RESUMO
Defects of the middle line are an heterogeneous group of congenital malformations due to commune pathogenetic mechanisms. We have made a case-control study about 150 newborns, who have at least 1 defect of the middle line. Results prove an excess of males between the cases, due mostly to hypospadias. We haven't found families with defects of the middle line with x-linked manner of hereditary transmission. We haven't found any particular risk present in cases and not in controls. We haven't found any case with 2 or more middle line defects.
Assuntos
Anormalidades Congênitas/genética , Estudos de Casos e Controles , Fenda Labial/genética , Fissura Palatina/genética , Atresia Esofágica/genética , Fístula Esofágica/genética , Feminino , Idade Gestacional , Humanos , Hipospadia/genética , Recém-Nascido , Masculino , Fatores Sexuais , Traqueia/anormalidadesRESUMO
Metoclopramide is an antiemetic drug; the effects on CNS (acute dystonic reaction, tardive dyskinesia, parkinsonism) occur in only 1 of 500 patients treated. Acute dystonic reactions are not apparently dose-dependent and suggest individual sensitivity to the drug (idiosyncrasia). We report 4 cases in 2 families (grandmother-grandchild; brother-sister). We feel that, if there is a case of dystonic reaction to metoclopramide, this drug should not be administered to other members of the same family.
Assuntos
Distonia/induzido quimicamente , Distonia/genética , Metoclopramida/efeitos adversos , Adolescente , Criança , Feminino , Humanos , Masculino , Pessoa de Meia-IdadeRESUMO
The incidence of coeliac disease (CD) was calculated on 304 patients under eighteen who were born in the city of Turin and its province in the years 1975-1989; the prevalence on 494 patients who live in the Piedmont Region. The mean crude yearly incidence was 0.511/1000 (1:1957 live birth). It varied from year to year, reaching minimum values in the years 1984-1987. In a contemporary epidemiological study, the mean crude incidence of CD in Italy was 1.2/1000 (1:833 live birth) twice the rate observed in Turin. The prevalence of paediatric CD in Piedmont was 113 per million inhabitants. Since CD has a normal life expectancy, its prevalence may be expected to increase. In the provinces of Novara, Alessandria and Asti CD prevalence was lower than in the others. Mean age at onset was 6 mos in 1975 and increased to 34 mos in 1989. Mean age at diagnosis was 15 mos in 1981, and 7 yrs in 1989. Symptoms were more numerous and severe in patients under 12 mos of age, and became fewer and often atypical in older children. We can therefore speculate that the trend towards a decreasing incidence of CD in recent years my be due to delayed diagnosis.