Results 61 to 70 of about 32,319 (241)

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  

Minimal residual disease–guided ibrutinib and venetoclax in patients with chronic lymphocytic leukaemia and complex karyotype

British Journal of Haematology, EarlyView.
Minimal residual disease (MRD)–guided ibrutinib and venetoclax (IVen) achieved durable remissions and high undetectable MRD (uMRD) rates in patients with high‐risk chronic lymphocytic leukaemia (CLL). Compared with historical ibrutinib monotherapy, IVen was associated with improved progression‐free and overall survival despite presence of complex ...
Maria Kislova, Elena Dmitrieva, Elena Naumova, Margarita Pochtar, Svetlana Lugovskaya, Yury Kobzev, Alla Loban, Maria Gladysheva, Tatiana Obukhova, Bella Biderman, Andrey Sudarikov, Egor Volchkov, Maria Ivanova, Vadim Ptushkin, Andrea Visentin, Eugene Nikitin   +15 more
wiley   +1 more source

Non‐Syndromic Tumefactive Demyelinating Lesions in the Pediatric Population: Four Case Reports and Review of the Literature

Annals of the Child Neurology Society
Introduction Tumefactive demyelinating lesions (TDLs) are large lesions (> 2 cm) seen in demyelinating syndromes such as multiple sclerosis, myelin oligodendrocyte glycoprotein antibody‐associated disorder, and neuromyelitis optica spectrum disorder ...
Elizabeth C. Ballinger, Hannah F. Todd, Jonathan M. Yarimi, Timothy E. Lotze, Nikita M. Shukla, Kristen S. Fisher, Alexander J. Sandweiss   +6 more
doaj   +1 more source

Identification of Copy Number Variants as a Suspected Cause of Cerebral Small Vessel Disease

Clinical Genetics, EarlyView.
Whole‐exome sequencing of 111 patients with suspected familial cerebral small vessel disease (CSVD) identified novel copy number variants in four patients across NOTCH3, LMNB1, and COL4A2, using bioinformatic and molecular techniques. These validated CNVs suggest structural variation is an underrecognized potential causal contributor to monogenic CSVD ...
Solomon K. Guyler, Neven Maksemous, Rodney A. Lea, Robert A. Smith, Heidi G. Sutherland, Lyn R. Griffiths   +5 more
wiley   +1 more source

Progressive cavitating leukoencephalopathy associated with a homozygous POLG mutation of 264C>G (p.F88L)

Radiology Case Reports, 2020
Progressive cavitating leukoencephalopathy is a childhood neurodegenerative syndrome characterized by brain MR imaging findings of patchy leukoencephalopathy with cavities and vascular permeability, initially affecting the corpus callosum and centrum ...
Austin Shinagawa, BS, Stephen Hugdal, MD, Jay Babu, Rajesh Rangaswamy, MD   +3 more
doaj   +1 more source

Inborn errors of immunity in children with neuroinflammation

Developmental Medicine &Child Neurology, EarlyView.
Abstract Inborn errors of immunity (IEIs), an expanding group of monogenic disorders with diverse clinical manifestations, are increasingly recognized to include neuroinflammatory disease. Examples of diseases included under this umbrella are Aicardi–Goutières syndrome, deficiency of adenosine deaminase 2, familial haemophagocytic lymphohistiocytosis ...
Eppie M Yiu, Dilan Dissanayake, Jessie Cunningham, Helen Branson, Ori Scott, E Ann Yeh   +5 more
wiley   +1 more source

Multifocal Leukoencephalopathy

, 1994
A 15-year-old boy with Wiskott-Aldrich syndrome complicated by progressive multifocal leukoencephalopathy (PML) is reported from the University of Miami School of Medicine, FL, and the National Institute of Neurological Disorders and Stroke, Bethesda ...
J Gordon Millichap
core   +1 more source

Confluent Thalamic Hyperintensities in CADASIL [PDF]

, 2010
Background: CADASIL is responsible for diffuse hyperintensities in the white matter on FLAIR images. These lesions are often associated with focal lesions in the basal ganglia such as lacunar infarctions.
Jacqmin, Mathilde, Viswanathan, Anand, Marco During, Jean-Pierre Guichard, Dichgans, Martin, Martin Dichgans, Herve, Dominique, Düring, Marco, Dominique Hervé, Anand Viswanathan, Guichard, Jean-Pierre, Chabriat, Hugues, Mathilde Jacqmin, Hugues Chabriat   +13 more
core   +1 more source

Adult‐onset CD8‐predominant hemispheric inflammatory epilepsy: Expanding the spectrum of post‐infectious and Rasmussen‐like encephalitis

Epileptic Disorders, EarlyView.
Ramya Raghupathi
wiley   +1 more source

Distinct patterns of white matter hyperintensity and cortical thickness of CSF1R-related leukoencephalopathy compared with subcortical ischemic vascular dementia.

PLoS ONE
BackgroundCSF1R-related leukoencephalopathy is a type of autosomal dominant leukodystrophy caused by mutations in the colony stimulating factor 1 receptor (CSF1R) gene.
Seung Joo Kim, Wanzee Cho, Hee Jin Kim, Duk L Na, Sang Won Seo, Na-Yeon Jung, Jae-Hyeok Lee, Myung Jun Lee, Heeyoung Kang, Joon-Kyung Seong, Eun-Joo Kim   +10 more
doaj   +1 more source