The Gilles de la Tourette Syndrome-Quality of Life Scale for children and adolescents (C&A-GTS-QOL):development and validation of the Italian version

BACKGROUND: Gilles de la Tourette syndrome (GTS) is a chronic childhood-onset neuropsychiatric disorder with a significant impact on patients' health-related quality of life (HR-QOL). Cavanna et al. (Neurology 2008; 71: 1410-1416) developed and validated the first disease-specific HR-QOL assessment tool for adults with GTS (Gilles de la Tourette Syndrome-Quality of Life Scale, GTS-QOL). This paper presents the translation, adaptation and validation of the GTS-QOL for young Italian patients with GTS. METHODS: A three-stage process involving 75 patients with GTS recruited through three Departments of Child and Adolescent Neuropsychiatry in Italy led to the development of a 27-item instrument (Gilles de la Tourette Syndrome-Quality of Life Scale in children and adolescents, C&A-GTS-QOL) for the assessment of HR-QOL through a clinician-rated interview for 6-12 year-olds and a self-report questionnaire for 13-18 year-olds. RESULTS: The C&A-GTS-QOL demonstrated satisfactory scaling assumptions and acceptability. Internal consistency reliability was high (Cronbach's alpha > 0.7) and validity was supported by interscale correlations (range 0.4-0.7), principal-component factor analysis and correlations with other rating scales and clinical variables. CONCLUSIONS: The present version of the C&A-GTS-QOL is the first disease-specific HR-QOL tool for Italian young patients with GTS, satisfying criteria for acceptability, reliability and validity. © 2013 - IOS Press and the authors. All rights reserved.

Evaluation efficiency of large-scale data set with negative data:an artificial neural network approach

Data envelopment analysis (DEA) is the most widely used methods for measuring the efficiency and productivity of decision-making units (DMUs). The need for huge computer resources in terms of memory and CPU time in DEA is inevitable for a large-scale data set, especially with negative measures. In recent years, wide ranges of studies have been conducted in the area of artificial neural network and DEA combined methods. In this study, a supervised feed-forward neural network is proposed to evaluate the efficiency and productivity of large-scale data sets with negative values in contrast to the corresponding DEA method. Results indicate that the proposed network has some computational advantages over the corresponding DEA models; therefore, it can be considered as a useful tool for measuring the efficiency of DMUs with (large-scale) negative data.

Genetic Predictors Of Long-term Response To Growth Hormone (gh) Therapy In Children With Gh Deficiency And Turner Syndrome: The Influence Of A Socs2 Polymorphism.

There is great interindividual variability in the response to GH therapy. Ascertaining genetic factors can improve the accuracy of growth response predictions. Suppressor of cytokine signaling (SOCS)-2 is an intracellular negative regulator of GH receptor (GHR) signaling. The objective of the study was to assess the influence of a SOCS2 polymorphism (rs3782415) and its interactive effect with GHR exon 3 and -202 A/C IGFBP3 (rs2854744) polymorphisms on adult height of patients treated with recombinant human GH (rhGH). Genotypes were correlated with adult height data of 65 Turner syndrome (TS) and 47 GH deficiency (GHD) patients treated with rhGH, by multiple linear regressions. Generalized multifactor dimensionality reduction was used to evaluate gene-gene interactions. Baseline clinical data were indistinguishable among patients with different genotypes. Adult height SD scores of patients with at least one SOCS2 single-nucleotide polymorphism rs3782415-C were 0.7 higher than those homozygous for the T allele (P < .001). SOCS2 (P = .003), GHR-exon 3 (P= .016) and -202 A/C IGFBP3 (P = .013) polymorphisms, together with clinical factors accounted for 58% of the variability in adult height and 82% of the total height SD score gain. Patients harboring any two negative genotypes in these three different loci (homozygosity for SOCS2 T allele; the GHR exon 3 full-length allele and/or the -202C-IGFBP3 allele) were more likely to achieve an adult height at the lower quartile (odds ratio of 13.3; 95% confidence interval of 3.2-54.2, P = .0001). The SOCS2 polymorphism (rs3782415) has an influence on the adult height of children with TS and GHD after long-term rhGH therapy. Polymorphisms located in GHR, IGFBP3, and SOCS2 loci have an influence on the growth outcomes of TS and GHD patients treated with rhGH. The use of these genetic markers could identify among rhGH-treated patients those who are genetically predisposed to have less favorable outcomes.

Two-dimensional Ultrasound And Ultrasound Elastography Imaging Of Trigger Points In Women With Myofascial Pain Syndrome Treated By Acupuncture And Electroacupuncture: A Double-blinded Randomized Controlled Pilot Study.

