Familial Creutzfeldt–Jakob disease homozygous to the E200K mutation: clinical characteristics and disease course

2020 ◽  
Vol 267 (8) ◽  
pp. 2455-2458 ◽  
Author(s):  
Zeev Nitsan ◽  
Oren S. Cohen ◽  
Joab Chapman ◽  
Esther Kahana ◽  
Amos D. Korczyn ◽  
...  
Keyword(s):  
Clinical Characteristics ◽  
Disease Course ◽  
E200k Mutation ◽  
Jakob Disease

scholarly journals Clinical analysis of 40 multiple myeloma patients with extramedullary plasmacytoma of the head

2016 ◽  
Vol 44 (6) ◽  
pp. 1462-1473 ◽  
Author(s):  
Wan-jun Sun ◽  
Jia-jia Zhang ◽  
Na An ◽  
Men Shen ◽  
Zhong-xia Huang ◽  
...  
Keyword(s):  
Multiple Myeloma ◽  
Clinical Characteristics ◽  
Median Overall Survival ◽  
Progression Free Survival ◽  
Clinical Analysis ◽  
Extramedullary Plasmacytoma ◽  
Disease Course ◽  
Combined Chemotherapy ◽  
Free Survival ◽  
Aggressive Disease

Objectives To investigate the clinical characteristics, survival and prognosis of patients with multiple myeloma (MM) and head extramedullary plasmacytoma (EMP). Methods Forty MM patients were enrolled in the study (18 men, 22 women; median age, 55 years). Results Median overall survival (OS) and progression-free survival (PFS) were 24 (5–78) months and 17 (2–36) months, respectively. The 2-, 3- and 5-year OS rates were 51%, 20% and 7%, respectively. The 2-year PFS was 15%. Median OS and PFS in patients administered velcade were 26 (18–50) and 22.5 (5–78) months, compared with 20 (10–30) and 13.5 (2–36) months in patients without velcade, respectively. Median OS was 23.5 (5–50) months in patients with EMP at MM diagnosis ( n = 25) and 36 (22–78) months in patients with head EMP diagnosed during the disease course ( n = 15). Sixteen MM patients had EMP invasion of the head only and 24 had invasion at multiple sites. Median OS was 25 (22–78) months in patients with EMP of the head only and 22 (5–78) months in patients with EMP invasion at multiple sites. Conclusion MM patients with head EMP show a more aggressive disease course and shorter OS and PFS. The prognosis of these patients is poor, especially in patients with head EMP at MM diagnosis, though combined chemotherapy and radiotherapy may prolong survival.

scholarly journals A case of Creutzfeldt-Jakob disease with E200K mutation presenting with hearing loss and central hypoventilation

2018 ◽  
Vol 58 (11) ◽  
pp. 673-676 ◽  
Author(s):  
Shinji Miyagawa ◽  
Taiji Mukai ◽  
Hiroshi Yaguchi
Keyword(s):  
Hearing Loss ◽  
E200k Mutation ◽  
Jakob Disease ◽  
Central Hypoventilation

Characteristics of multiple sclerosis in aboriginals living in British Columbia, Canada

2012 ◽  
Vol 18 (9) ◽  
pp. 1239-1243 ◽  
Author(s):  
Jameelah Saeedi ◽  
Peter Rieckmann ◽  
Irene Yee ◽  
Helen Tremlett ◽  
Keyword(s):  
Multiple Sclerosis ◽  
British Columbia ◽  
Clinical Characteristics ◽  
Age At Onset ◽  
Disease Onset ◽  
Patient Characteristics ◽  
Onset Date ◽  
Disease Course ◽  
Chi Squared ◽  
Student’S T

Objectives: The objectives of this study were to identify and describe the demographic and clinical characteristics of multiple sclerosis (MS) in aboriginals in British Columbia (BC), Canada and compare these findings with non-aboriginal MS patients. Methods: This retrospective chart and database review accessed patient information from the linked BC-wide MS clinical and genetics databases. Data gathered included: demographics (age, sex and ethnicity); clinical characteristics (MS onset date, disease course and disability scores (Expanded Disability Status Scale [EDSS]). Aboriginals were identified via the database linkage augmented by physician and nurse recall. Two non-aboriginal comparator groups with definite MS were selected. Group one included all definite MS patients in the BC MS database, and group two comprised MS patients matched by sex, age at onset and initial disease course. Patient characteristics were compared using the Student’s t-test, chi-squared test, and Kaplan–Meier survival analysis was used to examine disease progression (time to sustained and confirmed EDSS 6) Results: We identified 26 aboriginals with MS, of which 19/26 (73%) were female, 23/26 (89%) had relapsing-onset MS and a mean onset age of 31.1 years. There were no significant differences between the MS aboriginals and the non-matched ( n = 5708) comparator group with respect to age, sex or disease course ( p > 0.1), However, aboriginals progressed more rapidly to EDSS 6 from disease onset ( p < 0.001) when compared with the matched and unmatched comparator groups. Conclusion: We identified a small, but important cohort of aboriginals with MS; being the largest identified to date. There was evidence of more rapid MS progression in aboriginals compared with non-aboriginals.

