The prevalence of hereditary hemochromatosis in some men from the Eastern part of Turkey and the effects of H63D mutations on iron studies.

Abstract Background: Hereditary hemochromatosis (HH) is characterized by an increased intestinal absorption of iron due to mutations in iron-related genes. The C282Y and H63D mutations of the HFE gene are principally responsible for HFE-related hemochromatosis. The majority of HH cases are reported in Western countries where HFE-related mutations are common. The prevalence of HFE-related mutations is not yet clear in eastern Turkey. We aim to clarify the frequency of HFE gene mutations in men who live in eastern Turkey and also assess the biochemical effects of the H63D mutation. Methods: Using the reverse hybridization Hemochromatosis Strip Assay A (ViennaLab, Profiblot T-48, Tecan), DNA extracted from the blood samples of 159 healthy men was analyzed for different mutations in the HFE gene. Results: The H63D mutation was found with an overall carrier frequency of 5.6% (7% heterozygous and 2% homozygous). We also noted that the C282Y gene mutation was not detected in the study. In subjects with the H63D mutation, there were significantly elevated levels both of serum iron and transferrin saturation (p<0.05). Other hematologic and biochemical tests were in the normal ranges in H63D-positive subjects. Conclusions: A lack of C282Y mutations has been reported as a basic finding for non-Western countries and Turkey. H63D mutations in the HFE gene may cause higher levels of serum iron and transferrin saturation. Both may be useful as simple screening tools for HH.

The course of hypercalciuria and related markers of bone metabolism parameters associated with corticosteroid treatment.

BACKGROUND AND OBJECTIVE: Prolonged corticosteroid (CS) use induces osteoporosis; the pathogenesis of this condition is multifactorial and includes CS-induced hypercalciuria. We investigated the course of hypercalciuria and related markers of bone metabolism parameters during and after the CS treatment. MATERIALS AND METHODS: We recruited 42 patients who were taking at least 10 mg/day of methylprednisolone or an equivalent dose of CSs for at least 30 days. The 24-h urinary calcium and sodium, a spot urinary calcium/creatinine ratio, and urinary deoxypyridinoline were measured prior to the treatment, at day 7, at days 30-60, and after the cessation of the treatment. Additionally, the serum levels of phosphorus, calcium, alkaline phosphatase (ALP), albumin, creatinine, osteocalcin, and parathyroid hormone (PTH) were analyzed. RESULTS: The 24-h urinary calcium excretion was significantly increased at day 7 (182.2 ± 158.6 mg/day; p < 0.001) and at days 30-60 (196.9 ± 167.8 mg/day; p < 0.001) compared with baseline (98.7 ± 88.1 mg/day) and returned to basal level after the cessation of the CSs (118.9 ± 90.2 mg/day; p = 0.725). The urinary deoxypyridinoline level was significantly higher at days 30-60 compared with basal level. The serum osteocalcin level was decreased at days 30-60 when compared with day 7. No significant changes were detected in the PTH, phosphorus, creatinine, and ALP levels. CONCLUSIONS: CS treatment induces hypercalciuria just after starting the treatment until the end of it. CS-induced hypercalciuria promptly improved after cessation of the treatment. By days 30-60, the excretion of urinary deoxypyridinoline was accompanied by hypercalciuria. The serum osteocalcin level was decreased at days 30-60 when compared with day 7.

Fenofibrate-induced rhabdomyolysis in a patient with stage 4 chronic renal failure due to diabetes mellitus.

Rhabdomyolysis is defined as a pathological condition of skeletal muscle cell damage leading to the release of toxic intracellular components into the circulation. Several factors may lead to rhabdomyolysis. Fenofibrate is a fibric acid derivative agent that is used in the treatment of hyperlipidaemia. Although several case reports of rhabdomyolysis have been reported due to the combination of statin and fenofibrate, fenofibrate alone rarely causes rhabdomyolysis. When administering fenofibrate in chronic renal failure, dose should be adjusted. Here, we report a case with fenofibrate-induced rhabdomyolysis in a patient with chronic renal failure.

