Premature epiphyseal closure in an adolescent treated by retinoids for acne: an unusual cause of anterior knee pain.

Retinoids are effective and widely prescribed in the treatment of severe acne. However their use can be associated with numerous side effects. Some rare cases of premature epiphyseal closure were reported. We present the case of a sixteen-year-old soccer player referred for progressive anterior pain in both knees, evoking a patellar problem. Careful pharmacological questioning revealed use of isotretinoin for several months. MRI findings showed an irregularity of the growth plate and an important metaphyso-epiphyseal oedema, more noticeable in the left knee. Retinoid-induced premature epiphyseal closure was diagnosed. The treatment was stopped, with a resolution of pain within two months. After recovery a persisting small sequelar thumbprint-like growth plate lesion was observed on the control MRI. Retinoids induce an invasion of the growth plate by osteoclasts and a decrease in proteoglycans synthesis. It seems that the knee is the most affected joint. This complication being rare, a radiological follow-up of the young patients treated by retinoids is not proposed.

Reducing unintentional injuries in and around the home among children under 5 Years

Public Health England today launches 2 new resources for local authorities on preventing accidents to children and young people in the home and on the road. The reports show whilst the number of children and young people killed or seriously injured continues to fall in England there are still significant numbers of deaths and emergency admissions from preventable causes. On average each year between 2008 to 2012, 525 children and young people under 25 died and there were more than 53,700 admissions to hospital. The reports highlight actions local partners can take to reduce accidents including improving safety for children travelling to and from school and using existing services like health visitors and children’s centres. The Reducing unintentional injuries in and around the home among children under 5 Years and the Reducing unintentional injuries on the roads among children and young people under 25 reports include an analysis of data between 2008 to 2012. Key findings from the reports include: home injuries (under 5 years of age): an average of 62 children died each year between 2008 and 2012 these injuries result in an estimated 40,000 emergency hospital admissions among children of this age each year 5 injury types should be prioritised for the under-fives: choking; suffocation and strangulation; falls; poisoning; burns and scalds; and drowning hospital admission rate for unintentional injuries among the under-fives is 45% higher for children from the most deprived areas compared with children from the least deprived Road traffic injuries (under 25 years of age) there were 2,316 deaths recorded by the police among road users under the age of 25 years, an average of 463 under 25s each year there were 68,657 admissions to hospital as a result of road traffic injuries, an average of 13,731 each year in total there were 322,613 casualties of all severities recorded by the police, an average of 64,523 each year the rate of fatal and serious injuries for 10to 14 year olds was significantly greater for children from the 20% most deprived areas (37 per 100,000) compared with those from the most affluent areas (10 per 100,000)

Reducing unintentional injuries on the roads among children and young people under 25

Public Health England today launches 2 new resources for local authorities on preventing accidents to children and young people in the home and on the road. The reports show whilst the number of children and young people killed or seriously injured continues to fall in England there are still significant numbers of deaths and emergency admissions from preventable causes. On average each year between 2008 to 2012, 525 children and young people under 25 died and there were more than 53,700 admissions to hospital. The reports highlight actions local partners can take to reduce accidents including improving safety for children travelling to and from school and using existing services like health visitors and children’s centres. The Reducing unintentional injuries in and around the home among children under 5 Years and the Reducing unintentional injuries on the roads among children and young people under 25 reports include an analysis of data between 2008 to 2012. Key findings from the reports include: home injuries (under 5 years of age): an average of 62 children died each year between 2008 and 2012 these injuries result in an estimated 40,000 emergency hospital admissions among children of this age each year 5 injury types should be prioritised for the under-fives: choking; suffocation and strangulation; falls; poisoning; burns and scalds; and drowning hospital admission rate for unintentional injuries among the under-fives is 45% higher for children from the most deprived areas compared with children from the least deprived Road traffic injuries (under 25 years of age) there were 2,316 deaths recorded by the police among road users under the age of 25 years, an average of 463 under 25s each year there were 68,657 admissions to hospital as a result of road traffic injuries, an average of 13,731 each year in total there were 322,613 casualties of all severities recorded by the police, an average of 64,523 each year the rate of fatal and serious injuries for 10to 14 year olds was significantly greater for children from the 20% most deprived areas (37 per 100,000) compared with those from the most affluent areas (10 per 100,000)

Nosology and classification of genetic skeletal disorders: 2010 revision.

