Development and validation of parent-reported gastrointestinal health scale in MECP2 duplication syndrome.

BACKGROUND/AIMS: We aimed to develop a validated patient-reported Gastrointestinal Health Scale (GHS) specific to MECP2 Duplication Syndrome (MDS) to be used in clinical trials. METHODS: MDS parents completed a Gastrointestinal Health Questionnaire (GHQ) to investigate the most relevant and important items associated with gastrointestinal problems in MECP2-related disorders. Item reduction was executed according to EORTC guidelines. We performed reliability and validity studies for the finalized scale. RESULTS: A total of 106 surveys were eligible for item reduction and validation processes. The initial 55 items were reduced to 38 items based on parent responses, expert opinion, and initial confirmatory factor analysis (CFA). The final MDS-specific GHS included 38 items and 7 factors that underwent further reliability and validity assessments. The power of the study was at least 0.982. The Cronbach's alphas of the instruments were General Health: 0.799, Eating-Chewing-Swallowing: 0.809, Reflux: 0.794, Motility: 0.762, Mood: 0.906, Medication: 0.595, Parenting: 0.942 and all items together: 0.928. The correlation coefficient between total and individual item scores ranged from 0.215 to 0.730. Because of the ordinal nature of the variables, the diagonal weighted least squares estimation (DWLS) method was used to execute the CFA and Structural Equation Modeling. The GHS had excellent model fit with the acceptable range of fit indices values. CONCLUSIONS: We developed a parent-reported, reliable, and valid MDS-specific GHS. This scale can be utilized in clinical settings or as an outcome measure in translational and clinical research.

Evaluation of the Relationship between Childhood Traumas and Adulthood Obesity Development.

This study aimed to delineate the relationship between childhood traumas and adulthood obesity. A total of 314 individuals (157 obese and 157 nonobese) were recruited in the study. After obtaining anthropometric and sociodemographic variables, the Childhood Trauma Questionnaire (CTQ) was administered to the participants. Overall scores of CTQ were determined to be 42.6 ± 10.5 (higher trauma) in obese group and 37.2 ± 6.6 (lower trauma) in nonobese group (P < 0.001). Frequency rates of childhood traumatic experience were found to be 68.8% for obese people and 38.8% for nonobese people. In conclusion, an increased risk for adulthood obesity development was significantly associated with childhood traumatic experience.

Indices of Central and Peripheral Obesity; Anthropometric Measurements and Laboratory Parameters of Metabolic Syndrome and Thyroid Function.

BACKGROUND: Metabolic syndrome (MetS) and obesity are serious health problems in the World, including Turkey. Contemporary studies have suggested a meaningful association between insulin resistance (IR), MetS parameters, and thyroid function tests. AIMS: We aimed to elucidate the impact of fat distribution on the anthropometric and laboratory parameters, especially indices of MetS, IR and thyroid function, in obese women. STUDY DESIGN: Cross-sectional study. METHODS: Anthropometric measurements of all participants and biochemical tests in their serum samples were performed. RESULTS: Weight, waist circumference (WC), body mass index (BMI), and other parameters of fat distribution were significantly increased in all obese compared to control subjects; but there was no significant difference between central and peripheral obese groups. The central obese group had significantly higher insulin levels, components of MetS, the ratio free triiodothyronine (fT3) to free thyroxin fT4, and fT4 than those of peripheral obese and control groups. CONCLUSION: Elevated triglyceride, glucose and insulin levels may be associated with increased IR, which in turn is related to MetS. Body fat composition may affect thyroid tests in the obese; the changes in fT3/fT4 could be the consequence of fat distribution.

Colistin nephrotoxicity increases with age.

