Association between genetic polymorphisms and osteoarthritis development. Overview of systematic reviews.

Objective: To identify, critically evaluate and synthesize the evidence obtained from systematic reviews on the association between genetic polymorphisms and osteoarthritis (OA) development.

Methods: Considering gene polymorphisms associated with OA susceptibility (risk or protection), a comprehensive search was conducted in the following databases, without date or language restrictions: MEDLINE, via Pubmed; Embase, via Elsevier; Cochrane Database of Systematic Reviews, via Wiley; Biblioteca Virtual em Saúde. Gray literature was also searched through the OpenGrey database.

A novel variant in the COX15 gene causing a fatal infantile cardioencephalomyopathy: A case report with clinical and molecular review.

The cytochrome c-oxidase (COX) enzyme, also known as mitochondrial complex IV (MT-C4D), is a transmembrane protein complex found in mitochondria. COX deficiency is one of the most frequent causes of electron transport chain defects in humans. Therefore, high energy demand organs and tissues are affected in patients with mutations in the COX15 gene, with variable phenotypic expressiveness.

Gomez-López-Hernández syndrome: A case report with clinical and molecular evaluation and literature review.

Gomez-López-Hernández syndrome (GLHS) is characterized by rhombencephalosynapsis (RES), alopecia, trigeminal anesthesia and a distinctive phenotype, including brachyturricephaly. It has been suggested that GLHS should be considered as part of the spectrum of RES-associated conditions that include alopecia, trigeminal anesthesia, and craniofacial anomalies, rather than a distinct entity. To the best of our knowledge, 57 patients with GLHS have been described.

[Congenital Anomalies Detected at Birth in Newborns of Adolescent Women].

Introduction: To analyze the prevalence of congenital anomalies detected at birth among children of pregnant adolescents, emphasizing the most common types and the time of diagnosis.

Material And Methods: Retrospective study of type census, in which were analyzed in all newborns, living or dead, weighing more than 500 g of women who gave birth at Hospital São Paulo in a period of six years. The fetuses bearing anomalies were identified prenatally or through postnatal physical examination period, according to the criteria of the Latin American Collaborative Study of Congenital Malformations.

[Use of the Internet to report congenital malformations on birth certificates at four public maternity hospitals in the city of São Paulo, Brazil].

The aim of this study was to improve the completion of item 34 on birth certificates at four maternity hospitals in the city of São Paulo, Brazil, in the year 2008. The database of the Municipal Health Department's Information System on Live Births was used to monitor trends in reporting birth defects. An electronic web-based medical record was used to refer indeterminate cases to a leading medical genetics referral center.