A novel COMP mutation in a pseudoachondroplasia family of Chinese origin

<p>Abstract</p> <p>Background</p> <p>Pseudoachondroplasia (PSACH) is caused exclusively by mutations in the gene for cartilage oligomeric matrix protein (<it>COMP</it>). Only a small number of studies have documented the clinical phenotype and genetic basis in Chinese PSACH patients.</p> <p>Case presentation</p> <p>We investigated a four-generation PSACH pedigree of Chinese Han origin. Two patients and two unaffected individuals were recruited for clinical evaluation and molecular genetic analysis. The genomic DNA was extracted from peripheral blood leukocytes. Polymerase chain reaction (PCR) was adopted to amplify the 8-19 exons of <it>COMP </it>gene. Then the products were sequenced bi-directionally for screening mutation. Clinical evaluation revealed that PSACH patients in this pedigree had a severe disproportionate short stature (-10SD). A heterozygous TGTCCCTGG insertion in exon 13, between nucleotide 1352T and 1353G, were identified in the patients except the unaffected individuals, which resulted in a three-amino-acid insertion (451V_452P ins VPG) in the sixth calmodulin-like repeat of the <it>COMP </it>protein.</p> <p>Conclusion</p> <p>This c. 1352_1353ins TGTCCCTGG is a novel mutation responsible for severe familial PSACH.</p

Do residents’ perceptions of being well-placed and objective presence of local amenities match? A case study in West Central Scotland, UK

Background:&lt;p&gt;&lt;/p&gt; Recently there has been growing interest in how neighbourhood features, such as the provision of local facilities and amenities, influence residents’ health and well-being. Prior research has measured amenity provision through subjective measures (surveying residents’ perceptions) or objective (GIS mapping of distance) methods. The latter may provide a more accurate measure of physical access, but residents may not use local amenities if they do not perceive them as ‘local’. We believe both subjective and objective measures should be explored, and use West Central Scotland data to investigate correspondence between residents’ subjective assessments of how well-placed they are for everyday amenities (food stores, primary and secondary schools, libraries, pharmacies, public recreation), and objective GIS-modelled measures, and examine correspondence by various sub-groups.&lt;p&gt;&lt;/p&gt; Methods:&lt;p&gt;&lt;/p&gt; ArcMap was used to map the postal locations of ‘Transport, Health and Well-being 2010 Study’ respondents (n = 1760), and the six amenities, and the presence/absence of each of them within various straight-line and network buffers around respondents’ homes was recorded. SPSS was used to investigate whether objective presence of an amenity within a specified buffer was perceived by a respondent as being well-placed for that amenity. Kappa statistics were used to test agreement between measures for all respondents, and by sex, age, social class, area deprivation, car ownership, dog ownership, walking in the local area, and years lived in current home.&lt;p&gt;&lt;/p&gt; Results:&lt;p&gt;&lt;/p&gt; In general, there was poor agreement (Kappa &lt;0.20) between perceptions of being well-placed for each facility and objective presence, within 800 m and 1000 m straight-line and network buffers, with the exception of pharmacies (at 1000 m straight-line) (Kappa: 0.21). Results varied between respondent sub-groups, with some showing better agreement than others. Amongst sub-groups, at 800 m straight-line buffers, the highest correspondence between subjective and objective measures was for pharmacies and primary schools, and at 1000 m, for pharmacies, primary schools and libraries. For road network buffers under 1000 m, agreement was generally poor.&lt;p&gt;&lt;/p&gt; Conclusion:&lt;p&gt;&lt;/p&gt; Respondents did not necessarily regard themselves as well-placed for specific amenities when these amenities were present within specified boundaries around their homes, with some exceptions; the picture is not clear-cut with varying findings between different amenities, buffers, and sub-groups

Cost-effectiveness of an integrated 'fast track' rehabilitation service for multi-trauma patients involving dedicated early rehabilitation intervention programs: design of a prospective, multi-centre, non-randomised clinical trial

