Results of Selective Biochemical Screening for Lysosomal Acid Lipase Deficiency and Sequencing of the <i>LIPA</i> Gene in the Risk Group Patients by S. V. Shtykalova, A. A. Egorova, O. S. Glotov, A. V. Kiselev, I. Yu. Kogan

“…For 17 patients, search for mutations in the LIPA gene was carried out using NGS. In 9 patients, pathogenic genetic variants were found that led to decrease in LAL activity and the manifestation of clinical symptoms. …”
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Genotype-phenotype correlations for 17 Chinese families with inherited retinal dystrophies due to homozygous variants by Xue Fan, Zhen Li, Lingzhi Sha, Xunlun Sheng, Weining Rong

“…The results of the study indicate that more than 80% of persons with homozygous variant originated from non-consanguineous families, emphasizing the significance of genetic screening for individuals who lack a family history of consanguineous marriage and no obvious clinical phenotypes, but who may carry genetic pathogenic variants for genetic diseases. Furthermore, by analyzing the genotypes and clinical phenotypes of IRD patients from these 17 Chinese families, we have expanded the spectrum of variants in known pathogenic genes for IRDs and the range of clinical phenotypes associated with variants in these genes. …”
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Global prevalence of platelet-type von Willebrand disease by Omid Seidizadeh, Andrea Cairo, Maha Othman, Flora Peyvandi

“…Considering these 4 known pathogenic variants, we estimated a global PT-VWD prevalence of 136 cases/106. …”
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Glutamine-glutamate centered metabolism as the potential therapeutic target against Japanese encephalitis virus-induced encephalitis by Mengyuan Li, Hang Yuan, Xiaofei Yang, Yingfeng Lei, Jianqi Lian

“…Therefore, uncovering and manipulating the metabolic reprogramming that underlies viral infection will help elucidate the pathogenic mechanisms and develop novel therapeutic strategies. …”
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Detection and Phylogenetic Characterization of Influenza D in Swedish Cattle by Ignacio Alvarez, Fereshteh Banihashem, Annie Persson, Emma Hurri, Hyeyoung Kim, Mariette Ducatez, Erika Geijer, Jean-Francois Valarcher, Sara Hägglund, Siamak Zohari

“…The samples were screened for IDV and other respiratory pathogens using real-time reverse transcription quantitative PCR (rRT-qPCR). …”
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Targeting NF-kappaB-inducing kinase shapes B-cell homeostasis in myasthenia gravis by Xiaoyu Huang, Zhouao Zhang, Zhouyi Wang, Tiancheng Luo, Mingjin Yang, Xinyan Guo, Xue Du, Tianyu Ma, Yong Zhang

“…Intraperitoneal injection of B022 ameliorated the severity of EAMG rats, and reduced proportion of pathogenic B and T cell subsets, antibody levels and postsynaptic membrane damage. …”
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In Vitro Mechanism of Action of Acanthospermum hispidum in Trypanosoma brucei by Aboagye Kwarteng Dofuor, Temitayo Samson Ademolue, Karen Nana Akua Kuampah, Frederick Ayertey, Theresa Manful Gwira

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Immunomorphologic Manifestations in Mice Liver Infected with Influenza A/H5N1, A/Goose/Krasnoozerskoye/627/05 Strain by Oxana V. Potapova, Tatyana V. Sharkova, Vyacheslav A. Shkurupiy, Alexander M. Shestopalov

“…Highly pathogenic avian influenza H5N1 (HPAI H5N1) viruses can infect mammals, including humans, causing severe systemic disease with the inhibition of the immune system and a high mortality rate. …”
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Nucleic acid amplification-based detection methods for SARS-CoV-2 variant detection: research progress review by Xia WU, Xiao ZHANG, Jiayi HAN, Fangxiao XING, Bixiong YE

“…SARS-CoV-2 is prone to mutation, resulting in variants with increased transmissibility, pathogenicity, and immune escape capabilities, posing a significant global threat. …”
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Mild Late-Onset Sensory Neuropathy Associated with Heterozygous Missense GDAP1 Variants by Nivedita U. Jerath

