[Rett Syndrome: an updated view].

Rett syndrome (RS) is a rare neurodevelopmental disorder first described in 1966. It is characterized by the arrest and regression of intellectual, motor, and communicative developmental milestones, followed by the appearance of hand stereotypies after an apparently normal development period. Pathogenic variants in the MECP2 gene have been identified as a cause in most cases.

Association between single-nucleotide polymorphisms in miRNA and breast cancer risk: an updated review.

Breast cancer (BC), a heterogeneous, aggressive illness with high mortality, is essentially a genomic disease. While the high-penetrance genes BRCA1 and BRCA2 play important roles in tumorigenesis, moderate- and low-penetrance genes are also involved. Single-nucleotide polymorphisms (SNPs) in microRNA (miRNA) genes have recently been identified as BC risk factors.

Germline Variants in Driver Genes of Breast Cancer and Their Association with Familial and Early-Onset Breast Cancer Risk in a Chilean Population.

The genetic variations responsible for tumorigenesis are called driver mutations. In breast cancer (BC), two studies have demonstrated that germline mutations in driver genes linked to sporadic tumors may also influence BC risk. The present study evaluates the association between SNPs and SNP-SNP interaction in driver genes (rs10497520), (rs2242442), (rs11168827), and (rs702688 and rs702689) with BC risk in -negative Chilean families.

[Recurrence of goodpasture syndrome with negative antiglomerular basement antibodies. Report of one case].

Goodpasture Syndrome is described as a single episode disease entity. It is diagnosed with the demonstration of antiglomerular basement (anti-GBM) antibodies in plasma or renal tissue. Although the recurrence of anti-GBM disease is rare, it has been reported in up to 3% of cases.