A very frequent mutation and remarkable association of R761H with M694V mutations in Turkish familial Mediterranean fever patients

Familial Mediterranean fever (FMF) is an autosomal-recessive disease. It is characterized by recurring fever, abdominal pain, and serositis. The Mediterranean fever (MEFV) gene is localized on 16p13.3 and more than 35 mutations have been described to date. There are some differences in the gene mutations of FMF in the various ethnic groups. The aim of this study is to determine the frequency of the mutations which has been reported comparatively rare, to define the most effective mutation set, and to select the most suitable DNA analysis system for Turkish FMF patients. Mutations in 330 Turkish FMF patients with typical phenotypes from various regions of Turkey were evaluated for the research purposes. These patients were analyzed for six MEFV gene mutations by the NanoChip® Molecular Genetics Workstation. The most frequent mutation was M694V, identified in 50.00% of the alleles examined; M680I followed with 14.10% and V726A—9.70%. Consequently, we determined that R761H (n?=?23; 3.48%) was the most frequent rare mutations in Turkish FMF patients. Frequency of the rare mutations were R761H (3.48%), E148Q (1.36%), and M694I (1.21%). All of these mutations were in the compound heterozygote state. Our study showed that R761H mutations were higher than it has been reported in literature until now and were mainly associated with M694V. We suggest that mutation R761H should be included in the mutation scanning analysis researches or considered if the patient has M694V/? mutation especially in Turkish FMF patients. Larger serial studies need to be done to investigate the rate and coexistence of these mutations.     

Reliability and Validity of the Turkish Version of the Abiloco-Kids

ABILOCO-Kids is a scale that assesses the walking ability of children with Cerebral Palsy (CP) from the viewpoint of parental perception. The aim of this study was to translate the ABILOCO-Kids scale into Turkish and to establish its reliability and validity in children with CP. Turkish children were recruited in this study. ABILOCO-Kids is a scale developed by Caty and et al. This scale assess the walking ability of children with CP focusing on the activity domain of the International Classification of Functioning, Disability and Health (ICF). The ABILOCO-Kids scale was translated from English into Turkish using the forward-backward-forward method. The motor functions of the 63 children participating in the study were evaluated by the Gross Motor Function Classification System (GMFCS) and the Gross Motor Function Measurement-88 (GMFM-88). The ABILOCO-Kids scale was repeated in 30 children after one week to establish test-retest reliability. While internal and external construct validity were investigated using Rasch analysis and Spearman correlation coefficient, respectively; reliability was evaluated in terms of internal consistency by Cronbach’s alpha and Person Separation Index (PSI). All items of the ABILOCO-Kids were found to fit the Rasch Model (chi-square 14.35 (df?=?20), p?=?0.813). The internal construct validity was good, overall mean item fit residual was ?0.109 (SD: 0.719) and mean person fit residual was ?0.215 (SD: 0.817). The reliability was good with Cronbach’s Alpha of 0.98 and PSI of 0.99. When the test-retest was examined via Differential Item Functioning (DIF) by time, none of the items showed DIF. Spearman correlation coefficients of the ABILOCO-Kids scale in relation to the GMFM and GMFCS were r?=?0.824, p?<?0.001; r?=??0.788, p?<?0.001 respectively. The Turkish version of the ABILOCO-Kids scale is a valid, reliable and unidimensional scale for children with CP. This scale will allow the differences in the locomotion of children with CP to be evaluated from the perspective of the family.     

Advanced magnetic resonance imaging findings in salivary gland tumors

Salivary gland tumors (SGTs) make up a small portion (approximately 5%) of all head and neck tumors. Most of them are located in the parotid glands, while they are less frequently located in the submandibular glands, minor salivary glands or sublingual gland. The incidence of malignant or benign tumors (BTs) in the salivary glands varies according to the salivary gland from which they originate. While most of those detected in the parotid gland tend to be benign, the incidence of malignancy increases in other glands. The use of magnetic resonance imaging (MRI) in the diagnosis of SGTs is increasing every day. While conventional sequences provide sufficient data on the presence, localization, extent and number of the tumor, they are insufficient for tumor specification. With the widespread use of advanced techniques such as diffusion-weighted imaging, semi-quantitative and quantitative perfusion MRI, studies and data have been published on the differentiation of malignant or BTs and the specificity of their subtypes. With diffusion MRI, differentiation can be made by utilizing the cellularity and microstructural properties of tumors. For example, SGTs such as high cellular Warthin’s tumor (WT) or lymphoma on diffusion MRI have been reported to have significantly lower apparent diffusion values than other tumors. Contrast agent uptake and wash-out levels of tumors can be detected with semi-quantitative perfusion MRI. For example, it is reported that almost all of the pleomorphic adenomas show an increasing enhancement time intensity curve and do not wash-out. On quantitative perfusion MRI studies using perfusion parameters such as Ktrans, Kep, and Ve, it is reported that WTs can show higher Kep and lower Ve values than other tumors. In this study, the contribution of advanced MRI to the diagnosis and differential diagnosis of SGTs will be reviewed.     

