Missed Diagnosis of ß-Thalassemia Trait in Premarital Screening Due to Accompanying HbA2-Yialousa (HBD: c.82G>T).

The diagnosis of ß-thalassemia (ß-thal) trait is usually based on an elevated HbA2 fraction (3.5% to 8%). Co-inheritance of a δ-globin variant along with ß-globin gene defects can interfere with the diagnosis of ß-thal trait by causing normal HbA2 levels. In this report, we present an infant with ß-thal major whose mother's ß-thal trait was missed twice before due to an accompanying δ-globin mutation (HbA2-Yialousa; HBD: c.82G>T), resulting in a borderline HbA2 level. In an individual with microcytosis and hypochromia but an apparently normal HbA2 level, compound heterozygosity for a δ-globin mutation and a ß-thal mutation should be remembered in the differential diagnosis.

Genetic and environmental factors in human osteoporosis.

Osteoporosis is a common disorder, with prolongation of the average life span it has become a major public health problem. On the formation of osteoporosis genetic factors and environmental influences could play a role then it is considered as multi-factorial. Because a variety of functions to affect susceptibility to the formation of osteoporosis VDR-F, VDR-B, COL1A1, ESR1X, ESR1P and CTR are thought to be candidate genes. In this study, the aim is to investigate the relationship between these genes polymorphism and bone mineral density (BMD) values of lumbar vertebra and femoral neck in 188 Turkish people. Lumbar spine and femoral neck BMD of the individuals included in the study were measured by the dual X-ray absorptiometry method. The genotyped polymorphisms by simultaneous amplification of five regions of the genome, containing six SNPs of interest and detecting the amplified product, using the kit MetaBone Clinical Arrays(®). Statistical analyses indicated that; VDR-B gene polymorphisms major (P = 0.013), VDR-F polymorphisms have minor (P = 0.082) effect on femur BMD. None of the other genes has any significant effect on spinal BMD. Patient age, body mass index and diet has significant effect on femoral and spinal BMD. Osteoporosis is a multi-factorial disease and many genetic and non-genetic risk factors contribute to the development of osteoporosis. Early detection of a genetic predisposition to osteoporosis should allow delay and/or limit unfavorable changes in the bone tissue.

Novel Zinc Finger Protein Gene 469 (ZNF469) Variants in Advanced Keratoconus.

PURPOSE: Common polymorphic variants upstream of Zinc finger protein gene 469 (ZNF469) have been associated with central corneal thickness. Rare ZNF469 variants have been shown in keratoconus patients. The aim of the current study was to investigate the frequency of ZNF 469 gene variants in rapidly progressive advance keratoconus patients who underwent corneal transplant surgery by the age of 30, compared to their frequency in the normal Turkish population. METHODS: A search in a patient database was performed to identify patients with a rapidly progressive keratoconus requiring corneal transplant surgery by the age of 30 in at least one eye. Twenty-six advance keratoconus patients (study group) and 109 health subjects (control group) were included in the study. Blood samples were donated, and genomic DNA was extracted. The entire coding sequence of the ZNF469 gene including the 84 bp of the putative intron was amplified using PCR primers and analyzed using next generation sequencing (NGS). RESULTS: Fifteen single nucleotide polymorphisms previously reported and registered to the dbSNP database were detected in the study group. The allele frequencies of these polymorphisms were higher in the keratoconus group compared to the control group and to the ExAC genome database. Three new missense heterozygote variants and one new synonym variant were detected in keratoconus group. According to prediction software, the P873T and Q2188H variants were shown to be non-tolerated, whereas G3424S could be tolerated. The synonymous variant R1060R is not predicted to lead to abnormal splicing by Human Splicing Finder in silico analysis. CONCLUSION: New detected ZNF 469 P873T and Q2188H heterozygote coding variants in isolated advance keratoconus patients may be associated with the disease pathogenesis.

The use of a standardized pre-participation physical examination form in Turkish adolescent athletes.

OBJECTIVE: The pre-participation physical examination (PPE) has become the standard of care for athletes of all ages. The PPE is generally intended to identify medical conditions that may affect safe and effective participation in organized sports. The aim of this study is to validate and to implement a standardized questionnaire in Turkish language, which might aid Turkish physicians during the PPE. METHODS: A total of 1350 athletes visiting the yearly PPE of the Directorate of Sports and Youth in Isparta, Turkey were asked to participate in this study between October 2001 and November 2001. Eight hundred and ten (60%) students accepted to fill out the questionnaire. A self-reported questionnaire that includes 2 parts has been administered. The first part included questions on socio-demographics. Second part is a translated PPE evaluation form. The questionnaire has been piloted in 15 adolescent students. Athletes have been examined afterwards by one of the medical practitioner and he used the questionnaire (PPE Evaluation Form) to identify additional problems in each athlete. RESULTS: Participants were predominantly male, with higher family income and social security, active at an amateur level, participated in team, and in contact sports. Internal consistency of the PPE form was Cronbach alpha=0.69. Thirty-one (3.8%) athletes had significant findings that needed further evaluation. No one was disqualified after follow-up. Eight items, which asked for certain cardiovascular risk factors, had significant relation to cardiovascular findings of PPE [Chi-Square (1) = 7.4-99.6, p<0.01]. An additional 132 (16.3%) athletes had significant problems that never had been adequately evaluated or treated but which were not likely to affect safe sports participation. CONCLUSION: The Turkish PPE form seems to be promising tool to support the physician during PPE. Using a standardized and valid PPE tool might diminish the dependency of primary care physicians to technological equipment, which are mostly not available in developing countries' primary health care settings and would also reduce the costs of PPE, which might not be affordable for athletes without social security.