Genotypic Characteristics Research Articles

Genetic Diversity of Cowpea: Implications for Crop Improvement and Food Security: A Review

Cowpea is a major legume crop native to Africa and it provides food for man as well as livestock. Even though it is widely cultivated in Africa, a second domestication was probably occurred in Asia. Cowpea can thrive in a range of soil types, pH and temperatures. Besides, changing lifestyle and climate variability have brought in enough scope for its cultivation. Variability studies in cowpea are highly significant in order to identify superior genotypes for the further improvement of the crop. The genetic diversity analysis will help in the identification of potentially distinct genotypes with contrasting traits which can be used to operate effective selection of genetically diverse genotypes for yield improvement as well as nutritional enrichment and climate resilience. Hence, the present review is focused on the studies carried out in different parts of the world to characterize the genetic diversity in cowpea germplasm. This work was done at the Department of Botany, University of Calicut, Kerala. The study reviewed and systematically evaluated the various practices implied to assess the genetic diversity in cowpea. Literature search was done during March, 2023- July, 2024. About 150 Research papers were screened from various data bases like Google scholar, ResearchGate and a total of 79 research papers were used to write this review article. Present review article reveals the significance of cowpea as a food and fodder crop and the characterization of cowpea genotypes as an important genetic resource for developing climate resilient crops. The review also shed light on origin and distribution of cowpea, cowpea breeding, tools for genetic variability assessment among cowpea genotypes, new and improved molecular markers that are utilized in research and future aspects of cowpea improvement for maintaining sustainable nutrition to society.

Intercropping with dwarf coconut: vegetative, reproductive and nutritional traits of Coffea canephora genotypes recommended to monoculture

The aim of this study was to quantify vegetative, reproductive and nutritional characteristics of conilon coffee genotypes intercropped with dwarf coconut, in order to verify the possibility of identifying genotypes with promising performance for consortium systems between genotypes recommended for monoculture. The experiment was developed in a consortium system, following a completely randomized design, testing eight genotypes of C. canephora randomly distributed along the lines of consortium with dwarf coconut trees, using six replications. Twelve characters were evaluated to describe vegetative, reproductive and nutritional aspects of plants. It was possible to identify differences in vegetative, reproductive and nutritional characteristics between genotypes of C. canephora in consortium with dwarf coconut. The phenotypic and genetic variability expressed, even in a limited group of eight genotypes improved and adapted for monoculture, seems to be sufficient to allow a selection of genotypes more suitable for the consortium. Considering the conditions evaluated, genotypes 83, 48, 02 and 153 stand out for this consortium, because their selection could promote gains in several of the characteristics used in this research.

Generalizable Metamaterials Design Techniques Inspire Efficient Mycelial Materials Inverse Design.

Fungal mycelial materials can mimic numerous nonrenewable materials; they are even capable of outperforming certain materials at their own applications. Fungi's versatility makes mock leather, bricks, wood, foam, meats, and many other products possible. That said, there is currently a critical need to develop efficient mycelial materials design techniques. In mycelial materials, and the wider field of biomaterials, design is primarily limited to costly forward techniques. New mycelial materials could be developed faster and cheaper with robust inverse design techniques, which are not currently used within the field. However, computational inverse design techniques will not be tractable unless clear and concrete design parameters are defined for fungi, derived from genotype and bulk phenotype characteristics. Through mycelial materials case studies and a comprehensive review of metamaterials design techniques, we identify three critical needs that must be addressed to implement computational inverse design in mycelial materials. These critical needs are the following: 1) heuristic search/optimization algorithms, 2) efficient mathematical modeling, and 3) dimensionality reduction techniques. Metamaterials researchers already use many of these computational techniques that can be adapted for mycelial materials inverse design. Then, we suggest mycelium-specific parameters as well as how to measure and use them. Ultimately, based on a review of metamaterials research and the current state of mycelial materials design, we synthesize a generalizable inverse design paradigm that can be applied to mycelial materials or related design fields.

