High prevalence of the metabolic syndrome in HIV-infected patients: impact of different definitions of the metabolic syndrome.

INTRODUCTION: This study describes the characteristics of the metabolic syndrome in HIV-positive patients in the Data Collection on Adverse Events of Anti-HIV Drugs study and discusses the impact of different methodological approaches on estimates of the prevalence of metabolic syndrome over time. METHODS: We described the prevalence of the metabolic syndrome in patients under follow-up at the end of six calendar periods from 2000 to 2007. The definition that was used for the metabolic syndrome was modified to take account of the use of lipid-lowering and antihypertensive medication, measurement variability and missing values, and assessed the impact of these modifications on the estimated prevalence. RESULTS: For all definitions considered, there was an increasing prevalence of the metabolic syndrome over time, although the prevalence estimates themselves varied widely. Using our primary definition, we found an increase in prevalence from 19.4% in 2000/2001 to 41.6% in 2006/2007. Modification of the definition to incorporate antihypertensive and lipid-lowering medication had relatively little impact on the prevalence estimates, as did modification to allow for missing data. In contrast, modification to allow the metabolic syndrome to be reversible and to allow for measurement variability lowered prevalence estimates substantially. DISCUSSION: The prevalence of the metabolic syndrome in cohort studies is largely based on the use of nonstandardized measurements as they are captured in daily clinical care. As a result, bias is easily introduced, particularly when measurements are both highly variable and may be missing. We suggest that the prevalence of the metabolic syndrome in cohort studies should be based on two consecutive measurements of the laboratory components in the syndrome definition.

Hirschsprung's disease prevalence in Europe: A register based study.

BACKGROUND: Hirschsprung's disease is a congenital gut motility disorder, characterised by the absence of the enteric ganglion cells along the distal gut. The aim of this study was to describe the epidemiology of Hirschsprung's disease, including additional congenital anomalies, total prevalence, trends, and association with maternal age. METHODS: Cases of Hirschsprung's disease delivered during 1980 to 2009 notified to 31 European Surveillance of Congenital Anomaly registers formed the population-based case-series. Prevalence rates and 95% confidence intervals were calculated as the number of cases per 10,000 births. Multilevel Poisson regression was performed to investigate trends in prevalence, geographical variation and the association with maternal age. RESULTS: There were 1,322 cases of Hirschsprung's disease among 12,146,210 births. The total prevalence was 1.09 (95% confidence interval, 1.03-1.15) per 10,000 births and there was a small but significant increase in prevalence over time (relative risk = 1.01; 95% credible interval, 1.00-1.02; p = 0.004). There was evidence of geographical heterogeneity in prevalence (p < 0.001). Excluding 146 (11.0%) cases with chromosomal anomalies or genetic syndromes, there were 1,176 cases (prevalence = 0.97; 95% confidence interval, 0.91-1.03 per 10,000 births), of which 137 (11.6%) had major structural anomalies. There was no evidence of a significant increased risk of Hirschsprung's disease in cases born to women aged ≥35 years compared with those aged 25 to 29 (relative risk = 1.09; 95% credible interval, 0.91-1.31; p = 0.355). CONCLUSION: This large population-based study found evidence of a small increasing trend in Hirschsprung's disease and differences in prevalence by geographic location. There was also no evidence of an association with maternal age. Birth Defects Research (Part A), 100:695-702, 2014. © 2014 Wiley Periodicals, Inc.

A new locus for congenital cataract, microcornea, microphthalmia, and atypical iris coloboma maps to chromosome 2.

