Publications by authors named "Segura Kato Yayoi"

Introduction: Serine proteases play a critical role during SARS-CoV-2 infection. Therefore, polymorphisms of transmembrane protease serine 2 () and serpine family E member 1 () could help to elucidate the contribution of variability to COVID-19 outcomes.

Methods: To evaluate the genetic variants of the genes previously associated with COVID-19 outcomes, we performed a cross-sectional study in which 1536 SARS-CoV-2-positive participants were enrolled.

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Article Synopsis
  • The study investigates the role of TLR7 and MyD88 gene polymorphisms in the severity of COVID-19 among unvaccinated individuals, analyzing a population of 618 patients.
  • A significant association was found between specific genetic variations (rs3853839 for TLR7 and rs7744 for MyD88) and worse clinical outcomes, with specific genotypes linked to critical and severe cases.
  • The findings suggest that these genetic markers could help predict COVID-19 severity and are associated with immune response factors like D-dimer and IFN-α concentrations.
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Severe insulin resistance can be caused by rare genetic defects in the insulin receptor known as insulin receptoropathies. These genetic defects cause a wide spectrum of clinical manifestations ranging from mild syndromes to lethal disorders. Among those is the HAIR-AN an extreme subtype of polycystic ovary syndrome (PCOS).

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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.

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Background: Familial hypertriglyceridemia (FHTG) is a partially characterized primary dyslipidemia which is frequently confused with other forms hypertriglyceridemia. The aim of this work is to search for specific features that can help physicians recognize this disease.

Methods: This study included 84 FHTG cases, 728 subjects with common mild-to-moderate hypertriglyceridemia (CHTG) and 609 normotriglyceridemic controls.

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Dyslipidemias are common risk factors for the development of chronic disorders including type 2 diabetes (T2D). Over 100 associated have been identified but few reports have evaluated the population attributable fraction captured by them in population-based nationwide surveys. Therefore, we determined the population contribution of a set of known genetic risk variants to the development of dyslipidemias and T2D in Mexico.

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Article Synopsis
  • Type 2 diabetes (T2D) affects over 415 million people globally, and genetic analysis of 8,227 T2D individuals and 12,966 non-T2D individuals of Latino descent identified a novel variant linked to a ~20% reduced risk for the disease.
  • This genetic variant, prevalent in the Mexican population but rare in Europe, inhibits splicing between specific regions of a gene and correlates with decreased expression of a particular protein isoform (isoform 2) associated with T2D risk.
  • Findings indicate that lowering isoform 2 expression could be a promising therapeutic approach for T2D across broader populations without significant adverse health impacts.
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The burden caused by familial hypercholesterolemia (FH) varies among countries and ethnic groups. The prevalence and characteristics of FH in Latin American (LA) countries is largely unknown. We present a systematic review (following the PRISMA statement) of FH in LA countries.

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The expression and biological role of actin during the Trypanosoma cruzi life cycle remains largely unknown. Polyclonal antibodies against a recombinant T. cruzi actin protein were used to confirm its expression in epimastigotes, trypomastigotes, and amastigotes.

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Context: Maturity-onset diabetes of the young (MODY) is a monogenic form of diabetes mellitus characterized by autosomal dominant inheritance, early age of onset and a primary insulin secretion defect. Certain MODY gene sequence variants may be involved in polygenic forms of type 2 diabetes.

Objective: We assessed the contribution of MODY genes to the etiology of type 2 early-onset diabetes in 23 Mexican families, including five with apparently autosomal dominant inheritance.

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