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21 pages, 824 KB  
Article
Characterization of Infant Formulae Marketed in Italy and Virulence Potential of Bacillus cereus Isolates
by Viviana Fusi, Simone Stella, Emilia Ghelardi, Francesco Celandroni, Cristian Bernardi, Maria Filippa Addis, Clara Locatelli, Chistian Scarano, Francesca Piras, Giuliana Siddi and Erica Tirloni
Foods 2026, 15(3), 536; https://doi.org/10.3390/foods15030536 - 3 Feb 2026
Abstract
This study aimed to evaluate the microbiological quality and safety of powdered formulae intended for infant consumption on the Italian market. A total of 83 samples, including 23 infant formulae (PIF), 42 follow-on formulae (FOF), and 18 formulae for special medical purposes (SMPs), [...] Read more.
This study aimed to evaluate the microbiological quality and safety of powdered formulae intended for infant consumption on the Italian market. A total of 83 samples, including 23 infant formulae (PIF), 42 follow-on formulae (FOF), and 18 formulae for special medical purposes (SMPs), were taken between 2023 and 2024. Low total viable counts were highlighted with all SMP samples, 87.0% of PIF samples and 97.6% of FOF samples being compliant with the threshold set by the Code of Hygienic Practice for Powdered Formulae for Infants and Young Children (2.70 Log CFU/g). High contamination levels (>4 Log CFU/g) were found exclusively in PIF (8.7%) and FOF samples (2.4%). Considering potential pathogenic bacteria, the presence of Listeria monocytogenes, Yersinia enterocolitica, Salmonella spp., Bacillus cereus, and Cronobacter sakazakii was investigated. Enumeration of Bacillus cereus, Staphylococcus aureus, and Clostridia was also performed. Only presumptive B. cereus was detected (37 samples, and in 3 samples was enumerated with counts equal to 1 Log CFU/g). A total of 42 presumptive B. cereus isolates were tested for the production of hemolysin BL, phosphatidylcholine-specific phospholipase C, proteases, and for the presence of chromosomal toxin-encoding genes, showing a relevant prevalence of virulence factors and highlighting a potential concern for infants. The antimicrobial resistance pattern of the isolates showed high resistance rates to β-lactams and a moderate resistance to erythromycin. A chemical–physical characterization of the formulae was also performed showing high heterogeneity in terms of pH, Aw, and concentration of organic acids. The results obtained provide useful information for monitoring the potential exposition of infants to microbial populations and to evaluate the safety of the products available on the market. Full article
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14 pages, 942 KB  
Article
Dietary Pistachio Skin Effects on Antibiotic-Free Lamb: Virulence Traits, Antimicrobial Resistance, and Clonal Relatedness in Commensal Escherichia coli Strains
by Nunziatina Russo, Georgiana Bosco, Lisa Solieri, Maria Ronsivalle, Alessandra Pino, Amanda Vaccalluzzo, Cinzia Caggia and Cinzia Lucia Randazzo
Antibiotics 2026, 15(2), 160; https://doi.org/10.3390/antibiotics15020160 - 3 Feb 2026
Abstract
Background/Objectives: In food-producing animal (FPA) environments, healthy animals can act as reservoirs of potentially pathogenic Escherichia coli, which can be transmitted through the food chain to humans. This study aimed to evaluate cloacal E. coli in healthy Sicilian lambs subjected to [...] Read more.
