Work-Related Stress Questionnaire: confirmatory factor analysis for construct validation by the PHRASI study.

OBJECTIVE: The purpose of this study is to validate the 13-item version of the Work-Related Stress Questionnaire (WRSQ) on a representative sample of Italian public health residents. MATERIALS AND METHODS: The WRSQ was administered as part of the Public Health Residents' Anonymous Survey in Italy (PHRASI) from 14 June to 26 July 2022. Collinearity between each questionnaire item was assessed with Kendall's τ statistic. The latent factors identified associating similar items based on the authors' observations were workplace, job demand, support and unpleasant workplace. Goodness-of-fit was assessed with confirmatory factor analysis calculating: Comparative Fit Index (CFI), Tucker-Lewis Index (TLI), Root Mean Square Error of Approximation (RMSEA), Standardized Root-Mean-Residual (SRMR). Cronbach's alpha (α) and Omega McDonald (ω) were calculated to evaluate the reliability of the questionnaire. R 4.2.2 was used to perform the analyses. RESULTS: 379 Public Health residents (58% women) responded to the questionnaire. No significant collinearity was found between the items (τ range -0.31 to 0.49). Confirmatory Factor Analysis showed CFI = 0.975, TLI = 0.967, RMSEA = 0.041 and SRMR = 0.051. Internal consistency of the WRSQ Total Score was α = 0.80 and ω = 0.85. CONCLUSIONS: Although validated in a sectorial subpopulation of healthcare workers, the WRSQ proved to be an excellent tool for assessing work-related stress. Unpleasant workplace latent factors showed lower factor loading and internal consistency than others. This could be due to the fact that topics investigated with unpleasant workplace items (e.g., abuse and discrimination) are experienced on a less regular basis than the ones assessed through the other items.

On Gait Consistency Quantification Through ARX Residual Modeling and Kernel Two-Sample Testing.

OBJECTIVE: The quantification of the way an individual walks is key to the understanding of diseases affecting the neuromuscular system. More specifically, to improve diagnostics and treatment plans, there is a continuous interest in quantifying gait consistency, allowing clinicians to distinguish natural variability of the gait patterns from disease progression or treatment effects. To this end, the current article presents a novel objective method for assessing the consistency of an individual's gait, consisting of two major components. METHODS: Firstly, inertial sensor accelerometer data from both shanks and the lower back is used to fit an AutoRegressive with eXogenous input model. The model residuals are then used as a key feature for gait consistency monitoring. Secondly, the non-parametric maximum mean discrepancy hypothesis test is introduced to measure differences in the distributions of the residuals as a measure of gait consistency. As a paradigmatic case, gait consistency was evaluated both in a single walking test and between tests at different time points in healthy individuals and those affected by multiple sclerosis (MS). RESULTS: It was found that MS patients experienced difficulties maintaining a consistent gait, even when the retest was performed one-hour apart and all external factors were controlled. When the retest was performed one-week apart, both healthy and MS individuals displayed inconsistent gait patterns. CONCLUSION: Gait consistency has been successfully quantified for both healthy and MS individuals. SIGNIFICANCE: This newly proposed approach revealed the detrimental effects of varying assessment conditions on gait pattern consistency, indicating potential masking effects at follow-up assessments.

A wearable multi-sensor system for real world gait analysis.

Gait analysis is commonly performed in standardized environments, but there is a growing interest in assessing gait also in ecological conditions. In this regard, an important limitation is the lack of an accurate mobile gold standard for validating any wearable system, such as continuous monitoring devices mounted on the trunk or wrist. This study therefore deals with the development and validation of a new wearable multi-sensor-based system for digital gait assessment in free-living conditions. In particular, results obtained from five healthy subjects during lab-based and real-world experiments were presented and discussed. The in-lab validation, which assessed the accuracy and reliability of the proposed system, shows median percentage errors smaller than 2% in the estimation of spatio-temporal parameters. The system also proved to be easy to use, comfortable to wear and robust during the out-of-lab acquisitions, showing its feasibility for free-living applications.

