Clinical features, polysomnography, and genetics association study of restless legs syndrome in clinic based Chinese patients: A multicenter observational study.

STUDY OBJECTIVES: To systemically describe the clinical features, polysomnography (PSG) finding, laboratory tests and single-nucleotide polymorphisms (SNPs) in a clinic based Chinese primary restless legs syndrome (RLS) population. METHODS: This observational study, conducted from January 2020 to October 2021 across 22 sleep labs in China, recruited 771 patients diagnosed with RLS following the 2014 RLSSG criteria. Clinical data, PSG testing, and laboratory examination and SNPs of patients with RLS were collected. A total of 32 SNPs in 24 loci were replicated using the Asian Screening Array chip, employing data from the Han Chinese Genomes Initiative as controls. RESULTS: In this study with 771 RLS patients, 645 had primary RLS, and 617 has DNA available for SNP study. Among the 645 primary RLS, 59.7% were women. 33% had a family history of RLS, with stronger familial influence in early-onset cases. Clinical evaluations showed 10.4% had discomfort in body parts other than legs. PSG showed that 57.1% of RLS patients had periodic leg movement index (PLMI) of >5/h and 39.1% had PLMI >15/h, respectively; 73.8% of RLS patients had an Apnea-Hypopnea Index (AHI) > 5/h, and 45.3% had an AHI >15/h. The laboratory examinations revealed serum ferritin levels <75 ng/ml in 31.6%, and transferrin saturation (TSAT) of <45% in 88.7% of RLS patients. Seven new SNPs in 5 genes showed a significant allelic association with Chinese primary RLS, with one previously reported (BTBD9) and four new findings (TOX3, PRMT6, DCDC2C, NOS1). CONCLUSIONS: Chinese RLS patients has specific characters in many aspects. A high family history with RLS not only indicates strong genetic influence, but also reminds us to consider the familial effect in the epidemiological study. Newly developed sequencing technique with large samples remains to be done.

Long-term Use of Proton Pump Inhibitors is Associated With An Increased Risk of Nonalcoholic Fatty Liver Disease.

BACKGROUNDS: The adverse effects of long-term use of proton pump inhibitors (PPIs) have led to growing concern. The association between PPIs use and the risks of nonalcoholic fatty liver disease (NAFLD) remains controversial. GOAL: The aim of this study was to investigate the association between PPIs use and the risks of NAFLD among the general adult population in the United States. STUDY: We performed a cross-sectional study by extracting data from the National Health and Nutrition Examination Survey of 2017 to 2018. The association between PPIs use and NAFLD risks was analyzed by weighted multivariate logistic regression. RESULTS: Among the 4238 participants included in this study, 2167 were diagnosed with NAFLD. In the multivariate logistic regression model, PPIs use was associated with increased risks of NAFLD [odds ratio (OR): 1.318, 95% CI: 1.044-1.663; P=0.020]. This association was nonsignificant in participants taking PPIs for ˂5 years (OR: 0.846, 95% CI: 0.579-1.238; P=0.390), whereas it remained significant in participants taking PPIs for more than 5 years (OR: 2.016, 95% CI: 1.366-2.975; P=0.031). Further analysis showed that the use of PPIs was positively associated with risks of severe hepatic steatosis (OR: 1.451, 95% CI: 1.034-2.036; P=0.031) but not with mild-to-moderate steatosis (OR: 1.242, 95% CI: 0.886-1.741; P=0.208). CONCLUSIONS: This study indicated that taking PPIs was associated with increased risks of NAFLD, especially severe hepatic steatosis. Awareness should be raised regarding the potential risks of NAFLD when prescribing PPIs.

Positive Association Between the Chinese Visceral Adiposity Index and Nonalcoholic Fatty Liver Disease in Lean Adults.

