RESUMO
One hundred children put on a gluten free diet because of suspected coeliac disease were followed for a mean period of 9.9 years. The diagnosis was eventually confirmed in 53. Under the age of two, 35 children showed subtotal villous atrophy in their initial biopsy but nine of these on subsequent gluten challenge and rebiopsy were found to tolerate gluten normally. Challenge and rebiopsy are also necessary for children over the age of two where the initial biopsy changes are less severe than subtotal villous atrophy. Such challenges can probably be carried out earlier than the recommended age of six given in the 1990 ESPGAN (European Society for Paediatric Gastroenterology and Nutrition) report with little risk of serious dental damage.
Assuntos
Doença Celíaca/dietoterapia , Mucosa Intestinal/patologia , Síndromes de Malabsorção/dietoterapia , Biópsia , Doença Celíaca/diagnóstico , Doença Celíaca/patologia , Pré-Escolar , Diarreia/etiologia , Glutens/efeitos adversos , Humanos , Lactente , Síndromes de Malabsorção/diagnóstico , Síndromes de Malabsorção/patologia , MasculinoAssuntos
Doença Celíaca/diagnóstico , Estatura , Peso Corporal , Doença Celíaca/patologia , Doença Celíaca/terapia , Criança , Pré-Escolar , Dieta , Feminino , Glutens , Humanos , Lactente , Mucosa Intestinal/patologia , MasculinoAssuntos
Calcinose/patologia , Hepatopatias/patologia , Pré-Escolar , Humanos , Masculino , Pele/patologiaAssuntos
Diarreia Infantil/epidemiologia , Aleitamento Materno , Feminino , Humanos , Lactente , Irlanda , MasculinoAssuntos
Diabetes Mellitus/genética , Atrofia Óptica/genética , Criança , Pré-Escolar , Surdez/genética , Feminino , Humanos , MasculinoRESUMO
A family, including two sibs with partial trisomy 15 is described. Maternal chromosome analysis revealed 46,XX/47,XX,+15q-, mosaicism. These findings are discussed in relation to seventeen previously published cases, some of which were sporadic and others due to maternal balanced translocation.
Assuntos
Cromossomos Humanos 13-15 , Trissomia , Epilepsia/genética , Humanos , Lactente , Deficiência Intelectual/genética , Mosaicismo , LinhagemAssuntos
Diarreia Infantil/epidemiologia , Hospitalização , Humanos , Lactente , Irlanda , Tempo de InternaçãoRESUMO
A case of foetal alcoholism is reported. Its relationship to the de Lange syndrome is briefly discussed and the practical importance of correct diagnosis is emphasised.
