Introduction: Short QT Syndrome (SQTS) is a rare but dangerous condition characterised by abbreviated repolarisation, atrial and ventricular arrhythmias and risk of sudden death. Implantable cardioverter defibrillators (ICDs) are a first line protection against sudden death, but adjunct pharmacology is beneficial and desirable.
Areas covered: The genetic basis for genotyped SQTS variants (SQT1-SQT8) and evidence for arrhythmia substrates from experimental and simulation studies are discussed. The main ion channel/transporter targets for antiarrhythmic pharmacology are considered in respect of potential genotype-specific and non-specific treatments for the syndrome.
Expert opinion: Potassium channel blockade is valuable for restoring repolarisation and QT interval, though genotype-specific limitations exist in the use of some K+ channel inhibitors. A combination of K+ current inhibition during the action potential plateau, with sodium channel inhibition that collectively result in delaying repolarisation and post-repolarisation refractoriness is likely to be valuable in prolonging effective refractory period and wavelength for re-entry. Genotype-specific K+ channel inhibition is limited by a lack of targeted inhibitors in clinical use, though experimentally available selective inhibitors now exist. The relatively low proportion of successfully genotyped cases justifies an exome or genome sequencing approach, to reveal new mediators and targets, as demonstrated recently for SLC4A3 in SQT8. 相似文献
OBJECTIVES: We report the development and psychometric evaluation of short forms of the Oral Health Impact Profile German version (OHIP-G) - an instrument to assess oral health-related quality of life (OHRQoL). METHODS: A five-item short form was developed using best subset regression in 2050 subjects from a national survey. Two 14-item versions were derived from English-language short forms and a 21-item version from previous factor analytic work. A second sample from the general population (n = 163) and a sample of clinical patients with temporomandibular disorders (TMD; n = 175) were used to investigate validity and internal consistency. Test-retest reliability was evaluated in 30 prosthodontic patients before treatment. Responsiveness was assessed in 67 patients treated for their TMD pain. RESULTS: Associations between short form summary scores and self-report of oral health and four oral disorders in the general population and in TMD patients were interpreted as support for convergent/groups validity. The instruments' responsiveness (effect measures of 0.55-0.98), test-retest reliability (intraclass correlation coefficients: 0.72-0.87), and internal consistency (Cronbach's alpha: 0.65-0.92) were sufficient. CONCLUSIONS: Sufficient discriminative and evaluative psychometric properties of short forms of the OHIP-G make the instruments suitable to assess OHRQoL in cross-sectional as well as longitudinal studies. 相似文献
Summary To report about the feasibility of oral health-related quality of life assessment using two short forms of the Oral Health Impact Profile – OHIP-J14 and OHIP-J5 – in prosthodontic patients. Using the item pool of the Japanese version of the OHIP, two short forms based on a 14-item English-language version and a 5-item German-language questionnaire were derived. To test construct validity, the associations between summary scores of two short versions and self-reported oral health and self-reported denture quality have been investigated. Responsiveness was tested in 30 patients treated for their removable partial denture. Test–retest reliability using a time interval of 2 weeks and internal consistency were also tested. Associations between the two short form summary scores and self-reported oral health and denture quality supported construct validity of the instruments. Acceptable reliability for OHIP-J14 and OHIP-J5 was indicated by intra-class correlation coefficients of 0·73 and 0·75 (test–retest reliability) and CRONBACH'S alpha of 0·94 and 0·81 (internal consistency) respectively. Responsiveness was sufficient for OHIP-J14 and OHIP-J5 indicated by 'medium' effect sizes (0·50 and 0·57 respectively). In addition to sufficient discriminative psychometric properties, the ability to measure change of perceived oral health make OHIP-J14 and OHIP-J5 suitable for outcomes research. 相似文献