EXPANDED NEWBORN SCREENING PROGRAM WITH TANDEM MASS SPECTROMETRY (2002-2010): RESULTS OF A SINGLE CENTER IN TURKEY

WOS: 000309837800611

Hyperhydroxyprolinaemia detected in newborn screening with tandem mass spectrometry

Hydroxyproline has the same integer molecular weight as leucine and isoleucine and is quantified with these by tandem mass spectrometry. An infant was diagnosed with hyperhydroxyprolinaemia following further evaluation of an elevated 'leucine' level in newborn screening by tandem mass spectrometry

Plasma total homocysteine levels in a healthy Turkish population sample

Objective - The objective of this study is to determine the reference values of homocysteine levels from a sample of healthy native Turks, and the relationship of these levels with gender, age and other risk factors. Methods and results - Plasma homocysteine level was measured in 159 healthy Turkish individuals. Homocysteine levels were determined by the HPLC method and differences between sex and age groupings (20-40 years, 41-60 years, and 61 and older) were compared. Mean homocysteine levels were 8.91 ± 1.41 µmol/l. The median homocysteine level was 8.35 µmol/l (men 8.80, women 7.0). Homocysteine levels significantly increased with age (r = 0.49) and higher in men than in women in each age group (p 60-year-old women manifested significantly higher increases in total homocysteine concentrations than 20 to 40-year-old premenopausal women. There were no significant correlations between homocysteine and body mass index, glucose, total and lipoprotein lipids, C-reactive protein, creatinine, smoking and alcohol consumption except blood pressure and uric acid. Conclusions - These data indicate the significance of sex- and age-associated differences of homocysteine levels in native Turkish subjects. Upper reference limits for the plasma total homocysteine concentration increased with age and were higher for men than for women at all ages. Focusing public health initiatives on this issue may reduce the high prevalence of cardiovascular disease in the Turkish population

Hyperhydroxyprolinaemia detected in newborn screening with tandem mass spectrometry

Hydroxyproline has the same integer molecular weight as leucine and isoleucine and is quantified with these by tandem mass spectrometry. An infant was diagnosed with hyperhydroxyprolinaemia following further evaluation of an elevated 'leucine' level in newborn screening by tandem mass spectrometry

Relationship Between Physical, Environmental and Sociodemographic Factors and School Performance in Primary Schoolchildren

Poor primary school performance is a risk factor for low high-school and university graduation, as well as poverty in later life. In this case-control study, the relation between a variety of physical, environmental and sociodemographic factors, and primary school performance was investigated. Grade one students with good and poor school achievement, from different socioeconomic levels were studied. A questionnaire about the sociodemographic characteristics and child's medical history, together with a Child Behavior Checklist, was filled out by parents. Physical examination, visual and hearing screening were performed. Blood count and blood lead levels were determined. Wechsler Intelligence Scale for Children-Revised (WISC-R) was performed to determine the IQ. A total of 177 students participated in the study. Stepwise logistic regression revealed an independent positive relation between duration of study (OR, 2.69; Cl, 1.19-6.05; p = 0.016), maternal education (OR, 1.47; Cl, 1.14-1.87; p = 0.002), full scale score of WISC-R (OR, 1.08; Cl, 1.03-1.3; p = 0.002) and school performance. Multinomial logistic regression revealed that the risk of having a below average full scale WISC-R score was higher among children having a hearing loss, uncorrected vision loss, heating house with stove, cigarette smoking of both parents, and low paternal education (less than 8 years). The chance of having an above average full scale WISC-R score was lower among children whose either parent smoked cigarettes, height-for-age percentile was below 10, and maternal education was less than 8 years. Policies for increasing male and female education, growth monitoring, appropriate feeding (breastfeeding and weaning), well-baby and child followup and clean environment (indoor and outdoor) will not only promote the physical health but also promote the cognitive development of the new generations.WoSScopu

Serosurveillance study on transmission of H5N1 virus during a 2006 avian influenza epidemic

In 2006 an outbreak of avian influenza A(H5N1) in Turkey caused 12 human infections, including four deaths. We conducted a serological survey to determine the extent of subclinical infection caused by the outbreak. Single serum samples were collected from five individuals with avian influenza whose nasopharyngeal swabs tested positive for H5 RNA by polymerase chain reaction, 28 family contacts of the cases, 95 poultry cullers, 75 individuals known to have had contact with diseased chickens and 81 individuals living in the region with no known contact with infected chickens and/or patients. Paired serum samples were collected from 97 healthcare workers. All sera were tested for the presence of neutralizing antibodies by enzyme-linked immunoassay, haemagglutination inhibition and microneutralization assays. Only one serum sample, from a parent of an avian influenza patient, tested positive for H5N1 by microneutralization assay. This survey shows that there was minimal subclinical H5N1 infection among contacts of human cases and infected poultry in Turkey in 2006. Further, the low rate of subclinical infection following contact with diseased poultry gave further support to the reported low infectivity of the virus