Gut mycobiome alterations and network interactions with the bacteriome in patients with atherosclerotic cardiovascular disease by Guangming Su, Ping Huang, Dan Liu, Guorui Xing, Ruochun Guo, Shenghui Li, Shao Fan, Lin Cheng, Qiulong Yan, Wei Yang

“…The gut mycobiome composition in ACVD patients is significantly different, showing a rise in opportunistic pathogens like Candida albicans, Exophiala spinifera, and Malassezia restricta, with Exophiala and Malassezia showing the most significant changes (Wilcoxon rank-sum test, P < 0.001, fold change >10). …”
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Novel nonsense mutation in gene CHRNA2 identified by whole-genome sequencing in infant with epilepsy disorder: A case report by Sultan Makhmetov, Kamila Temirkhanova, Saule Rakhimova, Nazerke Satvaldina, Ruslan Kalendar, Ulan Kozhamkulov, Aidos Bolatov, Mirgul Bayanova, Assiya Bazenova, Lyazzat Nazarova, Ainur Akilzhanova, Ulykbek Kairov

“…Moreover, according to various prediction tools (MutationTaster, SIFT, CADD, FATHMM-MKL, LRT, DANN, Eigen, and BayesDel), the mutation is characterized as pathogenic, which corresponds to the American College of Medical Genetics and Genomics (ACMG) classification. …”
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Evaluation of Tissue Tropism and Horizontal Transmission of a Duck Enteritis Virus Vectored Vaccine in One-Day-Old Chicken by Yassin Abdulrahim, Yingying You, Linggou Wang, Zhixiang Bi, Lihua Xie, Saisai Chen, Benedikt B. Kaufer, Armando Mario Damiani, Kehe Huang, Jichun Wang

“…Even though a recently developed DEV vector vaccine expressing the influenza hemagglutinin H5 of highly pathogenic avian influenza (DEV-H5) induces highly detectable anti-HA antibodies, safety issues hamper further vaccine development. …”
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Altered Toll-Like Receptor Signalling in Children with Down Syndrome by Dean Huggard, W. J. Koay, Lynne Kelly, Fiona McGrane, Emer Ryan, Niamh Lagan, Edna Roche, Joanne Balfe, T. Ronan Leahy, Orla Franklin, Ana Moreno-Oliveira, Ashanty M. Melo, Derek G. Doherty, Eleanor J. Molloy

“…Children with Down syndrome (DS) are prone to infections from these pathogens and have an increased risk of autoimmunity. …”
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Comparative growth kinetics and drug susceptibility of Mycobacterium tuberculosis lineages prevalent in Ethiopia: implications for tuberculosis treatment and management by Tesfaye Gebreyohannis Hailemariam, Tesfaye Gebreyohannis Hailemariam, Melaku Tilahun, Abay Atnafu, Tesfaye Gelanew, Tewodros Tariku Gebresilase, Mekdes Alemu Tola, Abaysew Ayele, Shewki Moga Siraj, Workineh Shibeshi, Kidist Bobosha, Liya Wassie, Yonas Hirutu, Ephrem Engidawork

“…Sub-lineage 4.1.2.1 followed by sub-lineage 4.2.2.2 had the highest maximum growth concentration (Cmax), indicating enhanced growth efficiency and adaptive traits that may increase their pathogenicity or resistance to host defenses or anti-TB drugs. …”
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Probiotic Potential of Lactic Acid Starter Cultures Isolated from a Traditional Fermented Sorghum-Millet Beverage by Stellah Byakika, Ivan Muzira Mukisa, Yusuf Byenkya Byaruhanga, Charles Muyanja

“…The cultures were examined for tolerance to acid and bile salts, bile salt hydrolase (BSH) activity, antibiotic susceptibility, biogenic amine production, mucin degradation, hydrophobicity, auto-aggregation, adherence to the ileum, coaggregation, and antimicrobial properties against selected pathogenic species. Lb. rhamnosus yoba 2012, a known probiotic, was the reference. …”
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Case Report: Prenatal diagnosis of novel compound heterozygous variants in WDR35 gene causing short-rib thoracic dysplasia 7 with or without polydactyly by Jianlong Zhuang, Junyu Wang, Zhengping Huang, Yu’e Chen, Chunnuan Chen

“…Both variants were thought of as pathogenic, which was further confirmed by Sanger sequencing and qPCR. …”
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Deployment of next-generation sequencing approach for variant detection in myocardial infarction: A concise investigation by Desaraju Suresh Bhargav, Nadeem Siddiqui, Bhadra Murthy V, Vijaya Tartte, Vanaja V

“…Conclusion: To ascertain pathogenicity and role in the emergence of MI-related disorders these genes were mapped to online databases. …”
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Diagnosis and treatment of thyroblastoma: a case report and review of literature by Xiting Chen, Xiting Chen, Lijuan Xiong, Lijuan Xiong, Hongling Liu, Haoqiang Wang, Donghai Cheng, Wei Wang, Wenyuan He, Bo Xie, Juan Zhou

“…Next-generation sequencing (NGS) confirmed the presence of germline DICER1 heterozygous pathogenic mutation at p.G1784* in patient, accompanied by the somatic hotspot mutation at p.E1813D of the RNase IIIb domain. …”
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Duodenal Organoids From Metabolic Dysfunction-Associated Steatohepatitis Patients Exhibit Absorptive and Barrier Alterations by Alia Hadefi, Morgane Leprovots, Gilles Dinsart, Maryam Marefati, Marjorie Vermeersch, Daniel Monteyne, David Pérez-Morga, Anne Lefort, Frédérick Libert, Laurine Verset, Claire Liefferinckx, Christophe Moreno, Jacques Devière, Eric Trépo, Marie-Isabelle Garcia