Relationship between visfatin and some clinical and biochemical parametres in peritoneal dialysis patients.

OBJECTIVE: To characterise the relationship between visfatin levels and various clinical and biochemical parameters in peritoneal dialysis patients. METHODS: The case-control study was conducted at the Medical Faculty Hospital, Yuzuncu Yil University, Van, Turkey, between May 2007 and December 2008, and involving 41 patients on peritoneal dialysis, 20 haemodialysis patients and 20 healthy controls. Fasting visfatin level was measured with enzyme-linked immunosorpent assay (ELISA) method, and patients on peritoneal dialysis were separated into two groups according to the visfatin levels - high and low. The groups were compared in terms of some clinical (height, weight, body mass index, waist circumference, hip circumference, waist/hip ratio, heart rate, systolic and diastolic blood pressure and the kt/V and CrCI (creatanine clearance) parameters which are indicative of the dialysis adequacy) and biochemical parameters (glucose, triglycerides, cholesterol, low density lipoprotein, high density lipoprotein, aspartate aminotransferase, alanine transminase, blood urea nitrogen, creatinine, total protein, albumin, globulin, sodium, potassium, magnesium, calcium, phosphorus, ferritin, venous blood gas, parathyroid hormone and insulin). SPSS 15 was used for statistcal analysis. RESULTS: No statistically significant difference in the visfatin levels was found between the patients and controls (7.71 +/- 4.04, 7.36 +/- 3.71, 7.70 +/- 1.61, respectively, p = 0.63). The triglyceride level of the high-visfatin group was significantly higher than that of the low-visfatin group (243.8 +/- 133.2, 150.8 +/- 65.8, respectively, p<0.05). However, there was no correlation between visfatin and triglyceride levels. No difference in the other clinical and biochemical parametres was observed between the two groups of peritoneal dialysis patients. CONCLUSIONS: No significant difference in the serum visfatin levels of peritoneal dialysis patients compared to haemodialysis patients or healthy individuals was noticed. Further studies are needed to confirm the effect of visfatin on triglyceride levels, and, if confirmed, the mechanism of this relation.

[Clinical and laboratory features of patients with pericardial effusion]. / Perikart efüzyonu olan hastalarin klinik ve laboratuvar özellikleri.

OBJECTIVES: We reviewed patients who were diagnosed to have pericardial effusion (PE) over a four-year period to determine the causes of PE, clinical and laboratory features, and treatment modalities. STUDY DESIGN: Medical records of 136 patients (81 women, 55 men; mean age 55.8±18.7 years; range 8 to 90 years) admitted to our department with PE from August 2005 to August 2009 were reviewed. The diagnosis of PE was made by transthoracic echocardiography. Medical history, physical examination, electrocardiography, echocardiography, and laboratory findings and treatment methods were recorded. RESULTS: The most frequent complaint was dyspnea (86.8%) and the most common physical examination finding was jugular venous distension (47.1%). The most common electrocardiographic and echocardiographic findings were tachycardia (47.8%) and mild PE (<1 cm) (63.2%), respectively. Chronic renal failure and malignant diseases were the primary causes of PE (25% and 22.8% respectively), followed by idiopathic cases (14%). Pericardial tamponade was detected in 34 patients (25%), of which the majority had malignant diseases (53%). Thirty-eight patients (27.9%) underwent interventional treatment (pericardiocentesis in 27, surgical drainage in 11), while 98 patients (72.1%) were followed-up with medical treatment. Mortality occurred in three patients with pericardial tamponade. CONCLUSION: The most common causes of PE in our cases were chronic renal failure and malignancies. The incidence of malignant PE is on the incline owing to increased life expectancy. Echocardiography is the primary imaging modality for the evaluation of PE.

Incidence of renal insufficiency in cancer patients.

