Ramazan Danis

Familial Mediterranean fever gene mutations in the Southeastern region of Turkey and their phenotypical features

Familial Mediterranean fever (FMF) is an autosomal recessive disease characterized by recurrent inflammatory attacks of serosal membranes. Several studies have focused on the differences between frequency of the mutations and their phenotypical manifestations. The aim of this study was to evaluate whether or not this phenotypical variation is associated with the existence of particular mutations. Twelve MEFV (Mediterranean fever) gene mutations were investigated in 119 patients suffering from FMF. Heterozygote M694V (21/119), heterozygote E148Q (21/119), homozygote M694V (17/119) and heterozygote V726A (12/119) mutations were the most common mutations. Patients were grouped according to the presence of the M694V mutation: group I was M694V/M694V, group II was M694V/others, and group III was other/other. Mean severity scores for the groups were 13.94 ± 4.10, 10.79 ± 3.01 and 8.31 ± 2.26, respectively. There were statistically significant differences between the mean severity scores of groups I and II (p = 0.029), groups I and III (p < 0.0001), and groups II and III (p < 0.0001). Diagnosis of amyloidosis was established in four (23%) patients of group I, and three (8%) patients of group II, but in none of the patients in group III. There was also a statistically significant difference between groups I and III (p = 0.046), but not between groups II and III (p = 0.083) and groups I and II (p = 0.317) in terms of amyloidosis development. In conclusion, we found a higher disease severity score and higher prevalence of amyloidosis in FMF patients who were M694V mutation carriers. Many ethnic groups live in Anatolia and more ethnic origin-based studies are needed to determine the real effect of these mutations on disease severity and amyloidosis.

Incidence of tuberculosis disease and latent tuberculosis infection in patients with end stage renal disease in an endemic region.

Aim. Patients in chronic renal failure suffer impaired cellular immunity and have an increased risk of tuberculosis (TB). Our aim in this multicenter study was to determine the incidence of TB and to evaluate latent tuberculosis infection (LTBI) in hemodialysis patients. Methods. We retrospectively evaluated the frequency of TB in 779 dialysis patients at 13 hemodialysis centers in five different cities in Southeast Turkey. The tuberculin skin test (TST) was conducted in 733 patients to detect LTBI. Results. The mean age of the patients was 51.2 ± 15.9 years; 398 (51.1%) of the patients were female, and 53.9% of patients had a BCG scar. The mean dialysis duration time was 35.1 ± 33.4 months. TB was diagnosed in 34 cases. The incidence rate of TB in patients undergoing hemodialysis was 3.1%. Ten patients had a history of TB before beginning hemodialysis, and 24 patients had a history of TB after beginning hemodialysis. A diagnosis of TB was made based on clinical data in eight patients and microbiologically or pathologically in 26 patients. The median time between the initiation of dialysis to the diagnosis of TB was 11 months. Extrapulmonary TB occurred in 45.8% of cases, and the most common site of involvement was the lymph nodes. The TST was positive in 61.8% of TB patients and in 37.5% of those with no history of TB. Conclusions. The incidence of TB is high in hemodialysis patients, and they should be evaluated periodically to exclude insidious infection and reduce morbidity and mortality.

Role of lean body mass for estimation of glomerular filtration rate in patients with chronic kidney disease with various body mass indices

