Medicine
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The acyl-CoA:diacylglycerol acyltransferase (DGAT) enzymes DGAT1 and DGAT2 catalyze the final step in triglycerides biosynthesis. This study examined the relationships of baseline phenotypes and the common polymorphisms in DGAT1 and DGAT2 with the lipid responses to niacin. Lipid responses in Chinese patients with dyslipidemia treated with the extended release (ER) niacin/laropiprant combination 1000/20 mg for 4 weeks and then 2000/40 mg for 8 weeks (n = 121, the primary study) or with ER niacin 1500 mg for at least 4 weeks (n = 68, the replication study) were analyzed according to genotypes of DGAT1 rs7003945 T>C and DGAT2 rs3060 T>C polymorphisms. ⋯ Concomitant statin therapy and lower body weight were also associated with greater reduction in LDL-C. Baseline lipid levels were the main determinants of lipid responses especially for LDL-C. The DGAT2 rs3060 polymorphism might influence the lipid responses depending on baseline phenotype, but this association did not persist after adjustment for the baseline lipid levels.
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Cardiac pheochromocytoma is relatively rare. Few reports describe the intraoperative and postoperative progression of patients experiencing a life-threatening pheochromocytoma crisis treated with extracorporeal membrane oxygenation (ECMO). A 35-year-old man was referred to our facility for paroxysmal hypertension with a 10-year history of sweating, headaches, cardiac palpitations, and postexercise dyspnea. ⋯ IABP was discontinued after 3 days, and ECMO was discontinued after 16 days. The patient was discharged 3 months postoperatively. This case indicates that mechanical life support with ECMO is a valuable option for pheochromocytoma-induced cardiac shock and should be considered as an effective therapeutic choice in patients with highly unstable hemodynamic function.
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Deciphering of genetic variants plays a critical role in research and clinic of genetic disorders, such as the well known neurodegenerative disease Parkinson disease (PD). To combine pool of targeted genes and next-generation sequencing (NGS), investigators could obtain high efficient but low-cost sequencing data of interested genes. Aim to discover genetic variants that might contribute to PD, we selected 48 candidate genes involved in different pathways and conducted a pilot study to screen nonsynonymous SNPs (nsSNPs) in 4 pooled samples from 237 sporadic Chinese PD patients. ⋯ However, genotyping analysis of 6 validated nsSNPs in 50 PD patients and 50 controls showed no significant differences in cases compared with controls. These data represent the first documentation and validation of these mutations in PD using target gene capture sequencing. Additional replication studies in other populations and functional research are merited to better evaluate precapture multiplex protocol and validate the role of the 6 nsSNPs in PD risk.
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CD4+ CD28- T cells also called CD28 null cells have been reported as increased in the clinical setting of acute coronary syndrome. Only 2 studies previously analyzed peripheral frequency of CD28 null cells in subjects with acute ischemic stroke but, to our knowledge, peripheral frequency of CD28 null cells in each TOAST subtype of ischemic stroke has never been evaluated. We hypothesized that CD4+ cells and, in particular, the CD28 null cell subset could show a different degree of peripheral percentage in subjects with acute ischemic stroke in relation to clinical subtype and severity of ischemic stroke. ⋯ We observed a significant relationship between CD28 null cells peripheral percentage and Scandinavian Stroke Scale and NIHSS scores. ROC curve analysis showed that CD28 null cell percentage may be useful to differentiate between stroke subtypes. These findings seem suggest a possible role for a T-cell component also in acute ischemic stroke clinical setting showing a different peripheral frequency of CD28 null cells in relation of each TOAST subtype of stroke.
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Few studies have investigated the clinical effect of iron deficiency anemia (IDA) on the use of the Hemoglobin A1c (HbA1c) as a screening parameter for diabetes or prediabetes. We investigated the association between IDA and HbA1c levels in Korean adults. Among the 11,472 adults (≥19 years of age) who participated in the 2011-2012 Korea National Health and Nutrition Examination Survey (a cross-sectional and nationally representative survey conducted by the Korean Center for Disease Control for Health Statistics), 807 patients with diabetes currently taking anti-diabetes medications were excluded from this study. ⋯ However, the weighted HbA1c levels in individuals with an FPG level ≥126 mg/dL and a weighted proportion (%) of an HbA1c level of ≥6.5% showed no significant differences according to the presence of IDA. In conclusion, the presence of IDA shifted the HbA1c level upward only in the normoglycemic and prediabetic ranges, not in the diabetic range. Therefore, IDA should be considered before using HbA1c as a screening test for prediabetes.