CER 1 gene polymorphism in postmenopausal Roma and non-Roma Slovak women in connection with osteoporosis.

OBJECTIVE: The aim of our study was to investigate the relationship between the rs74434454 polymorphism of the CER1 gene and selected biochemical, densitometric and anthropometric markers in Slovak postmenopausal women of two ethnic groups: Roma and non-Roma. SUBJECTS AND METHODS: The scientific study included 303 postmenopausal women of the non-Roma and Roma populations who were divided into two groups based on densitometric measurements: control group (CG) and osteoporotic group (OG). Genomic DNA was isolated from peripheral blood using a commercial NucleoSpin® Blood kit following a standard protocol. The TaqMan Real-Time PCR method was used for genotyping. Biochemical markers were measured with Cobas e411 and Cobas Integra400 plus analysers. RESULTS: In the control group of postmenopausal Roma women, the occurrence of the risk genotype GG was not observed. In the group of Roma women with osteopenia and osteoporosis, the GG genotype occurred at a frequency of 3.03%. In the group of non-Roma women (between CG and OG) statistically significant differences were found in all monitored biochemical markers except CTx-I (p<0.66). In contrast, in the group of Roma women, statistical significance was only found in the osteoresorption marker CTx-I (p<0.007). In the population of Roma women, we did not find a statistically significant difference between the AA, AG and GG genotypes in any of the monitored markers. CONCLUSIONS: The results provide the first and unique insight on the distribution of genotypes and alleles of the rs74434454 CER1 gene polymorphism and its relationship to markers of bone metabolism in two ethnically distinct groups.

Preliminary results of ethnic divergence of G1181C (rs2073618) and C290T (rs9525641) OPG gene polymorphisms in groups of postmenopausal Slovak women.

OBJECTIVE: In this study, we focused on observation of the genetic polymorphisms of the OPG genes G1181C (rs2073618) and C290T (rs9525641), their interactions with biochemical markers and anthropometric parameters in groups of postmenopausal Slovak women (Roma and non-Roma, n = 311). PATIENTS AND METHODS: Genomic DNA was extracted and purified from peripheral blood leukocytes by the kit Ultraclean® Blood non-spin® (Carlsbad, CA, USA) using a standard protocol. Genotyping was performed by the TaqMan SNP genotyping assay. Biochemical markers were measured by the Cobas e411 (Roche Diagnostic, Tokyo, Japan) and Cobas Integra400 plus (Roche Diagnostic, Rotkreuz, Switzerland) analysers. RESULTS: We recorded a higher frequency of the T allele in the C290T polymorphism of the non-Roma control group (53.846%), in Roma groups: control (T - 56.618%) osteoporotic (T - 51.471%). In the G1181C polymorphism, the CC genotype occurred more in the osteoporotic group (34.286%) compared to the control group (27.885%). In the group of postmenopausal Roma women, a statistically significant difference (p<0.05) was found between osteoporotic and control in the biochemical parameters' osteocalcin, C-terminal telopeptide I, and age. Statistically significant differences (p<0.0001) were also found in bone mineral density and T-score. The high odds ratio suggests the association of G1181C with osteoporosis. A close relationship was found between haplotypes, BMD, T-score, and IL-6 in control; and BMI, WHR, T-score, and osteocalcin in osteoporotic groups of Roma and non-Roma women. CONCLUSIONS: The results point to differences in the occurrence of genotypes and associations of haplotypes with the manifestation of osteoporosis in Roma and non-Roma women. However, a larger number of samples is needed to determine whether or not there are differences between the Roma and non-Roma populations.

Differential Urinary Proteomic Analysis of Endometrial Cancer.

Endometrial cancer is one of the most frequent gynecological malignancies present in more than 95 % of all uterine cancers. In spite of that, screening of such disease is not commonly performed in clinical practice due to enormous costs and relatively low sensitivity. Therefore, developing an effective screening test to diagnose endometrial cancer at early stages is of great importance for the clinical area of investigation. In this work, we applied urinary proteomics (i.e., bottom-up proteomic approach followed by nano HPLC-ESI-MS/MS) in patients with endometrial cancer, with respect to find proteins aimed for the early diagnostics and screening. According to the results, the significant semi-quantitative changes were observed in urinary proteome of treated patients. The proteins that may be pivotal in pathogenesis of endometrial cancer, like cadherin-1 (CDH1), vitronectin (VTN) and basement membrane specific-heparan sulphate proteoglycan core protein (HSPG2) were down-regulated, when compared to the control group. Ultimately, it can be stated that urinary proteomics has a potential for the searching of cancer protein biomarkers based on their altered concentration.

