Biopsies of veins of 20 boys with varicocele were studied morphologically. Three types of veins were observed. The first type was represented by veins with a wide lumen and the wall consisting of three layers of smooth muscle cells. The second morphological variant--veins of varying diameter of irregular shape and thin, frequently sclerosed wall. The third type were veins of a small diameter with well developed muscular layer. Immunohistochemical studies detected disturbances of vascular wall components suggesting the development of varicocele as a complex of congenital pathology with secondary alteration and destabilisation of compensatory processes.
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Appl Environ Microbiol
January 2025
Centre for Microbiology and Environmental Systems Science, Division of Microbial Ecology, University of Vienna, Vienna, Austria.
Polyunsaturated fatty acids (PUFAs) play a crucial role in aiding bacteria to adapt to extreme and stressful environments. While there is a well-established understanding of their production, accrual, and transfer within marine ecosystems, knowledge about terrestrial environments remains limited. Investigation of the intestinal microbiome of earthworms has illuminated the presence of PUFAs presumably of microbial origin, which contrasts with the surrounding soil.
View Article and Find Full Text PDFJ Med Virol
January 2025
Centro Internacional de Vacunas, Cali, Colombia.
A total of 5011 adult volunteers attending vaccination centers in different regions of Colombia were enrolled in a 1-year prospective observational cohort study to evaluate the immunogenicity and effectiveness of SARS-CoV-2-based vaccines as part of a National Vaccine Program established to contain the COVID-19 pandemic. Following informed consent, 5,011 participants underwent a sociodemographic survey and PCR testing to assess SARS-CoV-2 infection. Blood samples were collected, and serum fractions were obtained from a participant subsample (n = 3441) at six-time points to assess virus-specific IgG responses to the Spike protein, its Receptor Binding Domain, and the Nucleoprotein by ELISA.
View Article and Find Full Text PDFMol Genet Genomic Med
January 2025
Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, Tokyo, Japan.
Background: Sengers syndrome is an autosomal recessive mitochondrial DNA depletion syndrome characterized by hypertrophic cardiomyopathy, congenital cataracts, skeletal myopathy, exercise intolerance, and lactic acidosis. Dysfunction of acylglycerol kinase (AGK) is responsible for the disease, and several AGK gene variants have been reported.
Methods: We employed a comprehensive genomic analysis approach, including whole-genome sequencing and RNA sequencing, combined with various bioinformatics tools.
Neuropathol Appl Neurobiol
February 2025
Department of Neurology, Neuromuscular Diseases Unit, Hospital de la Santa Creu i Sant Pau, Institut de Recerca Sant Pau (IR Sant Pau), Barcelona, Spain.
Aims: Sarcoendoplasmic reticulum Ca-ATPase 2 (SERCA2), encoded by ATP2A2, is a key protein involved in intracellular Ca homeostasis. The SERCA2a isoform is predominantly expressed in cardiomyocytes and type I myofibres. Variants in this gene are related to Darier disease, an autosomal dominant dermatologic disorder, but have never been linked to myopathy.
View Article and Find Full Text PDFAchondroplasia, the most prevalent short-stature disorder, is caused by missense variants overactivating the fibroblast growth factor receptor 3 (FGFR3). As current surgical and pharmaceutical treatments only partially improve some disease features, we sought to explore a genetic approach. We show that an enhancer located 29 kb upstream of mouse Fgfr3 (-29E) is sufficient to confer a transgenic mouse reporter with a domain of expression in cartilage matching that of Fgfr3.
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