Validation of the SF-36 in patients with endometriosis.

OBJECTIVES: Endometriosis presents with significant pain as the most common symptom. Generic health measures can allow comparisons across diseases or populations. However, the Medical Outcomes Study Short Form 36 (SF-36) has not been validated for this disease. The goal of this study was to validate the SF-36 (version 2) for endometriosis. METHODS: Using data from two clinical trials (N = 252 and 198) of treatment for endometriosis, a full complement of psychometric analyses was performed. Additional instruments included a pain visual analog scale (VAS); a physician-completed questionnaire based on patient interview (modified Biberoglu and Behrman--B&B); clinical global impression of change (CGI-C); and patient satisfaction with treatment. RESULTS: Bodily pain (BP) and the Physical Component Summary Score (PCS) were correlated with the pain VAS at baseline and over time and the B&B at baseline and end of study. In addition, those who had the greatest change in BP and PCS also reported the greatest change on CGI-C and patient satisfaction with treatment. Other subscales showed smaller, but significant, correlations with change in the pain VAS, CGI-C, and patient satisfaction with treatment. CONCLUSIONS: The SF-36--particularly BP and the PCS--appears to be a valid and responsive measure for endometriosis and its treatment

Bone mineral density in patients with endogenous subclinical hyperthyroidism

The aim of our study was to elucidate whether endogenous subclinical hyperthyroidism due to an autonomously functioning thyroid nodule affects bone metabolism and is a risk factor for osteoporosis and if so, whether it differs according to sex and menopausal status. In this cross-sectional study measurements of bone mineral density (BMD) were performed in 9 premenopausal, 12 post-menopausal women and it 7 men who had all endogenous subclinical hyperthyroidism due to an autonomously functioning thyroid nodule. Neither of them had a past history of hyperthyroidism not had been treated for any thyroid disorder. All of them were euthryroid by clinical and laboratory evaluation. They had single or multiple solid nodules or ultrasound and single or multiple autonomous (suppressing the surrounding tissue) nodules or scintigraphy. Lumbar spine BMD was measured by quantitative computerized tomography. The levels of triiodothyronine (T3), tetraiodothyronine (T4), free T3 (fT3), free T4 (fT4), thyrotropin (TSH), parathyroid hormone (PTH), serum calcium (Ca), alkaline phosphatase (ALP), cholesterol, ferritin, osteocalcin (OC) and urine calcium-creatinine ratios were determined. The results were compared with the age and sex matched controls in each subgroup (premenopausal, post-menopausal females and males). Bone mineral density of premenopausal females did not show any difference in comparison with age and sex matched controls. It was found to be significantly (p < 0.05) lower in post-menopausal females and insignificantly low in males when compared with age and sex matched controls. A statistically significant increase was found in OC levels in each of the three subgroup when compared with controls (p < 0.05). In conclusion, the results of our study revealed that endogenous subclinical hyperthyroidism due to an autonomously functioning thyroid nodule may affect bone metabolism and may be an additional risk factor for osteoporosis especially in post-menopausal females

Plasma selenium and urinary iodine in patients with goiter

Objective: Iodine deficiency and related disorders are still major public health problems, with a high prevalence of endemic goiter in many regions of Turkey. In addition to measuring iodine excretion rates in patients with diffuse or nodular goiter, we examined plasma selenium concentrations, to see whether selenium deficiency might be related to goiterogenesis in our region. Methods: Seventy-two outpatients with goiter (67 female, 5 male; age 43.7 +/- 13.0 years) presenting consecutively to our university medical center endocrinology clinic, were included in the study group. The control group consisted of 30 subjects (25 female, 5 male; age 40.6 +/- 13.6 years) who were healthy and did not have any known thyroid disease. None of the subjects were using medications containing selenium or iodine. Serum thyroid hormones, plasma selenium and urinary iodine levels were measured, and an ultrasound of the thyroid was performed in both groups. Results: Serum thyroid hormone levels were in the normal range in both groups and the difference was not significant. Mean plasma selenium levels in the study and control groups were not significantly different (p = 0.30). However, urinary iodine excretion was significantly lower in the study group (17.4 +/- 12.6 mug/l vs 23.2 +/- 12.2 mug/l, p = 0.03). In both study and control group patients, a significant negative correlation between thyroid volume and urinary iodine levels was observed. Conclusion: Moderate to severe iodine deficiency is the primary etiologic factor for endemic goiter in our region. Plasma selenium levels were not related to the presence or absence of goiter in our population

