Case Report: Concurrent pathogenic variants in the gene as a cause of sporadic partial lipodystrophy.

Introduction: Inherited lipodystrophies are a group of rare diseases defined by severe reduction in adipose tissue mass and classified as generalized or partial. We report a non-familial (sporadic) case of partial lipodystrophy caused by a novel genetic mechanism involving closely linked pathogenic variants in the gene.

Methods: A female adult with partial lipodystrophy and her parents were evaluated for gene variants across the exome under different mendelian inheritance models (autosomal dominant, recessive, compound heterozygous, and X-linked) to find pathogenic variants.

Intention to Use Primary Healthcare Services among South-South Migrants.

(1) Background: To evaluate a model based on the right-to-health approach, considering the impact of associated factors on the future utilization of primary healthcare services among international migrants in Chile. (2) Methods: A cross-sectional design was employed to survey 499 South American migrants residing in Chile. Ad-hoc questionnaires were used to assess their experiences related to the right to health, perceived discrimination, income, education, length of residence, age, marital status, gender, migration status, among others.

Effects of urban-induced mutations on ecology, evolution and health.

Increasing evidence suggests that urbanization is associated with higher mutation rates, which can affect the health and evolution of organisms that inhabit cities. Elevated pollution levels in urban areas can induce DNA damage, leading to de novo mutations. Studies on mutations induced by urban pollution are most prevalent in humans and microorganisms, whereas studies of non-human eukaryotes are rare, even though increased mutation rates have the potential to affect organisms and their populations in contemporary time.

Genomic analysis in Chilean patients with suspected Rett syndrome: keep a broad differential diagnosis.

Rett syndrome (RTT, MIM #312750) is a rare genetic disorder that leads to developmental regression and severe disability and is caused by pathogenic variants in the gene. The diagnosis of RTT is based on clinical features and, depending on resources and access, on molecular confirmation. There is scarce information on molecular diagnosis from patients in Latin America, mostly due to limited availability and coverage of genomic testing.