Familial Mediterranean fever in a childhood population in eastern Turkey

BACKGROUND: Familial Mediterranean fever (FMF) is an autosomal recessive disease characterized by recurrent attacks of inflammation of serosal membranes. Amyloidosis is the most severe complication of the disease The aim of this study was to explore the magnitude of the FMF problem and to describe clinical phenotypic and genotypic profile in the childhood population in Eastern Turkey. METHODS: In this study, 52 patients who were diagnosed as FMF between January 2000 and January 2003 in Department of Pediatrics, Ataturk University Hospital, were included. The diagnosis of FMF was based on typical clinical and laboratory features. The 12 FMF mutations were investigated in the patients. RESULTS: Of the 52 patients, 30 (57.7%) were girls, 22 (42.3%) were boys, and the age ranged from 9 months to 15 years (8.5 +/- 3.2 years). A positive family history for FMF was noted in 33 (63.5%) patients. The mean onset age was 6 +/- 3.4 (from 8 months to 14 years). Nineteen children (36.5%) were symptomatic below the age of 5 years. Abdominal pain was observed in 50 (96.2%), fever in 42 (80.8%), arthralgia in 29 (55.8%), arthritis in 18 (34.6%), splenomegaly in 11 (21.2), hepatomegaly in 15 (28.8%), myalgia in 11 (26.2%), erysipelas-like erythema in 10 (19.2%), thoracic pain in four (7.7%), protracted febrile myalgia in three (5.8%), and seizures in two (3.8%). The most frequent mutation was the M694V/M694V. Clinical presentation of the patients was not different in respect with genotypes (P > 0.05). Two patients had chronic renal disease suggestive of amyloidosis. CONCLUSION: It was noted that the FMF patients in this study had a broad spectrum of mutation combination, which might reflect the intercultural interactions of ancient ethnic groups that lived in Anatolia, and these mutations were not significantly different in respect to clinical presentations.     

Seroepidemiology of varicella-zoster virus infection in a cosmopolitan city (Erzurum) in the eastern Turkey

OBJECTIVE: The aim of the study was to determine VZV seroprevalence under age 30 and to identify the relationship of VZV seroprevalence and several sociodemographic characteristics of the study subjects. The results were presented in order to design a strategy for vaccination against varicella-zoster virus (VZV). MATERIAL AND METHOD: It was planned to include a total of 568 subjects. The sampling method of 30 clusters recommended for field studies was used for selecting subjects of a predetermined number in the rural and urban areas in eastern Turkey. ELISA method was used to examine the blood samples for VZV seropositivity. Age, gender, place of living, educational level, family size and socioeconomic status was investigated in the study subjects. RESULTS: Positive VZV seroprevalence was detected in 78% of 559 subjects. Seroprevalence increased with age. Seroprevalence was 16.67% at the age of 1 year, subsequently increased to 57.58% at the age of 4 years, 70% at the age of 7 years, 92.31% at the age of 10 years and then remained 86.78-96.36% in subjects over the age of 10 years. No association was found between sociodemographic variables studied and prevalence levels of antibodies except for educational level in the 0-14 year group. CONCLUSION: These results suggest that the majority of VZV infections occur during the early childhood; the best option to reduce the circulation of wild type VZV in the population would be the immunization of young children. VZV vaccine should be introduced into the routine childhood vaccination programme in Turkey.     

Multiple sclerosis and Hashimoto thyroiditis: two cases

Multiple sclerosis (MS) occurs with immune-mediated mechanisms, but its pathogenesis is not accurately known. The coexistence of MS with other autoimmune diseases has been reported. The hypothesis that MS coexists with other autoimmune diseases has been supported by the reported association of MS with type I diabetes mellitus and inflammatory disorders. Even though there have been only rare reports of associations between Hashimoto thyroiditis and MS, this association is important for its clinical and therapeutic aspects. Proximal muscle weakness, myalgia, and fatigue are symptoms that are common in both MS and hypothyroidism. When MS patients demonstrate these symptoms, thyroid function tests should be performed. The thyroid hormone levels of MS patients being treated with interferon-beta and Campath-1H also should be monitored. The authors report the clinical data of 2 definite MS patients who also fulfilled criteria for Hashimoto thyroiditis.     

