Socio-demographic patterns of physical activity and sedentary behaviour in Chile: results from the National Health Survey 2009-2010.

BACKGROUND: Surveillance of physical activity (PA) is essential for the development of health promotion initiatives. The aim of the present study was to examine the prevalence of PA and sedentary behaviour with respect to socio-demographic factors in Chile. METHODS: A representative sample of 5434 adults aged ≥15 years (59% women) who participated in the Chilean National Health Survey (2009-2010) were included. Socio-demographic data (age, sex, environment, education level, income level and smoking status) were collected for all participants. PA levels were assessed using the Global Physical Activity Questionnaire. RESULTS: 19.8% [95% CI: 18.1-21.6] of the Chilean population did not meet PA recommendations (≥600 MET min week(-1)). The prevalence of physical inactivity was higher in participants aged ≥65 years, compared with the youngest age groups and was higher in women than in men. However, it was lower for participants with high, compared with low, education or income levels. The overall prevalence of sedentary risk behaviour (spending >4 h sitting per day) was 35.9% [95% CI: 33.7-38.2]. CONCLUSION: Physical inactivity correlates strongly with socio-demographic factors such as age, gender and educational level. Results identify social and economic groups to which future public health interventions should be aimed to increase PA in the Chilean population.

Group therapy for people with bulimia nervosa: systematic review and meta-analysis.

BACKGROUND: Approximately 25% of people with bulimia nervosa (BN) who undertake therapy are treated in groups. National guidelines do not discriminate between group and individual therapy, yet each has potential advantages and disadvantages and it is unclear how their effects compare. We therefore evaluated how group therapy for BN compares with individual therapy, no treatment, or other therapies, in terms of remission from binges and binge frequency. METHOD: We performed a systematic review and meta-analysis of randomized controlled trials of group therapies for BN, following standard guidelines. RESULTS: A total of 10 studies were included. Studies were generally small with unclear risk of bias. There was low-quality evidence of a clinically relevant advantage for group cognitive behavioural therapy (CBT) over no treatment at therapy end. Remission was more likely with group CBT versus no treatment [relative risk (RR) 0.77, 95% confidence interval (CI) 0.62-0.96]. Mean weekly binges were lower with group CBT versus no treatment (2.9 v. 6.9, standardized mean difference = -0.56, 95% CI -0.96 to -0.15). One study provided low-quality evidence that group CBT was inferior compared with individual CBT to a clinically relevant degree for remission at therapy end (RR 1.24, 95% CI 1.03-1.50); there was insufficient evidence regarding frequency of binges. CONCLUSIONS: Conclusions could only be reached for CBT. Low-quality evidence suggests that group CBT is effective compared with no treatment, but there was insufficient or very limited evidence about how group and individual CBT compared. The risk of bias and imprecise estimates of effect invite further research to refine and increase confidence in these findings.

A mutation in the mucosal keratin K4 is associated with oral white sponge nevus.

White sponge nevus (WSN) is a benign autosomal dominant disorder which affects non-cornifying stratified squamous epithelia (MIM 193900) (ref. 1). Phenotypically it presents as white 'spongy' plaques (oral leukokeratoses), most commonly in the mouth but also reported in the esophagus and anogenital mucosa. Histologically, the plaques show evidence of hyperproliferation, acanthosis and tonofilament aggregation. These types of pathogenic changes are characteristic of many of the epidermal keratin disorders. Keratins are expressed in pairs by epithelial cells in a tissue and cell specific manner. The major differentiation specific keratins of the buccal mucosa, nasal, esophageal and anogenital epithelia are K4 and K13 (ref. 7). The tissue distribution and nature of the lesions in patients affected by WSN suggested that mutations in K4 and/or K13 might be responsible for this disorder. We have now confirmed this hypothesis and report here a three base-pair (bp) deletion in the helix initiation peptide of K4 in affected members from two families with this condition.

Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease.

