Genetic and genomics in congenital heart disease: a clinical review.

Objective: Discuss evidence referring to the genetic role in congenital heart diseases, whether chromosomic alterations or monogenic diseases.

Data Source: LILACS, PubMed, MEDLINE, SciELO, Google Scholar, and references of the articles found. Review articles, case reports, book chapters, master's theses, and doctoral dissertations were included.

Posterior tibial tendinopathy associated with matrix metalloproteinase 13 promoter genotype and haplotype.

Background: Posterior tibial tendon (PTT) is particularly vulnerable and its insufficiency is recognized as the main cause of adult acquired flat foot. Some patients have a predisposition without a clinically recognized cause, suggesting that individual characteristics play an important role in tendinopathy. The present study investigated whether genetic variants in matrix metalloproteinases (MMPs) are associated with PTT dysfunction.

A prospective randomized study comparing two commercially available types of human embryo culture media: G1-PLUS™/G2-PLUS™ sequential medium (Vitrolife) and the GL BLAST™ sole medium (Ingamed).

Objective: To check the efficacy of two types of commercially available embryo culture medium: G1-PLUS™/G2-PLUS™ sequential (Vitrolife, Gothenburg, Sweden) and GV BLAST™ sole (Ingamed, Maringá, Brazil) with regards to fertilization, cleavage, blastocyst and pregnancy rates.

Methods: Prospective and randomized study conducted from March to July 2015, using the medical records of 60 patients submitted to Intracytoplasmic Sperm Injection techniques (ICSI). Data regarding the age of patients, together with fertilization, cleavage, blastocyst and pregnancy rates, were collected and compared in relation to the: G1-PLUS™/G2-PLUS™ sequential and GV BLAST™ sole mediums.

Partial 1q Duplications and Associated Phenotype.

Duplications of the long arm of chromosome 1 are rare. Distal duplications are the most common and have been reported as either pure trisomy or unbalanced translocations. The paucity of cases with pure distal 1q duplications has made it difficult to delineate a partial distal trisomy 1q syndrome.

MMP-1 promoter genotype and haplotype association with posterior tibial tendinopathy.

Purpose: Posterior tibial tendon (PTT) is particularly vulnerable and its insufficiency is recognized as the main cause of adult acquired flatfoot. Some patients have a predisposition without clinically recognized cause, suggesting that individual characteristics play an important role in tendinopathy. The objective of the present study is to investigate the association of -519 (rs1144393) matrix metalloproteinase-1 (MMP-1) polymorphism and the -1607 (rs1799750) and -519 MMP-1 haplotypes and risk of PTT dysfunction.

The Rst-Neph family of cell adhesion molecules in Gallus gallus.

The Rst-Neph family comprises an evolutionarily conserved group of single-pass transmembrane glycoproteins that belong to the immunoglobulin superfamily and participate in a wide range of cell adhesion and recognition events in both vertebrates and invertebrates. In mammals and fish, three Rst-Neph members, named Neph1-3, are present. Besides being widely expressed in the embryo, particularly in the developing nervous system, they also contribute to the formation and integrity of the urine filtration apparatus in the slit diaphragm of kidney glomerular podocytes, where they form homodimers, as well as heterodimers with Nephrin, another immunoglobulin-like cell adhesion molecule.