Down syndrome associated moyamoya may worsen epilepsy control and can benefit from surgical revascularization.
Ontology highlight
ABSTRACT:
SUBMITTER: Garson SR
PROVIDER: S-EPMC6305662 | biostudies-other | 2019
REPOSITORIES: biostudies-other
Publications
Down syndrome associated moyamoya may worsen epilepsy control and can benefit from surgical revascularization.
Garson Sarah R SR Monteith Stephen J SJ Smith Sheila D SD Keogh Bart P BP Gwinn Ryder P RP Doherty Michael J MJ
Epilepsy & behavior case reports 20181009
<h4>Objectives</h4>To examine outcome of bilateral extracranial to intracranial (EC-IC) bypass surgeries for a Down syndrome patient with hard-to-treat epilepsy and moyamoya.<h4>Materials and methods</h4>Superficial temporal arteries were anastamosed using an indirect bypass technique to middle cerebral arteries bilaterally to help limit perfusion deficits and seizure controls.<h4>Results</h4>Two superficial temporal to middle cerebral artery indirect bypass surgeries were performed within 3 mon ...[more]
Similar Datasets
Project description:Objective: To determine if elevated rates of autoimmune disease are present in children with both Down syndrome and moyamoya disease given the high rates of autoimmune disease reported in both conditions and unknown etiology of angiopathy in this population. Methods: A multi-center retrospective case-control study of children with Down syndrome and moyamoya syndrome, idiopathic moyamoya disease, and Down syndrome without cerebrovascular disease was performed. Outcome measures included presence of autoimmune disease, presence of autoantibodies and angiopathy severity data. Comparisons across groups was performed using the Kruskal-Wallis, χ2 and multivariate Poisson regression. Results: The prevalence of autoimmune disease were 57.7, 20.3, and 35.3% in persons with Down syndrome and moyamoya syndrome, idiopathic moyamoya disease, and Down syndrome only groups, respectively (p < 0.001). The prevalence of autoimmune disease among children with Down syndrome and moyamoya syndrome is 3.2 times (p < 0.001, 95% CI: 1.82-5.58) higher than the idiopathic moyamoya group and 1.5 times (p = 0.002, 95% CI: 1.17-1.99) higher than the Down syndrome only group when adjusting for age and sex. The most common autoimmune diseases were thyroid disorders, type I diabetes and Celiac disease. No individuals with idiopathic moyamoya disease had more than one type of autoimmune disorder while 15.4% of individuals with Down syndrome and moyamoya syndrome and 4.8% of individuals with Down syndrome only had >1 disorder (p = 0.05, 95%CI: 1.08-6.08). Interpretation: This study reports elevated rates of autoimmune disease in persons with Down syndrome and moyamoya syndrome providing a nidus for study of the role of autoimmunity in angiopathy in this population.
| S-EPMC8455812 | biostudies-literature
Project description:Recent development of magnetic resonance (MR) imaging has shown that silent microbleeds can be observed in a certain subgroup of adult patients with moyamoya disease. The patients with microbleeds are at higher risk for hemorrhagic stroke. However, the beneficial effects of surgical revascularization have not been established in asymptomatic patients with moyamoya disease. The authors present a case that underwent surgical revascularization for asymptomatic moyamoya disease because the number of silent microbleeds increases on serial MR examinations.A 61-year-old female was referred to our hospital because of nonspecific headache. T2-weighted MR imaging revealed silent microbleeds in the corpus callosum. She was diagnosed as moyamoya disease on cerebral angiography. She was conservatively followed up, however, de novo microbleeds developed in the right temporal and frontal lobes on follow-up MR imaging 6 months later. Superficial temporal artery to middle cerebral artery (STA-MCA) anastomosis and indirect bypass were performed on the right side to prevent hemorrhagic stroke. Postoperative course was uneventful. Follow-up cerebral angiography performed 10 months after surgery showed a marked development of surgical collateral through both direct and indirect bypass and the diminishment of moyamoya vessels. For the last 7 years after surgery, she is free from any cerebrovascular events, and serial MR examinations revealed no further development of de novo microbleeds.Surgical revascularization may be useful to reduce the moyamoya vessels and prevent cerebrovascular events in a certain subgroup of patients with asymptomatic moyamoya disease, although its universal benefits on asymptomatic moyamoya disease have not been established yet.
