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ABSTRACT: The aim of the present study was to evaluate the relations between T(-786)C and Glu298Asp polymorphisms of the endothelial nitric oxide synthase (eNOS) gene and BMD in postmenopausal Turkish women.
The T(-786)C and Glu298Asp polymorphisms were genotyped by PCR-RFLP method in 311 postmenopausal osteoporotic women (OP) and in 305 age-matched postmenopausal females (CG) with normal BMD.
None of the SNPs of the eNOS gene was significantly associated with BMD at the lumbar spine, femoral neck, Ward's triangle and femoral trochanter in the combined group. Mean BMD values were therefore found to be similar across the genotypes in postmenopausal Turkish women. However, there was a significant association between the T(-786)C polymorphism and BMD values at the lumbar spine in the normal control group (P=0.005), and at the femoral trochanter in the osteoporotic patients (P=0.046). The mean value of the lumbar spine BMD in the normal controls was significantly higher in women with the TC genotype of the T(-786)C polymorphism than in women with the TT genotype (P=0.0012). Women with the CC genotype of the T(-786)C polymorphism in the osteoporotic patients had significantly higher BMD value at the femoral trochanter than those with the TC (P=0.018) and TT genotypes (P=0.024). Frequencies of the TC heterozygotes for T(-786)C polymorphism were significantly higher among osteoporotic subjects than normal controls. Also, the CC and TT genotype frequencies of control group were significantly higher than those of the osteoporotic group at the femoral neck.
We conclude that, although the biological role of the nitric oxide synthases is well established, our study does not suggest that eNOS gene polymorphisms, T(-786)C and Glu298Asp, are major contributors to adult bone mineral density in the postmenopausal Turkish women.
Maturitas 07/2009; 63(4):352-6. · 2.77 Impact Factor
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ABSTRACT: The aim of the study was to examine whether the TGF-beta1 T(861-20)-C gene polymorphism might be useful in identifying individuals with increased susceptibility to postmenopausal bone loss within the Turkish women population. T(861-20)-C polymorphism was genotyped in 616 postmenopausal women selected from the Turkish population: 311 postmenopausal osteoporotic women (OP) aged 45-65 years (mean age 58 years) and a control group (CG) of 305 postmenopausal women in the same age range (mean age 53 years) with normal bone mineral density. We have not found any significant differences in the frequency of the individual genotypes between the osteoporotic and control groups. The distribution of the T(861-20)-C genotypes was for Lumbar spine, CC, 74.0% in OP, 75.1% in CG; TC, 24.1% in OP, 23.9% in CG; TT, 1.9% in OP, 1.0% in CG; and for femoral neck, CC, 76.8% in OP, 72.8% in CG; TC, 22.1% in OP, 25.5% in CG; TT 1.1% in OP, 1.7% in CG. T(861-20)-C polymorphism was not found to be associated with bone mineral density in postmenopausal Turkish women. It was argued that this will be a pioneering study for the future research and therapies.
Genetic Testing and Molecular Biomarkers 06/2009; 13(3):349-53. · 1.11 Impact Factor
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ABSTRACT: Mucopolysaccharidosis (MPS) type I is an inherited disease caused by the absence or malfunctioning of lysosomal enzymes. Three subtypes, based on severity of symptoms, were described, and Scheie syndrome (also called MPS I S) is the mildest form. Although there may be some typical extra-articular manifestations, musculoskeletal involvement may be the only presenting sign in the absence of other symptoms in the patients with less severe forms. The patients with MPS I S, especially in attenuated phenotypes, may be sometimes difficult to recognize for physicians not familiar with the disease. With this case presentation, it is aimed to draw attention to this disease, which could be delayed for the correct diagnosis. An increased awareness of the disease may contribute to more accurate diagnosis, and patients may benefit from early intervention.