Integrated characterization of Greek fennel genotypes through morpho‐agronomical characteristics, yield components and phytochemical compounds

AbstractBackgroundFennel (Foeniculum vulgare Mill.) is a widely cultivated vegetable and aromatic‐medicinal plant. In this research, field studies assessed 12 fennel genotypes of diverse origin, comprising 10 Greek accessions and two European commercial varieties, focusing on their morpho‐agronomical traits, phenolic compounds and antioxidant activity in the aboveground biomass. Emphasis gave on the post‐harvest determination of seed yield and essential oil's (EO's) profile for each genotype.ResultsMultivariate data analysis on both morpho‐agronomical descriptors and EO's components demonstrated clear distinction of Greek fennel accessions (groups I and III) from commercial varieties (group II). Accessions of groups I and III were ranked with intermediate values of height, foliage density, leaf length, green color intensity and primary canopy diameter. In addition, fennel accessions differentiated in their EO's yield (ranged from 2.2% to 7.8%), although they exhibited similar qualitative profile. The main EO's compound of group I was trans‐anethole, estragole and fenchone for group III, while commercial varieties characterized by high concentration in trans‐anethole and fenchone. Variations among genotypes were also demonstrated in the content of total phenolics (7.0–11.6 mg g−1 on dry weight basis, dw) and flavonoids (5.9–12.4 mg g−1 dw), while the antioxidant activity determined by ABTS test, varied from 9.0 to 16.2 mg Trolox equivalents g−1 dw.ConclusionThe observed variability in morpho‐agronomical descriptors and phytochemical profile among fennel genotypes recorded for the first time the potential of Greek native genetic material. The data of this research provides useful information for direct future uses in pharmaceutical industry and for applications in plant breeding programs, aiming to produce new type of fennel varieties.

Chronic wounds and adaptive Pseudomonas aeruginosa: A phenotypic and genotypic characterization

Chronic wounds and adaptive Pseudomonas aeruginosa: A phenotypic and genotypic characterization

Phenotypic and genotypic features of von Willebrand disease in Hong Kong

Phenotypic and genotypic features of von Willebrand disease in Hong Kong

315. Modeling Strain-Dependent Variability in Carbapenem-Resistant Klebsiella pneumoniae Colonization in the Malnourished Host

