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Aim: The objective of this study was to investigate sex-specific differences existing on the way from (abdominal) obesity and metabolic syndrome (MS) to type 2 diabetes mellitus (DM) and cardiovascular disease (CVD)., Methods: A population sample of 1974 men and women, representative of Turkish adults (mean age, 48 years), with normal glucose metabolism (GM) and free of CVD at baseline, was prospectively evaluated at a mean 4.1 years of follow-up. The term abnormal GM designated both DM and impaired fasting glucose (IFG). Metabolic syndrome was identified in 29% of men and 40% of women by the criteria of the National Cholesterol Education Program guidelines. Fatal and nonfatal CVD, diagnosed by clinical findings and Minnesota coding of resting electrocardiograms, developed in 121 subjects., Results: The cohort was dichotomized by the presence or absence of MS and of obesity defined by a body mass index of 30 kg/m 2 or greater. Compared with the major female group with no obesity or MS, women with MS, regardless of the presence of obesity, predicted highly significantly the development of abnormal GM with relative risks exceeding 2, whereas no independent significant association was noted in men with MS. Similar divergence of sexes pertained to the prediction of diabetes. When age, smoking status, grade of physical activity, IFG, DM, and the 4 groups with obesity and MS were analyzed for the prediction of CVD by logistic regression, men with MS, regardless of the presence of obesity, predicted highly significantly CVD (with relative risks ranging from 2 to 4), but neither DM nor IFG contributed independently. Conversely, in women, abnormal GM predicted CVD independent of age, smoking status, and grade of physical activity, but the groups with obesity and MS failed to significantly contribute independently., Conclusions: In populations with prevalent MS, whereas women with normal GM are prone to DM within the context of MS and are exposed to CVD risk primarily by way of DM, men are prone to visceral adiposity, less susceptible to DM, and run CVD risk primarily by the intermediary of MS, largely independent of the DM component.

Background: The prevalence, features, and risk of cardiovascular disease (CVD) in dyslipidemic hypertension (DH) was investigated in a prospective population-based study. Dyslipidemic hypertension was defined in terms of blood pressure, plasma triglycerides, and HDL-cholesterol consistent with the metabolic syndrome criteria of the National Cholesterol Education Program guidelines. High-normal or hypertensive values not meeting the other two criteria were designated as "simple hypertensives" (SH)., Methods: A sample of 2225 men and women and free of CVD at baseline were followed up for a mean of 4.1 years. The proportions of DH, SH, and normotensives were 16%, 37%, and 47%, respectively. All persons with DH had metabolic syndrome by definition, whereas metabolic syndrome formed 44.6% of SH. Fatal and nonfatal CVD, diagnosed by clinical findings and Minnesota coding of resting electrocardiograms, developed in 166 subjects., Results: Compared to SH, sex- and age-standardized individuals with DH had significantly higher body mass index, apolipoprotein B, fasting insulin, glucose, and C-reactive protein levels, had higher prevalence of impaired fasting glucose and metabolic syndrome. Cox regression analysis revealed a 1.57-fold higher (confidence interval 1.08-2.28) hazard ratio (HR) for CVD in DH than in SH, after adjustment for sex, age, LDL-cholesterol, and smoking status. The sex- and age-adjusted HR of DH was furthermore 1.45-fold higher than the remaining subjects with metabolic syndrome (P = .096). Among persons with DH, age, presence of diabetes, and pulse pressure proved to be independent predictors for CVD. High LDL-cholesterol levels and fasting hyperinsulinemia were associated with borderline significantly elevated relative risks among dyslipidemic hypertensives., Conclusions: Dyslipidemic hypertension, prevailing in 1 of every 6 adults, implicates characteristic features, confers excess CVD risk compared to the remainder of hypertensives and carries half the attributable cardiovascular risk due to metabolic syndrome.

Objective: The deletion (D) allele of the angiotensin-converting enzyme (ACE) gene has been proposed as a genetic marker of the risk of coronary artery disease (CAD). In this study we aimed to determine the relevance of ACE gene polymorphism for coronary artery disease in the South-Eastern Anatolian population., Methods: Angiotensin converting enzyme genotypes were determined in 133 CAD patients who underwent coronary angiography. Severity of CAD was subgrouped according to the number of stenotic vessels on coronary angiography. The control group was selected from 154 healthy volunteers. Angiotensin converting enzyme genotypes were determined by agarose gel sizing after polymerase chain reaction (PCR) amplification., Results: Frequency of ACE DD genotype did not differ between patients with CAD and control subjects. However the ACE II genotype in CAD group was significantly less frequent than in control group (p=0.02). The relative risks were 0.9 (95% CI=0.56-1.43) for the DD genotypes, and 2.2 (95% CI=1.09 - 4.11) for the II genotype. In the 2-vessel CAD subgroups, the II genotypes were significantly different from control group., Conclusion: Our study did not confirm the possibility that the ACE DD genotypes may be associated with predisposition to CAD in this certain population but there is a relationship between the least frequencies of the II genotype and CAD. The II genotype seems to be an independent protective factor for CAD in the South-Eastern Anatolian population.

