Spinocerebellar ataxia type 10: common haplotype and disease progression rate in Peru and Brazil

2017 ◽  
Vol 24 (7) ◽  
pp. 892-e36 ◽  
Author(s):  
T. C. Gheno ◽  
G. V. Furtado ◽  
J. A. M. Saute ◽  
K. C. Donis ◽  
A. M. V. Fontanari ◽  
...  
Keyword(s):  
Disease Progression ◽  
Spinocerebellar Ataxia ◽  
Spinocerebellar Ataxia Type ◽  
Progression Rate ◽  
Common Haplotype ◽  
Disease Progression Rate

scholarly journals Influence of publication year, add-on design, and geographical region on the progression of Alzheimer’s disease: a modeling analysis of literature aggregate data

2020 ◽  
Author(s):  
ningyuan zhang ◽  
Xijun Zheng ◽  
Hongxia Liu ◽  
Qingshan Zheng ◽  
Lujin Li
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Disease Progression ◽  
Disease Assessment ◽  
Progression Rate ◽  
Progression Model ◽  
Geographical Regions ◽  
Significant Difference ◽  
Disease Progression Rate ◽  
Disease Progression Model

Abstract Background Our objective was to develop a disease progression model for cognitive decline in Alzheimer’s disease (AD) and to determine whether disease progression of AD is related to the year of publication, add-on trial design, and geographical regions. Methods Placebo-controlled randomized AD clinical trials were systemically searched in public databases. Longitudinal placebo response (mean change from baseline in the cognitive subscale of the Alzheimer’s Disease Assessment Scale [ADAS-cog]) and the corresponding demographic information were extracted to establish a disease progression model. Covariate screening and subgroup analyses were performed to identify potential factors affecting the disease progression rate. Results A total of 142 publications (148 trials) were included in this model-based meta-analysis. The typical disease progression rate was 5.82 points per year. The baseline ADAS-cog score was included in the final model using an inverse-U type function. Age was found to be negatively correlated with disease progression rate. After correcting the baseline ADAS-cog score and the age effect, no significant difference in disease progression rate was found between trials published before and after 2008, and between trials using add-on design and those that did not use add-on design. However, a significant difference was found among different trial regions. Trials in East Asian countries showed the slowest decline rate and the largest placebo effect. Conclusions Our model successfully quantified AD disease progression by integrating baseline ADAS-cog score and age as important predictors. These factors and geographic location should be considered when optimizing future trial designs and conducting indirect comparisons of clinical outcomes.

scholarly journals Genotype-phenotype correlations, dystonia and disease progression in spinocerebellar ataxia type 14

2018 ◽  
Vol 33 (7) ◽  
pp. 1119-1129 ◽  
Author(s):  
Viorica Chelban ◽  
Sarah Wiethoff ◽  
Bjørn K. Fabian-Jessing ◽  
Nourelhoda A. Haridy ◽  
Alaa Khan ◽  
...  
Keyword(s):  
Disease Progression ◽  
Spinocerebellar Ataxia ◽  
Spinocerebellar Ataxia Type ◽  
Spinocerebellar Ataxia Type 14

scholarly journals ALS patients’ regulatory T lymphocytes are dysfunctional, and correlate with disease progression rate and severity

JCI Insight ◽  
2017 ◽  
Vol 2 (5) ◽  
Author(s):  
David R. Beers ◽  
Weihua Zhao ◽  
Jinghong Wang ◽  
Xiujun Zhang ◽  
Shixiang Wen ◽  
...  
Keyword(s):  
T Lymphocytes ◽  
Disease Progression ◽  
Progression Rate ◽  
Regulatory T Lymphocytes ◽  
Disease Progression Rate ◽  
Als Patients

Comparison of elevated phosphorylated neurofilament heavy chains in serum and cerebrospinal fluid of patients with amyotrophic lateral sclerosis

2017 ◽  
Vol 89 (4) ◽  
pp. 367-373 ◽  
Author(s):  
Maxim De Schaepdryver ◽  
Andreas Jeromin ◽  
Benjamin Gille ◽  
Kristl G Claeys ◽  
Victor Herbst ◽  
...  
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Cerebrospinal Fluid ◽  
Motor Neuron ◽  
Disease Progression ◽  
Roc Curves ◽  
Symptom Duration ◽  
Progression Rate ◽  
Alternative Source ◽  
Disease Progression Rate ◽  
Lateral Sclerosis

ObjectivePhosphorylated neurofilament heavy chain (pNfH) levels are elevated in cerebrospinal fluid (CSF) of patients with amyotrophic lateral sclerosis (ALS). Instead of CSF, we explored blood as an alternative source to measure pNfH in patients with ALS.MethodsIn this single centre retrospective study, 85 patients with ALS, 215 disease controls (DC) and 31 ALS mimics were included. Individual serum pNfH concentrations were correlated with concentrations in CSF and with several clinical parameters. The performance characteristics of pNfH in CSF and serum of patients with ALS and controls were calculated and compared using receiver operating characteristic (ROC) curves.ResultsCSF and serum pNfH concentrations in patients with ALS correlated well (r=0.652, p<0.0001) and were significantly increased compared with DC (p<0.0001) and ALS mimics (p<0.0001). CSF pNfH outperformed serum pNfH in discriminating patients with ALS from DC and ALS mimics (difference between area under the ROC curves: p=0.0001 and p=0.0005; respectively). Serum pNfH correlated inversely with symptom duration (r=−0.315, p=0.0033). CSF and serum pNfH were lower when the disease progression rate was slower (r=0.279, p<0.01 and r=0.289, p<0.01; respectively). Unlike CSF, serum pNfH did not correlate with the burden of clinical and electromyographic motor neuron dysfunction.ConclusionsCSF and serum pNfH concentrations are elevated in patients with ALS and correlate with the disease progression rate. Moreover, CSF pNfH correlates with the burden of motor neuron dysfunction. Our findings encourage further pursuit of CSF and serum pNfH concentrations in the diagnostic pathway of patients suspected to have ALS.