Abstract Background Particular strains of Carbapenem-resistant Klebsiella pneumoniae (CR-Kp) have achieved global dominance extending to developing countries where malnutrition is a potential risk factor for infection. Bacteria and host properties that determine colonization dynamics in this context are not understood. We hypothesized that strain variability in host cell adhesion and nutrient-utilization in vitro predicts in vivo intestinal colonization by CR-Kp in malnourished hosts.Figure 1:Strain-dependent cell adhesion by carbapenem-resistant Klebsiella pneumoniae(A) Adhesion to Colo-201 cells and/or (B) Caco-2 cells as percentage of bacteria recovered after co-culturing then washing off non-adherent cells. Bacterial quantification performed by culturing on MacConkey agar + Meropenem. Strains of interest indicated with arrows and colored-bars. All experiments showing results of 3 replicates. Methods Patient-derived isolates of CR-Kp were subject to in vitro assays testing adhesion to human colon cell lines. Select isolates were further tested for in vitro growth in minimal media with limiting protein availability. These isolates were additionally inoculated via orogastric lavage into C57BL/6 mice (n=6 per group) on a nutrient replete control diet (CD) or isocaloric protein-deficient diet (PD) and intestinal colonization was quantified with selective culture of feces and intestinal specimens on MacConkey agar containing meropenem.Figure 2:Nutrient limited growth of carbapenem-resistant Klebsiella pneumoniaeGrowth in vitro determined by serial absorption measurement of bacteria culture under different nutrient conditions. M9 minimal medium (M9mm; M9 solution +0.4% glucose) was used with or without casein peptone (0.16% or 0.016%) as a protein/amino acid source. Results Across >100 screened human isolates of CR-Kp, adhesion to human colon cell lines ranged from < 1% to 30% (Figure 1). Three high-adhesion isolates (Kp175, Kp4493 and Kp4605) and one low-adhesion isolate (Kp4404) were selected for further investigation (Table 1). All three high-adhesion isolates grew to varying degrees in protein-limited conditions, while Kp4404 required a protein source for growth (Figure 2). Mice inoculated with CR-Kp were stably colonized only if they were fed a PD rather than CD diet. Kp175 and Kp4605 demonstrated the highest fecal shedding and intestinal burden (102-104 CFU per mg), which was significantly greater on a PD versus CD diet (p< 0.05 by Mann-Whitney test). In contrast, Kp4493 and Kp4404 inconsistently colonized mice regardless of diet (Figure 3).Figure 3:Diet-dependent intestinal colonization by carbapenem-resistant Klebsiella pneumoniae(A) 3-4 wk old C57BL/6 male mice initiated on nutrient-replete control diet (CD) or isocaloric protein-deficient diet (PD) and inoculated via orogastric lavage with 10^6 CFU of carbapenem-resistant Klebsiella pneumoniae (CR-Kp). (B) Weight measured over time along with bacterial burden in (C) fecal pellets and (D) intestinal tissue by culturing on MacConkey agar + Meropenem. 6 animals used per condition. * = p<0.05 by Mann Whitney Test. Conclusion Our findings suggest a wide variability in intestinal cell adhesion and nutrient utilization by clinical isolates of CR-Kp. These in vitro properties incompletely predict in vivo colonization in a mouse model. Notably, host dietary deficiency promotes intestinal colonization by certain nutritionally resilient CR-Kp isolates, with potential implications for the global spread of high-risk strains in malnourished populations.Table 1:Genotypic, clinical and phenotypic characteristics of carbapenem-resistant Klebsiella pneumoniae Adhesion percentage express as mean (standard deviation). Disclosures David van Duin, MD, PhD, Merck: Advisor/Consultant|Merck: Grant/Research Support|Pfizer: Advisor/Consultant|Qpex: Advisor/Consultant|Roche: Advisor/Consultant|Shionogi: Advisor/Consultant|Shionogi: Grant/Research Support

P-283. Epidemiology, clinical, phenotypic, and genotypic characteristics of multidrug, extensive and pan-drug resistant Acinetobacter baumannii from Qatar

Abstract Background Multidrug-resistant Acinetobacter baumannii-calcoaceticus complex is associated with significant morbidity and mortality with limited treatment options. The outlined study aimed to evaluate the epidemiology , clinical , phenotypic and genotypic characteristics of multidrug resistant (MDR) Acinetobacter species from Qatar between 2017-2020 . Methods A prospective study was conducted between 2017-2020 for all clinical isolates of Acinetobacter species. Microbial identifications and antimicrobial susceptibility tests were performed using automated MALDI-TOF MS and BD PhoenixTM system according to the manufacturer’s recommendations while additional ASTs were performed with E test . Genomic tests were performed using whole genome sequence Results Out of 536 isolates, 62 (11.5%) resistant isolates were identified showing decremental trend over the study period with dominance of sequence types: ST2 (71 %), ST 25 % (8%) and ST 164 (8%). Main age of acquisition was 64 year (38-70). Isolate sites were urinary (42 %), respiratory (29%), bloodstream (16%), skin and soft tissues (13%) mainly acquired at hospitals (97 %). Existing multiple comorbidities and previous antimicrobial exposure were present in most cases. Multiple antimicrobial regimes for management were dominated by colistin, meropenem, amikacin, cotrimoxazole and tigecycline with 30-day mortality of 16 %. Microbiological evaluation demonstrated extensive resistance ranging between 85-100 % for active agents including meropenem and ampicillin-sulbactam at 97.4 % as well as for novel agents: ceftazidime-avibactam (100%), ceftolozane-tazobactam, meropenem-vaborbactam and imipenem- relebactam at 97.4 %. All ST2 isolates carried class D blaOXA-23 and blaOXA-51 family, that confer resistance to carbapenems, as well 7 isolates carried class B MBL blaNDM-1. Conclusion Acquisition of resistant Acinetobacter baumannii is infrequent with decremental trend dominated by ST 2, mainly isolated from the elderly with multiple comorbidities and risk factors. Predominant isolation sites are urinary, respiratory, bloodstream, skin and soft tissues. Extensive resistance profiles limit treatment options for conventional and novel agents pointing towards urgent needs for alternative therapy. Disclosures All Authors: No reported disclosures

