keyword
MENU ▼
Read by QxMD icon Read
search

Cjd

keyword
https://www.readbyqxmd.com/read/29666711/creutzfeldt-jakob-disease-presenting-as-expressive-aphasia-and-nonconvulsive-status-epilepticus
#1
Hafiz B Mahboob, Kazi H Kaokaf, Jeremy M Gonda
Creutzfeldt-Jakob disease (CJD), the most common form of human prion diseases, is a fatal condition with a mortality rate reaching 85% within one year of clinical presentation. CJD is characterized by rapidly progressive neurological deterioration in combination with typical electroencephalography (EEG) and magnetic resonance imaging (MRI) findings and positive cerebrospinal spinal fluid (CSF) analysis for 14-3-3 proteins. Unfortunately, CJD can have atypical clinical and radiological presentation in approximately 10% of cases, thus making the diagnosis often challenging...
2018: Case Reports in Critical Care
https://www.readbyqxmd.com/read/29569252/the-clinical-features-in-chinese-patients-with-prnp-d178n-mutation
#2
S Chen, S He, X-H Shi, X-J Shen, K-K Liang, J-H Zhao, B-C Yan, J-W Zhang
BACKGROUND AND PURPOSE: Fatal familial insomnia (FFI) is an autosomal dominant disease due to the D178N mutation of PRNP gene coupling with homozygous methionine (Met) at codon 129. It is generally considered that D178N mutation cases with 129 M/M homozygotes present as FFI, and 129 V/V as genetic CJD. However, the frequency of 129 Met alleles in Chinese population is much higher than that in Caucasians. This study aims to investigate the clinical features and genetic characteristics of Chinese D178N mutants in this genetic context...
March 22, 2018: Acta Neurologica Scandinavica
https://www.readbyqxmd.com/read/29561424/nonopportunistic-infection-leading-to-rapidly-progressive-dementia-in-a-patient-with-hiv-aids-a-case-report
#3
Johannes Eimer, Jan Vesterbacka, Irina Savitcheva, Rayomand Press, Homayoun Roshanisefat, Piotr Nowak
RATIONALE: Cognitive dysfunction is a common presenting symptom in patients with HIV/AIDS. It is usually directly associated with HIV infection or due to opportunistic infection. Rapidly progressive dementia, however, is rarely observed in acute HIV infection or during immune reconstitution. Recently, a case of Creutzfeld-Jakob disease (CJD) has been reported in a patient with chronic HIV infection. The incidence of CJD is not known to be increased among immunocompromised patients. PATIENT CONCERNS: We here report the case of a 59-year-old male patient with a recent diagnosis of HIV/AIDS and Pneumocystis jiroveci pneumonia presenting with secondary behavioral changes and disorientation...
March 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29530742/reducing-the-risk-of-iatrogenic-cjd-by-improving-the-cleaning-of-neurosurgical-instruments
#4
Andrew Smith, Sandra Winter, David Lappin, Andrea Sherriff, Ian McIvor, Pamela Philp, Nigel Suttner, Sulisti Holmes, Alan Stewart
BACKGROUND: Currently UK vCJD cases total 178, with an estimated maximum 1:2,000 carriage rate based on archived appendix and tonsil tissue, implying infection maybe rare but carriage relatively common. Previous workers have identified that maintenance of surgical instruments in a humid atmosphere after use and prior to cleaning assists cleaning efficacy. Relatively recently the Department of Health/Advisory Committee on Dangerous Pathogens UK have recommended a surgical instrument cleanliness threshold post cleaning of <5μg protein per instrument side...
