RESUMO
The Authors describe two monochorionic twins affected by Niemann-Pick disease type C with a clinical picture beginning in the neonatal age and with a progressive mental deterioration, loss of speech and spasticity started at 30 months. The importance of cultured skin fibroblasts is emphasized. The evidence of a defective intracellular cholesterol esterification is established as an intrinsic feature of Niemann-Pick disease type C.
Assuntos
Doenças em Gêmeos/diagnóstico , Doenças de Niemann-Pick/genética , Gêmeos Monozigóticos/genética , Células Cultivadas , Pré-Escolar , Feminino , Fibroblastos , Humanos , Doenças de Niemann-Pick/sangue , Doenças de Niemann-Pick/diagnósticoRESUMO
The aggressive use of multiple therapeutic modalities has led to a significant increase in the number of survivors of childhood malignancy. Abnormalities of linear growth, thyroid function and sexual development are encountered often in children and adolescents following the successful treatment of brain tumours.
Assuntos
Neoplasias Encefálicas/terapia , Gônadas/fisiologia , Crescimento , Puberdade , Glândula Tireoide/fisiologia , Adulto , Fatores Etários , Neoplasias Encefálicas/radioterapia , Criança , Pré-Escolar , Feminino , Seguimentos , Transtornos do Crescimento/etiologia , Humanos , Hipotireoidismo/etiologia , Masculino , Hipófise/fisiologia , Hipófise/efeitos da radiação , Prognóstico , Radioterapia/efeitos adversos , Dosagem Radioterapêutica , Glândula Tireoide/efeitos da radiação , Fatores de TempoRESUMO
Results of one year follow-up of children restraint system mandatory use in Italy are exposed: transgression are not pursued and a frequent traumatical pathology for the childhood takes place.
Assuntos
Acidentes de Trânsito/prevenção & controle , Equipamentos para Lactente , Cintos de Segurança , Adolescente , Criança , Pré-Escolar , Humanos , Lactente , Recém-Nascido , Itália , Cintos de Segurança/legislação & jurisprudênciaRESUMO
An infant boy with asymmetric crying facies, microcephaly, developmental retardation and failure to thrive is reported. His two siblings died in the newborn period because of complex congenital heart defects. The mother and the maternal grandmother have asymmetric crying facies, microcephaly and normal intelligence. A maternal aunt has severe physical and mental retardation, facial asymmetry, microcephaly, and cleft palate. This family allows an expansion of the spectrum of malformations associated with asymmetric crying facies and suggests autosomal dominant inheritance with variable expressivity.
Assuntos
Anormalidades Múltiplas/genética , Assimetria Facial/genética , Deficiência Intelectual/genética , Microcefalia/genética , Choro , Assimetria Facial/congênito , Feminino , Genes Dominantes , Cardiopatias Congênitas/genética , Humanos , Lactente , Masculino , Linhagem , SíndromeRESUMO
A multicenter clinical trial has been fulfilled by 18 Paediatric Hospital Centers in the regions of Piedmont and Aosta Valley, on 139 cases, concerning the use of a new macrolide, miocamycin, in the therapy of various infective diseases, such as upper and lower respiratory tract infections, ear and nose, throat, teeth affections, minor surgery, some contagious diseases. The results of this trial show a good effectiveness of the drug, consisting in a rapid disappearance of the clinical symptoms, a high degree of systemic and gastroenteric tolerability, and very poor side effects.
