Results 101 to 110 of about 20,251 (253)

Wernicke’s Encephalopathy Secondary to Hyperemesis Gravidarum in Pregnancy: A Case Report

Clinical Case Reports, Volume 14, Issue 5, May 2026.
ABSTRACT Wernicke's Encephalopathy, although classically associated with chronic alcoholism, can also occur during pregnancy as a complication of hyperemesis gravidarum and is often underdiagnosed. We report a case of a 34‐year‐old pregnant woman at 16 weeks of gestation who presented with prolonged vomiting, altered mental status, nystagmus, and gait ...
Abhishek Mahato, Sameer Parajuli, Bandana Ghimire, Bishal Basnet, Bishal Sigdel, Bishal Kumar Yadav, Sagar Kumar Jha   +6 more
wiley   +1 more source

Aminoacyl‐tRNA Synthetases: Variant Classification, Functional Assays, and Emerging Therapeutic Strategies

Journal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.
ABSTRACT Aminoacyl‐tRNA synthetases (aaRS) are essential enzymes that charge tRNAs with their corresponding amino acids, playing a critical role in protein synthesis. All 37 nuclear‐encoded ARS genes, comprising both cytosolic (ARS1) and mitochondrial (ARS2) isoforms, have now been linked to human disease.
M. I. Mendes, D. E. Smith, V. Spek, A. M. Bosch, W. E. Corpeleijn, M. Engelen, S. A. Fuchs, A. Hadchouel, I. U. Heinemann, R. H. Houtkooper, E. M. M. Hoytema van Konijnenburg, S. Kemp, M. Langeveld, C. D. M. Karnebeek, A. Pop, V. M. Siu, N. I. Wolf, G. S. Salomons   +17 more
wiley   +1 more source

Rotational vertebral artery syndrome: 3D kinematics of nystagmus suggest bilateral labyrinthine dysfunction [PDF]

, 2018
Whether the rotational vertebral artery syndrome (RVAS), consisting of attacks of vertigo, nystagmus and tinnitus elicited by head-rotation induced compression of the dominant vertebral artery (VA), reflects ischemic dysfunction of uni- or bilateral ...
Baumgartner, R., Hegemann, S., Marti, S., Straumann, D., von Büdingen, H.-C   +4 more
core  

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld, Nicole Kasatkin, Bi Liu Yu, Milen Velinov, Justin S. Brandt, Elena Ashkinadze   +5 more
wiley   +1 more source

Congenital aniridia: European COST action ANIRIDIA‐NET guidelines for diagnosis, management and care

Acta Ophthalmologica, Volume 104, Issue 3, Page 267-279, May 2026.
Abstract Congenital aniridia is a rare ocular disorder affecting the majority of eye structures and can be associated with systemic manifestations. The main visible phenotypic characteristic is the partial or complete absence of the iris; however, foveal hypoplasia is a more frequent and reliable clinical sign. Other ocular comorbidities are associated
Davide Romano, Vito Romano, Alejandra Daruich, Giulio Ferrari, Matthieu Robert, Francesco Semeraro, Neil Lagali, Dominique Bremond‐Gignac, the ANIRIDIA‐NET Clinical Guidelines Working Group, Miriam Barbany, Claus Cursiefen, Stefano Ferrari, Francisco Figueiredo, Christina Grupcheva, Jesper Hjortdal, Elke Kreps, Erlend Landsend, Laura Mauring, Hilde Pedersen, Nora Szentmáry, Bogumil Wowra, the Aniridia‐Europa and Geniris Working Group, Sophie Valleix, Juan Álvarez de Toledo, James Lauderdale, Tor Paaske Utheim, Paolo Rama   +26 more
wiley   +1 more source

Opening closed inward rectifier potassium channel doors

British Journal of Pharmacology, Volume 183, Issue 10, Page 2197-2218, May 2026.
Inwardly rectifying potassium (KIR) channels are essential regulators of membrane potential in excitable and non‐excitable tissues. Although KIR channels exhibit a biophysical preference for potassium influx due to voltage‐dependent block of outward current by polyamines and Mg2+, under physiological conditions, they predominantly mediate K+ efflux ...
Anna Stary‐Weinzinger, Fabian Kaiser, Marcel A. G. van der Heyden, Saïd Bendahhou   +3 more
wiley   +1 more source

Retinal Pigment Epitheliopathy due to Sub‐Optimal Recycling of Vitamin A (RESORVA): A Novel RDH11 ‐Related Phenotype

Clinical Genetics, Volume 109, Issue 5, Page 972-977, May 2026.
RDH11 is a minor isoenzyme that catalyses the oxidation of 11‐cis‐retinol to 11‐cis‐retinal in the retinal pigment epithelium, alongside RDH5 and RDH10. Biallelic null variants in RDH11 lead to upregulation of RDH5 and RDH10 (transcriptional adaptation), maintaining 11‐cis‐retinal bioavailability, but still causing Retinal Pigment Epitheliopathy due to
Kirk A. J. Stephenson, Zhuo Shao, Anupreet Tumber, Erika Tavares, Kashif Ahmed, Edward J. Higginbotham, Christian R. Marshall, Jason T. Maynes, Ammaji Rajala, Raju V. S. Rajala, Elise Héon, Ajoy Vincent   +11 more
wiley   +1 more source

Physiology of the visual control system [PDF]

Neurophysiological aspects of eye movement in visual control system with differentiation of version and ...
Kupfer, C., Stark, L., Young, L. R.
core   +1 more source

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

Equine Veterinary Education, Volume 38, Issue 5, Page e235-e242, May 2026.
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

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

Equine Veterinary Journal, Volume 58, Issue 3, Page 736-746, May 2026.
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