The role of TMPRSS6 gene variants in iron-related hematological parameters in Turkish patients with iron deficiency anemia.

TMPRSS6 gene mutations can result in iron deficiency anemia (IDA) and cause an increased iron-regulatory hormone, hepcidin, levels. TMPRSS6 encodes a serine protease, matriptase-2, which functions as negative regulatory protein of hepcidin transcription. Thus, TMPRSS6 variations might be risk factors for IDA. The aim of the study was to investigate the association of rs855791, rs4820268, rs5756506, rs2235324, rs2413450, rs2111833, rs228919, and rs733655 SNPs in TMPRSS6 gene with IDA susceptibility and iron-related clinical parameters. The study consisted of 150 IDA patients and 100 healthy controls. We analyzed the genotype distributions by using Real-Time polymerase chain reaction (Real-Time PCR) technique. We did not find any statistically differences for all SNPs between patients and controls (P > 0.05). In IDA patients, variations rs855791 and rs2413450 were associated with increased RBC (P = 0.03) and TIBC (P = 0.04), respectively. Also, increased of TIBC for rs4820268 (P < 0.05). On the other hand, in control group, rs5756506 was associated with two parameters, Hb (P = 0.02) and Hct (P = 0.03). We did not find markedly hepcidin levels in IDA patients compared to controls (P = 0.32). Our findings suggest that TMPRSS6 variations may not be risk factors for IDA. However, TMPRSS6 polymorphisms are associated with increased many iron-related hematological parameters.

Appropriate neck circumference cut-off points for metabolic syndrome in Turkish patients with type 2 diabetes.

OBJECTIVE: To investigate the association between neck circumference (NC), overweight, and metabolic syndrome (MS) in Turkish patients with type 2 diabetes. METHODS: A total of 264 diabetic patients (mean age: 52.9±8.1 years) were recruited from two centers in Istanbul to perform anthropometric measurements, including waist and hip circumference, NC, and body mass index. Blood pressure, fasting glucose, and lipid profile (total cholesterol, high-density lipoprotein cholesterol, low-density lipoprotein cholesterol, and triglyceride levels) were determined. RESULTS: NC correlated with waist circumference, systolic blood pressure, and triglycerides in men, whereas NC only correlated with waist circumference in women. Additionally, NC was shown to negatively correlate with high-density lipoprotein cholesterol in both men and women. Receiver operating characteristic analysis showed that the area under the curve for NC and overweight was 0.95 for both men and women (P<0.001). Moreover, a NC of 38cm for men and 37cm for women was the best cut-off point for determining overweight. The area under the curve for NC and MS was 0.87 for men and 0.83 for women (P<0.001). A NC of 39cm for men and 37cm for women was the best cut-off point to determine participants with MS. CONCLUSIONS: Our findings suggest a positive correlation of NC with MetS in Turkish patients with type 2 diabetes, and could be a useful and accurate tool to identify MS.

Congenital Dyserythropoietic Anemia Type 1: Report of One Patient and Analysis of Previously Reported Patients Treated with Interferon Alpha.

Congenital dyserythropoietic anemias are a rare group of inherited anemias characterized by ineffective erythropoiesis and distinct morphological abnormalities in the erythroblasts. Interferon alpha has been shown to be effective in type 1 congenital dyserythropoietic anemia but the optimal duration of therapy is undefined. We present here a 32-years-old female patient diagnosed with type 1 congenital dyserythropoietic anemia precipitated by pregnancy and treated successfully with a short course of interferon alpha resulting in a durable response. A literature search including PubMed database on previously published articles regarding congenital dyserythropoietic anemia type 1 patients treated with interferon is conducted.

Treatment of patients with immune thrombocytopenia admitted to the emergency room.

Immune thrombocytopenia (ITP) is the most frequent cause of acquired thrombocytopenia. In adult ITP patients, corticosteroids and intravenous immunoglobulin (IVIg) are used as first-line treatment. The aim of the present study was to investigate retrospectively the demographic and etiologic characteristics of patients with ITP admitted to the emergency room at our hospital. Seventy-five adult patients with ITP were included, and demographic data, bleeding characteristics, etiologic features and responses to treatments were evaluated retrospectively. Fifty-six patients (75 %) were female, and the median age was 43 years. Eighteen patients had a history of ITP, whereas in 57, thrombocytopenia was identified for the first time. During admission, the median platelet count was 5 × 10(9)/L. Cutaneous and/or mucosal bleeding was the most common clinical feature. High-dose dexamethasone was administered in 60 episodes, whereas IVIg and conventional-dose methylprednisolone were used in nine and six episodes, respectively. The overall response rate of the entire cohort following first-line treatments was 67 %, and complete remission was achieved in 31 patients, 19 patients achieved partial remission, and 25 patients were non-responders. In cases with life-threatening bleeding, concomitant infection, post-traumatic bleeding and need for emergency surgery, IVIg can be used as the first line of treatment option in addition to platelet transfusions.

