Genotypic Profiles Research Articles

Whole-Genome Sequencing Analysis of Antimicrobial Resistance, Virulence Factors, and Genetic Diversity of Salmonella from Wenzhou, China

Salmonella species are important foodborne pathogens worldwide. Salmonella pathogenicity is associated with multiple virulence factors and enhanced antimicrobial resistance. To determine the molecular characteristics and genetic correlations of Salmonella, 24 strains of Salmonella isolated from different sources (raw poultry, human stool, and food) in the Wenzhou area were investigated to determine the distribution of antimicrobial resistance and virulence determinants using whole-genome sequencing (WGS). Aminoglycoside resistance genes were detected in all samples. Over half of the samples found antimicrobial resistance genes (ARGs) and point mutations for several clinically frequently used antibiotic, beta-lactams, tetracyclines, and quinolones. Of these strains, 62.5% were predicted to be multidrug-resistant (MDR). The quinolone-modifying enzyme gene aac(6’)-Ib-cr, detected in five samples (S1–S4 and S10), was located on integrons. The analysis of Salmonella pathogenicity island (SPI) profiles suggests that serotypes with close genetic relationships share the same distribution of virulence factors, revealing a link between genotype and SPI profiles. cgMLST analysis indicated that five isolates S14–S18 were closely related to strains originating from the United Kingdom, suggesting that they may share a common origin. Data from this study may enrich the molecular traceability database for Salmonella and provide a basis for effective public health policies.

Phenotypic expression, genotypic profiling and clinical outcomes of infantile hypertrophic cardiomyopathy: a retrospective study

BackgroundInfantile hypertrophic cardiomyopathy (HCM) is a heterogeneous disorder. Apart from registries in high-income nations, there is a shortage of data on the aetiological basis of infantile HCM in low- and...

IMPACT OF NITROGEN FERTILIZATION ON BREAD WHEAT: SCREENING FOR CHANGES IN QUALITY, ANTIOXIDANT AND ESSENTIAL AMINO ACID CONTENT

Wheat grain has a unique nutritional value and contains health-promoting and essential components in the daily human diet. Increasing consumer awareness of health and nutrition has led to a greater focus on sustainable and healthy wheat production in the face of climate change. The aim of this study was to determine the effect of nitrogen on yield and protein characteristics as well as antioxidant capacity and essential amino acid profile of bread wheat genotypes adapted to different ecological conditions. Different nitrogen doses (0, 60, 120 and 180 kg ha-1) were applied to 15 genotypes (3 lines, 1 hybrid and cultivars) with different growth habit to determine yield, quality, antioxidant and amino acid composition parameters. As a result of this study, total phenol content, antioxidant activity and gluten index of wheat decreased although grain yield potential increased in genotypes. In the results where the genetic factor is the primary focus, it was established that the responses to nitrogen fertilizer doses exhibited variability across different years particularly the case during the dry season. With regard to the YearxNitrogenxGenotype interaction, a notable increase was observed in total phenol content and antioxidant activity, while a decline was evident in yield, protein, and wet gluten parameters, particularly in the nitrogen dose applied during the dry season. The increase in protein content contributed significantly and positively to the essential amino acid composition. However, increasing the amount of some amino acids negatively affects others. The objective of this study is to identify and contribute insights into the impact of nitrogen factor on product quality, health and nutrition issues, grain yield potential of genotypes, plant breeding and agronomic studies.