March 9, 2018: Journal of Hospital Infection
https://www.readbyqxmd.com/read/29525731/atypical-presentation-of-probable-creutzfeldt-jakob-disease-associated-with-anti-zic4-antibody-literature-review-of-neuronal-antibodies-in-creutzfeldt-jakob-disease
#5
Richard Salazar
INTRODUCTION: Sporadic Creutzfeldt-Jakob disease is a prion disease characterized by rapidly progressive dementia, ataxia and myoclonus. Atypical phenotype masquerading as stroke, movement disorders or autoimmune encephalitis have been described. Here, I report a probable case of sCJD with an atypical presentation associated with anti-Zic4 antibody and review the literature of neuronal antibodies in CJD. CASE REPORT: A 70 year-old gentleman is admitted with a 2-month history of recurrent stroke-like symptoms associated with behavioral disturbances, gait ataxia and rapidly progressive dementia...
May 2018: Clinical Neurology and Neurosurgery
https://www.readbyqxmd.com/read/29518068/update-dura-mater-graft-associated-creutzfeldt-jakob-disease-japan-1975-2017
#6
Ryusuke Ae, Tsuyoshi Hamaguchi, Yosikazu Nakamura, Masahito Yamada, Tadashi Tsukamoto, Hidehiro Mizusawa, Ermias D Belay, Lawrence B Schonberger
Creutzfeldt-Jakob disease (CJD) is a fatal neurodegenerative disorder that, according to the most well accepted hypothesis (1), is caused by replicating, transmissible, abnormal forms of a host-encoded prion protein (prions). Most CJD cases occur spontaneously (sporadic CJD) or are inherited (genetic CJD). Iatrogenic CJD can occur after exposure to prion-contaminated instruments or products in medical/surgical settings. Cadaveric dura mater graft-associated CJD (dCJD) accounts for a common form of iatrogenic CJD...
March 9, 2018: MMWR. Morbidity and Mortality Weekly Report
https://www.readbyqxmd.com/read/29515622/high-incidence-of-sporadic-creutzfeldt-jakob-disease-in-slovenia-in-2015-a-case-series
#7
Tomaž Rus, Bogdan Lorber, Maja Trošt, Srečko Dobrecovič, Nuška Čakš Jager, Mara Popović, Milica G Kramberger
Background: Creutzfeldt-Jakob disease (CJD) is a rare fatal neurodegenerative disorder presenting with rapid cognitive decline and additional signs. The clinical characteristics of an increasing number of sporadic CJD (sCJD) patients admitted to the Ljubljana University Medical Centre are presented as well as the incidence of sCJD in Slovenia in 2015 compared to previous years. Methods: We investigated patients presenting with rapidly progressive dementia and at least one additional sign...
January 2018: Dementia and Geriatric Cognitive Disorders Extra
https://www.readbyqxmd.com/read/29509064/a-chinese-patient-of-p102l-gerstmann-str%C3%A3-ussler-scheinker-disease-contains-three-other-disease-associated-mutations-in-syne1
#8
Jing Wang, Kang Xiao, Wei Zhou, Chen Gao, Cao Chen, Qi Shi, Xiao-Ping Dong
Gerstmann-Sträussler-Scheinker disease (GSS) with the P102L mutation in PRNP gene is characterized with progressive cerebellar dysfunction clinically and PrPSc plaques neurologically. Due to the cerebellar ataxia in the early stage, GSS P102L is often misdiagnosed as other neurodegenerative disorders. We presented here a 49-year-old female patient with proven P102L PRNP mutation, and three heterologous mutations in hereditary ataxias associated gene SYNE1, including p.V3643L, p.M3376V and p.T2860A. The patient appeared progressive unsteady gait in early stage and developed the Creutzfeldt-Jacob disease (CJD) - associated clinical manifestations, including progressive dementia, myoclonus, pyramidal and extrapyramidal signs...