BACKGROUND: Colistin (COL) has become the backbone of the treatment of infections due to extensively drug-resistant (XDR) Gram-negative bacteria. The most common restriction to its use is acute kidney injury (AKI). METHODS: We conducted a retrospective cohort study to evaluate risk factors for new-onset AKI in patients receiving COL. The cohort consisted of 198 adults admitted to 9 referral hospitals between January 2010 and October 2012 and treated with intravenous COL for ≥ 72 h. Patients with no pre-existing kidney dysfunction were compared in terms of risk factors and outcomes of AKI graded according to the RIFLE criteria. Logistic regression analysis was used to identify associated risk factors. RESULTS: A total of 198 patients met the inclusion criteria, of whom 167 had no pre-existing kidney dysfunction; the mean patient age was 58.77 (± 18.98) y. Bloodstream infections (34.8%) and ventilator-associated pneumonia (32.3%) were the 2 most common indications for COL use. New-onset AKI developed in 46.1% of the patients, graded as risk (10%), injury (15%), and failure (21%). Patients with high Charlson co-morbidity index (CCI) scores (p = 0.001) and comparatively low initial glomerular filtration rate (GFR) estimations (p < 0.001) were more likely to develop AKI, but older age (p = 0.001; odds ratio 5.199, 95% confidence interval 2.684-10.072) was the major predictor in the multivariate analysis. In-hospital recovery from AKI occurred in 58.1%, within a median of 7 days. CONCLUSIONS: COL-induced nephrotoxicity occurred significantly more often in patients older than 60 y of age and was related to low initial GFR estimations and high CCI scores, which were basically determined by age.

Blood stream infections due to OXA-48-like carbapenemase-producing Enterobacteriaceae: treatment and survival.

BACKGROUND: Blood stream infections (BSIs) due to carbapenem-resistant Enterobacteriaceae (CRE) are associated with high hospital mortality rates and present a tremendous challenge to clinicians. The optimal treatment remains undefined. We aimed to investigate the risk factors for mortality and the correlation between different treatment modalities and outcomes. METHODS: The clinical characteristics and treatment outcomes of a cohort of 36 patients with BSIs due to CRE were investigated and a retrospective nested case-control study of surviving and non-surviving patients was conducted. RESULTS: Fifty percent of the cases were male and the mean patient age was 54.9 ± 15.8 years. Klebsiella pneumoniae was the etiological agent in 26 cases (72.2%), Escherichia coli in eight (22.2%), and Enterobacter aerogenes in two (5.5%). All strains were phenotypically positive for carbapenemase activity and all except two (one E. coli and one K. pneumoniae) yielded both blaOXA-48 carbapenemases and blaCTX-M-type extended-spectrum beta-lactamases (ESBLs) in PCR products. The 14-day, 28-day, and all-cause in-hospital mortality rates were 41.6%, 50%, and 58.3%, respectively. The median time to death was 8 days (range 2-52 days). No significant differences were observed between survivors and non-survivors in terms of baseline characteristics, comorbid conditions, etiologies, or sources of bacteremia, however hematological malignancies (p=0.015) and prolonged neutropenia (p=0.044) were more common in non-survivors. Microbiological eradication and clinical response within 7 days were two major determinants of 28-day attributable mortality (p=0.001 and p=0.001, adjusted r(2)=0.845). Colistin-based dual combinations, and preferably triple combinations, were associated with significantly better outcomes when compared to non-colistin-based regimens (p<0.001). Time to active treatment had a significant effect on the course of infection (p=0.014). CONCLUSION: Earlier active treatment with colistin based regimens and microbiological and clinical response within 7 days are major predictors of survival in cases of BSIs due to CRE. Rectal screening offers the advantage of earlier recognition and prompt empirical treatment.

Association between gene polymorphisms in TIM1, TSLP, IL18R1 and childhood asthma in Turkish population.