Genomic epidemiology of ceftriaxone-resistant non-typhoidal Salmonella enterica strain in China

Non-typhoidal Salmonella (NTS) is one of the top causes of diarrhea worldwide. Ceftriaxone is commonly recommended as the initial treatment option for Salmonella infections due to its antibacterial effectiveness. The objective of this study was to investigate the molecular epidemiological characteristics of NTS and to compare the phenotypic and genotypic profiles of antimicrobial resistance in multidrug-resistant Salmonella strains by sequencing 329 NTS strains collected from a county-level hospital between 2018 and 2021. Multi-locus sequence typing (MLST), antimicrobial resistance genes and plasmid types were identified by BacWGSTdb 2.0 webserver. Phylogenetic analysis of all NTS strains was carried out using Snippy and Gubbins software. The transferability of ceftriaxone resistant plasmids was confirmed through plasmid conjugation assays, and verified by S1-PFGE-Southern blot assays. The predominant serotypes among all NTS strains were Typhimurium (161/329), Enteritidis (49/329) and London (45/329). The most common sequence type observed was ST34 (86/329), followed by ST19 (72/329) and ST11 (47/329). The antimicrobial resistance of Salmonella to a wide range of antimicrobials showed an overall increase. Out of these 37 (11.24%) ceftriaxone-resistant strains, with the majority of them (33/37) being blaCTX−M. The predominant plasmid types identified were IncHI2 (14/21) and IncI1 (6/21), ranging in size from 70 kb to 360 kb. The conjugation efficiency was calculated with the high conjugation efficiency of 1.1 × 10− 5 to 9.3 × 10− 2. The strains varied widely, ranging from 3 to 45,024 single nucleotide polymorphisms (SNPs). There are close linkages observed among the predominant lineage, with an average of 78 SNPs between each pair of ST34 strains. The findings contribute to our understanding of the transmission and resistance mechanisms of multidrug-resistant Salmonella, thereby facilitating the development of effective control strategies.

Serotypic and genotypic profile of dengue virus outbreaks in India between 2011 and 2017.

The epidemiology of dengue has been demonstrating significant changes in recent years, with rising incidence of infection in countries with known endemicity and occurrence of fresh outbreaks in previously unaffected territories. India, which has been a traditional hotspot dengue virus (DENV) transmission in the endemic south-east Asian region, has also been affected by the sweeping changes in dengue epidemiology. Two remarkable developments characterize the alterations witnessed by India 2011-2017. Firstly, all parts of the country have witnessed abrupt replacement of existing DENV lineages with emerging novel strains. Secondly, co-circulation of multiple serotypes of DENV have been reported from all across the country 2011-2017; thereby hinting at the transition of the country towards hyper-endemicity. Considering the potential clinical implications of such epidemiological transformation in terms increasing involvement of pediatric patients and growing predisposition to serious complications, the present review provides an update on the serotypic and genotypic profile of dengue outbreaks that have been witnessed by different zones of India between 2011 and 2017. Dividing the country into northern, southern, eastern, western, central and north-eastern zones, we describe discrete zone-specific distribution patterns of DENV serotypes and genotypes and observe simultaneous circulation of different DENV strains in different parts of the country. Random shifts in the genetic characteristics of the circulating strains and the widespread co- circulation of all four serotypes underscore the need for undertaking continuous and representative molecular surveillance of the circulating DENV strains across the country for prompt identification of emerging strains and novel mutants; gain insights into the formulation of Dengue vaccines and develop a clearer understanding of the molecular basis of immune evasion, disease epidemiology and pathogenesis.

Behavioural responses of Sitophilus granarius (L.) and Rhyzoperta dominica (F.) to odours of old and modern wheat genotypes