Background/Objectives: In food-producing animal (FPA) environments, healthy animals can act as reservoirs of potentially pathogenic Escherichia coli, which can be transmitted through the food chain to humans. This study aimed to evaluate cloacal E. coli in healthy Sicilian lambs subjected to an experimental feeding regimen by assessing bacterial levels, antimicrobial resistance, virulence traits, and the clonal relationships, as well as the impact of a pistachio skin as an agro-industrial by-product supplement during a 58-day feeding trial. Methods: A total of 295 E. coli isolates from the control (CTRL) and treatment (Treated) groups at initial time (T0) and final time (T1) were phenotypically and genotypically characterized using Kirby–Bauer antimicrobial testing, multiplex PCR for virulence genes, and PFGE for clonal analysis. Results: The feeding regimen did not significantly influence the prevalence, abundance, or virulence of the E. coli isolates. Shiga toxin-producing E. coli (STEC) were the most common pathotype, mainly carrying the stx1 gene, while the Enteroinvasive (EIEC) type was detected only sporadically. Enteropathogenic E. coli (EPEC) predominated at T0, while enteroaggregative E. coli (EAEC) at T1, and enterotoxigenic E. coli (ETEC), initially prevalent in Treated samples, disappeared by T1. Antimicrobial resistance profiles varied among isolates, with the highest resistance observed in the CTRL group. However, both groups exhibited high resistance to streptomycin, and 9% of CTRL isolates were multidrug resistant. A notable reduction in overall resistance rates, especially in the Treated group, was observed, indicating a dietary effect on the E. coli resistome. PFGE genotyping showed high genetic diversity, with resistance traits more frequently detected than virulence factors. Conclusions: This study highlights that healthy lambs serve as reservoirs for potentially human-pathogenic E. coli and suggests that dietary regimes could effectively reduce antibiotic resistance. Full article
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17 pages, 2880 KB  
Article
Isolation, Identification, and Molecular Characterization of Mycoplasma bovis from Beef Cattle in Kunming, and Development of a SYBR Green qPCR Assay
by Guojun Wang, Yuqing Li, Lixian Liu, Ling Zhao, Veerasak Punyapornwithaya, Wentao Zhao, Yan Liu, Tianlong Qi and Wengui Li
Pathogens 2026, 15(2), 162; https://doi.org/10.3390/pathogens15020162 - 2 Feb 2026
Abstract
Mycoplasma bovis (M. bovis) is a major pathogen responsible for bovine respiratory disease, mastitis, and arthritis, causing significant economic losses to the cattle industry worldwide. To elucidate the genetic and biological characteristics of M. bovis circulating in Yunnan Province, China, twenty [...] Read more.
Mycoplasma bovis (M. bovis) is a major pathogen responsible for bovine respiratory disease, mastitis, and arthritis, causing significant economic losses to the cattle industry worldwide. To elucidate the genetic and biological characteristics of M. bovis circulating in Yunnan Province, China, twenty PCR-positive bovine respiratory samples were collected from cattle farms in Kunming; three isolates—M.bo-YNXD-1, A1, and A8—were successfully cultured and identified through colony morphology, biochemical assays, and molecular characterization. Antimicrobial susceptibility testing showed that M.bo-YNXD-1 exhibited multidrug resistance to six antibiotics, including ciprofloxacin and lincomycin, while A1 and A8 were resistant to one or two agents, respectively. Multilocus sequence typing (MLST) analysis revealed that isolates M.bo-YNXD-1 and M.bo-YNXD-A8 belonged to sequence type ST52, whereas isolate M.bo-YNXD-A1 was assigned to ST90, indicating the coexistence of distinct genetic lineages in this region. Virulence gene screening showed that isolate M.bo-YNXD-A8 was positive for VspX and p81, whereas all three isolates were positive for p48 and Vpam. A SYBR Green I-based quantitative PCR (qPCR) assay targeting the oppD/F gene was established, exhibiting high specificity, a detection limit of 10 copies/μL, and intra-/inter-assay variation below 3%. Validation using clinical samples demonstrated superior sensitivity compared with conventional PCR. Taken together, these findings indicate the presence of distinct MLST genotypes and virulence-associated genetic heterogeneity among regional Mycoplasma bovis isolates, and introduce a rapid, sensitive, and reliable qPCR assay for early detection and epidemiological surveillance. This study provides critical insights for rational antimicrobial use and targeted control strategies against M. bovis infections. Full article
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22 pages, 974 KB  
Review
Frequency of Founder Mutations in BRCA1 and BRCA2 Genes in Hereditary Breast Cancers in Poland vs. Other Countries
by Beata Kulikowska, Barbara Panasiuk and Renata Posmyk
Cancers 2026, 18(3), 492; https://doi.org/10.3390/cancers18030492 - 2 Feb 2026
Abstract
Breast cancer (BC) remains one of the most prevalent malignancies worldwide, and genetic factors may influence its development. Approximately 10–15% of all BCs are hereditary and known as Hereditary Breast Cancer (HBC). A remarkable family history and young onset are the strongest risk [...] Read more.