Genetic disorders involving the skeletal system arise through disturbances in the complex processes of skeletal development, growth and homeostasis and remain a diagnostic challenge because of their variety. The Nosology and Classification of Genetic Skeletal Disorders provides an overview of recognized diagnostic entities and groups them by clinical and radiographic features and molecular pathogenesis. The aim is to provide the Genetics, Pediatrics and Radiology community with a list of recognized genetic skeletal disorders that can be of help in the diagnosis of individual cases, in the delineation of novel disorders, and in building bridges between clinicians and scientists interested in skeletal biology. In the 2010 revision, 456 conditions were included and placed in 40 groups defined by molecular, biochemical, and/or radiographic criteria. Of these conditions, 316 were associated with mutations in one or more of 226 different genes, ranging from common, recurrent mutations to "private" found in single families or individuals. Thus, the Nosology is a hybrid between a list of clinically defined disorders, waiting for molecular clarification, and an annotated database documenting the phenotypic spectrum produced by mutations in a given gene. The Nosology should be useful for the diagnosis of patients with genetic skeletal diseases, particularly in view of the information flood expected with the novel sequencing technologies; in the delineation of clinical entities and novel disorders, by providing an overview of established nosologic entities; and for scientists looking for the clinical correlates of genes, proteins and pathways involved in skeletal biology. © 2011 Wiley-Liss, Inc.

Constitutively active G protein-coupled receptor mutants: implications on receptor function and drug action.

Mutations of GPCRs can increase their constitutive (agonist-independent) activity. Some of these mutations have been artificially introduced by site-directed mutagenesis; others occur spontaneously in human diseases. The analysis of constitutively active GPCR mutants has attracted a large interest in the past decade, providing an important contribution to our understanding of the molecular mechanisms underlying receptor function and drug action.

A preliminary evaluation of the validity of at-risk criteria for bipolar disorders in help-seeking adolescents and young adults.

INTRODUCTION: We have developed ultra-high risk criteria for bipolar affective disorder (bipolar at-risk - BAR) which include general criteria such as being in the peak age range of the onset of the disorder and a combination of specific criteria including sub-threshold mania, depressive symptoms, cyclothymic features and genetic risk. In the current study, the predictive validity of these criteria were tested in help-seeking adolescents and young adults. METHOD: This medical file-audit study was conducted at ORYGEN Youth Health (OYH), a public mental health program for young people aged between 15 and 24years and living in metropolitan Melbourne, Australia. BAR criteria were applied to the intake assessments of all non-psychotic patients who were being treated in OYH on 31 January, 2008. All entries were then checked for conversion criteria. Hypomania/mania related additions or alterations to existing treatments or initiation of new treatment by the treating psychiatrist served as conversion criteria to mania. RESULTS: The BAR criteria were applied to 173 intake assessments. Of these, 22 patients (12.7%) met BAR criteria. The follow-up period of the sample was 265.5days on average (SD 214.7). There were significantly more cases in the BAR group (22.7%, n=5) than in the non-BAR group (0.7%, n=1) who met conversion criteria (p<.001). CONCLUSIONS: These findings support the notion that people who develop a first episode of mania can be identified during the prodromal phase. The proposed criteria need further evaluation in prospective clinical trials.

COINE Project : Cultural Objects in Networked Environments

La idea subjacent al Projecte de Recerca i Desenvolupament COINE és permetre a la gent contar les seves pròpies històries. COINE pretén proporcionar les eines necessàries per crear estructuradament, un entorn basat en el World Wide Web, que permeti compartir continguts. Els resultats del Projecte ajudaran al desenvolupament d'estàndards per a la implantació i la recuperació estructurades de recursos digitals en entorns en xarxa distribuïda. El Projecte de COINE s'inicià el març de 2002 i finalitzà l'agost de 2004. Avui en dia estem al WorkPackage 5 on estem construint el Sistema, el programari i les interfícies. COINE pretén cobrir la gamma més àmplia possible d'usuaris potencials, des d'organitzacions de patrimoni cultural i institucions de qualsevol mida (principalment biblioteques, arxius i museus) fins a individus de qualsevol edat sense habilitats en l'ús de les TIC, o a grups petits de ciutadans. Els usuaris no utilitzaran només COINE com a eina de cerca, sinó que contribuiran amb el seu propi contingut.

