scholarly journals Oligogenic heterozygous inheritance of sperm abnormalities in mouse

2021 ◽  
Author(s):  
Guillaume Martinez ◽  
Charles Coutton ◽  
Corinne Loeuillet ◽  
Caroline Cazin ◽  
Jana Muroňová ◽  
...  
Keyword(s):  
High Throughput Sequencing ◽  
Sperm Morphology ◽  
Significant Proportion ◽  
Health Concern ◽  
Genetic Etiology ◽  
Linked Gene ◽  
Sperm Abnormalities ◽  
Important Health ◽  
Oligogenic Inheritance ◽  
Gene Defects

Male infertility is an important health concern that is expected to have a major genetic etiology. Although high-throughput sequencing has linked gene defects to more than 50% of rare and severe sperm anomalies, less than 20% of common and moderate forms are explained. We hypothesized that this low success rate could at least be partly due to oligogenic defects – the accumulation of several rare heterozygous variants in distinct, but functionally connected, genes. Here, we compared fertility and sperm parameters in male mice harboring one to four heterozygous truncating mutations of genes linked to multiple morphological anomalies of the flagellum (MMAF) syndrome. Results indicated progressively deteriorating sperm morphology and motility with increasing numbers of heterozygous mutations. This first evidence of oligogenic inheritance in failed spermatogenesis strongly suggests that oligogenic heterozygosity could explain a significant proportion of asthenoteratozoospermia cases. The findings presented pave the way to further studies in mice and man.

scholarly journals Drug-Induced Acute Kidney Injury: A Study from the French Medical Administrative and the French National Pharmacovigilance Databases Using Capture-Recapture Method

2021 ◽  
Vol 10 (2) ◽  
pp. 168
Author(s):  
Anne-Lise Rolland ◽  
Anne-Sophie Garnier ◽  
Katy Meunier ◽  
Guillaume Drablier ◽  
Marie Briet
Keyword(s):  
Acute Kidney Injury ◽  
Medical Information ◽  
Significant Proportion ◽  
Kidney Injury ◽  
International Classification Of Diseases ◽  
Administrative Databases ◽  
Health Concern ◽  
Medical Information System ◽  
Drug Induced ◽  
Capture Recapture

Background: Acute kidney injury (AKI) is a public health concern. Among the pathological situations leading to AKI, drugs are preventable factors but are still under-notified. We aimed to provide an overview of drug-induced AKI (DIAKI) using pharmacovigilance and medical administrative databases Methods: A query of the PMSI database (French Medical Information System Program) of adult inpatient hospital stays between 1 January 2017 and 31 December 2018 was performed using ICD-10 (International Classification of Diseases 10th revision) codes to identify AKI cases which were reviewed by a nephrologist and a pharmacovigilance expert to identify DIAKI cases. In parallel, DIAKIs notified in the French Pharmacovigilance Database (FPVDB) were collected. A capture-recapture method was performed to estimate the total number of DIAKIs. Results: The estimated total number of DIAKIs was 521 (95%CI 480; 563), representing 20.0% of all AKIs. The notification was at a rate of 12.9% (95%CI 10.0; 15.8). According to the KDIGO classification, 50.2% of the DIAKI cases were stage 1 and 49.8% stage 2 and 3. The mortality rate was 11.1% and 9.6% required hemodialysis. Conclusion: This study showed that drugs are involved in a significant proportion of patients developing AKI during a hospital stay and emphasizes the severity of DIAKI cases.

scholarly journals Dietary fruits and arthritis

2018 ◽  
Vol 9 (1) ◽  
pp. 70-77 ◽  
Author(s):  
Arpita Basu ◽  
Jace Schell ◽  
R. Hal Scofield
Keyword(s):  
Quality Of Life ◽  
Global Health ◽  
Significant Proportion ◽  
Health Concern

Arthritis is a global health concern affecting a significant proportion of the population and associated with reduced quality of life.

scholarly journals An exploration of smokeless tobacco product nucleic acids: a combined metagenome and metatranscriptome analysis

2019 ◽  
Vol 104 (2) ◽  
pp. 751-763
Author(s):  
R. E. Tyx ◽  
A. J. Rivera ◽  
L. M. Keong ◽  
S. B. Stanfill
Keyword(s):  
Smokeless Tobacco ◽  
High Throughput Sequencing ◽  
Tobacco Product ◽  
Health Concern ◽  
Single Product ◽  
Virus Rna ◽  
Smokeless Tobacco Product ◽  
Viable Bacteria ◽  
Tobacco Specific Nitrosamines ◽  
Bacterial Constituents