Breast cancer (BC) remains one of the most prevalent malignancies worldwide, and genetic factors may influence its development. Approximately 10–15% of all BCs are hereditary and known as Hereditary Breast Cancer (HBC). A remarkable family history and young onset are the strongest risk factors of HBC. The rapid development of genetic testing techniques has increased the detection rate of pathogenic and likely pathogenic variants in several genes associated with high, moderate, or low risk of HBC. This allowed us to identify the whole family at risk of HBC. Among hereditary cases, pathogenic variants (PVs) in the BRCA1 and BRCA2 genes are particularly notable, especially in certain populations where founder mutations (specific genetic variants originating from a common ancestor) are more prevalent. In this article, an overview of the current state of knowledge on HBC is provided, focusing on the frequency of founder mutations in the BRCA1 and BRCA2 genes in HBC in Poland compared to other countries. We will also highlight the role of genetic counseling in the diagnosis and treatment of BC, emphasizing its crucial importance in identifying genetic predispositions, selecting appropriate therapeutic strategies, and supporting patients and their families in making informed medical decisions. Full article
(This article belongs to the Section Cancer Causes, Screening and Diagnosis)
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13 pages, 748 KB  
Article
Antibiotic Resistance Pattern and Surgical Outcome in Complicated Intra-Abdominal Infections Due to Colorectal Perforation
by Jacopo Giuliani, Camilla Cremonini, Serena Musetti, Giuseppe Zocco, Ismail Cengeli, Dario Tartaglia, Massimo Chiarugi, Alice Salamone, Ettore Melai, Francesco Forfori, Benedetta Tuvo, Iacopo Franconi, Antonella Lupetti, Lorenzo Ghiadoni and Federico Coccolini
Antibiotics 2026, 15(2), 147; https://doi.org/10.3390/antibiotics15020147 - 2 Feb 2026
Abstract
Background: Intra-abdominal infections (IAIs) are one of the leading causes of non-traumatic death in emergency surgery units. The appropriateness of empirical antibiotic therapy is fundamental for outcomes and for limiting the spread of resistance. This study aimed to assess the epidemiology and antibiotic [...] Read more.
Background: Intra-abdominal infections (IAIs) are one of the leading causes of non-traumatic death in emergency surgery units. The appropriateness of empirical antibiotic therapy is fundamental for outcomes and for limiting the spread of resistance. This study aimed to assess the epidemiology and antibiotic resistance patterns of microorganisms recovered from complicated intra-abdominal infections due to colorectal perforation at an Italian University Hospital during a nine-year period. Methods: This study evaluated a cohort of patients subjected to emergency surgery for colonic perforation with collected intrabdominal fluid samples from 2015 to 2024. Patterns of isolated bacteria and antibiotic resistance status were collected and correlated to patient outcomes. Results: 321 patients were enrolled; the average age was 70.2 years. The main diagnoses were complicated diverticulitis (58%), colorectal carcinoma perforation (18%), and acute intestinal ischemia (24%). 80.4% were immunocompromised; average hospital stay (HLOS) was 15.6 days; 60.1% developed postoperative complications. Microbiological cultures were available for 111 patients: 56.7% had mono-microbial infections and 43.3% multi-microbial infections. 53 antibiotics and 9 antifungals were tested, with resistance rates exceeding 20% for many pathogens. Multivariate analyses showed that documented IAIs are associated with longer postoperative hospital stays (p 0.003 CR 8.075) but not with patient mortality (p 0.031). Prolonged HLOS was more commonly observed in patients with polymicrobial infections or infections caused by multi-drug-resistant organisms (p 0.03; p 0.003). Conclusions: Microbiological characteristics of isolated bacteria do not directly influence mortality; however, the presence of polymicrobial infections and resistant pathogens directly affects the duration of hospitalization and often leads to the development of chronic disease conditions. Full article
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32 pages, 6380 KB  
Article
Identification and Development of Pathogen- and Pest-Specific Defense–Resistance-Associated SSR Marker Candidates Assisted by Machine Learning and Discovery of Putative QTL Hotspots in Camellia sinensis
by Ayşenur Eminoğlu
Plants 2026, 15(3), 454; https://doi.org/10.3390/plants15030454 - 2 Feb 2026
Abstract
In this study, a targeted SSR (Simple Sequence Repeat) marker resource was developed based on genes and protein families associated with pathogen- and pest-related defense–resistance mechanisms in Camellia sinensis. Forty-one genes and protein families reported to show upregulation, increased expression, or functional [...] Read more.
