Fascioliasis is a plantborne and zoonotic parasitic disease caused by fasciolid liver flukes. Fasciola hepatica is the only fasciolid species described in the Americas. Human fascioliasis endemic areas are mainly located in high altitude areas of the Americas. Given the necessity to characterize F. hepatica populations involved, the phenotypic and genotypic features of fasciolid adults infecting cattle in the highland area of Toluca, State of Mexico, Mexico, were analyzed and compared to fasciolid materials from the Northern Bolivian Altiplano, representing the altiplanic transmission pattern in a hyperendemic scenario. A computer image analysis system (CIAS) was applied on the basis of standardized measurements. The aforementioned F. hepatica highland populations were compared to standard lowland natural populations of European origin (Spain and France) and F. gigantica of African origin (Burkina Faso). Liver-fluke size was studied by principal component analysis (PCA). Two phenotypic patterns could be distinguished in the F. hepatica material analyzed from the Americas: the valley pattern (Toluca, Mexico) and the altiplanic pattern (Northern Altiplano, Bolivia). PCA showed that the Altiplano population presented a large body size range with a pronouncedly lower minimum size. Mahalanobis distances demonstrated that American populations are very close to European populations. Genetic haplotyping was performed using the ribosomal DNA intergenic region, including ITS-1, 5.8S and ITS-2. The intergenic region was 951 bp-long, providing 2 combined haplotypes due to one mutation appearing in the ITS-2 sequence. Molecular results showed that Fh-1A and Fh-2A, the most frequent haplotypes of F. hepatica from southern Europe, are present in Mexican cattle. Nuclear rDNA biomarkers correlated with adult fluke phenotypic characteristics. Results showed that the Mexican population analyzed and European standard populations presented a phenotypic and genotypic homogeneity, suggesting an introduction with livestock transported during the early colonization period. Results are moreover analyzed in terms of altitude and permanent/seasonal transmission characteristics.
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http://dx.doi.org/10.1016/j.meegid.2018.06.032 | DOI Listing |
Genome-wide association studies (GWAS) have identified genetic variants robustly associated with asthma. A potential near-term clinical application is to calculate polygenic risk score (PRS) to improve disease risk prediction. The value of PRS, as part of numerous multi-source variables used to define asthma, remains unclear.
View Article and Find Full Text PDFPediatr Nephrol
January 2025
Department of Nephrology, Wuhan Children's Hospital (Wuhan Maternal and Child Healthcare Center), Tongji Medical College, Huazhong University of Science & Technology, Wuhan, China.
Background: Steroid-resistant nephrotic syndrome (SRNS) is insensitive to steroid therapy and overwhelmingly progresses to kidney failure (KF), the known pathogenic genes of which include key subunits of the nuclear pore complex (NPC), a less-recognized contributor to glomerular podocyte injury.
Methods: After analyzing their clinical characterizations and obtaining parental consent, whole-exome sequencing (WES) was performed on patients with SRNS. Several nucleoporin (NUP) biallelic pathogenic variants were identified and further analyzed by cDNA-PCR sequencing from white cells of peripheral blood, minigene assay, immunohistochemical (IHC) staining, and electron microscopy (EM) ultrastructure observation of kidney biopsy, as well as multiple in silico prediction tools, including 3D protein modeling.
Neurocase
January 2025
Department of Ophthalmology, Affiliated Hospital of Guizhou Medical University, Guiyang, P.R. China.
Background: -related disorders are autosomal recessive genetic disorders characterized by movement disorders primarily including ataxia and spasticity, mainly accompanying developmental delay, seizures, and neuroimaging abnormalities. -related spectrum disorder (VSD) may better reflect the characteristics of the disease. So far, the relationship of genotype and phenotype of VSD has not been established.
View Article and Find Full Text PDFJ Appl Microbiol
January 2025
Department of Population Health, College of Veterinary Medicine, 501 D.W. Brooks Dr., University of Georgia, Athens, GA 30602.
Aims: To characterize Escherichia coli O25 ST131 (O25-ST131) isolated from Georgia poultry, - a "global high-risk" clonal strain.
Methods And Results: Using multiplex PCR to detect target genes in 98 isolates of avian pathogenic E. coli (APEC) O25 recovered from avians diagnosed with colibacillosis (n=87) and healthy chicks (n=11) in Georgia, USA.
Poult Sci
January 2025
College of Animal Science and Technology, Henan Agricultural University, Zhengzhou 450046, China; International Joint Research Laboratory for Poultry Breeding of Henan, Zhengzhou, 450046, China. Electronic address:
The transglutaminase (TGMs) family plays a crucial role in regulating mammalian reproduction, yet its impact on poultry reproductive traits has not been extensively studied. In this study, we identified eight members of the TGMs family in chickens and examined the contributions of genetic variations of coagulation factor XIII A chain (F13A1), transglutaminase 4 (TGM4), and LOC101749664 to selective breeding in commercial layers through genetic variation response pattern analysis. Transcriptome data from various tissues of high- and low-egg-yielding Gushi chickens revealed significant positive correlations between the mRNA expression levels of TGM4 and F13A1 genes and egg production (P < 0.
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