AbstractSmokeless tobacco (ST) products are used worldwide and are a major public health concern. In addition to harmful chemicals found in these products, microbes found in ST products are believed to be responsible for generating harmful tobacco-specific nitrosamines (TSNAs), the most abundant carcinogens in ST. These microbes also contribute endotoxins and other pro-inflammatory components. A greater understanding of the microbial constituents in these products is sought in order to potentially link select design aspects or manufacturing processes to avoidable increases in harmful constituents. Previous studies looked primarily at bacterial constituents and had not differentiated between viable vs nonviable organisms, so in this study, we sought to use a dual metatranscriptomic and metagenomic analysis to see if differences exist. Using high-throughput sequencing, we observed that there were differences in taxonomic abundances between the metagenome and metatranscriptome, and in the metatranscriptome, we also observed an abundance of plant virus RNA not previously reported in DNA-only studies. We also found in the product tested, that there were no viable bacteria capable of metabolizing nitrate to nitrite. Therefore, the product tested would not be likely to increase TSNAs during shelf storage. We tested only a single product to date using the strategy presented here, but succeeded in demonstrating the value of using of these methods in tobacco products. These results present novel findings from the first combined metagenome and metatranscriptome of a commercial tobacco product.

Addictions: Gambling

2016 ◽  
Author(s):  
Lia Nower ◽  
Kyle Caler
Keyword(s):  
Social Workers ◽  
Gambling Disorder ◽  
Ad Hoc ◽  
Significant Proportion ◽  
The United States ◽  
Health Concern ◽  
Addictive Disorders ◽  
Significant Public Health Concern ◽  
Assessment And Treatment ◽  
Significant Public Health

Gambling disorder is a significant public health concern. The recent and continued proliferation of land-based and interactive gambling opportunities has increased both accessibility and acceptability of gambling in the United States and abroad, resulting in greater and more varied participation. However, there is currently no designated federal funding for prevention, intervention, treatment, or research, and states are left to adopt varying standards on an ad hoc basis. Social workers receive little or no training in screening or treating problem gamblers, though research suggests that a significant proportion of those with mental health and other addictive disorders also gamble excessively. Raising awareness about the nature and scope of gambling disorder and its devastating implications for families and children is a first-step toward integrating gambling into prevention, assessment and treatment education in social work. This, in turn, will increase the chances of early identification and intervention across settings and insure that social workers can lend a knowledgeable and credible voice to addressing this hidden addiction.

Effect of management systems and seasons on sperm abnormalities in Jamunapari bucks semen

2017 ◽  
Author(s):  
N. Ramachandran ◽  
N. P. Singh
Keyword(s):  
Analysis Of Variance ◽  
Sperm Morphology ◽  
Winter Season ◽  
Sperm Head ◽  
Management Systems ◽  
Sperm Abnormalities ◽  
The Mean ◽  
One Year

The sperm morphology of Jamunapari bucks reared under stall feeding (SF) and grazing cum supplementation (GS) systems was studied for continuous one year. The overall LSM for the head, midpiece, tail and total abnormal sperms were 0.95, 0.09, 0.41 and 1.97%, irrespective of management systems and seasons. The sperm head, midpiece, tail and total abnormality was significantly (P less than 0.01) higher in semen of GS bucks as compared to SF bucks. The mean head abnormal sperms irrespective of management systems were 0.71, 0.73 and 1.50 % in rainy, winter and summer seasons, respectively. The respective values for midpiece, tail and total abnormality were observed to be 0.24, 0.04, 0.05%; 0.67, 0.32, 0.30% and 2.05, 1.53, 2.38%. Analysis of variance indicated that all the sperm abnormalities varied significantly (P less than 0.01) among seasons. The results suggest that stall feeding and winter season is superior for harvesting spermatozoa with lower sperm abnormalities than other seasons and GS systems.

scholarly journals A New Niche for Anoxygenic Phototrophs as Endoliths

2017 ◽  
Vol 84 (4) ◽  
Author(s):  
Daniel Roush ◽  
Estelle Couradeau ◽  
Brandon Guida ◽  
Susanne Neuer ◽  
Ferran Garcia-Pichel
Keyword(s):  
High Throughput Sequencing ◽  
Microbial Mats ◽  
Hot Springs ◽  
Significant Proportion ◽  
Anoxygenic Phototrophic Bacteria ◽  
Major Type ◽  
Carbonate Platforms ◽  
Content Type ◽  
Wide Range ◽  
Isla De Mona

