Conforming an Extracorporeal Lithotripter System for Video Urodynamic Studies

Objectives: This study aimed to evaluate the efficiency using existing fluoroscopic unit and lithotripter table of an extracorporeal lithotripter system for video urodynamic studies (VUDS) to determine anatomical abnormalities in patients with neurogenic lower urinary tract dysfunction (NLUTD). Methods: The extracorporeal lithotripsy system was adapted to obtain optimum fluoroscopic view according to body shape and observed organs of patients. We reviewed the VUDS data of 25 patients with NLUTD. Results: “Christmas tree bladder” (CTB) was found in 5 (20%) patients. Vesicoureteral reflux (VUR) and external detrusor sphincter dyssynergia (DESD) were detected in 3 (12%) and 4 (16%) patients, respectively. Four (16%) patients with normal coordination between detrusor contraction and external sphincter relaxation were proven by VUDS. CTB, VUR, or DESD was not observed in 10 (40%) patients with flaccid bladder. Hematuria, urinary tract infection, or autonomic dysreflexia did not occur in any of the patients. Conclusions: VUDS can discern anatomical abnormalities of the urinary tract, and patients in undeveloped areas of the world who have NLUTD can have easier access to VUDS because of the decreasing capital cost of VUDS

Genome-Wide Expression Analysis in Down Syndrome: Insight into Immunodeficiency

Down syndrome (DS) is caused by triplication of Human chromosome 21 (Hsa21) and associated with an array of deleterious phenotypes, including mental retardation, heart defects and immunodeficiency. Genome-wide expression patterns of uncultured peripheral blood cells are useful to understanding of DS-associated immune dysfunction. We used a Human Exon microarray to characterize gene expression in uncultured peripheral blood cells derived from DS individuals and age-matched controls from two age groups: neonate (N) and child (C). A total of 174 transcript clusters (gene-level) with eight located on Hsa21 in N group and 383 transcript clusters including 56 on Hsa21 in C group were significantly dysregulated in DS individuals. Microarray data were validated by quantitative polymerase chain reaction. Functional analysis revealed that the dysregulated genes in DS were significantly enriched in two and six KEGG pathways in N and C group, respectively. These pathways included leukocyte trans-endothelial migration, B cell receptor signaling pathway and primary immunodeficiency, etc., which causally implicated dysfunctional immunity in DS. Our results provided a comprehensive picture of gene expression patterns in DS at the two developmental stages and pointed towards candidate genes and molecular pathways potentially associated with the immune dysfunction in DS

Acetate favors more phosphorus accumulation into aerobic granular sludge than propionate during the treatment of synthetic fermentation liquor

Anaerobic digestion (AD) is an efficient biotechnology widely applied for energy and resource recovery from organic waste and wastewater treatment. The effluent from AD or fermentation liquor containing organic substances like volatile fatty acids (VFAs) and mineral nutrients (such as N and P), however, will trigger serious environmental issues if not properly dealt with. In this study two identical sequencing batch reactors (SBRs), namely Ra and Rp were used to cultivate aerobic granules for P recovery from synthetic fermentation liquor, respectively using acetate and propionate as additional carbon source. Larger and more stable granules were achieved in Ra with higher P removal capability (9.4 mg P/g-VSS·d) and higher anaerobic P release (6.9 mg P/g-VSS·h). In addition to much higher P content (78 mg P/g-SS), bioavailable P in Ra-granules increased to 45 mg P/g-SS, approximately 2-times those of seed sludge and Rp-granules. Microbial community analysis indicated that more GAOs were accumulated in Rp-granules

Prognostic analysis of cT1-3N1M0 breast cancer patients who have responded to neoadjuvant therapy undergoing various axillary surgery and breast surgery based on propensity score matching and competitive risk model

