Detection of inversion with breakpoints in ARSB causing MPS VI by whole-genome sequencing: lessons learned and best practices by Yufeng Huang, Wenyue Deng, Hui Huang, Xiankai Zhang, Xiaohong Chen, Jian Ye, Sukun Luo, Ting Yu, Hui Yao, Hao Du, Xuelian He

“…IntroductionMucopolysaccharidosis type VI (MPSVI), an autosomal recessive lysosomal storage disorder caused by pathogenic variants in ARSB gene. Usually, whole exome sequencing (WES) can identify these variants, and if WES failed to detect causative variants, whole-genome sequencing (WGS) may be considered to investigate deep intronic variations and structural alterations in patients.MethodsWhole-exome sequencing (WES) and whole genome sequencing (WGS) were performed in a Chinese family having a boy with suspected diagnosis of MPS with macrocephaly, coarse facial features, broad forehead, thick lips, frontal bossing, craniosynostosis, blue spots, frequent upper respiratory infections, inguinal hernia, and dysostosis multiplex. …”
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Integrated omics revealed the altered colonic microenvironment after inhibition of peripheral serotonin synthesis by LP533401 by Yidan Ling, Ziyu Liu, Shuibing Han, Haiqin Wu, Chunlong Mu, Weiyun Zhu

“…Transcriptome profiling analysis indicated the discriminant expression of genes enriched in pathogen infection‐responsive signaling (e.g., Salmonella and Yersinia infection) and the Wnt signaling pathway that affected stem cell proliferation. …”
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Synthesis and Spectroscopic Studies of Axially Ligated Zn(II)5,10,15,20-meso-tetra(p-chlorophenyl)porphyrin with Oxygen and Nitrogen Donors by Gauri D. Bajju, Sujata Kundan, Ashu Kapahi, Deepmala Gupta

“…The invitro antifungal activity of the complexes synthesized above had been done by disc diffusion method against the pathogen “Fusarium spp.,” which shows that with the increase in the concentration of the complexes, the colony diameter decreases and hence percent inhibition increases.…”
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Genetic and neurochemical profiles underlying cortical morphometric vulnerability to Parkinson’s disease by Su Yan, Jun Lu, Bingfang Duan, Hongquan Zhu, Tian Tian, Yuanyuan Qin, Yuanhao Li, Wenzhen Zhu

“…Conclusions: Collectively, the present study offered interpretation of cortical morphological alterations and the cortical pathogenic theory in PD from genetic and neurochemical perspectives, which inspire further research on new pharmacotherapeutic approaches.…”
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Modeling Tick Populations: An Ecological Test Case for Gradient Boosted Trees by Manley, William, Tran, Tam, Prusinski, Melissa, Brisson, Dustin

“…The results highlight the potential of gradient boosted models to discover novel ecological phenomena affecting pathogen demography and as a powerful public health tool to mitigate disease risks. …”
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Familial Hemiplegic Migraine with Severe Attacks: A New Report with ATP1A2 Mutation by E. Martínez, R. Moreno, L. López-Mesonero, I. Vidriales, M. Ruiz, A. L. Guerrero, J. J. Tellería

“…We identified a variant in heterozygous state in ATP1A2 gene (p.Thr364Met), pathogenic according to different prediction algorithms (SIFT, PolyPhen2, MutationTaster, and Condel). …”
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Pseudomonas azotoformans and Pseudomonas putida: Novel kiwifruit-native biological control agents against Pseudomonas syringae pv. actinidiae by Cristiana Correia, Antonio Cellini, Irene Donati, Panagiotis Voulgaris, Adebayo Ebenezer Obafemi, Elia Soriato, Elodie Vandelle, Conceição Santos, Francesco Spinelli

