Publications by authors named "J M Politei"
Article Synopsis
- Obesity is a complex disorder influenced by a mix of genetics and environmental factors, with several gene variants linked to food intake and leptin's effects in the brain.
- Advances in next-generation sequencing have revealed a higher incidence of genetic factors associated with obesity than previously thought.
- Early diagnosis of both syndromic and non-syndromic monogenic obesity is crucial to prevent the use of ineffective treatments like surgery or non-specific medications.
Introduction: Monogenic obesity is caused by a unique genetic dysfunction, often appears in childhood, and can be accompanied by neuroendocrine, skeletal, developmental, and behavioral disorders, among other manifestations. Some variants in the SH2B1 gene have been suggested as strong candidates for the development of autosomal dominant obesity.
Case Presentation: We describe here the clinical response after 1 year of setmelanotide treatment in a 22-year-old patient with an SH2B1 variant.
Article Synopsis
- A study analyzed data from 83 patients with Fabry disease who switched from agalsidase beta to migalastat, focusing on their kidney function, protein levels in urine, and other heart-related measurements.
- Results showed that kidney function (eGFR) declined more sharply after the switch, with significant differences between classic and late-onset patients.
- The study highlights variability in patient outcomes post-switch, suggesting the need for ongoing monitoring to manage their health effectively.
Baseline Characteristics of Fabry Disease "Amenable" Migalastat Patients in Argentinian Cohort.
Glob Health Epidemiol Genom
February 2024
Fabry disease (FD) is a multisystem lysosomal storage disorder induced by genetic variants in the alpha-galactosidase A (GalA) gene. Some FD patients have GLA variants with a reduction in overall GalA enzymatic activity due to mutated proteins with reduced stability, caused by protein misfolding and premature degradation, but the GalA catalytic activity remains conserved ("amenable" genetic variants). To correct this misfolding and to prevent premature degradation, migalastat, a small iminosugar molecule was developed.
View Article and Find Full Text PDFObjective: Fabry disease is a progressive disorder caused by deficiency of the α-galactosidase A enzyme (α-Gal A), leading to multisystemic organ damage with heterogenous clinical presentation. The addition of the oral chaperone therapy migalastat to the available treatment options for Fabry disease is not yet universally reflected in all treatment guidelines. These consensus recommendations are intended to provide guidance for the treatment and monitoring of patients with Fabry disease receiving migalastat.
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