Contains fulltext : 79649.pdf (publisher's version ) (Open Access)ABSTRACT: BACKGROUND: In conventional multi-trauma care service (CTCS), patients are admitted to hospital via the accident & emergency room. After surgery they are transferred to the IC-unit followed by the general surgery ward. Ensuing treatment takes place in a hospital's outpatient clinic, a rehabilitation centre, a nursing home or the community. Typically, each of the CTCS partners may have its own more or less autonomous treatment perspective. Clinical evidence, however, suggests that an integrated multi-trauma rehabilitation approach ('Supported Fast-track multi-Trauma Rehabilitation Service': SFTRS), featuring: 1) earlier transfer to a specialised trauma rehabilitation unit; 2) earlier start of 'non-weight-bearing' training and multidisciplinary treatment; 3) well-documented treatment protocols; 4) early individual goal-setting; 5) co-ordination of treatment between trauma surgeon and physiatrist, and 6) shorter lengths-of-stay, may be more (cost-)effective.This paper describes the design of a prospective cohort study evaluating the (cost-) effectiveness of SFTRS relative to CTCS. METHODS/DESIGN: The study population includes multi-trauma patients, admitted to one of the participating hospitals, with an Injury Severity Scale score > = 16, complex multiple injuries in several extremities or complex pelvic and/or acetabulum fractures. In a prospective cohort study CTCS and SFTRS will be contrasted. The inclusion period is 19 months. The duration of follow-up is 12 months, with measurements taken at baseline, and at 3,6,9 and 12 months post-injury.Primary outcome measures are 'quality of life' (SF-36) and 'functional health status' (Functional Independence Measure). Secondary outcome measures are the Hospital Anxiety & Depression Scale, the Mini-Mental State Examination as an indicator of cognitive functioning, and the Canadian Occupational Performance Measure measuring the extent to which individual ADL treatment goals are met. Costs will be assessed using the PROductivity and DISease Questionnaire and a cost questionnaire. DISCUSSION: The study will yield results on the efficiency of an adapted care service for multi-trauma patients (SFTRS) featuring earlier (and condensed) involvement of specialised rehabilitation treatment. Results will show whether improved SFTRS logistics, combined with shorter stays in hospital and rehabilitation clinic and specialised early rehabilitation training modules are more (cost-) effective, relative to CTCS. TRIAL REGISTRATION: Current Controlled Trials register (ISRCTN68246661) and Netherlands Trial Register (NTR139)

Cost-effectiveness of initiating extrafine- or standard size-particle inhaled corticosteroid for asthma in two health-care systems: a retrospective matched cohort study

Data acquisition and analyses were funded by Teva Pharmaceuticals

Anticipatory changes in British household purchases of soft drinks associated with the announcement of the Soft Drinks Industry Levy: A controlled interrupted time series analysis

This is the final version. Available on open access from the Public Library of Science via the DOI in this recordData Availability: The statistical code for the analyses are available from https://github.com/MRC-Epid/SDILEvaluation. Kantar Worldpanel data are not publicly available but can be purchased from Kantar Worldpanel (http://www.kantarworldpanel.com). The authors are not legally permitted to share the data used for this study, but interested parties may contact Kantar WorldPanel representative Sean Cannon to inquire about accessing this proprietary data ([email protected]).Background Sugar-sweetened beverage (SSB) consumption is positively associated with obesity, type 2 diabetes, and cardiovascular disease. The World Health Organization recommends that member states implement effective taxes on SSBs to reduce consumption. The United Kingdom Soft Drinks Industry Levy (SDIL) is a two-tiered tax, announced in March 2016 and implemented in April 2018. Drinks with >8 g of sugar per 100 ml (higher levy tier) are taxed at £0.24 per litre, drinks with >5 to 1.2% alcohol by volume are exempt. We aimed to determine if the announcement of the SDIL was associated with anticipatory changes in purchases of soft drinks prior to implementation of the SDIL in April 2018. We explored differences in the volume of and amount of sugar in household purchases of drinks in each levy tier at 2 years post announcement. Methods and findings We used controlled interrupted time series to compare observed changes associated with the announcement of the SDIL to the counterfactual scenario of no announcement. We used data from Kantar Worldpanel, a commercial household purchasing panel with approximately 30,000 British members that includes linked nutritional data on purchases. We conducted separate analyses for drinks liable for the SDIL in the higher, lower, and no-levy tiers controlling with household purchase volumes of toiletries. At 2 years post announcement, there was no difference in volume of or sugar from purchases of higher-levy-tier drinks compared to the counterfactual of no announcement. In contrast, a reversal of the existing upward trend in volume (ml) of and amount of sugar (g) in purchases of lower-levy-tier drinks was seen. These changes led to a −96.1 ml (95% confidence interval [CI] −144.2 to −48.0) reduction in volume and −6.4 g (95% CI −9.8 to −3.1) reduction in sugar purchased in these drinks per household per week. There was a reversal of the existing downward trend in the amount of sugar in household purchases of the no-levy drinks but no change in volume purchased. At 2 years post announcement, these changes led to a 6.1 g (95% CI 3.9–8.2) increase in sugar purchased in these drinks per household per week. There was no evidence that volume of or amount of sugar in purchases of all drinks combined was different from the counterfactual. This is an observational study, and changes other than the SDIL may have been responsible for the results reported. Purchases consumed outside of the home were not accounted for. Conclusions The announcement of the UK SDIL was associated with reductions in volume and sugar purchased in lower-levy-tier drinks before implementation. These were offset by increases in sugar purchased from no-levy drinks. These findings may reflect reformulation of drinks from the lower levy to no-levy tier with removal of some but not all sugar, alongside changes in consumer attitudes and beliefs.Centre for Diet and Activity Research (CEDAR)Medical Research Council (MRC)National Institute for Health Research (NIHR

