Publications by authors named "Yayoi Segura"
Article Synopsis
- * TRPV4 and TRPP2 channels interact in kidney cell physiology, and mutations in TRPV4 could affect kidney function, potentially worsening PKD severity.
- * PKD patients with TRPV4 mutations may face increased risks of requiring dialysis or kidney transplants compared to those without these mutations.
Article Synopsis
- LCAT deficiency includes two main forms: familial LCAT deficiency (FLD) and Fish Eye disease (FED), with a focus on the ethno-distribution of these conditions, especially in Latin America, and specific cases from Mexican-Mestizo individuals.
- A systematic review found 215 cases across 33 ethnic/racial groups, showing no link between genetic mutations and ethnicity, and differing average ages of diagnosis between the two forms: 41 for FLD and 55 for FED.
- The study highlights a higher risk of premature coronary heart disease in FED patients compared to those with FLD and recommends different management strategies for cardiovascular and renal disease in these conditions.
Objective: To describe a case of maturity-onset diabetes of the young (MODY) to highlight the importance of a correct diabetes diagnosis.
Methods: We describe a Mexican family misdiagnosed with T1D and T2D.
Results: A 36-year-old woman with diabetes and adverse outcomes during 2 pregnancies had been diagnosed with T2D 10 years ago.
Article Synopsis
- The study focused on young Mexican women with breast cancer (BC) to determine the prevalence of germline mutations in the TP53 gene, linked to Li-Fraumeni Syndrome (LFS).
- Out of 78 patients under 45 years old tested, 6.4% were found with pathogenic TP53 mutations, including three previously unreported missense mutations.
- The findings suggest that TP53 mutations may play a significant role in breast cancer cases among young women in Mexico, highlighting the need for further research on the clinical implications of these mutations.
Micronuclei and other biomarkers were evaluated in oral cells from 11- to 16-year-old girls living in a foster home in the central area of México City. Variables analyzed for possible association with these biomarkers include smoking habits, body mass index, metabolic polymorphisms for NAT1 and GSTM1 and whether the cells were obtained from the cheek or pharynx. The results indicated that individuals having the NAT1*10 homozygous genotype showed a significant increase in chromatin buds and binucleated cells.
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