Darier disease (DD) is an autosomal-dominant skin disorder characterized by loss of adhesion between epidermal cells (acantholysis) and abnormal keratinization. Recently we constructed a 2.4-Mb, P1-derived artificial chromosome contig spanning the DD candidate region on chromosome 12q23-24.1. After screening several genes that mapped to this region, we identified mutations in the ATP2A2 gene, which encodes the sarco/endoplasmic reticulum Ca2(+)-ATPase type 2 isoform (SERCA2) and is highly expressed in keratinocytes. Thirteen mutations were identified, including frameshift deletions, in-frame deletions or insertions, splice-site mutations and non-conservative missense mutations in functional domains. Our results demonstrate that mutations in ATP2A2 cause DD and disclose a role for this pump in a Ca(2+)-signalling pathway regulating cell-to-cell adhesion and differentiation of the epidermis.

A randomized controlled trial of internet-based cognitive-behavioural therapy for bulimia nervosa or related disorders in a student population.

BACKGROUND: Bulimic eating disorders are common among female students, yet the majority do not access effective treatment. Internet-based cognitive-behavioural therapy (iCBT) may be able to bridge this gap. METHOD: Seventy-six students with bulimia nervosa (BN) or eating disorder not otherwise specified (EDNOS) were randomly assigned to immediate iCBT with e-mail support over 3 months or to a 3-month waiting list followed by iCBT [waiting list/delayed treatment control (WL/DTC)]. ED outcomes were assessed with the Eating Disorder Examination (EDE) at baseline, 3 months and 6 months. Other outcomes included depression, anxiety and quality of life. RESULTS: Students who had immediate iCBT showed significantly greater improvements at 3 and 6 months than those receiving WL/DTC in ED and other symptoms. CONCLUSIONS: iCBT with e-mail support is efficacious in students with bulimic disorders and has lasting effects.

"A computer isn't gonna judge you": a qualitative study of users' views of an internet-based cognitive behavioural guided self-care treatment package for bulimia nervosa and related disorders.

Little is known about what determines uptake and acceptability of internet-based treatments in eating disorders, and users' experience with such treatments. We investigated these factors in participants of a randomized controlled trial of an internet-based cognitive- behavioural treatment (iCBT) package (Overcoming bulimia online). Nine participants were interviewed using purposive sampling. The content of interviews were analyzed using thematic analysis. Additionally, participants received questionnaires about their impressions of iCBT. Participants talked about their experience of using iCBT, its impact and compared it to other treatments. Questionnaire responses echoed themes identified in the interviews. iCBT was received positively as a way of fitting treatment into busy lives. Comments on the layout of some of the package content and the practitioner support offered were identified as areas that could be modified or improved.

The neuropsychiatric phenotype in Darier disease.

BACKGROUND: Darier disease (DD) is a rare autosomal dominantly inherited skin disorder in which co-occurrence of neuropsychiatric abnormalities has been frequently reported by dermatologists. It is caused by mutations in a single gene, ATP2A2, which is expressed in the skin and brain. OBJECTIVES: To conduct the first systematic investigation of the neuropsychiatric phenotype in DD. METHODS: One hundred unrelated individuals with DD were assessed using a battery of standardized neuropsychiatric measures. Data were also obtained on a number of clinical features of DD. RESULTS: Individuals with DD were found to have high lifetime rates of mood disorders (50%), specifically major depression (30%) and bipolar disorder (4%), and suicide attempts (13%) and suicidal thoughts (31%). These were more common in DD when compared with general population data. The prevalence of epilepsy (3%) in the sample was also higher than the prevalence in the general population. There was no consistent association of specific dermatological features of DD and presence of psychiatric features. CONCLUSIONS: These findings highlight the need for clinicians to assess and recognize neuropsychiatric symptoms in DD. The results do not suggest that neuropsychiatric symptoms are simply a psychological reaction to having a skin disease, but are consistent with the pleiotropy hypothesis that mutations in the ATP2A2 gene, in addition to causing DD, confer susceptibility to neuropsychiatric features. Further research is needed to investigate genotype-phenotype correlations between the types and/or locations of pathogenic mutations within ATP2A2 and the expressed neuropsychiatric phenotypes.

Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34.

Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by the widespread development of distinctive tumors termed hamartomas. TSC-determining loci have been mapped to chromosomes 9q34 (TSC1) and 16p13 (TSC2). The TSC1 gene was identified from a 900-kilobase region containing at least 30 genes. The 8.6-kilobase TSC1 transcript is widely expressed and encodes a protein of 130 kilodaltons (hamartin) that has homology to a putative yeast protein of unknown function. Thirty-two distinct mutations were identified in TSC1, 30 of which were truncating, and a single mutation (2105delAAAG) was seen in six apparently unrelated patients. In one of these six, a somatic mutation in the wild-type allele was found in a TSC-associated renal carcinoma, which suggests that hamartin acts as a tumor suppressor.

