RESUMO
INTRODUCTION: We evaluated the congenital malformation rate in the progeny of the personnel of the Salto di Quirra military base in Sardinia. METHODS: During 2011, we gathered questionnaire information on the reproductive history of 389 employees, more then 99% of those eligible for routine health surveillance. RESULTS: the observed congenital malformation rate (20.1 x 10(-3), 95% CI 6.3 - 33.8) was lower than that reported by the Italian Registries of Congenital Malformations, and it did not vary by exposure to radiofrequency, elf electromagnetic fields, and solvents, and by jobs associated with alleged exposure to nanoparticles or alpha radiation. CONCLUSIONS: Our findings suggest that the documented or alleged occupational exposures among the PISQ workforce did not increase the congenital malformation rate in the progeny.
Assuntos
Anormalidades Congênitas/epidemiologia , Anormalidades Congênitas/genética , Militares , Adulto , Humanos , Itália , Instalações Militares , Medição de RiscoRESUMO
OBJECTIVES: To assess the possible association between inherited thrombophilic alterations and the severity of peripheral arterial disease (PAD). DESIGN: A case-control study. METHODS: We evaluated the presence of G20210A prothrombin (FII) and R506Q FV Leiden mutations, antithrombin, protein C and S deficiencies in 176 patients with PAD at Fontaine's stage II and in 106 patients with critical limb ischaemia (Fontaine's stage III/IV) consecutively referred to our unit. As control group, we studied 209 apparently healthy subjects. RESULTS: The prevalence of G20210A prothrombin mutation was similar in PAD patients and controls (odds ratio (OR): 1.361; 95% confidence interval (CI): 0.552-3.355; p=0.503 after adjustment for age, sex, smoking and presence of diabetes), but was significantly higher in patients with Fontaine's stage III/IV vs. those with stage II and controls (10.4% vs. 3.4% vs. 4.3%; p=0.02, respectively). According to a logistic multivariate model that included all patients with PAD, the presence of the FII G20210A mutation (OR: 4.621; 95% CI: 1.548-13.789; p=0.006) was associated with critical limb ischaemia after adjustment for age, sex, smoking, presence of diabetes and the use of platelet aggregation inhibitors. The prevalence of the other thrombophilic alterations was not different in patients with Fontaine's stage III/IV, in patients with stage II and in controls. CONCLUSION: These hypothesis-generating data suggest that the FII 20210A allele may be considered as a genetic marker predisposing critical ischaemia in patients with PAD, justifying larger longitudinal studies.
Assuntos
DNA/genética , Isquemia/genética , Perna (Membro)/irrigação sanguínea , Mutação , Doenças Vasculares Periféricas/complicações , Protrombina/genética , Idoso , Feminino , Seguimentos , Predisposição Genética para Doença , Humanos , Isquemia/sangue , Isquemia/etiologia , Masculino , Doenças Vasculares Periféricas/sangue , Doenças Vasculares Periféricas/genética , Prognóstico , Estudos Retrospectivos , Índice de Gravidade de DoençaRESUMO
A nine-years-old Egyptian boy was referred for speech and language delay. He has an I.Q. of 35 which is in the moderately to severely delayed range. Routine cytogenetic and FISH-techniques revealed a de novo tandem duplication of chromosome 14 bands q12 and q13, i.e., 46, XY, dup (14)(q12q13) and there are no investigations reporting a direct de novo duplication for this region.