Sitophilus granarius (L.) and Rhyzopertha dominica (F.) are among the major stored-product pests worldwide. The identification of low or un-attractive wheat genotypes toward storage pests and their Volatile Organic Compounds (VOCs) profile is useful in breeding programs and in characterization of behaviourally active compounds suitable in developing semiochemical-based control means. Old wheat cultivars are genetic resources useful for breeding purposes. In this study, the VOC profiles of old genotypes, Senatore Cappelli, old Saragolla, Dauno III, and modern wheat varieties, Mec, Ofanto, Svevo, and Faridur, were characterized by headspace - solid phase microextraction (HD-SPME) and gaschromatography coupled with mass spectrometry (GC-MS) and their attractiveness towards S. granarius and R. dominica adults was evaluated in two-choice pitfall bioassays and Y-tube olfactometer, respectively. Sitophilus granarius adults were significantly attracted to odours of all varieties, with females being significantly more attracted by Faridur, Ofanto, Mec, and old Saragolla compared to Svevo. Rhyzopertha dominica males and females exhibited a significant olfactory preference for the odours of Faridur, Mec, and old Saragolla. The olfactory preferences of both species could be related to differences emerged in varietal VOC profiles. The most attractive variety for both species, Faridur, was rich in alcohols, alkanes, and terpenes. Old Saragolla, Ofanto, and Mec were rich in alcohols and organic acids. Dauno III was the richest variety in alcohols and lactones, and the poorest in aldehydes and terpenes compared to other varieties. Svevo showed the lowest amounts of alcohols and the highest value of aldehydes; Senatore Cappelli was rich in aldehydes, organic acids, and alkanes. The possible effects of the differences in VOC profiles on the olfactory preferences of insects are discussed. The study offers new knowledge for further investigation testing VOCs of the most and the lowest attractive varieties to identify effective attractants or strong repellents towards S. granarius and R. dominica.

Molecular Properties of Virulence and Antibiotic Resistance of Pseudomonas aeruginosa Causing Clinically Critical Infections.

The increase in the number of hospital strains of hypervirulent and multidrug resistant (MDR) Pseudomonas aeruginosa is a major health problem that reduces medical treatment options and increases mortality. The molecular profiles of virulence and multidrug resistance of P. aeruginosa-associated hospital and community infections in Mexico have been poorly studied. In this study, we analyzed the different molecular profiles associated with the virulence genotypes related to multidrug resistance and the genotypes of multidrug efflux pumps (mex) in P. aeruginosa causing clinically critical infections isolated from Mexican patients with community- and hospital-acquired infections. Susceptibility to 12 antibiotics was determined using the Kirby-Bauer method. The identification of P. aeruginosa and the detection of virulence and efflux pump system genes were performed using conventional PCR. All strains isolated from patients with hospital-acquired (n = 67) and community-acquired infections (n = 57) were multidrug resistant, mainly to beta-lactams (ampicillin [96.7%], carbenicillin [98.3%], cefalotin [97.5%], and cefotaxime [87%]), quinolones (norfloxacin [78.2%]), phenicols (chloramphenicol [91.9%]), nitrofurans (nitrofurantoin [70.9%]), aminoglycosides (gentamicin [75%]), and sulfonamide/trimethoprim (96.7%). Most strains (95.5%) isolated from patients with hospital- and community-acquired infections carried the adhesion (pilA) and biofilm formation (ndvB) genes. Outer membrane proteins (oprI and oprL) were present in 100% of cases, elastases (lasA and lasB) in 100% and 98.3%, respectively, alkaline protease (apr) and alginate (algD) in 99.1% and 97.5%, respectively, and chaperone (groEL) and epoxide hydrolase (cif) in 100% and 97.5%, respectively. Overall, 99.1% of the strains isolated from patients with hospital- and community-acquired infections carried the efflux pump system genes mexB and mexY, while 98.3% of the strains carried mexF and mexZ. These findings show a wide distribution of the virulome related to the genotypic and phenotypic profiles of antibiotic resistance and the origin of the strains isolated from patients with hospital- and community-acquired infections, demonstrating that these molecular mechanisms may play an important role in high-pathogenicity infections caused by P. aeruginosa.