Findings from aetiological investigation of Auditory Neuropathy Spectrum Disorder in children referred to cochlear implant programs.

OBJECTIVES: Auditory neuropathy spectrum disorder (ANSD) is an audiological diagnosis characterised by hearing dysfunction in the presence of intact outer hair cell function in the cochlea. ANSD is thought to account for 7-10% of all childhood permanent hearing impairment, and can result from a range of pathological processes. This paper describes the rationale, methods and findings from the aetiological investigation of ANSD. METHODS: Retrospective audit of four cochlear implant programmes. RESULTS: 97 patients were identified. 79% of patients were identified before the age of one. Prematurity and jaundice were the most frequently identified aetiological factors. 33 patients had cochlear nerve deficiency on imaging. Genetic diagnoses identified included otoferlin, SX010 gene, connexin 26 and A1FM1 gene mutations. ANSD was seen in conjunction with syndromes including Kallman syndrome, CHARGE syndrome, X-linked deafness, SOTOS syndrome, Brown Vieletto Van Laere syndrome, and CAPOS syndrome. DISCUSSION: We present a two-level system of aetiological investigation that is clinically practical. Patients with ANSD sufficiently severe to consider cochlear implantation are generally identified at an early age. Aetiological investigation is important to guide prognosis and identify comorbidity. CONCLUSION: Prematurity and jaundice are the most commonly identified aetiological factors in ANSD. Imaging findings identify crucial factors in a significant minority. An important minority may have genetic and syndromic diagnoses that require further management.

First Report of Raceme Blight Caused by Cladosporium cladosporioides on Macadamia Nuts in South Africa.

In September of 2005 and 2006, macadamia (Macadamia integrifolia Maiden & Betche) orchards in Tzaneen, Modjadji, Politsi, and Levubu in the Northern Province and Kiepersol in Mpumalanga, South Africa were surveyed and sampled to determine the causal agent of raceme blight. Symptoms appeared during early bloom and were present on racemes of all developmental stages. Early signs were necrotic tips of the peduncle that often curved to one side with necrosis spreading upward, resulting in the so-called "rat tail". Unopened flowers were also affected. In severe cases, the entire inflorescence (flowers and peduncle) was necrotic and eventually flowers abscised. Occasionally, infection began with single flowers as small water-soaked specks on the flower, with no symptoms on the green peduncle. Diseased racemes were covered with olive gray patches of mycelia and abundant conidia. Flowers with blight symptoms were collected, surface disinfested with 70% ethanol for 2 min, and left to dry. Thirty isolations were made from the interface of the lesion and healthy tissue, plated onto 50% potato dextrose agar (PDA) (Biolab, Merck Laboratories, Wadeville, South Africa) with 19 g of agar per liter, and incubated at 25°C for 5 days. Direct isolations from diseased material were done by picking up conidia and placing them on PDA. A fungus was isolated consistently and identified morphologically as Cladosporium cladosporioides (Fresen.) de Vries based on the velvety olive-brown with almost black reverse colony color and dimensions and color of conidia and conidiophores. Conidia formed in long branched chains that readily disarticulate, mostly aseptate, elliptical to limoniform, 3 to 10.5 (3 to 7) × 2 to 5 (3 to 4) µm. Conidia were pale to olive brown and smooth to verruculose. Ramoconidia were 0-1 septate, 2.5 to 5 µm wide, up to 28 µm long, smooth or sometimes minutely verruculose. Conidiophores were pale to olive brown, macro- and micronemateus, smooth or sometimes verruculose, and of various lengths up to 320 µm long and 2 to 6 µm wide. To confirm pathogen identity, the ITS 1 and ITS 4 regions were sequenced, which had 100% homology to the 18S rRNA of C. cladosporioides (GenBank Accession No. DQ 124142.1). Pathogenicity trials were conducted in the field. Fungal isolates were grown on PDA for 6 days, spores were harvested, and a suspension was made (106 spores ml-1). Twenty macadamia inflorescences (cv. Beaumont) were dipped in the suspension for 1 s, covered with plastic bags containing wet cotton wool, and covered with paper bags. Inflorescences in different stages (petal fall, knee stage, and closed) were inoculated. Control treatments were dipped in sterile water. After 2 to 3 days, the bags were removed. Symptoms developed on all 20 inflorescences and in all cases, the bottom of the inflorescence blighted, resulting in the typical rat tail symptom. C. cladosporioides was reisolated from all surface-disinfested infected material plated on PDA. Control inflorescences developed no symptoms. Isolate PPRI 8376 was deposited with the National Collection of Fungi, Plant Protection Research Institute, Pretoria, South Africa. The disease is prevalent during wet periods and 5 to 10% of flowers were infected. The disease has increasingly been seen in orchards over the last two seasons and under favorable wet, humid conditions, severe infections have resulted in 100% flower loss. To our knowledge, this is the first report of C. cladosporioides causing raceme blight on macadamia in South Africa.

