GNB3 gene c.825C>T polymorphism and performance parameters in professional basketball players.

UNLABELLED: This study has been conducted to determine whether mean values of peak oxygen consumption (VO(2peak)), anaerobic test parameters and knee isokinetic test measurements are different among guanine nucleotide-binding protein, beta-3 (GNB3) genotype groups in a group of basketball players. METHODS: Seventy-two healthy male (mean age, 22.9 ± 5.3 years) basketball players from the first division of national league participated. We studied GNB3 gene c.825C>T (rs5443) polymorphism, then divided the subjects into three groups as CC (n = 21), CT (n = 35), and TT (n =1 6). Mean VO(2peak), Wingate anaerobic test results, and isokinetic knee muscle strength measurements were compared among the genotype groups. RESULTS: Mean VO(2peak) (60.1 ± 3.9; 56.7 ± 3.6; and 57.8 ± 3.3, respectively, p < 0.01), mean anaerobic minimum power (5.1 ± 0.4; 5.3 ± 0.5; and 4.4 v 0.5 W/kg, respectively, p < 0.001), mean anaerobic power drop (57.0 ± 6.2; 54.2 ± 6.9; and 62.9 ± 5.3%, respectively, p < 0.001) were significantly different among the study groups, CC, CT, and TT. Individuals with TT genotype exerted lower performance in terms of isokinetic knee muscle strength. CONCLUSION: The presence of 825T-allele may impair athletic performance and may serve as a genetic marker of low capacity for athletic performance in male basketball players.

Endothelial nitric oxide synthase intron 4a/b polymorphism in coronary artery disease in Thrace region of Turkey.

Coronary artery disease (CAD) is one of the frequent cardiovascular mortality causes in the world. Common risk factors explain only about half the risk of CAD. The healthy familial predisposition to CAD, combined with advances in genetic analysis, has led to a number of studies in recent years making an effort to identify the genetic factors that influence the risk. The approach taken by most studies was to examine the association of naturally occurring genetic polymorphisms in candidate genes with risk of or severity of CAD. Endothelial nitric oxide synthase (eNOS) is important for vascular and tissue protection and is found in endothelial cells that encompass the entire vasculature, including the vessels in the heart. Nitric oxide (NO) is produced in a catabolic reaction in the endothelial cells, neurons, glia and macrophages by nitric oxide synthase (NOS) isoenzymes. eNOS is a subgroup of this family of enzymes that catalyses the production of nitric oxide (NO) from L-arginine and oxygen, which leads to vascular relaxation by activating the guanylate cyclase. This finally induces smooth muscle relaxation. The aim of this study was to investigate the allelic frequency and the genotypic distribution of the variable number of tandem repeat 27 (27 VNTR) gene polymorphism in intron 4 of the eNOS (eNOS 4a/b) gene in Thrace region, to compare CAD patients with appropriate healthy controls and to correlate the genetic findings with CAD subtypes. The study group included 281 (153 subjects with CAD and 128 controls) patients. The eNOS polymorphism was identified with a polymerase chain reaction. Genotypes were defined as aa, ab and bb according to the presence of a and b alleles. In this case-control study, we found that there was sensible correlation between eNOS gene intron 4a/b VNTR polymorphism and the risk of CAD in Thrace region of Turkey. However, there was no major difference for the genotype distribution and the allelic frequency among the CAD subtypes. Further studies on the interaction of such genes are needed to clarify the association between eNOS 4a/b polymorphism and CAD patients.

Ancient nigella seeds from Boyali Höyük in north-central Turkey.

AIM OF THE STUDY: The seeds of nigella (black cumin) (Nigella sativa L.) have been widely used as a natural remedy, either alone or in combination with bee products, for the treatment of many acute as well as chronic conditions for centuries, especially in the Middle East and Southeast Asia. In consideration of potential utilization, in recent years the seeds have been extensively studied in terms of pharmacological effects. It has been shown that the seeds have significant effects on multiple biological systems. In addition, the protective roles of the seeds with bee products (honey and wax) have been recently proved. This study reports the palaeoethnobotanical find of nigella seeds recovered in a pilgrim flask from the Old Hittite Period level of Boyali Höyük (Mound), dating from around 1650 BC, in north-central Turkey. The study also deals with a comparison between the chemical properties of the Boyali Höyük nigella seeds (ancient seeds) and those of modern nigella seeds. The results of chemical analysis of the debris found in the pilgrim flask to test the presence of bee product are also presented here. MATERIALS AND METHODS: All macro-remains found in the pilgrim flask were first examined under a zoom stereomicroscope for specific determination and all were identified as nigella seeds using the reference collection of modern seeds. Ethyl alcohol and dichloromethane (Aldrich, Buch-Switzerland) were used for the extraction of the ancient seeds and modern nigella seeds to trace both polar and non-polar chemical compounds by a Gas Chromatography-Mass Spectrometer (GC-MS) system. Characterization of the chemical compounds in propolis extracts was also made by GC-MS. RESULTS: The GC-MS chromatograms showed that the ancient and modern seed samples were similar in essential oil acids. Many organic compounds of bee products, such as wax and phenolic antioxidants, were also detected in the container. CONCLUSION: The results of this study indicated that the Hittite pilgrim flask contained a pure cache of nigella seeds mixed with bee products, wax and propolis. There has been no direct archaeological evidence for medicinal use of nigella seeds with bee products by the inhabitants of Boyali Höyük or the Hittities so far. However, in view of the folkloric use of nigella seeds in combination with bee products for treatments of disorders and promotion of health, it is thought that the Boyali Höyük material would represent a remedy used by the Hittites in Anatolia about 3600 years ago.