АНАЛИЗ УРОЖАЙНОСТИ И КАЧЕСТВА ЗЕРНА ОТЕЧЕСТВЕННЫХ И ЗАРУБЕЖНЫХ СОРТОВ ЯРОВОЙ МЯГКОЙ ПШЕНИЦЫ В УСЛОВИЯХ ЗАПАДНОЙ СИБИРИ

The aim of the study is to evaluate the yield, technological quality characteristics and rheological properties of the dough of spring soft wheat accessions, to identify the best varieties as sources of these characteristics for breeding. In 2021–2023, 20 accessions of spring soft wheat of domestic and foreign selection were studied on the territory of the educational and experimental farm of Omsk State Agrarian University in the southern forest-steppe of Western Siberia. The genotypic features of foreign and registered wheat varieties were compared. Foreign varieties, on average, were characterized by a higher protein content (15.1 %) and gluten (38.8 %), as well as an increased hardness index (157.7 units) and flour particle size (24.5 μm). This is due to the allelic variants of the Pina and Pinb genes, which control grain hardness. Grain hardness improves the quality of baking, but leads to a decrease in flour yield. Domestic varieties had a lower hardness index (126.6 units) and a higher flour yield (68.4 %). Among the registered varieties, Novosibirskaya 31 and Element 22 stood out, and among the foreign varieties, Rollag, Kinley, Linkert and Sabin stood out with a high content of protein, gluten and flour yield. Foreign varieties demonstrated higher water absorption (62.7 %) and dough formation time (5.9 min). Domestic varieties had higher dough stability (6.0 min) and a lower degree of its liquefaction (48 EF), which indicates their suitability for the production of high-quality bread. The yield varied depending on the year and genotype, but local varieties showed a higher yield potential (373.1 g/m2). The selected domestic wheat varieties (Novosibirskaya 31, OmskGAU 100, Erythrospermum 59, Silach) have the technological and baking quality necessary for the production of high-quality flour and bread.

Genotypic Characterization of Human Parvovirus B19 Circulating in the 2024 Outbreak in Tuscany, Italy

Human Parvovirus B19 (hB19V) is a widespread virus, causing erythema infectiosum in children and several clinical manifestations from acute to persistent infections in adults. In early 2024, ECDC reported an increased human Parvovirus B19 circulation in 14 European countries. A hB19V outbreak was also reported in Tuscany, Italy, prompting a detailed investigation of its genetic characteristics. In this context, through strict monitoring of circulating strains via next-generation sequencing (NGS), we carried out a phylogenetic analysis based on the whole of hB19V genomes. Phylogenetic clustering assigned all isolates to the G1a genotype, although with some mutations in NS1, VP1, and VP2, compared to the reference strains. Further characterization of these variants is necessary to fully assess their potential implications for public health. This study provides valuable insights into the spread of Parvovirus B19 and underlines the importance of continuous genomic surveillance to monitor and respond to possible hB19V epidemics that could impact public health.