March 6, 2018: Prion
https://www.readbyqxmd.com/read/29436943/heterozygous-genotype-at-codon-129-correlates-with-prolonged-disease-course-in-heidenhain-variant-sporadic-cjd-case-report
#9
Ryan A Townley, Elliot T Dawson, Daniel A Drubach
Sporadic Creutzfeldt-Jakob disease (sCJD) is a rapid and fatal neurodegenerative disease defined by misfolded prion proteins accumulating in the brain. A minority of cases initially present with posterior cortical atrophy (PCA) phenotype, also known as Heidenhain variant or visual variant CJD. This case provides further evidence of sCJD presenting as PCA. The case also provides evidence for early DWI changes and cortical atrophy over 30 months before neurologic decline and subsequent death. The prolonged disease course correlates with prion protein codon 129 heterozygosity and coexistence of multiple prion strains...
February 2018: Neurocase
https://www.readbyqxmd.com/read/29429784/rapid-progressive-visual-decline-and-visual-field-defects-in-two-patients-with-the-heidenhain-variant-of-creutzfeld-jakob-disease
#10
Janine Lenk, Kay Engellandt, Naim Terai, Antonia Bottesi, Egbert Matthé
BACKGROUND: Heidenhain variant of Creutzfeldt-Jakob (HvCJD) is a rare disease, patients presenting with loss of visual acuity and a decline in visual fields. CASE PRESENTATION: Two patients with rapid loss of visual acuity and declining visual fields presented with homonymic hemianopsia over several weeks. Cranial MRI showed neither stroke nor other morphological changes explaining the severe visual field defects. Neurological examination revealed no pathologies...
April 2018: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/29422367/csf-tau-supplements-14-3-3-protein-detection-for-sporadic-creutzfeldt-jakob-disease-diagnosis-while-transitioning-to-next-generation-diagnostics
#11
Qiao-Xin Li, Shiji Varghese, Shannon Sarros, Christiane Stehmann, James D Doecke, Christopher J Fowler, Colin L Masters, Steven J Collins
The pre-mortem clinical diagnosis of Creutzfeldt-Jakob disease (CJD) is supported by biomarkers, especially cerebrospinal fluid (CSF) 14-3-3 and total tau (Tau) protein levels. These CSF biomarkers have proven the most useful prior to transitioning to powerful next generation diagnostics employing protein amplification techniques such as the real time quaking-induced conversion (RT-QuIC) assay. To enhance national diagnostic capacity while transitioning to RT-QuIC assays an optimized CSF Tau cutoff was determined and shown to usefully supplement 14-3-3 protein detection...
February 5, 2018: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/29399090/report-and-literature-review-on-two-cases-with-different-kinds-of-creutzfeldt-jakob-disease
#12
Chunhua Tang, Changyue Gao
Creutzfeldt-Jakob disease (CJD), also known as corticostriate spinal degeneration, subacute spongiform encephalopathy or infectious spongiform encephalopathy, is a type of degenerative disease of the central nervous system caused by prion protein (PrP) infection, which is the most common type of human PrP disease. CJD is genetic and infectious, and is one of the most common causes of rapid progressive dementia with rare clinical occurrence. Herein, we report the clinical conditions of 2 cases of patients with different type of CJD we treated and followed up recently, and a review of relevant literature...
January 2018: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/29391125/cerebrospinal-fluid-neurofilament-light-levels-in-neurodegenerative-dementia-evaluation-of-diagnostic-accuracy-in-the-differential-diagnosis-of-prion-diseases
#13
Inga Zerr, Matthias Schmitz, André Karch, Anna Villar-Piqué, Eirini Kanata, Ewa Golanska, Daniela Díaz-Lucena, Aikaterini Karsanidou, Peter Hermann, Tobias Knipper, Stefan Goebel, Daniela Varges, Theodoros Sklaviadis, Beata Sikorska, Pawel P Liberski, Isabel Santana, Isidro Ferrer, Henrik Zetterberg, Kaj Blennow, Olga Calero, Miguel Calero, Anna Ladogana, Raquel Sánchez-Valle, Inês Baldeiras, Franc Llorens
INTRODUCTION: Neurofilament light (NFL) levels in the cerebrospinal fluid are increased in several neurodegenerative dementias. However, their diagnostic accuracy in the differential diagnostic context is unknown. METHODS: Cerebrospinal fluid NFL levels were quantified in nonprimarily neurodegenerative neurological and psychiatric diseases (n = 122), mild cognitive impairment (n = 48), Alzheimer's disease (n = 108), dementia with Lewy bodies/Parkinson's disease dementia (n = 53), vascular dementia (n = 46), frontotemporal dementia (n = 41), sporadic Creutzfeldt-Jakob disease (sCJD, n = 132), and genetic prion diseases (n = 182)...