BackgroundSentinel lymph node biopsy (SLNB) in breast cancer patients with positive clinical axillary lymph nodes (cN1+) remains a topic of controversy. The aim of this study is to assess the influence of various axillary and breast surgery approaches on the survival of cN1+ breast cancer patients who have responded positively to neoadjuvant therapy (NAT).MethodsPatients diagnosed with pathologically confirmed invasive ductal carcinoma of breast between 2010 and 2020 were identified from the Surveillance, Epidemiology, and End Results (SEER) database. To mitigate confounding bias, propensity score matching (PSM) analysis was employed. Prognostic factors for both overall survival (OS) and breast cancer-specific survival (BCSS) were evaluated through COX regression risk analysis. Survival curves were generated using the Kaplan-Meier method. Furthermore, cumulative incidence and independent prognostic factors were assessed using a competing risk model.ResultsThe PSM analysis matched 4,890 patients. Overall survival (OS) and BCSS were slightly worse in the axillary lymph node dissection (ALND) group (HR = 1.10, 95% CI 0.91-1.31, p = 0.322 vs. HR = 1.06, 95% CI 0.87-1.29, p = 0.545). The mastectomy (MAST) group exhibited significantly worse OS and BCSS outcomes (HR = 1.25, 95% CI 1.04-1.50, p = 0.018 vs. HR = 1.37, 95% CI 1.12-1.68, p = 0.002). The combination of different axillary and breast surgery did not significantly affect OS (p = 0.083) but did have a significant impact on BCSS (p = 0.019). Competing risk model analysis revealed no significant difference in the cumulative incidence of breast cancer-specific death (BCSD) in the axillary surgery group (Grey’s test, p = 0.232), but it showed a higher cumulative incidence of BCSD in the MAST group (Grey’s test, p = 0.001). Multivariate analysis demonstrated that age ≥ 70 years, black race, T3 stage, ER-negative expression, HER2-negative expression, and MAST were independent prognostic risk factors for both OS and BCSS (all p < 0.05).ConclusionFor cN1+ breast cancer patients who respond positive to NAT, the optimal surgical approach is combining breast-conserving surgery (BCS) with SLNB. This procedure improves quality of life and long-term survival outcomes

Comparative proteomic analysis reveals alterations in development and photosynthesis-related proteins in diploid and triploid rice

Six pairs of primers were designed for gene-specific transcript amplification. (DOC 25 kb

Distribution, fluxes and decadal changes of nutrients in the Jiulong River Estuary, Southwest Taiwan Strait

The Jiulong River Estuary (JRE) is a typical subtropical macro-tide estuary on the southwest coast of the Taiwan Strait (TWS), which has been greatly impacted by human activities over the past 30 years. To understand nutrient dynamics and fluxes under such a heavy background of anthropogenic perturbation, eight cruises were conducted from April 2008 to April 2011, covering both wet (May to September) and dry (October to April next year) seasons. Nutrient concentrations were very high for the freshwater end-member in the upper reach of the JRE (nitrate (NO3-N): 120-230 mu mol L-1; nitrite (NO2-N): 5-15 mu mol L-1; ammonium (NH4-N): 15-170 mu mol L-1; soluble reactive phosphorus (SRP): 1.2-3.5 mu mol L-1; dissolved silicate (DSi): 200-340 mu mol L-1). In dry seasons, concentrations of these nutrients were higher than in wet seasons. Nitrate was the dominant chemical species of dissolved inorganic nitrogen (DIN), with percentages of 67%-96% in wet seasons and 55%-72% in dry seasons. Distributions of NO3-N and DSi against salinity were nearly constant during all cruises, and showed generally conservative mixing behaviors in the estuary (1 < Salinity < 32). The concentrations of SRP varied within a narrow range of 1.0-2.0 mu mol L-1 in low/middle salinity areas, and they were quickly diluted by relatively oligotrophic near-shore seawater in the high salinity region. Based on a temporally high-resolution water discharge dataset, riverine fluxes of DIN, SRP and DSi into the JRE were calculated at 34.3x10(3) t N a(-1), 0.63x10(3) t P a(-1) and 72.7x10(3) t Si a(-1), respectively. In comparison, estuarine export fluxes of DIN, SRP and DSi from the JRE to the TWS were estimated at 34.8x10(3) t N a(-1), 0.82x10(3) t P a(-1) and 71.6x10(3) t Si a(-1). The estuarine addition flux of SRP was independently estimated at 0.16x10(3) t P a(-1). In comparison with major world rivers, the Jiulong River shows a very high areal yield rate of NO3-N. In comparison with historical datasets from 1980s-1990s, concentrations of NO3-N and SRP increased 2-3 times in upper/middle areas of the JRE, while DSi remained at the same level. The latter is much different from decadal nutrient changes in the Mississippi River and the Yangtze River/Estuary. Such nutrient changes may fundamentally contribute to recent red tide events in the JRE and adjacent Xiamen Bay.National Natural Science Foundation of China (NSFC) [40810069004]; National Basic Research Program of China [2009CB421204]; State Oceanic Administration of China [DOMEP-MEA-01-10