Algorithms for Walking Speed Estimation Using a Lower-Back-Worn Inertial Sensor: A Cross-Validation on Speed Ranges.

Walking/gait speed is a key measure for daily mobility characterization. To date, various studies have attempted to design algorithms to estimate walking speed using an inertial sensor worn on the lower back, which is considered as a proper location for activity monitoring in daily life. However, these algorithms were rarely compared and validated on the same datasets, including people with different preferred walking speed. This study implemented several original, improved, and new algorithms for estimating cadence, step length and eventually speed. We designed comprehensive cross-validation to compare the algorithms for walking slow, normal, fast, and using walking aids. We used two datasets, including reference data for algorithm validation from an instrumented mat (40 subjects) and shanks-worn inertial sensors (88 subjects), with normal and impaired walking patterns. The results showed up to 50% performance improvements. Training of algorithms on data from people with different preferred speeds led to better performance. For the slow walkers, an average RMSE of 2.5 steps/min, 0.04 m, and 0.10 m/s were respectively achieved for cadence, step length, and speed estimation. For normal walkers, the errors were 3.5 steps/min, 0.08 m, and 0.12 m/s. An average RMSE of 1.3 steps/min, 0.05 m, and 0.10 m/s were also observed on fast walkers. For people using walking aids, the error significantly increased up to an RMSE of 14 steps/min, 0.18 m, and 0.27 m/s. The results demonstrated the robustness of the proposed combined speed estimation approach for different speed ranges. It achieved an RMSE of 0.10, 0.18, 0.15, and 0.32 m/s for slow, normal, fast, and using walking aids, respectively.

A method for gait events detection based on low spatial resolution pressure insoles data.

The accurate identification of initial and final foot contacts is a crucial prerequisite for obtaining a reliable estimation of spatio-temporal parameters of gait. Well-accepted gold standard techniques in this field are force platforms and instrumented walkways, which provide a direct measure of the foot-ground reaction forces. Nonetheless, these tools are expensive, non-portable and restrict the analysis to laboratory settings. Instrumented insoles with a reduced number of pressure sensing elements might overcome these limitations, but a suitable method for gait events identification has not been adopted yet. The aim of this paper was to present and validate a method aiming at filling such void, as applied to a system including two insoles with 16 pressure sensing elements (element area = 310 mm2), sampling at 100 Hz. Gait events were identified exploiting the sensor redundancy and a cluster-based strategy. The method was tested in the laboratory against force platforms on nine healthy subjects for a total of 801 initial and final contacts. Initial and final contacts were detected with low average errors of (about 20 ms and 10 ms, respectively). Similarly, the errors in estimating stance duration and step duration averaged 20 ms and <10 ms, respectively. By selecting appropriate thresholds, the method may be easily applied to other pressure insoles featuring similar requirements.

Inter-leg Distance Measurement as a Tool for Accurate Step Counting in Patients with Multiple Sclerosis.

Step detection is commonly performed using wearable inertial devices. However, methods based on the extraction of signals features may deteriorate their accuracy when applied to very slow walkers with abnormal gait patterns. The aim of this study is to test and validate an innovative step counter method (DiSC) based on the direct measurement of inter-leg distance. Data were recorded using an innovative wearable system which integrates a magneto-inertial unit and multiple distance sensors (DSs) attached to the shank. The method allowed for the detection of both left and right steps using a single device and was validated on thirteen people affected by multiple sclerosis (0 <; EDSS <; 6.5) while performing a six-minute walking test. Two different measurement ranges for the distance sensor were tested (DS200: 0-200 mm; DS400: 0-400 mm). Accuracy was evaluated by comparing the estimates of the DiSC method against video recordings used as gold standard. Preliminary results showed a good accuracy in detecting steps with half the errors in detecting the step of the instrumented side compared to the non-instrumented (mean absolute percentage error 2.4% vs 4.8% for DS200; mean absolute percentage error 2% vs 5.4% for DS400). When averaging errors across patients, over and under estimation errors were compensated, and very high accuracy was achieved (E%<; 1.2% for DS200; E%<; 0.7% for DS400). DS400 is the suggested configuration for patients walking with a large base of support.

