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α-Thalassemia (α-thal) is one of the most common genetic diseases in Southern China. Although more than 300 α-thal mutations have been reported in the world, the mutation spectrum is still not comprehensive. In this study, a novel mutation (HBA1: c.349G>T) in a newborn (proband) was first found by next-generation sequencing (NGS). Subsequently, hematological analysis and thalassemia genetic testing were performed for the family members. The results showed that both the proband and her mother were heterozygotes for this novel mutation and presented abnormal hematological indices. Based on the features observed in clinical practice, this novel mutation was considered as a type of α-thal variation. [ABSTRACT FROM AUTHOR]

Published studies have evaluated the association between PPAR-γ rs1801282 polymorphism and Alzheimer's disease (AD) susceptibility. However, a definitive conclusion remains elusive. The aim of this study was to derive a more precise estimation of this association. We searched PubMed, Embase, Alzgene database, Chinese National Knowledge Infrastructure (CNKI), China Biological Medicine Database and Wanfang Databases for related studies. Twelve case–control studies with a total of 4874 cases and 5439 controls were finally identified to be eligible studies in this meta-analysis. The association was assessed by summarizing the odds ratios (ORs) with the corresponding 95% confidence intervals (CIs). Overall, there was no significant association between PPAR-γ rs1801282 polymorphism and Alzheimer's disease risk in all genetic models (the allele model G vs. C: OR = 1.09, 95% CI 0.99–1.19, p = 0.07; the homozygous model GG vs. CC: OR = 1.04, 95% CI 0.75–1.44, p = 0.80; heterozygote model GC vs. CC: OR = 1.11, 95% CI 1,00–1.22, p = 0.05; the dominant model GG + GC vs. CC: OR = 1.10, 95% CI 1.00–1.22, p = 0.05; the recessive model GG vs. GC + CC: OR = 1.02, 95% CI 0.74–1.41, p = 0.90). In subgroup analysis by ethnicity, no significant difference was found in both Asians and Caucasians. In summary, the present meta-analysis suggests that the PPAR-γ rs1801282 polymorphism may not be associated with genetic susceptibility of AD in general population. [ABSTRACT FROM AUTHOR]

Vasoactive intestinal polypeptide-secreting tumors (VIPomas) are rare neuroendocrine tumors that often present as watery diarrhea, hypokalemia, and achlorhydria or hypochlorhydria. In this study, we present our institutional experience of diagnosis and treatment of VIPomas, along with a review of the Chinese literature since 1980. Patient #1, diagnosed in 1984 and with intact clinical records, shows the natural history of this disease. Patient #2, diagnosed in 2015, shows the results of evaluation by nuclear medicine techniques and the outcomes of standardized treatment. Comprehensive review of 41 cases allows evaluation of clinical characteristics, treatments and outcomes of pancreatic VIPoma patients. All patients presented with watery diarrhea. The average stool volume reached 3247 mL per day. Average serum VIP level was 839.3 ng/L. Twelve of the 41 cases were reported to have metastases at diagnosis. Somatostatin receptor scintigraphy and 18 FDG PET-CT are efficient methods for detection of VIPoma. Surgical excision can promptly alleviate hormonal symptoms., (Copyright © 2018 IAP and EPC. Published by Elsevier B.V. All rights reserved.)