ABSTRACTAnoxygenic phototrophic bacteria (APBs) occur in a wide range of aquatic habitats, from hot springs to freshwater lakes and intertidal microbial mats. Here, we report the discovery of a novel niche for APBs: endoliths within marine littoral carbonates. In a study of 40 locations around Isla de Mona, Puerto Rico, and Menorca, Spain, 16S rRNA high-throughput sequencing of endolithic community DNA revealed the presence of abundant phylotypes potentially belonging to well-known APB clades. Anad hocphylogenetic classification of these sequences enabled us to refine the assignments more stringently. Even then, all locations contained such putative APBs, often reaching a significant proportion of all phototrophic sequences. In fact, in some 20% of samples, their contribution exceeded that of oxygenic phototrophs, previously regarded as the major type of endolithic microbe in carbonates. The communities contained representatives of APBs in theChloroflexales, various proteobacterial groups, andChlorobi. The most abundant phylotypes varied with geography: on Isla de Mona,RoseiflexusandChlorothrix-related phylotypes dominated, whereas those related toErythrobacterwere the most common in Menorca. The presence of active populations of APBs was corroborated through an analysis of photopigments: bacteriochlorophylls were detected in all samples, bacteriochlorophyllcandabeing most abundant. We discuss the potential metabolism and geomicrobial roles of endolithic APBs. Phylogenetic inference suggests that APBs may be playing a role as photoheterotrophs, adding biogeochemical complexity to our understanding of such communities. Given the global extent of coastal carbonate platforms, they likely represent a very large and unexplored habitat for APBs.IMPORTANCEEndolithic microbial communities from carbonates, which have been explored for over 2 centuries in predominantly naturalistic studies, were thought to be primarily composed of eukaryotic algae and cyanobacteria. Our report represents a paradigm shift in this regard, at least for the marine environment, demonstrating the presence of ubiquitous and abundant populations of APBs in this habitat. It raises questions about the role of these organisms in the geological dynamics of coastal carbonates, including coral reefs.

scholarly journals Investigation of Drinking Water Quality in Kosovo

2013 ◽  
Vol 2013 ◽  
pp. 1-9 ◽  
Author(s):  
Fatlume Berisha ◽  
Walter Goessler
Keyword(s):  
Drinking Water ◽  
Water Samples ◽  
Inductively Coupled Plasma ◽  
Tap Water ◽  
Health Concern ◽  
Inductively Coupled ◽  
Minor Elements ◽  
Important Health ◽  
Different Sources ◽  
Drinking Water Samples

In the recent years, not much environmental monitoring has been conducted in the territory of Kosovo. This study represents the first comprehensive monitoring of the drinking water situation throughout most of the territory of Kosovo. We present the distribution of major and minor trace elements in drinking water samples from Kosovo. During our study we collected 951 samples from four different sources: private-bored wells; naturally flowing artesian water; pumped-drilled wells; and public water sources (tap water). The randomly selected drinking water samples were investigated by routine water analyses using inductively coupled plasma mass spectrometry (ICPMS) for 32 elements (Li, Be, B, Na, Mg, Al, K, Ca, V, Cr, Mn, Fe, Co, Ni, Cu, Zn, Ga, As, Rb, Sr, Mo, Ag, Cd, Sn, Sb, Te, Ba, Tl, Pb, Bi, Th, U). Even though there are set guidelines for elemental exposure in drinking water worldwide, in developing countries, such as Kosovo, the lack of monitoring drinking water continues to be an important health concern. This study reports the concentrations of major and minor elements in the drinking water in Kosovo. Additionally, we show the variation of the metal concentration within different sources. Of the 15 regulated elements, the following five elements: Mn, Fe, Al, Ni, As, and U were the elements which most often exceeded the guidelines set by the EU and/or WHO.

scholarly journals Comparative Study of Abnormalities of the Spermocytogram between Manual Techniques versus Automated SCA (Sperm Class Analyzer)

