Results 151 to 160 of about 4,691,212 (288)

Circumscribed Meningeal Melanocytic Neoplasms: CNS WHO Grade, Molecular Profile, and Clinical Outcomes

Brain Pathology, EarlyView.
In this study including 31 circumscribed meningeal melanocytic neoplasms (melanocytoma, intermediate‐grade melanocytic tumor [IMT], and melanoma), overall survival (OS) differed significantly among the groups, with melanoma showing significantly worse OS than melanocytoma and IMT showing intermediate OS between melanocytoma and melanoma.
Yi Zhu, Nishika Karbhari, Timothy J. Kaufmann, Aditya Raghunathan, Cristiane M. Ida, Cinthya J. Zepeda‐Mendoza, Ian J. Dryden, Shahriar Salamat, Chathu Atherton, Sarah M. Jenkins, Svetomir N. Markovic, Ugur T. Sener, Caterina Giannini   +12 more
wiley   +1 more source

Chronic traumatic encephalopathy in a neuropathologically confirmed Creutzfeldt–Jakob disease cohort

Brain Pathology, EarlyView.
Systematic neuropathological screening of 212 patients with Creutzfeldt–Jakob disease (55% women) identified chronic traumatic encephalopathy in three cases (1.4%), all men with a history of contact sports. These findings represent the first neuropathologically confirmed chronic traumatic encephalopathy cases reported in Spain.
Lluc Bertran, Iban Aldecoa, Arlène Sindikubwabo, Núria Vidal, Rafael Blesa, Mercè Martínez‐Corral, Carlos Nos, Verónica Santiago, Andrea González, Álex Iranzo, Christopher J. Nowinski, Ann C. McKee, Raquel Sánchez Valle, Laura Molina‐Porcel   +13 more
wiley   +1 more source

The characteristics of perivascular proinflammation in 4‐repeat tauopathies

Brain Pathology, EarlyView.
The spatial distribution of perivascular proinflammation differs between PSP and CBD: PSP shows a predominance in basal ganglia (BG), whereas CBD demonstrates more widespread involvement of both BG and superior/middle frontal gyrus (S/M‐FG). PSP exhibits profound proinflammatory activation around venules while CBD affects a comparable magnitude around ...
Mu‐Hui Fu, Gokhan Uruk, Rodolfo G. Gatto, R. Ross Reichard, Jennifer L. Whitwell, Keith A. Josephs   +5 more
wiley   +1 more source

Diagnostic Yield of Brain MRI in Pediatric Short Stature: Hypothalamic–Pituitary Lesions and Incidental Findings in Real‐World Practice

Clinical Endocrinology, EarlyView.
ABSTRACT Background Brain MRI is widely performed in children with short stature or suspected growth hormone deficiency(GHD) to exclude hypothalamic–pituitary (HP) pathology, yet its diagnostic yield in routine practice is uncertain. We aimed to evaluate the prevalence, clinical significance, and distribution of HP and extrahypothalamic abnormalities ...
Mustafa Zubeidat, Tamer Sobeh, Shai Shrot   +2 more
wiley   +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

Early tocilizumab and outcomes in acute necrotizing encephalopathy

Developmental Medicine &Child Neurology, EarlyView.
Early tocilizumab and outcome in acute necrotising encephalopathy. Aim To evaluate the timing and safety of tocilizumab in acute necrotizing encephalopathy (ANE). Method This was a multicentre retrospective study evaluating outcomes (modified Rankin Scale [mRS]) in children with ANE treated with tocilizumab. A logistic regression model determined a cut‐
Velda X Han, Prithuja Poudyal, Vanessa Lee, Arushi Gahlot Saini, Shekeeb S Mohammad, Sekhar C Pillai, Gouri Rao Passi, Naveen Sankhyan, Ahmad Rithauddin Mohamed, Lokesh Lingappa, Hiroshi Sakuma, Russell C Dale, Ming Lim, Terrence Thomas, for The International ANE Study Group   +14 more
wiley   +1 more source

RLIM‐associated neurodevelopmental disorders: From clinical spectrum to molecular mechanisms

The FEBS Journal, EarlyView.
RLIM (RNF12) is an E3 ubiquitin ligase essential for mammalian development. Loss‐of‐function variants cause Tønne–Kalscheuer syndrome, while duplications cause Xq13 duplication syndrome, highlighting RLIM dosage sensitivity. This review summarizes the genetics, clinical features, and molecular mechanisms of RLIM‐associated disorders, integrating ...
Madison Landon, Kyra Swildens, Vera M. Kalscheuer, Cristina Gontan, Francisco Bustos   +4 more
wiley   +1 more source

Expanding the Clinical Spectrum of DHX30‐Related Neurodevelopmental Disorder: A Case Report and a Scoping Review

Journal of Intellectual Disability Research, EarlyView.
ABSTRACT Background Whole exome sequencing (WES) has improved diagnostic rates for neurodevelopmental disorders (NDDs) while introducing challenges in novel variant interpretation. DHX30‐related NDD (DHX30‐NDD) is a recently described condition with an evolving phenotypic spectrum.
Nattaporn Tassanakijpanich, Areerat Hnoonual, Oradawan Plong‐On, Pornprot Limprasert   +3 more
wiley   +1 more source

Associations between White Matter Hyperintensities and β Amyloid on Integrity of Projection, Association, and Limbic Fiber Tracts Measured with Diffusion Tensor MRI

, 2013
The goal of this study was to assess the relationship between Aβ deposition and white matter pathology (i.e., white matter hyperintensities, WMH) on microstructural integrity of the white matter.
Weiner, Michael
core   +1 more source

Recognizing Signs of Abusive Head Trauma

Journal of Paediatrics and Child Health, EarlyView.
ABSTRACT Background Abusive head trauma (AHT) remains the leading cause of fatal traumatic brain injury in infants and young children. Diagnosis is frequently delayed or missed due to nonspecific clinical presentation and unreliable histories, making neuroimaging a critical component of the diagnostic process. Objective This review synthesises computed
Maísa Naomi Irie, Vinicius de Menezes Jarry, Matheus de Lima Ruffini, Adolfo Moraes de Souza, Mariana Dalaqua, Juliana Ávila Duarte, Andrea Fraga, Fabiano Reis   +7 more
wiley   +1 more source