Clinicoradiological manifestations of paraganglioma syndromes associated with succinyl dehydrogenase enzyme mutation

BACKGROUND: Paragangliomas are rare tumours derived from the autonomic nervous system that have increasingly been recognised to have a genetic predisposition. Mutations of the enzyme succinyl dehydrogenase (SDH) have proven to result in paraganglioma formation. There are four subunits (A through D) that form the enzyme complex and are associated with different genophenotypic expressions of disease. SDHB and SDHD mutations are more common, whereas SDHA and SDHC mutations are rare. Patients with SDHB mutations are prone to extra-adrenal pheochromocytomas, malignant disease and extra-paraganglial neoplasia, whereas SDHD mutations have a greater propensity for multiple, benign head and neck paragangliomas. METHODS: Diagnosis of a sporadic paraganglioma or pheochromocytoma should lead to a full genetic workup of the patient and family if SDH mutations are found. RESULTS: Further annual screening will be required depending on the mutation, which can have a significant impact on radiologists and the resources of the radiology department. CONCLUSION: We present our imaging experience with a series of patients with proven SDH mutations resulting in paragangliomas with a review of the literature

Becoming and staying physically active in adolescents with cerebral palsy: protocol of a qualitative study of facilitators and barriers to physical activity

<p>Abstract</p> <p>Background</p> <p>Adolescents with cerebral palsy (CP) show a reduced physical activity (PA). Currently there are no interventions for adolescents with CP in this critical life phase that optimise and maintain the individuals' physical activity in the long term. To develop such a program it is important to fully understand the factors that influence physical activity behaviours in adolescents with CP. The aim of this study is to explore what makes it easy or hard for adolescents with CP to be and to become physically active.</p> <p>Methods/Design</p> <p>A qualitative research method is chosen to allow adolescents to voice their own opinion. Because we will investigate the lived experiences this study has a phenomenological approach. Thirty ambulatory and non-ambulatory adolescents (aged 10-18 years) with CP, classified as level I to IV on the Gross Motor Function Classification System and 30 parents of adolescents with CP will be invited to participate in one of the 6 focus groups or an individual interview. Therapists from all Children's Treatment Centres in Ontario, Canada, will be asked to fill in a survey. Focus groups will be audio- and videotaped and will approximately take 1.5 hours. The focus groups will be conducted by a facilitator and an assistant. In preparation of the focus groups, participants will fill in a demographic form with additional questions on physical activity. The information gathered from these questions and recent research on barriers and facilitators to physical activity will be used as a starting point for the content of the focus groups. Recordings of the focus groups will be transcribed and a content analysis approach will be used to code the transcripts. A preliminary summary of the coded data will be shared with the participants before themes will be refined.</p> <p>Discussion</p> <p>This study will help us gain insight and understanding of the participants' experiences and perspectives in PA, which can be of great importance when planning programs aimed at helping them to stay or to become physically active.</p

Transcription Profile Analysis Reveals That Zygotic Division Results in Uneven Distribution of Specific Transcripts in Apical/Basal Cells of Tobacco

BACKGROUND: Asymmetric zygotic division in higher plants results in the formation of an apical cell and a basal cell. These two embryonic cells possess distinct morphologies and cell developmental fates. It has been proposed that unevenly distributed cell fate determinants and/or distinct cell transcript profiles may be the underlying reason for their distinct fates. However, neither of these hypotheses has convincing support due to technical limitations. METHODOLOGY/PRINCIPAL FINDINGS: Using laser-controlled microdissection, we isolated apical and basal cells and constructed cell type-specific cDNA libraries. Transcript profile analysis revealed difference in transcript composition. PCR and qPCR analysis confirmed that transcripts of selected embryogenesis-related genes were cell-type preferentially distributed. Some of the transcripts that existed in zygotes were found distinctly existed in apical or basal cells. The cell type specific de novo transcription was also found after zygotic cell division. CONCLUSIONS/SIGNIFICANCE: Thus, we found that the transcript diversity occurs between apical and basal cells. Asymmetric zygotic division results in the uneven distribution of some embryogenesis related transcripts in the two-celled proembryos, suggesting that a differential distribution of some specific transcripts in the apical or basal cells may involve in guiding the two cell types to different developmental destinies

Small Increase of Actual Physical Activity 6 Months After Total Hip or Knee Arthroplasty

