Sporadic Creutzfeldt-Jakob disease: a description of two cases

2012 ◽  
Vol 24 (7) ◽  
pp. 1183-1185 ◽  
Author(s):  
Kavita Das ◽  
Rebecca Davis ◽  
Brett DuToit ◽  
Brian Parsons
Keyword(s):  
Disease Process ◽  
Coordinated Care ◽  
Progressive Dementia ◽  
Spongiform Encephalopathies ◽  
Delivery Of Care ◽  
Central Nervous System Dysfunction ◽  
Jakob Disease ◽  
Multiple Challenges ◽  
The Uk ◽  
Adequate Management

ABSTRACTSporadic Creutzfeldt-Jakob disease (sCJD) is a rare and devastating illness. It is the most frequently encountered form of the spongiform encephalopathies with 50 new cases a year in the UK. It presents with a myriad of symptoms reflecting central nervous system dysfunction and is characterized by a rapidly progressive dementia leading to death. The disease process can pose multiple challenges: diagnostic conundrums, complexities in management, and palliative care issues. Good coordinated care between services and information is paramount in adequate management and delivery of care for patients suffering from sCJD.Psychiatry services frequently become involved in the assessment and management of sCJD.

scholarly journals Transmissible Spongiform Encephalopathies: An Underrecognized Infection Control Issue

2020 ◽  
Vol 41 (S1) ◽  
pp. s82-s82
Author(s):  
Christina Kaul ◽  
Aradhana Khameraj ◽  
Prashant Malhotra ◽  
Bruce Farber
Keyword(s):  
Infection Control ◽  
Positive Result ◽  
Lumbar Puncture ◽  
Control Measures ◽  
Transmissible Spongiform Encephalopathies ◽  
Progressive Dementia ◽  
Spongiform Encephalopathies ◽  
Abnormal Protein ◽  
Infection Control Measures ◽  
Jakob Disease

Background: Transmissible spongiform encephalopathies comprise a class of rapidly progressive and inevitably fatal degenerative brain disorders. The pathogenesis of these diseases is thought to be due to a change in the structure of the normal prion protein to an abnormal structure, leading to propagation of the abnormal protein. This abnormal protein is highly transmissible; thus, appropriate infection control measures should be put in place if the diagnosis is suspected. However, the diagnosis is often not considered at all, and many hospitals do not have protocols in place. Our hospital missed a case of familial fatal insomnia in a 45-year-old male. He was diagnosed with fatal familial insomnia by autopsy. The autopsy was performed without appropriate infection control measures, leading to costly contamination of medical instruments and exposure of multiple staff. This occurrence led our institution to re-evaluate hospital protocols and guidelines regarding workup and management of transmissible spongiform encephalopathies (TSEs). Methods: We reviewed cases of TSEs or Creutzfeldt-Jakob Disease (CJD)-like illness presenting to our hospital over a 30-month period. Patients were considered for inclusion based on clinical suspicion. CDC diagnostic criteria were used. Infection control measures were employed, including an alert in the EMR. MRI was then performed. If clinical or diagnostic suspicion was high, the patient underwent lumbar puncture. CSF results were reviewed based on criteria Creutzfeldt-Jakob Disease Foundation criteria. Infection control measures were maintained throughout hospitalization. Results: In total, 34 patients met the inclusion criteria: 8 patients had confirmed CJD and 25 were negative. Medical records were not available for 1 patient, who was excluded. Lumbar puncture was performed on all suspected cases. Of those confirmed cases, the 7 patients who underwent lumber puncture had a positive result for 14-3-3 protein. Also, 5 patients underwent RT-QuIC testing and were found to have a positive result. No further cases of contamination occurred using our protocol. Additionally, 1 patient with suspected CJD underwent a brain biopsy with appropriate precautions after an inconclusive lumbar puncture. Although biospy was negative, the case exemplifies how the initiation of a protocol can optimize the workflow and prevent potentially dangerous exposure. Conclusion: Diagnosis of TSEs remains difficult and is often missed. In our case, lack of suspicion for TSE led to a waste of resources and unnecessary exposure of staff member. It is of utmost importance to consider TSEs in rapidly progressive dementia and to employ appropriate sterile guidelines to prevent contamination of equipment and potential subsequent transmission. Healthcare providers should consider a similar protocol in cases suspicious for TSEs.Funding: NoneDisclosures: None

Best practice for chronic oedema in community settings: what can we learn?