OBJECTIVE: To report a novel phenotype of autosomal dominant atypical congenital cataract associated with variable expression of microcornea, microphthalmia, and iris coloboma linked to chromosome 2. Molecular analysis of this phenotype may improve our understanding of anterior segment development. DESIGN: Observational case study, genome linkage analysis, and gene mutation screening. PARTICIPANTS: Three families, 1 Egyptian and 2 Belgians, with a total of 31 affected were studied. METHODS: Twenty-one affected subjects and 9 first-degree relatives underwent complete ophthalmic examination. In the Egyptian family, exclusion of PAX6, CRYAA, and MAF genes was demonstrated by haplotype analysis using microsatellite markers on chromosomes 11, 16, and 21. Genome-wide linkage analysis was then performed using 385 microsatellite markers on this family. In the 2 Belgian families, the PAX6 gene was screened for mutations by direct sequencing of all exons. MAIN OUTCOME MEASURES: Phenotype description, genome-wide linkage of the phenotype, linkage to the PAX6, CRYAA, and MAF genes, and mutation detection in the PAX6 gene. RESULTS: Affected members of the 3 families had bilateral congenital cataracts inherited in an autosomal dominant pattern. A novel form of hexagonal nuclear cataract with cortical riders was expressed. Among affected subjects with available data, 95% had microcornea, 39% had microphthalmia, and 38% had iris coloboma. Seventy-five percent of the colobomata were atypical, showing a nasal superior location in 56%. A positive lod score of 4.86 was obtained at theta = 0 for D2S2309 on chromosome 2, a 4.9-Mb common haplotype flanked by D2S2309 and D2S2358 was obtained in the Egyptian family, and linkage to the PAX6, CRYAA, or MAF gene was excluded. In the 2 Belgian families, sequencing of the junctions and all coding exons of PAX6 did not reveal any molecular change. CONCLUSIONS: We describe a novel phenotype that includes the combination of a novel form of congenital hexagonal cataract, with variably expressed microcornea, microphthalmia, and atypical iris coloboma, not caused by PAX6 and mapping to chromosome 2. FINANCIAL DISCLOSURE(S): The authors have no proprietary or commercial interest in any materials discussed in this article.

Prevalence and time course of acute mountain sickness in older children and adolescents after rapid ascent to 3450 meters

OBJECTIVE: Acute mountain sickness is a frequent and debilitating complication of high-altitude exposure, but there is little information on the prevalence and time course of acute mountain sickness in children and adolescents after rapid ascent by mechanical transportation to 3500 m, an altitude at which major tourist destinations are located throughout the world. METHODS: We performed serial assessments of acute mountain sickness (Lake Louise scores) in 48 healthy nonacclimatized children and adolescents (mean +/- SD age: 13.7 +/- 0.3 years; 20 girls and 28 boys), with no previous high-altitude experience, 6, 18, and 42 hours after arrival at the Jungfraujoch high-altitude research station (3450 m), which was reached through a 2.5-hour train ascent. RESULTS: We found that the overall prevalence of acute mountain sickness during the first 3 days at high altitude was 37.5%. Rates were similar for the 2 genders and decreased progressively during the stay (25% at 6 hours, 21% at 18 hours, and 8% at 42 hours). None of the subjects needed to be evacuated to lower altitude. Five subjects needed symptomatic treatment and responded well. CONCLUSION: After rapid ascent to high altitude, the prevalence of acute mountain sickness in children and adolescents was relatively low; the clinical manifestations were benign and resolved rapidly. These findings suggest that, for the majority of healthy nonacclimatized children and adolescents, travel to 3500 m is safe and pharmacologic prophylaxis for acute mountain sickness is not needed.

Pseudomonas aeruginosa serotypes in nosocomial pneumonia: prevalence and clinical outcomes.

