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1.
Pediatr Med Chir ; 39(4): 149, 2017 Dec 13.
Artigo em Inglês | MEDLINE | ID: mdl-29502389

RESUMO

Second generation antipsychotics (SGA) are used in children for the treatment of various psychiatric diseases, including pervasive developmental disorders. These drugs can cause metabolic effects as hyperglycemia and diabetes. A 16-year-old young-boy, diagnosed with autism, developed diabetes mellitus type 1 whilst he was on treatment with olanzapine (started 4 months before), clomipramine, valproic acid and lithium. The hypothesis of druginduced diabetes imposed olanzapine interruption and clozapine initiation. Insulin therapy was practiced, with progressive dosage reduction, until complete cessation of treatment after 13 months. Blood sugar and HbA1c levels remained stable for about a year and then increased again, requiring the introduction of metformin that improved glycemia. In children and adolescents assuming SGA serum glucose and lipid profile should always be assessed before therapy and then frequently monitored. Drug selection must consider family history and the individual risk. Molecule final choice remains equilibrium between efficacy and safety.


Assuntos
Antipsicóticos/efeitos adversos , Benzodiazepinas/efeitos adversos , Diabetes Mellitus Tipo 1/induzido quimicamente , Adolescente , Antipsicóticos/administração & dosagem , Transtorno Autístico/tratamento farmacológico , Benzodiazepinas/administração & dosagem , Glicemia/efeitos dos fármacos , Clomipramina/administração & dosagem , Diabetes Mellitus Tipo 1/tratamento farmacológico , Humanos , Hipoglicemiantes/uso terapêutico , Insulina/uso terapêutico , Lítio/administração & dosagem , Masculino , Metformina/uso terapêutico , Olanzapina , Ácido Valproico/administração & dosagem
2.
Mol Cell Probes ; 26(4): 147-50, 2012 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-22484412

RESUMO

Wilson's disease (WD), an autosomal recessive disorder of copper transport with a broad range of genotypic and phenotypic characteristics, results from mutations in the ATP7B gene. Herein we report the results of mutation analysis of the ATP7B gene in a group of 118 Wilson disease families (236 chromosomes) prevalently of Italian origin. Using DNA sequencing we identified 83 disease-causing mutations. Eleven were novel, while twenty one already described mutations were identified in new populations in this study. In particular, mutation analysis of 13 families of Romanian origin showed a high prevalence of the p.H1069Q mutation (50%). Detection of new mutations in the ATP7B gene in new populations increases our capability of molecular analysis that is essential for early diagnosis and treatment of WD.


Assuntos
Adenosina Trifosfatases/genética , Proteínas de Transporte de Cátions/genética , Degeneração Hepatolenticular/genética , Mutação , ATPases Transportadoras de Cobre , Análise Mutacional de DNA , Genótipo , Degeneração Hepatolenticular/diagnóstico , Degeneração Hepatolenticular/etnologia , Humanos , Itália , Fenótipo , Análise de Sequência de DNA , População Branca
3.
J Matern Fetal Neonatal Med ; 24 Suppl 2: 48-51, 2011 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-21749188

RESUMO

Rotaviruses (RVs) were found to cause human disease in 1973. They are the leading cause of severe gastroenteritis in infants and young children of <5 years of age worldwide and they are the cause of approximately half a million deaths each year. The impact of the disease on families and society (increased health care costs, lost productivity) is extremely significant and the incidence of gastroenteritis (RVGE) is similar both in industrialized and in developing countries. Virtually, all the children will be Infected by RVs before the ages of 3-5 years with the highest incidence rate registered between 6-24 months of age while the greatest risk for developing severe disease by RV occurs under 12 months of age. Clinically, the infection can vary from asymptomatic and sub clinic forms, which are more common in older children and adults, to acute gastroenteritis with fever, vomiting and self-limiting watery diarrhea which persist for 3 to 8 days. Severe forms with profuse diarrhea accompanied by vomiting and fever with risk of dehydration not adequately and rapidly correct can be fatal, mainly in developing countries. Hygienic-sanitary measures are unable to limit the diffusion of this infection and vaccination at present seems the only effective system to reduce the burden of the disease, human and economic costs related to RVGE. Since the 1980s research has focused on the development of RV vaccines. Vaccines against RV are efficacious, and underwent extensive safety trials (involving more than 130,000); no association with intussusception was detected and in four years since they were licensed a substantial reduction in the rates of RVs hospitalization and deaths for RVs infection have been observed both in developed and less-developed countries. It has been also described in different studies that herd immunity can be induced by RV vaccines (as an indirect effect) by reducing the risk of unvaccinated persons to be infected. Thus, introduction of the vaccine into countries immunization programs is likely to have a greater effect than that predicted on the basis of the efficacy trials. The worldwide epidemiological impact of RV infection pointed the development of safe and effective vaccines against RVs as a public health priority. The great economical burden on health care systems and families suggests the importance of monitoring circulating strains, establishment of systems for surveillance and implementation of universal newborns vaccination.


Assuntos
Infecções por Rotavirus/epidemiologia , Infecções por Rotavirus/prevenção & controle , Adulto , Criança , Pré-Escolar , Países em Desenvolvimento/economia , Custos de Cuidados de Saúde , Humanos , Lactente , Saúde Pública/economia , Infecções por Rotavirus/economia , Estatística como Assunto/normas
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