WITHDRAWN: Assessment of the inter-laboratory repeatability of gait analysis measurements in patients with multiple sclerosis.

This article has been withdrawn at the request of the author(s) and/or editor. The Publisher apologizes for any inconvenience this may cause. The full Elsevier Policy on Article Withdrawal can be found at https://www.elsevier.com/about/our-business/policies/article-withdrawal.

Validation of a model-based inverse kinematics approach based on wearable inertial sensors.

Wearable inertial measurement units (IMUs) are a promising solution to human motion estimation. Using IMUs 3D orientations, a model-driven inverse kinematics methodology to estimate joint angles is presented. Estimated joint angles were validated against encoder-measured kinematics (robot) and against marker-based kinematics (passive mechanism). Results are promising, with RMS angular errors respectively lower than 3 and 6 deg over a minimum range of motion of 50 deg (robot) and 160 deg (passive mechanism). Moreover, a noise robustness analysis revealed that the model-driven approach reduces the effects of experimental noises, making the proposed technique particularly suitable for application in human motion analysis.

Prevalencia de factores de riesgo de enfermedad cardiovascular en niños y adolescentes con infección por HIV / Prevalence of risk factors for cardiovascular disease in HIV-infected children and adolescents

Introducción: La exposición prolongada a las drogas en el tratamiento antirretroviral de alta eficacia (HAART) cambió el pronóstico de la enfermedad pero puede generar alteraciones metabólicas y lipodistrofia que aumentan el riesgo de enfermedad cardiovascular precoz (ECVP). En la población pediátrica infectada con HIV los estudios son escasos y las medidas para disminuir el riesgo de ECVP no han sido definidas. Objetivo: investigar la prevalencia de factores de riesgo de ECVP en niños y adolescentes con infección crónica por HIV en un hospital pediátrico de alta complejidad. Material y Métodos: estudio descriptivo, prospectivo, controlado, de corte transversal. Se incluyeron niños con infección vertical por HIV, edad entre 2 y 18 años estratificados según esquema de tratamiento antirretroviral recibido (con y sin Inhibidores de la Proteasa-IP-) y controles seronegativos. Se realizó antropometría, impedanciometría bioeléctrica (BIA)y ecodoppler carotídeo. Se dosó glucemia basal, insulina basal, perfil lipídico, TGO, TGP, recuento de leucocitos y plaquetas, linfocitos TCD4+ y TCD8+, carga viral, proteína C Reactiva cuantitativa de alta sensibilidad. Se consideraron pacientes con riesgo de ECVP a los que presentaron: obesidad, hipertensión arterial, intolerancia a la glucosa/ diabetes, resistencia a la insulina, dislipemia, aumento de proteína C reactiva (PCR) o aumento del grosor arterial. Resultados: Ambos grupos HIV+ presentaron un escore Z para peso, talla y BMI significativamente menor que el grupo control., mientras que la frecuencia de aparición del índice Cintura/Talla con valores patológicos fue significativamente mayor en el grupo HIV+. Utilizando el método clínico de Carr el 18% de los pacientes HIV+ presentaba lipodistrofia, la mayoría de los cuales tenían hipertrigliceridemia. El grupo HIV+ presento un% de masa grasa (MG) mayor y un% de masa libre de grasa (MLG) y masa celular menor que el grupo control medido por BIA. Se constató alta prevalencia de dislipidemia en el grupo HIV+ con niveles medios más altos de Colesterol total, c-LDL, y TG que el grupo control, que fue significativamente mayor en los pacientes expuestos a IP con valores más elevados de colesterol total y c-LDL y mayor frecuencia de alteración del índice CT/HDL y significativamente mayor en el grupo expuesto a IP. No se encontraron diferencias de los niveles medios de glucemia en ayunas, insulina basal ni resistencia a la insulina evaluada por HOMA. En el subgrupo HIV+ estudiado se observó un aumento del espesor de la íntima media carotidea. Conclusión: En un grupo de niños y adolescentes infectados verticalmente por HIV bajo TARV de alta eficacia el peso, talla,% de MLG y MC fue significativamente menor y el% de MG mayor que el grupo control. La alta prevalencia de dislipidemia encontrada en el grupo HIV+, particularmente en aquellos expuestos a IP y el indice Cintura/Talla constituyen factores que aumentarían el riesgo de desarrollar enfermedad cardiovascular precoz (AU)