In this study, a targeted SSR (Simple Sequence Repeat) marker resource was developed based on genes and protein families associated with pathogen- and pest-related defense–resistance mechanisms in Camellia sinensis. Forty-one genes and protein families reported to show upregulation, increased expression, or functional validation under disease and pest stress were selected, and the corresponding 195 loci were mapped onto the Camellia sinensis cv. Shuchazao genome. SSR screening within gene bodies and gene-flanking regions (±5 kb) identified 5197 SSR loci. Putative QTL hotspot regions were defined using locus-based sliding-window analysis, Z-score calculations, and permutation tests, yielding 633 SSRs filtered at the 99% and 95% significance thresholds. Proteome-wide scans based on conserved amino acid motifs identified multiple loci within the WRKY, NAC, LRR, PRX, and CHI families, and Random Forest analysis was used to prioritize SSRs within these families. Finally, 386 SSR primer sets were designed and evaluated by in silico PCR across six tea genomes. Of these, 245 primers produced amplicons in more than one genome, and 124 exhibited polymorphic information content values greater than 0.500. Overall, the developed SSR panels represent a biologically contextualized and experimentally transferable marker resource targeting defense–resistance-associated genic and gene-proximal regions. Full article
(This article belongs to the Special Issue Genomics and Transcriptomics for Plant Development and Improvement)
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26 pages, 13963 KB  
Article
Deciphering Drought Response Mechanisms in Oat Through Comprehensive Transcriptomic and Physiological Analysis
by Baiji Wang, Hang Yin, Xinyi Zhang, Xiangpeng Kong, Wenjie Zhao, Rui Qiu, Muzhapaer Tuluhong, Guowen Cui and Bing Li
Plants 2026, 15(3), 453; https://doi.org/10.3390/plants15030453 - 1 Feb 2026
Viewed by 69
Abstract
Oat, an important cereal and forage crop, is significantly affected by drought stress during production. However, the molecular mechanisms underlying oat’s response to drought stress remain largely unknown. In this study, K-means clustering classified 28 oat varieties into drought-tolerant (Muda, Mengshi No. 1) [...] Read more.
Oat, an important cereal and forage crop, is significantly affected by drought stress during production. However, the molecular mechanisms underlying oat’s response to drought stress remain largely unknown. In this study, K-means clustering classified 28 oat varieties into drought-tolerant (Muda, Mengshi No. 1) and drought-sensitive (Heike, Haywire) groups, with grey relational analysis further verifying MS as the most drought-tolerant and HK as the most drought-sensitive variety. Under drought stress, drought-tolerant and drought-sensitive varieties showed notable differences in leaf chlorophyll content, osmoregulation substances, and the activities of antioxidant enzymes. Transcriptomic analysis showed that 1915 differentially expressed genes (DEGs) were shared among all comparisons between treatment groups and the control group. KEGG pathway analysis revealed enrichment in pathways such as plant–pathogen interactions, plant hormone signal transduction, and starch and sucrose metabolism. In the signal transduction of plant hormones, eight PP2C genes associated with ABA signaling were increased, indicating that oats might respond to drought by enhancing metabolic activities via the ABA signaling pathway. WGCNA identified gene modules significantly associated with physiological traits. Notably, Mantel tests revealed that six core genes exhibited a positive correlation with CAT activity in the drought-tolerant variety, while showing an opposite trend in the sensitive variety. This study provides insights into the mechanisms of drought tolerance in oats and aids in the molecular breeding of drought-tolerant varieties. Full article
(This article belongs to the Section Crop Physiology and Crop Production)
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22 pages, 949 KB  
Review
Biomarkers in Invasive Pulmonary Fungal Infections: Where Do We Stand?
by Isabel Montesinos and Hector Rodriguez-Villalobos
J. Fungi 2026, 12(2), 104; https://doi.org/10.3390/jof12020104 - 1 Feb 2026
Viewed by 231
Abstract
Invasive pulmonary fungal infections remain a major cause of morbidity and mortality among immunocompromised and critically ill patients. Rapid and accurate diagnosis is crucial for improving outcomes, yet conventional methods such as culture and histopathology suffer from limited sensitivity and slow turnaround times. [...] Read more.