Neck Circumference Positively Related with Central Obesity and Overweight in Turkish University Students: A Preliminary Study.

AIM: According to the World Health Organization, central obesity is increasing alarmingly worldwide. Neck circumference is a relatively new method of differentiating between normal and abnormal fat distribution. The aim of this study is to determine the association between neck circumference and central obesity in young Turkish male and female university students. METHODS: A community of university students based cross-sectional study was conducted on 319 males and 838 females and investigated the association between neck circumference and other anthropometric variables by gender. RESULTS: In male subjects, the neck circumference revealed a positive correlation with the body mass index (r=0.684, p<0.01), waist circumference (r=0.686, p<0.01) and waist/hip ratio (r=0.534, p<0.01). Similarly, in female subjects neck circumference revealed a positive correlation with the body mass index (r=0.482, p<0.01), waist circumference (r=0.479, p<0.01) and waist/hip ratio (r=0.246, p<0.01). CONCLUSION: Our study has demonstrated that the positive correlation between neck circumference, which is a simple and fast anthropometric measurement, and visceral obesity, is also applicable to university students.

Relationship between genomic damage and clinical features in dialysis patients.

Patients with end-stage renal disease display enhanced genomic damage. We investigated the presence of genomic damage in the peripheral lymphocytes by using the micronucleus (MN) test and the factors associated with the MN frequency in hemodialysis (HD) and peritoneal dialysis (PD) patients. We studied 121 dialysis patients (60 HD and 61 PD) and 129 age- and gender-matched healthy controls. The MN analysis, used as a biomarker of chromosomal/DNA damage, was performed in peripheral lymphocytes by the cytokinesis-block method. Univariate analysis showed a significantly higher MN frequency in all patients in comparison with the controls (7.6% ± 0.3% vs. 4.9% ± 0.2%, respectively, p<0.001). Significantly higher frequency of MN was observed in both HD and PD patients compared to controls (7.7% ± 0.5% vs. 4.9% ± 0.2%, p<0.001 and 7.5% ± 0.5% vs. 4.9% ± 0.2%, p<0.001, respectively). Multivariate analysis was performed, and it showed that the low-density lipoprotein level was the only independent determinant of increasing MN frequency in our patients (ß=0.16, t=2.172, p<0.05). There is no significant difference in terms of genomic damage between two dialysis modalities, which suggests that PD may not be a more reliable choice in terms of genomic damage.

A patient with HIV infection presenting with diffuse membranous glomerulonephritis in a country with a low HIV prevalence--remarkable remission with therapy.

The most common manifestation of HIV in the kidney is HIV-associated nephropathy (HIVAN). In this report, we describe the first documented case of membranous glomerulonephritis in an HIV-positive individual in Turkey, the country with the lowest HIV prevalence in the region. The case occurred in an HIV-positive, hepatitis C (HCV)-negative, and hepatitis B (HBV)-negative Caucasian male, who presented with nephrotic-range proteinuria. The patient had a favorable response to HAART and an angiotensin-receptor blocker.

DNA repair XRCC1 Arg399Gln polymorphism is associated with the risk of development of end-stage renal disease.

