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[Genetic analysis of a Chinese pedigree affected with Charcot-Marie-Tooth type 2A2A due to a missense variant of MFN2 gene].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
January 2025
Prenatal Diagnosis Center, Xuzhou Central Hospital, Xuzhou Clinical College of Xuzhou Medical University, Xuzhou, Jiangsu 221009, China.
Objective: To explore the genotype-phenotype correlation in a Charcot-Marie-Tooth type 2A2A (CMT2A2A) pedigree and to provide genetic counseling for its subsequent pregnancies.
Methods: A Chinese pedigree presenting with "lower limb muscle atrophy and movement disorders" at the Prenatal Diagnosis Center of Xuzhou Central Hospital between January and August 2024 was selected as the study subject. Relevant clinical data were collected from the pedigree members.
[Study of the feasibility of polar body transfer combined with preimplantation genetic testing for blocking the intergenerational transmission of mitochondrial genetic diseases].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
January 2025
Reproductive Medicine Center, Department of Obstetrics and Gynecology, the First Affiliated Hospital of Anhui Medical University, Hefei, Anhui 230022, China.
Objective: To assess the feasibility of first polar body transfer (PB1T) combined with preimplantation mitochondrial genetic testing for blocking the transmission of a pathogenic mitochondrial DNA 8993T>G mutation.
Methods: A Chinese family affected with Leigh syndrome which had attended the Reproductive Medicine Centre of the First Affiliated Hospital of Anhui Medical University in September 2021 was selected as the study subject. Controlled ovarian hyperstimulation was carried out for the proband after completing the detection of the mitochondrial DNA 8993T>G mutation load among the pedigree members.
Cadmium exposure induces inflammation, oxidative stress and DNA damage in HUVEC and promotes THP-1 adhesion: a possible mechanism on the formation of Atherosclerotic plaque.
Toxicology
January 2025
School of Life Science, Liaoning University, Shenyang, 110036, China. Electronic address:
Observational studies have shown that cadmium exposure increases the risk of cardiovascular disease, but the underlying mechanism is still unclear. Atherosclerotic plaque can cause vascular obstruction, which is important for the death from cardiovascular disease. Cell damage and monocyte adhesion are two early events in atherosclerotic plaque formation that can be induced by cadmium exposure, but the mechanism remains to be determined.
View Article and Find Full Text PDFPHYLOGENETIC ANALYSIS OF AEDES AEGYPTI IN TAIF AND JEDDAH GOVERNORATES, SAUDI ARABIA.
J Am Mosq Control Assoc
January 2025
Department of Biological Sciences, Faculty of Science, King Abdulaziz University, Jeddah, Saudi Arabia.
With their diverse species, mosquitoes are known to transmit the causal agents of diseases such as malaria, dengue, and yellow fever. Their high adaptability, attraction to humans, and variable adult behaviors make them a significant health concern. The focus on Aedes aegypti is significant for reducing vector-human contacts, monitoring insecticide resistance, and developing innovative vector management strategies.
View Article and Find Full Text PDFFirst assessment of the prevalence of haemosporidian infections in Accipitriformes raptors in Greece.
Parasitol Res
January 2025
School of Veterinary Medicine, Faculty of Health Sciences, Aristotle University of Thessaloniki, 54124, Thessaloniki, Greece.
Haemosporidians, a group of vector-borne parasites that parasitize the blood cells and internal organs of various animal species, are reported to cause severe pathology in raptors. Species belonging to the genera Plasmodium, Haemoproteus and Leucocytozoon are the ones of greatest wildlife importance. The common buzzard (Buteo buteo) and the Eurasian sparrowhawk (Accipiter nisus) are the most numerous raptor species in Europe.
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