Introduction: Long-term drug exposure using highly active antirretroviral therapy (HAART) has changed disease prognosis in HIV-infected patients, but may cause metabolic alterations and lipodystrophy increasing the risk of early cardiovascular disease (ECVD). Studies in the population of HIV-infected children are scarce and measures to reduce the risk of ECVD have not been defined. Aim: To investigate the prevalence of risk factors for ECVD in children and adolescents with a chronic HIV-infection in a tertiary pediatric. Material and Methods: A descriptive, prospective, controlled cross-sectional study was conducted. Children with a mother-to-child HIV infection between 2 and 18 years of age, stratified according to HAART regimen received (with or without protease inhibitors (PI)) and seronegative controls were included. Anthropometry, bioelectrical impedance analysis (BIA), and carotid ultrasonography were performed. Baseline glycemia and insulin, lipid profile, ALT, AST, leukocyte and platelet counts, TCD4+ and TCD8+ lymphocytes, viral load, and high-sensitivity quantitative C-reactive protein (CRP) were measured. Patients were considered at high risk for ECVD when they had: obesity, arterial hypertension, glucose intolerance/diabetes, insulin resistance, dyslipidemia, increased CRP, or increased intima-media thickness. Results: Both HIV+ groups presented with significantly lower Z-scores for weight, height, and BMI than the control group, while the prevalence of pathological measures of waist-to-height index was significantly higher in the HIV+ group. Using the clinical method of Carr, 18% of the HIV+ patients presented with lipodistrophy, the majority of whom had hypertriglyceridemia. The HIV+ group had a higher percentage of fat mass (FM) and a lower percentage of fat-free mass (FFM) and cell mass (CM) than the control group measured by BIA. A high prevalence of dyslipidemia was found in the HIV+ group with higher mean total cholesterol, LDLcholesterol, and TG levels than in the control group. This prevalence was significantly higher in patients receiving PI, with increased levels of total cholesterol and LDL-cholesterol and a higher rate of alteration of the total cholesterol/HDL ratio. No differences were found in mean fasting glycemia, baseline insulin, or insulin resistance levels assessed using HOMA. In the HIV+ PI subgroup, increased carotid intima-media thickness was observed. Conclusion: In a group of vertically HIV-infected children on HAART, weight, height, percentage of FFM and CM were significantly lower and percentage of FM was significantly higher than in the control group. The high prevalence of dyslipidemia found in the HIV+ group, particularly in those exposed to PI, as well as the higher waist-to-height index increase the risk of developing ECVD (AU)

Pattern formation in auxin flux.

The plant hormone auxin is fundamental for plant growth, and its spatial distribution in plant tissues is critical for plant morphogenesis. We consider a leading model of the polar auxin flux, and study in full detail the stability of the possible equilibrium configurations. We show that the critical states of the auxin transport process are composed of basic building blocks, which are isolated in a background of auxin depleted cells, and are not geometrically regular in general. The same model was considered recently through a continuous limit and a coupling to the von Karman equations, to model the interplay of biochemistry and mechanics during plant growth. Our conclusions might be of interest in this setting, since, for example, we establish the existence of Lyapunov functions for the auxin flux, proving in this way the convergence of pure transport processes toward the set of equilibrium points.

Randomized clinical trial comparing survival after D1 or D2 gastrectomy for gastric cancer.