Objective. Glomerular filtration rate (GFR) is the main tool used to diagnose, treat and follow up renal diseases. Age, gender, ethnicity and obesity all affect the relationship between serum creatinine, muscle mass/body weight and GFR. This study aimed to investigate the role of lean body mass for GFR estimation in patients with chronic kidney disease (CKD) with various body mass indices. Material and methods. In total, 110 Caucasian adult subjects with CKD referred for GFR measurement by 99mTc-DTPA renography were enrolled in the study. The patients were categorized according to body mass index values: <18.5 kg/m2 (underweight), 18.5–24.9 kg/m2 (normal), 25–29.9 kg/m2 (overweight) and >30 kg/m2 (obese). Lean body mass (LBM) and fat mass were measured by leg-to-leg bioimpedance. Predictive factors were identified by linear regression analysis in each group. Results. GFR measured by DTPA, creatinine clearance, Cockcroft and Gault, and Modification of Diet in Renal Disease (four-variable) equations was 37±27, 42±30, 42±27, and 49±35 ml/min/1.73 m2, respectively. The predictive role of 1/SCr, age, serum albumin, amount of proteinuria, LBM and fat mass was investigated all groups. None of the factors was significant in underweight and healthy weight groups except for 1/serum creatinine (SCr). LBM/SCr was an independent predictive factor for both overweight and obese groups. 1/SCr accounted for 96.2% of the variability in measured GFR for underweight subjects but only 58.1% of the variability in GFR of obese subjects. Conclusions. The formulae derived from SCr should be used cautiously in overweight and obese subjects. LBM measured by bioimpedance was an independent predictive factor of GFR in obese/overweight subjects and added clinically important diagnostic value to 1/SCr. It needs to be investigated as a parameter in further studies attempting to develop formulae for estimating GFR in larger obese and overweight populations.

Socio-Cultural Features and Sex Profile of the Individuals with Serious Suicide Attempts in Southeastern Turkey: A One-Year Survey

Our objective was to elucidate potential causes of higher rates of suicide attempts in females compared to males in southeastern Turkey through a 1-year survey. Gender-related differences observed in 96 subjects who attempted suicide by poisoning for the first time were as follows: in comparison to male, females were predominantly within the age interval of 15-24 years, experienced more stressful events in the previous week before suicide attempt, had lower education level, and had a lower rate of employment. One year after the suicide attempt, unfavorable attitude of family, lack of support, persisting unfavorable lifestyle comparable with that prior to the first attempt, and higher rates of domestic violence were more pronounced in females compared to males. These findings might be contributing factors to the higher suicide attempt rates observed in females compared to the males.

Thrombosis of temporal artery and renal vein in Kimura-disease-related nephrotic syndrome.

Kimura disease (KD) is an angiolymphoid proliferative disorder of unknown etiology, occurs mainly in Asian patients, presenting with subcutaneous slowly growing masses, with a predilection for preauricular and submandibular regions. The clinical course of the disease is thought to be benign. Concomitant peripheral blood eosinophilia and elevated serum immunoglobulin E levels are often observed. Main systemic manifestation of the KD is renal involvement. Renal abnormalities, notably proteinuria and nephrotic syndrome have been found to be associated with KD. We report a 42-year-old man with KD and a steroid-sensitive membraneous nephrotic syndrome with bilaterally temporal artery and renal vein thrombosis. This is the first reported case of KD associated nephrotic syndrome complicated with wide arterial and venous thrombosis from Anatolia.

Unusual presentation of eosinophilic fasciitis: two case reports and a review of the literature

IntroductionEosinophilic fasciitis is an uncommon disorder with unknown etiology and a poorly understood pathogenesis. We present the cases of two patients with eosinophilic fasciitis with unusual presentation, and describe the clinical characteristics and laboratory findings related to them.Case presentationThe first case involves a 29-year-old Turkish man admitted with pain, edema and induration of his right-upper and left-lower limbs. Unilateral edema and stiffness with prominent pretibial edema was noted upon physical examination. A high eosinophil count was found on the peripheral smear. The second case involves a 63-year-old Turkish man who had pain, edema, erythema, and itching on his upper and lower extremities, which developed after strenuous physical activity. He had cervical lymphadenopathy and polyarthritis upon physical examination, and rheumatoid factor and antinuclear antibody upon laboratory examination.ConclusionEosinophilic fasciitis can present with various symptoms. When patients exhibit eosinophilia, arthralgia and myalgia, eosinophilic fasciitis should be considered as a possible diagnosis.

A case of essential mixed cryoglobulinemia and associated acquired von-Willebrand disease treated with rituximab.

