[10]Jamie K Capal, et al. Describing autism spectrum disorder in tuberous sclerosis complex: Challenges and future opportunities. [J].Dev Med Child Neurol,2022. [11]Kothare S V,Singh K,Hochman T,et al.Genotype / phenotype in tuberous sclerosis complex: associations with clinical and radiologic...
Cases 1, 4 and 10 were reported to have a clinical diagnosis of TSC with plete clinical details provided. In addition, cases 4 and 5 each had a constitutional TSC mutation, and ase 3 the diagnosis of TSC was based on molecular g ics combined with family history of TSC. See Discussion....
TSCcomputational resourcesAccurate flow cytometry analyses for disease diagnosis purposes requires powerful computational and storage resources that are rarely available in clinical settings. The emerging high-performance cloud computing technologies could potentially address the above-mentioned scalability challenge...
org / 0000~0002~4344~7924 [ Abstract] Objective: To perform gene mutation analysis in a patient with atypical clinical manifestations of tuberous sclerosis ( TSC) for definite diagnosis. Methods: Peripheral blood DNA was obtained from a patient with clinically suspected TSC and her parentsꎬ and...
结节性硬化症TSC2基因突变的分析赵玉武,孙晓江,郑惠民,丁素菊【摘要】目的分析结节性硬化症(TSC)致病基因TSC2突变方式。方法采用聚合酶链反应.单链构象多态性(PCR—SSCP)技术,对TSC一家系4例TSC患者(其中1例疑似)、l例散发性TSC患者外周血TSC2的41个外显子进行检测,并与家系中健康对照组和无血缘关系健康对照组进...
We are currently conducting a clinical research study at Boston Children’s Hospital for individuals 18 months and older with a diagnosis of tuberous sclerosis complex (TSC) and autism spectrum disorder (ASD) and/or intellectual disability (ID). The goal of this study is to gain a better ...
which were consistentwith the diagnosis of TSC.A mutation c.5130_5131insT(p.V171 1Cfs+1 8)was identified in the TSC2 gene in the patient.A higher frequency of the mutation was found in theDNA of the tumor tissue than in that of the peripheral blood.No such a mutation was found in ...
The TSC-PROM starts with 15 questions on demographic and clinical information, including clinical and sociodemographic information (age, sex, nationality, age of TSC diagnosis, genetic testing, organs involved, use of medication, epilepsy, level of functioning, educational level, other diagnoses or hea...
Thus, when clinical and epidemiological evidence suggests thatC. perfringens is the cause of a food poisoning outbreak, the presence of hundreds of thousands or more of these organisms per gram of food substantiates the diagnosis. Illness typically occurs 8-15 h after ingestion of the contaminated...
The clinical features, diagnosis and natural history of nonalcoholic fatty liver disease Clin. Liver Dis., 8 (2004), pp. 521-533 (viii.) View PDFView articleView in ScopusGoogle Scholar 6 J.D. Browning, L.S. Szczepaniak, R. Dobbins, P. Nuremberg, J.D. Horton, J.C. Cohen, S.M....