A Novel Missense Variant Located Within the Zinc Finger Domain of the GLI3 Gene Was Identified in a Vietnamese Pedigree With Index Finger Polydactyly

BACKGROUND: Polydactyly, particularly of the index finger, remains an intriguing anomaly for which no specific gene or locus has been definitively linked to this phenotype. In this study, we conducted an investigation of a three-generation family displaying index finger polydactyly. METHODS: Exome sequencing was conducted on the patient, with a filtration to identify potential causal variation. Validation of the obtained variant was conducted by Sanger sequencing, encompassing all family members. RESULTS: Exome analysis uncovered a novel heterozygous missense variant (c.1482A\u3eT; p.Gln494His) at the zinc finger DNA-binding domain of the GLI3 protein within the proband and all affected family members. Remarkably, the variant was absent in unaffected individuals within the pedigree, underscoring its association with the polydactyly phenotype. Computational analyses revealed that GLI3 p.Gln494His impacts a residue that is highly conserved across species. CONCLUSION: The GLI3 zinc finger DNA-binding region is an essential part of the Sonic hedgehog signaling pathway, orchestrating crucial aspects of embryonic development through the regulation of target gene expression. This novel finding not only contributes valuable insights into the molecular pathways governing polydactyly during embryonic development but also has the potential to enhance diagnostic and screening capabilities for this condition in clinical settings

PATHOGENICITY OF EIMERIA SPECIES ISOLATED FROM CHICKEN IN THUA THIEN HUE PROVINCE

Abstract: The present study clarifies the effect of locally isolated Eimeria species on chickens in central Vietnam. Oocysts of Eimeria species were isolated from feces suspected to be infected with coccidiosis in 3 farms in Huong Thuy district, Thua Thien Hue province. A total of 54 2-week-old chickens were randomly allocated to 2 groups: 3 replicates containing 9 chickens in each replicate. The chicken in group 1 were orally inoculated with 2×104 isolated oocysts of Eimeria species, while the chickens in group 2 were inoculated with PBS as a control. Growth performance, oocyst output, gross lesions, and histopathological lesions were measured at 5, 10 and 28 days after infection. The chicks in group 1 showed general signs of ruffled feathers, anorexia, huddling together with diarrhea and/or bloody dropping from 4–7 days post-infection. Feed intake, growth performance and body weight in group 1 were lower than those of the control chicks. The oocyst was detected in the feces of chicks in group 1 from 6–14 days post-infection, among them, the number of oocysts reach the peak at 8 days post-infection. At day 5 post-infection, the most damaged part of the intestine is the ceca with a large amount of blood in the ceca content. The histopathological lesions were detected clearly by HE staining at day 5 and 10 post-infection. In conclusion, the locally isolated oocysts of Eimeria species have high virulence to the chickens. The present study provides useful information related to the pathogenicity of Eimeria species which may contribute to coccidiosis diagnosis and treatment in poultry production.Keywords: Eimeria, coccidiosis, infection, central Vietna

AMRomics: a scalable workflow to analyze large microbial genome collections

Whole genome analysis for microbial genomics is critical to studying and monitoring antimicrobial resistance strains. The exponential growth of microbial sequencing data necessitates a fast and scalable computational pipeline to generate the desired outputs in a timely and cost-effective manner. Recent methods have been implemented to integrate individual genomes into large collections of specific bacterial populations and are widely employed for systematic genomic surveillance. However, they do not scale well when the population expands and turnaround time remains the main issue for this type of analysis. Here, we introduce AMRomics, an optimized microbial genomics pipeline that can work efficiently with big datasets. We use different bacterial data collections to compare AMRomics against competitive tools and show that our pipeline can generate similar results of interest but with better performance. The software is open source and is publicly available at https://github.com/amromics/amromics under an MIT license

Synthesis of Silica-Coated Magnetic Nanoparticles and Application in the Detection of Pathogenic Viruses

Magnetic Fe3O4 nanoparticles were prepared by coprecipitation and then coated with silica. These Fe3O4/SiO2 nanoparticles consisted of a 10–15 nm magnetic core and a silica shell of 2–5 nm thickness. The superparamagnetic property of the Fe3O4/SiO2 particles with the magnetization of 42.5 emu/g was confirmed by vibrating sample magnetometer (VSM). We further optimized buffers with these Fe3O4/SiO2 nanoparticles to isolate genomic DNA of hepatitis virus type B (HBV) and of Epstein-Barr virus (EBV) for detection of the viruses based on polymerase chain reaction (PCR) amplification of a 434 bp fragment of S gene specific for HBV and 250 bp fragment of nuclear antigen encoding gene specific for EBV. The purification efficiency of DNA of both HBV and EBV using obtained Fe3O4/SiO2 nanoparticles was superior to that obtained with commercialized Fe3O4/SiO2 microparticles, as indicated by (i) brighter PCR-amplified bands for both HBV and EBV and (ii) higher sensitivity in PCR-based detection of EBV load (copies/mL). The time required for DNA isolation using Fe3O4/SiO2 nanoparticles was significantly reduced as the particles were attracted to magnets more quickly (15–20 s) than the commercialized microparticles (2-3 min)

