Results 81 to 90 of about 109,019 (287)

Super‐Refractory Status Epilepticus (SRSE) in a Patient With Compound Heterozygous OPA1 Variants: Case Report and Literature Review

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Super‐Refractory Status Epilepticus (SRSE) is a rare, life‐threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease‐causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms.
Pouria Mohammadi, Lara Basovic, Christopher Michael McGraw   +2 more
wiley   +1 more source

A fine‐scale examination of parturition timing in temperate ungulates

Ecology and Evolution
Parturition timing has long been a topic of interest in ungulate research. However, few studies have examined parturition timing at fine scale (e.g.,
Matthew T. Turnley, Tabitha A. Hughes, Randy T. Larsen, Kent R. Hersey, Matthew S. Broadway, M. Colter Chitwood, W. Sue Fairbanks, Robert C. Lonsinger, Brock R. McMillan   +8 more
doaj   +1 more source

Characterization of Clinical Phenotype to Glial Fibrillary Acidic Protein Concentrations in Alexander Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To determine the concentration of glial fibrillary acidic protein (GFAP) in cerebrospinal fluid (CSF) and plasma in Alexander disease (AxD) and whether GFAP levels are predictive of disease phenotypes. Methods CSF and plasma were collected (longitudinally when available) from AxD participants and non‐AxD controls.
Amy T. Waldman, Asako Takanohashi, Joshua Y. Joung, Geraldine W. Liu, Kaley Arnold, Amy Pizzino, Walter Faig, Sarah Woidill, Sona Narula, Adeline L. Vanderver   +9 more
wiley   +1 more source

Clinically Relevant Outcome Measures in Women With Adrenoleukodystrophy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Adrenoleukodystrophy is a rare inherited peroxisomal disease caused by pathogenic variants in the ABCD1 gene located on the X chromosome. Although the most severe central nervous system and adrenal complications typically affect only men with adrenoleukodystrophy, the majority of women develop myeloneuropathy symptoms in adulthood.
Chenwei Yan, Elizabeth I. Pierpont, Amena S. Fine, Reena V. Kartha   +3 more
wiley   +1 more source

CARACTERÍSTICAS DO PARTO E INVOLUÇÃO UTERINA EM OVELHAS NATIVAS DO PANTANAL BRASILEIRO

Ciência Animal Brasileira, 2013
The aim of this study was to describe aspects of the parturition and uterine involution in native sheep from Brazilian Pantanal. Fifty-seven pluriparous ewes were used in this study.
Carlos E. Fernandes, Cristiane Fabiane Cigerza, Guilherme dos Santos Pinto, Cesar Miazi, Marcos Barbosa-Ferreira, Charles Ferreira Martins   +5 more
doaj   +1 more source

Headache following parturition

Journal of Obstetrics and Gynaecology, 2000
The incidence of headache following childbirth in 226 Nigerian women is 24.3% (n=55) or one in four births. Headache was more prevalent among women aged between 21 and 30 years (n=44); those of social class 3-5 (n=50); and also increased incidence with increasing parity, although these relationships did not reach significance.
J I, Adinma, A O, Agbai
openaire   +2 more sources

Pre-term pre-labour rupture of membranes and the role of amniocentesis [PDF]

, 2010
Pre-labour premature rupture of membranes (PPROM) is defined as rupture of membranes more than 1 hour prior to the onset of labour at
Abi-Nader, KN, Kenyon, AP, Pandya, PP
core   +1 more source

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

Transplacental transmission of field and rescued strains of BTV-2 and BTV-8 in experimentally infected sheep [PDF]

, 2013
Transplacental transmission of bluetongue virus has been shown previously for the North European strain of serotype 8 (BTV-8) and for tissue culture or chicken egg-adapted vaccine strains but not for field strains of other serotypes.
Bellacicco, A., Belsham, G.J., Bøtner, A., Caporale, M., Lorusso, A., Palmarini, M., Rasmussen, L., Rasmussen, T., Savini, G.   +8 more
core   +3 more sources

Onasemnogene Abeparvovec in Type I Spinal Muscular Atrophy: 24‐Month Follow‐Up From the Italian Registry

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Onasemnogene abeparvovec (OA) is an AAV9‐based gene therapy for spinal muscular atrophy type I (SMA I). Real‐world outcomes show increased response variability compared to clinical trials, and follow‐up data beyond 12–18 months are limited.
Marika Pane, Giorgia Coratti, Chiara Cutrì, Antonio Varone, Riccardo Masson, Adele D'Amico, Valeria Sansone, Sonia Messina, Federica Ricci, Chiara Ticci, Claudio Bruno, Caterina Agosto, Francesca Benedetti, Antonella Pini, Sabrina Siliquini, Massimiliano Filosto, Alberto Zambon, Ilaria Bitetti, Maria Rosaria Manna, Claudia Dosi, Riccardo Zanin, Stefano Parravicini, Roberto De Sanctis, Giulia Stanca, Michela Catteruccia, Michele Tosi, Irene Mizzoni, Emilio Albamonte, Valentina Franchino, Maria Sframeli, Ilaria Cavallina, Elena Procopio, Michele Sacchini, Simone Morando, Noemi Brolatti, Federica Trucco, Gaia Scarpini, Elena Briganti, Beatrice Berti, Concetta Palermo, Daniela Leone, Stefano C. Previtali, Eugenio Mercuri, the ITASMAC working group   +43 more
wiley   +1 more source