2021 ◽  
Vol 04 (12) ◽  
Author(s):  
Zahra Ait Yachou ◽  
Keyword(s):  
Comparative Study ◽  
Sperm Morphology ◽  
Diagnostic Value ◽  
Human Semen ◽  
Morphological Evaluation ◽  
Sperm Abnormalities ◽  
Normal Sperm ◽  
Abnormal Sperm

It is already well established that the percentage of normal sperm and specific sperm abnormalities has diagnostic value in vivo. The spermocytogram is an important part of the analysis of human semen, this kind of analysis, simple at first sight, brings real difficulties because the results from one laboratory to another are very relatively reliable. When analyzing abnormal sperm morphology, the observer has to estimate the respective size of the different spermatozoa or their components, the length of all the spermatozoa (too small or too big) and to identify the shape (sperm with a coiled flagellum, or no flagellum as an example). The objective of our work is first of all to make a comparative study of the results of the morphological evaluation of 50 semen samples between the manual technique versus the automated one (SCA) in order to find a possible correlation between these two techniques. According to the analytical stage of the manual and automatic results, the two latter led us to obtain significantly different percentages.

scholarly journals Genetic Characterization of Salmonella Infantis with Multiple Drug Resistance Profiles Isolated from a Poultry-Farm in Chile

2021 ◽  
Vol 9 (11) ◽  
pp. 2370
Author(s):  
Coral Pardo-Esté ◽  
Diego Lorca ◽  
Juan Castro-Severyn ◽  
Gabriel Krüger ◽  
Luis Alvarez-Thon ◽  
...  
Keyword(s):  
Production Line ◽  
Core Genome ◽  
Genetic Characterization ◽  
Multiple Drug Resistance ◽  
Gene Clusters ◽  
Poultry Meat ◽  
Health Concern ◽  
Multiple Drug ◽  
Important Health

Salmonella comprises over 2500 serotypes and foodborne contamination associated with this pathogen remains an important health concern worldwide. During the last decade, a shift in serotype prevalence has occurred as traditionally less prevalent serotypes are increasing in frequency of infections, especially those related to poultry meat contamination. S. Infantis is one of the major emerging serotypes, and these strains commonly display antimicrobial resistance and can persist despite cleaning protocols. Thus, this work aimed to isolate S. Infantis strains from a poultry meat farm in Santiago, Chile and to characterize genetic variations present in them. We determined their genomic and phenotypic profiles at different points along the production line. The results indicate that the strains encompass 853 polymorphic sites (core-SNPs) with isolates differing from one another by 0–347 core SNPs, suggesting variation among them; however, we found discrete correlations with the source of the sample in the production line. Furthermore, the pan-genome was composed of 4854 total gene clusters of which 2618 (53.9%) corresponds to the core-genome and only 181 (3.7%) are unique genes (those present in one particular strain). This preliminary analysis will enrich the surveillance of Salmonella, yet further studies are required to assess their evolution and phylogeny.

scholarly journals Investigating colistin drug resistance: The role of high-throughput sequencing and bioinformatics

F1000Research ◽  
2019 ◽  
Vol 8 ◽  
pp. 150 ◽  
Author(s):  
Dickson Aruhomukama ◽  
Ivan Sserwadda ◽  
Gerald Mboowa
Keyword(s):  
Antibiotic Resistance ◽  
High Throughput ◽  
Bacterial Infections ◽  
High Throughput Sequencing ◽  
Health Concern ◽  
Gram Negative Bacteria ◽  
Drug Resistant ◽  
Colistin Resistance ◽  
Gram Negative

Bacterial infections involving antibiotic resistant gram-negative bacteria continue to increase and represent a major global public health concern. Resistance to antibiotics in these bacteria is mediated by chromosomal and/or acquired resistance mechanisms, these give rise to multi-drug resistant (MDR) or extensive drug resistant (XDR) bacterial strains. Most recently, a novel acquired plasmid mediated resistance mechanism to colistin, an antibiotic that had been set apart as the last resort antibiotic in the treatment of infections involving MDR and XDR gram-negative bacteria, has been reported. Plasmid mediated colistin resistant gram-negative bacteria have been described to be pan-drug resistant, implying a state devoid of alternative antibiotic therapeutic options. This review describes the evolution of antibiotic resistance to plasmid mediated colistin resistance, and discusses the potential role of high-throughput sequencing technologies, genomics and bioinformatics towards improving antibiotic resistance surveillance, the search for novel drug targets and precision antibiotic therapy focused at combating colistin resistance, and antimicrobial resistance as a whole.

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