“…In vitro metabolic analysis together with genome sequencing and annotation revealed siderophore production, in particular pyoverdine, which may limit iron availability to the pathogen. Moreover, several biosynthetic gene clusters of secondary metabolites, were predicted in the genome of both strains, including non-ribosomal peptides, and the bacteriocin pyocin was predicted in the genome of BG1. …”
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Characterization, Quantification, and Molecular Identification of Co-Infection of Canine Parvovirus (CPV-2) Variants in Dogs Affected by Gastroenteritis in Ecuador During 2022–2023... by Anthony Loor-Giler, Silvana Santander-Parra, Sara Castillo-Reyes, Martin Campos, Renán Mena-Pérez, Santiago Prado-Chiriboga, Luis Nuñez

“…Furthermore, it was discovered that in certain samples, a genetic modification at position 297 was connected to the virus’s pathogenicity.…”
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The role of cyclooxygenase-2 (COX-2) and inflammatory markers in the progress of Alport syndrome in Egyptian children by Moushira Zaki, Hisham A. Orban, Mohamed A. Shahba, Rehab S. I. Moustafa, Ahmed Adel, Fatina I. Fadel, Abeer Selim, Hala T. El-Bassyouni, Eman R. Youness

“…This contributes to the pathogenic mechanisms and advancement of the disease in Alport syndrome. …”
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Endogenous IL-33 Deficiency Exacerbates Liver Injury and Increases Hepatic Influx of Neutrophils in Acute Murine Viral Hepatitis by Virginie Carrière, Muhammad Imran Arshad, Jacques Le Seyec, Benjamin Lefevre, Muhammad Farooq, Aurélien Jan, Christelle Manuel, Laurence Touami-Bernard, Catherine Lucas-Clerc, Valentine Genet, Hugues Gascan, Jean-Philippe Girard, Frédéric Chalmel, Lucie Lamontagne, Claire Piquet-Pellorce, Michel Samson

“…We aimed to decipher its function by infecting IL-33-deficient mice (IL-33 KO) and their wild-type (WT) littermates with pathogenic mouse hepatitis virus (L2-MHV3). The IL-33 KO mice were more sensitive to L2-MHV3 infection exhibiting higher levels of AST/ALT, higher tissue damage, significant weight loss, and earlier death. …”
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Nonylphenol exposure increases the risk of Hirschsprung’s disease by inducing macrophage M1 polarization by Xuefeng Yang, Chengyan Tang, Daiwei Zhu, Xingrong Xia, Qing Du, Lu Huang, Jianguo Liu, Yuanmei Liu

“…Herein, we identified the content of NP and expression of lncRNA LINC00294/Inhibin Subunit Beta E (INHBE) axis in clinical samples and evaluated the crucial role of lncRNA LINC00294/INHBE axis in the neurogenic potential of neurons and the neurotoxicity effects of NP in the SH-SY5Y cells and female specific pathogen-free (SPF) rat model. Our results showed that NP concentration and LINC00294 were significantly associated with HSCR occurrence and macrophage polarization in human HSCR specimens. …”
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Isolation and Genomic Characterization of a Novel Porcine Reproductive and Respiratory Syndrome Virus 1 from Severely Diseased Piglets in China in 2024 by Shuai Yang, Meng Cui, Chen Li, Ming Qiu, Xiaoyang Zhu, Yanhan Lin, Yifan Meng, Yuejia Qiu, Wenhao Qi, Hong Lin, Wanglong Zheng, Jianzhong Zhu, Kewei Fan, Nanhua Chen

“…Overall, this study not only supported the idea that PRRSV-1 is rapidly evolving in Chinese swine herds, but also pulled the alarm that novel PRRSV-1 isolates with potentially increased pathogenicity might already exist in China, although they are still rarely detected among Chinese pigs.…”
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Development of a Multifunctional Chitosan-Based Composite Film from Crab Shell (<i>Portunus segnis</i>) and Algae (<i>Ulva lactuca</i>) with Enhanced Antioxidant and Antimicrobial... by Imen Zaghbib, Johar Amin Ahmed Abdullah, Alberto Romero