A case report of prenatally diagnosed ophthalmo-acromelic syndrome type Waardenburg.

Ophthalmo-acromelic syndrome type Waardenburg is an extremely rare autosomal recessive syndrome comprising eye malformations ranging from true anophthalmia to mild microphthalmia with acromelic malformations. We report a case of ophthalmo-acromelic syndrome type Waardenburg diagnosed prenatally.

Common mutations at the homocysteine metabolism pathway and pediatric stroke.

Heterozygosity and/or homozygosity for mutations at the genes of the enzymes involved in homocysteine metabolism may confer an increased risk for thrombosis by causing hyperhomocysteinemia. Although the mutations related to homocysteine metabolism possibly increase the risk of stroke, the data are conflicting and there are very few reports linking these defects to acute stroke in children. We aimed to study the role of these mutations in Turkish children with ischemic stroke. Forty-six patients having cerebral infarct were clinically diagnosed, and the infarction verified with magnetic resonance imaging of the brain was included in the study. All patients were below the age of 18 (10 months to 18 years). Sixty-eight controls, consecutively selected among healthy unrelated subjects from the same geographic area of Turkey without personal and family history of thrombosis, stroke or Behest's disease, were included. Genotyping for the common mutations was carried out by the methods described previously. There was no difference between the pediatric stroke patients and controls for the distribution of methylene tetrahydrofolate reductase (MTHFR) 677 C-T, MTHFR 1298 A-C, methylene tetrahydrofolate dehydrogenase (MTHFD) 1958 G-A and methionine synthase reductase (MTRR) 66 A-G alleles. There was no risk for double gene alterations (MTHFR 677 C-T vs. 1298 A-C) after individuals with FV 1691 A mutation is excluded. Twelve of the 46 patients were found to carry FV 1691 A mutation (26.0%), one being homozygote. The cerebral infarct risk for FV 1691 A was found to be 6.4 (CI 95% 1.7-23.0). Eight of the 46 patients were found to carry PT 20210 A mutation (16.6%). Two of the FV 1691 A heterozygous patients carried PT 20210 A mutation at the same time (4.2%). As a conclusion, we can say that FV 1691 A and PT 20210 A mutations are important and must be included to the routine analysis of pediatric stroke patients.

The alpha2 Gene alleles of the platelet collagen receptor integrin alpha2 beta1 in Turkish children with cerebral infarct.

The possible role of point mutations in the platelet integrin alpha2 beta1 gene in Turkish children with ischemic stroke was evaluated in this study. The case-control study included 44 pediatric patients with cerebral infarct (age range, 10 months to 18 years) and 96 healthy unrelated individuals. Genotyping was performed according to previously described methods. Distribution of the three haplotypes were 36.4%, 45.3%, 10.4% and 31.8%, 50.0%, 13.6% for the controls and the patients, respectively. A new fourth haplotype was found which was 7.8% and 4.5% respectively. Our data indicated that these haplotypes are not risk factors in pediatric stroke group.

Factor V (His 1299 Arg) in young Turkish patients with cerebral infarct.

Inherited gene defects related to the coagulation system have been reported as risk factors for stroke. Recently, a genetic component in the factor V (FV) gene that contributes to activated protein C resistance both in the presence and absence of FV 1691 G-->A was reported. This highly conserved FV gene haplotype was marked as R2 polymorphism, an A to G alteration at position 4070 in exon 13 that predicts the His 1299 Arg substitutions. The aim of this study was to evaluate the role of this mutation in Turkish children with ischemic infarct. The case-control study included 48 patients with cerebral infarction; all were 18 years of age or younger (range: 10 months to 18 years). Ten (20.8%) of the 48 patients were found to carry the FV 1299 His-->Arg mutation, one being homozygous. One patient who had a combination of FV 1691 G-->A and protein C deficiency also carried the FV 4070A mutation. A homozygous FV 1299A patient had a prothrombin (PT) 20210A mutation in the heterozygous state. The cerebral infarct risk for FV 1299 was found to be 2.4 (95% confidence interval 0.9-6.8) for all groups. When underlying conditions were excluded, the incidence of FV 1299 was found to be 8/35 (22.8%), but the risk was almost the same. When two other common thrombophilic mutations (i.e. FV 1691 G-->A and PT 20210 G-->A) were excluded, the incidence of FV 4070 mutation increased to 7/21 (33.3%). The risk also increased to 3.9 (95% confidence interval 1.2-12.3).

