RESUMO
BACKGROUND: While Miller-Dieker syndrome critical region deletions are well known delineated anomalies, submicroscopic duplications in this region have recently emerged as a new distinctive syndrome. So far, only few cases have been described overlapping 17p13.3 duplications. METHODS: In this study, we report on clinical and cytogenetic characterization of two new cases involving 17p13.3 and 3p26 chromosomal regions in two sisters with familial history of lissencephaly. Fluorescent In Situ Hybridization and array Comparative Genomic Hybridization were performed. RESULTS: A deletion including the critical region of the Miller-Dieker syndrome of at least 2,9 Mb and a duplication of at least 3,6 Mb on the short arm of chromosome 3 were highlighted in one case. The opposite rearrangements, 17p13.3 duplication and 3p deletion, were observed in the second case. This double chromosomal aberration is the result of an adjacent 1:1 meiotic segregation of a maternal reciprocal translocation t(3,17)(p26.2;p13.3). CONCLUSIONS: 17p13.3 and 3p26 deletions have a clear range of phenotypic features while duplications still have an uncertain clinical significance. However, we could suggest that regardless of the type of the rearrangement, the gene dosage and interactions of CNTN4, CNTN6 and CHL1 in the 3p26 and PAFAH1B1, YWHAE in 17p13.3 could result in different clinical spectrums.
Assuntos
Lissencefalias Clássicas e Heterotopias Subcorticais em Banda/genética , Lisencefalia/genética , Neurônios/patologia , Translocação Genética/genética , 1-Alquil-2-acetilglicerofosfocolina Esterase/genética , Proteínas 14-3-3/genética , Moléculas de Adesão Celular/genética , Movimento Celular/genética , Pré-Escolar , Deleção Cromossômica , Cromossomos Humanos Par 17/genética , Cromossomos Humanos Par 3/genética , Lissencefalias Clássicas e Heterotopias Subcorticais em Banda/diagnóstico , Lissencefalias Clássicas e Heterotopias Subcorticais em Banda/fisiopatologia , Hibridização Genômica Comparativa , Contactinas/genética , Feminino , Dosagem de Genes/genética , Estudos de Associação Genética , Humanos , Hibridização in Situ Fluorescente , Lisencefalia/diagnóstico , Lisencefalia/fisiopatologia , Meiose/genética , Proteínas Associadas aos Microtúbulos/genética , Neurônios/metabolismo , Fenótipo , Trissomia/genéticaRESUMO
BACKGROUND: Pneumococcal infections are an important cause of morbidity and mortality in the world and in Tunisia. Data on the economic burden of these infections are needed to inform decision-making to include pneumococcal vaccinations in routine childhood immunization. AIMS: This study aimed to estimate the medical cost of hospitalizations due to invasive pneumococcal disease (pneumonia and meningitis) among children aged under 15 years old in Tunisia. METHODS: A prospective multicentre study was conducted in 15 paediatric departments, across different socio-economic areas of Tunisia, from June 2014 to May 2015. All children aged under 15 years old who were hospitalized for pneumococcal pneumonia or confirmed bacterial meningitis were enrolled. A case report form was completed for every eligible case. Activity Based Costing method was used to estimate the hospital cost. Data entry and statistical analysis were conducted using SPSS, version 20.0. RESULTS: During the study period, 727 children were hospitalized for pneumococcal pneumonia and 60 children were hospitalized for bacterial meningitis, among them 21(35%) had confirmed pneumococcal meningitis. The median hospital cost for pneumococcal pneumonia was 353.910 Tunisian Dinars (TND) and TND 1680.632 for pneumococcal meningitis. Using overall data extrapolation, it was estimated that nearly 1091 hospitalizations for pneumococcal pneumonia and 69 hospitalizations for pneumococcal meningitis occurred each year in Tunisian children aged under 15 years of age, incurring total costs of TND 502 079.408. CONCLUSION: The economic burden of pneumococcal infections seems to be substantial in Tunisia. The estimated costs does not reflect the real costs of this infection. Cost-effectiveness studies would be helpful to inform policy-makers to take appropriate decisions.
Assuntos
Custos Hospitalares , Meningite Pneumocócica/economia , Pneumonia Pneumocócica/economia , Pré-Escolar , Feminino , Custos Hospitalares/estatística & dados numéricos , Humanos , Lactente , Recém-Nascido , Masculino , Meningite Pneumocócica/terapia , Pneumonia Pneumocócica/terapia , Estudos Prospectivos , TunísiaRESUMO
BACKGROUND: Zoonotic visceral leishmaniasis (ZVL) caused by Leishmania infantum is endemic with an epidemiological profile of a paediatric disease in Tunisia. In the context of a high fatality rate, identifying risk factors for in-hospital mortality in children treated for ZVL is of major epidemiological importance. DESIGN: A retrospective (case-control) study included 230 immuno-competent children diagnosed and confirmed with primary ZVL in the paediatric department of the University Hospital of Kairouan between 2004 and 2014. Forty-seven per cent (47%) were children under 18 months of age, and with a male / female ratio of 1.01:1. RESULTS: The overall case-fatality was 6% (n = 14). The risk factors for in-hospital death identified by a multivariate analysis were: bleeding at admission (OR = 25.5, 95% CI: 2.26-287.4; p = 0.009), white cell count less than 4000/mm3 (OR = 5.66, 95% CI: 1.16-27.6; p = 0.032), cytolysis (OR = 28.13, 95% CI: 4.55-173.6; p < 0.001), and delay between onset of symptoms and admission ≥ 15 days (OR = 11, 95% CI: 1.68-72; p = 0.012). CONCLUSION: The results strongly suggest that paediatric patients admitted 15 days after onset of symptoms, with bleeding, white cell counts below 4,000/mm3, and cytolysis at admission should be considered severe cases and subsequently, they are at high risk of mortality. A better understanding of factors associated with death of children from ZVL may contribute to decrease mortality.