Wattsegelund5675

BACKGROUND Congenital chloride diarrhea (CLD; OMIM 214700) is a rare autosomal recessive disorder caused by pathogenic variations in the solute carrier family 26 member A3 (SLC26A3) gene. Without salt substitution, this chronic diarrheal disorder causes severe dehydration and electrolyte disturbances. Homozygous variants in the nearby gene SLC26A4 disrupt anion exchange in the inner ear and the thyroid, causing Pendred syndrome (PDS; OMIM 274600), which is the most frequent form of syndromic deafness. CASE PRESENTATION We report an unusual co-occurrence of two rare homozygous mutations in both the SLC26A3 and SLC26A4 genes, causing a rare combination of both CLD and PDS in two siblings. Although the clinical pictures were typical, the combined loss of these anion transporters might modulate the risk of renal injury associated with CLD. CONCLUSIONS Familial presentation of two rare autosomal recessive disorders with loss of function of different SLC26 anion transporters is described. Independent homozygous variants in the SLC26A3 and SLC26A4 genes cause CLD and PDS in siblings, shedding light on co-occurrence of rare recessive traits in the progeny of consanguineous couples.BACKGROUND Lack of accurate and effective assessment tools of fluid status is one of the major challenges to reach proper dry weight (DW) in chronic hemodialysis (HD) population. The aim of this randomized study was to evaluate the effect of bioimpedance guided DW assessment on long-term outcomes in Chinese HD patients. Eligible patients were randomly assigned (11) to two groups in each center, the control group and body composition monitor (BCM) group. In the BCM group, DW has been evaluated by bioimpedance technic every 2 months during follow-up. The primary composite endpoint consisted of death, acute myocardial infarction, cerebral infarction, cerebral hemorrhage, and peripheral vascular disease. METHODS A total of 445 patients were recruited from 11 hemodialysis centers from Beijing, Tianjin and Shijiazhuang cities from Jan 1, 2013 to Dec 31, 2014. They were randomized into either BCM group or control group. All patients have been followed up for 1 year or until Dec 31, 2014 or censoring. RESULTS At base needed to investigate the survival benefit of bioimpedance method in DW assessment in a larger sample with longer follow-up period. TRIAL REGISTRATION ClinicalTrials.org, NCT01509937. Registered 13 January 2012.BACKGROUND Lactobacillus species are used as probiotics and play an important role in fermented food production. However, use of 16S rRNA gene sequences as standard markers for the differentiation of Lactobacillus species offers a very limited scope, as several species of Lactobacillus share similar 16S rRNA gene sequences. BIBW2992 nmr In this study, we developed a rapid and accurate method based on comparative genomic analysis for the identification of 37 Lactobacillus species that are commonly used in probiotics and fermented foods. RESULTS To select species-specific sequences or genes, a total of 180 Lactobacillus genome sequences were compared using Python scripts. In 14 out of 37 species, species-specific sequences could not be found due to the similarity of the 16S-23S rRNA gene. Selected unique genes were obtained using comparative genomic analysis and all genes were confirmed to be specific for 52,478,804 genomes via in silico analysis; they were found not to be strain-specific, but to exist in all strains of theobacillus species in foods such as probiotics and dairy products.BACKGROUND Murine kobuviruses (MuKV) are newly recognized picornaviruses first detected in murine rodents in the USA in 2011. Little information on MuKV epidemiology in murine rodents is available. Therefore, we conducted a survey of the prevalence and genomic characteristics of rat kobuvirus in Guangdong, China. RESULTS Fecal samples from 223 rats (Rattus norvegicus) were collected from Guangdong and kobuviruses were detected in 12.6% (28) of samples. Phylogenetic analysis based on partial 3D and complete VP1 sequence regions showed that rat kobuvirus obtained in this study were genetically closely related to those of rat/mouse kobuvirus reported in other geographical areas. Two near full-length rat kobuvirus genomes (MM33, GZ85) were acquired and phylogenetic analysis of these revealed that they shared very high nucleotide/amino acids identity with one another (95.4%/99.4%) and a sewage-derived sequence (86.9%/93.5% and 87.5%/93.7%, respectively). Comparison with original Aichivirus A strains, such human kobuvirus, revealed amino acid identity values of approximately 80%. CONCLUSION Our findings indicate that rat kobuvirus have distinctive genetic characteristics from other Aichivirus A viruses. Additionally, rat kobuvirus may spread via sewage.BACKGROUND The Chinese government introduced the maternal health services as part of the Basic Public Health Service (BPHS) project in 2009. While China has made progress in reducing maternal mortality, the longitudinal association between the utilization rate of the maternal health services of the BPHS project and such reduction was rarely evaluated with robust methods. METHODS We conducted a longitudinal study on the maternal health service utilization rates of the BPHS project and the maternal mortality ratios (MMR) in mainland China and its 31 provincial regions. The data were extracted from the National Health Statistic Yearbooks (2009-2016). Panel data models were used to evaluate the association between the utilization rate and the MMR after adjusting for available covariates on healthcare resources. Stepwise regression models were used to gauge the direction and magnitude of omitted variable bias. RESULTS It was found that the service utilization rate increased from 79.24% in 2009 to 91.67% in 2016, while MMR decreased from 30.90 to 17.88 per 100,000 livebirths at the national level. The results of the fixed effects panel data model revealed that the utilization rate was associated with MMR deduction continuously. With every 1% increase in utilization rate, the maternal death would decrease by 0.35 per 100,000 livebirths after having the health resources variables adjusted. CONCLUSIONS The utilization of maternal health services increased continuously after the introduction of BPHS project in 2009 and MMR went downward from then on. The utilization of maternal health services did have significant association with MMR and could reduce MMR effectively. Such improvement could be attributed to the fact that this program was designed to serve the targeted population throughout the continuum of maternal care and the government's rigorous efforts in stressing equality and standard care in program implementation.