“…This study presents the clinical and electrophysiological findings of four subjects with a pathogenic heterozygous GDAP1 variant causing Charcot–Marie–Tooth disease 2K (CMT2K) and one additional subject with an uncertain GDAP1 variant and clinical findings of CMT 2K. …”
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Isolated Avulsion of the Common Hepatic Duct from Blunt Abdominal Trauma by Victor W. Wong, Arvin Gee, Paul Hansen, Andrew Michaels

“…Isolated extrahepatic biliary tract injury following blunt abdominal trauma is rare. The underlying pathogenic mechanisms remain obscure, but include shear and/or compression forces on the biliary system. …”
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Discussion of irritable bowel syndrome issue and functional constipations in reports of the 21st United European Gastroenterological Week (Berlin, 2013) by A. A. Sheptulin, M. A. Vizye-Khripunova

“…Of etiological and pathogenic factors of IBS the major attention is given now to hereditary factors, past intestinal infections, bile acids absorbtion disorders, changes of innate immune system. …”
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Reclaimed Water Use in the Landscape: What's in Reclaimed Water and Where Does It Go? by Gurpal S. Toor, Mary Lusk

“…Reclaimed water is former wastewater from households, schools, offices, hospitals, and commercial and industrial facilities that has been disinfected and treated to remove certain impurities such as nutrients and pathogens. After flowing out of wastewater treatment plants, reclaimed water is piped back to communities for reuse in numerous domestic, industrial, and agricultural applications. …”
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Antibiotic Therapy for Crohn’s Disease: A Review by Simon Lal, A Hillary Steinhart

“…Increasing evidence suggests that gut bacteria play a pathogenic role in Crohn’s disease (CD), providing a rationale for the use of antibiotics in the primary treatment of the disease. …”
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Potential Roles of Exosomal lncRNAs in the Intestinal Mucosal Immune Barrier by Shanshan Chen, Ruonan He, Beihui He, Li Xu, Shuo Zhang

“…The intestinal mucosal immune barrier protects the host from the invasion of foreign pathogenic microorganisms. Immune cells and cytokines in the intestinal mucosa maintain local and systemic homeostasis by participating in natural and adaptive immunity. …”
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Botryosphaeria Stem Blight on Southern Highbush Blueberry in Florida by Norma C. Flor, Douglas A. Phillips, Philip F. Harmon

“…Biotic or abiotic stresses from a variety of sources can make plants more susceptible to infection by stem blight pathogens. This new 5-page publication is intended for Florida blueberry growers to use as a guide in the identification and management of Botryosphaeria stem blight on southern highbush blueberry. …”
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What is Scirrhia? by P.W. Crous, A.W. Minnis, O.L. Pereira, A.C. Alfenas, R.F. Alfenas, A.Y. Rossman, J.Z. Groenewald

“…Given the extremely slow growth rate and difficulty in obtaining cultures of S. brasiliensis on various growth media, it appears that Scirrhia represents a genus of potentially obligate plant pathogens within Mycosphaerellaceae.…”
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New directions in the fight against antibiotic resistance by Mihai Folescu, Eugenia Dumitrescu, Florin Muselin, Alexandru Octavian Doma, Daiana Ionela Cocoș, Larisa Ardelean, Romeo Teodor Cristina

“…However, the growing spread of resistance reduces their effectiveness, making the discovery of new drugs crucial in the ongoing battle against human pathogens. Antibiotic resistance represents one of the greatest challenges of modern medicine, having a significant impact on the treatment of bacterial infections. …”
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Yellow Fever: It worth a review in the current epidemiological context by Miguel Ángel Serra Valdés

“…An updated review was realized about its ethio- pathogenic, clinical manifestations, epidemiology, diagnosis, treatment and prevention. …”
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A Case of Recurrent Erysipelas Caused by Streptococcus mitis Group by David Nygren, Bo Nilson, Magnus Rasmussen

“…The aetiology of erysipelas remains poorly defined though beta-haemolytic streptococci are considered as the main causative pathogens. We describe a case of a 70-year-old woman with recurrent erysipelas in her left arm due to infection with streptococci of the mitis group. …”
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