BACKGROUND: Chinese visceral adiposity index (CVAI) is a novel indicator that precisely evaluates visceral obesity and has been shown to be significantly associated with nonalcoholic fatty liver disease (NAFLD) in the general population. However, the relationship between CVAI and NAFLD in lean adults remains unclear. AIMS: This study aimed to explore the association of CVAI with NAFLD in a lean population and evaluate the diagnostic capability of CVAI for lean NAFLD. METHODS: A cross-sectional study was conducted among 9,607 lean adults (body mass index < 24 kg/m2), who underwent their annual health examinations at the First Affiliated Hospital, Zhejiang University School of Medicine in 2021. NAFLD was determined by ultrasonography to the exclusion of other known etiologies. RESULTS: The prevalence of NAFLD was 16.4% in this lean population. CVAI values were significantly higher in participants with NAFLD than those without NAFLD and the CVAI quartile was positively associated with the prevalence of NAFLD, which was 0.4%, 6.0%, 19.4%, and 39.8% among the participants with CVAI in quartile 1 to 4, respectively (P for trend < 0.001). Logistic regression analysis found that CVAI was positively associated with the risk of NAFLD (adjusted odds ratio: 1.025, 95% confidence interval: 1.021-1.028; P < 0.001). Furthermore, CVAI had a significantly higher area under curve value for detecting NAFLD than other visceral obesity indices. CONCLUSION: Our study showed that CVAI was positively associated with the prevalence and risk of NAFLD in lean adults, and CVAI showed the highest diagnostic ability for lean NAFLD.

A retrospective study of neuromuscular electrical stimulation for treating women with post-stroke incontinence.

This retrospective study evaluated the effect of using neuromuscular electrical stimulation (NMES) for the treatment of post-stroke urinary incontinence (PSUI) among female population in China.A total of 163 eligible patients with PSUI were included in this study. Of these, 103 patients were assigned to a treatment group, and 60 subjects were assigned to a control group. All patients in both groups received bladder training. In addition, patients in the treatment group also received NMES. All patients were treated for a total of 8 weeks. The outcome measurements included the amount of urine leakage, urinary symptoms and quality of life. The urinary symptoms were measured by the Bristol Female Urinary Symptoms Questionnaire (BFUSQ) score, and the quality of life was assessed by the International Consultation on Incontinence Questionnaire-Short Form (ICIQ-SF) score. In addition, adverse events were also documented in this study.After 4-week treatment, patients who received NMES did not exert better outcomes in the amount of urine leakage, urinary symptoms, measured by BFUSQ scale, and the quality of life, assessed by ICIQ-SF scale. However, after 8-week treatment, patients in the treatment group showed greater effect in reducing the amount of urine leakage (P < .01), enhancing urinary symptoms, as measured by BFUSQ scale (P < .01), and improving the quality of life, as assessed by ICIQ-SF scale (P < .01), compared with patients in the control group. In addition, no adverse event was recorded during the period of 8-week treatment in this study.The results of this study indicated that NMES may benefit for patients with PSUI after 8-week treatment. Future studies should focus on warranting the results of this study.

[Heterologous expression and characterization of L200F/D215K mutant of homoserine dehydrogenase from Corynebacterium pekinense AS1.299].

OBJECTIVE: To obtain a new homoserine dehydrogenase with better properties from Corynebacterium pekinense by the spatial structure transfromation. METHODS: Double mutants L200F/D215A, L200F/D215E, L200F/D215G and L200F/D215K were constructed by site-directed mutagenesis and expressed in E. coli BL21. L200F/D215K was characterized for its highest catalytic efficiency and compared with that of L200F. RESULTS: The Vmax of L200F/D215K was 36.92 U/mg, 1.24 times as that of L200F. The optimum reaction temperature of L200F/D215K was 37 degrees C, 2 degrees C higher than that of L200F. The optimum pH of L200F/D215K was 7.5, the same as that of L200F. The half-life time of L200F/D215K under optimum temperature was 4.16 h and was 1.12 times as that of L200F. Both L200F/D215K and L200F had good resistance to organic solvents and metal ions. CONCLUSION: Through the spatial structure transformation, the enzymatic activity was increased, and the enzymology properties was optimized.