Parvovirus B19 infection reminiscent of myelodysplastic syndrome in three children with chronic hemolytic anemia.

The authors have seen transient pancytopenia with erythroid hypoplasia and striking trilineage myelodysplasia reminiscent of true myelodysplastic syndrome (MDS) in 3 children, 1 with thalassemia intermedia and the other 2 with previously undiagnosed hereditary spherocytosis. In these 3 children transient pancytopenia and myelodysplasia coincided with serological evidence of acute parvovirus-B19 (PV-B19) infection, strongly suggesting their relevance. It is of interest that these 3 cases were encountered within a period of 6 months. This might be an incidental event, but it might also be concluded that acute PV-B19 infection associated transient pancytopenia with morphological appearance of MDS may occur more frequently than reported in the literature. So, PV-B19-associated nonclonal MDS should be considered in the differential diagnosis of true clonal MDS.

Inherited protein-C deficiency, factor V G 1691 A and FV A 4070 G mutations in a child with internal cerebral venous thrombosis.

Common systemic disorders that cause cerebral venous thrombosis (CVT) in children include dehydration, trauma, infection and haematological diseases. No cause for CVT is identified in one quarter of all cases. We report a child with thalamic infarcts due to internal CVT who had congenital heterozygous protein-C deficiency, factor V G 1691 A and A 4070 G mutations.

Factor V1691 G-A, prothrombin 20210 G-A, and methylenetetrahydrofolate reductase 677 C-T variants in Turkish children with cerebral infarct.

Inherited gene defects related to the coagulation system have been reported as risk factors for ischemic stroke. These gene defects include a G-A transition at nucleotide 1691 in exon 10 of the Factor V gene causing activated protein C resistance; a G-A transition in the 3' untranslated region of the prothrombin gene at nucleotide position 20210 (G-A), which is associated with increased levels of prothrombin activity; and a C-T polymorphism at nucleotide 677 in the methylenetetrahydrofolate reductase gene responsible for an alanine to valine substitution, resulting in the synthesis of a thermolabile form of methylenetetrahydrofolate reductase that causes increased levels of homocysteine. The case-control study included 28 patients with cerebral infarction; all were 18 years of age or younger (range, 10 months to 18 years). Seven (25%) of the 28 patients were heterozygous for the FV1691 mutation. Five (17.8%) of the patients carried the PT20210A mutation. Two (7.1%) of the patients carried both mutations. When compared to controls, the difference was significant for both mutations (P = .007; .04). The frequency of allele T of methylenetetrahydrofolate reductase 677 was 0.3214, which was not significant when compared to controls (0.231; P = .3). A total of 12 (42.8%) patients carried one or both of the mutations FV1691 G-A and PT20210 G-A. From our data, it appears that FV1691 G-A and PT20210 G-A are associated with cerebral infarct risk independently. Risk assessment of double prothrombotic gene alterations did not reveal synergy between these mutations. In conclusion, the presence of FV1691 A and PT20210 A mutations but not the methylenetetrahydrofolate reductase 677 TT mutation correlate with the occurrence of cerebral infarction in children.

Evaluation of cardiac functions in patients with thalassemia major.

It is known that a blood transfusion is necessary for survival in patients with thalassemia, but it may cause myocardial dysfunction due to myocardial siderosis as in other organs. The aim of this study was to evaluate myocardial perfusion by means of stress thallium scanning (MPS) and left ventricular functions by rest radionuclide ventriculography (RNV). Twenty-one patients at ages 9-16 (mean 12.1 +/- 3.2) who have been diagnosed with thalassemia for 4-15 years (mean 12.7 +/- 4.8) were included in the study. They had blood transfusions 78-318 times (mean 162.1 +/- 71). MPS and RNV was performed within two days after the any transfusion. MPS showed ischemia in 3 patients and normal perfusion in 18 patients. RNV revealed normal systolic parameters (wall motion, EF, PER, TPE) but diminished diastolic parameters (TPF, PFR) compared with normal values (p < 0.05). We conclude that ischemia or fixed defects may be seen in stress MPS as a result of cardiac involvement in patients with thalassemia. But, RNV is an important and preferable test for the early detection of subclinic cardiomyopathy. RNV may therefore show diastolic abnormalities before the systolic abnormalities show up.