Low back pain beliefs are associated to age, location of work, education and pain-related disability in Chinese healthcare, professionals working in China: a cross sectinal survey

Background: Low back pain (LBP) is the leading cause of disability worldwide. Evidence pointing towards a more efficacious model of care using a biopsychosocial approach for LBP management highlights the need to understand the pain-related beliefs of patients and those who treat them. The beliefs held by healthcare professionals (HCPs) are known to influence the treatment advice given to patients and consequently management outcomes. Back pain beliefs are known to be influenced by factors such as culture, education, health literacy, place of work, personal experience of LBP and the sequelae of LBP such as disability. There is currently a knowledge gap among these relationships in non-western countries. The aim of this study was to examine the associations between LBP-related beliefs among Chinese HCPs and characteristics of these HCPs. Methods: A convenience sample of 432 HCPs working in various health settings in Shanghai, China, completed a series of questionnaires assessing their demographic characteristics, LBP status, pain-related disability and their beliefs about their own LBP experience, using the Back beliefs Questionnaire (BBQ) and the Fear Avoidance Beliefs Questionnaire (FABQ).Results: Younger Chinese HCPs (20–29 years) held more negative beliefs and attitudes related to LBP compared to older HCPs (>40years; BBQ mean difference [95% CI]: 2.4 [0.9 - 3.9], p = 0.001). HCPs working outside tertiary hospitals had poorer beliefs concerning the inevitable consequences of LBP (BBQ mean difference [95% CI]: -2.4 [-3.8 - -1.0], p = 0.001). HCPs who experienced LBP had higher level of fear avoidance beliefs when experiencing high LBP-related disability (FABQ-physical mean difference [95% CI]: 2.8 [1.5 - 4.1], p < 0.001; FABQ-work mean difference [95% CI]: 6.2 [4.0 - 8.4], p < 0.001)) and had lower level of fear avoidance beliefs if they had completed postgraduate study(FABQ-physical mean difference [95% CI]: 2.9 [-5.8 - 0.0], p = 0.049).Conclusion: This study suggests that LBP-related beliefs and attitudes among Chinese HCPs are influenced by age, location of work, level of LBP-related disability and education level. Understanding back pain beliefs of Chinese HCPs forms an important foundation for future studies into the condition and its management in China

An examination of knowledge, attitudes and practices related to lead exposure in South Western Nigeria

BACKGROUND: Lead is a highly toxic and pervasive metal. Chronic exposure to low levels is responsible for significant health effects, particularly in children. Prevention remains the best option for reducing childhood lead exposure, however the knowledge, attitudes and practices to lead exposure in many developing countries is not known. Methods: We conducted four focus group discussions (FGD) to evaluate knowledge attitudes and practices to lead exposure in Nigeria. An FGD guide was developed from the literature and preliminary discussion with members of the public. Participants in the FGD were randomly selected from adults living in Ibadan, South Western Nigeria in 2004. RESULTS: We found that there was limited awareness of the sources of lead exposure in the domestic environment and participants had little knowledge of the health effects of chronic low-dose lead exposure. CONCLUSION: We conclude that the findings of this study should be used, in conjunction with others, to develop appropriate health education intervention for lead exposure in the domestic environment