The frequency of chronic renal insufficiency among cancer patients is unclear. The aim of this study was to determine the frequency of impaired renal function within a population of cancer patients. One thousand two hundred seventeen patients (563 women, 654 men) with cancer underwent serum creatinine concentration and glomerular filtration rate (GFR) evaluations. The Cockcroft-Gault formula was used to estimate the GFR from the creatinine clearance (Cl(cr)). Renal insufficiency was defined as a GFR 1.2 mg/dL). According to the Cockcroft-Gault formula evaluations, however, 330 (27.1%) of the patients had an estimated GFR <90 mL/min. Among these, the Clcr was between 60 and 89 mL/min in 241 patients (19.8%); 30 and 59 mL/min in 75 patients (6.2%); and 15 and 29 mL/min in 7 patients (0.6%); 7 patients (6%) had a Cl(cr) <15 mL/min. As a result, 21.2% of patients demonstrating a normal serum creatinine level had abnormal renal function. Renal function should be evaluated in all cancer patients, regardless of their serum creatinine level, before any drug regimen is administered. The Cockcroft-Gault formula appears to be more accurate than serum creatinine concentration for diagnosing renal insufficiency in patients with cancer, but more prospective studies in this population will be necessary to confirm this finding.

Serum leptin levels in gastric cancer patients and the relationship with insulin resistance.

INTRODUCTION: Serum leptin levels have been examined in various cancers, with conflicting results. However, there is limited information regarding serum leptin levels and insulin resistance in gastric cancer patients. Therefore, we aimed to investigate serum leptin levels, performance status, insulin levels and insulin resistance in patients with gastric cancer. In addition, we examined the relationship between these measurements and leptin levels. MATERIAL AND METHODS: Thirty-nine patients with gastric cancer and 30 control subjects were enrolled in the study. Serum leptin, total protein, albumin, growth hormone, insulin and glucose levels were measured. The homeostasis model assessment (HOMA) was used to assess insulin resistance. RESULTS: Serum levels of insulin, glucose and growth hormone and insulin resistance were significantly lower in gastric cancer patients than controls (p < 0.05 for all). In the Pearson correlation analysis, insulin resistance was found to be significantly correlated with serum leptin levels in gastric cancer patients (r = 0.320, p = 0.047). We observed a significant negative correlation between performance status and insulin resistance in patients with cachexia (r = -0.512, p = 0.030), while no association was found in non-cachectic patients. CONCLUSIONS: We concluded that serum leptin levels are significantly lower in gastric cancer patients. In addition, gastric cancer patients have decreases in insulin levels, insulin resistance and growth hormone levels. This study found a positive association between serum leptin levels and insulin resistance. Moreover, there is a negative association between serum leptin levels and growth hormone levels. Thus, low insulin and growth hormone levels may suppress the production of leptin in gastric cancer patients.

Serum malondialdehyde levels, myeloperoxidase and catalase activities in patients with nephrotic syndrome.

OBJECTIVES: Some studies have indicated the pathophysiological importance of reactive oxygen species (ROS) in patients with nephrotic syndrome. Myeloperoxidase (MPO) is a leukocyte-derived enzyme-generating ROS that has been proposed to exert a wide array of pro-atherogenic effects throughout all stages of the atherosclerotic process. The aim of this study was to investigate the serum malondialdehyde (MDA) levels, MPO and catalase activities in patients with adult nephrotic syndrome. PATIENTS AND METHOD: s Twenty-four patients with nephrotic syndrome and 24 healthy controls were enrolled. Serum MPO activity, catalase activity, and MDA levels were assessed. RESULTS: Serum MPO activity and MDA levels were significantly higher in patients with nephrotic syndrome than controls (both, P<0.001), while catalase activity was significantly lower (P<0.001). Serum catalase activity was found to be significantly correlated with MPO activity (r=-0.417, P=0.003) and MDA levels (r=-0.532, P=0.007). The serum MDA levels were also found to be significantly correlated with MPO activity (r=0.419, P=0.003). CONCLUSIONS: We concluded that serum MPO activity and oxidative stress were increased and that serum catalase activity was decreased in patients with adult nephrotic syndrome. In addition, these results indicate that increased MPO activity is associated with an oxidant-antioxidant imbalance that may contribute to atherosclerosis in patients with adult nephrotic syndrome.

