Osteoporosis-pseudoglioma syndrome: clinical, genetic, and treatment-response study of 10 new cases in Greece.

Osteoporosis-pseudoglioma syndrome (OPPG) is a rare autosomal-recessive disorder, characterized by severe osteoporosis and early-onset blindness. Loss of function mutations in the gene encoding low-density lipoprotein receptor-related protein 5 (LRP5) have been established as the genetic defect of the disease. We report the clinical and genetic evaluation of ten OPPG cases in eight related nuclear families and their close relatives. Bone mineral density (BMD) in OPPG patients was assessed by dual-energy X-ray absorptiometry (DXA). Genotyping of LRP5 gene and targeted detection of index mutation were performed by DNA direct sequencing. Four patients were introduced to bisphosphonates. Mutational screening of LRP5 gene revealed the c.2409_2503+79del deletion in homozygous state, expected to result in a truncated protein. Among 44 members of the pedigree, 10 (22%) were identified homozygous and 34 (59%) heterozygous for this mutation. All patients had congenital blindness and 7 of them had also impaired bone mineral density. Four of them received bisphosphonates and responded with decreased bone pain and improvement in BMD; however, 3 patients presented with one fracture during treatment.Conclusion: The current study presents the molecular and clinical profiles of 10 new OPPG cases, being part of an extended pedigree. Patients who received bisphosphonate treatment responded well with increase in their BMD, though fractures occurred during therapy. What is known: • OPPG syndrome is a rare genetic disorder characterized by congenital blindness and juvenile osteoporosis. • Loss of function mutations in the gene encoding low-density lipoprotein receptor-related protein 5 (LRP5) is the genetic defect of the disease. What is new: • Genetic and clinical phenotype of 10 new OPPG patients. • The ten new OPPG patients presented with phenotypical variability in osseous manifestations.

Molecular detection and identification of enteroviruses in children admitted to a university hospital in Greece.

Although enteroviral infections occur frequently during childhood, the circulation of particular serotypes has never been studied in Greece. The objectives of the present report were molecular detection and identification of human enteroviruses in children admitted with nonspecific febrile illness or meningitis to a university hospital during a 22-month period. A one-step Real-Time RT-PCR protocol was used for rapid enterovirus detection in genetic material extracted directly from clinical samples, and a sensitive reverse transcription-semi-nested PCR targeting part of the VP1-coding region was used for genotypic identification of the different serotypes. Twenty-one enterovirus strains were detected and identified in 20 stool samples, one cerebrospinal fluid (CSF) sample, one whole blood sample and one throat swab from 21 out of 134 febrile patients (15.7%). Ten strains belonged to Human Enterovirus Species B (HEV-B) (six serotypes) and eleven to HEV-A (four serotypes). Most of the strains were closely associated with virulent strains circulating in Europe and elsewhere. Detection of the emerging pathogen enterovirus 71 for a first time in Greece was particularly important.

Physical activity patterns and obesity status among 10- to 12-year-old adolescents living in Athens, Greece.

BACKGROUND: Childhood obesity has become a modern epidemic with escalating rates. The aim of our study was to identify physical activity patterns among Greek schoolchildren and to examine their relationship with obesity. METHODS: 700 adolescents age 10 to 12 years were evaluated through a standardized questionnaire. Several demographic, socioeconomic, and physical activity characteristics were recorded. Physical activity was assessed and adolescents were characterized as active and nonactive. Body height and weight were measured and body mass index was calculated in order to classify subjects as overweight or obese (IOTF classification). Multiple logistic regression and multivariate techniques (principal components analysis) were performed. RESULTS: Eight physical activity patterns were identified, including increased physical activity in weekdays and weekends, sports physical activity, vigorous, moderate, and low physical activity. Increased physical activity on weekends and vigorous physical activity in boys were negatively associated with being overweight or obese (OR: 0.65; 95% CI: 0.48-0.90 and OR: 0.66; 95% CI: 0.49-0.88, correspondingly) and moderate physical activity was marginally positively associated in girls (OR: 1.28; 95% CI: 0.97-1.69), after adjusting for several confounders. CONCLUSIONS: Our findings demonstrate the important role of vigorous physical activity in the maintenance of normal weight of adolescents.