Molecular and neurological characterizations of three Saudi families with lipoid proteinosis

<p>Abstract</p> <p>Background</p> <p>Lipoid proteinosis is a rare autosomal recessive disease characterized by cutaneous and mucosal lesions and hoarseness appearing in early childhood. It is caused by homozygous or compound heterozygous mutations in the <it>ECM1 </it>gene. The disease is largely uncharacterized in Arab population and the mutation(s) spectrum in the Arab population is largely unknown. We report the neurologic and neuroradiologic characteristics and <it>ECM1 </it>gene mutations of seven individuals with lipoid proteinosis (LP) from three unrelated consanguineous families.</p> <p>Methods</p> <p>Clinical, neurologic, and neuro-ophthalmologic examinations; skin histopathology; brain CT and MRI; and sequencing of the full<it>ECM1 </it>gene.</p> <p>Results</p> <p>All seven affected individuals had skin scarring and hoarseness from early childhood. The two children in Family 1 had worse skin involvement and worse hoarseness than affected children of Families 2 and 3. Both children in Family 1 were modestly mentally retarded, and one had typical calcifications of the amygdalae on CT scan. Affected individuals in Families 2 and 3 had no grossneurologic, neurodevelopmental, or neuroimaging abnormalities. Skin histopathology was compatible with LP in all three families. Sequencing the full coding region of <it>ECM1 </it>gene revealed two novel mutationsin Family 1 (c.1300-1301delAA) and Family 2 (p.Cys269Tyr) and in Family 3 a previously described 1163 bp deletion starting 34 bp into intron 8.</p> <p>Conclusions</p> <p>These individuals illustrate the neurologic spectrum of LP, including variable mental retardation, personality changes, and mesial temporal calcificationand imply that significant neurologic involvement may be somewhat less common than previously thought. The cause of neurologic abnormalities was not clear from either neuroimaging or from what is known about <it>ECM1 </it>function. The severity of dermatologic abnormalities and hoarseness generally correlated with neurologic abnormalities, with Family 1 being somewhat more affected in all spheres than the other two families. Nevertheless, phenotype-genotype correlation was not obvious, possibly because of difficulty quantifying the neurologic phenotype and because of genetic complexity.</p

Item Development and Face Validity of the Rheumatoid Arthritis Patient Priorities in Pharmacological Interventions Outcome Measures

© 2015, Springer International Publishing Switzerland. Background: The assessment of rheumatoid arthritis (RA) is dominated by core sets and indices that have been developed by RA professionals. Previous research developed a set of eight priority treatment outcomes generated by patients to complement the professionally developed core sets for RA. Objective: This study aimed to facilitate quantitative measurement of these outcomes. Methods: Two consultation meetings with patient research partners diagnosed with RA (n=18) were held to identify face validity in existing instruments (Phase 1) at the Bristol Royal Infirmary. Where validated measures did not exist, new numerical rating scales (NRS) were constructed and discussed at two focus groups with patients diagnosed with RA (n=8) at the Bristol Royal Infirmary and the Royal National Hospital for Rheumatic Diseases (Phase 2). Feedback on the stem question, time frame, anchors and layout was recorded and transcribed verbatim. Results: Of the eight priorities, existing NRS for pain, activities of daily living and fatigue were voted as acceptable (Phase 1), but new NRS were required for five priorities. The partners strongly recommended that the three separate domains of severity, effect and ability to cope in each measurement area be assessed, as in the existing validated fatigue NRS. Focus group participants (Phase 2) made significant contributions to the phrasing of questions, for example how to ensure ‘mobility’ could be uniformly understood and how changes in valued activities be judged appropriately. Conclusion: Through extensive patient feedback, 24 NRS were constructed based on priorities identified by patients and encompassing domains where existing questionnaires contain many more items and do not address three important concepts endorsed by patients: severity, effect and coping. The Rheumatoid Arthritis Patient Priorities in Pharmacological Interventions patient-reported outcome measures are now ready for the evaluation of comprehension, construct validity and sensitivity through an observational study