scholarly journals The insomnia phenotype in genetic Creutzfeldt–Jakob disease based on the E200K mutation

Prion ◽  
2019 ◽  
Vol 13 (1) ◽  
pp. 77-82
Author(s):  
Eva Feketeova ◽  
Dominika Jarcuskova ◽  
Alzbeta Janakova ◽  
Marianna Vitkova ◽  
Jozef Dragasek ◽  
...  
Keyword(s):  
E200k Mutation ◽  
Jakob Disease

scholarly journals Eyelid Myokymia as a presumed manifestation of Coronavirus Disease 2019 (COVID-19)

2021 ◽  
Author(s):  
Hashim Ali Khan ◽  
Muhammad Aamir Shahzad ◽  
Junaid Iqbal ◽  
Sohail Abbas Juwa ◽  
Qaim Ali Khan ◽  
...  
Keyword(s):  
Complete Resolution ◽  
Recovery Time ◽  
Clinical Characteristics ◽  
Systemic Disease ◽  
Older Age ◽  
Strong Positive Correlation ◽  
Disease Course ◽  
Duration Of Hospitalization ◽  
Duration Of Disease ◽  
Effect Of Age

Abstract Purpose To report the eyelid myokymia in patients recovered from COVID-19 disease. Methods A cohort of 15 patients who developed eyelid myokymia during or immediate post-recovery of systemic disease were evaluated. Demographic, clinical characteristics, effect of age, and hospitalization on the disease course were studied. The disease course was evaluated every month for 3 months period. Results All, except 2, patients had complete resolution of lid myokymia within 3 months of onset. Mean ± SD myokymia recovery time was 44.1 ± 20.9 Days. Gender had no impact on the duration of disease. Age and duration of hospitalization had a strong positive correlation with myokymia recovery time (r = 0.8, p = 0.001 and r = 0.8, p = 0.01). Conclusion Eyelid myokymia may involve COVID-19 patients during or immediately after systemic recovery. While myokymia recovers gradually in all these patients; older age and longer duration of hospitalization are associated with slower recovery.

scholarly journals Clinical characteristics and genetic analyses of 187 patients with undefined autoinflammatory diseases

2019 ◽  
Vol 78 (10) ◽  
pp. 1405-1411 ◽  
Author(s):  
Nienke M Ter Haar ◽  
Charlotte Eijkelboom ◽  
Luca Cantarini ◽  
Riccardo Papa ◽  
Paul A Brogan ◽  
...  
Keyword(s):  
Genetic Variants ◽  
Clinical Characteristics ◽  
Disease Onset ◽  
Clinical Information ◽  
Large Cohort ◽  
Autoinflammatory Diseases ◽  
Disease Course ◽  
Intellectual Impairment ◽  
Web Based ◽  
Inflammatory Drugs

ObjectivesTo describe the clinical characteristics, treatment response and genetic findings in a large cohort of patients with undefined systemic autoinflammatory diseases (SAIDs).MethodsClinical and genetic data from patients with undefined SAIDs were extracted from the Eurofever registry, an international web-based registry that retrospectively collects clinical information on patients with autoinflammatory diseases.ResultsThis study included 187 patients. Seven patients had a chronic disease course, 180 patients had a recurrent disease course. The median age at disease onset was 4.3 years. Patients had a median of 12 episodes per year, with a median duration of 4 days. Most commonly reported symptoms were arthralgia (n=113), myalgia (n=86), abdominal pain (n=89), fatigue (n=111), malaise (n=104) and mucocutaneous manifestations (n=128). In 24 patients, relatives were affected as well. In 15 patients, genetic variants were found in autoinflammatory genes. Patients with genetic variants more often had affected relatives compared with patients without genetic variants (p=0.005). Most patients responded well to non-steroidal anti-inflammatory drugs (NSAIDs), corticosteroids, colchicine and anakinra. Complete remission was rarely achieved with NSAIDs alone. Notable patterns were found in patients with distinctive symptoms. Patients with pericarditis (n=11) were older at disease onset (33.8 years) and had fewer episodes per year (3.0/year) compared with other patients. Patients with an intellectual impairment (n=8) were younger at disease onset (2.2 years) and often had relatives affected (28.6%).ConclusionThis study describes the clinical characteristics of a large cohort of patients with undefined SAIDs. Among these, patients with pericarditis and intellectual impairment appear to comprise distinct subsets.

scholarly journals Linear morphea: Clinical characteristics, disease course, and treatment of the Morphea in Adults and Children cohort

2019 ◽  
Vol 80 (6) ◽  
pp. 1664-1670.e1 ◽  
Author(s):  
Elaine Kunzler ◽  
Stephanie Florez-Pollack ◽  
Noelle Teske ◽  
Jack O'Brien ◽  
Smriti Prasad ◽  
...  
Keyword(s):  
Clinical Characteristics ◽  
Disease Course ◽  
Adults And Children
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