Results 61 to 70 of about 27,985,342 (173)
Coexistence of Psychiatric Symptoms and Chiari Type I Malformation - A Case Report
, 2018 Chiari type I malformation has been described infrequently in association with defined psychiatric syndromes. Method: There is a limited literature about obsessions in comorbidity with Chiari malformation.
Voltisa Lama
core +1 more source
Endocrinology Research and Practice, 2022 Type I Chiari malformations consist of herniation of the cerebellar tonsils through the foremen magnum and present with a variety of symptoms and signs described previously but hemiathrophy of extremities and hypothalamic hypogonadism are not ...
Ramazan Sarı +3 more
doaj +2 more sources
Brain Science Advances, 2023 Objective: To investigate the clinical efficacy of minimally invasive subpial tonsillectomy (MIST) in the treatment of Chiari malformation (type I) with syringomyelia.
Hao Li, Zhiqiang Cui, Yong Liu
doaj +1 more source
The Lupus Damage Index Revision Program: Results From the Item Generation and Reduction Phases
Arthritis Care &Research, Volume 78, Issue 10, Page 1449-1466, October 2026.Objective A data‐driven and expert/patient consensus‐based project to develop a revised Systemic Lupus International Collaborating Clinics (SLICC)/American College of Rheumatology (ACR) Damage Index (SDI) is under way supported by SLICC, ACR, and the Lupus Foundation of America. Our objective is to report the item generation and reduction phase results
Burak Kundakci +25 more
wiley +1 more source
Interdisciplinary Neurosurgery, 2018 This was a retrospective study of 10 Chiari Malformation type I patients who were treated by the author since 2010–2016. This study aims to elucidate the benefit of modified foramen magnum decompression by preserving the bone as propose upside down ...
G.B. Mahadewa Tjokorda +1 more
doaj +1 more source
A frontal lobe mass in a 6‐year‐old girl
Brain Pathology, EarlyView.
Francesca S. Vacca +5 more
wiley +1 more source
American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2331-2337, October 2026.ABSTRACT Fanconi Anemia (FA) is the most frequent inherited bone marrow failure syndrome. A role for the XRCC2 gene in FA was suspected in 2012 and confirmed in 2016, but only two affected individuals have been described thus far, and no long‐term follow‐up is available.
Sabina Cenciarelli +11 more
wiley +1 more source
Symptomatic Chiari I malformation in Kabuki syndrome
, 2005 Kabuki (Niikawa-Kuroki) syndrome is associated with a characteristic facial appearance, cleft palate, congenital heart defects, and developmental delay. Structural brain anomalies have only occasionally been described in Kabuki syndrome.
Donnai, Dian +11 more
core +1 more source
Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review
American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2396-2404, October 2026.ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
wiley +1 more source
, 2019 A syndrome of multiple paragangliomas/pheochromocytomas, somatostatinoma, and polycythemia due to somatic mosaic gain-of-function mutation of EPAS1, encoding HIF-2α, was previously described.
Pang, Ying +19 more
core +1 more source