Patients with end-stage renal disease (ESRD) display enhanced genomic damage. DNA repair gene polymorphisms may affect DNA repair capacity and modulate susceptibility to ESRD. In this study, we aimed to determine the frequency of polymorphisms in two DNA repair enzyme genes, Xeroderma pigmentosum complementation group D (XPD) and X-ray cross-complementing group 1 (XRCC1), in patients with ESRD and to evaluate their association with ESRD development. By using polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP), we genotyped four single nucleotide polymorphisms (SNPs) in XPD codons 312 and 751 and XRCC1 codons 194 and 399 in 136 dialysis patients (71 patients undergoing hemodialysis and 65 subjected to peritoneal dialysis) and 147 healthy controls. Patients having XRCC1 399 Arg/Gln (OR:1.98; 95% CI: 1.21-3.25, P = 0.007) or XRCC1-399 Gln/Gln (OR: 3.95; 95% CI: 1.45-10.76, P = 0.005) genotype had a significantly higher risk of ESRD than those with XRCC1 399 Arg/Arg genotype. We also found a significantly higher frequency of the XRCC1 399Gln allele in patients with ESRD than in controls, with OR = 2.03 (95% CI = 1.08-3.81, P = 0.03). We further investigated the potential combined effect of these DNA repair variants on the risk of ESRD development. It was found that combination of the Arg/Gln or Gln/Gln genotypes of XRCC1 Arg399Gln polymorphism with the two possible genotypes of XPD-Asp312Asn or with the Lys/Gln or Gln/Gln genotypes of XPD Lys751Gln was significantly associated with the development of ESRD. This is the first report showing an association between DNA repair gene polymorphisms and ESRD development, and suggests that XRCC1 Arg399Gln polymorphism may confer increased risk for the development of the disease. Further larger studies should be conducted to confirm these results.

Native triple-valve endocarditis caused by penicillin-resistant Streptococcus sanguis.

BACKGROUND: A 26-year-old man with known but untreated ventricular septal defect was admitted to the emergency ward with abdominal pain, fever and weight loss. Transthoracic echocardiography showed multiple vegetations on the anterior mitral leaflet, a mobile vegetation on the surface of the aortic noncoronary cusp and another on the tricuspid valve. His blood cultures grew Streptococcus sanguis with a penicillin minimum inhibitory concentration of 3 microg/ml. INVESTIGATIONS: Physical examination, echocardiography, blood cultures, minimal inhibitory concentration detection. DIAGNOSIS: Multivalvular infective endocarditis caused by S. sanguis with a high penicillin resistance. MANAGEMENT: A combination of intravenous vancomycin and gentamicin, followed by early surgery.

Is lipid lowering treatment aiming for very low LDL levels safe in terms of the synthesis of steroid hormones?

Today atherosclerotic diseases are among the most important causes of death in the world. Epidemiological, clinical, genetic, experimental and pathological studies have clearly shown the role of lipoproteins in atherosclerosis. LDL is the major atherogenic lipoprotein and has been defined as the primary target of lipid lowering treatment by NCEP. Although the level of LDL, the primary target in the treatment of dyslipidemia, has been set as below 100 mg/dl in coronary heart diseases (CHD) and CHD risk equivalents, this level has been pulled down to below 70 mg/dl for the group defined as very high risk group by the ATP (Adult Treatment Panel) guide that has been updated following the new clinical studies. As we already know, cholesterol is the precursor of glucocorticoids, mineralocorticoids and sex steroids, besides being a structural component of the cell membrane. Both adrenal and non-adrenal (ovarian+testicular) all steroid hormones are primarily synthesized using the LDL-cholesterol in the circulation. In addition to this, there is 'de novo' cholesterol synthesis in both the adrenals and gonads controlled by the HMG-CoA reductase enzyme. A third pathway, which under normal circumstances has little contribution as compared to the first two, is the use of circulatory HDL-cholesterol by the adrenal and gonadal tissues for the synthesis of steroids. Our knowledge on extremely lowered LDL levels is quite limited. However, since statins both decrease circulatory LDL and inhibit de novo cholesterol synthesis, they are likely to affect the synthesis of steroid hormones.

Enhanced sensitivity to oxidant-induced micronucleus frequency in elderly individuals is not associated with glutathione S-transferase M1 (GSTM1) null genotype in lymphocytes.

BACKGROUND: A large number of studies have demonstrated that various kinds of DNA damage accumulate during aging and that oxidative stress possibly contributes to this process. Glutathione S-transferase M1 (GSTM1) can prevent their possible effects on DNA via detoxification of reactive substances that induced oxidative stress. OBJECTIVE: To investigate the relationship between GSTM1 polymorphism and DNA sensitivity to oxidative stress with age, we used micronucleus (MN) frequency as a marker of DNA damage in lymphocytes from young and elderly subjects. METHODS: This study was performed in 30 young (age range 20-36 years) and 30 elderly (age range 66-87 years) healthy individuals who were chosen on the basis of their GSTM1 genotype (15 GSTM1 null and 15 GSTM1 positive for each group). Lymphocytes were cultured after Ficoll isolation and treated for 48 h with a 30-muM dose of cumene hydroperoxide (CumOOH), a dose that does not decrease cell viability. RESULTS: There was no significant difference in the MN frequency observed in control cultures from young and elderly individuals. However, the MN frequency in CumOOH-treated cultures was significantly higher in the elderly group than the young group (p < 0.001). No association was found between the GSTM1 phenotype and CumOOH-induced MN frequency. CONCLUSIONS: The results suggest that lymphocytes of elderly individuals are more susceptible to in vitro MN induction by CumOOH. However, this difference in susceptibility is not explained by the lack of GSTM1.

