Results 41 to 50 of about 24,301 (201)

Progressive multifocal leukoencephalopathy restricted to the posterior fossa in a patient with systemic lupus erythematosus

Brazilian Journal of Infectious Diseases
Progressive multifocal leukoencephalopathy is a neurological infectious disease caused by the John Cunningham polyomavirus (JCV), an opportunistic agent with worldwide distribution.
Fabrício Guimarães Gonçalves, Leslie Lamb, Raquel Del Carpio-O'Donovan   +2 more
doaj   +1 more source

Cavitating leukoencephalopathy with multiple mitochondrial dysfunction syndrome and NFU1 mutations

Frontiers in Genetics, 2014
Multiple Mitochondrial Dysfunction Syndrome (MMDS) comprises a group of severe autosomal recessive diseases with onset in early infancy and characterized by a systemic disorder of energy metabolism, resulting in weakness, respiratory failure, lack of ...
Federica eInvernizzi, Anna eArdissone, Eleonora eLamantea, Barbara eGaravaglia, Massimo eZeviani, Laura eFarina, Daniele eGhezzi, Isabella eMoroni   +7 more
doaj   +1 more source

Not All Neonatal Encephalopathies Are due to Perinatal Hypoxia

Dubai Medical Journal, 2023
A late preterm female neonate, born to a consanguineously married couple by normal vaginal delivery and unremarkable family history, was admitted to our NICU soon after birth for management of respiratory distress secondary to meconium aspiration ...
Tushar Kulkarni, Lma Dsougi Hussein Mohamed, Mahmoud El Halik, Fatma Abdulla Mohammad Bastaki   +3 more
doaj   +1 more source

From Interferon Signature to the Clinical Landscape: Type I Interferonopathies

Arthritis &Rheumatology, EarlyView.
Objective TypeI interferonopathies are heterogeneous diseases driven by dysregulated type I interferon (IFN‐I) signaling. Diagnosis is challenging due to clinical/molecular variability and the need for IFN‐I quantification. The aim of this study was to characterize the clinical, immunologic, genetic, molecular profiles of patients with suspected ...
Ismail Yaz, Seza Ozen, Hacer Neslihan Bildik, Canberk Ipsir, Dilara Unal, Saliha Esenboga, Begum Cicek, Mehmet Emin Seker, Fatima Aerts‐Kaya, Seher Sener, Mehmet Orhan Erkan, Hanife Avci, Deniz Cagdas, Ilhan Tezcan   +13 more
wiley   +1 more source

A homozygous mutation of alanyl‐transfer RNA synthetase 2 in a patient of adult‐onset leukodystrophy: A case report and literature review

Brain and Behavior, 2019
Introduction Leukodystrophy is a group of hereditary leukoencephalopathies predominantly affecting the white matter. Multiple genes and mutations have been reported to be associated with this disorder.
Jian‐Yong Wang, Song‐Fang Chen, Hong‐Qiu Zhang, Meng‐Yan Wang, Jian‐Hong Zhu, Xiong Zhang   +5 more
doaj   +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

Adverse Reactions Identified after Approval of Novel Medicines: Analysis of 339 New Molecular Entities and Therapeutic Biologics

Clinical Pharmacology &Therapeutics, EarlyView.
Postmarketing safety surveillance data identify safety issues not identified in preapproval clinical trials. We describe the frequency of new safety issues overall and by labeling section and the relationship of the most commonly added safety issues with the cumulative number of prescriptions dispensed via retail pharmacies.
Ellen Pinnow, Brendan Day, Esther H. Zhou, Corinne Woods, Nana Dwumfour, Jenni Y. Lee, Ilynn Bulatao, Sanae Cherkaoui, Manish Kalaria, Sonja Brajovic, Nabila Sadiq, Farideh Sistani, Maggie Lee, Grace Chai, Gerald Dal Pan   +14 more
wiley   +1 more source

Magnetic resonance imaging in HTLV-I associated myelopathy Ressonância magnética na mielopatia associada ao HTLV-I

Arquivos de Neuro-Psiquiatria, 1993
Magnetic resonance imaging of the brain and spinal cord were carried out for seventeen consecutive patients with HTLV-1 associated myelopathy (HAM). Eight patients had brain abnormalities and four had decreased thoracic spinal cord diameter.
Aílton Melo, Luciana Moura, Solana Rios, Marcos Machado, Gersonita Costa   +4 more
doaj  

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

A Novel Missense Mutation of the CSF1R Gene Causes Incurable CSF1R-Related Leukoencephalopathy: Case Report and Review of Literature

International Journal of General Medicine, 2020
Jie Chen,1 Shiying Luo,1 Ning Li,1 Huimin Li,1 Jinming Han,2 Li Ling1 1Department of Neurology, Affiliated Hospital of Hebei University, Baoding, People’s Republic of China; 2Department of Clinical Neuroscience, Karolinska Institutet, Stockholm ...
Chen J, Luo S, Li N, Li H, Han J, Ling L
doaj