Results 31 to 40 of about 23,690 (177)

Central and Extrapontine Myelinolysis Affecting the Brain and Spinal Cord. An Unusual Presentation of Pancreatic Encephalopathy

Frontiers in Neurology, 2012
: Pancreatic encephalopathy refers to a gamut of neuropsychiatric symptoms complicating acute pancreatitis. Osmotic myelinolisis is a known complication of pancreatic encephalopathy.
Jose eBiller, Alejandro eHornik, Federico eRodriguez-Porcel, Caroline eAgha, Murray eFlaster, Sarkis Gibran eMorales Vidal, Michael J Schneck, John eLee   +7 more
doaj   +1 more source

Generation of a heterozygous and a homozygous CSF1R knockout line from iPSC using CRISPR/Cas9

Stem Cell Research, 2023
Mutations in Colony-stimulating factor 1 receptor (CSF1R) lead to CSF1R-related leukoencephalopathy, also known as Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP), a rapidly progressing neurodegenerative disease with ...
Anne S. Schmitz, Milena Korneck, Janani Raju, Andrés Lamsfus-Calle, Alberto Daniel-Moreno, Justin S. Antony, Markus Mezger, Ludger Schöls, Stefan Hauser, Stefanie N. Hayer   +9 more
doaj   +1 more source

A Depolarizing Leak in Sodium Bicarbonate Cotransporter NBCe1 Causes Brain Edema

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives SLC4A4 encodes electrogenic sodium bicarbonate cotransporter NBCe1, prominently expressed in kidney and brain. Recessive loss‐of‐function variants in SLC4A4 cause proximal renal tubular acidosis, no brain edema. In the brain, NBCe1 is expressed by astrocytes, where it regulates pH and mediates astrocyte volume changes.
Quinty Bisseling, Mark D. Parker, Sven Kerst, Richard A. Pasternack, Jacob Tondreau, Marjolein Breur, Gemma M. van Rooijen‐van Leeuwen, Davide Tonduti, Ettore Salsano, Alejandra Darling, Joanna A. E. van Wijk, Susanna Törnroth‐Horsefield, Marianna Bugiani, Petra J. W. Pouwels, Quinten Waisfisz, Marjo S. van der Knaap, Rogier Min   +16 more
wiley   +1 more source

MRI in Chemotherapy induced Leukoencephalopathy: Report of Two Cases and Radiologist’s Perspective [PDF]

Journal of Clinical and Diagnostic Research, 2017
Leukoencephalopathy is a progressive white matter disease primarily caused due to myelin damage by a variety of factors. Chemotherapy for oncological treatment is an uncommon but important cause of potentially reversible leukoencephalopathy. In current
Geetika Sindhwani, Manali Arora, Vishal Dhirenbhai Thakker, Abhinav Jain   +3 more
doaj   +1 more source

Expanding the Phenotype of TUFM‐Related Combined Oxidative Phosphorylation Deficiency 4

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Combined oxidative phosphorylation deficiency 4 (COXPD4) is a rare mitochondrial condition caused by biallelic deleterious variants in the nuclear‐encoded gene TUFM. To date, most individuals with COXPD4 have presented with encephalopathy, hypotonia, and abnormal brain imaging. Many of the reported individuals died in infancy. We aim to expand
Noémie Villeneuve‐Cloutier, Jodi Warman‐Chardon, Danielle K. Bourque   +2 more
wiley   +1 more source

Early‐stage health technology assessment of a curative gene therapy for multiple sclerosis

British Journal of Clinical Pharmacology, EarlyView.
Aims Multiple sclerosis (MS) is associated with significant early morbidity, reduced life expectancy and substantial healthcare and societal costs. The primary objective of this study is to assess the early cost‐effectiveness potential of a novel gene therapy, IMMUTOL, for MS compared with current high‐efficacy treatment sequences.
Attila Imre, Balázs Nagy, Rok Hren
wiley   +1 more source

COVID-19-associated leukoencephalopathy in the absence of severe hypoxia with subsequent improvement: a case report

BMC Infectious Diseases, 2022
Background Several cases of coronavirus disease 2019 (COVID-19)-associated leukoencephalopathy have been reported. Although most cases involve hypoxia, the pathophysiological mechanism and neurologic outcomes of COVID-19-associated leukoencephalopathy ...
Hiroki Kojima, Naoya Sakamoto, Atsushi Kosaka, Masayoshi Kobayashi, Mitsuo Amemiya, Takuya Washino, Yusuke Kuwahara, Takuto Ishida, Mayu Hikone, Satoshi Miike, Tatsunori Oyabu, Sentaro Iwabuchi, Fukumi Nakamura-Uchiyama   +12 more
doaj   +1 more source

Ocrelizumab‐induced colitis: VigiBase disproportionality analysis, case reports and literature review

British Journal of Clinical Pharmacology, EarlyView.
Aims Ocrelizumab is a humanized anti‐CD20 monoclonal antibody used in multiple sclerosis. Since its commercialization, several cases of ocrelizumab‐induced colitis have been reported in the scientific literature. Methods To explore the potential association of ocrelizumab with colitis as an adverse drug reaction (ADR), we conducted a descriptive and ...
Audrey Fresse, Christophe Hommel, Nadine Petitpain, Philippe Kerschen   +3 more
wiley   +1 more source

An Out-of-Place Etiology: Recognizing FMR1 Premutation in the Memory Clinic. [PDF]

Ann Clin Transl Neurol
ABSTRACT The FMR1 gene premutation (55–200 CGG repeats) is usually associated with a wide range of symptoms and phenotypes within the Fragile X‐tremor/ataxia syndrome (FXTAS), but may also manifest as predominant or isolated cognitive decline. We describe three male patients referred for progressive cognitive impairment and behavioral changes. Standard
Greco G, Motta C, Marchionni E, D'Apice MR, Carrese C, Novelli G, Martorana A, Bonomi CG.   +7 more
europepmc   +2 more sources

Spike detection in the wild: Screening of suspected temporal lobe epilepsy cases using a tailored 2‐channel wearable EEG

Epilepsia Open, EarlyView.
Abstract Objective To clinically validate the contribution of a custom‐built EEG wearable device (waEEG) compared to a full 10–20 electrode array ambulatory EEG (aEEG) for screening epilepsy cases in patients with suspected temporal lobe epilepsy (TLE) but negative routine EEGs. Methods Patients (aged 16–91 years) with clinically suspected TLE who were
Daniel Filipe Borges, Joana Isabel Soares, Daniela Dias, Helena Cordeiro, Alberto Leal   +4 more
wiley   +1 more source