47 research outputs found
Rabies outbreak in Greece during 2012-2014: use of Geographical Information System for analysis, risk assessment and control
The objectives of this work were (i) geographical analysis of the 2012–2014 outbreak of rabies in Greece using GIS and (ii) comparative analysis of animal cases with data of potential human exposure to rabies together with environmental data, in order to provide information for risk assessment, effective monitoring and control. Most animal cases (40/48) involved red foxes, while domestic animals were also diagnosed with rabies. Overall, 80% of the cases were diagnosed in central northern Greece; 75% of the cases were diagnosed in low altitudes (<343·5 m), within a distance of 1 km from human settlements. Median distance from livestock farms was 201·25 m. Most people potentially exposed to rabies (889/1060) presented with dog bite injuries. Maximum entropy analysis revealed that distance from farms contributed the highest percentage in defining environmental niche profiles for rabid foxes. Oral vaccination programmes were implemented in 24 administrative units of the country during 2013 and 2014, covering a total surface area of ~60 000 km2. Rabies re-occurrence in Greece emphasizes the need for ongoing surveillance in cross-border areas and in areas with intense human activity
Hyperglycaemia and insulinopenia in a neonate with cystic fibrosis
Abnormal glucose tolerance is a frequent late complication of cystic
fibrosis (CF), but the prevalence of CF-related diabetes mellitus (CFRD)
in children less than 10 y old is less than 2%. The youngest child with
CFRD reported to date was 6 mo of age. Insulinopenia is the primary
cause of abnormal glucose tolerance/CFRD, but it is unknown whether it
may begin in the neonatal period. We describe a case of a neonate with
CF who presented with hyperglycaemia in the diabetic range and marked
insulinopenia. Insulinopenia and impaired glucose tolerance were
permanent findings at 6 and 15 mo of age.
Conclusion: This case suggests that abnormal glucose tolerance/diabetes
may occur much earlier in the course of CF, even during neonatal age.
Careful follow-up and further studies in CF infants could reveal that
the real incidence of glucose intolerance and diabetes in this age group
has been underestimated
Qualitative and quantitative analysis of mRNA associated with four putative splicing mutations (621+3A -> G, 2751+2T -> A, 296+1G -> C, 1717-9T -> C-D565G) and one nonsense mutation (ES22X) in the CFTR gene
The effects of four splicing mutations and one nonsense mutation on
cystic fibrosis transmembrane conductance regulator (CFTR) gene
expression were investigated by reverse transcription-polymerase chain
reaction analysis of mRNA extracted from nasal epithelial cells
harvested from patients harbouring the mutations. We studied four
subjects with 621+3A–>G, two with 2751+2T–>A, one with 296+1G–>C, two
with 1717-9T–>C-D565G and seven with E822X and compared the results
with CFTR mRNA from normal subjects. Our results showed that mutations
621+3A–>G, 2751+2T–>A, and 296+1G–>C, which disrupt the 5’ splice
donor sites of introns 4, 14a, and 2, respectively, and
1717-9T–>C-D565G, which possibly disrupts the exonic splicing enhancer
sequences of exon 12 (owing to the missense mutation in cis), lead to
the production of aberrantly spliced mRNA in nasal epithelial cells.
Three of the splicing mutations (621+3A–>G, 2751+2T–>A, and
296+1G–>C) result in severe deficiency of normal CFTR mRNA and severe
phenotype in the patients. This information is especially useful for
mutation 621+3A–>G, which is found in other populations as well, and
was initially reported as a polymorphism. The complex allele
1717-9T–>C-D565G results in aberrant splicing of CFTR mRNA with
production of transcripts lacking exon 12 (major product), with minor
amounts of transcripts revealing joint exon 11 and 12 skipping. Nonsense
mutation E822X results in a severe reduction in mRNA levels to about 6%
of wild type. Patients with the mutation have a severe clinical
phenotype, with both the pancreatic and the pulmonary function affected
Voriconazole pharmacokinetics and photosensitivity in children with cystic fibrosis
Background: A high incidence of adverse skin reactions following long-term oral administration of voriconazole in children with cystic fibrosis and allergic bronchopulmonary aspergillosis (ABPA). The aim was to study the pharmacokinetics of voriconazole in these patients and to determine a possible association between drug levels and adverse effects. Methods: Multiple venous blood samples were collected for HPLC determination of voriconazole concentrations and routine blood tests. Adverse events were recorded. Results: No significant correlation was found between incidence of photosensitivity and voriconazole serum levels in 6 of 8 children with ABPA. 80% of patients had trough voriconazole concentrations<1000. ng/mL and were highly variable. Conclusions: Long-term voriconazole therapy and greater sun exposure in Greece appear to play a major role in the occurrence of photosensitivity. Steady-state plasma drug concentrations were found to be highly variable and below the recommended therapeutic range in most patients, without any apparent negative influence on outcome. © 2011 European Cystic Fibrosis Society