2020 ◽  
Vol 25 (12) ◽  
pp. 610-614
Author(s):  
Garry Cooper-Stanton
Keyword(s):  
Service Provision ◽  
Best Practice ◽  
Evidence Base ◽  
Community Services ◽  
Guidance Document ◽  
Community Settings ◽  
Tissue Viability ◽  
Delivery Of Care ◽  
Specialist Nurses ◽  
The Uk

There are various opportunities and challenges in the delivery of care to those diagnosed with chronic oedema/lymphoedema. Service provision is not consistent within the UK, and non-specialist nurses and other health professionals may be called on to fill the gaps in this area. The latest best practice guidance on chronic oedema is directed at community services that care for people within their own homes in primary care. This guide was developed in order to increase awareness, knowledge and access to an evidence base. Those involved in its creation cross specialist fields (lymphoedema and tissue viability), resulting in the document covering a number of areas, including an explanation of chronic oedema, its assessment and management and the association between chronic oedema and wet legs. The document complements existing frameworks on the condition and its management and also increases the available tools within chronic oedema management in the community. The present article provides an overview of the guidance document and discusses its salient features.

scholarly journals A Case of Familial Creutzfeldt-Jakob Disease Presenting with Dry Cough

2006 ◽  
Vol 33 (2) ◽  
pp. 243-245 ◽  
Author(s):  
Sandrine Larue ◽  
Steve Verreault ◽  
Peter Gould ◽  
Michael B. Coulthart ◽  
Catherine Bergeron ◽  
...  
Keyword(s):  
Clinical Presentation ◽  
Mutation Screening ◽  
Disease Onset ◽  
Visual Hallucinations ◽  
Progressive Dementia ◽  
Gene Encoding ◽  
Progressive Ataxia ◽  
Persistent Cough ◽  
Jakob Disease ◽  
Classical Triad

ABSTRACT:Background:Clinical diagnosis of Creutzfeldt-Jakob disease (CJD) is based on the classical triad of rapidly progressive dementia, myoclonus and abnormal EEG. The 200k mutation within the gene encoding PrP, located on the short arm of chromosome 20, accounts for more than 70% of families with CJD worldwide.Case Report:Herein, we report a patient who developed persistent dry cough and classical signs of CJD, including severe cognitive decline, cerebellar signs, and myoclonic jerks, leading to death a few weeks after disease onset. Mutation screening showed that he had the 200k point mutation in the PRNP gene. His mother had died twenty years earlier with neuropathologically confirmed CJD. She had presented a rapidly progressive ataxia with myoclonus, dementia, visual hallucinations, and the same persistent dry cough.Conclusions:The clinical presentation of this familial CJD case with persistent dry cough is quite unusual. Therefore, a neurological etiology should be sought when confronted with an unexplained persistent cough.

Deep Learning Representation from Electroencephalography of Early-Stage Creutzfeldt-Jakob Disease and Features for Differentiation from Rapidly Progressive Dementia

2016 ◽  
Vol 27 (02) ◽  
pp. 1650039 ◽  
Author(s):  
Francesco Carlo Morabito ◽  
Maurizio Campolo ◽  
Nadia Mammone ◽  
Mario Versaci ◽  
Silvana Franceschetti ◽  
...  
Keyword(s):  
Deep Learning ◽  
Supervised Learning ◽  
Early Stage ◽  
Processing System ◽  
Fine Tuning ◽  
Permutation Entropy ◽  
Support Vector ◽  
Progressive Dementia ◽  
Time Frequency ◽  
Jakob Disease