Current treatment options of essential mixed cryoglobulinemia (EMC); include immunosuppressive approaches, such as corticosteroids, cyclophosphamide, plasma exchange, other cytotoxic drugs in moderate to severe manifestations. Some controlled studies have been carried out to assess the efficacy of anti-CD20 monoclonal antibody, rituximab in patients with hepatitis C (HCV) related cryoglobulinemia (CG) and in patients with autoimmune disorders. Recent trials and some case reports demonstrate a beneficial role for rituximab in HCV related mixed CG. Although, the published evidence for treatment of EMC with rituximab is restricted to case reports, which have shown positive results. Several diseases include lymphoproliferative and myeloproliferative disorders, solid tumors, immunological disorders, cardiovascular disorders and some drugs associated with acquired von Willebrand disease (avWD). CG, which is a kind of immune complex disease, may be related with development of autoantibodies to various autoantigens. In this present case report, we showed the efficacy of rituximab in a 21-year-old female patient, suffered from neuropathy and arthralgia related with EMC, and developed avWD, presented with mucosal bleeding associated with CG. von Willebrand factor activity of our patient also increased with controlling the underlying disease, EMC by rituximab. This case demonstrate that rituximab may be an effective treatment option in EMC and avWD mainly related to CG.

Hyperthyroidism may affect serum N‐terminal pro‐B‐type natriuretic peptide levels independently of cardiac dysfunction

Background and aim  It is known that NT‐proBNP levels increase in cardiac failure. However, NT‐proBNP levels in different thyroid states are still unclear. We aimed to evaluate serum NT‐proBNP levels in both hyperthyroid and hypothyroid patients without cardiac insufficiency.

Rhabdomyolysis-Induced Acute Renal Failure Following Fenofibrate Therapy: A Case Report and Literature Review

Fenofibrate, a fibric acid derivative, is used to treat diabetic dyslipidemia, hypertriglyceridemia, and combined hyperlipidemia, administered alone or in combination with statins. Rhabdomyolysis is defined as a pathological condition involving skeletal muscle cell damage leading to the release of toxic intracellular material into circulation. Its major causes include muscle compression or overexertion; trauma; ischemia; toxins; cocaine, alcohol, and drug use; metabolic disorders; infections. However, rhabdomyolysis associated with fenofibrate is extremely rare. Herein we report a 45-year-old female patient who was referred to our department because of generalized muscle pain, fatigue, weakness, and oliguria over the preceding 3 weeks. On the basis of the pathogenesis and clinical and laboratory examinations, a diagnosis of acute renal failure secondary to fenofibrate-induced rhabdomyolysis was made. Weekly followups for patients who are administered fenofibrate are the most important way to prevent possible complications.

Comparison of Interferon-Gamma Release Assay Versus Tuberculin Skin Test for Latent Tuberculosis Screening in Hemodialysis Patients

ABSTRACT Early diagnosis and proper treatment of latent tuberculosis infection (LTBI) in patients with end stage renal diseases (ESRD) is critical to reduce increased reactivation risk of LTBI. However, this condition is known to decrease responsiveness to the tuberculin skin test (TST). A new diagnostic test [QuantiFERON-TB Gold in-tube (QFT-GIT)] has been developed using mycobacterium tuberculosis specific antigens for the identification of LTBI. We aimed to evaluate the two test methods among hemodialysis patients for their diagnostic usefulness. We performed a cross-sectional comparison study on 275 ESRD recruits tested for LTBI using the TST and QTF-GIT. Valid TST and QFT-GIT results were available for 259 and 246 patients, respectively. Overall, 46.7% of 246 patients were tested positive for the QTF-GIT and 35.5% of 259 were found to be TST positive. The QTF-GIT but not TST results were correlated with the history of tuberculosis; conversely, QTF-GIT and TST results were not associated with contact to tuberculosis. Moreover, QTF-GIT test generated indeterminate results in 10.4% of subjects. The concurrence between the two test methods was poor (67.8%, k = 0.34). Inconsistent results, most of which were tested as TST negative/QTF-GIT positive were observed in 32.2% patients. The present results suggest that the QTF-GIT is more sensitive than TST in the detection of LTBI among renal dialysis patients. Nevertheless, large longitudinal studies are required for more accurate results.