Chronic pain has been often associated with myofascial pain syndrome (MPS), which is determined by myofascial trigger points (MTrP). New features have been tested for MTrP diagnosis. The aim of this study was to evaluate two-dimensional ultrasonography (2D US) and ultrasound elastography (UE) images and elastograms of upper trapezius MTrP during electroacupuncture (EA) and acupuncture (AC) treatment. 24 women participated, aged between 20 and 40 years (M ± SD = 27.33 ± 5.05) with a body mass index ranging from 18.03 to 27.59 kg/m2 (22.59 ± 3.11), a regular menstrual cycle, at least one active MTrP at both right (RTPz) and left trapezius (LTPz) and local or referred pain for up to six months. Subjects were randomized into EA and AC treatment groups and the control sham AC (SHAM) group. Intensity of pain was assessed by visual analogue scale; MTrP mean area and strain ratio (SR) by 2D US and UE. A significant decrease of intensity in general, RTPz, and LTPz pain was observed in the EA group (p = 0.027; p < 0.001; p = 0.005, respectively) and in general pain in the AC group (p < 0.001). Decreased MTrP area in RTPz and LTPz were observed in AC (p < 0.001) and EA groups (RTPz, p = 0.003; LTPz, p = 0.005). Post-treatment SR in RTPz and LTPz was lower than pre-treatment in both treatment groups. 2D US and UE effectively characterized MTrP and surrounding tissue, pointing to the possibility of objective confirmation of subjective EA and AC treatment effects.

A New Mouse Model for Marfan Syndrome Presents Phenotypic Variability Associated with the Genetic Background and Overall Levels of Fbn1 Expression

Marfan syndrome is an autosomal dominant disease of connective tissue caused by mutations in the fibrillin-1 encoding gene FBN1. Patients present cardiovascular, ocular and skeletal manifestations, and although being fully penetrant, MFS is characterized by a wide clinical variability both within and between families. Here we describe a new mouse model of MFS that recapitulates the clinical heterogeneity of the syndrome in humans. Heterozygotes for the mutant Fbn1 allele mg Delta(loxPneo), carrying the same internal deletion of exons 19-24 as the mg Delta mouse model, present defective microfibrillar deposition, emphysema, deterioration of aortic wall and kyphosis. However, the onset of a clinical phenotypes is earlier in the 129/Sv than in C57BL/6 background, indicating the existence of genetic modifiers of MFS between these two mouse strains. In addition, we characterized a wide clinical variability within the 129/Sv congenic heterozygotes, suggesting involvement of epigenetic factors in disease severity. Finally, we show a strong negative correlation between overall levels of Fbn1 expression and the severity of the phenotypes, corroborating the suggested protective role of normal fibrillin-1 in MFS pathogenesis, and supporting the development of therapies based on increasing Fbn1 expression.

Low-Level Laser Therapy in Burning Mouth Syndrome Patients: A Pilot Study

Objective: The aim of this study was to investigate the effect of low-level laser therapy (LLLT) on the treatment of burning mouth syndrome (BMS). In addition, the laser effect was compared on the different affected oral sites. Materials and Methods: Eleven subjects with a total of 25 sites (tongue, lower lip, upper lip, and palate) affected by a burning sensation were selected. The affected areas were irradiated once a week for three consecutive weeks with an infrared laser (lambda = 790 nm). The probe was kept in contact with the tissue, and the mucosal surface was scanned during the irradiation. The exposure time was calculated based on the fluence of 6 J/cm(2), the output power of 120 mW, and the area to be treated. Burning intensity was recorded through a visual analog scale before and after the treatment and at the 6-week follow-up. The percentage of the improvement in symptoms was also obtained. Results: Burning intensity at the end of the laser therapy was statistically lower than at the beginning (p < 0.01). Patients reported an 80.4% reduction in the intensity of symptoms after laser treatment. There was no statistical difference between the end of the treatment and the 6-week follow-up, except for the tongue site. Conclusion: Under the investigated parameters, infrared LLLT proved to be a valuable alternative for BMS treatment, providing a significant and lasting reduction in symptoms.

