Results 41 to 50 of about 1,142,799 (204)
Surgical Management of Moyamoya Syndrome [PDF]
Skull Base, 2005 Moyamoya syndrome, a vasculopathy characterized by chronic progressive stenosis at the apices of the intracranial internal carotid arteries, is an increasingly recognized entity which is associated with cerebral ischemia. Diagnosis is made on the basis of clinical and radiographic findings, including a characteristic stenosis of the internal carotid ...
Edward R, Smith, R Michael, Scott
openaire +2 more sources
Asymptomatic moyamoya syndrome, atlantoaxial subluxation and basal ganglia calcification in a child with Down syndrome [PDF]
Korean Journal of Pediatrics, 2013 Down syndrome, the most common chromosomal abnormality, may be associated with various neurologic complications such as moyamoya syndrome, cervical spinal cord compression due to atlantoaxial subluxation, and basal ganglia damage, as well as epileptic ...
Kyung Yeon Lee +2 more
doaj +1 more source
MRA Diagnosis of Down Syndrome Associated with Moyamoya Syndrome Presenting Multiple Cerebral Infarctions in a 1-year-old Girl [PDF]
, 2007 It is known that various complications are observed in patients with Down syndrome. We report a 1-year-old girl with Down syndrome who developed moyamoya syndrome presenting multiple cerebral infarction. Her chief complaints were recurrent convulsion and
Imataka, George +5 more
core +1 more source
Moyamoya Syndrome in a Patient With Klippel-Trenaunay Syndrome [PDF]
Cureus, 2020 Moyamoya syndrome consists of internal carotid artery stenosis with development of collateral vasculature responsible for ischemic events and cerebral hemorrhage. Moyamoya vasculopathy is commonly treated with external carotid artery to internal carotid artery bypass, either through direct or indirect anastomosis.
Brimley, Cameron +3 more
openaire +2 more sources
Fatal outcome in a Hispanic woman with moyamoya syndrome and Graves’ disease
Endocrinology, Diabetes & Metabolism Case Reports, 2016 We describe the case of a young Hispanic female who presented with thyrotoxicosis with seizures and ischemic stroke. She was diagnosed with a rare vasculopathy – moyamoya syndrome.
Julian Choi +2 more
doaj +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Heterozygous germline variants in CBL disrupt its function as a negative regulator of the Ras/MAPK pathway, classically predisposing to Juvenile myelomonocytic leukemia (JMML) and moyamoya. We describe two affected siblings carrying a paternally inherited CBL variant (c.1210 T> C, p.
Michal Bar‐Hakim +12 more
wiley +1 more source
Genetics and Biomarkers of Moyamoya Disease: Significance of as a Susceptibility Gene [PDF]
Journal of Stroke, 2014 Moyamoya disease is characterized by a progressive stenosis at the terminal portion of the internal carotid artery and an abnormal vascular network at the base of the brain.
Miki Fujimura +6 more
doaj +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Biallelic variants in NSMCE2 (MMS21), which encodes the SUMO E3 ligase subunit of the SMC5/6 chromatin‐maintenance complex, have recently been implicated in microcephalic primordial dwarfism (MPD), corresponding to Seckel syndrome type 10 (OMIM #617246).
Cristina Peduto +5 more
wiley +1 more source
, 2021 Moyamoya syndrome is a chronic and progressive narrowing of the arteries in the brain caused by different mechanisms than the genetic mutation that leads to moyamoya disease.
Elfallal, Samer +5 more
core +1 more source
Immunological Medicine, 2021 Moyamoya syndrome is a cerebrovascular disorder characterized by bilateral stenosis and occlusion of the internal carotid arteries and their branches. A 45-year-old woman with a history of systemic lupus erythematosus was admitted for recurrent ischemic ...
Keiichiro Kadoba +7 more
doaj +1 more source