Validation of the Omron M6 (HEM-7001-E) upper arm blood pressure measuring device according to the International Protocol in elderly patients

OBJECTIVE: Despite the widespread use of automated self-measurement monitors, there is limited published evidence on their accuracy and reliability on different patient groups. The objective of this study was to evaluate the accuracy and reliability of the Omron M6 (HEM-7001-E) upper-arm blood pressure (BP) device against mercury sphygmomanometer on elderly patients according to the criteria of the International Protocol. DESIGNS AND METHODS: Thirty-three patients above 65 years of age, who were classified based on the BP categories of the International Protocol, were recruited for the study. BP measurements at the upper arm with the Omron M6 were compared with the results obtained by two trained observers using a mercury sphygmomanometer. Nine sequential BP measurements were taken. During the validation study, 99 measurements were obtained from 33 patients for comparison. The first phase was carried out on 15 patients and if the device passed this phase, 18 more patients were selected. RESULTS: Mean discrepancies and standard deviations of the device sphygmomanometer were 1.4+/-5.3 mmHg for systolic BP (SBP) and -1.4+/-4.5 mmHg for diastolic BP (DBP) in the study group. The device passed phase 1 in 15 patients. In phase 2.1, from the total 99 comparisons, 76, 92, and 97 for SBP and 77, 94, and 99 for DBP were less than 5, 10, and 15 mmHg, respectively. The Omron M6 passed phases 2.1 and 2.2 in the elderly group of patients. CONCLUSION: The Omron M6 (HEM-7001-E) upper-arm BP monitor passed according to the International Protocol criteria and can be recommended for use in elderly patients.     

The spectrum of diseases causing fever of unknown origin in Turkey: a multicenter study.

OBJECTIVE: The purpose of this trial was to determine the spectrum of diseases with fever of unknown origin (FUO) in Turkey. METHODS: A prospective multicenter study of 154 patients with FUO in twelve Turkish tertiary-care hospitals was conducted. RESULTS: The mean age of the patients was 42+/-17 years (range 17-75). Fifty-three (34.4%) had infectious diseases (ID), 47 (30.5%) had non-infectious inflammatory diseases (NIID), 22 (14.3%) had malignant diseases (MD), and eight (5.2%) had miscellaneous diseases (Mi). In 24 (15.6%) of the cases, the reason for high fever could not be determined despite intensive efforts. The most common ID etiologies were tuberculosis (13.6%) and cytomegalovirus (CMV) infection (3.2%). Adult Still's disease was the most common NIID (13.6%) and hematological malignancy was the most common MD (7.8%). In patients with NIID, the mean duration of reaching a definite diagnosis (37+/-23 days) was significantly longer compared to the patients with ID (25+/-12 days) (p=0.007). In patients with MD, the mean duration of fever (51+/-35 days) was longer compared to patients with ID (37+/-38 days) (p=0.052). CONCLUSIONS: Although infection remains the most common cause of FUO, with the highest percentage for tuberculosis, non-infectious etiologies seem to have increased when compared with previous studies.     

Hepatitis B seroprevalance and risk factors in urban areas of Malatya.

BACKGROUND/AIMS: To determine the prevalence of hepatitis B viral markers and to assess possible risk factors in urban areas of Malatya. METHODS: This was a sero-epidemiological, community based cross-sectional study and included 646 participants( female 352, male:294) from 192 houses. A face to face questionnaire was carried out and HBsAg, anti-HBc and anti- HBs markers were analyzed from blood samples using Micro ELISA technique. RESULTS: The prevalence of HBsAg, anti-HBc and anti-HBs were found to be 6.0%, 29.3% and 30.3% respectively. In the final logistic regression, HBV infection (=anti HBc+) was independently associated with the age group of 21 years and older (OR=3.7, 95% CI=1.884-7.494), in illiterate subjects (OR=2.1, 95% CI=1.180-3.326), in farmers and labourers (OR=2.8, 95% CI=1.042-7.953) and in these with multiple sexual partners (OR=2.1, 95% CI=1.574-8.168). In addition, HBV infection was significantly higher in circumcised male children compare to uncircumcised ones ( chi2=5.58, P=0.01), in ones who gave birth to child at home compare to in ones who gave birth to a child at hospital ( chi2=13.86, P=0.0001). CONCLUSION: The results of our study indicate that Malatya province has a moderate endemicity with regard to HBV infection.     

Lack of association of hepatic estrogen receptor-alpha expression with histopathological and biochemical findings in chronic hepatitis C

Estrogens exert a protective effect against hepatic steatosis and fibrosis. Loss of estrogen receptor-alpha (ER-α) in the liver is associated with hepatic steatosis and inflammation in animal models. We conducted a study in order to investigate the presence and extent of ER-α expression in HCV infection, and its relationship with histological and biochemical findings. Ninety biopsy-proven chronic hepatitis C (CHC) patients were enrolled in the study. Liver biopsy specimens were immunohistochemically stained for ER-α expression. Nuclear ER-α expression percentage was calculated. ER-α was positive in 69 of the patients (76%). ER-α positive and negative groups were not significantly different in terms of age, gender, necroinflammatory activity, fibrosis, steatosis, serum levels of AST, ALT, ALP, GGT, and bilirubin. ER-α expression percentage was not correlated with fibrosis, steatosis, necroinflammatory activity and biochemical findings. Although estrogens are known to be protective against fibrosis and steatosis in animal models, we did not find any significant correlation between ER-α expression and histopathological and biochemical findings in CHC patients. These findings should be verified in further large scale studies.