INTRODUCTION: Pseudomonas aeruginosa frequently causes nosocomial pneumonia and is associated with poor outcome. The purpose of this study was to assess the prevalence and clinical outcome of nosocomial pneumonia caused by serotype-specific P. aeruginosa in critically ill patients under appropriate antimicrobial therapy management. METHODS: A retrospective, non-interventional epidemiological multicenter cohort study involving 143 patients with confirmed nosocomial pneumonia caused by P. aeruginosa. Patients were analyzed for a period of 30 days from time of nosocomial pneumonia onset. Fourteen patients fulfilling the same criteria from a phase IIa studyconducted at the same time/centers were included in the prevalence calculations but not in the clinical outcome analysis. RESULTS: The prevalence of serotypes was: O6 (29%), O11 (23%), O10 (10%), O2 (9%), and O1 (8%). Serotypes with a prevalence of less than 5% were found in 13% of patients, 8% were classified as not typeable. Across all serotypes, 19% mortality, 70% clinical resolution, 11% clinical continuation, and 5% clinical recurrence were recorded. Age and higher APACHE II (Acute Physiology and Chronic Health Evaluation II) were predictive risk factors associated with probability of death and lower clinical resolution for P. aeruginosa nosocomial pneumonia. Mortality tends to be higher with O1 (40%) and lower with O2 (0%); clinical resolution tends to be better with O2 (82%) compared to other serotypes. Persisting pneumonia with O6 and O11 was, respectively, 8% and 21%; clinical resolution with O6 and O11 was, respectively, 75% and 57%. CONCLUSIONS: In P. aeruginosa nosocomial pneumonia, the most prevalent serotypes were O6 and O11. Further studies including larger group sizes are needed to correlate clinical outcome with virulence factors of P. aeruginosa in patients with nosocomial pneumonia caused by various serotypes; and to compare O6 and O11, the two serotypes most frequently encountered in critically ill patients.

Prevalence of complications after the oral rehabilitation with implant-supported hybrid prostheses

Objectives: Assess the main problems referred by the patients and observed by the professionals after the bucodental rehabilitation with an implant-supported hybrid prothesis. Patients and Methods: A retrospective study was carried out in which there were 43 patients included who were visited in the Department of Oral Surgery and Orofacial Implantology of University of Barcelona Dental School for one year. An oral rehabilitation with an implant-supported hybrid prosthesis was made to those patients. The following variables were registered: age, gender, number of inserted implants, type of implant and principal problems produced by the hybrid prosthesis. Results: The rehabilitation with an implant supported hybrid prosthesis was only performed in 43 of 116 cases treated in one year (January, 2006 to January, 2007). They were 26 men and 17 women of ages between 37 and 74 years, being the rate age of 56,5 years. The main complication recorded was the mucositis, associated frequently with a difficulty to carry a correct oral hygiene and to an overextention of the tail of resin of the prosthesis. Other observed problems were the peri-implantitis, the break of the acrylic teeth and the loss of some of the prosthetic screws. Conclusions: The most frequent complication after the laying of an implant supported hybrid prosthesis was the mucositis, associated mainly with a prosthetic tail too long and to the consequent difficulty of carrying a correct oral hygiene. In spite of the high prevalence of observed complications, most of them were mild and resolved on subsequent visits.

High prevalence of major cardiovascular risk factors in first-degree relatives of individuals with familial premature coronary artery disease : the GENECARD project