B-222 Receptor-donor CYP3A5 and CYP3A4 genotype testing in liver transplant patients and its influence in tacrolimus blood levels: a retrospective study

Abstract Background Optimal immunosupression is crucial for transplant success. In orthohepatic transplants, blood target levels of tacrolimus, when coadministred with corticoids and mycophenolic acid, are between 6 and 10 ng/mL during the first three months post-transplant. Notwithstanding, achieving tacrolimus concentrations into this range may be tough because of factors such as liver function status, age, sex, drug-drug interactions, etc. In this way, pharmacogenetic testing of CYP3A5 and CYP3A4 genes have demonstrated to be useful in tacrolimus dosing optimization. Nonetheless, there is no evidence enough for pharmacogenetic based adjusting in liver transplant, specially if receptor and graft’s genotypes differ in these loci. The aim of the present study is to find out how the receptor and donor genotypes in CYP3A5 and CYP3A4 genes affect tacrolimus pharmacokinetics. Methods Genotypic profiling of 108 receptor-donor's pairs biopsies gathered from patients who were underwent hepatic transplant from 2012 to 2019 were carried out using Taqman® OpenArray™ PGx Express 120 panel (ThermoFisher™). We focused on CYP3A5*3, *6 and *7; and CYP3A4*1B, *3 and *22 alleles. Next to pharmacogenetic testing, each patient was classified as very poor, poor, intermediate, rapid or ultrarapid metabolizer according to their own genotype, graft’s genotype or both of them. Patient’s initial dose, at seven days after treatment start and after discharge of tacrolimus and their trough concentrations (C0) were collected from their electronic health records. Tacrolimus levels were measured by affinity chrome-mediated immunoassay. C0 was normalized by weight-adjusted dosage (C/D ratio); then, median C/D ratios between different metabolic profiles were compared through Kruskal-Wallis test. Results When patients were classified based on donor’s genotype isolated or combined with receptor’s genotype, lower C/D ratios were found as metabolizer ability increases (p=0.045 for donors and p=0.027 for combined genotypes, respectively). No statistically differences were found for C/D ratios at seven days and discharge, though that differences were almost significant for donor’s genotypes (p=0.06 in both cases). Conclusions These results show that previous information about both patient’s and specially donor’s CYP genes genotype may improve initial immunosupression and avoid tacrolimus induced toxicity. Pharmacogenetics has been currently proposed as a guide for tacrolimus treatment of some solid organ transplants as kidney transplanted patients. Better understanding of how receptor and donor’s CYP genotype affects its pharmacokinetics, along with liver’s damage markers and other genetic polymorphisms will allow clinicians, in the era of personalized medicine, to improve immunosupressive management.

Susceptibility to lenacapavir, fostemsavir and broadly neutralizing antibodies in French primary HIV-1 infected patients in 2020-2023.

Surveillance studies of Transmitted Drug Resistance (TDR) are crucial in tracking the evolution of HIV epidemiology. Our aim was to investigate TDR to nucleoside reverse transcriptase inhibitors (NRTIs), non-nucleoside reverse transcriptase inhibitors (NNRTIs), protease inhibitors (PIs), integrase inhibitors (INIs), as well as to new drugs: lenacapavir, fostemsavir. Predictive sensitivity was evaluated for maraviroc and broadly neutralizing antibodies (bNAbs) (zinlirvimab and teropavimab). Between 2020 and 2023, 85 people with HIV (PWH) were diagnosed with primary HIV-1 infection (PHI). Pol and env sequences were analyzed and TDR was characterized according to the French ANRS algorithm. The genotypic-based prediction of bNAbs sensitivity was based on HIV env amino acid signatures I108, I201, F353 for teropavimab and N325, N332, H330 for zinlirvimab. TDR to NRTIs, NNRTIs, PIs and INIs was evidenced in 8.2%, 12.9%, 4.7%, and 5.9% strains, respectively. Ten viruses were CXCR4/dual mix. All viruses were susceptible to lenacapavir (100%) and 52% harbored resistance to fostemsavir. The genotypic profile was associated with a predictive positive value (PPV) > 83% of susceptibility to both teropavimab and zinlirvimab for 23 viruses (31%), while 22 (29%) had a PPV between 62% and 75%, suggesting reduced susceptibility to both bNAbs as soon as primary infection. The surveillance of TDR evidenced at the time of PHI is important with regard to new strategies for HIV patients with virological failure and global implementation of PrEP using NRTI, INI such as recently approved injectable cabotegravir, and future long-acting drugs such as lenacapavir and bNAbs.