A novel technique of quantitative EEG for differentiating patients with early-stage Creutzfeldt–Jakob disease (CJD) from other forms of rapidly progressive dementia (RPD) is proposed. The discrimination is based on the extraction of suitable features from the time-frequency representation of the EEG signals through continuous wavelet transform (CWT). An average measure of complexity of the EEG signal obtained by permutation entropy (PE) is also included. The dimensionality of the feature space is reduced through a multilayer processing system based on the recently emerged deep learning (DL) concept. The DL processor includes a stacked auto-encoder, trained by unsupervised learning techniques, and a classifier whose parameters are determined in a supervised way by associating the known category labels to the reduced vector of high-level features generated by the previous processing blocks. The supervised learning step is carried out by using either support vector machines (SVM) or multilayer neural networks (MLP-NN). A subset of EEG from patients suffering from Alzheimer’s Disease (AD) and healthy controls (HC) is considered for differentiating CJD patients. When fine-tuning the parameters of the global processing system by a supervised learning procedure, the proposed system is able to achieve an average accuracy of 89%, an average sensitivity of 92%, and an average specificity of 89% in differentiating CJD from RPD. Similar results are obtained for CJD versus AD and CJD versus HC.

How to Limit the Spread of Creutzfeldt-Jakob Disease

1996 ◽  
Vol 17 (8) ◽  
pp. 521-528
Author(s):  
Dominique Dormont
Keyword(s):  
Blood Donation ◽  
Transmissible Spongiform Encephalopathy ◽  
Infected Individual ◽  
Experimental Models ◽  
Transmissible Spongiform Encephalopathies ◽  
Spongiform Encephalopathy ◽  
Spongiform Encephalopathies ◽  
Corneal Grafting ◽  
Jakob Disease ◽  
Spleen And Lymph Nodes

AbstractTransmissible spongiform encephalopathies are rare lethal diseases induced in humans and animals by unconventional agents called transmissible spongiform encephalopathy agents (TSEAs), virions, or prions. Several cases of iatrogenic Creutzfeldt-Jakob disease (CJD) have been reported in the literature after neuro-surgery, treatment with pituitary-derived hormones, corneal grafting, and use of dura mater lyophilisates. In a given infected individual, TSEA-associated infectiousness depends on the nature of the organ: the central nervous system has the highest infectiousness, spleen and lymph nodes a medium infectiousness, and organs such as bone, skin, or skeletal muscles do not harbor any detectable infectiousness in experimental models. Transmissible spongiform encephalopathy/prions have unconventional properties; in particular, they resist almost all the chemical and physical processes that inactivate conventional viruses. Therefore, prevention of CJD agent transmission must be taken into account in daily hospital practice. Efficient sterilization procedures should be determined. In tissue and blood donation, donors with a neurologic history must be excluded, and patients treated with pituitary-derived hormones should be considered potentially infected with TSEA and excluded.

Sporadic Creutzfeldt-Jakob disease in a 18-year-old in the UK

The Lancet ◽  
1995 ◽  
Vol 346 (8983) ◽  
pp. 1155-1156 ◽  
Author(s):  
D. Bateman ◽  
D. Hilton ◽  
S. Love ◽  
M. Zeidler ◽  
J. Beck ◽  
...  
Keyword(s):  
Jakob Disease ◽  
The Uk

Transmission dynamics and mechanisms of endemicity of scrapie in the UK sheep population

2008 ◽  
Vol 137 (6) ◽  
pp. 762-774 ◽  
Author(s):  
J. E. TRUSCOTT ◽  
N. M. FERGUSON
Keyword(s):  
Structural Diversity ◽  
Epidemiological Data ◽  
Transmissible Spongiform Encephalopathies ◽  
Spongiform Encephalopathies ◽  
Sheep Population ◽  
Mean Values ◽  
The United Kingdom ◽  
The Family ◽  
The Uk