A Novel Splicing Mutation Alters DSPP Transcription and Leads to Dentinogenesis Imperfecta Type II

Dentinogenesis imperfecta (DGI) type II is an autosomal dominant disease characterized by a serious disorders in teeth. Mutations of dentin sialophosphoprotein (DSPP) gene were revealed to be the causation of DGI type II (DGI-II). In this study, we identified a novel mutation (NG_011595.1:g.8662T>C, c.135+2T>C) lying in the splice donor site of intron 3 of DSPP gene in a Chinese Han DGI-II pedigree. It was found in all affected subjects but not in unaffected ones or other unrelated healthy controls. The function of the mutant DSPP gene, which was predicted online and subsequently confirmed by in vitro splicing analysis, was the loss of splicing of intron 3, leading to the extended length of DSPP mRNA. For the first time, the functional non-splicing of intron was revealed in a novel DSPP mutation and was considered as the causation of DGI-II. It was also indicated that splicing was of key importance to the function of DSPP and this splice donor site might be a sensitive mutation hot spot. Our findings combined with other reports would facilitate the genetic diagnosis of DGI-II, shed light on its gene therapy and help to finally conquer human diseases

An atlas of DNA methylomes in porcine adipose and muscle tissues

It is evident that epigenetic factors, especially DNA methylation, have essential roles in obesity development. Here, using pig as a model, we investigate the systematic association between DNA methylation and obesity. We sample eight variant adipose and two distinct skeletal muscle tissues from three pig breeds living within comparable environments but displaying distinct fat level. We generate 1,381 Gb of sequence data from 180 methylated DNA immunoprecipitation libraries, and provide a genome-wide DNA methylation map as well as a gene expression map for adipose and muscle studies. The analysis shows global similarity and difference among breeds, sexes and anatomic locations, and identifies the differentially methylated regions. The differentially methylated regions in promoters are highly associated with obesity development via expression repression of both known obesity-related genes and novel genes. This comprehensive map provides a solid basis for exploring epigenetic mechanisms of adipose deposition and muscle growth

Dietary Modulation of Gut Microbiota Contributes to Alleviation of Both Genetic and Simple Obesity in Children

Gut microbiota has been implicated as a pivotal contributing factor in diet-related obesity; however, its role in development of disease phenotypes in human genetic obesity such as Prader–Willi syndrome (PWS) remains elusive. In this hospitalized intervention trial with PWS (n = 17) and simple obesity (n = 21) children, a diet rich in non-digestible carbohydrates induced significant weight loss and concomitant structural changes of the gut microbiota together with reduction of serum antigen load and alleviation of inflammation. Co-abundance network analysis of 161 prevalent bacterial draft genomes assembled directly from metagenomic datasets showed relative increase of functional genome groups for acetate production from carbohydrates fermentation. NMR-based metabolomic profiling of urine showed diet-induced overall changes of host metabotypes and identified significantly reduced trimethylamine N-oxide and indoxyl sulfate, host-bacteria co-metabolites known to induce metabolic deteriorations. Specific bacterial genomes that were correlated with urine levels of these detrimental co-metabolites were found to encode enzyme genes for production of their precursors by fermentation of choline or tryptophan in the gut. When transplanted into germ-free mice, the pre-intervention gut microbiota induced higher inflammation and larger adipocytes compared with the post-intervention microbiota from the same volunteer. Our multi-omics-based systems analysis indicates a significant etiological contribution of dysbiotic gut microbiota to both genetic and simple obesity in children, implicating a potentially effective target for alleviation

Identification of Close Relatives in the HUGO Pan-Asian SNP Database

The HUGO Pan-Asian SNP Consortium has recently released a genome-wide dataset, which consists of 1,719 DNA samples collected from 71 Asian populations. For studies of human population genetics such as genetic structure and migration history, this provided the most comprehensive large-scale survey of genetic variation to date in East and Southeast Asia. However, although considered in the analysis, close relatives were not clearly reported in the original paper. Here we performed a systematic analysis of genetic relationships among individuals from the Pan-Asian SNP (PASNP) database and identified 3 pairs of monozygotic twins or duplicate samples, 100 pairs of first-degree and 161 second-degree of relationships. Three standardized subsets with different levels of unrelated individuals were suggested here for future applications of the samples in most types of population-genetics studies (denoted by PASNP1716, PASNP1640 and PASNP1583 respectively) based on the relationships inferred in this study. In addition, we provided gender information for PASNP samples, which were not included in the original dataset, based on analysis of X chromosome data