Biochemical markers of bone metabolism and calciuria with inhaled budesonide therapy

We investigated the changes in renal excretion of calcium, sodium, and potassium in asthmatic children treated with inhaled budesonide, an inhaled glucocorticoid. Twenty-two asthmatic patients (7 female, 15 male, mean age 10.1±4.3 years) treated with 400–600 g/day inhaled budesonide and 23 healthy children (6 female, 17 male, mean age 10.2±2.8 years) were enrolled in the study. The parameters recorded were serum sodium, potassium, calcium, phosphorus, alkaline phosphatase (ALP), type I collagen carboxyterminal telopeptide (ICTP), osteocalcin, intact parathyroid hormone (PTH) levels, first spot morning urine calcium/creatinine ratio, sodium/potassium ratio, and daily renal calcium excretion rate (UCa-ER). These parameters were measured in the control group and pre- and post-budesonide treatment in asthmatic children. Serum electrolytes, ALP, PTH, ICTP, and UCa-ER were in the normal ranges and were not significantly different between controls and asthmatic children. Serum levels of ICTP increased, while levels of osteocalcin decreased after budesonide therapy in the asthmatic group (P=0.001, P=0.005). UCa-ER was decreased after budesonide therapy in asthmatics (P=0.000). In conclusion, moderate doses of inhaled budesonide cause hypocalciuria and decreased bone turnover. These results may be attributed to a mechanism compensating for decreased absorption of calcium in the gut due to the topical effect of swallowed budesonide rather than the systemic effects of the drug. Increased bone metabolism and decreased turnover may have an important role in this compensatory mechanism.     

Serum bcl-2 and survivin levels in melanoma

This study was conducted to investigate the serum levels of bcl-2 and survivin in patients with melanoma and the relationship with tumour progression and known prognostic parameters. Forty-four patients with cutaneous melanoma were investigated. Serum samples were obtained on first admission before adjuvant and metastatic treatment were given and at follow-up. Serum bcl-2 and survivin levels were determined using enzyme immunometric assay (EIA) and enzyme-linked immunosorbent assay (ELISA). The baseline serum bcl-2 levels were significantly higher in patients with melanoma than in the control group (P=0.01). For the serum survivin levels, no difference was found (P=0.6). No significant correlations were found between the prognostic parameters analysed and the serum survivin concentrations. The same was true of the serum bcl-2 values, except for the age of the patient (P=0.025) and nodal involvement (P=0.003). No significant relationship was found between the serum levels of bcl-2 and survivin (r=-0.13, P=0.4). In node-positive patients (n=8) both of these anti-apoptotic substances were unchanged after interferon-alpha-2b therapy. However, serum survivin concentrations were significantly increased in 10 patients with metastatic melanoma who underwent dacarbazine (DTIC)-based cytotoxic chemotherapy (P=0.047). A similar finding was not determined for the serum bcl-2 levels. In conclusion, the results of this study suggest that decreased apoptosis is associated partly with an increase in serum bcl-2. However, much research continues in this field, and exciting new knowledge will ultimately emerge.     

The effect of deferasirox on endocrine complications in children with thalassemia

Abstract

Endocrine system dysfunctions are the significant complications of excessive iron overload in beta thalassemia patients. The aim of this study was to evaluate the long-term effect of chelation with deferasirox on endocrine complications. The study group consisted of children with beta thalassemia who had been evaluated for the growth and pubertal development, bone metabolism, thyroid/parathyroid functions, glucose metabolism dysfunctions in the department of pediatric hematology of Ankara D??kap? Child Health and Diseases Hematology Oncology Training And Research Hospital between 2009-2011 and reevaluated after deferasirox chelation therapy in 2018. Thirty-one transfusion dependent beta-thalassemia patients were enrolled for the study. Seventeen (54.8%) patients were male and the mean age was 16.9?±?3.8 (9-23) years. Splenectomy was performed in 11 patients (35.5%). In the initial evaluation, 26 patients (84%) received deferoxamine and/or deferiprone and five (17%) patients received deferasirox as a chelator; in the final evaluation all patients were receiving deferasirox. The mean duration of deferasirox treatment was 5.9?±?2.02?years (1-10?years). Of the 26 patients who had endocrine complications between 2009-2011, 18 were recovered. In the final evaluation, eight patients (25%) developed new endocrinopathies. The frequency of endocrine complications seen before the deferasirox treatment (83%) was higher than the frequency of complications while receiving deferasirox treatment (25.8%) (p?<?0,05). In this study, it was determined that both existing endocrine abnormalities were reduced and recent developed problems were less likely with long-term deferasirox treatment in thalassemia patients.