January 29, 2018: Alzheimer's & Dementia: the Journal of the Alzheimer's Association
https://www.readbyqxmd.com/read/29368621/the-csf-neurofilament-light-signature-in-rapidly-progressive-neurodegenerative-dementias
#14
Samir Abu-Rumeileh, Sabina Capellari, Michelangelo Stanzani-Maserati, Barbara Polischi, Paolo Martinelli, Paola Caroppo, Anna Ladogana, Piero Parchi
BACKGROUND: Neurofilament light chain protein (NfL) is a surrogate biomarker of neurodegeneration that has never been systematically tested, either alone or in combination with other biomarkers, in atypical/rapidly progressive neurodegenerative dementias (NDs). METHODS: Using validated, commercially available enzyme-linked immunosorbent assay kits, we measured cerebrospinal fluid (CSF) NfL, total tau (t-tau), phosphorylated tau, and β-amyloid 42 in subjects with a neuropathological or clinical diagnosis of prion disease (n = 141), Alzheimer's disease (AD) (n = 73), dementia with Lewy bodies (DLB) (n = 35), or frontotemporal lobar degeneration (FTLD) (n = 44)...
January 11, 2018: Alzheimer's Research & Therapy
https://www.readbyqxmd.com/read/29359329/creutzfeldt-jakob-disease-and-blood-transfusion-safety
#15
REVIEW
C R Seed, P E Hewitt, R Y Dodd, F Houston, L Cervenakova
Transmissible spongiform encephalopathies (TSEs) are untreatable, fatal neurologic diseases affecting mammals. Human disease forms include sporadic, familial and acquired Creutzfeldt-Jakob disease (CJD). While sporadic CJD (sCJD) has been recognized for near on 100 years, variant CJD (vCJD) was first reported in 1996 and is the result of food-borne transmission of the prion of bovine spongiform encephalopathy (BSE, 'mad cow disease'). Currently, 230 vCJD cases have been reported in 12 countries, the majority in the UK (178) and France (27)...
April 2018: Vox Sanguinis
https://www.readbyqxmd.com/read/29329906/development-of-a-quick-bioassay-for-the-evaluation-of-transmission-properties-of-acquired-prion-diseases
#16
Yoshiko Munesue, Taishi Shimazaki, Zechen Qi, Norikazu Isoda, Hirofumi Sawa, Keisuke Aoshima, Takashi Kimura, Shirou Mohri, Tetsuyuki Kitamoto, Atsushi Kobayashi
Evaluation of transmission properties is important for the differential diagnosis of a subgroup of acquired Creutzfeldt-Jakob disease (CJD) with methionine homozygosity at polymorphic codon 129 of the PRNP gene, an intermediate type abnormal prion protein (PrP), and kuru plaques, denoted as acquired CJD-MMiK. The present study aimed to develop a quick evaluation system of the transmission properties of acquired CJD-MMiK. In the PrP-humanized mice intraperitoneally inoculated with brain homogenates from an acquired CJD-MMiK patient, accumulation of abnormal PrP was observed in follicular dendritic cells of the spleen at 75 days post-inoculation...