Rapport de synthèse La prévalence de l'hypertension artérielle, d'une dyslipidémie, d'une obésité et d'un tabagisme est élevée chez les patients qui souffrent d' une maladie coronarienne familiale précoce (MC-FP). L? e but de cette étude fut d'investiguer la prévalence de ces facteurs de risque cardiovasculaires au sein des membres d'une famille dont un patient est affecté d'une MC-FP. Nous avons étudié 108 familles différentes dont au minimum 2 frères/soeurs ont survécu à une maladie coronarienne précoce. Cette dernière fut définie par la survenue d'un événement coronarien avant l'âge de 51 ans pour les hommes et 56 ans pour les femmes. Au total, nous avons identifié 222 patients atteints de MC-FP chez qui 158 frères/soeurs, 197 enfants et 94 époux/épouses ne souffraient pas de maladie coronarienne. Ces parents proches furent comparés à un collectif d'individus "contrôles" issus de la population générale. Les frères/soeurs non affectés avaient une prévalence plus élevée d'hypertension artérielle (49% versus 24%, p<0.001), d'hypercholestérolémie (47% versus 34%, p=0.002), d'obésité abdominale (35% versus 24%, p=0.006) et de tabagisme (39% versus 24%, p=0.001) par rapport aux individus issus de la population générale. Parmi les enfants, une prévalence plus élevée d'hypertension artérielle fut identifiée chez les femmes, et une prévalence plus élevée d'hypercholestérolémie et d'obésité abdominale dans les deux sexes par rapport aux contrôles de la population générale. Aucune différence parmi les facteurs de risque cardiovasculaire n'a été observée entre les époux/ épouses et les contrôles. Les frères/soeurs affectés et non affectés par la MC-FP ont également été comparés entre eux. La prévalence des facteurs de risque était similaire dans les 2 groupes, sauf pour le tabagisme, qui avait une prévalence plus élevée chez les frères/sueurs affectés (76% versus 39%, p=0.008). La prévalence de l'hypertension artérielle, de l'obésité, et de la dyslipidémie est également élevée chez les parents de premier degré de patients atteints de MC-FP, mais pas chez leurs époux/épouses. Ces personnes-là requièrent donc une attention médicale particulière en raison d'une vulnérabilité familiale et/ou génétique augmentée aux anomalies métaboliques athérogènes. Dans ces familles, le tabagisme pourrait être le facteur déclenchant de la MC-FP.

Prevalence and determinants of obesity in children in public schools of Sintra, Portugal

OBJECTIVE: To assess the prevalence of and the factors related to overweight and obesity in a sample of children from the region of Sintra, Portugal. METHODS AND PROCEDURES: Cross-sectional study, stratified for freguesia with random selection of schools. Height, weight, triceps skinfold, upper arm and waist circumferences were measured, and overweight/obesity defined according to international criteria. Breast-feeding, number of daily meals and parents' height and weight data were also collected. RESULTS: One thousand two hundred and twenty-five children aged 6-10 years were assessed. Overall prevalence of overweight and obesity was 35.6% (23% overweight and 12.6% obesity). Overweight or obese children had higher triceps skinfold, upper arm circumference, arm muscle area, and waist circumference than their normal weight counterparts (P < 0.001). On multivariate analysis, relatively to a child without obese progenitors, a child with one obese progenitor had an obesity risk multiplied by 2.78 (95% confidence interval (CI): 1.76-4.38), while a child with two obese progenitors had a risk multiplied by 6.47 (95% CI: 5.59-16.19). Conversely, being picky was significantly related with a smaller risk of obesity: for boys, odds ratio (OR) = 0.15 (95% CI: 0.04-0.63); for girls, OR = 0.19 (95% CI: 0.06-0.64). Finally, no relationships were found between obesity, birth weight, birth height or breast-feeding. DISCUSSION: Prevalence of overweight and obesity are elevated among children of the Sintra region in Portugal compared to most other regions of Europe. The relationship with the parents' nutritional state stresses the need to target families for preventing obesity.

Prevalence and costs of multinutrution in hospitalized patients; the PREDyCES study

Justificación y objetivos: El estudio PREDyCES® tuvo dos objetivos principales. Primero, analizar la prevalencia de desnutrición hospitalaria (DH) en España tanto al ingreso como al alta, y segundo, estimar sus costes asociados. Métodos: Estudio nacional, transversal, observacional, multicéntrico, en condiciones de práctica clínica habitual que evaluó la presencia de desnutrición hospitalaria al ingreso y al alta mediante el NRS-2002®. Una extensión del estudio analizó la incidencia de complicaciones asociadas a la desnutrición, el exceso de estancia hospitalaria y los costes sanitarios asociados a la DH. Resultados: La prevalencia de desnutrición observada según el NRS-2002® fue del 23.7%. El análisis multivariante mostró que la edad, el género, la presencia de enfermedad oncológica, diabetes mellitus, disfagia y la polimedicación fueron los factores principales que se asociaron a la presencia de desnutrición. La DH se asoció a un incremento de la estancia hospitalaria, especialmente en aquellos pacientes que ingresaron sin desnutrición y que presentaron desnutrición al alta (15.2 vs 8.0 días; p < 0.001), con un coste adicional asociado de 5.829€ por paciente. Conclusiones: Uno de cada cuatro pacientes en los hospitales españoles se encuentra desnutrido. Esta condición se asocia a un exceso de estancia hospitalaria y costes asociados, especialmente en pacientes que se desnutren durante su hospitalización. Se debería generalizar el cribado nutricional sistemático con el objetivo de implementar intervenciones nutricionales de conocida eficacia.

