| 1. |
- Lepperdinger, Ulrike, et al.
(författare)
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Oral characteristics in adult individuals with periodontal Ehlers-Danlos syndrome
- 2022
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Ingår i: Journal of Clinical Periodontology. - : John Wiley & Sons. - 0303-6979 .- 1600-051X. ; 49:12, s. 1244-1252
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Tidskriftsartikel (refereegranskat)abstract
- Aim: Periodontal Ehlers-Danlos syndrome (pEDS) is a monogenic type of Ehlers-Danlos syndrome characterized by periodontal destruction at a young age. The present study aimed to document the oral phenotype of pEDS based on prospective clinical investigations.Materials and Methods: Thirty-five adult individuals from 13 families with a clinically and genetically confirmed diagnosis of pEDS underwent a systematic oral assessment.Results: Periodontitis stage 3 or 4 or edentulism due to periodontal destruction were diagnosed in 94% of the individuals. First permanent tooth loss was reported at the age of 21.5 years (median; range 13–43 years). Deep periodontal pockets were infrequent, with 94% measuring <4 mm. However, there was increased clinical attachment loss (CAL) averaging 8 mm (range 4–13 mm), and the probability of being edentate between the age of 35 and 44 years was 28–47% compared with less than 0.25% of the general population. Radiographic anomalous findings were only found in a portion of subjects and consisted of fused roots of maxillary second molars (81%), root hypoplasia (57%), taurodontism (26%) and tooth rotation of premolars (67%). As such, radiographic findings are not considered common characteristics of pEDS.Conclusions: Characteristic oral traits of pEDS in adults are severe CAL with shallow probing depths and marked gingival recession. This is complemented by a lack of attached gingiva. These indications need to be paralleled by genetic analyses to diagnose pEDS unambiguously.
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| 2. |
- Marklund, Matti, et al.
(författare)
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Estimated Benefits and Risks of Using a Reduced-Sodium, Potassium-Enriched Salt Substitute in India : A Modeling Study
- 2022
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Ingår i: Hypertension. - : Lippincott Williams & Wilkins. - 0194-911X .- 1524-4563. ; 79:10, s. 2188-2198
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Tidskriftsartikel (refereegranskat)abstract
- Background: Salt substitution (ie, replacement of table and cooking salt with potassium-enriched salt substitutes) is a promising strategy to reduce blood pressure and prevent cardiovascular disease, particularly in countries like India where there is high sodium intake, mainly from discretionary salt, and low potassium intake. Life-threatening hyperkalemia from increased potassium intake is a postulated concern for individuals with chronic kidney disease.Methods: We used comparative risk assessment models to estimate the number of (1) cardiovascular deaths averted due to blood pressure reductions; (2) potential hyperkalemia-related deaths from increased potassium intake in individuals with advanced chronic kidney disease; and (3) net averted deaths from nationwide salt substitution in India. We evaluated a conservative scenario, based on a large, long-term pragmatic trial in rural China; and an optimistic scenario informed by our recent trial in India. Sensitivity analyses were conducted to assess the robustness of the findings.Results: In the conservative scenario, a nationwide salt substitution intervention was estimated to result in approximate to 214 000 (95% uncertainty interval, 92 764-353 054) averted deaths from blood pressure reduction in the total population and approximate to 52 000 (22 961-80 211) in 28 million individuals with advanced chronic kidney disease, while approximate to 22 000 (15 221-31 840) hyperkalemia-deaths might be caused by the intervention. The corresponding estimates for the optimistic scenario were approximate to 351 000 (130 470-546 255), approximate to 66 000 (24 925-105 851), and approximate to 9000 (4251-14 599). Net benefits were consistent across sensitivity analyses.Conclusions: Modeling nationwide salt substitution in India consistently estimated substantial net benefits, preventing around 8% to 14% of annual cardiovascular deaths. Even allowing for potential hyperkalemia risks there were net benefits estimated for individuals with chronic kidney disease.
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| 3. |
- Marklund, Matti, et al.
(författare)
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Estimated population wide benefits and risks in China of lowering sodium through potassium enriched salt substitution : modelling study
- 2020
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Ingår i: The BMJ. - : BMJ Publishing Group Ltd. - 1756-1833. ; 369
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Tidskriftsartikel (refereegranskat)abstract
- OBJECTIVES: To estimate the effects of nationwide replacement of discretionary salt (used at table or during cooking) with potassium enriched salt substitute on morbidity and death from cardiovascular disease in China.DESIGN: Modelling study.SETTING: China.POPULATION: Adult population in China, and specifically individuals with chronic kidney disease (about 17 million people).INTERVENTIONS: Comparative risk assessment models were used to estimate the effects of a nationwide intervention to replace discretionary dietary salt with potassium enriched salt substitutes (20-30% potassium chloride). The models incorporated existing data and corresponding uncertainties from randomised trials, the China National Survey of Chronic Kidney Disease, the Global Burden of Disease Study, and the Chronic Kidney Disease Prognosis Consortium.MAIN OUTCOME MEASURES: Averted deaths from cardiovascular disease, non-fatal events, and disability adjusted life years from a reduction in blood pressure were estimated after implementation of potassium enriched salt substitution. In individuals with chronic kidney disease, additional deaths from cardiovascular disease related to hyperkalaemia from increased intake of potassium were calculated. The net effects on deaths from cardiovascular disease were estimated as the difference and ratio of averted and additional deaths from cardiovascular disease.RESULTS: Nationwide implementation of potassium enriched salt substitution could prevent about 461 000 (95% uncertainty interval 196 339 to 704 438) deaths annually from cardiovascular disease, corresponding to 11.0% (4.7% to 16.8%) of annual deaths from cardiovascular disease in China; 743 000 (305 803 to 1 273 098) non-fatal cardiovascular events annually; and 7.9 (3.3 to 12.9) million disability adjusted life years related to cardiovascular disease annually. The intervention could potentially produce an estimated 11 000 (6422 to 16 562) additional deaths related to hyperkalaemia in individuals with chronic kidney disease. The net effect would be about 450 000 (183 699 to 697 084) fewer deaths annually from cardiovascular disease in the overall population and 21 000 (1928 to 42 926) fewer deaths in individuals with chronic kidney disease. In deterministic sensitivity analyses, with changes to key model inputs and assumptions, net benefits were consistent in the total population and in individuals with chronic kidney disease, with averted deaths outweighing additional deaths.CONCLUSIONS: Nationwide potassium enriched salt substitution in China was estimated to result in a substantial net benefit, preventing around one in nine deaths from cardiovascular disease overall. Taking account of the risks of hyperkalaemia, a substantial net benefit was also estimated for individuals with chronic kidney disease.