Direct Observation of Exceptional Points in Photonic Crystal by Cross-Polarization Imaging in Momentum Space

This study explores exceptional points (EPs) in photonic crystals (PhCs) and introduces a novel method for their single-shot observation. Exceptional points are spectral singularities found in non-Hermitian systems, such as leaky PhC slabs. However, directly observing EPs in PhC systems using regular reflectivity spectroscopy is a considerable challenge due to interference between guided resonances and background signals. In this work, we present a simple, nondestructive technique that employs crossed polarizations to directly observe EPs in momentum-resolved resonant scattering. This approach effectively suppresses the background signal, enabling exclusive probing of the guided resonances where EPs manifest. Our results demonstrate the formation of EPs in both energy-momentum mapping and isofrequency imaging. All experimental findings align seamlessly with numerical simulations and analytical models. Our approach holds great potential as a robust tool for studying non-Hermitian physics in PhC platform

Prevalence of arterial hypertension in Vietnamese seafarers aboard merchant vessels: a cross-sectional study

Background: Hypertension is one of the leading causes of morbidity and mortality globally. It is a major riskfactor for major cardiovascular events such as stroke, myocardial infarction, heart failure, kidney failure,and blindness. The aim of this research is to assess the prevalence and some factors related to arterialhypertension on Vietnamese seafarers aboard merchant vessels.Materials and methods: Seven hundred eight Vietnamese seafarers working aboard merchant ships wereexamined at the Institute of Marine Medicine before going to sea during the period from January 2022to December 2022. It was a cross-sectional descriptive epidemiological study. The following parameterswere measured: blood pressure, height, weight, waist circumference, buttock circumference to assess theprevalence of hypertension, overweight, and obesity. Seafarers we directly interviewed about workplaceon ships and physical exercise, smoking tobacco, alcohol abuse, and anxiety symptoms to identify severalfactors associated with hypertension.Results: The prevalence of hypertension in seafarers was 32.9%, prehypertension 26.4%, overweight32.4%, obesity 13.3%, abdominal obesity 47.7%. Factors related to hypertension of seafarers included: jobduration at sea > 10 years, odds ratio (OR) = 8.23 (95% confidence interval [CI] 4.34–17.27); non-officers,OR = 2.11 (95% CI 1.45–2.82); engine room crew, OR = 2.11 (95% CI 1.45–3.58); obesity, OR = 3.34(95% CI 2.15–5.63); abdominal obesity, OR = 9.12 (95% CI 4.23–18.45); current smoking, OR = 1.32(95% CI 1.02–1.99); irregular exercise, OR =1.43 (95% CI 1.03–2.18); anxiety symptoms, OR = 1.56 (95%CI 1.08–2.27).Conclusions: Hypertension is a health problem for Vietnamese seafarers. To minimise hypertension, seafarersneed to adjust their lifestyle, increase regular exercise and improve psychological issues on board

Analysis of Antimicrobial Resistance in Non-typhoidal Salmonella Collected From Pork Retail Outlets and Slaughterhouses in Vietnam Using Whole Genome Sequencing.

Non-typhoidal salmonella (TS) remains a significant health burden worldwide. In Vietnam, pork accounts for 70% of the total meat consumed, and contamination with Salmonella is high. High levels of antimicrobial resistance (AMR) have emerged among porcine NTS and of particular concern is the emergence of colistin resistance, a "last defense" antibioic against multi-drug resistant (MDR) Gram-negative pathogens. This study aimed to investigate the antibiotic susceptibility of 69 NTS isolates collected from the pork retail outlets and slaughterhouses in Vietnam during 2014 a nd 2018/19. Phenotypic testing and whole genome sequencing was used to assess the serotype and AMR gene profiles of the 69 NTS isolates. Seventeen different serotypes were identified, of which S. enterica subsp enterica serotype Typhimurium was the most common followed by S. ser. Rissen, S. ser. London, S. ser. Anatum, and S. ser. Derby. Phenotype AMR was common with 41 (59.4%) isolates deemed MDR. MDR strains were most common in slaughterhouses (83%) and supermarkets (75%) and lowest in traditional markets (38%) and convenience stores (40%). Colistin resistance was identified in 18 strains (15 resistant, three intermediate) with mcr-1 identified in seven isolates (S. ser. Meleagridis, S. Rissen, S. Derby) and mcr-3 in two isolates (S. Typhimurium). This includes the first mcr positive S. Meleagridis to our knowledge. Surprisingly, boutique stores had high levels (60%) of MDR isolates including 5/20 isolates with mcr-1. This study demonstrates that pork from modern retail stores classed as supermarkets or boutique (with pork claiming to be high quality, traceable, environmentally friendly marketed toward higher income consumers) still contained NTS with high levels of AMR