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Bas C. Stunnenberg MD Samantha LoRusso MD W. David Arnold MD Richard J. Barohn MD Stephen C. Cannon MD PhD Bertrand Fontaine MD PhD Robert C. Griggs MD Michael G. Hanna FRCP FMedSci Emma Matthews MRCP PhD Giovanni Meola MD PhD Valeria A. Sansone MD PhD Jaya R. Trivedi MD Baziel G.M. van Engelen MD PhD Savine Vicart MD Jeffrey M. Statland MD 《Muscle & nerve》2020,62(4):430-444
The nondystrophic myotonias are rare muscle hyperexcitability disorders caused by gain-of-function mutations in the SCN4A gene or loss-of-function mutations in the CLCN1 gene. Clinically, they are characterized by myotonia, defined as delayed muscle relaxation after voluntary contraction, which leads to symptoms of muscle stiffness, pain, fatigue, and weakness. Diagnosis is based on history and examination findings, the presence of electrical myotonia on electromyography, and genetic confirmation. In the absence of genetic confirmation, the diagnosis is supported by detailed electrophysiological testing, exclusion of other related disorders, and analysis of a variant of uncertain significance if present. Symptomatic treatment with a sodium channel blocker, such as mexiletine, is usually the first step in management, as well as educating patients about potential anesthetic complications. 相似文献
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How do people interpret information about colorectal cancer screening: observations from a think‐aloud study 下载免费PDF全文
Samuel G. Smith MSc Gemma Vart PhD CPsychol Michael S. Wolf PhD MPH Austin Obichere MD FRCS Helen J. Baker BEd Rosalind Raine PhD FFPH Jane Wardle PhD FMedSci Christian von Wagner PhD 《Health expectations》2015,18(5):703-714
Background
The English NHS Bowel Cancer Screening Programme biennially invites individuals aged 60–74 to participate in screening. The booklet, ‘Bowel Cancer Screening: The Facts'' accompanies this invitation. Its primary aim is to inform potential participants about the aims, advantages and disadvantages of colorectal cancer screening.Objective
To provide detailed commentary on how individuals process the information contained within ‘The Facts’ booklet.Design, setting and participants
This study comprised of 18 interviews with individuals aged 45–60 and used a ‘think‐aloud’ paradigm in which participants read aloud the booklet. Participant utterances (verbal statements made in response to researcher‐led prompts) were transcribed and analysed using a combination of content and thematic analysis.Results
A total of 776 coded utterances were analysed (mean = 43.1 per person; range = 8–95). While overall comprehension was satisfactory, several problem areas were identified such as the use of complex unfamiliar terminology and the presentation of numerical information. Specific sections such as colonoscopy risk information evoked negative emotional responses. Participants made several suggestions for ways in which comprehension might be improved.Conclusion
Public perceptions of the NHS Bowel Cancer Screening Programme information materials indicated that specific aspects of the booklet were difficult to process. These materials may be an appropriate target to improve public understanding of the aims, benefits and disadvantages of colorectal cancer screening. These findings will contribute to a broader NIHR‐funded project that aims to design a supplementary ‘gist‐based’ information leaflet suitable for low literacy populations. 相似文献8.
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Neelima Mishra Surendra Kumar Prajapati Kamlesh Kaitholia Ram Suresh Bharti Bina Srivastava Sobhan Phookan Anupkumar R. Anvikar Vas Dev Gagan Singh Sonal Akshay Chandra Dhariwal Nicholas J. White Neena Valecha 《Antimicrobial agents and chemotherapy》2015,59(5):2548-2553
Malaria treatment in Southeast Asia is threatened with the emergence of artemisinin-resistant Plasmodium falciparum. Genome association studies have strongly linked a locus on P. falciparum chromosome 13 to artemisinin resistance, and recently, mutations in the kelch13 propeller region (Pfk-13) were strongly linked to resistance. To date, this information has not been shown in Indian samples. Pfk-13 mutations were assessed in samples from efficacy studies of artemisinin combination treatments in India. Samples were PCR amplified and sequenced from codon 427 to 727. Out of 384 samples, nonsynonymous mutations in the propeller region were found in four patients from the northeastern states, but their presence did not correlate with ACT treatment failures. This is the first report of Pfk-13 point mutations from India. Further phenotyping and genotyping studies are required to assess the status of artemisinin resistance in this region. 相似文献
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