Molecular Detection and Phylogenetic Tree of Rotavirus from Human and Sheep, Iraq

Group A rotaviruses (RVA) have been linked to acute gastroenteritis in children, as well as young domestic and wild animals. In Iraq few molecular studies involved the genotype profile of rota virus and this is the first study target VP1 gene. Data were collected from January to February 2018 and subsequently examined utilizing a PCR and because of low viral concentration we utilized Nested PCR. Sequenced PCR result at 327 bp fragment in 4 A rota virus-positive samples deposited in GenBank under accession number (MH11809.1, MH118097.1) for human and (MH118095.1, MH118094.1) to sheep. Children samples were identical to the other human A rota virus at (99-100%), with Japan feline-like human G6P and G6P[14] isolated from cattle as well as, animal rota virus (99-100%) similarity with cross relation with human Wa-Like and porcine, moreover Morocco characterized caprine, bovine rotavirus and Slovenian Roe deer ARV.

Beneficial or detrimental? How nickel application alters the ionome of soybean plants

The use of nickel (Ni) in agriculture may represent one of the most significant cases of plant hormesis ever reported, as plants exhibit both positive and negative responses depending on the level of exposure to this element. For a more comprehensive understanding of this effect, the next step is to conduct studies on the dynamics of pre-existing chemical elements in the system (ionomic profile), especially when introducing Ni as a novel nutrient for the plants. This micronutrient is of particular interest to the fertilization of leguminous plants, such as the soybean, due to its additional effects on the biological nitrogen fixation process. This study thus evaluated the influence of five doses of Ni (0.0, 0.5, 1.0, 3.0, and 9.0 mg of Ni kg−1) on the ionomic profile of soybean genotypes using modern quantification techniques. The results revealed that the addition of Ni reduced the concentration of cationic micronutrients manganese (Mn), iron (Fe), zinc (Zn), and copper (Cu), while it increased the concentration of macronutrients nitrogen (N) and magnesium (Mg). The application of Ni also resulted in a reduction of the potentially toxic element aluminum (Al). Correlations were also observed for these elements, indicating that Ni could be a controlling agent in elemental absorption and translocation. The ionome of the leaf tissues exhibited the most significant alterations, followed by the grains, nodules, and roots. Exogenous agronomic doses of Ni proved beneficial for the growth and production of soybean plants, although a genotypic effect was observed. The treatment with 9.0 mg of Ni kg−1, resulted in a new ionomic profile related to toxicity, demonstrating suboptimal plant development. Thus, the application of Ni in appropriate doses had a significant impact on the ionomic profile of soybeans, improving plant development and implying resistance to potentially toxic elements such as Al.

Antimicrobial resistance profiling of bacteria isolated from wastewater and samples of pharmaceutical industries in South India

The study was aimed to determine the phenotypic and genotypic antimicrobial resistance in the isolated bacteria from the influent (25), effluent (15), surface and ground water samples (15) surrounding the pharmaceutical industries located in south India. From 55 samples, 48 isolates of 10 different bacteria were obtained. The identified bacterial isolates were viz. Klebsiella pneumoniae, Pseudomonas aeruginosa, Enterobacter aerogenes, Corynebacterium sp., Acinetobacter sp., Aeromonas punctata, Ralstonia picketti, Staphylococcus aureus, Stenotrophomonas maltophillia, and Citrobacter freundii. The phenotypic profile of resistance through antibiotic susceptibility test was carried out against sixteen different antibiotics. Standard PCR technique was used for the detection of 12 resistance genes encoding carbapenems, quinoline, aminoglycoside, β-lactam belonging blaOXA-58,blaOXA-22,qnrA, qnrB, aac(6)-Ib-cr, aac (3)-XI, mec A, qepA, aadB, blaVIM, blaOXA-48 and blaNDM. Pseudomonas aeruginosa (1: TN/I/2020) showed presence of 3 resistance genes. qnrB (489 bp) gene was present in maximum of 7 isolates while blaVIM (196 bp) gene was present in 6 isolates. The resistance genes blaNDM (621 bp) was present in three different isolates; aac (X):6)-lb-cr (482 bp), qepA (495 bp), aadB (500 bp), blaOXA-58 (843 bp) resistant genes were present in two different isolates each among the bacterial isolates obtained in this study. In phenotypic resistance profiling by AST method, out of 16 antibiotics tested, 14 showed resistance. Similarly, in genotypic resistance profiling, among 12 resistance genes tested, a maximum of three resistance genes were noticed in Pseudomonas aeruginosa. There were positive and negative correlations observed between phenotypic and genotypic resistance among different antibiotics and their resistance genes indicating the variations in the resistance gene expression.

