... year-old woman who presented with progressive deafness, visual loss and ataxia. She latterly developed neuropsychiatric problems, including cognitive impairment, paranoid delusions and episodes of altered consciousness. She was found to be heterozygous for the Q212P mutation in the prion protein gene. She died over a decade after initial presentation and a diagnosis of priondisease was confirmed at postmortem.
Priondiseases are fatal neurodegenerative disorders with sporadic, genetic or acquired etiologies ... sporadic CJD (sCJD) n = 23, familial CJD (gCJD) n = 17, fatalfamilialinsomnia (FFI) n = 9, Gerstmann-Sträussler-Scheinker syndrome (GSS)) n = 4), patients with Alzheimer disease (AD, n ... be strongly up-regulated in the brain of all human priondiseases, with only a mild up-regulation in AD.
... neurosurgical instruments AbstractText: The association between surgery and sCJD remains uncertain. Measures currently recommended for preventing sCJD transmission should be strongly maintained. Future studies should focus on the potential association between sCJD and surgery undergone a long time previously Keyword: CJD. Keyword: Case-control studies. Keyword: Creutzfeldt-Jakob disease. Keyword: Neurosurgery. Keyword: Surgery. Keyword: Systematic review. Keyword: Transmissible spongiformencephalopathies.
Creutzfeldt-Jakob Syndrome (3), Prion Diseases (1), more mentions
Cerebrospinal fluid (CSF) contains a dynamic and complex mixture of proteins, which reflects physiologic or pathologic states of the central nervous system. Changes in CSF proteome have been described in various neurodegenerative disorders. Earliest publications came from the field of priondisease... This chapter summarizes the current knowledge of biomarker development in priondisease and discusses perspectives for new approaches.
... in CJD (HR=0.369; P=0.036) and copathology in MM1/MV1 CJD (HR=0.525; P=0.032) AbstractText: The existence of copathology significantly prolongs survival in patients with rapidly progressive dementia due to CJD. The study of major neurodegenerative-associated proteins in brains with CJD could allow us to further understand the molecular mechanisms behind priondiseases Keyword: brain. Keyword: immunohistochemistry.
... a pre-clinical event as demonstrated in experimental models of priondiseases and AD pathology... Additionally, increased YKL-40 levels were found in genetic priondiseases associated with the PRNP-D178N (FatalFamilialInsomnia) and PRNP-E200K mutations.Our results unequivocally demonstrate that in ... disease-specific marker of neuroinflammation showing its highest levels in priondiseases.
Neuroscience (5), Neurological and Central Nervous System Diseases (1), Sleep Disorders (1) Dementia (4), Prion Diseases (3), Alzheimer Disease (1), more mentions
PURPOSE: To evaluate Focal therapy (FT) by means of high-intensity focussed ultrasound (HIFU) hemiablation in a prospective trial.
MATERIALS AND METHODS: Prospective multicentre single arm study in patients with unilateral low/intermediate risk PC, treated from April 2013 through March 2016 in Germany (AUO study protocol AP 68/11). Unilateral PC was assessed by transrectal ultrasound (TRUS)-guided biopsy and multiparametric magnetic resonance imaging (mpMRI). Hemiablation was performed with the Ablatherm or Focal One device. Oncologic outcome was assessed by salvage-treatment rate, mpMRI and re-biopsy at 12 months. Functional outcome, quality of life (QOL), anxiety and depression by validated questionnaires at baseline and every three months.
RESULTS: 51 of 54 recruited patients completed ≥ 12 month visits. Mean follow-up was 17.4 ± 4.5 months. Mean PSA dropped from 6.2±2.0 ng/ml to 2.9±1.9 ng/ml at 12 months (p<0.001). Biopsy at 12 months was positive for any and for clinically significant (cs)PC in 13/49 (26.5%) and 4/49 (8.2%) patients, respectively. Posttreatment mpMRI demonstrated limited sensitivity (25%) for csPC. 10 (19.6%) patients underwent salvage treatment. Potency was maintained in 21 of 30 preoperatively potent men. There was no increase in incontinence. QOL, anxiety and depression were not changed postoperatively. The study is limited by short follow-up and lack of a control arm.
