Identification of a novel mutation in ALMS1 in a Chinese patient with monogenic diabetic syndrome by whole-exome sequencing.

Alstrom syndrome (AS) is one type of monogenic diabetic syndromes caused by mutation in the ALMS1. Due to rare prevalence and overlaps of clinical symptoms, monogenic diabetes is often misdiagnosed. Here, we report a Chinese diabetes patient with poor blood glucose control and insulin resistance. With whole-exome sequencing (WES), this patient was classified into monogenic diabetes and diagnosed as AS with one novel gene mutation identified. This study highlights the clinical application of WES in the diagnosis of monogenic diabetes.

Change in Urine Albumin-to-Creatinine Ratio and Risk of Diabetic Peripheral Neuropathy in Type 2 Diabetes: A Retrospective Cohort Study.

PURPOSE: This study aimed to assess association between change in urine albumin-to-creatinine ratio (UACR) and the risk of diabetic peripheral neuropathy (DPN) in type 2 diabetes mellitus. PATIENTS AND METHODS: A retrospective study was performed, which included 185 individuals with type 2 diabetes. At baseline, and at two-year follow-up, we collected basic data, recorded symptoms and signs of DPN, measured biochemical indicators, composite motor nerve conduction velocity (composite MCV), and composite sensory nerve conduction velocity (composite SCV). RESULTS: Changes of composite SCV, MCV and TCSS among different changes in UACR in patients without DPN and with DPN were not significantly different. An increase in UACR ≥30% (OR 3.059, 95%; CI: 1.012-9.249) suggested a risk for new-onset DPN. Based on ROC curve analysis, the areas under the curve were 0.654 ± 0.066 for change of UACR levels in non-DPN patients. CONCLUSION: Change in UACR and NCV was not related in patients without DPN and with DPN; change in UACR ≥30% suggested a risk for new-onset DPN.

[Use body fat determination instead of simple body composition parameters evaluate the risk of metabolic syndrome in Fuzhou adults].

OBJECTIVE: To compare the application of two different definitions of MS (IDF2005 and ATPIII2001) in this study population. According to IDF2005, evaluate the impact of body fat content and its distribution for the risk of metabolic syndrome. METHODS: The sample of 818 subjects measure the simple anthropometric parameters including body mass index (BMI), waist circumference, waist-hip ratio (WHR), and so on. Body fat mass and distribution were measured by dual-energy X-ray absorptiometry (DEXA). Quartile method is used to analyse the relevance ratio of MS in different value of BF and TF. ROC curve is used in evaluating of tipping point of BF, TF, simple body composition parameters and reliability of diagnosis. The risk of MS were analyzed by logistic regression. RESULTS: According to IDF2005, when BF, TF > or = P50. the relevance ratio of MS has a remarkable increasing (P < 0.01), its matching BMI is 24 and 23 kg/m2, according to NCEP ATPIII2001, when BF, TF > or =P75, the relevance ratio of MS has a remarkable increasing, too (P < 0.01), its matching BMI value is 26 kg/m2, BF and TF of MS patients which diagnosed by IDF2005 are lower than ATPIII2001 (P < 0.05). For each additional level of BF,the odds ratios of MS prevalence were 1.952 (male) and 2.644 (female); for each additional level of TF,the odds ratios of MS prevalence were 3. 276 (male) and 3.058 (female), BMI, WHR were not into the equation. The AUCROC which used to evaluate the exist of MS by BF and TF is larger than 0.9, and has better performance in sensitivity and specificity than BMI and WHR; the best point of contact of MS in BF is 25% (male), 35% (female), in TF is 30% (male), 38% (female). CONCLUSION: ATPIII standards may have been missed MS patients with normal high fasting blood glucose value and abdominal obesity. The application of IDF2005 standards was proved better in this population. Compared with simple anthropometric parameters, the accumulation of body fat, especially trunk fat even more harmful, to is better to identify the risk of MS in Fuzhou adults population.

Prognostic significance of high triglyceride and apolipoprotein B levels in patients with stage III and high-risk stage II colorectal cancer undergoing curative surgery.

Although epidemiologic studies suggest that dyslipidemia increases the risk of colorectal cancer (CRC), the prognostic value of blood lipid and apolipoprotein levels in CRC remains unclear. The aim of the present study was to investigate the impact of blood lipid and apolipoprotein levels on the prognosis of patients with stage III and high-risk stage II CRC undergoing curative surgery. Preoperative levels of total cholesterol, triglycerides (TG), high-density lipoprotein, low-density lipoprotein, very-low-density lipoprotein, apolipoprotein A1 and apolipoprotein B (APO-B) in patients with CRC undergoing surgery were evaluated. The cut-off values of these factors were determined by the maximal x2 method and were used to classify patients into two prognostic groups: Poor and good prognosis groups. The patients prognostic values were assessed using the Kaplan-Meier curve and Cox regression analysis. In addition, the impact of these parameters on the prognosis and their predictive accuracy were evaluated using nomograms and Harrells concordance index, respectively. In total, 246 patients were included in this evaluation. Based on the cut-off points for TG (1.53 mmol/l in men and 1.58 mmol/l in women) and APO-B (0.73 mmol/l in men and women), the present study determined that both TG and APO-B were predictors of disease-free survival (DFS) and overall survival (OS). Multivariate analysis demonstrated that high TG (men, ≥1.53 mmol/l; women, ≥1.58 mmol/l) and high APO-B (≥0.73 mmol/l) levels were significantly associated with decreased DFS and OS. Nomograms that included values for TG and APO-B levels demonstrated higher predictive accuracy compared with that of nomograms without these values. These results indicated that TG and APO-B levels may be good independent prognostic biomarkers after radical CRC surgery. Therefore, adjusting these parameters to moderate levels may be beneficial.

[Relationship between body fat and beta-cell function in obesity women of PI-deficiency with phlegm-dampness type and QI-stagnancy with phlegm-blocking type].

OBJECTIVE: To analyze the relationship between body fat and beta-cell function in obesity women of Pi-deficiency with phlegm-dampness type (PDPD) and qi-stagnancy with phlegm-blocking type (QSPB). METHODS: Sixty women, who had normal blood glucose level and without family history of diabetes, were enrolled. They were classified into non-obesity group and obesity group depending on their body mass index (BMI), and subjects of obesity group were differentiated into the PDPD type and QSPB type according to Chinese medicine syndrome differentiation. The body fat was detected using double energy X-ray absorptiometry, and the beta-cell function was assessed by measuring the acute insulin response (AIR), the under insulin curve area (AUCins), the under glucose curve area (AUCglu), and their ratio (AUCins/AUCglu), through intravenous glucose tolerance test (IVGTT). RESULTS: BMI, body fat and waist circumference (Wf) were higher in obesity subjects than those in non-obesity subjects, but showed no significant difference between the two obesity types. Comparisons between obesity women of different types showed that the fat content of trunk and total body, the ratio of trunk fat/total mass, AIR, AUCins, and AUCins/AUCglu were all higher in QSPB than those in PDPD. AIR, AUCins, AUCins/AUCglu showed good correlation with BMI, Wf, trunk fat and total body fat contents. Multiple linear regression analysis demonstrated the increasing of trunk fat content was an influencing factor of AIR. CONCLUSION: Obesity women of QSPB type possess higher body fat (especially the trunk fat) content and insulin resistance with high acute insulin response, so clinical intervention should dominantly pay attention to subjects with QSPB type of obesity.