Brachydactyly type C (BDC) is characterized by shortening of the middle phalanges of the index, middle, and little finger with hyperphalangy, usually of the index and middle finger. Heterozygous mutations of the cartilage derived morphogenetic protein-1 (CDMP1) resulting in a loss of function have been reported in BDC. We here describe a large kindred with a semi-dominant form of BDC and pronounced ulnar deviation of the second and third digits. In this family a novel homozygous missense mutation was identified (517A > G) changing methionine to valine at amino acid position 173. The mutation is located within a highly conserved seven amino acid region of the prodomain of CDMP1. Hand radiographs of heterozygous mutation carriers showed mild shortening of the metacarpals IV and V; a finding confirmed by the analysis of their metacarpophalangeal profiles (MCPPs). The mutation described here points toward an important function of the prodomain for the folding, secretion, and availability of biologically active CDMP1., (Copyright 2003 Wiley-Liss, Inc.)

Recently, deletions encompassing the nuclear receptor binding SET-Domain 1 (NSD1) gene have been described as the major cause of Japanese patients with the Sotos syndrome, whereas point mutations have been identified in the majority of European Sotos syndrome patients. In order to investigate a possible phenotype-genotype correlation and to further define the predictive value of NSD1 mutations, we performed mutational analysis of the NSD1 gene in 20 patients and one familial case with Sotos syndrome, five patients with Weaver syndrome, six patients with unclassified overgrowth/mental retardation, and six patients with macrocephaly/mental retardation. We were able to identify mutations within the NSD1 gene in 18 patients and the familial case with Sotos syndrome (90%). The mutations (six nonsense, eight frame shifts, three splice site, one missense, one in-frame deletion) are expected to result in an impairment of NSD1 function. The best correlation between clinical assessment and molecular results was obtained for the Sotos facial gestalt in conjunction with overgrowth, macrocephaly, and developmental delay. In contrast to the high mutation detection rate in Sotos syndrome, none of the patients with Weaver syndrome, unclassified overgrowth/mental retardation and macrocephaly/mental retardation, harbored NSD1 mutations. We tested for large deletions by FISH analysis but were not able to identify any deletion cases. The results indicate that the great majority of patients with Sotos syndrome are caused by mutations in NSD1. Deletions covering the NSD1 locus were not found in the patients analyzed here.

Background/aims: In this study we aimed to investigate the relation between hepatitis C virus (HCV) and B cell lymphoproliferative diseases., Methods: Eighty-four patients with B-cell non-Hodgkin lymphoma and 50 patients with Hodgkin lymphoma were included. Control group consisted of another 100 otherwise healthy blood donors who had no previous history of invasive surgery, blood transfusions, and viral hepatitis. HCV positivity was investigated in both case groups and control group., Results: Anti-HCV positivity was significantly more frequent in B-cell non-Hodgkin lymphoma patients compared to control group (7.1% vs. 1%, p<0.05). In Hodgkin lymphoma patients however, frequency was comparable with the control group (2% vs. 1%, p<0.05)., Conclusions: These findings suggest that HCV may play a role in the development of B-cell non-Hodgkin lymphoma, but not in Hodgkin lymphoma.

Objectives: The purpose of this study was to investigate the diagnostic value of some osteoblastic/osteoclastic biochemical markers and serum prolidase I activity in breast cancer (BC)., Design and Methods: Serum bone gla protein (BGP), prolidase I activity, urinary deoxypyridinoline (Dpy) and calcium excretions were measured, in metastatic and nonmetastatic BC patients, and in 52 healthy women., Results: In patients with metastases, bone turnover markers were found to be significantly higher than those in the control group and in patients without metastases. Serum prolidase activity in patients with and without metastases was also significantly higher than those in the control group, but there was no difference between the two patient groups., Conclusions: Bone turnover has been suggested to be accelerated in BC patients with the more pronounced osteolytic activation, especially in metastatic state. Serum prolidase in premenopausal period appears to be valuable in discriminating cancer patients from controls. BGP and to a lesser degree of Dpy, may be useful markers for predicting the metastatic bone involvement, as well as for the more cost effective management of BC patients and monitoring the effects of antiresorptive therapy of malignant osteolysis before any metastasis could be detected by other invasive techniques.