| S-EPMC5473085 | biostudies-other
Project description:Moyamoya is a cerebrovascular disorder characterized by progressive stenosis of the intracranial internal carotid arteries. There are two forms: Disease and Syndrome, with each characterized by the sub-population it affects. Moyamoya syndrome (MMS) is more prominent in adults in their 20's-40's, and is often associated with autoimmune diseases. Currently, there are no surgical models for inducing moyamoya syndrome, so our aim was to develop a new animal model to study this relatively unknown cerebrovascular disease. Here, we demonstrate a new surgical technique termed internal carotid artery stenosis (ICAS), to mimic MMS using micro-coils on the proximal ICA. We tested for Moyamoya-like vasculopathies by fluorescently labelling the mouse cerebrovasculature with Di I for visualization and analysis of vessel diameter at the distal ICA and anastomoses on the cortical surface. Results show a significant narrowing of the distal ICA and anterior cerebral artery (ACA) in the Circle of Willis, as observed in humans. There is also a significant decrease in the number of anastomoses between the middle cerebral artery (MCA) and the ACA in the watershed region of the cortex. While further characterization is needed, this ICAS model can be applied to transgenic mice displaying co-morbidities as observed within the Moyamoya syndrome population, allowing a better understanding of the disease and development of novel treatments.
| S-EPMC5764405 | biostudies-literature
Project description:AIMS:The landmark STICH trial found that surgical revascularization compared to medical therapy alone improved survival in patients with heart failure (HF) of ischaemic aetiology and an ejection fraction (EF) ≤ 35%. However, the interaction between the burden of medical co-morbidities and the benefit from surgical revascularization has not been previously described in patients with ischaemic cardiomyopathy. METHODS AND RESULTS:The STICH trial (ClinicalTrials.gov Identifier: NCT00023595) enrolled patients ≥ 18 years of age with coronary artery disease amenable to coronary artery bypass grafting (CABG) and an EF ≤ 35%. Eligible participants were randomly assigned 1:1 to receive medical therapy (MED) (n = 602) or MED/CABG (n = 610). A modified Charlson co-morbidity index (CCI) based on the availability of data and study definitions was calculated by summing the weighted points for all co-morbid conditions. Patients were divided into mild/moderate (CCI 1-4) and severe (CCI ≥ 5) co-morbidity. Cox proportional hazards models were used to evaluate the association between CCI and outcomes and the interaction between severity of co-morbidity and treatment effect. The study population included 349 patients (29%) with a mild/moderate CCI score and 863 patients (71%) with a severe CCI score. Patients with a severe CCI score had greater functional limitations based on 6-min walk test and impairments in health-related quality of life as assessed by the Kansas City Cardiomyopathy Questionnaire. A total of 161 patients (Kaplan-Meier rate = 50%) with a mild/moderate CCI score and 579 patients (Kaplan-Meier rate = 69%) with a severe CCI score died over a median follow-up of 9.8 years. After adjusting for baseline confounders, patients with a severe CCI score were at higher risk for all-cause mortality (hazard ratio 1.44, 95% confidence interval 1.19-1.74; P < 0.001). There was no interaction between CCI score and treatment effect on survival (P = 0.756). CONCLUSIONS:More than 70% of patients had a severe burden of medical co-morbidities at baseline, which was independently associated with increased risk of death. There was not a differential benefit of surgical revascularization with respect to survival based on severity of co-morbidity.
| S-EPMC6818499 | biostudies-literature
Project description:Moyamoya disease is an unusual occlusive cerebrovascular condition commonly seen in children, marked by stenosis of the internal carotid artery and circle of Willis, causing, cerebral ischemia. Moyamoya syndrome is a Moyamoya-like arteriopathy with risk factors including autoimmune disorders, thyroid disease, sickle cell disease, or Down syndrome. Trisomy 21 is a genetic disorder consistent with specific physical and behavioral characteristics, with intellectual impairment. We describe a rare case of Moyamoya syndrome manifesting as ischemic stroke in an adult with Down syndrome.