Endodermal Sinus Tumor Presented With Ascites: A Case Report.

We report a case of primary endodermal sinus tumor of the omentum which may be the fourth reported case in the English literature. A 19-year-old boy presented with ascites. Analysis of ascites revealed high levels of AFP and CA 125. Laparoscopic biopsy showed endodermal sinus tumour. He was treated with four courses of the BEP regimen (bleomycin, etoposide, cisplatin). The patient was died 2 months after the first appearance of the ascites. Endodermal sinus tumor (EST) is a rare neoplasm which usually arises in the testis or ovary. But extragonadal EST especially located in the abdomen is very rare condition. Clinicians should remain vigilant particularly, when there is a low gradient ascites and are high levels of tumor markers in ascites in young patients.

A Flare of Ulcerative Colitis Accompanied With Cerebral Sinus Venous Thrombosis And Bilateral Thalamic Infarctus: A Case Report.

Ulcerative colitis (UC) is a chronic inflammatory and recurrent disorder that is characterized by bowel inflammation. Some patients with Inflammatory Bowel Disease (IBD) have acute, severe, and sometimes devastating intracranial complications that require immediate medical intervention. Cerebral sinus vein thrombosis is a rare but serious extraintestinal complication associated with ulcerative colitis. Herein we report a 30-year-old man with UC who presented with a flare of gastrointestinal symptoms with mental obtundation and apathy. Total colonoscopy revealed active colitis and cranial MRI showed extensive cerebral sinus venous thrombosis with thalamic infarcts. Because the patient was clinically unstable metilprednisolon with low molecular weight heparin were administered. Two days after treatment the patient was died despite all medical efforts.

Assessment of internal jugular vein thrombosis due to central venous catheter in hemodialysis patients: a retrospective and prospective serial evaluation with ultrasonography.

AIM: We aimed to evaluate the frequency of catheter-related internal jugular vein (IJV) thrombosis, associated factors, and the anatomical variations of IJV in hemodialysis patients. MATERIAL AND METHODS: Hemodialysis patients were evaluated with B-mode ultrasonography (USG). Participants in the prospective group were evaluated using USG prior to catheter insertion, 10 days after catheter insertion, at the time of catheter removal, and 15 days after removal. RESULTS: The rate of thrombosis was increased correlated with the number of catheter insertions. These rates were 14%, 15%, and 47% in those undergoing catheter insertion once, twice, and three times, respectively (P < .05). The anatomical variations of IJV were 21% in the retrospective cases. No significant relationship was found between anatomical variations and thrombosis and between some biochemical parameters and thrombosis. CONCLUSION: Catheter-related IJV thrombosis is frequent in hemodialysis patients. Long catheter remaining time and repeated catheterization increase the thrombosis rate.

Alveolar echinococcosis of the liver: a single center experience.

INTRODUCTION: In humans, alveolar echinococcosis (AE) of the liver is caused by canine tapeworm called Echinococcus multilocularis. The disease is most prevalent in the northern hemisphere and in the eastern part of Turkey. OBJECTIVES: The aim of the study was to review the natural history of AE and its clinical and radiological features. PATIENTS AND METHODS: The retrospective study involved 23 patients (10 men, 13 women), aged 34-75 years with AE who had been referred to our liver disease clinic in the past 4 years. Only patients with pathologically proven AE were included in the study. The sociodemographic, clinical, and radiological features of AE were also evaluated. RESULTS: The main laboratory characteristics of AE included mild eosinophilic leukocytosis with hypergammaglobulinemia, elevated C-reactive protein levels, near-normal liver transaminases, and increased levels of cholestatic enzymes and immunoglobulin E. Eight patients (35%) had hepatitis B e antigen-negative hepatitis B infection. Budd-Chiari syndrome was identified in 3 of 23 patients (13%). Eighty-three percent of the patients had a seropositive test result for AE, and approximately one-third of the patients had distant metastasis. Surgical treatment was administered in 4 patients. Four patients died due to complications during follow-up. CONCLUSIONS: Patients with AE have numerous complications and advanced disease at the time of diagnosis. The clinical picture of AE comprises a number of hepatic and extrahepatic disturbances related both to destructive and mass effects of the tapeworm.