Bone mineral density and biochemical markers of bone in patients with idiopathic hypercalciuria

In this study, we determined the prevalence of idiopathic hypercalciuria (IH) in patients with renal lithiasis, and measured the bone mineral density (BMD) and biochemical markers of bone metabolism in patients with IH. Among 85 consecutive patients with urolithiasis (40 men, 30 postmenopausal and 15 premenopausal women), hypercalciuria (urinary calcium excretion >4 mg/kg per day) was observed in 22 (11 men, 8 postmenopausal and 3 premenopausal women). These 22 patients were then classified as having absorptive or fasting hypercalciuria. In 19 of the 22 hypercalciuric patients (I I men and 8 postmenopausal women), BMD was measured by dual-energy x-ray absorptiometry and serum levels of calcium, alkaline phosphatase, parathyroid hormone, osteocalcin (OC), and urinary deoxypyridinoline (DPD) were determined. When compared with age- and sex-matched control subjects (volunteers from hospital personnel), OC and urinary DPD levels were significantly higher in the renal lithiasis patients when compared with control subjects. Ward's triangle BMD in women and lumbar BMD in men were significantly lower when compared with sex- and age-matched control subjects. Lumbar, Ward's triangle, and femoral neck BMD measurements were inversely correlated with the duration of renal lithiasis in male patients. Males also had a significant negative correlation between lumbar BMD and the urinary DPD. BMD decreases significantly in male and postmenopausal female patients with IH. Patients with renal lithiasis should be evaluated for IH, and those with IH should be screened for osteoporosis. Studies determining the clinical and lifestyle consequences of IH and its related osteoporosis should be performed

Severe infantile hypotonia with ethylmalonic aciduria: Case report

An 8-month-old girl was admitted to an outpatient clinic with significant hypotonia and weakness. Organic acid analysis in urine revealed a significant increase in ethylmalonic acid. A deoxyribonucleic analysis revealed the presence of a 625G>A (G-to-A substitution at nucleotide 625) variant short-chain acyl-coenzyme A dehydrogenase gene polymorphism. With the clinical, biochemical and molecular findings, short-chain acyl-coenzyme A dehydrogenase deficiency was suspected. Because 625G>A and 511C>T (C-to-T substitution at nucleotide 511) genetic variations are also present in 14% of the general population, these are considered to be genetic sensitivity variations rather than causing a disease themselves and to result in possible short-chain acyl-coenzyme A dehydrogenase deficiency in the presence of environmental factors such as fever and hunger as well as cellular, biochemical, and other genetic factors. It was stressed that severe infantile hypotonia could also be the only manifestation of ethylmalonic aciduria spectrum disorders. \ua9 2008 Sage Publication

A 7-YEAR-OLD BOY WITH HAND TREMORS AND A NOVEL MUTATION FOR L-2-HYDROXYGLUTARIC ACIDURIA

L-2-hydroxyglutaric aciduria (L2HGA), which is a rare autosomal recessive metabolic disorder caused by mutations in the encoding L2HGDH gene. Neurological symptoms are the main predominant clinical signs. The distinctive feature is the specific multifocal lesion of the white matter detected on magnetic resonance imaging (MRI). A 7-year-old male patient of Turkish origin was admitted to the hospital because of hand tremors. Physical examination revealed macrocephaly, intention tremors, walking disability and ataxic gait. Urine organic acid analysis showed increased excretion of L-2-hydroxyglutaric acid (L2HG acid). Analysis of the L2HGDH gene revealed a novel homozygous c.368A>G, p. (Tyr123Cys) mutation. L-2-hydroxyglutaric aciduria is a cerebral organic aciduria that may lead to various neurological complications. Early recognition of symptoms of L2HGA is important for initiation of supportive therapy that may slow down the progression of the disease

Correlation between serum lipoprotein(a) and angiographic coronary artery disease in non-insulin-dependent diabetes mellitus.

Objectives, To examine the impact of diabetic state on the concentrations of lipoprotein(a) [Lp(a)] in patients with non-insulin-dependent diabetes mellitus (NIDDM) and the correlation between angiographic coronary artery disease (CAD) and serum Lp(a) concentrations in NIDDM