Objective To detect the mutations of Von Hippel-Lindau (VHL) gene via analyzing the prevalence of family members of VHL syndrome,clinical diagnosis and treatment,and gene analysis of patients with hemangioblastoma.methods All members of the VHL syndrome family members improved all relevant tests and plotted the family map.5 ml peripheral blood was extracted for gene sequencing,and the sequencing Result s were compared with the reported mutations of VHL gene in NCBI database.Result s(1)Analysis of clinical data of four members of the family:Ⅰ-2,Ⅱ-1,Ⅱ-5 suffering from central nervous system hemangioblastoma, Ⅱ-3 with pancreatic,retinopathy and pheochromocytoma,and Ⅱ-5 also combined with kidney,pancreatic lesions.The second generation of patients in the family have been treated surgically.(2)Gene sequencing Result s showed that all subjects in the test had the same mutation:exon2 109 sequence ATATCACACTGCCA was deleted and termination codon UGA appeared in exon 502.Conclusion Through the mutations of the VHL syndrome family,it is found that the family mutation type is a new mutation.For patients with central nervous system hemangioblastoma-based should be suspected of the disease and improve the family history survey.Once the diagnosis of familial VHL syndrome patients are confirmed,it is necessary to inform the other members of the family for clinical screening,and carry out genetic testing to reduce the harm of the disease to the greatest extent.

PURPOSE: The efficacy of helmet continuous positive airway pressure (CPAP) in hypoxemic acute respiratory failure (hARF) remains unclear. The aim of this meta-analysis was to critically review studies that investigated the effect of helmet CPAP on gas exchange, mortality, and intubation rate in comparison with standard oxygen therapy. MATERIALS AND METHODS: We performed a meta-analysis of randomized controlled trials (RCTs) by searching the PubMed, Embase, Cochrane library, OVID, and CBM databases, and the bibliographies of the retrieved articles. Studies that enrolled adults with hARF who were treated with helmet CPAP and measured at least one of the following parameters were included: gas exchange, intubation rate, in-hospital mortality rate. RESULTS: Four studies with 377 subjects met the inclusion criteria and were analyzed. Compared to the standard oxygen therapy, helmet CPAP significantly increased the PaO2/FiO2 [weighted mean difference (WMD)=73.40, 95% confidence interval (95% CI): 43.92 to 102.87, p<0.00001], and decreased the arterial carbon dioxide levels (WMD=-1.92, 95% CI: -3.21 to -0.63, p=0.003), intubation rate [relative risk (RR)=0.21, 95% CI: 0.11 to 0.40, p<0.00001], and in-hospital mortality rate (RR=0.22, 95% CI: 0.09 to 0.50, p=0.0004). CONCLUSION: The results of this meta-analysis suggest that helmet CPAP improves oxygenation and reduces mortality and intubation rates in hARF. However, the significant clinical and statistical heterogeneity of the literature implies that large RCTs are needed to determine the role of helmet CPAP in different hypoxemic ARF populations.
Acute Disease ; Adult ; *Continuous Positive Airway Pressure ; Hospital Mortality ; Humans ; *Oxygen Inhalation Therapy ; Randomized Controlled Trials as Topic ; Respiratory Insufficiency/mortality/*therapy