Mutations in the gene for fibrillin-1 (FBN1) cause Marfan syndrome (MFS), an autosomal dominant heritable disorder of connective tissue with prominent manifestations in the skeletal, ocular, and cardiovascular system. FBN1 mutations have also been identified in a series of related disorders of connective tissue collectively termed type-1 fibrillinopathies. We have developed temperature-gradient gel electrophoresis (TGGE) assays for all 65 FBN1 exons, screened 126 individuals with MFS, other type-1 fibrillinopathies, and other potentially related disorders of connective tissue for FBN1 mutations, and identified a total of 53 mutations, of which 33 are described here for the first time. Several mutations were identified in individuals with fibrillinopathies other than classic Marfan syndrome, including aneurysm of the ascending aorta with only minor skeletal anomalies, and several individuals with only skeletal and ocular involvement. The mutation detection rate in this study was 42% overall, but was only 12% in individuals not fulfilling the diagnostic criteria for MFS, suggesting that clinical overdiagnosis is one reason for the low detection rate observed for FBN1 mutation analysis., (Copyright 2002 Wiley-Liss, Inc.)

This study was planned to evaluate the feasibility of using the assay of leukocyte arylsulfatase-A (AS-A) activity as a non-invasive diagnostic tool in patients with benign and malignant breast disease. The leukocyte AS-A activity of a total of 81 women was analyzed, including 28 healthy women, 29 women with benign breast disease (BBD) and 24 patients with primary breast cancer (BC). The mean leukocyte AS-A activity in patients with BBD was slightly higher (14.3%) that observed in the healthy subjects, but the difference was not statistically significant. In patients with BC the enzyme activity was significantly higher than in the healthy subjects (60.3%, P<0.05) and in the benign group (40.2%, P<0.05). In addition, since no significant differences have been observed between premenopausal patients and their controls, it is suggested that the measurement of leukocyte AS-A activity may not be a reliable test for differential diagnosis of benign and malignant proliferation in mammary glands due to the possible interfering effect of gonadal hormones on AS-A activity. In contrast, since peri- and postmenopausal BC patients have negligible or no gonadal activity function, the elevation in the activity of leukocyte AS-A in these age groups of patients may only be expected to originate from malignant proliferation. Based on our results, it is concluded that in patients in whom high leukocyte AS-A activities were observed the possibility of the presence of malignancy might also be high. Therefore, this test might be valuable as a non-invasive biochemical technique in combination with other established markers for the identification of masses in the breast.

The study was carried out on 25 women with breast cancer, 25 with fibrocystic breast disease and 19 healthy subjects. Antioxidant enzyme activities and total antioxidant status (AOX) were measured in erythrocyte and plasma of patients and healthies. Among the studied parameters, the erythrocyte Glutathione Peroxidase (GSH-Px) and Catalase (CAT) activities of patients with breast cancer were significantly different as compared to the control group values (p < 0.002 and p < 0.001) respectively. There was no correlation between total antioxidant status and any of these enzymes in erythrocyte and plasma activities of subjects. However, the positive correlation was found between erythrocyte and plasma Superoxide Dismutase [SOD(CuZn)] activities in all groups. Our results indicate that enzymatic and nonenzymatic antioxidants are differentially altered in human breast tumors. Since the total antioxidant status measurement isn't sufficient to evaluate the oxidant damage in breast disease, antioxidant enzymes must be measured separately in order to get additional information.

Twenty children with meningococcal disease (15 with meningococcal meningitis and 5 with meningococcemia without meningitis) were treated with ceftriaxone, 80 to 100 mg/kg/day for 4 days. An additional 22 patients with meningococcal disease (13 with meningitis, 9 with meningococcemia without meningitis) were treated with penicillin G. On the basis of the Damrosch-Stiehm scoring system, 19 patients were classified in the poor prognostic group and were treated with antishock therapy. Clinical recovery time and normalization of CSF were compared in two groups. When the complications were compared, necrotic skin lesions were more frequently seen in the penicillin G group than in those who received ceftriaxone. Ceftriaxone is an effective and safe drug and offers the advantage of once daily administration for treatment of meningococcal disease in pediatric patients.