Alcohol intake and the risk of coronary heart disease in the Spanish EPIC

Background: The association between alcohol consumption and coronary heart disease (CHD) has been widely studied. Most of these studies have concluded that moderate alcohol intake reduces the risk of CHD. There are numerous discussions regarding whether this association is causal or biased. The objective of this paper is to analyse the association between alcohol intake and CHD risk in the Spanish cohort of the European Prospective Investigation into Cancer (EPIC). Methods: Participants from the EPIC Spanish cohort were included (15 630 men and 25 808 women). The median follow-up period was 10 years. Ethanol intake was calculated using a validated dietary history questionnaire. Participants with a definite CHD event were considered cases. A Cox regression model adjusted for relevant co-variables and stratified by age was produced. Separate models were carried out for men and women. Results: The crude CHD incidence rate was 300.6/100 000 person-years for men and 47.9/100 000 person-years for women. Moderate, high and very high consumption was associated with a reduced risk of CHD in men: hazard ratio 0.90 (95% CI 0.56 to 1.44) for former drinkers, 0.65 (95% CI 0.41 to 1.04) for low, 0.49 (95% CI 0.32 to 0.76) for moderate, 0.46 (95% CI 0.30 to 0.71) for high and 0.50 (95% CI 0.29 to 0.85) for very high consumers. A negative association was found in women, with p values above 0.05 in all categories. Conclusions: Alcohol intake in men aged 29–69 years was associated with a more than 30% lower CHD incidence. This study is based on a large prospective cohort study and is free of the abstainer error.

Acquisition and cross-transmission of Staphylococcus aureus in European intensive care units

Objective. To study the acquisition and cross-transmission of Staphylococcus aureus in different intensive care units (ICUs). Methods. We performed a multicenter cohort study. Six ICUs in 6 countries participated. During a 3-month period at each ICU, all patients had nasal and perineal swab specimens obtained at ICU admission and during their stay. All S. aureus isolates that were collected were genotyped by spa typing and multilocus variable-number tandem-repeat analysis typing for cross-transmission analysis. A total of 629 patients were admitted to ICUs, and 224 of these patients were found to be colonized with S. aureus at least once during ICU stay (22% were found to be colonized with methicillin-resistant S. aureus [MRSA]). A total of 316 patients who had test results negative for S. aureus at ICU admission and had at least 1 follow-up swab sample obtained for culture were eligible for acquisition analysis. Results. A total of 45 patients acquired S. aureus during ICU stay (31 acquired methicillin-susceptible S. aureus [MSSA], and 14 acquired MRSA). Several factors that were believed to affect the rate of acquisition of S. aureus were analyzed in univariate and multivariate analyses, including the amount of hand disinfectant used, colonization pressure, number of beds per nurse, antibiotic use, length of stay, and ICU setting (private room versus open ICU treatment). Greater colonization pressure and a greater number of beds per nurse correlated with a higher rate of acquisition for both MSSA and MRSA. The type of ICU setting was related to MRSA acquisition only, and the amount of hand disinfectant used was related to MSSA acquisition only. In 18 (40%) of the cases of S. aureus acquisition, cross-transmission from another patient was possible. Conclusions. Colonization pressure, the number of beds per nurse, and the treatment of all patients in private rooms correlated with the number of S. aureus acquisitions on an ICU. The amount of hand disinfectant used was correlated with the number of cases of MSSA acquisition but not with the number of cases of MRSA acquisition. The number of cases of patient-to-patient cross-transmission was comparable for MSSA and MRSA.

Association of hepatitis C virus NS5B variants with resistance to new antiviral drugs among untreated patients

Mutations located in the 109-amino acid fragment of NS5B are typically associated with resistance to interferon (IFN) and ribavirin (RIB) and to new antiviral drugs. The prevalence of these mutations was examined in 69 drug-naïve individuals with hepatitis C virus (HCV) infections in Rio de Janeiro, Brazil. Mutations related to non-response to IFN/RIB were observed in all subtypes studied (1a, 1b, 2b, 3a and 4). The most common mutation was Q309R, present in all subtypes, except subtype 2b with frequency above 20%. D244N was detected only in subtype 3a and A333E was detected only in subtype 2b. We did not detect the S282T, S326G or T329I mutations in any of the samples analysed. Of note, the C316N mutation, previously related to a new non-nucleoside compound (HCV796 and AG-021541), was observed in only eight of 33 (24%) samples from subtype 1b. Site 316 was under positive selection in this HCV variant. Our data highlight the presence of previously described resistance mutations in HCV genotypes from drug-naïve patients.