Results 81 to 90 of about 9,547 (174)

Early neurodevelopmental outcome in newborns with mild hypoxic‐ischaemic encephalopathy

Developmental Medicine &Child Neurology, Volume 68, Issue 9, Page 1261-1268, September 2026.
Abstract Aim To describe the natural history of newborn children with mild hypoxic‐ischaemic encephalopathy in the first year of life. Method This was a multicentre, prospective observational study involving five neonatal intensive care units in an Italian region using both structured clinical and neurophysiological assessments according to the Italian
Domenico M. Romeo, Chiara Arpaia, Angelo Di Malta, Elisa Pede, Grazia Maria Cicala, Daniela Ricci, Francesca Serrao, Eugenio Mercuri, Claudia Brogna, Mild Encephalopathy Regional Network*, Giovanni Vento, Chiara Cafforio, Eleonora Scapillati, Roberta Arena, Francesca Gallini, Vita Augusta, Andrea Guzzetta   +16 more
wiley   +1 more source

Boy in the Barrel: Excruciating Paroxysmal Pain Disorder Associated With an SCN9A Gain‐of‐Function Variant

Journal of the Peripheral Nervous System, Volume 31, Issue 3, September 2026.
ABSTRACT Background and Aims Gain‐of‐function variants in SCN9A, encoding the Nav1.7 sodium channel, cause inherited painful neuropathic disorders. We report a young man with severe childhood‐onset heat‐triggered paroxysmal pain, autonomic dysfunction, skeletal abnormalities, and a de novo SCN9A p.Ile234Thr variant, emphasizing the diagnostic and ...
Pedro Jose Tomaselli, Rodrigo Siqueira Soares Frezatti, Christopher J. Record, Maria Cristina Lopes Schiavoni, Natalia Dominik, Jana Vandrovcova, Mary M. Reilly, Wilson Marques Jr   +7 more
wiley   +1 more source

Neuropathy With Demyelinating Features in a Patient With Biallelic HARS1 Variants

Journal of the Peripheral Nervous System, Volume 31, Issue 3, September 2026.
ABSTRACT Background and Aims The HARS1 gene encodes cytoplasmic histidyl‐tRNA synthetase, which catalyzes the ligation of histidine to tRNAHIS in the cytoplasm as an early step in protein biosynthesis and is essential for cell viability. Pathogenic variants in HARS1 have been associated with three phenotypes: autosomal dominant Charcot–Marie–Tooth (CMT)
Christina Del Greco, Allison R. Cale, Karl Haeberlein, Anthony Antonellis, Michael E. Shy, Tiffany Grider   +5 more
wiley   +1 more source

Pre‐Imaging Clinical Factors Associated With Cardiac MR Image Quality Using Large Language Model‐Enabled Data Extraction

Journal of Magnetic Resonance Imaging, Volume 64, Issue 2, Page 565-578, August 2026.
ABSTRACT Background Poor cardiac MR image quality can prompt repeat examinations and hinder clinical decision‐making. Purpose To evaluate whether pre‐imaging clinical information, extracted using a large language model (LLM), is independently associated with cardiac MR image quality. Study Type Retrospective.
Hong Yu, Masha Bondarenko, Ali Nowroozi, Yoo Jin Lee, Adrian Serapio, Punita Kaveti, Jae Ho Sohn   +6 more
wiley   +1 more source

Investigation of congenital tremor associated with Classical swine fever virus genotype 2.2 in an organized pig farm in north-eastern India. [PDF]

Virusdisease, 2021
Barman NN, Khatoon E, Bora M, Deori L, Gogoi SM, Kalita D.   +5 more
europepmc   +1 more source

Patient outcomes in KCNQ2 developmental and epileptic encephalopathy

Developmental Medicine &Child Neurology, Volume 68, Issue 8, Page 1063-1071, August 2026.
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

Pellagra in Contemporary Clinical Practice (2000–2023): A Systematic Review

International Journal of Dermatology, Volume 65, Issue 8, Page 1590-1599, August 2026.
This systematic review (2000–2023) of 1212 cases highlights pellagra's evolving etiology. While primary dietary deficiency (85%) persists in humanitarian crises, secondary forms from alcohol misuse (9.6%), isoniazid (14.3% of drug‐related cases), and malabsorption are rising.
Noureddine Litaiem, Karama Sboui, Faten Zeglaoui   +2 more
wiley   +1 more source

Expanding the clinical phenotype associated with an ASXL1 pathogenic variant causing a novel neuromuscular disorder with neurodevelopmental features

BMJ Neurology Open
Background Germline pathogenic variants in the Additional Sex Combs-Like 1 (ASXL1) gene are associated with the neurodevelopmental Bohring-Opitz syndrome and cancers like Wilms’ tumours.
Nicholas Chia, Roula Ghaoui, Bing Wu, Dominic Spicer, Kathryn Friend   +4 more
doaj   +1 more source

Tremors in cats with hepatic encephalopathy‐congenital portosystemic shunts or postattenuation neurological syndrome

Veterinary Record
Abstract Background Tremors have been reported as a neurological sign in cats with hepatic encephalopathy due to congenital portosystemic shunts (HE‐CPSS) or postattenuation neurological syndrome (PANS).
Theofanis Liatis, Sofie F. M. Bhatti, Barbara Glanemann, Steven De Decker   +3 more
openaire   +2 more sources

Isolation and Phylogenetic Analysis of Atypical Porcine Pestivirus Isolates Identified in Russian Swine Herds

Viruses
Atypical porcine pestivirus (APPV) was first identified in 2015 in North America by high-throughput sequencing. APPV is associated with congenital tremor A-II and is widely distributed worldwide.
Afshona Anoyatbekova, Anton Yuzhakov
doaj   +1 more source