POD-09.08: The predictive role of the re-TURB in the evaluation of high-grade disease progression rate of T1G3 bladder neoplasm

Urology ◽  
2007 ◽  
Vol 70 (3) ◽  
pp. 30-31
Author(s):  
R. Giulianelli ◽  
S. Brunori ◽  
B.C. Gentile ◽  
G. Vincenti ◽  
F. Pisanti ◽  
...  
Keyword(s):  
Disease Progression ◽  
Bladder Neoplasm ◽  
Progression Rate ◽  
High Grade ◽  
Disease Progression Rate ◽  
Predictive Role

scholarly journals A native interactor scaffolds and stabilizes toxic ATAXIN-1 oligomers in SCA1

eLife ◽  
2015 ◽  
Vol 4 ◽  
Author(s):  
Cristian A Lasagna-Reeves ◽  
Maxime WC Rousseaux ◽  
Marcos J Guerrero-Muñoz ◽  
Jeehye Park ◽  
Paymaan Jafar-Nejad ◽  
...  
Keyword(s):  
Parkinson Disease ◽  
Disease Progression ◽  
Spinocerebellar Ataxia ◽  
Clinical Presentation ◽  
Brain Regions ◽  
Spinocerebellar Ataxia Type ◽  
Oligomeric Structure ◽  
Spinocerebellar Ataxia Type 1 ◽  
Regional Vulnerability

Recent studies indicate that soluble oligomers drive pathogenesis in several neurodegenerative proteinopathies, including Alzheimer and Parkinson disease. Curiously, the same conformational antibody recognizes different disease-related oligomers, despite the variations in clinical presentation and brain regions affected, suggesting that the oligomer structure might be responsible for toxicity. We investigated whether polyglutamine-expanded ATAXIN-1, the protein that underlies spinocerebellar ataxia type 1, forms toxic oligomers and, if so, what underlies their toxicity. We found that mutant ATXN1 does form oligomers and that oligomer levels correlate with disease progression in the Atxn1154Q/+ mice. Moreover, oligomeric toxicity, stabilization and seeding require interaction with Capicua, which is expressed at greater ratios with respect to ATXN1 in the cerebellum than in less vulnerable brain regions. Thus, specific interactors, not merely oligomeric structure, drive pathogenesis and contribute to regional vulnerability. Identifying interactors that stabilize toxic oligomeric complexes could answer longstanding questions about the pathogenesis of other proteinopathies.

scholarly journals The Incidence and Severity of Downy Mildew Disease on Local Madurese Maize Crops in Sumenep district, East Java, Indonesia

Agrologia ◽  
2021 ◽  
Vol 10 (1) ◽  
Author(s):  
Syaiful Khoiri ◽  
Abdiatun Abdiatun ◽  
Khairatul Muhlisa ◽  
Achmad Amzeri ◽  
Dita Megasari
Keyword(s):  
Disease Progression ◽  
Downy Mildew ◽  
Disease Severity ◽  
Sampling Method ◽  
Plant Sample ◽  
Progression Rate ◽  
Plant Pests ◽  
Local Cultivars ◽  
Disease Progression Rate ◽  
Downy Mildew Disease

In Madura island, corn is the main commodity that is widely planted with an area of 301,725 ha or about 30% of the area of maize in East Java. Madura Island has local cultivars, such as: Tambin, Talango, Guluk-guluk, Manding, and Kretek. Efforts to increase production are continuously being made, starting from improving varieties until managing plant pests. One of the main diseases in maize is downy mildew. However, information about the incidence, incidence, severity, and species that cause downy mildew in local cultivars has not been reported. So, this study aims to identify the causes of downy mildew in local cultivars of Madura and disease severity in the field. The research method is a survey on local maize centers. Sampling was done by using the diagonal sampling method. Each plant sample was observed for symptoms of disease and scoring to calculate the value of disease severity. Fungi identification was carried out by microscopic observation of the fungus. The results showed that the cause of downy mildew in Madura local maize in Sumenep Regency was P. maydis. The highest incidence, disease severity, and AUDPC value after 4 MST were found in Guluk-guluk cultivars in Padangdangan Village, but had the lowest disease progression rate values. Meanwhile, the highest rate of disease progression was found in the Manding cultivar in Mandala Village. Based on the resistance category, Talango cultivar had the best resistance when compared to other cultiva.Keywords: AUDPC, downy mildew, disease progress, Madurese maize, Peronosclerospora maydis

Sign in / Sign up

Export Citation Format

Share Document