Invasive pulmonary fungal infections remain a major cause of morbidity and mortality among immunocompromised and critically ill patients. Rapid and accurate diagnosis is crucial for improving outcomes, yet conventional methods such as culture and histopathology suffer from limited sensitivity and slow turnaround times. Recently, significant progress has been made in the development and standardization of serological and molecular biomarkers that enhance the early detection of the key pulmonary fungal diseases, particularly invasive pulmonary aspergillosis and pneumocystosis. Diagnostic tools for mucormycosis, however, remain scarce. PCR tools have strong potential to significantly improve early detection, but they are not yet widely implemented, and standardized commercial assays remain limited. Accessible antigen-based tests with robust performance are highly anticipated and expected to become available soon. This review summarizes the current evidence regarding the optimal use of galactomannan, β-D-glucan and PCR-based assays, emphasizing how their performance varies according to the pathogen, the type of specimen and the host population. Specific challenges, such as differentiating colonization from infection in non-HIV Pneumocystis pneumonia or interpreting galactomannan and PCR in patients receiving mold-active prophylaxis, are highlighted. We also discuss how combining biomarkers can enhance diagnostic accuracy and support timely therapeutic decisions. A clear understanding of the strengths, limitations and appropriate interpretation of these diagnostic tools is crucial in an era of increasing host complexity, shifting fungal epidemiology, and expanding antifungal options. Full article
(This article belongs to the Special Issue Advances and Innovations in Fungal Infections)
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15 pages, 1399 KB  
Article
Neonatal Genetic Screening Results for Spinal Muscular Atrophy in Romania: Insights from a 3-Years Pilot Program
by Madalina Cristina Leanca, Gelu Onose, Georgiana Nicolae, Elena Neagu, Daniela Vasile, Ecaterina Bercu, Oana Mirabela Balanescu, Andrei Capitanescu, Constantin Munteanu, Cristina Popescu and Andrada Mirea
Int. J. Neonatal Screen. 2026, 12(1), 6; https://doi.org/10.3390/ijns12010006 - 1 Feb 2026
Viewed by 41
Abstract
Spinal muscular atrophy (SMA) is a severe genetic neuromuscular disorder caused by bi-allelic deletions or pathogenic SMN1 variants. Early diagnosis through neonatal screening is essential for timely therapeutic intervention, significantly improving clinical outcomes. In August 2022, a pilot neonatal screening program for SMA [...] Read more.
Spinal muscular atrophy (SMA) is a severe genetic neuromuscular disorder caused by bi-allelic deletions or pathogenic SMN1 variants. Early diagnosis through neonatal screening is essential for timely therapeutic intervention, significantly improving clinical outcomes. In August 2022, a pilot neonatal screening program for SMA was launched in Romania, aiming to assess feasibility and impact. Objectives are to present the preliminary results of the ongoing SMA neonatal screening pilot program in Romania, evaluating its effectiveness in early detection and referral for treatment. The program started in August 2022 with four maternity hospitals and has progressively expanded to 28 maternity hospitals nationwide. Dried blood spot samples from newborns were analyzed for SMN1 gene deletions using real-time PCR. Positive results were confirmed through genetic testing, and affected infants, along with their families, were referred for further medical evaluation and early therapeutic intervention. Approximately 60,000 newborns have been screened since the program’s inception, and 12 newborns tested positive for SMN1 deletions, resulting in an estimated incidence rate of 1 in 5125 live births. All confirmed cases were promptly referred for specialized care, with early access to disease-modifying therapies. The program has faced challenges in logistics, parental awareness, and equitable access to treatment, but its expansion from 4 to 28 maternities demonstrates increasing feasibility, suitability, and acceptance. Conclusions: The Romanian pilot neonatal screening program for SMA has successfully identified affected infants early, proving its feasibility and clinical impact. The ongoing expansion suggests a strong foundation for a future national program, which could significantly improve early SMA diagnosis and patient outcomes in Romania. Full article
26 pages, 1183 KB  
Review
From Production to Application: Postbiotics in Meat, Meat Products, Other Food Matrices, and Bioactive Packaging
by Miłosz Trymers, Patryk Wiśniewski, Katarzyna Tkacz and Arkadiusz Zakrzewski
Foods 2026, 15(3), 501; https://doi.org/10.3390/foods15030501 - 1 Feb 2026
Viewed by 54
Abstract
Postbiotics represent a promising strategy for reconciling increasing consumer demand for clean-label foods with the need to maintain high microbiological safety standards. The present review analyzed the applications of postbiotics in meat products, other food matrices and bioactive packaging, with particular emphasis on [...] Read more.
