Variants of the Gene in Mexican Patients with Noonan Syndrome.

Noonan syndrome (NS) is a genetic multisystem disease characterized by distinctive facial features, short stature, chest deformity, and congenital heart defects. NS is caused by gene variants of the RAS/MAPK pathway, with accounting for about 50% of cases. This study aimed to identify pathogenic variants in Mexican patients with NS to enhance our understanding of the disease in this population.

High Prevalence of Familial Hypercholesterolemia Due to the Founder Effect of the LDLR c.2271del Variant in Communities of Oaxaca, Mexico.

Introduction: In Mexico, familial hypercholesterolemia (FH) is underdiagnosed, but population screening in small communities where at least one homozygous patient has already been detected results in a useful and inexpensive approach to reduce this problem. Considering that we previously reported nine homozygous cases from the state of Oaxaca, we decided to perform a population screening to identify patients with FH and to describe both their biochemical and genetic characteristics.

Methods: LDL cholesterol (LDLc) was quantified in 2,093 individuals from 11 communities in Oaxaca; either adults with LDLc levels ≥170 mg/dL or children with LDLc ≥130 mg/dL were classified as suggestive of FH and therefore included in the genetic study.

Multidisciplinary Workup for Stillbirth at a Tertiary-Care Hospital in Northeast Mexico: Findings, Challenges and Perspectives.

Objectives: Stillbirth is an important health problem, and in Mexico, only half of the stillbirths have an explainable cause. The aim of this study was to implement a multidisciplinary workup to identify the etiology and potential risk factors for stillbirth at the Hospital Universitario "Dr. José Eleuterio González".