São Paulo medical journal = Revista paulista de medicina
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Ellis-van Creveld (EVC) syndrome is a rare autosomal recessive disease characterized by disproportionate short stature, narrow thorax, postaxial polydactyly, nail and tooth abnormalities and congenital heart disease. ⋯ The patient was a 22-year-old Caucasian man, the third child of consanguineous parents. He received the diagnosis of insulin-dependent diabetes mellitus (DM) at 16 years of age, and around one year later, he underwent surgery to correct a partial atrioventricular septal defect. Upon physical examination, at 22 years of age, he presented stature of 145.5 cm (P3), weight of 49 kg (P3), head circumference of 54 cm (P2-50), high palate, absence of one of the lower lateral incisor teeth, narrow shoulders, narrowing of the upper thorax, scoliosis, rhizomelic shortening of the upper limbs, brachydactyly, postaxial polydactyly and clinodactyly of the second and third fingers. The lower limbs showed rhizomelic shortening with significant genu valgum (knock-knee deformity), small feet with postaxial polydactyly, syndactyly between the second and third toes and hallux valgus. Multiple melanocytic nevi were evident on the face, thorax and limbs. At that time, he was using neutral protamine Hagedorn (NPH) insulin, with poorly controlled DM. The clinical findings presented led to the diagnosis of EVC syndrome. Only one case of this syndrome has been described with DM so far. Attention is drawn to the fact that the genes associated with this syndrome are located close to those of the Wolfram syndrome, a condition that leads to early-onset diabetes.
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Excessive gestational weight gain is related to many complications (both maternal and fetal), such as macrosomia. The most common complications in macrosomic fetuses include: increased risk of intrauterine death, need for intensive care, fractures, neonatal hyperbilirubinemia, paralysis of the brachial plexus and obesity in childhood and adulthood. The aim of this study was to evaluate the association between gestational and fetal weight gain and the incidence of macrosomia in two maternity hospitals. ⋯ Excessive maternal weight gain was associated with increased fetal birth weight and incidence of macrosomia.
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Injuries are an important cause of morbidity during adolescence, but can be avoided through learning about some of their characteristics. This study aimed to identify the most frequent injuries among adolescents attended at an emergency service. ⋯ Although the injuries were of low severity, preventive attitudes need to be incorporated in order to reduce the risks and provide greater safety for adolescents.
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Over recent years, the terms race and ethnicity have been used to ascertain inequities in public health. However, this use depends on the quality of the data available. This study aimed to investigate the description of color/race in Brazilian scientific journals within the field of biomedicine. ⋯ The absence of descriptions of parameters for defining race, as well as the use of vague and ambiguous terms, may hamper and even prevent comparisons between human groups and the use of these data to ascertain inequities in healthcare.