Publications by authors named "Juan Jose Morales Suarez"
Mol Genet Genomic Med
December 2024
Article Synopsis
- Fabry disease (FD) is a rare genetic disorder caused by mutations in the GLA gene, resulting in various symptoms, and this study analyzed the characteristics of 52 Mexican FD patients.*
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- Common symptoms included acroparesthesias, hypohidrosis, heat intolerance, and proteinuria, with more severe renal and neurological issues observed in males; additional findings included cardiac problems and specific skin manifestations.*
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- The study identified a novel genetic variant associated with an atypical FD phenotype that could resemble Multiple Sclerosis, highlighting the need for renal biopsies for accurate diagnosis when FD is suspected.*
Birth Defects Res
July 2019
Article Synopsis
- OEIS is a rare malformation complex with a prevalence of 1 in 99,585 live births, characterized by conditions like omphalocele and bladder exstrophy; its cause is largely unknown and mostly sporadic.
- A multihospital study in Mexico analyzed 12 OEIS cases from over 1.1 million births, aiming to identify possible risk factors and demographic characteristics.
- Results highlighted first-trimester influenza infection in mothers as a potential risk factor, with higher prevalence of severe defects noted in twin births, suggesting links between OEIS and early developmental disturbances.
