RESUMO
The pandemic of coronavirus SARS-CoV-2 disease affected Northern Italy, spreading from the Bergamo province to the entire country. During reorganization of our emergency department to support patients presenting with coronavirus SARS-CoV-2 disease, we aimed to evaluate whether children play a role in intrahospital spread of the infection.
Assuntos
Infecções por Coronavirus/prevenção & controle , Infecções por Coronavirus/terapia , Infecção Hospitalar/prevenção & controle , Hospitais Pediátricos/normas , Controle de Infecções/normas , Pandemias/prevenção & controle , Pneumonia Viral/prevenção & controle , Pneumonia Viral/terapia , Betacoronavirus , COVID-19 , Criança , Serviço Hospitalar de Emergência/normas , Pessoal de Saúde , Humanos , Itália/epidemiologia , Exposição Ocupacional/prevenção & controle , Equipamento de Proteção Individual , Quarentena , SARS-CoV-2RESUMO
OBJECTIVE: To evaluate the performance of a diagnostic protocol for neonatal/infantile cholestasis in which the main clinical patterns steered the early use of different genetic testing strategies. STUDY DESIGN: An observational study was conducted between 2012 and 2017 in a tertiary care setting on a prospective cohort of children with cholestasis occurring at ≤1 year of age and persisting ≥6 weeks, to measure the detection rate of underlying monogenic diseases. After the exclusion of biliary atresia, a clinically driven genetic testing was performed, entailing 3 different approaches with different wideness: confirmatory single-gene testing; focused virtual panels; and wide search through trio whole-exome sequencing. RESULTS: We enrolled 125 children (66 female, median age 2 months); 96 (77%) patients had hypocholic stools and were evaluated rapidly to exclude biliary atresia, which was the final diagnosis in 74 (59%). Overall, 50 patients underwent genetic testing, 6 with single confirmatory gene testing, 38 through panels, and 6 with trio whole-exome sequencing because of complex phenotype. The genetic testing detection rate was 60%: the final diagnosis was Alagille syndrome in 11, progressive familial intrahepatic cholestasis type 2 in 6, alpha-1-antitrypsin deficiency in 3, and progressive familial intrahepatic cholestasis type 3 in 2; a further 7 genetic conditions were identified in 1 child each. Overall, only 18 of 125 (14%) remained with an indeterminate etiology. CONCLUSIONS: This protocol combining clinical and genetic assessment proved to be an effective diagnostic tool for neonatal/infantile cholestasis, identifying inherited disorders with a high detection rate. It also could allow a noninvasive diagnosis in children presenting with colored stools.
Assuntos
Colestase/diagnóstico , Colestase/genética , Sequenciamento de Nucleotídeos em Larga Escala , Subfamília B de Transportador de Cassetes de Ligação de ATP/deficiência , Subfamília B de Transportador de Cassetes de Ligação de ATP/genética , Síndrome de Alagille/diagnóstico , Síndrome de Alagille/genética , Algoritmos , Atresia Biliar/diagnóstico , Atresia Biliar/genética , Criança , Pré-Escolar , Colestase Intra-Hepática/diagnóstico , Colestase Intra-Hepática/genética , Exoma , Fezes , Feminino , Testes Genéticos , Humanos , Lactente , Recém-Nascido , Masculino , Fenótipo , Estudos Prospectivos , Atenção Terciária à Saúde , Deficiência de alfa 1-Antitripsina/diagnóstico , Deficiência de alfa 1-Antitripsina/genéticaRESUMO
Chagas disease (CD) is an uncommon disease in Europe. Its epidemiology has changed because of mass migration from Latin America to Europe. Herein we describe a congenital case of CD in a Bolivian newborn in Bergamo, the main city of residence for the Bolivian community in Italy. At delivery, serological analyses evidenced IgG antibodies against Trypanosoma cruzi both in the child and mother, as expected. Hemoscopic analyses on peripheral blood were repeatedly negative during the first months of life. Eventually, thanks to T. cruzi Real Time polymerase chain reaction (RT-PCR) positivity on peripheral blood and development of progressive anemia in the following weeks, congenital Chagas disease was diagnosed and benznidazole-based therapy started. A progressive antibodies' index decrease was observed till negativity (306 days apart). RT-PCR was negative at the end of treatment. Our case is instructive and management of congenital CD is discussed from the perspective of a non-endemic country.
Assuntos
Doença de Chagas/congênito , Bolívia/etnologia , Feminino , Humanos , Recém-Nascido , ItáliaRESUMO
The requirements for and conditions of subspecialty training in paediatric gastroenterology, hepatology, and nutrition (PGHN) are rather variable across European countries. The European Society for Pediatric Gastroenterology, Hepatology, and Nutrition (ESPGHAN) agreed on a training syllabus aimed to foster a harmonised European PGHN curriculum and to support national PGHN societies and governmental bodies to promote and establish high-quality training programmes and levels of certification in the field. The document provides PGHN training prerequisites and objectives and the basic knowledge elements to acquire the clinical, technical, and management skills needed. Guidelines and instruments for self-monitoring and appraisal are proposed, and a logbook is available online. These training standards are a first step towards a European certification and recognition as a specialist in PGHN.
Assuntos
Currículo , Gastroenterologia/educação , Ciências da Nutrição/educação , Pediatria/educação , Sociedades Médicas , Especialização/normas , Certificação/normas , Competência Clínica , Europa (Continente) , Gastroenterologia/normas , Humanos , Pediatria/normasRESUMO
OBJECTIVE: To investigate whether combining the antiviral effect of lamivudine with the immune-boosting action of interferon-alpha (IFN-alpha) is effective in treating hepatitis B virus (HBV) "immunotolerant" children. STUDY DESIGN: Twenty-three children (8 boys; mean age, 10 years) infected during the first year of life (17 Asian, 21 with normal aminotransferase levels, 15 with HBV-DNA >1000 pg/mL by hybridization and all with mild histologic changes) were treated with lamivudine (3 mg/kg) for 8 weeks alone and then lamivudine (3 mg/kg) and IFN-alpha (5 MU/m(2), 3 times weekly) in combination for 10 months. RESULTS: Seventy-eight percent became HBV-DNA negative at the end of treatment, 5 (22%) seroconverted to anti-HBe, 4 (17%) of whom achieved complete viral control, becoming persistently HBsAg negative and anti-HBs positive. None had YMDD mutations. The viral status of the patients has not changed after a median follow-up of 40 months (range, 36 to 48). CONCLUSIONS: This pilot study suggests that lamivudine pretreatment followed by a combination of lamivudine and IFN-alpha can induce complete viral control in HBV immunotolerant children, hitherto considered poor responders.