“…Though MASH is closely tied to metabolic risk factors, the underlying pathogenic mechanisms remain scarcely understood. Recent research has emphasized the importance of the gut-liver axis in its pathogenesis, an aspect less explored in human studies. …”
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Evaluation of a PCR-based lateral flow device for detecting Aspergillus and Candida species from clinical specimens by Ariff Khalid, Jacinta Santhanam, Mohd Nizam Tzar, Ang-Lim Chua, Sharifah Fadilah Abdul Wahid, Wan Rahiza Wan Mat, Raha Abd Rahman, Petrick Periyasamy

“…In this research a rapid and easy to use immunochromatography-based DNA biosensor system was developed to detect Candida and Aspergillus pathogens at genus level, while specifically detecting Candida glabrata, Candida krusei and Aspergillus terreus. …”
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Choosing the most suitable NGS technology to combine with a standardized viral enrichment protocol for obtaining complete avian orthoreovirus genomes from metagenomic samples by Sonsiray Álvarez-Narváez, Sonsiray Álvarez-Narváez, Telvin L. Harrell, Islam Nour, Sujit K. Mohanty, Steven J. Conrad

“…Since viruses are obligate intracellular pathogens, sequencing their genomes results in metagenomic data from both the virus and the host. …”
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Chitosan oligosaccharides maintained postharvest quality and increased shelf life of mango by Nishat Nitu, Md. Sefat Ullah, Prianka Howlader, Md. Nazmul Mehedi, Habiba Meem, Santosh Bose

“…It exhibits very short shelf life mainly due to high respiration rate, susceptible to various storage pathogens and mechanical injuries at the time of postharvest management which lead to reduce the quality. …”
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Comprehensive Metabolomic Profiling in Adults with X-Linked Hypophosphatemia: A Case-Control Study by Luis Carlos López-Romero, José Jesús Broseta, Marta Roca-Marugán, Noemí Máñez Ramírez, Julio Hernández-Jaras

“…These findings enhance understanding of potential pathogenic mechanisms and offer a metabolic basis for further in-depth investigations into XLH.…”
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Unraveling the causal impact of smoking and its DNA methylation signatures on cardiovascular disease: Mendelian randomization and colocalization analysis by Si Cao, Youjie Zeng, Ke Pang, Minghua Chen, Ren Guo, Nayiyuan Wu, Chao Fang, Huiyin Deng, Xiaoyi Zhang, Xiaohui Xie, Wen Ouyang, Heng Yang

“…Conclusion This study uncovers the relationship between smoking, DNA methylation, and CVDs, providing new insights into the pathogenic effect of smoking on CVDs from an epigenetic perspective.…”
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Clinical Features and Genetic Characteristics of XLID Patients With KDM5C Gene Mutations: Insights on Phenotype–Genotype Correlations From 175 Previous Cases and Identification of... by Mohammad‐Reza Ghasemi, Zahra Esmaeilizadeh, Sahand Tehrani Fateh, Hossein Sadeghi, Saman Bagheri, Farzad Hashemi‐Gorji, Morteza Sheikhi Nooshabadi, Rasoul Madannezhad, Toktam Sadat Tavabe Ghavami, Reza Mirfakhraie, Mohammad Miryounesi

“…It also identifies a novel pathogenic variant and emphasizes the importance of considering gender‐specific factors and further research to understand the underlying molecular mechanisms. …”
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Review of Urinary Tract Infections in Pregnancy: Risks, Complications and Management by Patrycja Kałuziak, Jakub Parys, Agnieszka Mikosińska, Martyna Kaźmierczak, Marta Jajczak, Maciej Mossakowski, Aleksandra Witek, Mateusz Litwin, Stanisław Jesionek

“…As most antibiotics cross the placenta, treatment must be safe for the fetus and effective against the pathogens. Guidelines recommend short courses of antibiotics.  …”
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Case Report: Novel ADA2 variants cause atypical adenosine deaminase 2 deficiency by Haishao Yu, Haishao Yu, Shuangzhu Lin, Lin Li, Jiayi Li, Qiandui Chen, Yuheng Wu, Yangfan Qi, Wanqi Wang, Xingzhi Chang, Jie Zhang

“…DADA2 was finally confirmed by enzymology and genetic testing, and we believe this is the first reported case of the c.1082-7T&gt;A intronic variant in DADA2, and the RNA studies conducted in this case have been pivotal in assessing its pathogenicity.…”
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Genetic Analysis of Undiagnosed Juvenile GM1-Gangliosidosis by Microarray and Exome Sequencing by Ahmed Bouhouche, Houyam Tibar, Yamna Kriouale, Mohammed Jiddane, Imane Smaili, Naima Bouslam, Ali Benomar, Mohamed Yahyaoui, Elmostafa El Fahime

“…To identify the disease-causing mutation, we performed a whole exome sequencing and a chromosomal microarray genotyping in order to reduce the number of genetic variants to be interpreted, by focusing the data analysis only on the linked loci. The already known pathogenic missense mutation c.601G>A in GLB1 (p.R201C) was found at homozygous state in the proband V.1 and at heterozygous state in his father IV.1. …”
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Comparative genomics analyses of Actinobacteriota identify Golgi phosphoprotein 3 (GPP34) as a widespread ancient protein family associated with sponge symbiosis by Cláudia Ferreira, Ilia Burgsdorf, Tzipora Perez, Gustavo Ramírez, Maya Lalzar, Dorothée Huchon, Laura Steindler

“…Conclusions Given previous studies showing that GPP34 is a phosphatidylinositol-4-phosphate (PI4P)-binding protein in eukaryotes and that other PI4P-binding proteins from bacterial pathogens can interfere with phagolysosome maturation, we propose that symbionts employ GPP34 to modulate phagocytosis to colonize and persist within sponge hosts. …”
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