Prevalence and significance of anti-HILA antibodies after liver transplantation : P236

Background: The pathogenic role of anti-HLA antibodies (AHA) after kidney transplantation is well established. However, its significance after liver transplantation remains unclear. The aim of our study was to determine the prevalence and significance of AHA after liver transplantation. Methods: Between January 2007 and November 2007, all liver transplant recipients who were greater than 6 months posttransplantation and followed regularly at our transplant outpatient clinic (n = 95) were screened for AHA. All clinical and electronic records were reviewed. Serum samples were tested using multiplex technology (Luminex). A liver biopsy had been performed in 55 out of the 95 patients based on clinical grounds but no routine protocol biopsies were performed. Immunosuppression was calcineurin inhibitor-based in 90 patients, sirolimus-based in 4 patients and one patient had no anti-rejection therapy (operationally tolerant recipient). Results: The mean time from transplantation to study was 85 months (range 6-248 months). Overall, AHA were found in 23/95 (24.2%) of patients (5 had anti-class I alone, 13 anti-class II alone, and 4 had both anti-class I and II). However, only 4/95 patients (4.2%) had donor-specific antibodies (DSA) (one anti-class I and 3 anti-class II). Twenty-one out of 95 patients (22.1%) had a history of past or current biopsy-proven or radiological biliary complications (chronic rejection, ischemic cholangitis, ischemic type biliary lesions or biliary anastomosis stricture). Among patients with AHA, 4/23 (17,4%) had biliary complications, while it was 17/72 (23.6%) in patients without AHA (NS). Among patients with DSA, 3/4 (75%) had biliary complications (two with biopsy-proven chronic rejection in association with biliary strictures and one with ischemic cholangitis following hepatic artery thrombosis), versus 1/19 (5.3%) patients with AHA but no DSA (p = 0.009), versus 16/72 (22.2%) patients without AHA (p = 0.046). In patients with DSA, immunosuppression was not different than in patients without DSA. Conclusions: We found a 24% AHA prevalence. The presence of DSA, but not of AHA, was significantly associated with an increased incidence of biliary complications including chronic liver allograft rejection. The exact mechanisms and possible causal relationship linking DSA to biliary complications remain to be studied. Larger prospective trials are thus needed to further define the role of AHA and in particular of DSA after liver transplantation.

Prevalence, awareness and treatment of type 2 diabetes mellitus in Switzerland: the CoLaus study.

ABSTRACT: Aims To assess the prevalence, awareness and treatment levels of Type 2 diabetes in a Swiss city. Methods Population-based cross-sectional study of 6181 subjects (3246 women) aged 35-75 years living in Lausanne, Switzerland. Type 2 diabetes was defined as fasting plasma glucose >/= 7 mmol/l and/or oral hypoglycaemic treatment and/or insulin. Results Total prevalence of Type 2 diabetes was 6.3% (95% confidence interval: 5.7-7.0%), higher in men (9.1%) than in women (3.8%, P < 0.001) and increased with age. Two-thirds (65.3%; 60.4-70.0%) of participants with Type 2 diabetes were aware of their status and among those aware 86.0% (81.5-90.3%) were treated. Treatment was more frequent in men (91.3%) than in women (75.9%, P < 0.001). Two-thirds of those treated for Type 2 diabetes were on monotherapy. Biguanides were prescribed in 65.0% of Type 2 diabetes patients and represented 48% of all antidiabetic drugs. Multivariable analysis showed male gender, increasing age, waist or BMI to be positively associated with prevalence of Type 2 diabetes, while leisure-time physical activity and alcohol consumption were negatively associated. Among participants presenting with Type 2 diabetes, increasing age was positively associated with awareness of Type 2 diabetes. Among subjects diagnosed with Type 2 diabetes, male gender and increasing age were positively associated with treatment. Conclusion Prevalence of Type 2 diabetes in Switzerland is estimated to be between 5.7% and 7.0%. Two-thirds of patients with Type 2 diabetes are aware of their status, and over three quarters of those aware are treated.