Limitation in daily physical activity is one of the reasons for total hip arthroplasty (THA) or total knee arthroplasty (TKA). However, studies of the effects of THA or TKA generally do not determine actual daily activity as part of physical functioning. We determined the effect of THA or TKA on patients’ actual physical activity and body function (pain, stiffness), capacity to perform tasks, and self-reported physical functioning. We also assessed whether there are differences in the effect of the surgery between patients undergoing THA or TKA and whether the improvements vary between these different outcome measures. We recruited patients with long-standing end-stage osteoarthritis of the hip or knee awaiting THA or TKA. Measurements were performed before surgery and 3 and 6 months after surgery. Actual physical activity improved by 0.7%. Patients’ body function, capacity, and self-reported physical functioning also improved. The effects of the surgery on these aspects of physical functioning were similar for THA and TKA. The effect on actual physical activity (8%) was smaller than on body function (80%–167%), capacity (19%–36%), and self-reported physical functioning (87%–112%). Therefore, in contrast to the large effect on pain and stiffness, patients’ capacity, and their self-reported physical functioning, the improvement in actual physical activity of our patients was less than expected 6 months after surgery

Malnutrition in patients treated for oral or oropharyngeal cancer—prevalence and relationship with oral symptoms: an explorative study

This study aimed to assess prevalence of malnutrition after treatment for oral/oropharyngeal cancer and to explore how oral symptoms relate to malnutrition after treatment. In this cross-sectional study, malnutrition (weight loss a parts per thousand yenaEuro parts per thousand 10% in 6 months or a parts per thousand yen5% in 1 month), oral symptoms (EORTC QLQ-H&N35 questionnaire and additional questions to assess chewing problems), dental status, trismus and dietary intake were assessed in 116 adult patients treated for oral/oropharyngeal cancer. Prevalence of malnutrition was 16% (95%CI: 10% to 23%). Prevalence of malnutrition in the period 0-3 months after treatment was significantly higher (25%) than in the periods > 3-12 months (13%) and > 12-36 months after treatment (3%, p = 0.008). Logistic multivariate regression analysis revealed that swallowing problems (p = 0.021) and insufficient protein intake were significantly related to malnutrition (p = 0.016). In conclusion, malnutrition is a considerable problem in patients treated for oral/oropharyngeal cancer, shortly after treatment. Of all oral symptoms, only swallowing problems were significantly related to malnutrition in the period after treatment for oral/oropharyngeal cancer

LEARN 2 MOVE 7-12 years: a randomized controlled trial on the effects of a physical activity stimulation program in children with cerebral palsy

<p>Abstract</p> <p>Background</p> <p>Regular participation in physical activities is important for all children to stay fit and healthy. Children with cerebral palsy have reduced levels of physical activity, compared to typically developing children. The aim of the LEARN 2 MOVE 7-12 study is to improve physical activity by means of a physical activity stimulation program, consisting of a lifestyle intervention and a fitness training program.</p> <p>Methods/Design</p> <p>This study will be a 6-month single-blinded randomized controlled trial with a 6-month follow up. Fifty children with spastic cerebral palsy, aged 7 to 12 years, with Gross Motor Function Classification System levels I-III, will be recruited in pediatric physiotherapy practices and special schools for children with disabilities. The children will be randomly assigned to either the intervention group or control group. The children in the control group will continue with their regular pediatric physiotherapy, and the children in the intervention group will participate in a 6-month physical activity stimulation program. The physical activity stimulation program consists of a 6-month lifestyle intervention, in combination with a 4-month fitness training program. The lifestyle intervention includes counseling the child and the parents to adopt an active lifestyle through Motivational Interviewing, and home-based physiotherapy to practise mobility-related activities in the daily situation. Data will be collected just before the start of the intervention (T0), after the 4-month fitness training program (T4), after the 6-month lifestyle intervention (T6), and after six months of follow-up (T12). Primary outcomes are physical activity, measured with the StepWatch Activity Monitor and with self-reports. Secondary outcomes are fitness, capacity of mobility, social participation and health-related quality of life. A random coefficient analysis will be performed to determine differences in treatment effect between the control group and the intervention group, with primary outcomes and secondary outcomes as the dependent variables.</p> <p>Discussion</p> <p>This is the first study that investigates the effect of a combined lifestyle intervention and fitness training on physical activity. Temporary effects of the fitness training are expected to be maintained by changes to an active lifestyle in daily life and in the home situation.</p> <p>Trial registration</p> <p>This study is registered in the Dutch Trial Register as NTR2099.</p

