A pilot study of a genetic CJD risk factor (E200K) in the general Slovak population

Mitrová, E; Kosorinova, Dana; Gajdoš, Martin; Šebeková, Katarı́na; Tomeckova, Ivana

doi:10.1007/s10654-014-9937-9

Cited by 10 publications

(12 citation statements)

References 8 publications

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“…This fact raises the suspicion that a lot of cases have not been identified despite increasing awareness and improved diagnostic methods in Slovakia. Mitrova et al (6) suggest that undiagnosed sCJD cases and asymptomatic ''healthy'' carriers of the gCJD cases left without active surveillance would further increase the risk of iatrogenic CJD. This risk is further exacerbated in a situation where there is no official database of positive tested living siblings for the transplantation registries in Slovakia.…”

Section: Discussionmentioning

confidence: 99%

“…A genetic cluster of gCJD with the unique presence of E200K mutation was detected in Slovakia (1,4,5). Genetic testing in Slovakia identified familial clusters of the disease in northern Slovakia with a gene penetrance in the affected families of about 60%, raising the probability of environmental cofactors playing a role in disease manifestation in separated siblings (6)(7)(8).…”

Section: Introductionmentioning

confidence: 99%

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Creutzfeldt-Jakob disease surveillance in Eastern Slovakia from 2004 to 2016

Feketeová¹,

Jarcusková²,

Janakova³

et al. 2018

Cent Eur J Public Health

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Objectives: An extraordinary incidence of genetic Creutzfeldt-Jakob disease (gCJD) appearing in clusters in the Slovak Republic was described in the 1990's. The aim of the study was to analyse data of CJD cases obtained from surveillance in Eastern Slovakia (ES) (2004-2016), the region outside the described geographical clusters. Methods: The database set in the project was the source for epidemiological and clinical analysis of CJD cases. Results: The incidence of CJD in ES (2004-2016) was 1.7/million person-years (95% CI 1-2.4); the incidence increase in the last five years (2012-2016) was comparable to the whole country. Twenty seven of 29 reported CJD cases were available for analysis (mean age 59 years, F/M 15/12). The proportion of gCJD (E200K mutation) cases remained dominant (78%), with 9 familiar cases originating in 4 families. Analysis of the clinical features revealed shorter duration of the symptomatic phase in sporadic CJD (sCJD) (3.4 months) versus gCJD (5.15 months). Cognitive/ behavioural changes, insomnia, and sensory disturbance were more pronounced in the early symptoms of gCJD. Periodic EEG discharges were more frequent in sCJD (83%) than gCJD (56%), all 19 available MR findings were CJD specific and localisation of abnormalities varied amongst the CJD forms. Conclusions: The surveillance of CJD in ES (2004-2016) showed an increased incidence of CJD in ES, reaching the incidence rate of the whole country, with a permanent proportion of 70% gCJD cases based on the E200K mutation. Clinical, electrophysiological and MR features of sCJD and gCJD cases were in conformity with already published data. Epidemiological analysis of CJD in ES shows increasing detection of CJD but also suggests that current routine surveillance systems for CJD may underestimate the true burden of disease, especially sporadic cases in Slovakia.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Creutzfeldt-Jakob disease surveillance in Eastern Slovakia from 2004 to 2016

Feketeová¹,

Jarcusková²,

Janakova³

et al. 2018

Cent Eur J Public Health

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“…Electronic literature searches were performed to identify articles that report on the extent to which surgical instruments remain in their original sets following use and decontamination. Terms for 'instrument decontamination' (see Appendix 1, search strategy lines 36-41) were combined with 'high-risk surgical procedures' (see Appendix 1, search strategy lines [42][43][44][45][46][47][48][49][50][51][52][53][54][55][56]. A list of high-risk surgical procedures were taken from appendix C of NICE IPG196.…”

Section: Searches For the Secondary Transmission Of Cjd By Invasive Dmentioning

confidence: 99%

“…Genetic forms of CJD are most often associated with a mutation at codon 200. 46 Mitrova et al 47 report that although gCJD represents approximately 10-15% of all CJD patients in the majority of countries, in Slovakia the rate of gCJD has been higher than 65% since 1975 owing to an accumulation of gCJD incidence in two clusters in central Slovakia. The authors state that all but one of the 202 patients who had gCJD in Slovakia carried the mutation form E200K and highlight that asymptomatic carriers of this gene could contribute to iatrogenic transmission of CJD.…”

Section: Ethnic and Geographical Differencesmentioning

confidence: 99%

“…The potential for horizontal transmission of gCJD, as discussed previously, was raised by the unusually high prevalence of gCJD in Slovakia. 47 Ritchie et al 171 report from an animal study of squirrel monkeys that no clinical or pathological signs of CJD were observed following blood transfusion of either sCJD or vCJD of the intracerebral-inoculated monkeys after euthanasia at 7 years. However, there was evidence that GSS, a form of gCJD, transmitted autopsy-proven disease to two intracerebral-inoculated monkeys after incubation periods of 34 and 39 months.…”