Examining the Evidence for Chytridiomycosis in Threatened Amphibian Species

Extinction risks are increasing for amphibians due to rising threats and minimal conservation efforts. Nearly one quarter of all threatened/extinct amphibians in the IUCN Red List is purportedly at risk from the disease chytridiomycosis. However, a closer look at the data reveals that Batrachochytrium dendrobatidis (the causal agent) has been identified and confirmed to cause clinical disease in only 14% of these species. Primary literature surveys confirm these findings; ruling out major discrepancies between Red List assessments and real-time science. Despite widespread interest in chytridiomycosis, little progress has been made between assessment years to acquire evidence for the role of chytridiomycosis in species-specific amphibian declines. Instead, assessment teams invoke the precautionary principle when listing chytridiomycosis as a threat. Precaution is valuable when dealing with the world's most threatened taxa, however scientific research is needed to distinguish between real and predicted threats in order to better prioritize conservation efforts. Fast paced, cost effective, in situ research to confirm or rule out chytridiomycosis in species currently hypothesized to be threatened by the disease would be a step in the right direction. Ultimately, determining the manner in which amphibian conservation resources are utilized is a conversation for the greater conservation community that we hope to stimulate here

Batrachochytrium dendrobatidis Shows High Genetic Diversity and Ecological Niche Specificity among Haplotypes in the Maya Mountains of Belize

The amphibian pathogen Batrachochytrium dendrobatidis (Bd) has been implicated in amphibian declines around the globe. Although it has been found in most countries in Central America, its presence has never been assessed in Belize. We set out to determine the range, prevalence, and diversity of Bd using quantitative PCR (qPCR) and sequencing of a portion of the 5.8 s and ITS1-2 regions. Swabs were collected from 524 amphibians of at least 26 species in the protected areas of the Maya Mountains of Belize. We sequenced a subset of 72 samples that had tested positive for Bd by qPCR at least once; 30 samples were verified as Bd. Eight unique Bd haplotypes were identified in the Maya Mountains, five of which were previously undescribed. We identified unique ecological niches for the two most broadly distributed haplotypes. Combined with data showing differing virulence shown in different strains in other studies, the 5.8 s - ITS1-2 region diversity found in this study suggests that there may be substantial differences among populations or haplotypes. Future work should focus on whether specific haplotypes for other genomic regions and possibly pathogenicity can be associated with haplotypes at this locus, as well as the integration of molecular tools with other ecological tools to elucidate the ecology and pathogenicity of Bd

Changes in catastrophizing and kinesiophobia are predictive of changes in disability and pain after treatment in patients with anterior knee pain

Purpose. The purpose of the study was to investigate if changes in psychological variables are related to the outcome in pain and disability in patients with chronic anterior knee pain. Methods. A longitudinal observational study on 47 patients with chronic anterior knee pain was performed in a secondary healthcare setting. Pain was measured with the visual analogue scale and disability with the Lysholm scale. The psychological variables, such as anxiety, depression, pain coping strategies, catastrophizing and fear to movement beliefs, were studied by using self-administered questionnaires. Results. Among the pain coping strategies, only the catastrophizing subscale showed a significant reduction. Similarly, anxiety, depression and kinesiophobia were significantly reduced after treatment. Those patients who decreased the catastrophizing, kinesiophobia, anxiety and depression showed a greater improvement in pain and disability after a purely biomedical treatment. A multiple regression analysis revealed that changes in catastrophizing predicted the amount of improvement in pain severity and that changes in both catastrophizing and anxiety predicted changes in disability after treatment. Conclusion. What has been found suggests that clinical improvement in pain and disability is associated with a reduction in catastrophizing and kinesiophobia. Therefore, co-interventions to reduce catastrophizing thinking and kinesiophobia may enhance the results. Level of evidence. Prospective Cohort Study, Level I for prognosis