Clinical Rheumatology 12/2007; 26(11):1937-9. · 2.00 Impact Factor
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ABSTRACT: Obese individuals are frequently hyperleptinemic and insulin resistant. Chronic exercise is associated with improvements in plasma leptin level and insulin sensitivity; however, little is known about the acute effect of exercise on these parameters. The aim of this study was to evaluate the acute effect of aerobic exercise on plasma leptin and insulin sensitivity in obese women with stable caloric intake. Patients and Methods: Twenty-three obese women (age 41.2 +/- 10.3 years, body mass index 40.7 +/- 6.7 kg/m2) were included to the study. All subjects were admitted to an exercise program (45-minute walking sessions at 60-80% of maximum heart rate) every day except weekends for four weeks (total 20 exercise sessions). Insulin resistance was evaluated by HOMA model. Plasma glucose, insulin and leptin levels were determined at baseline and at the end of the first, seventh, and twentieth exercise session. RESULTS: Baseline and at the end of the first, seventh, and twentieth exercise session plasma leptin levels were 59.1 +/- 20.1, 58.5 +/- 21.0, 53.4 +/- 21.9, and 51.2 +/- 20.5 ng/ml and HOMA-r were 2.75 +/- 1.47, 1.77 +/- 0.71, 1.73 +/- 0.89, 1.62 +/- 0. 70, respectively. Compared to baseline, at the end of the seventh (p = 0.021) and twentieth exercise session (p = 0.003), plasma leptin levels were significantly low. Plasma leptin level did not change significantly at the end of the first exercise session (p > 0.05). At the end of the first exercise session (p = 0.005), end of the seventh (p = 0.003) and twentieth exercise session (p = 0.007) HOMA-r was lower than baseline. There was no correlation between weight loss during exercise period and the change of leptin, and HOMA-r. Fasting plasma glucose, insulin and leptin levels were determined at baseline and at the end of the first, seventh, and twentieth exercise session. CONCLUSION: Our study suggests that acute exercise decreases insulin resistance at the first exercise session with no effect on leptin levels. Significant leptin decrement was evident at the first week and lasted during the entire four weeks exercise session.
Endocrine Research 01/2007; 32(1-2):9-17. · 0.97 Impact Factor
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ABSTRACT: We describe a 44-year-old woman with an 18-year-history of Behçet's disease (BD) in whom heterotopic ossification (HO) developed as a complication of toxic epidermal necrolysis (TEN). The patient presented with high fever, a progressive erythematous rash including target-like lesions, flaccid blister formations, and severe detachment. The patient was diagnosed with TEN, and methylprednisolone therapy was started. In the 2nd month of her hospital course, painful limitation developed in both her elbow and shoulder joints. Laboratory and radiographic findings confirmed HO of these areas. BD associated with TEN and HO is a previously unreported entity. In such a condition, determination of underlying genetic abnormality is important. Additionally, HO should be considered as a potential cause of the symptoms related to the joints.
The Journal of Dermatology 07/2005; 32(6):469-73. · 1.49 Impact Factor
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ABSTRACT: Comparatively few prospective studies have investigated the relationship between physical activity and gallbladder motility, and the results are controversial. Exercise may affect gallbladder motility via neural or hormonal mechanisms. The purpose of this study was to evaluate the possible effects of aerobic exercise on gallbladder motility in a group of obese women without gallstones.
Twenty-three obese women (age 41.2+/-10.3 years, body mass index 40.7+/-6.7 kg/m(2)) were included in the study. Following an overnight fast, fasting and postprandial (15, 30, 45, 60, 75, 90, 120, and 150 minute) volumes and ejection fractions were evaluated with real-time ultrasonography before exercise. For all subjects, the exercise regimen consisted of daily 45-minute walking sessions at 60-80% of maximum heart rate for 4 weeks except weekends. Gallbladder volume and ejection fraction were again evaluated after exercise.
Fasting and postprandial (15, 30, 45, 60, 75, 90, 120, and 150 minute) volumes were 38.6+/- 10.9, 32.8+/- 8.8, 27.6/- 8.1, 22.7+/- 8.5, 21.4+/- 7.2, 20.8+/- 7.0, 22.8+/- 7.3, 29.6 +/- 7.0, and 36.8+/- 6.2 cm(3) before the exercise period, respectively, and 40.8+/- 18.9, 29.9+/-11.2, 25.3+/- 9.2, 22.4+/-8.5, 19.6+/-7.8, 17.7+/- 6.8, 17.8+/- 7.3, 23.1+/-10.8, and 29.0+/-14.4 cm(3) after the exercise period, respectively. Postprandial (15, 30, 45, 60, 75, 90, 120, and 150 minute) ejection fractions were 13.5+/-15.9, 27.4+/-15.4, 39.5+/-20.0, 43.2+/-16.7, 44.3+/-17.3, 37.5 +/- 23.5, 23.5 +/-25.1, and 5.5+/- 21.6% before the exercise period, respectively, and 22.6+/- 20.1, 34.6+/-14.5, 42.0+/-13.6, 49.2+/-12.6, 53.1+/-14.1, 52.6+/-16.1, 43.6+/-17.0, and 29.2+/- 26.5% after exercise, respectively. After the exercise period, the 75, 90, 120, and 150 minute volumes were lower (p< 0.05, p< 0.05, p< 0.05, p< 0.01) and the 90, 120, and 150 minute ejection fractions were higher than before exercise (p< 0.05, p < 0.05, p< 0.01).