| S-EPMC9167869 | biostudies-literature
Project description:We identified diffuse lesions made of BRAF V600E-mutant CD34-immunopositive stellar cells in human samples resected to cure drug-resistant focal epilepsy. We performed single-nuclei RNAseq 5' 10X on three human brain samples (two BRAF mutant samples and one BRAF wildtype sample as control) in order to identify the molecular phenotype of CD34+ cells.
2024-03-03 | GSE226815 | GEO
Project description:IntroductionRecent studies have suggested associations between RNF213 variants and the formation of periventricular anastomosis among patients with moyamoya disease, leading to early onset of cerebral hemorrhage and rebleeding.Case descriptionWe report herein the case of a boy with Down syndrome and moyamoya syndrome. Exome sequencing identified a heterozygous RNF213 R4810K variant. After ischemic stroke occurred at 9 years old, indirect surgical revascularization was performed for the left cerebral hemisphere and improved ischemic symptoms and cerebral hypoperfusion, while the left choroidal anastomosis remained. At 13 years old, he presented with left thalamic hemorrhage attributed to the anterior choroidal artery, with rebleeding observed four days after the initial hemorrhage under strict blood pressure control. The patient was discharged without neurological deficits 20 days after the hemorrhagic stroke.ConclusionPresence of an RNF213 variant and choroidal anastomosis may represent risk factors for cerebral hemorrhage in patients with Down syndrome and moyamoya syndrome, as well as in patients with moyamoya disease.
| S-EPMC10652563 | biostudies-literature
Project description:Patients with ischemic left ventricular dysfunction have higher operative risk with coronary artery bypass graft surgery (CABG). However, those whose early risk is surpassed by subsequent survival benefit have not been identified.This study sought to examine the impact of anatomic variables associated with poor prognosis on the effect of CABG in ischemic cardiomyopathy.All 1,212 patients in the STICH (Surgical Treatment of IsChemic Heart failure) surgical revascularization trial were included. Patients had coronary artery disease (CAD) and ejection fraction (EF) of ?35% and were randomized to receive CABG plus medical therapy or optimal medical therapy (OMT) alone. This study focused on 3 prognostic factors: presence of 3-vessel CAD, EF below the median (27%), and end-systolic volume index (ESVI) above the median (79 ml/m(2)). Patients were categorized as having 0 to 1 or 2 to 3 of these factors.Patients with 2 to 3 prognostic factors (n = 636) had reduced mortality with CABG compared with those who received OMT (hazard ratio [HR]: 0.71; 95% confidence interval [CI]: 0.56 to 0.89; p = 0.004); CABG had no such effect in patients with 0 to 1 factor (HR: 1.08; 95% CI: 0.81 to 1.44; p = 0.591). There was a significant interaction between the number of factors and the effect of CABG on mortality (p = 0.022). Although 30-day risk with CABG was higher, a net beneficial effect of CABG relative to OMT was observed at >2 years in patients with 2 to 3 factors (HR: 0.53; 95% CI: 0.37 to 0.75; p<0.001) but not in those with 0 to 1 factor (HR: 0.88; 95% CI: 0.59 to 1.31; p = 0.535).Patients with more advanced ischemic cardiomyopathy receive greater benefit from CABG. This supports the indication for surgical revascularization in patients with more extensive CAD and worse myocardial dysfunction and remodeling. (Comparison of Surgical and Medical Treatment for Congestive Heart Failure and Coronary Artery Disease [STICH]; NCT00023595).