Social media for health promotion and weight management: A critical debate

© 2018 The Author(s). Background: In 2016 an estimated 1.9 billion adults world-wide were either overweight or obese. The health consequences of obesity are responsible for 2.8 million preventable deaths per year. The WHO now considers obesity as a global epidemic and recommends population-wide health promotion strategies to address this issue. Weight gain is caused by increased energy intake and physical inactivity, so treatment should focus on changes to behaviour regarding diet and physical activity. Discussion: The WHO has also recognised the importance of social resources as a valuable agent for behaviour change in health promotion. Social resources are translated at the community level as support provided by significant others such as family, partners and peers, in the form of information, material aid and encouragement. Social support has been shown to improve health and well-being, whereas social isolation has been shown to have a negative impact on health outcomes. Social support provided by peers has been shown to be a useful strategy to employ in weight management programmes. The documented increased use of ICT and social media has presented health promoters with a potentially useful medium to increase social support for weight management. Conclusion: While the use of social media for health promotion is an emerging field of investigation, preliminary research suggests that it increases participant engagement, and may provide a cost-effective tool to provide social support for individuals participating in weight management programmes. With stringent privacy protocols in place, social media may be a useful, cost-effective accompaniment to multifactorial weight management programmes. However more research is needed to identify how to make the best use of social media as health promotion tool

Spa therapy: can be a valid option for treating knee osteoarthritis?

Osteoarthritis (OA) continues to be one of the leading causes of 'years lived with disability' worldwide. Symptomatic knee OA is highly prevalent among people aged 50 years and over and is destined to become an ever more important healthcare problem. Current management of knee OA includes non-pharmacological and pharmacological treatments. Spa therapy is one of the most commonly used non-pharmacological approaches for OA in many European countries, as well as in Japan and Israel. Despite its long history and popularity, spa treatment is still the subject of debate and its role in modern medicine continues to be unclear. The objective of this review is to summarize the currently available information on clinical effects and mechanisms of action of spa therapy in knee OA. Various randomized controlled clinical trials (RCTs) were conducted to assess the efficacy and tolerability of balneotherapy and mud-pack therapy in patients with knee OA. Data from these clinical trials support a beneficial effect of spa therapy on pain, function and quality of life in knee OA that lasts over time, until 6-9 months after the treatment. The mechanisms by which immersion in mineral or thermal water or the application of mud alleviate suffering in OA are not fully understood. The net benefit is probably the result of a combination of factors, among which the mechanical, thermal and chemical effects are most prominent. In conclusion, spa therapy seems to have a role in the treatment of knee OA. Additional RCTs and further studies of mechanisms of action with high methodological quality are necessary to prove the effects of spa therapy

Addition of telephone coaching to a physiotherapist-delivered physical activity program in people with knee osteoarthritis: A randomised controlled trial protocol

<p>Abstract</p> <p>Background</p> <p>Knee osteoarthritis (OA) is one of the most common and costly chronic musculoskeletal conditions world-wide and is associated with substantial pain and disability. Many people with knee OA also experience co-morbidities that further add to the OA burden. Uptake of and adherence to physical activity recommendations is suboptimal in this patient population, leading to poorer OA outcomes and greater impact of associated co-morbidities. This pragmatic randomised controlled trial will investigate the clinical- and cost-effectiveness of adding telephone coaching to a physiotherapist-delivered physical activity intervention for people with knee OA.</p> <p>Methods/Design</p> <p>168 people with clinically diagnosed knee OA will be recruited from the community in metropolitan and regional areas and randomly allocated to physiotherapy only, or physiotherapy plus nurse-delivered telephone coaching. Physiotherapy involves five treatment sessions over 6 months, incorporating a home exercise program of 4–6 exercises (targeting knee extensor and hip abductor strength) and advice to increase daily physical activity. Telephone coaching comprises 6–12 telephone calls over 6 months by health practitioners trained in applying the Health Change Australia (HCA) Model of Health Change to provide behaviour change support. The telephone coaching intervention aims to maximise adherence to the physiotherapy program, as well as facilitate increased levels of participation in general physical activity. The primary outcomes are pain measured by an 11-point numeric rating scale and self-reported physical function measured by the Western Ontario and McMaster Universities Osteoarthritis Index subscale after 6 months. Secondary outcomes include physical activity levels, quality-of-life, and potential moderators and mediators of outcomes including self-efficacy, pain coping and depression. Relative cost-effectiveness will be determined from health service usage and outcome data. Follow-up assessments will also occur at 12 and 18 months.</p> <p>Discussion</p> <p>The findings will help determine whether the addition of telephone coaching sessions can improve sustainability of outcomes from a physiotherapist-delivered physical activity intervention in people with knee OA.</p> <p>Trial Registration</p> <p>Australian New Zealand Clinical Trials Registry reference: ACTRN12612000308897</p