1.Leptin in gastric cancer
Journal of International Oncology 2010;37(8):604-606
Leptin promotes proliferation of cancer cells via various signal transduction pathways and contributes to angiogenesis in gastric cancer. Leptin expression level is significantly higher in gastric cancer than in normal gastric mucous tissues, and correlates with clinicopathological features such as differentiation,tumor size and distant metastasis. Leptin has become a prognostic factor and a new therapy target of gastric cancer.
2.Clinical Application of Chromosome Microarray Analysis in Han Chinese Children with Neurodevelopmental Disorders.
Mingyu XU ; Yiting JI ; Ting ZHANG ; Xiaodong JIANG ; Yun FAN ; Juan GENG ; Fei LI
Neuroscience Bulletin 2018;34(6):981-991
Chromosome microarray analysis (CMA) is a cost-effective molecular cytogenetic technique that has been used as a first-line diagnostic test in neurodevelopmental disorders in the USA since 2011. The impact of CMA results on clinical practice in China is not yet well studied, so we aimed to better evaluate this phenomenon. We analyzed the CMA results from 434 patients in our clinic, and characterized their molecular diagnoses, clinical features, and follow-up clinical actions based on these results. The overall diagnostic yield for our patients was 13.6% (59 out of 434). This gave a detection rate of 14.7% for developmental delay/intellectual disability (DD/ID, 38/259) and 12% for autism spectrum disorders (ASDs, 21/175). Thirty-three recurrent (n ≥ 2) variants were found, distributed at six chromosomal loci involving known chromosome syndromes (such as DiGeorge, Williams Beuren, and Angelman/Prader-Willi syndromes). The spectrum of positive copy number variants in our study was comparable to that reported in Caucasian populations, but with specific characteristics. Parental origin tests indicated an effect involving a significant maternal transmission bias to sons. The majority of patients with positive results (94.9%) had benefits, allowing earlier diagnosis (36/59), prioritized full clinical management (28/59), medication changes (7/59), a changed prognosis (30/59), and prenatal genetic counseling (15/59). Our results provide information on de novo mutations in Chinese children with DD/ID and/or ASDs. Our data showed that microarray testing provides immediate clinical utility for patients. It is expected that the personalized medical care of children with developmental disabilities will lead to improved outcomes in long-term developmental potential. We advocate using the diagnostic yield of clinically actionable results to evaluate CMA as it provides information of both clinical validity and clinical utility.
Age Factors
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Child
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Child, Preschool
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China
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epidemiology
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ethnology
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Chromosome Disorders
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genetics
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physiopathology
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Chromosomes
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genetics
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DNA Copy Number Variations
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genetics
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Disease Management
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Female
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Humans
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Infant
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Male
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Microarray Analysis
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methods
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Neurodevelopmental Disorders
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diagnosis
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ethnology
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genetics
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physiopathology