Prevalence of Helicobacter pylori in patients with brucellosis.

BACKGROUND: Helicobacter pylori infection affects approximately 40 million individuals in Turkey. Our prefecture is an endemic area for H. pylori infection and brucellosis. However, there are no data on the H. pylori prevalence among patients with brucellosis. OBJECTIVES: The primary aim of the current study was to investigate the link between H. pylori infection and brucellosis. The secondary aim was to determine the seroprevalence of H. pylori infection in healthy individuals. METHODS: Between May 2010 and May 2011, serum was collected from patients with Brucella infection (n = 111) and healthy individuals (n = 120) and analyzed using an enzyme-linked immunosorbent assay kit. Brucella infection was defined as a positive Wright test or blood culture positivity for Brucella in conjunction with disease symptoms and findings. RESULTS: Among the 111 patients with brucellosis, 69% (n = 77) had a seropositivity result for H. pylori IgG. The healthy control subjects had an 87% (n = 104) seropositivity for H. pylori IgG. The serum H. pylori IgG antibody seropositivity was significantly lower in the patients with Brucella infection compared with the control subjects (P < 0.001). CONCLUSION: Our results show that the serum prevalence of H. pylori among the patients infected with brucellosis is significantly lower than that in the control population. A negative correlation between H. pylori infection and brucellosis infection might be hypothesized.

Serum procarboxypeptidase A and carboxypeptidase A levels in pancreatic disease.

BACKGROUND AND OBJECTIVES: To determine the serum levels of procarboxypeptidase A (pro-CPA) and carboxypeptidase A (CPA) in patients with acute and chronic pancreatitis and pancreatic cancer. MATERIALS AND METHODS: Serum samples obtained from 96 patients with acute pancreatitis, 101 patients with chronic pancreatitis, 98 patients with pancreatic cancer and 96 control groups were assayed for biochemical parameters and serum pro-CPA and CPA. RESULTS: Serum pro-CPA and CPA levels were significantly higher in acute and in chronic pancreatic cancer patients compared to control group (p < 0.001). Pancreatic cancer patients had significantly higher serum pro-CPA and CPA levels when compared with acute and chronic pancreatitis cases (p < 0.001). CONCLUSION: These data prove for increased pro-CPA and CPA levels as a biomarker for the diagnosis of pancreatitis and pancreatic cancer.

Fenofibrate-induced rhabdomyolysis in a patient with chronic renal failure due to nephrotic syndrome: a rare case report.

OBJECTIVES: Fenofibrate is a fibric acid derivative that is used alone or combination with statins in the treatment of hyperlipidemia. These drugs have potential risks, including rhabdomyolysis and acute renal failure. Despite reports of rhabdomyolysis with the use of fenofibrate alone or with statin-fibrate combinations, there have been no cases of rhabdomyolysis described when fenofibrate was used alone to treat patients with chronic renal failure owing to nephrotic syndrome. DESIGN AND METHODS: We report on a 26-year-old male who presented with fenofibrate-induced rhabdomyolysis with chronic renal failure due to nephrotic syndrome. RESULTS: After the discontinuation of fenofibrate, the patient was treated with intravenous fluid replacement and urine alkalization. Subsequently, his clinical and biochemical findings improved. CONCLUSIONS: Before starting fenofibrate therapy, the causes of secondary hyperlipidemia, especially nephrotic syndrome, should be investigated. In the presence of chronic renal failure and hypoalbuminemia, the fenofibrate dose should be adjusted. Physicians should be aware of the potential toxicities of fenofibrate, and patients should be informed about its potential side effects.

