Publications by authors named "B Jimenez-Perez"
Article Synopsis
- Rare diseases (RDs) are uncommon, often genetic conditions that can take a long time (5-10 years) and multiple specialist evaluations to diagnose due to a lack of standard definitions.
- A study in Puebla, Mexico, reviewed 798 patient records from a Medical Genetics Service and found a RD prevalence of 27%, identifying 118 different RDs, while 11 out of 20 officially recognized RDs in Mexico were detected in 35 patients, resulting in a 4.3% prevalence.
- The findings highlight that the classification of RDs can vary, and recent changes in Mexico's recognition of these diseases could improve resources and support for affected individuals.
Case report on activated PI3K-delta syndrome.
Bol Med Hosp Infant Mex
September 2024
Background: Activated phosphoinositide 3-kinase delta syndrome (APDS) [OMIM 615513] is an inborn error of immunity with autosomal dominant inheritance caused by a pathogenic variant in the PIK3CD gene. The prevalence ratio of APDS is < 1: 1,000,000 newborns. The main clinical features of APDS are sinopulmonary infections, benign lymphoproliferation, autoinflammatory disease, and a major risk of lymphoid neoplasms.
View Article and Find Full Text PDFSalt-tolerance mechanisms in quinoa: Is glycinebetaine the missing piece of the puzzle?
Plant Physiol Biochem
January 2024
Salinization of arable land has been progressively increasing, which, along with the effects of climate change, poses a serious risk to food production. Quinoa is a halophyte species that grows and is productive in highly saline soils. This study addresses the mechanisms of response and adaptation to high salinity.
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