A tale of three stents: aortic stenting prior to oesophagectomy after oesophageal stents.

The use of endoluminal stents to treat anastomotic leaks post oesophagogastric resection remains controversial. While some advocate stents to expedite recovery, others advise caution due to the risk of major morbidity and mortality. We describe a case of anastomotic leak following total gastrectomy for adenocarcinoma treated with a self-expanding metallic stent. Complications with the initial stent were treated with a further stent, which compromised the function of the oesophagus and eroded into the aorta, necessitating a colonic reconstruction and endovascular aortic stenting.

Inoculation of female American black bears (Ursus americanus) with partially purified porcine zona pellucidae limits cub production.

The present 2-year study investigated the feasibility of using porcine zona pellucidae (pZP) as antigen for immunocontraception in American black bears. Sows, 3-6 years of age, were administered either two doses of 250 microg pZP with Freund's adjuvant (n = 10) or adjuvant alone (n = 5), one in April and one in May, and were kept away from the boars until June. Serum samples were collected before injections and before denning (November). The presence of sows with cubs at side was observed during premature emergence from denning. First-year results indicated that anti-pZP antibody titres in vaccinated sows were 2.5-9.0-fold (range) higher compared with non-vaccinated sows and that the vaccinated sows were threefold less likely to become pregnant (P = 0.167). Control and vaccinated bears produced 1.6 and 0.2 cubs per sow, respectively (P = 0.06). The second-year study investigated the feasibility of using pZP sequestered in a controlled-release pellet and a water-soluble adjuvant (QS-21) to avoid regulatory problems associated with Freund's adjuvant. Sows in the treatment group (n = 22) were administered a single dose of an emulsion of 250 microg pZP and 150 microg QS-21 plus a pellet containing 70-90 microg pZP for delayed release as booster dose. Control sows (n = 5) received the QS-21 adjuvant in pellet alone. Serum samples were collected before inoculations (April) and before denning (November). Seven cubs were born to the five control sows, but none was born to the 22 vaccinated sows (P < 0.001). Anti-pZP antibody mean absorbance ratios in control sows remained at background levels, whereas vaccinated sows had ratios fourfold higher than controls. Two-dimensional polyacrylamide gel electrophoresis and immunohistochemical localisation confirmed immunoreactivity of sera from inoculated bears. We conclude that cub production in the American black bear can be effectively limited with either two injections of 250 microg pZP or a single inoculation of partially purified pZP sequestered in controlled-release pellets.

Reduced global brain metabolism but maintained vascular function in amnestic mild cognitive impairment.

Amnestic mild cognitive impairment represents an early stage of Alzheimer's disease, and characterization of physiological alterations in mild cognitive impairment is an important step toward accurate diagnosis and intervention of this condition. To investigate the extent of neurodegeneration in patients with mild cognitive impairment, whole-brain cerebral metabolic rate of oxygen in absolute units of µmol O2/min/100 g was quantified in 44 amnestic mild cognitive impairment and 28 elderly controls using a novel, non-invasive magnetic resonance imaging method. We found a 12.9% reduction ( p = 0.004) in cerebral metabolic rate of oxygen in mild cognitive impairment, which was primarily attributed to a reduction in the oxygen extraction fraction, by 10% ( p = 0.016). Global cerebral blood flow was not found to be different between groups. Another aspect of vascular function, cerebrovascular reactivity, was measured by CO2-inhalation magnetic resonance imaging and was found to be equivalent between groups. Therefore, there seems to be a global, diffuse diminishment in neural function in mild cognitive impairment, while their vascular function did not show a significant reduction.