Genotypic features of the relationship between the components of the antioxidant complex of high blueberry fruits and the content of organic compounds during introduction in Belarus

The article presents the results of a comparative study in the southern agroclimatic zone of Belarus in the taxonomic series of 6 new introduced varieties of highbush blueberry: early ripening – Chanticleer, Hannah’s Choice, midseason – Bluegold, Harrison, and late ripening – Aurora, Rubel, as well as the corresponding to these maturity groups zoned varieties Weymouth, Bluecrop and Elliott structures of correlation links between the levels of antioxidant and enzymatic activity, on the one hand, and 12 indicators of biochemical composition, on the other.Significant genotypic differences in the orientation and strength of these links were revealed due to the individual characteristics of the biochemical composition of the tested objects, indicating a pronounced variety specificity of the analyzed traits.A noticeable similarity was revealed in the representatives of different varietal groups in the spectra of organic compounds most significant for formation of the antioxidant complex of fruits, which was most clearly manifested in early and late ripening varieties and consisted of the dominant role of catechins, tannins, leucoanthocyanins and flavonols, and in midripening varieties – along with tannins and leucoanthocyanins, also free organic and hydroxycinnamic acids.At the same time, soluble sugars and ascorbic acid had the least effect on the antiradical properties of blueberry fruits. A uniform sequence of blueberry taxa was established in the order of decreasing the interaction level of individual components of the antioxidant complex of fruits with the content of organic compounds of different chemical nature with the greatest manifestation of the strongest direct correlation links with sources of antioxidant, peroxidase and polyphenoloxidase activity in the Hannah’s Choice variety, and in the Aurora variety – with sources of catalase and, to a lesser extent, the peroxidase activity against the background of a minimum number of such interactions in the Harrison variety, which was 1.6–2.1 times inferior in this feature to the leading blueberry taxa.

КОМБИНАЦИОННАЯ СПОСОБНОСТЬ МЯГКОЙ ЯРОВОЙ ПШЕНИЦЫ ПО МАССЕ ЗЕРНА КОЛОСА В ТОПКРОССНЫХ СКРЕЩИВАНИЯХ

The purpose of research is to analyze the general and specific combining ability of soft spring wheat based on the trait “grain weight per spike” in the conditions of the Priob forest-steppe of the Altai Region. The experiment was conducted in 2020–2021 using pure fallow on the experimental field of the Federal Altai Scientific Center for Agrobiotechnology, located in the Priob forest-steppe of the Altai Region. The work studied the combinative ability of varieties and lines of soft spring wheat for the trait “grain weight per main spike” according to a topcrossing scheme consisting of 13 maternal and 3 paternal forms. The weather conditions during the years of the experiment are characterized. It has been established that the level of manifestation and the nature of inheritance of the trait under consideration, as well as the effects of general (GCA) and specific (SCA) combinative ability, largely depend on environmental conditions and the analyzed generation of hybrids (F1 and F2). The dominant contribution to the total dispersion of spike grain weight is made by year conditions (97.8 %), followed by genotypic characteristics (2.1 %) and their general interaction (0.1 %). The leading role in the system of genetic control of a trait belongs to genes with an additive type of action, with a small contribution from non-additive gene effects. The varieties and lines of test crosses differed significantly in the analyzed trait. On average, over 2 years of research, the following varieties differed in higher spike grain weight among maternal forms: Omskaya 42, Lutescens 186/04-6 and Lutescens 6/04-4 (with values from 1.45 to 1.95 g), and among paternal forms – Lider 80 (with values from 1.31 to 2.03 g). Valuable combinations of crosses with high expression of the studied trait have been selected, which are promising both in terms of selection of the desired genotypes in early generations of hybrids, and in terms of direct use in recurrent selection when creating new commercial varieties.