Psychogenetics of Turner syndrome: an investigation of 28 subjects and respective controls using the Bender test and Piagetian scales

Piagetian scales and the Bender visual motor gestalt test (BT) were applied to 28 subjects with universal 45, X Turner syndrome (TS), and their respective controls, in order to investigate their cognitive performance. Dermatoglyphics were also analyzed to obtain clues concerning embryological changes that may have appeared during development of the nervous system and could be associated with cognitive performance of TS patients. Dermatoglyphic pattern distribution was similar to that reported in previous studies of TS individuals: ulnar loops in the digital patterns and finger ridge, a-b, and A'-d counts were more frequent, while arch and whorl patterns were less frequent compared to controls. However, we did not find higher frequencies of hypothenar pattern, maximum atd angle, and ulnarity index in our TS subjects, unlike other investigations. Furthermore, we found significant differences between TS and control T line index values. The BT scores were also lower in probands, as has been previously reported, revealing a neurocognitive deficit of visual motor perception in TS individuals, which could be due to an absence of, or deficiency in, cerebral hemispheric lateralization. However, TS subjects seemed to improve their performance on BT with age. Cognitive performance of the TS subjects was not significantly different from that of controls, confirming a previous study in which TS performance was found to be similar to that of the normal Brazilian population. There were significant correlations between BT scores and Piagetian scale levels with dermatoglyphic parameters. This association could be explained by changes in the common ectodermal origin of the epidermis and the central nervous system. TS subjects seem to succeed in compensating their spatial impairments in adapting their cognitive and social contacts. We concluded that genetic counseling should consider cognitive and psychosocial difficulties presented by TS subjects, providing appropriate treatment and orientation for them and their families.

Enzymatic Resolution of Racemic Sulcatol by Lipase from Candida Antarctica in a Large Scale

Large scale enzymatic resolution of racemic sulcatol 2 has been useful for stereoselective biocatalysis. This reaction was fast and selective, using vinyl acetate as donor of acyl group and lipase from Candida antarctica (CALB) as catalyst. The large scale reaction (5.0 g, 39 mmol) afforded high optical purities for S-(+)-sulcatol 2 and R-(+)-sulcatyl acetate 3, i.e., ee > 99 per cent and good yields (45 per cent) within a short time (40 min). Thermodynamic parameters for the chemoesterification of sulcatol 2 by vinyl acetate were evaluated. The enthalpy and Gibbs free energy values of this reaction were negative, indicating that this process is exothermic and spontaneous which is in agreement with the reaction obtained enzymatically.

Predictive Validity of Waterlow Scale for Pressure Ulcer Development Risk in Hospitalized Patients

AIM: We sought to evaluate the predictive validity of the Waterlow Scale in hospitalized patients. SUBJECTS AND SETTING: The study was conducted at a general private hospital with 220 beds and a mean time of hospitalization of 7.4 days and a mean occupation rate of approximately 80%. Adult patients with a Braden Scale score of 18 or less and a Waterlow Scale score of 16 or more were studied. The sample consisted of 98 patients with a mean age of 71.1 +/- 15.5 years. METHODS: Skin assessment and scoring by using the Waterlow and Braden scales were completed on alternate days. Patients were examined at least 3 times to be considered for analysis. The data were submitted to sensitivity and specificity analysis by using receiver operating characteristic (ROC) curves and positive (+LR) and negative (-LR) likelihood ratios. RESULTS: The cutoff scores were 17, 20, and 20 in the first, second, and third assessment, respectively. Sensitivity was 71.4%, 85.7%, and 85.7% and specificity was 67.0%, 40.7%, and 32.9%, respectively. Analysis of the area under the ROC curve revealed good accuracy (0.64, 95% confidence interval [CI]: 0.35-0.93) only for the cutoff score 17 in the first assessment. The results also showed probabilities of 14%, 10%, and 9% for the development of pressure ulcer when the test results were positive (+LR) and of 3% (-LR) when the test results were negative for the cutoff scores in the first, second, and third assessment, respectively. CONCLUSION: The Waterlow Scale achieved good predictive validity in predicting pressure ulcer in hospitalized patients when a cutoff score of 17 was used in the first assessment.

The cultural adaptation and validation of the ""Burn Specific Health Scale-Revised"" (BSHS-R): Version for Brazilian burn victims