CONCLUSIONS: FT hemiablation is safe with little alterations of functional outcome. Oncologic outcome is acceptable on short term follow-up. Follow-up mpMRI performed poorly and should not replace repeat-biopsy. FT has no impact on post-treatment anxiety and depression.
OBJECTIVE: To investigate the incidence of retroperitoneal lymph node metastasis among patients with primary adult type granulosa cell tumor (AGCT) of the ovary.
STUDY DESIGN: Between January 1982 and February 2017, patients with a pathological diagnosis of AGCT were identified. Clinical and pathological data were obtained from database records.
RESULTS: A total of 151 patients with primary AGCT were identified with a mean age of 47.8 years (range, 17-91 years). 98 patients (64.9%) had stage IA, 24 (15.9%) had stage IC, 4 (2.6%) had stage IIB, 2 (1.3%) had stage IIIB, 6 (4.0%) had stage IIIC disease according to International Federation of Gynecology and Obstetrics (FIGO) 1988 criteria. In the remaining 17 patients (11.3%), primary stage was not detected. In 134 (88.7%) patients, pelvic and para-aortic lymphadenectomy was performed at primary staging surgery depending on the frozen section analysis or at re-staging surgery following initial diagnosis. In these patients, six (4.5%) of them had pelvic or paraaortic lymph node metastasis. The median number of lymph nodes removed was 43 (range, 10-96 lymph nodes).
CONCLUSION: Lymph node metastasis in initially staged AGCT is rare. Routine pelvic and paraaortic lymph node dissection may be omitted in these patients.
Oncology (5) Granulosa Cell Tumor (2), Neoplasms (1), more mentions
It is now also relatively clear that Mn is involved in the pathogenesis of Alzheimer's disease and at least some priondiseases. The potential involvement of Mn in a panel of other neurodegenerative conditions including Parkinson's disease, Huntington's disease, amyotrophic lateral sclerosis, and Batten disease has been suggested and investigated, but the results to date are somewhat inconclusive.
Neurological and Central Nervous System Diseases (6), Neuroscience (1) Amyotrophic Lateral Sclerosis (2), Parkinson Disease (2), Huntington Disease (2), more mentions
Conformational conversion of the cellular prion protein, PrP(C), into the abnormally folded isoform of prion protein, PrP(Sc), which leads to marked accumulation of PrP(Sc) in brains, is a key pathogenic event in priondiseases, a group of fatal neurodegenerative disorders caused by prions. However, the exact mechanism of PrP(Sc) accumulation in prion-infected neurons remains unknown.
Prion Diseases (1), Neurodegenerative Diseases (1), more mentions
Cellular prion protein (PrP(C)), the infective agent of transmissible spongiformencephalopathies, is thought to be related to several cellular physiological and physiopathological processes... salient ligand molecule of PrP for participating in internalization and propagation of the scrapie form of prion protein (PrP(Sc)), 37 kDa laminin receptor precursor protein (37LRP ...
Oncology (10) Stomach Neoplasms (10), Prion Diseases (1), more mentions
... last two decades, a large body of evidence has reported the role of copper, zinc and iron, and oxidative stress in several neurodegenerative diseases like Alzheimer's, Parkinson's, priondiseases, etc. To what extent this mis-metabolism is causative or a consequence of these diseases is still a matter of research.
Neurological and Central Nervous System Diseases (1) Neurodegenerative Diseases (2), Prion Diseases (1), Alzheimer Disease (1), more mentions
These diseases are characterized by neuronal death and include several different pathologies, such as Alzheimer's disease, Parkinson's disease, multiple sclerosis, Huntington's disease and transmissible spongiformencephalopathies. Most of these pathologies are often associated with the aggregation of misfolded proteins, such as amyloid-ß, tau, α-synuclein, huntingtin and prion proteins.
Neurological and Central Nervous System Diseases (2), Neuroscience (1), Immune System Diseases (1) Neurodegenerative Diseases (3), Multiple Sclerosis (1), Prion Diseases (1), more mentions
After several low molecular weight bands of prion protein appeared in SMB-S15 cells infected with scrapie agent Chandler, we think that IRES-dependent translation mechanism induced by prion is involved in the formation of prion protein bands. Then we designed a series of pPrP-GFP fusing plasmids and bicistronic plasmids to identify the IRES sites of prion protein gene ...