Pathophysiological Mechanisms of Severe Anaemia in Malawian Children

BACKGROUND: Severe anaemia is a major cause of morbidity and mortality in African children. The aetiology is multi-factorial, but interventions have often targeted only one or a few causal factors, with limited success. METHODS AND FINDINGS: We assessed the contribution of different pathophysiological mechanisms (red cell production failure [RCPF], haemolysis and blood loss) to severe anaemia in Malawian children in whom etiological factors have been described previously. More complex associations between etiological factors and the mechanisms were explored using structural equation modelling. In 235 children with severe anaemia (haemoglobin<3.2 mMol/L [5.0 g/dl]) studied, RCPF, haemolysis and blood loss were found in 48.1%, 21.7% and 6.9%, respectively. The RCPF figure increased to 86% when a less stringent definition of RCPF was applied. RCPF was the most common mechanism in each of the major etiological subgroups (39.7-59.7%). Multiple aetiologies were common in children with severe anaemia. In the final model, nutritional and infectious factors, including malaria, were directly or indirectly associated with RCPF, but not with haemolysis. CONCLUSION: RCPF was the most common pathway leading to severe anaemia, from a variety of etiological factors, often found in combination. Unlike haemolysis or blood loss, RCPF is a defect that is likely to persist to a significant degree unless all of its contributing aetiologies are corrected. This provides a further explanation for the limited success of the single factor interventions that have commonly been applied to the prevention or treatment of severe anaemia. Our findings underline the need for a package of measures directed against all of the local aetiologies of this often fatal paediatric syndrome

A single-blind randomised controlled trial of the effects of a web-based decision aid on self-testing for cholesterol and diabetes. study protocol

Background: Self-tests, tests on body materials to detect medical conditions, are widely available to the general public. Self-testing does have advantages as well as disadvantages, and the debate on whether self-testing should be encouraged or rather discouraged is still ongoing. One of the concerns is whether consumers have sufficient knowledge to perform the test and interpret the results. An online decision aid (DA) with information on self-testing in general, and test specific information on cholesterol and diabetes self-testing was developed. The DA aims to provide objective information on these self-tests as well as a decision support tool to weigh the pros and cons of self-testing. The aim of this study is to evaluate the effect of the online decision aid on knowledge on self-testing, informed choice, ambivalence and psychosocial determinants. Methods/Design: A single blind randomised controlled trial in which the online decision aid 'zelftestwijzer' is compared to short, non-interactive information on self-testing in general. The entire trial will be conducted online. Participants will be selected from an existing Internet panel. Consumers who are considering doing a cholesterol or diabetes self-test in the future will be included. Outcome measures will be assessed directly after participants have viewed either the DA or the control condition. Weblog files will be used to record participants' use of the decision aid. Discussion: Self-testing does have important pros and cons, and it is important that consumers base their decision whether they want to do a self-test or not on knowledge and personal values. This study is the first to evaluate the effect of an online decision aid for self-testing

Ethnicity and thrombolysis in ischemic stroke: a hospital based study in Amsterdam

<p>Abstract</p> <p>Background</p> <p>Ethnic differences have been reported with regard to several medical therapies. The aim of this study was to investigate the relation between ethnicity and thrombolysis in stroke patients.</p> <p>Methods</p> <p>Retrospective single-centre study. Patients admitted with an ischemic stroke between 2003 and 2008 were included. Ethnicity was determined by self-identification and stratified into white and non-white (all other ethnicities). The main outcome measure was the difference in thrombolysis rate between white and non-white patients. Logistic regression analysis was used to identify potential confounders of the relation between ethnicity and thrombolysis.</p> <p>Results</p> <p>510 patients were included, 392 (77%) white and 118 (23%) non-white. Non-white patients were younger (median 69 vs. 60 years, p < 0.001), had a higher blood pressure at admission (median systolic 150 vs. 160 mmHg, p = 0.02) and a lower stroke severity (median NIHSS 5 vs. 4, p = 0.04). Non-white patients were significantly less often treated with thrombolysis compared to white patients (odds ratio 0.34, 95% CI 0.17-0.71), which was partly explained by a later arrival at the hospital. After adjustment for potential confounders (late arrival, age, blood pressure above upper limit for thrombolysis, and oral anticoagulation use), a trend towards a lower thrombolysis rate in non-whites remained (adjusted odds ratio 0.38, 95% CI 0.13 to 1.16).</p> <p>Conclusions</p> <p>Non-white stroke patients less often received thrombolysis than white patients, partly as a result of a delay in presentation. In this single centre study, potential bias due to hospital differences or insurance status could be ruled out as a cause. The magnitude of the difference is worrisome and requires further investigation. Modifiable causes, such as patient delay, awareness of stroke symptoms, language barriers and treatment of cardiovascular risk factors, should be addressed specifically in these ethnic groups in future stroke campaigns.</p