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.     

Analysis of insulin like growth factor 1 and insulin like growth factor binding protein 3 levels in bronchoalveolar lavage fluid and serum of patients with lung cancer

OBJECTIVE: Insulin like growth factor 1 (IGF-1) is recognized as a potent mitogen for many cancer cell lines and there is good evidence that lung cancer cells produce both IGF-1 and insulin like growth factor binding protein 3 (IGFBP-3). The aim of this study was to investigate the clinical significance of IGF-1 and IGFBP-3 levels in serum and in bronchoalveolar lavage (BAL) fluid by comparing lung cancer patients with healthy controls. METHODS: BAL fluid and serum samples were obtained from 24 lung cancer patients and 12 healthy controls, and were analyzed for IGF-1 and IGFBP-3 levels by a two site immunoradiometric assay. The recovered BAL fluid was standardized by albumin to remove the variable of dilution and the data was expressed in epithelial lining fluid (ELF). RESULTS: Serum IGF-1 and IGFBP-3 levels were lower in lung cancer patients, but the difference between the groups did not reach a statistical significance. IGF-1/IGFBP-3 ratio in ELF was significantly lower in lung cancer patients (P=0.035). Mean IGF-1 level in ELF was determined to be significantly lower in patients with distant metastasis (P=0.04). Serum IGF-1/IGFBP-3 ratio was found to be significantly lower in patients with distant (P=0.04) and nodal metastasis (P=0.03). Tumor stage was negatively correlated with IGF-1 level in ELF (P=0.05, r=-0.4) and serum IGF-1/IGFBP-3 ratio (P=0.04, r=-0.4). CONCLUSION: IGF-1 and IGFBP-3 levels both in serum and ELF might serve a clinical significance in patients with lung cancer. However, further studies comprising more cases are needed to investigate the clinical significance of IGF-1 and IGFBP-3 in lung cancer.     

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.     

Addition of formoterol or montelukast to low-dose budesonide: an efficacy comparison in short- and long-term asthma control

BACKGROUND: Asthma is a chronic inflammatory disease of the airways. Inhaled corticosteroids are very important in anti-inflammatory treatment, but to a great extent they cannot control asthma alone. In addition to corticosteroids, long-acting beta2 agonists and leukotriene antagonists are used for asthma control. OBJECTIVE: In this study, the effect of the addition of formoterol and montelukast on asthma control in patients with moderately persistent asthma who were symptomatic while using a low dose of inhaled budesonide was compared. METHODS: At the beginning of the study, 40 symptomatic patients with moderately persistent asthma used 400 microg/day budesonide for a 4-week training period, and were then divided randomly into two groups, each composed of 20 persons. For the first group's treatment regime, inhaled formoterol (9 microg) twice a day was added, and for the second group's treatment regime, one-dose oral montelukast (10 microg) was added. These patients were followed up for 8 weeks. The patients' peak expiratory flow (PEF) values measured in the morning and at night, changes in PEF, forced expiratory volume in 1 s, asthma symptom score and the symptom-relieving therapy used during the 12-week study period were recorded and evaluated in the clinic at the very beginning and at the end of each period. RESULTS: Before the study, the morning PEF value of the group for whom formoterol was added to budesonide (FB) was 266.3 +/- 59.3 liters/min, and in the group for whom montelukast was added to budesonide (MB), it was 262.8 +/- 53.8 liters/min (p > 0.05). After the 8-week treatment period, the morning PEF values were found to be 320.5 +/- 54.4 liters/min in the FB group and 293.3 +/- 52.4 liters/min in the MB group; at the end of the study, it was seen that although there was an increase in morning PEF of 54.2 +/- 15.2 liters/min in the FB group, there was an increase of only 30.5 +/- 25.3 liters/min in the MB group (p < 0.0001). Before the study, night PEF values were 287 +/- 56.6 liters/min in the FB group and 283 +/- 48.5 liters/min in the MB group (p > 0.05). At the end of the treatment, the night PEF values were found to be 331.5 +/- 56.1 liters/min in the FB group and 310 +/- 53.1 liters/min in the MB group. At the end of the study, it was observed that although there was an increase in night PEF of 44.5 +/- 23.3 liters/min in the FB group, there was an increase of only 27 +/- 24.1 liters/min in the MB group (p < 0.001). Although asthma symptom scores and the use of symptom-relieving drugs showed similarities between the two groups at the beginning of the study, after treatment, the FB group had better results than the MB group with respect to these two parameters (p < 0.0001 for both). It was also seen that the two treatments are tolerated equally well. CONCLUSION: FB treatment, which causes a considerable improvement in lung function, showed better asthma control than MB treatment in patients with moderately persistent asthma.