| S-EPMC4129547 | biostudies-literature
Project description:Objective: To evaluate clinical and radiological outcomes after revascularization of hemorrhagic moyamoya disease (MMD). Materials and Methods: We retrospectively collected patients with hemorrhagic MMD who received revascularization from January 2011 to June 2018 at a high-volume stroke center. Rebleeding, ischemic stroke, modified Rankin Scale (mRS) and death after revascularization were used to evaluate long-term clinical outcome. Poor neurological outcome was defined as a mRS>2. The changes of original and revascularization collaterals were used to evaluate radiological outcome. The clinical and radiological outcomes between patients with different surgical revascularization were compared. Results: A total of 312 patients (319 hemispheres) were recruited, including 133 hemispheres (41.7%) with indirect revascularization and 186 hemispheres (58.3%) with direct revascularization. In 308 hemispheres with clinical follow-up data, Postoperative rebleeding, ischemic stroke, poor neurological outcome and death occurred in 13.0% (40/308), 2.6% (8/308), 12.0% (37/308), and 6.2% (19/308) of the hemispheres, respectively. The rates of postoperative rebleeding (8.5 vs. 19.1%, P = 0.006) and poor neurological outcome (8.5 vs. 16.8%, P = 0.026) were lower in hemispheres with direct revascularization than those with indirect revascularization. However, there was no statistically significant difference in the rates of postoperative ischemic stroke (1.1 vs. 4.6%, P = 0.129) and death (4.5 vs. 8.4%, P = 0.162) between the two groups. Multivariate logistic regression analysis indicated that the risk of postoperative rebleeding was higher in those with untreated aneurysms, repetitive bleeding episodes, normal perfusion status, and indirect revascularization (P < 0.05). In 78 hemispheres with radiological follow-up data, the regression of moyamoya vessels, anterior choroidal artery (AchA), posterior communicating artery (PcomA) and aneurysms were present in 44.9, 47.4, 25.6, and 11.5% of the hemispheres, respectively. The regression of original collaterals and establishment of revascularization collaterals were more significant in hemispheres with direct revascularization than those with indirect revascularization (P < 0.05). Conclusion: Direct revascularization may be superior to indirect revascularization for prevention of rebleeding and poor neurological outcome in adults with hemorrhagic MMD. The risk of postoperative rebleeding was higher in those with untreated aneurysms, repetitive bleeding episodes, normal perfusion status, and indirect revascularization. The regression of original collaterals and establishment of revascularization collaterals after revascularization were more significant in hemispheres with direct revascularization than those with indirect revascularization.
| S-EPMC7221061 | biostudies-literature
Project description:The corresponding hemodynamic changes of the internal carotid artery (ICA) after the revascularization surgery for moyamoya disease (MMD) remain unclear. The aim of this study was to analyze the hemodynamic changes of the ipsilateral ICA after the combined direct and indirect extracranial-intracranial (EC-IC) bypass. MMD patients undergoing combined EC-IC bypass were retrospectively reviewed. The mean transit time (MTT) of ICA was evaluated by color-coding angiography before revascularization and at follow-up. The MTT defined as the blood transit time between the end of cervical portion (C1) and the C7 segment of ICA. The clinical prognosis was assessed with Matsushima grading system, moyamoya vessel reduction system, and modified Rankin Scale (mRS). The correlation between hemodynamic parameter and prognosis was analyzed. Subgroup analysis was conducted between different presentations and different ages. Fifty-one patients were identified and the mean imaging follow-up interval was 5.5 months. The ICA-MTT was increased after the combined revascularization (P?<?0.001) compared with contralateral ICA. Faster preoperative ICA-MTT was significantly associated with improved mRS in the ischemic group (P?=?0.05). The increased ICA-MTT was significantly associated with favorable neoangiogenesis (P?=?0.04), moyamoya vessel reduction (>?50%) (P?=?0.023), and improved mRS score (P?=?0.008). In subgroup analysis, the correlation in the ischemic subgroup and adult subgroup remained significant. In this cohort, the ICA-MTT increased after the combined EC-IC bypass, and there was a positive correlation between the increased blood transit time and favorable outcomes. Color-coding DSA proved to be useful as a quantitative and serial method to monitor postoperative courses after revascularization in MMD.
| S-EPMC7496042 | biostudies-literature