Peptide Binding for Bio-Based Nanomaterials.

Peptide-based strategies represent transformative approaches to fabricate functional inorganic materials under sustainable conditions by modeling the methods exploited in biology. In general, peptides with inorganic affinity and specificity have been isolated from organisms and through biocombinatorial selection techniques (ie, phage and cell surface display). These peptides recognize and bind the inorganic surface through a series of noncovalent interactions, driven by both enthalpic and entropic contributions, wherein the biomolecules wrap the metallic nanoparticle structure. Through these interactions, modification of the inorganic surface can be accessed to drive the incorporation of significantly disordered surface metal atoms, which have been found to be highly catalytically active for a variety of chemical transformations. We have employed synthetic, site-directed mutagenesis studies to reveal localized binding effects of the peptide at the metallic nanoparticle structure to begin to identify the biological basis of control over biomimetic nanoparticle catalytic activity. The protocols described herein were used to fabricate and characterize peptide-capped nanoparticles in atomic resolution to identify peptide sequence effects on the surface structure of the materials, which can then be directly correlated to the catalytic activity to identify structure/function relationships.

Biofilm formation is a risk factor for mortality in patients with Candida albicans bloodstream infection-Scotland, 2012-2013.

Bloodstream infections caused by Candida species remain a significant cause of morbidity and mortality in hospitalized patients. Biofilm formation by Candida species is an important virulence factor for disease pathogenesis. A prospective analysis of patients with Candida bloodstream infection (n = 217) in Scotland (2012-2013) was performed to assess the risk factors associated with patient mortality, in particular the impact of biofilm formation. Candida bloodstream isolates (n = 280) and clinical records for 157 patients were collected through 11 different health boards across Scotland. Biofilm formation by clinical isolates was assessed in vitro with standard biomass assays. The role of biofilm phenotype on treatment efficacy was also evaluated in vitro by treating preformed biofilms with fixed concentrations of different classes of antifungal. Available mortality data for 134 patients showed that the 30-day candidaemia case mortality rate was 41%, with predisposing factors including patient age and catheter removal. Multivariate Cox regression survival analysis for 42 patients showed a significantly higher mortality rate for Candida albicans infection than for Candida glabrata infection. Biofilm-forming ability was significantly associated with C. albicans mortality (34 patients). Finally, in vitro antifungal sensitivity testing showed that low biofilm formers and high biofilm formers were differentially affected by azoles and echinocandins, but not by polyenes. This study provides further evidence that the biofilm phenotype represents a significant clinical entity, and that isolates with this phenotype differentially respond to antifungal therapy in vitro. Collectively, these findings show that greater clinical understanding is required with respect to Candida biofilm infections, and the implications of isolate heterogeneity.

Prognostic stratification in critically ill patients with acute renal failure requiring dialysis.

BACKGROUND: Despite the widespread availability of dialytic and intensive care unit technology, the probability of early mortality in critically ill persons with acute renal failure is distressingly high. Previous efforts to predict outcome in this population have been limited by small sample size and the absence of uniform exclusion criteria. Additionally, data obtained decades ago may not apply today owing to changes in case mix. METHODS: The medical records of 132 consecutive patients in the intensive care unit with acute renal failure who required dialysis from 1991 through 1993 were evaluated by a blinded reviewer. RESULTS: The overall in-hospital mortality rate was 70%. Twelve readily available historical, clinical, and laboratory variables were significantly associated with in-hospital mortality. Multivariate logistic regression analysis showed that mechanical ventilation, malignancy, and nonrespiratory organ system failure were independently associated with in-hospital mortality. Using a 95% positivity criterion, this model identified 24% of high-risk patients who died, without misclassification of any survivors. Of those who survived to hospital discharge, 33% were dialysis dependent and 28% were institutionalized long-term. CONCLUSIONS: Among critically ill patients, acute renal failure requiring dialysis is an ominous condition with a high risk of in-hospital mortality. This risk appears to depend largely on comorbid conditions, such as the need for mechanical ventilation and underlying malignancy. While this prognostic model requires prospective validation, it appears to identify a substantial fraction of patients for whom dialysis may be of limited or no benefit.