniels, E. Acutt, E. Contino   +4 more
wiley   +1 more source

Psychosocial effects of intraocular surgery in an Ophthalmology Unit

Revista de Ciencias Médicas de Pinar del Río, 2019
Introduction: as a result of the high incidence of low vision, as well as its negative consequences in the biological, psychological and social spheres, the authors take into account the insufficiency of interdisciplinary studies that collect the ...
Clara Yurina Núñez Castillo, Alexander Quinzan King, Reinaldo Néstor Cueto Marín, Wilmer Valle Castañeda   +3 more
doaj  

Borna disease virus infection: Retrospective case series of five horses and two donkeys in Switzerland

Equine Veterinary Education, EarlyView.
Summary Borna disease is an acute to subacute, rarely chronic non‐purulent meningoencephaylomyelitis affecting mainly horses and sheep. This case series describes the clinical signs, diagnosis, treatment, outcome and post‐mortem findings of five horses and two donkeys with this condition. The equids affected were geldings or mares of various breeds and
I. L. Piotrowski, M. Hilbe, H. K. Junge
wiley   +1 more source

Functional Convergence Spasm and Dysconjugate Eye Movements: A Vignette

Movement Disorders Clinical Practice, EarlyView.
Iryna Klopotovska, Koemi‐Jade Garrick, Diego Kaski   +2 more
wiley   +1 more source

Pregabalin contributes to increased recovery time from isoflurane anaesthesia for magnetic resonance imaging in horses

Equine Veterinary Journal, EarlyView.
Abstract Background Pregabalin reduces excitatory neurotransmitter release and is used for anxiolysis in humans, cats, and horses. The effects of pregabalin on equine recovery following isoflurane anaesthesia are unknown. Objectives To determine if pre‐anaesthetic oral pregabalin influences recovery time and/or quality from isoflurane anaesthesia in ...
Abigail Blanton, Kati G. Glass, Jeanette Bayer, Courtney Baetge, Ryota Watanabe, Sarah N. Sampson, Mauricio Lépiz, Kara Moreno, Keila K. Ida   +8 more
wiley   +1 more source

Fatal Chronic Varicella‐Zoster Viral Infection in a Young Man With Chediak–Higashi Syndrome

Pediatric Dermatology, EarlyView.
ABSTRACT Chediak–Higashi syndrome (CHS) is a rare autosomal recessive primary immunodeficiency characterized by partial oculocutaneous albinism, neurologic involvement, and a predisposition to severe infections. Patients are particularly susceptible to developing hemophagocytic lymphohistiocytosis (HLH), which significantly worsens prognosis. We report
Albane Badet, Clément Pruvot, Zoé Manssens, Wadih Abou‐Chahla, Sébastien Buche   +4 more
wiley   +1 more source

Effect of artificial gravity on calcaneal bone marrow adipose tissue and mineral content in female and male participants in 60 days of bed rest

Experimental Physiology, EarlyView.
Abstract Modulation of bone marrow adipose tissue (BMAT) with prolonged inactivity was reported in haemopoietic but not in non‐haemopoietic bones. This prospective randomized controlled trial submitted 16 men and 8 women to 60 days of 6° head‐down‐tilt bed rest.
Tammy Liu, Gerd Melkus, Tim Ramsay, Alain Berthiaume, Gabriele Armbrecht, Guy Trudel   +5 more
wiley   +1 more source

Nance‐Horan Syndrome: Further Delineation of the Affected Male and the Female Carrier Phenotypes

American Journal of Medical Genetics Part A, Volume 200, Issue 3, Page 642-652, March 2026.
ABSTRACT Nance‐Horan syndrome (NHS; OMIM 302350) is a rare, X‐linked syndrome characterized by bilateral congenital cataracts leading to profound vision loss, specific dental anomalies including characteristic screwdriver blade‐shaped incisors, facial anomalies, and intellectual disability.
Maria K. Haanpää, Chad R. Haldeman‐Englert, Marja Hietala, Melisa S. Tanverdi, Patrick P. Koty, Diana Brightman, Eniolami Dosunmu, Shailja Tibrewal, Savleen Kaur, Anupriya Kaur, Raj Kumar Verma, Alejandra G. de Alba Campomanes, Virginia Utz, Anne M. Slavotinek, Cynthia Curry   +14 more
wiley   +1 more source