Body fat levels in children and adolescents: effects on the prevalence of obesity

BACKGROUND AND AIMS: There is little information regarding the effect of different definitions of obesity on nutritional epidemiology. The aim was thus to assess: (a) the values of percentage of body fat (%BF) by gender and age; (b) the prevalence of obesity according to different %BF cut-offs; and (c) the sensitivity and specificity of BMI according to different %BF cut-offs used to define obesity. METHODS: Cross-sectional study on 2494 boys and 2519 girls aged 10­18 years from the Lisbon area. %BF was measured using a hand-held device. In a sub sample of 211 boys and 724 girls %BF was assessed using skin folds. RESULTS: %BF levels were higher in girls and decreased with age in both genders. Prevalence of obesity varied considerably according to the %BF cut-off used: in boys, it ranged from 4.7% (age-specific 95th percentile) to 26.5% (fixed 25% cut-off), whereas by BMI it was 5.3%. In girls, prevalence of obesity ranged from 0.4% (age-specific BMI-derived %BF values) to 25.4% (fixed 30% cut-off), whereas by BMI it was 4.7%. The specificity of BMI criteria was over 95% irrespective of the %BF cut-off used; conversely, most sensitivities were below 40%. Sensitivities over 50% were obtained for the age-specific BMI-derived %BF values in boys and the age-specific 95th %BF percentile in both genders. Using %BF derived from the skin fold measurements leads to similar results. CONCLUSIONS: Prevalence of obesity varies considerably according to the %BF cut-off used. BMI cut-offs have a low sensitivity but a high specificity. Age- and gender-specific cut-offs for %BF should be used to define pediatric obesity.

An epidemiologic study to determine the prevalence of the HLA-B*5701 allele among HIV-positive patients in Europe.

OBJECTIVES: HLA-B*5701 is a major histocompatibility complex class I allele associated with an immunologically-mediated hypersensitivity reaction to abacavir. The objectives of this study were to evaluate HLA-B*5701 prevalence among European, HIV-1-infected patients and to compare the local and central laboratory screening results. METHODS: Data were combined from six multicentre, prospective studies involving 10 European countries in which HIV-1-infected patients (irrespective of treatment experience or previous HLA-B*5701 screening), >or=18 years of age, were evaluated for HLA-B*5701 carriage, determined by the central and local laboratory methods. RESULTS: A total of 9720 patients from 272 centres were included in the analysis. The overall estimate of HLA-B*5701 prevalence in Europe was 4.98%, with country-specific estimates ranging from 1.53 to 7.75%. HLA-B*5701 prevalence was highest in the self-reported white population (6.49%) and lowest in the black population (0.39%). Local laboratory results had a high specificity (99.9%) and sensitivity (99.2%) when compared with the central laboratory results. CONCLUSION: This study supports data from previous studies regarding the prevalence of HLA-B*5701 in the HIV population and the variation of HLA-B*5701 prevalence between different racial groups. The high specificity and sensitivity of local laboratory results, suggests that clinicians can be confident in using local laboratories for pretreatment HLA-B*5701 screening. However, it is essential that local laboratories participate in HLA-B*5701-specific quality assurance programs to maintain 100% sensitivity. In HIV-infected patients, pretreatment HLA-B*5701 screening may allow more informed decisions regarding abacavir use and has the potential to significantly reduce the frequency of abacavir-related hypersensitivity reactions and costs associated with managing these reactions.