Skin bleeding time for the evaluation of uremic platelet dysfunction and effect of dialysis.

INTRODUCTION: In patients with chronic kidney disease (CKD) predisposition to bleeding is frequently seen due to disturbances in platelet adhesion and aggregation. Various tests have been utilized to evaluate the disturbance of hemostasis in end-stage renal disease patients. In this trial; we evaluated skin bleeding time in patients admitted to our hospital with uremic symptoms and having hemodialysis (HD) for the first time. We also examined the effects of HD and uremia on this test and investigated its effectiveness in predicting the hemorrhagic complications before implementation of invasive procedures in uremic patients. MATERIAL-METHOD: Twenty nine patients (13 men,16 women; mean age 59.7 ± 18.1) with CKD who presented with symptoms of uremia and treated with HD for the first time were enrolled in this trial. The skin bleeding time were measured before initiation of first hemodialysis and after the second hemodialysis session. RESULTS: The skin bleeding time after the second dialysis was significantly shorter when compared to pre-dialysis values (p < 0.05). Correlation analysis between the skin bleeding time and urea, creatinine, hemoglobin, platelet, and bicarbonate showed no correlation. CONCLUSIONS: Skin bleeding time could reveal the uremic platelet dysfunction and beneficial effect of dialysis in the patients who presented with uremic symptoms and treated with HD for the first time. We suggest that skin bleeding time may be an appropriate test for the evaluation of hemostasis disturbance in uremic patients and prediction of the bleeding risk before invasive procedures.

A rare cause of massive ascites: familial Mediterranean fever.

Familial Mediterranean fever is an autosomal recessive disease characterized by recurrent fever and peritoneal and pleural inflammation. It is an inherited disorder commonly found in Armenians, Turks, Arabs, Balkans, and Jews originating from North African countries. A small amount of peritoneal fluid collection can be observed during peritoneal attacks in patients with Familial Mediterranean fever, but chronic ascites has been described rarely in these patients. A 42-year-old female patient was admitted to our clinic in June 2010 with fever, severe abdominal pain and abdominal distention that had continued for one month. There was no family history of periodic fevers or abdominal pain. We could not find any cause for ascites, including tuberculosis. A diagnosis of Familial Mediterranean fever was suspected based on the clinical findings and her family history. She was screened for mutations causing Familial Mediterranean fever, and when found to be homozygous for M694V, treatment with colchicine was initiated. After treatment, the amount of ascites decreased, and relief of symptoms was confirmed during a follow-up. In conclusion, because Familial Mediterranean fever is common in our country, it should be considered in the differential diagnosis of patients with ascites of unknown etiology in populations where hereditary inflammatory disease is endemic.

Synchronous Esophageal Squamous Cell Carcinoma and Esophageal Variceal Bleeding due to Idiopathic Portal Hypertension: A Case Report.

Squamous cell carcinomas of esophagus are responsible for more than 80% of esophageal malignancies in Turkey. Idiopathic portal hypertension is a rare underlying cause of esophageal variceal bleeding. In such cases, detection of concomitant esophageal squamous cell cancer is also a rare occurrence. We report an unusual case of bleeding esophageal varices secondary to idiopathic portal hypertension associated with esophageal squamous cell cancer. To our knowledge, until now, there have been no reported cases of esophageal variceal bleeding due to idiopathic portal hypertension associated with esophageal squamous cell cancer. This case report demonstrates the two different conditions which may cause esophageal bleeding and there may be an association between idiopathic portal hypertension and esophageal squamous cell cancer.

Dialysis therapy for lactic acidosis caused by metformin intoxication: presentation of two cases.

Metformin is an oral antidiabetic, which is frequently used in the treatment of type II diabetes mellitus. Serious side effects may be seen during the administration of high doses of metformin. Two cases of lactic acidosis due to ingestion of high dose metformin for suicidal purposes have been presented here; in both cases, clinical improvement was seen with bicarbonate hemodialysis.