BACKGROUND: It is still unclear whether D2 lymphadenectomy improves the survival of patients with gastric cancer and should therefore be performed routinely or selectively. The aim of this multicentre randomized trial was to compare D2 and D1 lymphadenectomy in the treatment of gastric cancer. METHODS: Between June 1998 and December 2006, patients with gastric adenocarcinoma were assigned randomly to either D1 or D2 gastrectomy. Intraoperative randomization was implemented centrally by telephone. Primary outcome was overall survival; secondary endpoints were disease-specific survival, morbidity and postoperative mortality. RESULTS: A total of 267 eligible patients were allocated to either D1 (133 patients) or D2 (134) resection. Morbidity (12.0 versus 17.9 per cent respectively; P = 0.183) and operative mortality (3.0 versus 2.2 per cent; P = 0.725) rates did not differ significantly between the groups. Median follow-up was 8.8 (range 4.5-13.1) years for surviving patients and 2.4 (0.2-11.9) years for those who died, and was not different in the two treatment arms. There was no difference in the overall 5-year survival rate (66.5 versus 64.2 per cent for D1 and D2 lymphadenectomy respectively; P = 0.695). Subgroup analyses showed a 5-year disease-specific survival benefit for patients with pathological tumour (pT) 1 disease in the D1 group (98 per cent versus 83 per cent for the D2 group; P = 0.015), and for patients with pT2-4 status and positive lymph nodes in the D2 group (59 per cent versus 38 per cent for the D1 group; P = 0.055). CONCLUSION: No difference was found in overall 5-year survival between D1 and D2 resection. Subgroup analyses suggest that D2 lymphadenectomy may be a better choice in patients with advanced disease and lymph node metastases. REGISTRATION NUMBER: ISRCTN11154654 (http://www.controlled-trials.com).

Uso de ezetimibe en el tratamiento de la hipercolesterolemia / Use of ezetimibe in the treatment of familial hypercholesterolemia in children and adolescents

La hipecolesterolemia familiar es el tipo de hiperlipidemia primaria hereditaria más frecuente y se asocia con una mayor prevalencia de enfermedad cardiovascular temprana. El ezetimibe reduce el LDL inhibiendo la absorción de esteroles en el enterocito. Objetivo: Mostrar nuestra experiencia en el uso de ezetimibe para el tratamiento de niños y adolescentes con hipercolesterolemia familiar heterocigota, en el corto y mediano plazo. M y M: Estudio longitudinal, retrospectivo, modelo antes-después donde cada paciente fue su propio control. Se incluyeron todos los pacientes que recibieron ezetimibe desde enero 2003 a diciembre 2009. Los pacientes cumplieron un período previo de 6 meses de dieta hipolipemiante y recomendaciones de actividad física. La eficacia se midió según la variación del LDL luego de3 meses de tratamiento. Se midieron los niveles de transaminasas y creatinfosfoquinasa antes y cada 3 meses durante el tratamiento. Se registraron los síntomas y efectos colaterales asociados con la administración de ezetimibe. Los pacientes que alcanzaron los objetivos terapéuticos continuaron con ezetimibe como monodroga, los que no, agregaron estatinas. Resultados: Se incluyeron 32 pacientes con edad media de 9,5 años (rango: 2-15,5). El tiempo total de seguimiento fue de 2,45 años (0,4-5,9 a). Luego de 3 meses de ezetimibe el LDL disminuyó un 25,7%. No se observaron efectos adversos durante el tratamiento como monoterapia. Al final del estudio, 11 pacientes habían agregado estatinas a su tratamiento por no haber alcanzado los objetivos. Conclusión: El ezetimibe resultó ser efectivo y seguro en niños y adolescentes con HF a corto y mediano plazo(AU)

