BACKGROUND About 6 to 14% of melanoma cases occur in a familial setting. Germline mutations in CDKN2A are detected in 20 to 40% of melanoma families. OBJECTIVE To characterise the clinical and histopathological characteristics of familial melanoma thus providing more information to clinicians and contribute to the understanding of the genetic-environment interplay in the pathogenesis of melan...

PURPOSE We describe the differences and similarities in clinical characteristics and phenotype of familial and sporadic patients with age-related macular degeneration (AMD). METHODS We evaluated data of 1828 AMD patients and 1715 controls enrolled in the European Genetic Database. All subjects underwent ophthalmologic examination, including visual acuity testing and fundus photography. Images...

This exploratory study examined the risk and protective factors of youth offenders and their relation to recidivism. The sample consisted of 76 male and female juvenile probationers within a large metropolitan area. Archival records on probationers provided data on prior offenses, personal characteristics, familial conditions, drug use, peer selection, school performance, role models, and activ...

Objective: To investigate the presence of maternal and paternal history of type 2 diabetes mellitus (DM) in relatives of 644 type 2 diabetic patients from Southern Brazil, and also to evaluate its influence on the clinical characteristics of this disease. Patients and Methods: Familial history of type 2 DM was investigated by a questionnaire. The maternal and paternal history was investigated o...

An 8-year-old boy with familial hypokalemic periodic paralysis is described. Twenty eight cases of periodic paralysis under 15 years of age were collected from the Japanese literature and reviewed. Serum potassium concentrations during an attack of paralysis were recorded in 27 cases including our case: 20 cases were hypokalemic, 4 were normokalemic and 3 were hyperkalemic. Hypokalemic periodic...

OBJECTIVE To investigate the presence of maternal and paternal history of type 2 diabetes mellitus (DM) in relatives of 644 type 2 diabetic patients from Southern Brazil, and also to evaluate its influence on the clinical characteristics of this disease. PATIENTS AND METHODS Familial history of type 2 DM was investigated by a questionnaire. The maternal and paternal history was investigated o...

Cherubism is a rare familial disease that occurs between the ages two and five years and regresses after puberty. Most of the cherubism cases show familial history, but there are some cases without familial histories of disorder. A two-year-old boy with a painless symmetrical progressive swelling of the jaws had visited maxillofacial radiology department. Panoramic radiograph revealed well-defi...