“…Moreover, antimicrobial tests showed significant inhibitory effects against pathogenic strains. Biodegradability tests confirmed that the films decomposed entirely within 12 days under soil burial conditions, reinforcing their environmental compatibility. …”
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The liver’s dilemma: sensing real danger in a sea of PAMPs: the (arterial) sinusoidal segment theory by Andrea Henriques-Pons, Natália Vacani-Martins, Carina de Lima Pereira dos Santos, Marcelo Meuser-Batista

“…This 24/7 exposure to high amounts of pathogen-associated molecular pattern (PAMPs) molecules results in hepatic immunological tolerance. …”
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Genomic characteristics of a Streptococcus suis of ST353 resulting in severe endophthalmitis with bilateral deafness by Liang Shen, Yanfei Tong, Shichao Li, Yuda Chen, Ruhan A, Zhen Li, Wenling Wang, Lijuan Yin, Jiuming Zou, Ziyong Sun, Changcheng Wu, Wenjie Tan, Haijuan Wang

“…Whole-genome sequencing was used to identify the strain’s sequence type and serotype as well as the presence of pathogenicity islands (PAIs). Results:. A patient with intraocular infection and bilateral deafness was diagnosed with an S. suis infection. …”
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Crimean-Congo haemorrhagic fever virus screening among African individuals in Spain: Lessons to learn by Helena Miriam Lorenzo Juanes, Amparo López-Bernus, Belen Vicente, Montserrat Alonso-Sardón, Beatriz Rodríguez Alonso, Josue Pendones Ulerio, Pedro Fernandez Soto, Juan Luis Muñoz Bellido, Antonio Muro, Moncef Belhassen-García

“…Although the risk is considered very low in these collectives, clinicians should be alert to the possibility of new CCHF cases, given the high pathogenicity of CCHFV and the risk of transmission.…”
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The Effect of Temperature over the Growth and Biofilm Formation of the Thermotolerant <i>Aspergillus flavus</i> by José Alejandro Hernández-Benítez, Brenda Nallely Santos-Ocampo, Daniel Genaro Rosas-Ramírez, Luis Antonio Bautista-Hernández, Víctor Manuel Bautista-de Lucio, Néstor Octavio Pérez, Aída Verónica Rodríguez-Tovar

“…Although its aflatoxin production and thermotolerance are well documented, its biofilm-forming ability has received less attention, despite being a key factor in the virulence of <i>A. flavus</i> as an opportunistic pathogen, which can significantly impact therapeutic outcomes. …”
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The role of morphological adaptability in Vibrio cholerae’s motility by Jun Xu, Keigo Abe, Toshio Kodama, Marzia Sultana, Denise Chac, Susan M. Markiewicz, Hideyuki Matsunami, Erika Kuba, Shiyu Tsunoda, Munirul Alam, Ana A. Weil, Shuichi Nakamura, Tetsu Yamashiro

“…ABSTRACT Vibrio cholerae, the causative agent of cholera, displays remarkable adaptability to diverse environmental conditions through morphological changes that enhance its pathogenicity and influence the global epidemiology of the disease. …”
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Regulation of ofloxacin resistance in Escherichia coli strains causing calf diarrhea by quorum-sensing acyl-homoserine lactone signaling molecules by Zi Wang, Zi Wang, Zi Wang, Miao Sun, Yongqiang Wang, Yongqiang Wang, Jinchuan Shi, Wei Gao, Dongxu Han, Fanjun Zeng, Sanren, Liyin Du, Liyin Du, Hongxia Ma, Kai Liu, Kai Liu, Kai Liu

“…Escherichia coli is a major pathogen responsible for calf diarrhea. However, it has developed resistance to many antimicrobial drugs for their inappropriate usage. …”
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Subconjunctival hemorrhage and modern treatment approaches by I.V. Vorobyeva, M.A. Frolov, A.M. Frolov, D.A. Trofimova, S. Shallah

“…Oxidative stress and free radicals are involved in corneal and lens damage and are pathogenic factors in glaucoma and diabetic retinopathy. …”
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