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| 4. |
- Scholl, Ute I, et al.
(författare)
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Somatic and germline CACNA1D calcium channel mutations in aldosterone-producing adenomas and primary aldosteronism
- 2013
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 45:9, s. 1050-1054
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Tidskriftsartikel (refereegranskat)abstract
- Adrenal aldosterone-producing adenomas (APAs) constitutively produce the salt-retaining hormone aldosterone and are a common cause of severe hypertension. Recurrent mutations in the potassium channel gene KCNJ5 that result in cell depolarization and Ca2+ influx cause ~40% of these tumors1. We identified 5 somatic mutations (4 altering Gly403 and 1 altering Ile770) in CACNA1D, encoding a voltage-gated calcium channel, among 43 APAs without mutated KCNJ5. The altered residues lie in the S6 segments that line the channel pore. Both alterations result in channel activation at less depolarized potentials; Gly403 alterations also impair channel inactivation. These effects are inferred to cause increased Ca2+ influx, which is a sufficient stimulus for aldosterone production and cell proliferation in adrenal glomerulosa2. We also identified de novo germline mutations at identical positions in two children with a previously undescribed syndrome featuring primary aldosteronism and neuromuscular abnormalities. These findings implicate gain-of-function Ca2+ channel mutations in APAs and primary aldosteronism.
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| 5. |
- Walker, Marion F, et al.
(författare)
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Improving the Development, Monitoring and Reporting of Stroke Rehabilitation Research: Consensus-Based Core Recommendations from the Stroke Recovery and Rehabilitation Roundtable.
- 2017
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Ingår i: Neurorehabilitation and neural repair. - : SAGE Publications. - 1552-6844 .- 1545-9683. ; 31:10-11, s. 877-884
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Tidskriftsartikel (refereegranskat)abstract
- Recent reviews have demonstrated that the quality of stroke rehabilitation research has continued to improve over the last four decades but despite this progress, there are still many barriers in moving the field forward. Rigorous development, monitoring and complete reporting of interventions in stroke trials are essential in providing rehabilitation evidence that is robust, meaningful and implementable. An international partnership of stroke rehabilitation experts committed to develop consensus-based core recommendations with a remit of addressing the issues identified as limiting stroke rehabilitation research in the areas of developing, monitoring and reporting stroke rehabilitation interventions. Work exploring each of the three areas took place via multiple teleconferences and a two-day meeting in Philadelphia in May 2016. A total of 15 recommendations were made. To validate the need for the recommendations, the group reviewed all stroke rehabilitation trials published in 2015 (n=182 papers). Our review highlighted that the majority of publications did not clearly describe how interventions were developed or monitored during the trial. In particular, under-reporting of the theoretical rationale for the intervention and the components of the intervention call into question many interventions that have been evaluated for efficacy. More trials were found to have addressed the reporting of interventions recommendations than those related to development or monitoring. Nonetheless, the majority of reporting recommendations were still not adequately described. To progress the field of stroke rehabilitation research and to ensure stroke patients receive optimal evidence-based clinical care, we urge the research community to endorse and adopt our recommendations.
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| 6. |
- Walker, Marion F., et al.
(författare)
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Improving the development, monitoring and reporting of stroke rehabilitation research: Consensus-based core recommendations from the Stroke Recovery and Rehabilitation Roundtable
- 2017
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Ingår i: International Journal of Stroke. - : SAGE Publications. - 1747-4930 .- 1747-4949. ; 12, s. 472-479
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Tidskriftsartikel (refereegranskat)abstract
- © 2017, © 2017 World Stroke Organization. Recent reviews have demonstrated that the quality of stroke rehabilitation research has continued to improve over the last four decades but despite this progress, there are still many barriers in moving the field forward. Rigorous development, monitoring and complete reporting of interventions in stroke trials are essential in providing rehabilitation evidence that is robust, meaningful and implementable. An international partnership of stroke rehabilitation experts committed to develop consensus-based core recommendations with a remit of addressing the issues identified as limiting stroke rehabilitation research in the areas of developing, monitoring and reporting stroke rehabilitation interventions. Work exploring each of the three areas took place via multiple teleconferences and a two-day meeting in Philadelphia in May 2016. A total of 15 recommendations were made. To validate the need for the recommendations, the group reviewed all stroke rehabilitation trials published in 2015 (n = 182 papers). Our review highlighted that the majority of publications did not clearly describe how interventions were developed or monitored during the trial. In particular, under-reporting of the theoretical rationale for the intervention and the components of the intervention call into question many interventions that have been evaluated for efficacy. More trials were found to have addressed the reporting of interventions recommendations than those related to development or monitoring. Nonetheless, the majority of reporting recommendations were still not adequately described. To progress the field of stroke rehabilitation research and to ensure stroke patients receive optimal evidence-based clinical care, we urge the research community to endorse and adopt our recommendations.
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