Relationship between insulin resistance and end-organ damage in white coat hypertension.

BACKGROUND: End-organ damage is seen in some patients suffering from white coat hypertension (WCH). It remains unclear which patients elude the risk of end-organ damage. A relationship between end-organ damage and insulin resistance was hypothesized. METHODS: This hypothesis was tested by comparing two groups of patients with WCH: those presenting with end-organ damage and those without end-organ damage. Both groups were tested for the presence of insulin resistance. The study was conducted in the outpatient clinics of the Internal and Family Medicine Departments of Cerrahpasa Medical School, Istanbul University. In this study 290 patients were screened for WCH, of which 75 were included in the study. The WCH was defined as an office blood pressure (BP) >/=140/90 mm Hg and mean daytime BP <135/85 mm Hg. The patients were divided into two groups according to the presence of end-organ damage. All patients received 24-h ambulatory BP monitoring. End-organ damage was diagnosed by revealing left ventricular hypertrophy on echocardiographic examination or retinopathy with fundoscopic examination. The homeostasis model assessment insulin resistance index (HOMA-IR) was used to assess insulin resistance. RESULTS: Among 75 patients with WCH, hypertensive retinopathy was detected in 25 patients, left ventricular hypertrophy in 15 patients, and both retinopathy and left ventricular hypertrophy simultanously in 6 patients. There were no significant differences between the groups regarding age, sex, lipid profile, and glucose levels. The HOMA-IR values in the patients with WCH and end-organ damage (4.2 +/- 1.7) were significantly higher (P < .0001) than those determined in patients with WCH but without end-organ damage (2.6 +/- 1.8). In patients with WCH with HOMA-IR values above 3 the risk of end-organ damage was found to be higher. CONCLUSIONS: A possible relationship between end-organ damage and insulin resistance in patients with WCH exists.

Leukocytoclastic vasculitis and renal cell carcinoma.

The association of leukocytoclastic vasculitis and renal cell carcinoma has been rarely documented. We report a patient who presented with leukocytoclastic vasculitis involving the skin and was diagnosed later as renal cell carcinoma. After the nephron-sparing surgery, the vasculitic lesions disappeared. We also briefly review cases of vasculitis and renal neoplasms.

Angiotensin-converting enzyme and metals in untreated essential hypertension.

Hypertension is an important health problem throughout the world and a risk factor for many diseases. Angiotensin-converting enzyme (ACE), a component of the renin-angiotensin system, has an important role in the regulation of blood pressure. Zinc (Zn), a trace element with important biological functions, is located in the catalytic site of ACE. Calcium (Ca), magnesium (Mg), sodium (Na), and potassium (K) also appear to be involved in hypertension pathogenesis. In this study, plasma ACE activities and Cat, Cai, Mg, Na, K, and plasma/erythrocyte Zn levels of 20 untreated patients with essential hypertension and 28 healthy individuals were evaluated. Plasma ACE activities (p<0.05) and erythrocyte Zn concentrations (p<0.001) were significantly higher in patients with essential hypertension than values of the control group. No significant difference was found between plasma Zn concentrations of the groups (p>0.05). Plasma Cat (p<0.001) and Mg levels (p<0.05) in essential hypertension were significantly lower than those of controls. Plasma Na, K, and Cai levels remained normal in essential hypertension. There are complex associations between metals and arterial pressure. Ca and Mg deficiencies seem to be associated with increased prevalence of hypertension. Increases in erythrocyte Zn may have a future potential use for diagnosis of hypertension.

Adult intussusception due to inverted Meckel's diverticulum: laparoscopic approach.

Nowadays, laparoscopy appears to be an attractive alternative to conventional surgery in the management of small bowel obstruction. Adult intussusception is an unusual cause of intestinal obstruction, and a wide range of pathologic conditions can result with intussusception. In this report, we present a very rare case of intussusception secondary to inverted Meckel's diverticulum in an adult who underwent laparoscopic surgery. The diagnostic modalities and surgical management of intussusception are discussed.