March 6, 2018: Neuroscience Letters
https://www.readbyqxmd.com/read/29326035/myoclonus-in-the-elderly-a-retrospective-analysis-of-clinical-and-electrophysiological-characteristics-of-patients-referred-to-an-electrophysiology-laboratory
#17
Meral E Kiziltan, Aysegul Gunduz, Melih Tutuncu, Sibel Ertan, Hulya Apaydin, Gunes Kiziltan
BACKGROUND AND OBJECTIVE: Late-onset myoclonus in the elderly is mainly related to dementia or systemic disease. In this report, we aimed to investigate the clinical and electrophysiological features of patients with late-onset myoclonus. PATIENTS AND METHOD: We retrospectively assessed the medical records of patients who were referred to our electromyography laboratory. From these records, we included all patients who had myoclonus which started after the age of 60 years and in whom it was confirmed by polymyography...
April 2018: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/29322248/a-reversible-liquid-drop-aggregation-controls-glucose-response-in-yeast
#18
REVIEW
Kobi Simpson-Lavy, Martin Kupiec
Glucose is the preferred carbon of the yeast Saccharomyces cerevisiae. Depletion of glucose activates SNF1 (yeast AMP-activated protein kinase-AMPK), allowing cells to switch from fermentation to respiration. We have recently characterized the mechanism by which SNF1 activity is regulated by the Std1 protein, and its regulator Sip5. The hitherto uncharacterized protein kinase Vhs1 phosphorylates Sip5 in response to glucose availability, disengaging it from Std1 and promoting the sequestering of the SNF1 activator out of the nucleus into cytoplasmic puncta...
January 10, 2018: Current Genetics
https://www.readbyqxmd.com/read/29310723/iatrogenic-creutzfeldt-jakob-disease-with-amyloid-%C3%AE-pathology-an-international-study
#19
Ignazio Cali, Mark L Cohen, Stéphane Haїk, Piero Parchi, Giorgio Giaccone, Steven J Collins, Diane Kofskey, Han Wang, Catriona A McLean, Jean-Philippe Brandel, Nicolas Privat, Véronique Sazdovitch, Charles Duyckaerts, Tetsuyuki Kitamoto, Ermias D Belay, Ryan A Maddox, Fabrizio Tagliavini, Maurizio Pocchiari, Ellen Leschek, Brian S Appleby, Jiri G Safar, Lawrence B Schonberger, Pierluigi Gambetti
The presence of pathology related to the deposition of amyloid-β (Aβ) has been recently reported in iatrogenic Creutzfeldt-Jakob disease (iCJD) acquired from inoculation of growth hormone (GH) extracted from human cadaveric pituitary gland or use of cadaveric dura mater (DM) grafts.To investigate this phenomenon further, a cohort of 27 iCJD cases - 21 with adequate number of histopathological sections - originating from Australia, France, Italy, and the Unites States, were examined by immunohistochemistry, amyloid staining, and Western blot analysis of the scrapie prion protein (PrPSc ), and compared with age-group matched cases of sporadic CJD (sCJD), Alzheimer disease (AD) or free of neurodegenerative diseases (non-ND)...
January 8, 2018: Acta Neuropathologica Communications
https://www.readbyqxmd.com/read/29249654/the-std1-activator-of-the-snf1-ampk-kinase-controls-glucose-response-in-yeast-by-a-regulated-protein-aggregation
#20
Kobi Simpson-Lavy, Tianchang Xu, Mark Johnston, Martin Kupiec
The ability to respond to available nutrients is critical for all living cells. The AMP-activated protein kinase (SNF1 in yeast) is a central regulator of metabolism that is activated when energy is depleted. We found that SNF1 activity in the nucleus is regulated by controlled relocalization of the SNF1 activator Std1 into puncta. This process is regulated by glucose through the activity of the previously uncharacterized protein kinase Vhs1 and its substrate Sip5, a protein of hitherto unknown function. Phosphorylation of Sip5 prevents its association with Std1 and triggers Std1 accretion...
December 21, 2017: Molecular Cell
keyword
keyword
52656
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"