Heterozygous familial hypercholesterolemia (FH) is the most common inherited type of primary hyperlipidemia. Patients with familial hypercholesterolemia have an increased level of LDL cholesterol since childhood, and present early associated cardiovascular disease. Ezetimibe reduces LDL by blocking sterol absorption in enterocytes. Aim: to show our experience on the use of ezetimibe in children and adolescents with familial hypercholesterolemia, with short and medium term follow-up. Patients and Methods: Retrospective and longitudinal study. Patients who were receiving ezetimibe as monotherapy from 2003 to 2009 were included. The primary efficacy parameter was the effect of ezetimibe on the LDL after three months of treatment. Serum levels of aspartate aminotransferase, alanine aminotransferase and creatine kinase were monitored. Patients were asked if they experienced any side effect with the ezetimibe treatment. If the Patients did not achieve therapeutical goals with ezetimibe as monotherapy a statin was added. Outcome at medium term follow-up is analysed. Results: The study included a total of 32 patients. The mean age at the start of ezetimibe was 9.5 years (range: 2 to 15.5). The mean total time of Ezetimibe was 2.45 years (r: 0.4 - 5.9).The decrease in mean LDL levels was -25.7%±12.3 or 59.5±34 mg% (P<.0001; 95% CI: 47.3-71.5, t test). There were no side effects with ezetimibe monotherapy. At the end of the study, 11patients required added statins due to failing to achieve the treatment goal. Conclusions: Ezetimibe is effective and safe for children and adolescents with FH in short and medium term follow-up(AU)

Molecular background and genotype-phenotype correlation in autoimmune-polyendocrinopathy-candidiasis-ectodermal-distrophy patients from Campania and in their relatives.

BACKGROUND: Autoimmune-polyendocrinopathy-candidiasis- ectodermal-distrophy (APECED) is a recessive disease, caused by mutations in the AutoImmune REgulator (AIRE) gene. Different mutations are peculiar of particular populations. In Italy, 3 hot spots areas where APECED shows an increased prevalence, have been identified in Sardinia, Apulia, and in the Venetian region. AIM: In this study, we analyzed AIRE mutations and genotype-phenotype correlation in APECED patients originating from Campania and in their relatives. PATIENTS AND METHODS: In 6 patients affected with APECED clinical findings, genetic analysis of AIRE, and APECED-related autoantibodies were performed. RESULTS: All patients carried at least 1 mutation on exon 1 or on splice-site flanking exon 1. Two siblings carried a complex homozygous mutation [IVS1 + 1G>C; IVS1 + 5delG] on intron 1; 2 patients were compound heterozygous for [T16M]+[W78R] (exons 1+2); 1 patient was compound heterozygous for [A21V]+[C322fs] (exons 1+8) and another was homozygous for [T16M]+[T16M] on exon 1. Expression of the disease showed wide variability while circulating autoantibodies paralleled to phenotype in each patient. Analysis of relatives allowed the identification of 8 heterozygotes. None of heterozygous subjects presented major findings of APECED. CONCLUSIONS: Mutations localized on exon 1 and the region flanking exon 1 are common in APECED patients originating from Campania. Genotype-phenotype correlation failed to reveal a relationship between detected mutations and clinical expression. Mutations in heterozygosis in AIRE gene are not associated to major findings of APECED.

[Use of ezetimibe in the treatment of familial hypercholesterolemia in children and adolescents]. / Uso de ezetimibe en el tratamiento de la hipercolesterolemia.

