Kawasaki disease (KD)also known as mucocutaneous lymph node syndrome is a systemic vascular disease without clear etiology.KD mainly occurs in infants and children under the age of five.Coronary artery lesion(CAL) is the most important factor affecting the prognosis of KD patients.It is the main cause of childhood ischemic heart disease,including coronary artery dilatation,coronary aneurysm and coronary artery stenosis.So far,more and more researches indicate that genetic factors play a significant role in the pathogenesis of KD with coronary artery injury.This article focuses on the progress of gene polymorphism in KD with coronary artery injury.

Objective To preliminarily explore the clinical features,treatment,and outcomes of moyamoya disease in the elderly.Methods The clinical data of the elderly patients with moyamoya disease (aged ＞ 60 years) admitted to the Department of Neurosurgery,the 307th Hospital of PLA from May 2007 to July 2016 were collected retrospectively.Their clinical features,imaging features,and surgical outcomes were analyzed.Results A total of 68 patients were enrolled,including 35 females (51.47％) and 33 males (48.53％).The ratio of male to female was 1:1.06.The age at the time of diagnosis of moyamoya disease was 62.82 ±3.08 years.Fifty-two patients (76.5％) had vascular risk factors.The most common clinical manifestation was cerebral ischemia (n =61,89.7％).Thirty of them (44.1％) presented as transient ischemic attack.The Suzuki staging of most patients was 4-6 (71.6％),12 patients (17.6％) complicated with posterior cerebral artery stenosis or occlusion.Thirty-one patients were treated with encephalo-duroarterio-synangiosis (EDAS).Among them,17 patients underwent bilateral surgery and 14 underwent unilateral surgery.The incidence of perioperative infarction or hemorrhage was 5.6％ (2 patients developed cerebral infarction and 1 patient developed cerebral hemorrhage);37 patients received conservative treatment.During the follow-up period,5 patients developed cerebral infarction (1 in the surgical treatment group and 4 in the conservative treatment group);there was no significant difference between the 2 groups.There were no significant differences in age,sex,vascular risk factor,clinical symptoms,and preoperative modified Rankin Scale (mRS) scores between the 2 groups.Cerebral angiography was performed 6-9 months after operation in the surgical treatment group.A total of 24 cerebral hemispheres were evaluated by Matsushima typing,of which 17 (70.8％) were excellent.During the follow-up period,the proportion of patients with clinical outcome excellent (the mRS score was 0) (Z =-5.268,P ＜ 0.00l) and clinical improvement (the mRS score was improved ≥ 1 compared to the baseline) (Z =-3.780,P ＜ 0.001) were significantly higher than the conservative treatment group.Conclusions The clinical symptoms of old patients with moyamoya disease were mainly cerebral ischemia.Most of them had vascular risk factors,and the imaging manifestations showed higher Suzuki staging.The perioperative risk of EDAS in the old patients with moyamoya disease was lower.It might be an effective method to prevent clinical symptoms progress and improve the outcomes.

Objective:To investigate the effect of aspirin on the outcomes in adult patients with ischemic moyamoya disease treated with encephaloduroarteriosynangiosis (EDAS).Methods:Adult patients with ischemic moyamoya disease treated EDAS in the Department of Neurosurgery, the Fifth Medical Center, PLA General Hospital from January 2015 to September 2018 were enrolled retrospectively. The control group only received EDAS treatment, and the aspirin group received EDAS and aspirin antiplatelet treatment. The data of the both groups were analyzed retrospectively and the effective rate of operation, the incidence of perioperative intracerebral hemorrhage, the incidence of recurrent cerebrovascular events at 6 months after operation and the improvement rate of the modified Rankin Scale (mRS) score were compared.Results:A total of 120 adult patients with ischemic moyamoya disease were enrolled, including 60 in the aspirin group and 60 in the control group. EDAS was performed on 107 cerebral hemispheres in both groups. The operative effective rate in the aspirin group was significantly higher than that in the control group (82.24% vs. 65.42%; χ2=7.836, P=0.005). There was no perioperative cerebral hemorrhage event in the aspirin group and the control group. There was no significant difference in the incidence of cerebral infarction within 6 months after operation, but the incidence of transient ischemic attack in the aspirin group was significantly lower than that in the control group (15% vs. 40%; χ2=9.404, P=0.002). In addition, the improvement rate of mRS score in the aspirin group at 6 months after operation was significantly higher than that in the control group (85% vs. 63.33%; χ2=7.350, P=0.007). Conclusions:The combination of EDAS and aspirin can effectively improve the outcomes of adult patients with ischemic moyamoya disease without increasing the risk of perioperative intracerebral hemorrhage.

Background::Heterotaxy (HTX) is a thoracoabdominal organ anomaly syndrome and commonly accompanied by congenital heart disease (CHD). The aim of this study was to analyze rare copy number variations (CNVs) in a HTX/CHD cohort and to examine the potential mechanisms contributing to HTX/CHD.Methods::Chromosome microarray analysis was used to identify rare CNVs in a cohort of 120 unrelated HTX/CHD patients, and available samples from parents were used to confirm the inheritance pattern. Potential candidate genes in CNVs region were prioritized via the DECIPHER database, and PNPLA4 was identified as the leading candidate gene. To validate, we generated PNPLA4-overexpressing human induced pluripotent stem cell lines as well as pnpla4-overexpressing zebrafish model, followed by a series of transcriptomic, biochemical and cellular analyses. Results::Seventeen rare CNVs were identified in 15 of the 120 HTX/CHD patients (12.5%). Xp22.31 duplication was one of the inherited CNVs identified in this HTX/CHD cohort, and PNPLA4 in the Xp22.31 was a candidate gene associated with HTX/CHD. PNPLA4 is expressed in the lateral plate mesoderm, which is known to be critical for left/right embryonic patterning as well as cardiomyocyte differentiation, and in the neural crest cell lineage. Through a series of in vivo and in vitro analyses at the molecular and cellular levels, we revealed that the biological function of PNPLA4 is importantly involved in the primary cilia formation and function via its regulation of energy metabolism and mitochondria-mediated ATP production. Conclusions::Our findings demonstrated a significant association between CNVs and HTX/CHD. Our data strongly suggested that an increased genetic dose of PNPLA4 due to Xp22.31 duplication is a disease-causing risk factor for HTX/CHD.