This study identifies several novel susceptibility genes for MMD. The association with homocysteine metabolism and the immune system enrichment of susceptibility gene expression suggest that therapeutic interventions targeting these pathways may be effective approaches for MMD treatment.

No abstract

M oyaMoya disease (MMD), a cerebral vascular disease, is characterized by progressive stenosis and occlusion of the terminal portion of the bilateral internal carotid arteries, leading to the formation of an abnormal vascular network composed of collateral pathways at the base of the brain. MMD can cause a reduction in the blood supply to the brain, and there are 2 major etiological categories of symptoms: those due to brain ischemia (i.e., stroke, transient ischemic attack, and seizure) and those due to the deleterious consequences of the compensatory mechanisms in response to ischemia (i.e., hemorrhage from fragile collateral vessels and headache aBBreViatiONS CBF = cerebral blood flow; DM = diabetes mellitus; EDAS = encephaloduroarteriosynangiosis; MCA = middle cerebral artery; MMD = moyamoya disease; mRS = modified Rankin Scale; PCA = posterior cerebral artery; STA = superficial temporal artery; T2DM = Type 2 DM. SuBmitted January 29, 2015. OBJectiVe Debate exists regarding the merits and shortcomings of an indirect bypass procedure for treating adult patients with moyamoya disease (MMD). Considerable variation in neovascularization occurs among different organs in patients with diabetes mellitus. Here, the effect of encephaloduroarteriosynangiosis on MMD associated with Type 2 diabetes mellitus (T2DM) is evaluated. methOdS A retrospective and 1:2 matched case-control study was conducted in moyamoya patients with or without T2DM (n = 180). Postoperative collateral formations were graded according to the Modified Collateral Grading System that originated from the Matsushima Angiographic Stage Classification. Neurological function outcomes before and after the operation were evaluated according to the modified Rankin Scale. Univariate and multivariate logistic regression analyses were performed to determine the risk factors for clinical outcome. reSultS There was no statistically significant difference in the constituent ratios of initial symptom and preoperative Suzuki stage between patients with and without T2DM. Progression of angiopathy around the circle of Willis was postoperatively observed in bilateral internal carotid arteries in both groups. Patients with T2DM had a higher postoperative Suzuki stage (p < 0.01) and more frequent development of collateral angiogenesis germinating from the external carotid after indirect revascularization procedures in the surgical cerebral hemisphere (82.7% vs 72.2%; p < 0.05). The extent of postoperative collateral formation in patients with diabetes mellitus was significantly higher (p < 0.01). Postoperative clinical improvement in the diabetes group was more common after revascularization procedures (p < 0.05), and the diabetes group had lower modified Rankin Scale scores (p < 0.05) in comparison with the nondiabetes group. Late postoperative stroke and posterior cerebral artery involvement were identified as predictors of unfavorable clinical outcome in both groups, while T2DM was associated with a favorable clinical outcome. cONcluSiONS Encephaloduroarteriosynangio...

Retroperitoneal laparoscopic ureterolithotomy is safe and effective for large or impacted stones of the upper ureter. It is associated with a short learning curve in the setting of an active laparoscopic practice for selected patients.

SAH is an important type of hemorrhage in MMD patients and ranks as the fourth most common type after intracerebral hemorrhage (ICH), intraventricular hemorrhage (IVH), and ICH + IVH. It mainly occurs in adult women, and the rupture of the transdural anastomosis might be the main cause of this condition.