Postbiotics represent a promising strategy for reconciling increasing consumer demand for clean-label foods with the need to maintain high microbiological safety standards. The present review analyzed the applications of postbiotics in meat products, other food matrices and bioactive packaging, with particular emphasis on their production methods, compositional analysis and antimicrobial properties. Available evidence indicates that postbiotics offer important technological advantages over live probiotics, including enhanced stability during processing and storage and the absence of viable cells, which facilitates their integration into established food quality and safety control systems. The reviewed studies show that postbiotics produced mainly via fermentation with selected lactic acid bacteria and subsequently stabilized, most often by freeze-drying, exhibit pronounced antimicrobial activity in diverse food matrices, particularly meat and dairy products. Their ability to inhibit the growth of major foodborne pathogens, such as Listeria monocytogenes, Staphylococcus aureus, Escherichia coli, and Salmonella spp., highlights their potential as effective biopreservatives contributing to shelf-life extension and improved microbiological safety. From an industrial perspective, postbiotics can be implemented within the framework of hurdle technology and incorporated into active packaging systems and edible coatings. The wider use of postbiotics in industry remains limited by regulatory uncertainty and methodological diversity. Key challenges include inconsistent taxonomic/strain reporting, divergent methods of inactivation and final processing (which alter bioactive profiles), lack of standardized composition and potency testing, and limited food matrix validation and toxicological data. To eliminate these gaps, regulatory definitions and labelling should be harmonized, and guidelines for production and reporting (strain identity, inactivation parameters, preservation method), and targeted safety and shelf-life testing are recommended. These steps are necessary to translate the documented antibacterial and antioxidant properties of postbiotics into industrial applications. Full article
(This article belongs to the Special Issue Feature Review on Food Analytical Methods)
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21 pages, 1892 KB  
Article
Study on Antimicrobial Resistance and Molecular Characteristics of Riemerella anatipestifer
by Ming Yan, Xiaofei Song, Hui Chen, Hongxue Zhang, Youzhi Li, Daozheng Liu, Baotao Liu and Ming Zou
Animals 2026, 16(3), 442; https://doi.org/10.3390/ani16030442 - 31 Jan 2026
Viewed by 76
Abstract
Riemerella anatipestifer (R. anatipestifer) is a pathogenic bacterium belonging to the genus Riemerella within the family Flavobacteriaceae, which has multidrug resistance (MDR) and can cause high pathogenicity in waterfowl. The aim of this study was to investigate the antimicrobial resistance and [...] Read more.
Riemerella anatipestifer (R. anatipestifer) is a pathogenic bacterium belonging to the genus Riemerella within the family Flavobacteriaceae, which has multidrug resistance (MDR) and can cause high pathogenicity in waterfowl. The aim of this study was to investigate the antimicrobial resistance and genomic characteristics of R. anatipestifer strains isolated from several regions of China from 2023 to 2024. Two strains were selected for challenge tests, and virulence protection tests were conducted on florfenicol-resistant and florfenicol-sensitive strains. A total of 88 strains of R. anatipestifer were collected from the Shandong, Jiangsu, Guangdong, Hebei and Henan regions. The results showed that the 88 strains included serotypes 1, 2, 5, 6, 7 and 10. Serotype 5 was the most prevalent in the Shandong region. All strains were multidrug-resistant, with the hexaresistance accounting for the highest proportion (42.1%). A total of five resistance genes (tet(X), floR, ermF, qnrS, rmtB) and seven virulence genes were found (ompA, camp, AS87_04050, SIP, Fur, TbdR1, luxE). The challenge test showed that the LD50 of RA12 was 2.75 × 107 CFU/mL, and that of RA26 was 2.57 × 107 CFU/mL. Phylogenetic tree analysis revealed that strain RA26 was closely related to strain 20190403E1-1, and strain RA16 was closely related to strain JW1. In addition, serotypes 2 and 7 identified in this study have been undergoing clonal transmission in China. Virulence protection tests indicated that the results of in vitro drug susceptibility tests were consistent with the therapeutic effects after in vivo treatment, and no R. anatipestifer was found in the visceral tissues of surviving ducklings. This study provides a reference for the rational use of antibiotics. Full article
(This article belongs to the Section Veterinary Clinical Studies)
25 pages, 640 KB  
Article
Integrated Prenatal Genetic Evaluation of Renal Agenesis: Chromosomal Microarray Analysis, Whole Exome Sequencing, and Outcome Correlations in 203 Fetuses
by Na Zhang, Ruibin Huang, Fang Fu, Hang Zhou, Ru Li and Can Liao
Genes 2026, 17(2), 176; https://doi.org/10.3390/genes17020176 - 31 Jan 2026
Viewed by 78
Abstract
Objectives: To characterize the prenatal phenotypic spectrum, genetic findings, and pregnancy outcomes of fetal renal agenesis (RA), and to clarify the complementary roles of chromosomal microarray analysis (CMA) and whole exome sequencing (WES) in phenotype-stratified prenatal evaluation. Methods: This retrospective study included 203 [...] Read more.