Our study showed that exercise decreased late-phase postprandial gallbladder volume and increased late-phase postprandial gallbladder motility in these obese women.
Journal of Clinical Ultrasound 06/2005; 33(5):218-22. · 0.81 Impact Factor
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ABSTRACT: Thyroid dysfunction may cause musculoskeletal symptoms. We have evaluated the prevalence of adhesive capsulitis, Dupuytren's contracture, trigger finger, limited joint mobility and carpal tunnel syndrome in a series of patients with various thyroid diseases and differing levels of function.
Patients with euthyroid (diffuse and/or nodular) goitre, Hashimoto's thyroiditis, Graves' disease, toxic nodular goitre, toxic diffuse goitre and patients with goitre who had partial thyroidectomy were included in the study (n = 137). Neurological and musculoskeletal examinations were performed after a standardized symptom questionnaire. The prevalence of musculoskeletal problems was analysed with respect to thyroid function and thyroid autoantibody status.
Serum concentrations of free T3, free T4, TSH and thyroglobulin and thyroperoxidase antibodies were determined. Serum levels of creatine kinase, lactate dehydrogenase, calcium and phosphate along with erythrocyte sedimentation rate were measured to exclude other causes of musculoskeletal complaints.
When the study group (n = 137) was divided according to thyroid status, 30.6% (n = 42) were thyrotoxic, 16.8% (n = 23) had subclinical thyrotoxicosis, 28.5% (n = 39) were euthyroid, 7.3% (n = 10) had subclinical hypothyroidism and 16.8% (n = 23) were hypothyroid. Overall, adhesive capsulitis was found in 10.9% (n = 15), Dupuytren's contracture in 8.8% (n = 12), limited joint mobility in 4.4% (n = 6), trigger finger in 2.9% (n = 4) and carpal tunnel syndrome in 9.5% (n = 13) of the patients. The prevalence of adhesive capsulitis was highest in patients with subclinical thyrotoxicosis (17.4%); Dupuytren's contracture, limited joint mobility and carpal tunnel syndrome were commonest in hypothyroid patients (21.7%, 8.7% and 30.4%, respectively). Trigger finger occurred in 10% of patients with subclinical hypothyroidism. When these prevalences were analysed with respect to thyroid status, carpal tunnel syndrome was significantly more prevalent in the hypothyroid group (P = 0.004). When thyroperoxidase antibody-positive and -negative patients were compared, adhesive capsulitis negatively (P = 0.03, r =-0.18) and trigger finger positively correlated with (P = 0.03, r = 0.21) thyroperoxidase antibody existence.
These results demonstrate that musculoskeletal disorders often accompany thyroid dysfunction. In addition to the well-known observation that these disorders are common in patients with hypothyroidism, they are also observed in patients with thyrotoxicosis. Patients with thyroid dysfunction should be questioned for musculoskeletal complaints and referred to a specialist if necessary.
Clinical Endocrinology 09/2003; 59(2):162-7. · 3.17 Impact Factor
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ABSTRACT: Acromegaly is a chronic and slowly developing endocrinopathy caused by hypersecretion of growth hormone and consequently of insulin like growth factor-1. The arthropathy in acromegaly can affect both axial and peripheral joints and it may present as the earliest clinical symptom of the disease. Patients with acromegaly may have high prevalence of joint related comorbidity and a reduced self perceived quality of life. An early diagnosis is crucial to obtaining the optimal treatment due to the potential reversibility of the lesions in an early stage. The aim of this case report is to draw attention to the possible articular involvement of acromegaly.
Acta reumatologica portuguesa 33(3):357-9. · 0.55 Impact Factor