Section: Infectivity Of Genetic Creutzfeldt-jakob Diseasementioning

confidence: 99%

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Interventions to reduce the risk of surgically transmitted Creutzfeldt–Jakob disease: a cost-effective modelling review

Stevenson

Uttley

Oakley

et al. 2020

Health Technol Assess

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Background Creutzfeldt–Jakob disease is a fatal neurological disease caused by abnormal infectious proteins called prions. Prions that are present on surgical instruments cannot be completely deactivated; therefore, patients who are subsequently operated on using these instruments may become infected. This can result in surgically transmitted Creutzfeldt–Jakob disease. Objective To update literature reviews, consultation with experts and economic modelling published in 2006, and to provide the cost-effectiveness of strategies to reduce the risk of surgically transmitted Creutzfeldt–Jakob disease. Methods Eight systematic reviews were undertaken for clinical parameters. One review of cost-effectiveness was undertaken. Electronic databases including MEDLINE and EMBASE were searched from 2005 to 2017. Expert elicitation sessions were undertaken. An advisory committee, convened by the National Institute for Health and Care Excellence to produce guidance, provided an additional source of information. A mathematical model was updated focusing on brain and posterior eye surgery and neuroendoscopy. The model simulated both patients and instrument sets. Assuming that there were potentially 15 cases of surgically transmitted Creutzfeldt–Jakob disease between 2005 and 2018, approximate Bayesian computation was used to obtain samples from the posterior distribution of the model parameters to generate results. Heuristics were used to improve computational efficiency. The modelling conformed to the National Institute for Health and Care Excellence reference case. The strategies evaluated included neither keeping instruments moist nor prohibiting set migration; ensuring that instruments were kept moist; prohibiting instrument migration between sets; and employing single-use instruments. Threshold analyses were undertaken to establish prices at which single-use sets or completely effective decontamination solutions would be cost-effective. Results A total of 169 papers were identified for the clinical review. The evidence from published literature was not deemed sufficiently strong to take precedence over the distributions obtained from expert elicitation. Forty-eight papers were identified in the review of cost-effectiveness. The previous modelling structure was revised to add the possibility of misclassifying surgically transmitted Creutzfeldt–Jakob disease as another neurodegenerative disease, and assuming that all patients were susceptible to infection. Keeping instruments moist was estimated to reduce the risk of surgically transmitted Creutzfeldt–Jakob disease cases and associated costs. Based on probabilistic sensitivity analyses, keeping instruments moist was estimated to on average result in 2.36 (range 0–47) surgically transmitted Creutzfeldt–Jakob disease cases (across England) caused by infection occurring between 2019 and 2023. Prohibiting set migration or employing single-use instruments reduced the estimated risk of surgically transmitted Creutzfeldt–Jakob disease cases further, but at considerable cost. The estimated costs per quality-adjusted life-year gained of these strategies in addition to keeping instruments moist were in excess of £1M. It was estimated that single-use instrument sets (currently £350–500) or completely effective cleaning solutions would need to cost approximately £12 per patient to be cost-effective using a £30,000 per quality-adjusted life-year gained value. Limitations As no direct published evidence to implicate surgery as a cause of Creutzfeldt–Jakob disease has been found since 2005, the estimations of potential cases from elicitation are still speculative. A particular source of uncertainty was in the number of potential surgically transmitted Creutzfeldt–Jakob disease cases that may have occurred between 2005 and 2018. Conclusions Keeping instruments moist is estimated to reduce the risk of surgically transmitted Creutzfeldt–Jakob disease cases and associated costs. Further surgical management strategies can reduce the risks of surgically transmitted Creutzfeldt–Jakob disease but have considerable associated costs. Study registration This study is registered as PROSPERO CRD42017071807. Funding This project was funded by the National Institute for Health Research (NIHR) Health Technology Assessment programme and will be published in full in Health Technology Assessment; Vol. 24, No. 11. See the NIHR Journals Library website for further project information.

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The Rotterdam Study: 2014 objectives and design update

et al. 2013

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The Rotterdam Study is a prospective cohort study ongoing since 1990 in the city of Rotterdam in The Netherlands. The study targets cardiovascular, endocrine, hepatic, neurological, ophthalmic, psychiatric, dermatological, oncological, and respiratory diseases. As of 2008, 14,926 subjects aged 45 years or over comprise the Rotterdam Study cohort. The findings of the Rotterdam Study have been presented in over a 1,000 research articles and reports (see www.erasmus-epidemiology.nl/rotterdamstudy ). This article gives the rationale of the study and its design. It also presents a summary of the major findings and an update of the objectives and methods.

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A pilot study of a genetic CJD risk factor (E200K) in the general Slovak population

Cited by 10 publications

References 8 publications

Creutzfeldt-Jakob disease surveillance in Eastern Slovakia from 2004 to 2016

Creutzfeldt-Jakob disease surveillance in Eastern Slovakia from 2004 to 2016

Interventions to reduce the risk of surgically transmitted Creutzfeldt–Jakob disease: a cost-effective modelling review

The Rotterdam Study: 2014 objectives and design update

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