Objective To explore a method of subsection adjustment for the proportion of three capacity nutrients in patients with metabolic syndrome (MS).Methods Totally 334 MS patients who were diagnosed in the physical examination center and the department of endocrinology and nutrition of Xi'an Central Hospital Affiliated to Xi'an Jiaotong University of School of Medicine were enrolled in this study.According to calculator random digital method,the patients were divided into intervention group (n=168) and the control group (n=166).The energy of two groups were calculated according to the following formula,y =13.5-0.025x1 + 0.215x2-0.006x3+0.342x4-0.268x5+0.623x6 (x1:age,x2:activity intensity index,x3:waist circumference,x4:environmental temperature,x5:BMI,x6:sex).The limit of daily energy was set to 5.02-7.53 MJ.The proportion of the three major nutrients for energy was adjusted of different energy segments of intervention group.When the daily energy was 5.02 MJ,the protein energy ratio was 30％,and the energy increased by 0.42 MJ per time while the protein energy supply ratio was reduced by 2.5％.The energy ratio of carbohydrate was 40％,and the energy increased 0.42 MJ per time while the energy ratio increased by 2.5％.The energy ratio of fat was 30％ on various stages of energy supply.The energy proportions of the three major nutrients in the control group were as follows:protein 15％,fat 25％,and carbohydrate 60％.Results After the intervention by 6 months,the 2-hour postprandial blood glucose of intervention group decreased from (9.22±5.57) mmol/L to (6.05±4.68) mmol/L,the hemoglobin A 1 c decreased from (6.79 ± 1.12) ％ to (5.56± 1.32) ％,and the triglyceride decreased from (3.14±1.73) mmol/L to (1.72±1.17) mmol/L.There was significant difference compared with those in control group (P =0.000,0.027,0.034).Conclusion The proportions of the three major nutrients in MS can remarkably improve the glucose and lipid metabolism in MS patients.

Objective: The random forest algorithm was used to construct a rapid screening diagnostic prediction model for children with autism spectrum disorder, to provide the references for early detection, early diagnosis of ASD children, and to reduce the pressure of ASD clinical diagnosis and assessment. Methods: The random forest algorithm of machine learning was applied to build the auxiliary diagnosis model. Totally 346 ASD children and 90 normal children were evaluated by Social Responsiveness Scale and Vineland Adaptive Behavior Scales. ROC curve, and accuracy was used to evaluate the models. Results: Among the models, the accuracy of 13 feature factors and 7 feature factors were above 0.9, the sensitivity was up to 0.927, the specificity was up to 0.936 and the AUC was up to 0.979. The accuracy, sensitivity, specificity and AUC of the model were 0.943,0.959,0.931 and 0.978 respectively. The fitting and generalization effects of the three models were all satisfactory. Conclusion A random forest model based on the SRS Scales and Vineland Adaptive Behavior Scales can be used to diagnose ASD accurately and provide scientific basis for the development of rapid screening and diagnosis tools.

Diabetic nephropathy (DN) is one of the most common complications of diabetes mellitus, which is characterized in renal tubulointerstitial fibrosis (TIF). The current study was designed to investigate the protective effect of Jujuboside A (Ju A) on TIF in type 2 diabetes (T2DM) mice, and explore its underlying anti-fibrosis mechanism. A mouse T2DM model was established using high fat diet (HFD) feeding combined with intraperitoneal injection of streptozotocin (STZ). Then, diabetic mice were treated with Ju A (10, 20 and 40 mg·kg^-1·d^-1, i.g.) for 12 weeks. Results showed that administration of Ju A not only down-regulated fasting blood glucose (FBG) levels, but also improved hyperlipidemia and renal function in diabetic mice. Moreover, the reduced ECM accumulation was observed in the renal cortex of Ju A treated diabetic mice, while the TIF progression was also attenuated by Ju A through blocking the epithelial-to-mesenchymal transition (EMT) of renal tubular epithelial cells (RTECs). Further mechanism studies showed that Ju A treatment effectively down-regulated the protein expression and subsequent nuclear translocation of Yin Yang 1 (YY1) in the renal cortex of diabetic mice, and reduced the levels of transforming growth factor-β1 (TGF-β1) in the serum and renal cortex of Ju A treated mice. According to invitro studies, the up-regulated YY1/TGF-β1 signaling pathway was restored by Ju A in high glucose (HG) cultured HK-2 cells. Taken together, these findings demonstrated that Ju A can ameliorate the TIF of DN through down-regulating the YY1/TGF-β1 signaling pathway.
Animals ; Blood Glucose ; Diabetes Mellitus, Experimental/metabolism* ; Diabetes Mellitus, Type 2/drug therapy* ; Diabetic Nephropathies/metabolism* ; Fibrosis ; Mice ; Saponins ; Signal Transduction ; Streptozocin ; Transforming Growth Factor beta1/metabolism*