UNLABELLED: Heterozygous familial hypercholesterolemia (FH) is the most common inherited type of primary hyperlipidemia. Patients with familial hypercholesterolemia have an increased level of LDL cholesterol since childhood, and present early associated cardiovascular disease. Ezetimibe reduces LDL by blocking sterol absorption in enterocytes. AIM: to show our experience on the use of ezetimibe in children and adolescents with familial hypercholesterolemia, with short and medium term follow-up. PATIENTS AND METHODS: Retrospective and longitudinal study. Patients who were receiving ezetimibe as monotherapy from 2003 to 2009 were included. The primary efficacy parameter was the effect of ezetimibe on the LDL after three months of treatment. Serum levels of aspartate aminotransferase, alanine aminotransferase and creatine kinase were monitored. Patients were asked if they experienced any side effect with the ezetimibe treatment. If the Patients did not achieve therapeutical goals with ezetimibe as monotherapy a statin was added. Outcome at medium term follow-up is analysed. RESULTS: The study included a total of 32 patients. The mean age at the start of ezetimibe was 9.5 years (range: 2 to 15.5). The mean total time of Ezetimibe was 2.45 years (r: 0.4 - 5.9).The decrease in mean LDL levels was -25.7% ± 12.3 or 59.5 ± 34 mg% (P<.0001; 95% CI: 47.3-71.5, t test). There were no side effects with ezetimibe monotherapy. At the end of the study, 11 patients required added statins due to failing to achieve the treatment goal. CONCLUSIONS: Ezetimibe is effective and safe for children and adolescents with FH in short and medium term follow-up.

Estudio multicéntrico de prevalencia de síndrome metabólico en dos poblaciones de adolescentes con sobrepeso /obesidad y normopeso de 7 provincias de Argentina / Multicenter study on the prevalence of the metabolic syndrome in overweight/obesity and normal-weight adolescents in 7 provinces in Argentina

La obesidad y el síndrome metabólico (SM) epresentan un problema de Salud Pública. Objetivo: estimar a prevalencia y distribución del SM en adolescentes on sobrepeso/ obesidad (SP/OB) y normopesos (NP) y examinar variables asociadas a SM y sus componentes. métodos: estudio comparativo transversal, en dos grupos e adolescentes de 10 a 19 años de 7 provincias argentinas. se realizó una encuesta social, demográfica, de hábitos alimentarios, de actividad física (AF), examen físico y determinamos indicadores antropométricos y bioquímicos. resultados: se evaluó a 1.009 adolescentes, 398 varones (39,4%), 601 (59,6%) controles (NP) y 408 (40,4%) casos (SP/OB). La prevalencia de SM en los SP/OB fue de 40,3%. No estuvo presente en los NP. Se encontraron diferencias significativas para: antecedentes familiares de SP/OB, peso de nacimiento (PN), edad de la menarca, presencia de acantosis nigricans (AN), circunferencia de cintura (CC) mayor al punto de corte y las variables metabólicas de laboratorio. Los SP/OB presentaron mayor proporción de componentes de SM (3,7% hiperglucemia basal, 27,9% hiperinsulinemia, 53,2% HOMA elevado, 45,6% HDL bajo, 37,7% TG altos y 13,5% HTA). La CC correlacionó positivamente con: TA, TG, insulina, HOMA y el Score Z de IMC y negativamente con HDL. Todos los pacientes estudiados presentaron malos hábitos alimentarios y los adolescentes con SM menor tiempo de AF. Conclusiones: la obesidad es un determinante del SM (40%) y la grasa corporal central se asocia con sus componentes...

PTX3 genetic variations affect the risk of Pseudomonas aeruginosa airway colonization in cystic fibrosis patients.

Cystic fibrosis (CF) is a common life-threatening autosomal recessive disorder in the Caucasian population, and the gene responsible is the CF transmembrane conductance regulator (CFTR). Patients with CF have repeated bacterial infection of the airways caused by Pseudomonas aeruginosa (PA), which is one of the predominant pathogen, and endobronchial chronic infection represents a major cause of morbidity and mortality. Pentraxin 3 (PTX3) is a gene that encodes the antimicrobial protein, PTX3, which is believed to have an important role in innate immunity of lung. To address the role of PTX3 in the risk of PA lung colonization, we investigated five single nucleotide polymorphisms of PTX3 gene in 172 Caucasian CF patients who were homozygous for the F508del mutation. We observed that PTX3 haplotype frequencies were significantly different between patients with PA colonization, as compared with noncolonized patients. Moreover, a protective effect was found in association with a specific haplotype (odds ratio 0.524). Our data suggest that variations within PTX3 affect lung colonization of Pseudomonas in patients with CF.