Detection of human noroviruses in sewage by next generation sequencing in Shandong Province, 2019–2021

BackgroundHuman noroviruses are the major cause of acute gastroenteritis and exhibit considerable genetic diversity. Next generation sequencing (NGS) analysis based on environmental surveillance has been proved to be an effective method in norovirus surveillance.MethodsBetween January 2019 and December 2021, 36 sewage samples were collected and analyzed using real-time quantitative PCR to detect noroviruses. Partial VP1 region was amplified and subjected to NGS analysis to assess the abundance and genetic characterization of various norovirus genotypes across different samples.ResultsA total of 23 norovirus genotypes were identified, including 9 genotypes of GI, 13 genotypes of GII and 1 genotype of GIX. The most frequently detected genotypes were GI.5 (86.11%), GII.2 (86.11%), GII.4 (63.89%), GII.17 (58.33%), and GII.13 (55.56%). Additionally, some rare genotypes, such as GI.7, GII.5, GII.9, and GII.16, which had not been previously reported in Shandong, were identified. No significant differences were observed in genotypic diversity or viral copy numbers in sewage samples when comparing pre- and post-COVID-19 periods. A total of 379 partial VP1 sequences were obtained, with the means sequence identity within a genotype of Shandong sequences ranging from 92.69 to 98.37% and a coefficient of variation ranging from 1.46 to 6.73%. Phylogenetic analysis indicated that local noroviruses within each genotype comprised multiple co-circulating lineages.ConclusionsOur data demonstrate that sewage contains noroviruses with considerable high diversities. NGS based environmental surveillance greatly improves the understanding of norovirus circulation and should be encouraged.

Phenotypic and genotypic characterization of antimicrobial resistance and virulence profiles of Salmonella enterica serotypes isolated from necropsied horses in Kentucky.

This study focuses on understanding how Salmonella, specifically isolated from horses, can resist antibiotics and cause disease. Salmonella is a well-known foodborne pathogen that can pose risks not only to animals but also to humans. By studying the bacteria from necropsied horses, the research aims to uncover how certain Salmonella strains develop resistance to antibiotics and which genetic factors make them more dangerous. In addition to antibiotic resistance, the research explores the biofilm-forming ability of these strains, which enhances their survival in harsh environments. The study also investigates their motility, a factor that contributes to the spread of infection. The findings can improve treatment strategies for horses and help prevent the transmission of resistant bacteria to other animals as well as humans. Ultimately, the research could contribute to better management of antibiotic resistance in both veterinary and public health contexts, helping to safeguard animal welfare and public health.

ЭКСТЕРЬЕРНО-КОНСТИТУЦИОНАЛЬНЫЕ ОСОБЕННОСТИ КОРОВ В ЗАВИСИМОСТИ ОТ ВОЗРАСТА И ГЕНОТИПОВ

The purpose of the study is to identify the influence of Holstein breeders on the exterior features of improved red steppe cattle. To study the exterior features of cows, three groups of cows were formed, from which the main body measurements were taken at 2–3 months of the first, second and third lactations, body indexes were calculated according to generally accepted methods. Groups of experimental animals were characterized by different indicators of body measurements, which is due to the genotype and age characteristics. Holsteinized first-calf heifers were distinguished by higher values of height at the withers, which exceeded the cows of the control group by 1.7–3.8 %. Primary heifers of the control group and three-breed crossbreds of the first generation were characterized by similar chest depth values (P < 0.95) and were inferior to three-breed crossbreds of the second generation by 4.1 and 4.6 % (P < 0.95 and P > 0.95), respectively . An analysis of chest width showed that the use of Holstein sires on an array of red steppe cattle had an impact on the development of chest width. With age, there is some change in the proportions of the body of the experimental groups of cows. Compared with the first lactation, the indexes of stretchiness, massiveness, chest, boneiness and broad chest increased in the anglerized cows of the second lactation. During the specified period, the indexes of overgrowth, stretching, massiveness, chest and broad chest increased in Holsteinized cows of the first generation, while in animals of the second generation there was an increase in the indices of stretch, massiveness, chest and broad chest. Anglerized and Holsteinized crossbred animals are generally characterized by a pronounced type of dairy cattle. An assessment of the improved herds of red steppe cattle was carried out according to the conformation and constitutional features, differences were revealed in the exterior of crossbred cows, depending on the proportion of Holstein bloodlines.

Kineococcus halophytocola sp. nov., Isolated from Leaves of Halophyte Sesuvium portulacastrum L.