Regional and temporal genotype profiling of Clostridioides difficile in a multi-institutional study in Japan

Clostridioides difficile, a cause of healthcare-associated infections, poses a significant global health threat. This multi-institutional retrospective study focuses on epidemic dynamics, emphasizing minor and toxin-negative clinical isolates through high-resolution genotyping. The genotype of the C. difficile clinical isolates during 2005 to 2022 was gathered from 14 hospitals across Japan (N = 982). The total number of unique genotypes was 294. Some genotypes were identified in every hospital (cross-regional genotypes), while others were unique to a specific hospital or those in close geographic proximity (region-specific genotypes). Notably, a hospital located in a sparsely populated prefecture exhibited the highest prevalence of region-specific genotypes. The isolation rate of cross-regional genotypes positively correlated with the human mobility flow. A 6-month interval analysis at a university hospital from 2019 to 2021 revealed a temporal transition of the genotype dominance. The frequent isolation of identical genotypes over a brief timeframe did not always align with the current criteria for defining nosocomial outbreaks. This study highlights the presence of diverse indigenous C. difficile strains in regional environments. The cross-regional strains may have a higher competency to spread in the human community. The longitudinal analysis underscores the need for further investigation into potential nosocomial spread.

Evaluation of anchote (Coccinia abyssinica) genotypes and processing methods for mineral and phytochemical composition

Anchote, a vital crop in Ethiopia, is valued for its food, medicinal, social, and economic benefits. Despite it outperforms other root vegetables in yield and nutritional content, its cultivation remains restricted to specific locales, prompting on-farm studies to assess mineral and phytochemical profiles of various anchote genotypes. This research aimed to identify better cooking methods for preserving these essential components. Three genotypes were tested in the on-farm trials across four fields: two local landraces (LV1, LV2) and the Improved Variety Desta 01. A factorial experiment combining three genotypes with two cooking approaches (peeled and unpeeled) was executed to evaluate mineral content (Ca, K, Mg, Na, P, Cu, Mn, Fe, Zn). Results showed significant impacts of cooking methods on potassium (K) and magnesium (Mg) levels (P = 0.01, P = 0.006) and on phenolics and ascorbate content (P = 0.026, P = 0.004). While genotypes did not show significant difference in phytochemical composition, boiling the roots unpeeled proved to be the most effective method for conserving mineral and phytochemical profiles. The study underscores the potential of anchote genotypes as nutrient-rich crops, advocating for their widespread adoption for nutritional and pharmaceutical purposes. Future research avenues should explore anchote's broader biochemical potential for food formulation, processing, and pharmaceutical applications.

Microbiological Quality of Coconut Water Sold in the Grande Vitória Region, Brazil, and Phenogenotypic Antimicrobial Resistance of Associated Enterobacteria.