Objectives: To characterize the prenatal phenotypic spectrum, genetic findings, and pregnancy outcomes of fetal renal agenesis (RA), and to clarify the complementary roles of chromosomal microarray analysis (CMA) and whole exome sequencing (WES) in phenotype-stratified prenatal evaluation. Methods: This retrospective study included 203 RA fetuses between March 2017 and November 2025. All cases underwent genome-wide copy number variant (CNV) analysis, and selected cases underwent WES. Detection rates were compared across subgroups by laterality, isolated vs. non-isolated phenotype, fetal sex, and presence of extrarenal anomalies. Pregnancy outcomes and postnatal imaging follow-up were collected when available. A systematic literature review of prenatal genetic testing in RA fetuses was performed. Results: Among 203 fetuses, unilateral RA accounted for 92.6% of cases, and 65.0% were isolated. Chromosomal abnormalities were identified in 15 fetuses (7.4%), including aneuploidies and pathogenic or likely pathogenic (P/LP) CNVs. WES identified P/LP single nucleotide variants in 8 of 127 cases (6.3%), increasing to 8.7% when variants with potential clinical relevance were included. Diagnostic yield of WES was significantly higher in bilateral RA, non-isolated cases, and fetuses with extrarenal anomalies. Postnatal follow-up confirmed RA in most liveborn cases, although additional phenotypes emerged in some children. Literature synthesis identified recurrent CNVs at 16p11.2 and 22q11.21 and frequent involvement of FRAS1, FREM2, GFRA1, and GREB1L. Conclusions: RA shows marked phenotypic and genetic heterogeneity. CMA remains a first-tier prenatal test, while WES provides substantial incremental yield in bilateral, non-isolated, or extrarenal-associated RA. Integrated, phenotype-driven testing with longitudinal follow-up supports improved prognostication and genetic counseling. Full article
12 pages, 7125 KB  
Case Report
Exome Sequencing Resolving a Complex Pediatric Neurodevelopmental Disorder After Inconclusive Prenatal Testing: A Case Report
by Margarita Panova, Hristo Ivanov and Iglika Sotkova-Ivanova
Children 2026, 13(2), 202; https://doi.org/10.3390/children13020202 - 31 Jan 2026
Viewed by 114
Abstract
Background: Prenatal detection of fetal structural anomalies often prompts chromosomal analysis; however, chromosomal microarray analysis (CMA) has limited diagnostic yield for monogenic disorders. Whole-exome sequencing (WES) has emerged as a powerful tool for identifying single-gene etiologies, particularly in cases with complex neurodevelopmental phenotypes. [...] Read more.
Background: Prenatal detection of fetal structural anomalies often prompts chromosomal analysis; however, chromosomal microarray analysis (CMA) has limited diagnostic yield for monogenic disorders. Whole-exome sequencing (WES) has emerged as a powerful tool for identifying single-gene etiologies, particularly in cases with complex neurodevelopmental phenotypes. Case Presentation: We report a female infant presenting with prenatally detected ventriculomegaly and inconclusive chromosomal testing. Prenatal investigations, including karyotyping and genome-wide chromosomal sequencing, identified several copy number variants classified as variants of uncertain significance but failed to establish a definitive diagnosis. Postnatally, the patient developed progressive neurological abnormalities, including microcephaly, facial dysmorphism, dystonic movements, and severe global developmental delay. Trio-based whole-exome sequencing identified a heterozygous de novo pathogenic missense variant in the DDX3X gene (c.976C>T; p.Arg326Cys), establishing the diagnosis of DDX3X-related neurodevelopmental disorder. Conclusions: This case highlights the diagnostic limitations of standard prenatal chromosomal testing in detecting monogenic neurodevelopmental disorders and underscores the critical role of timely genetic counseling and exome sequencing. Earlier selective implementation of WES during pregnancy could have enabled an earlier diagnosis, improved prognostic counseling, and optimized clinical decision-making. Full article
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13 pages, 1557 KB  
Article
Improvement of Resistance to Rice Blast and Bacterial Blight by CRISPR/Cas9-Mediated Mutagenesis of OsERF922 and Xa41 in Rice
by Liyong Zhang, Zhiying Zhou, Ruomin Wu, Yanhua Chen, Shixun Huang, Cirenqunzong, Yan Yue, Bin Wang, Minfeng Song, Huabin Xie, Tao Guo, Chun Chen, Zhaxiluobu and Jiafeng Wang
Agronomy 2026, 16(3), 349; https://doi.org/10.3390/agronomy16030349 - 30 Jan 2026
Viewed by 97
Abstract
Rice blast and bacterial blight are two major diseases that seriously threaten rice production. Developing rice germplasm with enhanced resistance to multiple diseases while maintaining favorable agronomic traits is essential for sustainable breeding. In this study, two rice landraces from Motuo County, Xizang [...] Read more.