Background: The Burns Specific Health Scale-Revised (BSHS-R) is of easy application, can be self-administered, and it is considered a good scale to evaluate various important life aspects of burn victims. Objectives: To translate and culturally adapt the BSHS-R into the Brazilian-Portuguese language and to evaluate the internal consistency and convergent validity of the translated BSHS-R. Methods: The cultural adaptation of the BSHS-R included translation and back-translation, discussions with professionals and patients to ensure conceptual equivalence, semantic evaluation, and pre-test of the instrument. The Final Brazilian-Portuguese Version (FBPV) of the BSHS-R was tested on a group of 115 burn patients for internal consistency and validity of construct (using the Rosenberg Self-Esteem Scale (RSES) and the Beck Depression Inventory (BDI)). Results: All values of Cronbach`s alpha were greater than. 8, demonstrating that the internal consistency of the FBPV was very high. Self-esteem was highly correlated with affect and body image (r = .59, p < .001), and with interpersonal relationships (T = .51, p < .001). Correlations between the domains of the FBPV and the BDI were all negative but larger in magnitude than the correlations with RSES. Depression was highly correlated with affect and body image (r = -77, p < .001), and with interpersonal relationships (r = -67, p < .001). Conclusions: The results showed that the adapted version of the BSHS-R into Brazilian-Portuguese fulfills the validity and reliability criteria required from an instrument of health status assessment for burn patients. (C) 2008 Elsevier Ltd and ISBI. All rights reserved.

Reliability and validity of the Impact of Event Scale (IES): version for Brazilian burn victims

Aims. The aims of this study were to assess the internal reliability (internal consistency), construct validity, sensitivity and ceiling and floor effects of the Brazilian-Portuguese version of the Impact of Event Scale (IES). Design. Methodological research design. Method. The Brazilian-Portuguese version of the IES was applied to a group of 91 burned patients at three times: the first week after the burn injury (time one), between the fourth and the sixth months (time two) and between the ninth and the 12th months (time three). The internal consistency, construct validity (convergent and dimensionality), sensitivity and ceiling and floor effects were tested. Results. Cronbach`s alpha coefficients showed high internal consistency for the total scale (0 center dot 87) and for the domains intrusive thoughts (0 center dot 87) and avoidance responses (0 center dot 76). During the hospitalisation (time one), the scale showed low and positive correlations with pain measures immediately before (r = 0 center dot 22; p < 0 center dot 05) and immediately after baths and dressings (r = 0 center dot 21; p < 0 center dot 05). After the discharge, we found strong and negative correlations with self-esteem (r = -0 center dot 52; p < 0 center dot 01), strong and positive with depression (r = 0 center dot 63; p < 0 center dot 01) and low and negative with the Bodily pain (r = -0 center dot 24; p < 0 center dot 05), Social functioning (r = -0 center dot 34; p < 0 center dot 01) and Mental health (r = -0 center dot 27; p < 0 center dot 05) domains of the SF-36 at time two. Regarding the sensitivity, no statistically significant differences were observed between mean scale scores according to burned body surface (p = 0 center dot 21). The floor effect was observed in most of the IES items. Conclusion. The adapted version of the scale showed to be reliable and valid to assess postburn reactions on the impact of the event in the group of patients under analysis. Relevance to clinical practice. The Impact of Event Scale can be used in research and clinical practice to assess nursing interventions aimed at decreasing stress during rehabilitation.

Biomarkers of metabolic syndrome and its relationship with the zinc nutritional status in obese women

Introduction: Obesity is a chronic disease that induces risk factors for metabolic syndrome and, is associated with disturbances in the metabolism of the zinc. Therefore, the aim of this study was to investigate the existence of relationship between the biomarkers of metabolic syndrome and the zinc nutricional status in obese women. Method: Seventy-three premenopausal women, aged between 20 and 50 years, were divided into two groups: case group, composed of obese (n = 37) and control group, composed of no obese (n = 36). The assessment of the body mass index and waist circumference were carried out using anthropometric measurements. The plasmatic and erythrocytary zinc were analyzed by method atomic absorption spectrophotometry (lambda=213.9 nm). Results: In the study, body mass index and waist circumference were higher in obese women than control group (p < 0.05). The mean plasmatic zinc was 72.2 +/- 9.0 mu g/dl in obese women and 73.4 +/- 8.5 mu g/dl in control group (p > 0.05). The mean erythrocytary zinc was 36.4 +/- 15.0 mu g/gHb and 45.4 +/- 14.3 mu g/gHb in the obese and controls, respectively (p < 0.05). Regression analysis showed that the body mass index (t=-2.85) and waist circumference (t=-2.37) have a negative relationship only with the erythrocytary zinc (R(2)=0.32, p < 0.05). Conclusions: The study shows that there are alterations in biochemical parameters of zinc in obese women, with low zinc concentrations in erythrocytes. Regression analysis demonstrates that the erythrocytary zinc is influenced by biomarkers of the metabolic syndrome, presenting an inverse relationship with the waist circumference and body mass index.