This study aimed to evaluate the microbiological quality of coconut water sold from street carts equipped with cooling coils or refrigerated at bakeries in the Grande Vitória Region, Brazil. Additionally, it assessed the phenotypic and genotypic antimicrobial resistance profiles of isolated enterobacteria. The results indicated that coconut water sold at street carts had lower microbiological quality compared to refrigerated samples, as evidenced by significantly higher counts of mesophilic microorganisms. Using MALDI-TOF, the following opportunistic pathogens were identified: Citrobacter freundii, Enterobacter bugandensis, E. kobei, E. roggenkampii, Klebsiella pneumoniae, and Kluyvera ascorbata. Three isolates-E. bugandensis, K. pneumoniae, and K. ascorbata-were classified as multidrug-resistant (MDR). Widespread resistance to β-lactams and cephalosporins was detected, and some isolates were resistant to quinolones, nitrofurans, and phosphonic acids. The gene blaCTX-M-2 was detected in C. freundii, E. bugandensis, E. kobei, and K. ascorbata. However, genes blaNDM, blaKPC, blaCMY-1, and blaCMY-2 were not detected in any isolate. The findings underscore the need to enhance good manufacturing practices in this sector to control the spread of antimicrobial resistance (AMR). To our knowledge, this is the first study documenting the presence of potentially pathogenic enterobacteria in coconut water samples and their associated phenotypic and genotypic AMR profiles.

Genotypic and phenotypic characterisation of asymptomatic bacteriuria (ABU) isolates displaying bacterial interference against multi-drug resistant uropathogenic E. Coli

Escherichia coli can colonise the urogenital tract of individuals without causing symptoms of infection, in a condition referred to as asymptomatic bacteriuria (ABU). ABU isolates can protect the host against symptomatic urinary tract infections (UTIs) by bacterial interference against uropathogenic E. coli (UPEC). The aim of this study was to investigate the genotypic and phenotypic characteristics of five ABU isolates from midstream urine samples of adults. Comparative genomic and phenotypic analysis was conducted including an antibiotic resistance profile, pangenome analysis, and a putative virulence profile. Based on the genome analysis, the isolates consisted of one from phylogroup A, three from phylogroup B2, and one from phylogroup D. Two of the isolates, PUTS 58 and SK-106-1, were noted for their lack of antibiotic resistance and virulence genes compared to the prototypic ABU strain E. coli 83,972. This study provides insights into the genotypic and phenotypic profiles of uncharacterised ABU isolates, and how relevant fitness and virulence traits can impact their potential suitability for therapeutic bacterial interference.

Pediatric Angiosarcoma with Novel Phenotypic and Genotypic Profile in Chinese Children

Introduction: Angiosarcoma is an exceedingly rare entity in pediatric population. Herein, we report two pediatric angiosarcoma with novel phenotypic and genotypic profile. Methods: The two patients’ information was summarized by clinical data, histopathology, immunohistochemistry, genetic, treatment, and prognosis. Results: Two Chinese children presented with abdominal mass or consumptive hypothyroidism at 2 and 6 years. A patient presented with a unique histopathology of epithelioid AS with smooth muscle hyperplasia, and carried a novel somatic mutation in FAT1 (c.3929C > T/p. Ser1310Leu) along with germ-line variants in CDK8 (c.895A > C/p. Lys299Gln), FANCI (c.3906-07inv/p. Glu1303Lys), and MST1R (c.3581-83delinsACG/p. Arg1194-Ser1195delinsHisGly). The other patient presented with a novel ­clinical phenotype of consumptive hypothyroidism. They received postoperative treatment and were monitored for 20 and 26 months, showing good recovery. Conclusion: The phenotypic and genotypic spectrum of AS in pediatric population was expanded by these two patients, which requires the accumulating more cases to gain a deeper understanding.

Expanding clinical characteristics and genotypic profiling of Yao syndrome in Chinese patients.