Severe limb necrosis: primary thrombotic microangiopathy or "seronegative" catastrophic antiphospholipid syndrome? A diagnostic dilemma.

An episode of gastroenteritis triggered severe necrosis of all extremities in a previously asymptomatic male. Hepatic and renal involvement were also manifest, while the hematological picture was one of thrombotic microangiopathic hemolytic anemia. Antiphospholipid antibodies were negative. He responded well to a combination of plasma exchange, anticoagulation (heparin), parenteral steroids, and antibiotics, as well as vasodilators (prostacycline) and hyperbaric oxygen, but died because of a cerebral hemorrhage. The differential diagnosis included thrombotic thrombocytopenic purpura/hemolytic-uremic syndrome, or seronegative catastrophic antiphospholipid (Asherson's) syndrome. The dangers of administering such a combination of therapies with anticoagulation, as well as vasodilatation (prostacycline) and hyperbaric oxygen, are highlighted by the case report and emphasized.

[Nitrate contaminated drinking water from private wells has an impact on the size and functional state of the thyroid gland in schoolchildren]. / Nitrátmi kontaminovaná pitná voda z domácich studní ovplyvnuje vel'kost' a funkcný stav stítnej zl'azy u skolopovinných detí.

UNLABELLED: The authors compared the size of the thyroid gland, assessed by ultrasonographic examination of its volume and the functional state of the thyroid by examination of the serum level of TSH and anti-TPO antibodies in 492 pupils aged 10 and 13 years in two close agricultural areas. The areas differed above all as to the nitrate content of drinking water. In communities where the source of drinking water were private wells (nitrate area), as much as 68.1% of the water samples had a nitrate content > 50 mg/l and 46.4% samples > 100 mg/l. In communities where the source of drinking water was a water main with a known source (control area) the water samples did not exceed 50 mg/l (73.7% > 15 mg/l and 26.3% > 50 mg/l. RESULTS: Pupils from the nitrate area had a larger thyroid gland similarly as older pupils from the control area. A volume above 7 ml/m2 in the nitrate area was recorded in the group of 10-year olds in 25/99 (27.7%) and in the group of 13-year-old ones in 33/154 (21.4%), while in the control area it was in the 10-year-old ones 11/92 (11.9%) and in the 13-year-old ones 16/156 (10.2%, P < or = 0.01). In the nitrate area TSH > 5 mIU/l was recorded in 5.6% and higher anti-TPO antibodies in 2.6% pupils. In the control area the corresponding figure was 1.1% pupils, P < or = 0.01.

Contribution of thyroid gland ultrasound for screening of patients with suspected subclinical thyroid gland disorders.

Thyroid gland ultrasonography is recommended in patients with nonspecific clinical symptoms such as fatigue, weight gain, dry skin, amnesic symptoms, depression, bradycardia, abnormal myocardial contractility, increased diastolic pressure, hypercholesterolemia, menstrual abnormalities, infertility, fibrocystic breast disease, anxiety, insomnia, tachycardia, paroxysmal atrial fibrillation and osteoporosis. Subclinical hypothyroidism or hyperthyroidism can cause any of the above mentioned symptoms. Diffusely decreased, decreased and inhomogenous thyroid gland echogenicity requires laboratory examination. Thyroid gland ultrasonography is recommended also in patients with type I. diabetes mellitus and vitiligo because of increased incidence of thyroid disorders in these patients. Clinical observation of patients treated with Lithium, Amiodaron or Interferon is also recommended. (Tab. 2, Fig. 6, Ref. 18.)

T-system membranes in microsomal fractions of crayfish muscles: identification and differences in protein composition.

Specific binding of 3H-ouabain and ruthenium red (RR) to membranes of T-tubules in crayfish muscles was used to identify the subfraction containing vesicles originating from the T-system. The microsomal fraction was prepared by differential centrifugation, and subfractions were separated in continuous or discontinuous sucrose density gradients. 3H-ouabain binding was estimated by scintillation counting; RR binding was examined by electron microscopy. The light subfraction was identified using both methods as that containing vesicles of T-tubules. Protein separation by SDS-electrophoresis revealed marked differences between the subfraction containing vesicles of T-tubules and other subfractions, the most distinctive feature being the presence of a protein of Mr 46,000 predominantly in the light subfraction.