Employee adjustment to large-scale organisational change

The present study was designed to test the utility of a stress-coping model of employee adjustment to organisational change. Specifically, it was proposed that employee adjustment to this type of work stress would be influenced by the characteristics of the change situation, employees' appraisals of the situation, their coping strategies, and the extent of their personal resources. Data were collected from 140 middle managers and supervisors involved in a large-scale public sector integration. The results of the research provided some support for the proposed model: high levels of psychological distress were related to a reliance on informal sources of information, high appraised stress, low appraised certainty, and the use of avoidant rather than problem-focused strategies, whereas poor social functioning was associated with low self-esteem, high levels or disruption across the period of change, a reliance on informal sources of information, and the use of avoidant coping strategies. There was no evidence that coping strategies mediated the effects of the event characteristics, situational appraisals, and personal resources on adjustment; however, there was some evidence linking these variables to coping strategies, in particular, problem-focused coping. There was also some evidence to indicate that the experience of organisational change was different for managers and supervisors: levels of threat were higher for the managers than the supervisors, but there was no difference between the groups of employees in terms of adjustment.

Sleep Quality and Quality of Life in Patients with Hypertrophic Cardiomyopathy

Objectives: To evaluate clinical predictors of poor sleep quality and quality of life (QOL) in patients with hypertrophic cardiomyopathy (HCM). Methods: Consecutive stable patients with HCM were evaluated for the risk of obstructive sleep apnea (OSA) by the Berlin Questionnaire, daytime sleepiness by the Epworth Sleepiness Scale, sleep quality by the Pittsburgh Sleep Questionnaire Index and QOL by the Minnesota Living with Heart Failure Questionnaire. Asymptomatic subjects without HCM were used as controls. Results: We studied 84 patients with HCM and 42 controls who were similar with regard to gender (49 vs. 50% males), age [52 (38-62) vs. 47 (33-58) years] and body mass index (27 +/- 4 vs. 27 +/- 5). HCM diagnosis, high risk for OSA and female gender were independently associated with poor sleep quality in the entire population. Among patients with HCM, poor QOL was independently associated with poor sleep quality, New York Heart Association functional class and diuretic therapy. Conclusion: Poor sleep quality is very common in patients with HCM and may have a negative impact on the QOL, which in turn is an important marker of prognosis in patients with cardiomyopathies. Copyright (C) 2010 S. Karger AG, Basel

Fibromyalgia in primary antiphospholipid (Hughes) syndrome

Fibromyalgia (FM) is a syndrome that can be associated with several rheumatic diseases. However, no study has evaluated its frequency in patients with primary antiphospholipid syndrome (PAPS). The objective of this study was to analyze the frequency of FM in PAPS patients compared with healthy controls, to determine the possible associations between FM and PAPS features, and also to evaluate quality of life and depression in these patients. This case-control study included 30 PAPS patients (by the Sapporo criteria) and 40 healthy subjects. Demographic and clinical data, drug use, and antiphospholipid antibodies were analyzed. FM was diagnosed based on international criteria (ACR). Questionnaires on quality of life, including the Short Form 36 Health Survey (SF-36), Beck Depression Inventory (BDI), Fibromyalgia Impact Questionnaire (FIQ), and Visual Analog Scale (VAS), were also applied. PAPS patients and controls were similar in mean age as well as in distributions of gender and Caucasian race. Mean disease duration was 5.4 +/- 4.2 years. A diagnosis of fibromyalgia was made in five (16.7%) PAPS patients and no controls (p = 0.012). PAPS patients had more diffuse pain (53% vs. 0%, respectively, p<0.0001), >= 11 tender points (23% vs. 5%, respectively, p = 0.032), and a greater total number (175 vs. 57, respectively, p<0.0001) as well as median number of tender points per patient than controls (5 [0-18] vs. 0 [0-11], respectively, p<0.0001). PAPS patients had lower values in all dimensions of the SF-36, as well as higher FIQ scores, higher BDI scores, more depression diagnoses according to BDI results, and increased VAS in comparison with controls. Analysis of PAPS patients with FM compared with those subjects without FM revealed no significant differences regarding demographic features or thrombotic or clinical events; however, PAPS patients who also had FM had lower values in SF-36 dimensions as well as higher FIQ (82.6 +/- 9.6 vs. 33.6 +/- 29.8, respectively, p<0.0001) and VAS scores (6.6 +/- 2.97 vs. 3.25 +/- 3.11, respectively, p = 0.03). BDI scores, in contrast, were similar in both groups. In conclusion, one-fifth of PAPS patients had fibromyalgia and a low quality of life when compared with healthy subjects. Lupus (2011) 20, 1182-1186.