Yao syndrome (YAOS, OMIM# 617321) is a kind of systemic autoinflammatory diseases (SAIDs) linked to the nucleotide-binding oligomerization domain containing 2 (NOD2). Clinical reports of YAOS in China are sparse. Herein, we reported the largest YAOS cohort of Chinese patients to expand the understanding of its phenotype, genotype, and therapeutic responses. This study enrolled 15 adult patients diagnosed with YAOS at Peking Union Medical College Hospital from April 2015 to May 2024. Whole-exome sequencing was performed on all patients. Clinical data, genetic variations, and treatment responses were documented and compared with a Caucasian cohort. The mean age of disease onset was 35 ± 17 years old. The most common clinical manifestations included recurrent high-grade fever (100%), gastrointestinal symptoms (73.3%), arthralgia/arthritis, fatigue, myalgia, and lower extremity swelling (46.7%). All patients exhibited elevated acute-phase reactants during episodes. 12 heterozygous NOD2 variants were identified, with Q902K in 4 patients, R471C in 3, and variants c.-14C>T, A110T, S127L, R311W, A432V, Y514H, R541P, A661P, K818Q, A886V each found in individual patients. 90% of the patients responded well to glucocorticoids, and 55.6% to sulfasalazine. 66.7% of patients who received TNF inhibitors achieved complete resolution of symptoms. Additionally, one patient each responded favorably to canakinumab and tocilizumab. Compared to the Caucasian cohort, our cohort exhibited a more balanced gender ratio and a higher proportion of recurrent fever, proteinuria/hematuria as well as more frequent leukocytosis, elevated acute phase reactants, and anemia. Lower proportions of arthralgia/arthritis, skin rashes, headaches, and sicca-like symptoms were noted in our cohort. Moreover, a higher proportion of patients in our cohort showed a good response to TNF inhibitors. Chinese patients with YAOS had more pronounced inflammatory manifestations compared to the Caucasian cohort. Variants c.-14C>T, A110T, S127L, A661P, K818Q, A886V, R471C, and A432V were identified as novel NOD2 variants in YAOS. TNF, IL-6, and IL-1 inhibitors are the promising treatment options. These findings expand the clinical spectrum, genetic profile, and treatment efficacy of YAOS, underscoring the need for heightened awareness of this disease in diverse populations.

The Genotypic Profile of Milk Proteins in Cattle Populations Createdon the Mother Base of the Lebedinian Breed

The Genotypic Profile of Milk Proteins in Cattle Populations Createdon the Mother Base of the Lebedinian Breed

Green synthesized silver nanoparticles from Ocimum sanctum: A potent inhibitor of biofilm forming ability and efflux pumps in bacteria causing bovine mastitis

Therapeutic management of mastitis faces significant challenges due to multidrug resistance. In the present study, multi-drug-resistant (MDR) Staphylococcus spp, Klebsiella pneumoniae, and Escherichia coli were isolated from bovine clinical mastitis cases and the phenotypic and genotypic multidrug resistance profiling was carried out. Silver nanoparticles (AgNPs) were biosynthesized using Ocimum sanctum leaf extracts and characterized via UV Vis absorption, Fourier Transform Infrared Spectroscopy, X-ray diffraction studies, Energy dispersive spectroscopy and Electron Microscopy. The determined minimum inhibitory concentration and minimum bactericidal concentration of the AgNPs against the recovered MDR isolates were 62.5 μg/ml and 125 μg/ml respectively. At a concentration of 50 μg/ml, the AgNPs demonstrated biofilm inhibitory activities of 80.35 % for MDR E. coli, 71.29 % for S. aureus and 60.18 % for MDR K. pneumoniae. Post-treatment observations revealed notable differences in biofilm formation across bacterial isolates. Furthermore, AgNP treatment led to significant downregulation of expression of the efflux pump genes acrB, acrE, acrF, and emrB in Gram-negative isolates and norB in Staphylococci isolates. This research underscores the potential for the development of an eco-friendly antimicrobial alternative in the form of green synthesized silver nanoparticles to combat drug resistance offering potential antibiofilm and efflux pump inhibitory activities.