Results 31 to 40 of about 6,054 (170)
, 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
Assessment of patients with a Chiari malformation type I
Brain and Spine, 2022 Introduction: The prevalence of Chiari malformation type I (CM-I) has been estimated as up to 1% of the general population. The majority of patients are asymptomatic and usually do not need treatment.
Sharon Ka Po Tam, BMBS +3 more
doaj +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, EarlyView.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
Indian Journal of Neurosurgery, 2018 Introduction: Chiari malformation type I is a collection of hindbrain abnormalities, for which natural history of the disease process is not clear. The challenge is to identify which patients will benefit most from posterior fossa decompression.
Manish Jaiswal +2 more
doaj +1 more source
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young +6 more
wiley +1 more source
Clinical findings in 415 patients with Chiari malformation type I.
, 2013 Clinical findings in 415 patients with Chiari malformation type I.
Maria A. Poca (381012) +6 more
core +1 more source
Proceedings of Singapore Healthcare, 2019 Type 1 Arnold–Chiari Malformation is associated with prolapse of the cerebellar tonsils into or below the level of the foramen magnum and is usually diagnosed in adults.
Mavis Miqi Teo
doaj +1 more source
Abnormalities in auditory evoked potentials of 75 patients with Arnold-Chiari malformations types I and II [PDF]
Arquivos de Neuro-Psiquiatria, 2006 OBJECTIVE: To evaluate the frequency and degree of severity of abnormalities in the auditory pathways in patients with Chiari malformations type I and II.
Paulo Sergio A. Henriques Filho +1 more
doaj +1 more source
Essential embryology for the Canadian pathologists’ assistant
Anatomical Sciences Education, EarlyView.Abstract Pathologists' assistants (PAs) are pivotal in healthcare, conducting autopsies and examining tissues under a pathologist's guidance. Embryology knowledge is crucial for PAs to accurately assess anomalies and identify pathologies. Yet, it is often overlooked in academic PA training programs.
Samantha H. Nacci +4 more
wiley +1 more source
Idiopathic intracranial hypertension in a patient with Chiari I malformation
, 2015 Recibido 09 diciembre 2013, Aceptado 08 abril 2014Caso clínico: mujer de 22 años que consultó por cefalea y disminución de la visión. Presentaba papiledema asimétrico y, en las pruebas de imagen, un descenso amigdalar de 6mm, siendo diagnosticada de ...
Gegúndez Fernández, José Antonio +6 more
core +1 more source