An aerobic, Gram-stain-positive, motile, coccus-shaped actinomycete, designated strain LSe6-4T, was isolated from leaves of sea purslane (Sesuvium portulacastrum L.) in Thailand and subjected to a polyphasic taxonomic studies. Growth of the strain occurred at temperatures between 15 and 38°C, and with NaCl concentrations 0-13%. The 16S rRNA gene sequences analysis indicated that the strain was most closely related to Kineococcus endophyticus KLBMP 1274T (99.2%), and Kineococcus mangrovi L2-1-L1T (99.0%). The genome of strain LSe6-4T was estimated to be 4.22 Mbp in size, with DNA G+C content of 74.57%. The average nucleotide identity (ANI) and digital DNA-DNA hybridization (dDDH) relatedness values between strain LSe6-4T and the closely related species were less than the threshold values for identifying a novel species. Strain LSe6-4T showed morphological and chemotaxonomic characteristics of the genus Kineocoocus. The whole-cell hydrolysates contained meso-diaminopimelic acid as the diagnostic diamino acid, with arabinose, galactose, and ribose as whole-cell sugars. The predominant menaquinone was MK-9(H2). The polar lipid profile composed of phosphatidylglycerol, diphosphatidylglycerol, an unidentified phospholipid, three unidentified aminophospholipids, and an unidentified aminolipid. Major cellular fatty acids (> 10% of total fatty acids) were anteiso-C15:0 and iso-C14:0. It is evident from the combination of genotypic and phenotypic characteristics that strain LSe6-4T represents a novel species of the genus Kineococcus, for which the name Kineococcus halophytocola sp. nov. is proposed. The type strain is strain LSe6-4T (= TBRC 17798T = NBRC 116401T).

Genotypic and phenotypic characteristics of ADGRV1 mutations in four children and functional validation in a zebrafish model.

Mutations in ADGRV1 can cause seizures, but the mechanism remains unclear. The zebrafish model can be used to assess the functions of human ADGRV1 and its variant alleles during embryonic development. In this study, we summarized the phenotypic and genotypic characteristics of four children with ADGRV1 variation and based on this, we validated the ADGRV1 loss phenotype in an adgrv1-knockout zebrafish model. We retrospectively analyzed the clinical and genotypic characteristics of four pediatric patients diagnosed as having ADGRV1 mutations at Children's Hospital Affiliated to Chongqing Medical University from April 2019 to February 2022. Moreover, we used the adgrv1-knockout zebrafish larvae model and performed morphological, behavioral, and neuroelectrophysiological testing. We found that of the four included children, two had epilepsy, one had paroxysmal kinesigenic dyskinesia, and one had febrile seizure plus. Three children had a history of febrile seizures, whereas two had a family history of febrile seizures. Three children had well-controlled clinical epilepsy seizures or motor disorders. Finally, one child with spontaneous mutation had epigenetic abnormalities and comprehensive developmental delay, one had language developmental delay, and two (paternal or maternal) had a good prognosis. Regarding the zebrafish model, the cas9-control and adgrv1-edited groups demonstrated significant differences in the interocular areas of the zebrafish observed in the open field and the maximum swimming velocity under light stimulus. In neuroelectrophysiological testing, epilepsy-related signals were observed in 2 of 26 adgrv1-edited group fish. We believe that, mutations in the ADGRV1 may lead to epileptic seizures and movement disorders. The patients usually have a history of febrile seizures or a family history. Through research using the zebrafish model, it has been found that ADGRV1 mutations can affect the expression of eye and the neuromotor development of zebrafish larvae. This might be one of the reasons for epileptic seizures caused by ADGRV1 gene mutations.

Clinical and molecular analysis of ESBL, carbapenemase, and colistin-resistant bacteria in UTI patients.