UNLABELLED: Many immunologic and inflammatory mechanisms play a role in asthma etiology. The aim of this study was to investigate the susceptibility of asthma patients in the Turkish population with demonstrating genes for polymorphisms in TIM1, TSLP and IL18R1. All of the genomic DNA samples were isolated from blood samples according to a standard salting-out protocol. DNA samples were stored at -20°C until the genotype analysis was performed. rs3806933 (TSLP -847 C > T) and TIM1 -416G > C were analyzed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). The rs3806933 (TSLP -847 C > T) was genotyped by PCR using our new primers and HphI restriction enzyme digestion. rs2287033 (IL18R1 c. 1270+150 A > G), rs3213733 (IL18R1 c. 626-196 G > T), and rs3771166 (IL18R1- c. 302+1694 C > T) were genotyped using SYBR green dye based real time PCR assay. RESULTS: The allele frequencies of 5 SNPs in TSLP, TIM-1, and IL18R1 genes were determined in 139 asthmatic patients and 126 healthy controls of in Turkish population. The investigated SNPs are as follows; rs3806933 (TSLP -847 C > T), TIM1 -416G > C, rs2287033 (IL18R1 c. 1270+150 A > G), rs3213733 (IL18R1 c. 626-196 G > T), and rs3771166 (IL18R1- c. 302+1694 C > T). Results suggest that IL18R1 c. 626-196 G > T (rs3213733) and TIM1 -416G > C are significantly associated with asthma in patients in Turkish population. Patients with AA genotypes of rs2287033 (IL18R1 c. 1270+150 A > G), have significantly less total serum IgE levels when compared with patients having GG or GA genotypes (p < 0.012; 381.77±239.46 vs 557.52±549.96, respectively). CONCLUSION: This study showed that IL18R1 c. 626 -196 G > T (rs3213733) and TIM1 -416G > C are significantly associated with asthma patients in Turkish population.

Sensitivity of iodine deficiency indicators and iodine status in Turkey.

BACKGROUND: Iodine deficiency is a major health problem worldwide. Goiter prevalence and the median urinary iodine concentration in a population usually define endemic iodine deficiency. In addition to goiter prevalence and median urinary concentration, thyroid stimulating hormone (TSH) and thyroxine have been used as iodine deficiency indicators. OBJECTIVE: To evaluate endemic goiter prevalence in Western Anatolia, Turkey, and to evaluate the sensitivity of thyroglobulin and height percentile as iodine deficiency indicators. SUBJECTS: We examined 727 school-children (378 girls, 349 boys) in two cities (Bolu and Düzce) and six mountainous rural areas, in West Anatolia. Of the 727 children, 234 were from four urban schools, and 493 were from eight rural schools. METHODS: Clinical examination and ultrasonography were used to evaluate goiter prevalence. Iodine in spot urine, serum total thyroxine (T4), serum free thyroxine (FT4), thyroid stimulating hormone (TSH), and thyroglobulin (Tg) were measured. Iodine deficiency severity was classified based on thyroid volume measurements by ultrasonography and urinary iodine excretion. RESULTS: The degree of iodine deficiency according to concentration of urinary iodine was severe in 276 children (38%), moderate in 151 (20.8%), mild in 114 (15.7%), and within normal levels in 186 (25.4%). Although urban areas showed normal or mild urinary iodine excretion, four rural areas showed from mild to severe iodine deficiency (p < 0.001). Thyroid volumes of the severe iodine deficiency group were significantly higher than those of moderate and mild iodine deficiency groups (p < 0.001). There was no significant difference between thyroid volumes in moderate and mild iodine deficiency groups. FT4 levels of the severe iodine deficiency group were significantly lower than in moderate and mild iodine deficiency groups (p < 0.001). There was no significant correlation between TSH and iodine excretion (r = 0.01, p > 0.05). Thyroglobulin (Tg) levels were significantly different between all groups (p < 0.001). There was a significant negative correlation between Tg and urinary iodine excretion (r = -0.27, p < 0.001). CONCLUSIONS: Severe and moderate iodine deficiency areas are more prevalent in Turkey than mild and normal iodine concentration areas. In addition to urinary iodine concentration and thyroid volume, height percentile and Tg are also sensitive markers for endemic iodine deficiency. TSH screening should be performed nationwide in Turkey. We recommend compulsory iodination of table and industrial salt.