Objective Toinvestigatetheoperativeeffectandsafetyofendovascularstentingfor thetreatmentofsymptomaticvertebralarteryostialstenosis.Methods Fortypatientswithsymptomatic vertebral artery ostial stenosis and stenosis rate ≥70% were admitted to the Department of Neurology, China-Japan Friendship Hospital from November 2010 to January 2013 were enrolled retrospectively. All patients received endovascular stenting therapy,15 of them were implanted bare metal stents,and 25 were implanted drug eluting stents. The technical successful rate of operation,perioperation complications,and symptom remission rate of the patients were analyzed. At the same time,stroke and death incident as well as the related ischemic symptoms of the stent vascular feeding area in the follow-up period (13 to 36 months)wereobservedandtherestenosisratewasdocumented.Results Atotalof42stentswereimplanted in 40 patients,and the technical success rate was 100. 0%. The preoperative stenosis rate of vertebral artery ostial stenosis was 75% to 99%(mean 85 ± 7%);the postoperative stenosis rate was 0% to 20%(mean 6 ± 4%). There was no perioperative complication. The clinical symptoms of 19 patients disappeared completely,16 were improved significantly within the follow-up period,and the symptom remission rate was 87. 5%. No stent vascular feeding area related stroke and death occurred. Four patients had transient ischemic attack in posterior circulation,13 had restenosis after procedure (10 of them with bare mental stents and 3 with drug eluting stents). There was significant difference in restenosis rate between the bare mental stents andthedrugelutingstents(10/15vs3/25,P=0.001).Conclusion Endovascularstentingforthe treatment of the severe symptomatic vertebral artery ostial stenosis is a safe and efficient method. Although its restenosis rate is high,but it can improve the symptom of posterior circulation ischemia effectively.

Diarrhea is a common intestinal symptom in macaque.The corresponding intestinal lesions of macaque are mainly described at autopsy but less observed by colonoscopy.The aim of this study was to develop a colonoscopic technique and to obtain endoscopic images of the entire colon in macaques.Eight healthy adult macaques ( 5 males and 3 females) without diarrhea for 2 months, were fed Glauber’ s salt through nasogastric tubes.The colon cleanliness was well matched to the endoscopic observation of macaque colon.The procedure took 10-20 min for each animal.There was no obvious abnormality in the colon of four animals except some slight differences of mucosal structure from that of human beings.Small pieces of erosion and ulcer in the colons were observed in four macaques which presented mild diarrhea for less than 1 day, while a severe stenosis was observed in one of those four macaques.No animal died during and one week after the endoscopic procedure.Colonoscopy may safely performed in macaques.The images taken by colonoscopy may be important to establish diagnosis and treatment of colitis in macaques in time and to evaluate the efficacy of drug intervention as well.This technique is also helpful to provide qualified macaques for scientific researches.

OBJECTIVE: To explore the clinical characteristics and genetic basis of a child with Mental retardation autosomal dominant 51 (MRD51). METHODS: A child with MRD51 who was hospitalized at Guangzhou Women and Children's Medical Center on March 4, 2022 was selected as the study subject. Clinical data of the child was collected. Peripheral blood samples of the child and her parents were collected and subjected to whole exome sequencing (WES). Candidate variants were verified by Sanger sequencing and bioinformatic analysis. RESULTS: The child, a 5-year-and-3-month-old girl, had manifested autism spectrum disorder (ASD), mental retardation (MR), recurrent febrile convulsions and facial dysmorphism. WES revealed that she has harbored a novel heterozygous variant of c.142G>T (p.Glu48Ter) in the KMT5B gene. Sanger sequencing confirmed that neither of her parents has carried the same variant. The variant has not been recorded in the ClinVar, OMIM and HGMD, ESP, ExAC and 1000 Genomes databases. Analysis with online software including Mutation Taster, GERP++ and CADD indicated it to be pathogenic. Prediction with SWISS-MODEL online software suggested that the variant may have a significant impact on the structure of KMT5B protein. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was predicted to be pathogenic. CONCLUSION The c.142G>T (p.Glu48Ter) variant of the KMT5B gene probably underlay the MRD51 in this child. Above finding has expanded the spectrum of KMT5B gene mutations and provided a reference for clinical diagnosis and genetic counseling for this family.
Humans ; Female ; Child, Preschool ; Intellectual Disability/genetics* ; Autism Spectrum Disorder/genetics* ; Mutation