Uropathogens, particularly bacteria, can infect any part of the urinary tract and cause bacteriuria. Our study aimed to examine the antibiotic-resistant profile, associated risk factors, and phenotypic and genotypic features of ESBL, carbapenemase, and mcr resistance genes in multidrug-resistant bacteria. Samples were inoculated on culture media, identified using standard biochemical tests, and species confirmation was performed via 16S rRNA gene amplification. Furthermore, antibiotic susceptibilities were evaluated using the Kirby-Bauer disc diffusion method. The phenotypically confirmed resistant strains were further inspected for ESBL, carbapenemases, and mcr variants using PCR. Merely 57.24% (83/145) of the samples exhibited growth. Of these, 39.70% (33/83) were identified as Klebsiella pneumoniae, 27.70% (23/83) as Escherichia coli, 10.80% (9/83) as Pseudomonas aeruginosa, 9.60% (8/83) as Staphylococcus aureus, 7.20% (6/83) as Proteus mirabilis, and 4.80% (4/83) as Staphylococcus saprophyticus. Overall, 22.54% (16/71) of the gram-negative strains were confirmed molecularly to have resistant genes. The ESBL - producers accounted for 21.74% (5/23) of E. coli, 21.21% (7/33) of K. pneumoniae, and 22.22% (2/9) of P. aeruginosa. Likewise, carbapenemase-harboring strains included 6.06% (2/33) of K. pneumoniae, 4.35% (1/23) of E. coli, and 11.11% (1/9) of P. aeruginosa. Notably, 3.03% (1/33) of K. pneumoniae, 8.70% (2/23) of E. coli, and 11.11% (1/9) of P. aeruginosa strains tested positive for the mcr-1 gene. None of the Proteus strains showed any resistant genes. The most common variants were blaSHV-11 (non-ESBL) and blaCTX-M-15 (ESBL) accounted for 28.57% (4/14) each, blaTEM-116 accounted for 14.29% (2/14), blaSHV-1, blaSHV-75, blaTEM-1 and blaOXA-1 accounted for 7.14% (1/14) each of the ESBL. Similarly, the carbapenemase variants included blaOXA-48, blaNDM-1, blaVIM-1, and blaKPC-2, each accounting for 25.0% (1/4), while 37.50% (6/16) of the strains exhibited co-existence of different gene variants. Based on our findings, it can be concluded that females, especially those in middle age, were more infected. These pathogens exhibited a wide range of ESBL, carbapenemase, and mcr-1 variants. Imipenem was suggested as the preferred medication.

Outbreak of Rotavirus Diarrheal Infection among Adults in King County, Washington, January-June 2023.

Rotavirus is a leading cause of diarrhea among children but less known as a cause among adults. We describe clinical, epidemiologic, and genotype characteristics of a rotavirus outbreak among adults in King County, Washington occurring January-June 2023. Adult rotavirus incidence in 2023 was ten times higher than the same period in 2022 (5% versus 0.5% samples). Disease severity was mild. G9P[4], an uncommon, non-vaccine strain in USA, was the predominant genotype. Genotyping suggested spillover from children with subsequent spread among adults. Our study highlights benefits of routine testing and genotyping during outbreaks for surveillance, tracking, and understanding implications on vaccination.

Hemoglobin H disease caused by compound heterozygosity for α0-thalassemia Lamphun deletion and α+-thalassemia 3.7 kb deletion (--Lamphun/-α3.7) in a Thai elderly case

We report here for the first time with the deletional HbH disease caused by a compound heterozygosity for α0-thalassemia Lamphun type deletion and α+-thalassemia 3.7 kb deletion (--Lamphun/-α3.7) in a Thai elderly (61-year-old) subject. She was seen by her physician for fatigue and dyspnea. A physical examination revealed that she was a slightly pale patient. A complete blood cell count (CBC) showed microcytic hypochromic anemia (Hb 91 g/L, MCV 73.0 fL, and MCH 21.0 pg). However, she had no history for receiving a blood transfusion. Thus, the better understanding of genotype, phenotype, hematological and clinical features of this HbH disease (--Lamphun/-α3.7) will be useful for treatment, genetic counseling, prevention, and control programs of thalassemia in Thailand.