Background This study aimed to analyze the genetics and treatments of the patients with the triad of diabetic ketoacidosis (DKA), hypertriglyceridemia, and acute pancreatitis (AP). Methods We conducted a retrospective study of six patients with the triad of AP, hypertriglyceridemia, and DKA at our hospital. All patients underwent plasmapheresis as part of their treatment. The clinical characteristics of the patients were obtained from the hospital information system and analyzed. Whole exome sequencing was performed using samples of one patient (case 6) and his family members. Results The average triglyceride level before plasmapheresis was 3282.17 ± 2975.43 mg/dL (range: 1646‐9332 mg/dL). The triglyceride levels dropped by approximately 80% after plasmapheresis. None of the patients developed complications related from plasmapheresis. During follow‐up, patients 5 and 6 developed recurrent pancreatitis for several times and showed the formation of pancreatic pseudocysts. We identified three novel heterozygous missense mutations in the family of patient 6, including c.12614C > T (p.Pro4205Leu) in APOB, c.160G > C (p.Glu54Gln) in CILP2, and c.1199C > A (p.Ala400Glu) in PEPD. Conclusions Three novel heterozygous missense mutations, including c.12614C > T (p.Pro4205Leu) in APOB, c.160G > C (p.Glu54Gln) in CILP2, and c.1199C > A (p.Ala400Glu) in PEPD were first identified in a patient with the triad of DKA, hypertriglyceridemia, and AP. The combination of plasmapheresis, hydration, and insulin therapy may have the greatest clinical benefits for these patients.

Background: Small nucleolar RNA host gene 12 (SNHG12) has been demonstrated to be a long noncoding RNA (lncRNA) that facilitates the progression of several solid malignant tumors. However, whether the expression level of SNHG12 in solid malignant tumors is associated with patients prognosis have not been investigated. Methods: We systematically searched PubMed, EMBASE and Cochrane Library from Jan 1, 1950 to Mar 24, 2020 for randomized controlled trials published in English on SNHG12 expression in solid malignant tumors. We used the Newcastle-Ottawa Scale to assess the quality of articles. The HRs and 95%CI that extracted from Kaplan–Meier curves were used to perform the forest plot using a fixed-effects model. The meta-analysis was performed according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. Results: Thirteen articles containing 821 patients were included in this systematic review and meta-analysis. The result showed that high lncRNA SNHG12 expression is significantly associated with poor overall survival (OS) (HR = 1.94, 95% CI: 1.56–2.41, P < .001) and the studies are lack of statistically significant heterogeneity ( P = .878, I 2 = 0.0%). Beggs plot and Eggers test were applied to testify no publication bias existence in these studies. Subgroup analyses were performed and the result showed that TNM stage, lymph node metastasis and tumor type can influence the patients outcome, while there was no significantly correlation between SNHG12 expression and gender. Conclusions: The systematical review and meta-analysis synthetically analyzed 13 articles including 821 patients with ten types of solid malignant tumors, concluding that higher lncRNA SNHG12 expression is significantly associated with worse clinical prognosis.

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