Rice blast and bacterial blight are two major diseases that seriously threaten rice production. Developing rice germplasm with enhanced resistance to multiple diseases while maintaining favorable agronomic traits is essential for sustainable breeding. In this study, two rice landraces from Motuo County, Xizang Autonomous Region, China, Benglinba and Gare, were used to simultaneously edit OsERF922 and Xa41 using a structurally optimized dual-target CRISPR/Cas9 vector, pRGEB32-2T. A total of 32 and 28 T0 transgenic plants were generated in the Benglinba and Gare backgrounds, respectively. Targeted mutagenesis generated eight homozygous oserf922 mutants and three homozygous xa41 mutants in Benglinba, and four and five homozygous mutants in Gare. Twelve double homozygous mutant lines (nine Benglinba and three Gare) were selected for further analysis. Disease resistance assays showed that these double mutants exhibited significantly enhanced resistance to the rice blast fungus strain GDYJ7 and the bacterial blight pathogen strain GDXO-1, with markedly reduced lesion size or lesion length compared with wild-type plants (p < 0.001, Student’s t-test). Importantly, three independent T-DNA-free double mutant lines from each genetic background displayed no significant differences from their corresponding wild types in major agronomic traits, including plant height, effective panicle number, panicle length, seed-setting rate, or thousand-grain weight (p > 0.05). Grain quality parameters, such as brown rice rate, milled rice rate, amylose content, and gel consistency, were also unaffected. Overall, this study generated rice materials with enhanced resistance to rice blast and bacterial blight while maintaining elite agronomic and quality traits, providing valuable germplasm resources and a feasible strategy for the precise improvement of disease resistance in rice landraces from Xizang Autonomous Region. Full article
(This article belongs to the Section Agricultural Biosystem and Biological Engineering)
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Article
Relative Evaluation Approach for Cross-Room Exposure in a Detached House Using a Measurement-Informed Multizone Model
by Akihiro Katsuki, Koki Kikuta, Yu Tanaka, Masato Iguchi and Motoya Hayashi
Buildings 2026, 16(3), 583; https://doi.org/10.3390/buildings16030583 - 30 Jan 2026
Viewed by 91
Abstract
Household airborne transmission can be promoted when infectious and susceptible occupants share indoor air for long periods, yet practical infection-risk models often require pathogen-specific parameters that are uncertain. This study proposes a measurement-informed multizone/HVAC-network workflow that identifies inter-room airflow rates (q) [...] Read more.
Household airborne transmission can be promoted when infectious and susceptible occupants share indoor air for long periods, yet practical infection-risk models often require pathogen-specific parameters that are uncertain. This study proposes a measurement-informed multizone/HVAC-network workflow that identifies inter-room airflow rates (q) from CO2 tracer time series and estimates an effective first-order non-ventilation aerosol loss rate (λ) by fitting PM2.5 concentration decay dynamics; the identified parameters are then reused within the same whole-house recirculating network model (vtsim) to compute a steady-state exhaled-air tracer concentration index for scenario comparison. The workflow is demonstrated in a high-insulation, airtight detached house equipped with a duct-type whole-house air-conditioning system with return-air recirculation. The results indicate measurable cross-room dispersion under baseline operation and show that a return-side filtration scenario reduces the steady-state index in non-source rooms relative to baseline under the tested operating assumptions. These findings illustrate how measurement-informed identification can support rapid, threshold-free relative comparison of ventilation/HVAC operation or mitigation scenarios within a specific house, rather than estimating absolute infection probability. Limitations include potential non-uniqueness in inverse identification, simplified treatment of leakage and pressure-drop-induced airflow changes, and the use of a steady-state index for inherently transient residential exposures; further validation across additional houses and HVAC topologies is warranted. Full article
(This article belongs to the Section Building Energy, Physics, Environment, and Systems)
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