SUMMARYScrapie is a fatal neurological disease of sheep which is endemic in the United Kingdom. It is one of the family of transmissible spongiform encephalopathies (TSEs) that includes BSE. In this paper, we developed a micro-simulation model for scrapie in the UK sheep population, incorporating the genetic and structural diversity of the population and infectious contact between flocks through trading. The simulation was fitted to epidemiological data from a range of sources. We found a detection/reporting probability of 16% (95% CI 12–17) for animals dying of scrapie. Prevalence of infected animals in the population was about 0·15%. Infected individuals were found in 9% of flocks overall, rising to 60% in Shetland and 75% in Swaledale flocks. Mean values of R0 for flocks varied with breed from 2·43 (Shetland) to 0·21 (Suffolk). We also examined the possible long-term persistence of scrapie in the UK flock in the absence of any intervention.

scholarly journals Prion Disease Blood Test Using Immunoprecipitation and Improved Quaking-Induced Conversion

mBio ◽  
2011 ◽  
Vol 2 (3) ◽  
Author(s):  
Christina D. Orrú ◽  
Jason M. Wilham ◽  
Lynne D. Raymond ◽  
Franziska Kuhn ◽  
Björn Schroeder ◽  
...  
Keyword(s):  
Real Time ◽  
Blood Test ◽  
Prion Diseases ◽  
Proteinase K ◽  
Transmissible Spongiform Encephalopathies ◽  
Serum Samples ◽  
Spongiform Encephalopathies ◽  
Jakob Disease

ABSTRACT A key challenge in managing transmissible spongiform encephalopathies (TSEs) or prion diseases in medicine, agriculture, and wildlife biology is the development of practical tests for prions that are at or below infectious levels. Of particular interest are tests capable of detecting prions in blood components such as plasma, but blood typically has extremely low prion concentrations and contains inhibitors of the most sensitive prion tests. One of the latter tests is quaking-induced conversion (QuIC), which can be as sensitive as in vivo bioassays, but much more rapid, higher throughput, and less expensive. Now we have integrated antibody 15B3-based immunoprecipitation with QuIC reactions to increase sensitivity and isolate prions from inhibitors such as those in plasma samples. Coupling of immunoprecipitation and an improved real-time QuIC reaction dramatically enhanced detection of variant Creutzfeldt-Jakob disease (vCJD) brain tissue diluted into human plasma. Dilutions of 1014-fold, containing ~2 attogram (ag) per ml of proteinase K-resistant prion protein, were readily detected, indicating ~10,000-fold greater sensitivity for vCJD brain than has previously been reported. We also discriminated between plasma and serum samples from scrapie-infected and uninfected hamsters, even in early preclinical stages. This combined assay, which we call “enhanced QuIC” (eQuIC), markedly improves prospects for routine detection of low levels of prions in tissues, fluids, or environmental samples. IMPORTANCE Transmissible spongiform encephalopathies (TSEs) are largely untreatable and are difficult to diagnose definitively prior to irreversible clinical decline or death. The transmissibility of TSEs within and between species highlights the need for practical tests for even the smallest amounts of infectivity. A few sufficiently sensitive in vitro methods have been reported, but most have major limitations that would preclude their use in routine diagnostic or screening applications. Our new assay improves the outlook for such critical applications. We focused initially on blood plasma because a practical blood test for prions would be especially valuable for TSE diagnostics and risk reduction. Variant Creutzfeldt-Jakob disease (vCJD) in particular has been transmitted between humans via blood transfusions. Enhanced real-time quaking-induced conversion (eRTQ) provides by far the most sensitive detection of vCJD to date. The 15B3 antibody binds prions of multiple species, suggesting that our assay may be useful for clinical and fundamental studies of a variety of TSEs of humans and animals.

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