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//doi.org/10.17605/OSF.IO/7UDM2.Neurological long-term sequelae are increasingly considered an important challenge in the recent COVID-19 pandemic. However, most evidence for neurological symptoms after SARS-CoV-2 infection and central nervous system invasion of the virus stems from individuals severely affected in the acute phase of the disease. Here, we report long-lasting cognitive impairment along with persistent cerebrospinal fluid anti-SARS-CoV-2 antibodies in a female patient with unremarkable standard examination 6 months after mild COVID-19, supporting the implementation of neuropsychological testing and specific cerebrospinal fluid investigation also in patients with a relatively mild acute disease phase.
Parkinson's disease (PD) is a neurodegenerative movement disorder affecting 1-5% of the general population for which neither effective cure nor early diagnostic tools are available that could tackle the pathology in the early phase. Selleck Autophinib Here we report a multi-stage procedure to identify candidate genes likely involved in the etiopathogenesis of PD.
The study includes a discovery stage based on the analysis of whole exome data from 26 dominant late onset PD families, a validation analysis performed on 1542 independent PD patients and 706 controls from different cohorts and the assessment of polygenic variants load in the Italian cohort (394 unrelated patients and 203 controls).
Family-based approach identified 28 disrupting variants in 26 candidate genes for PD including PARK2, PINK1, DJ-1(PARK7), LRRK2, HTRA2, FBXO7, EIF4G1, DNAJC6, DNAJC13, SNCAIP, AIMP2, CHMP1A, GIPC1, HMOX2, HSPA8, IMMT, KIF21B, KIF24, MAN2C1, RHOT2, SLC25A39, SPTBN1, TMEM175, TOMM22, TVP23A and ZSCAN21. Sixteen of them have not been assof the disease and may be relevant for its prediction, diagnosis and treatment.
Besides confirming the extreme genetic heterogeneity of PD, these data provide novel insights into the genetic of the disease and may be relevant for its prediction, diagnosis and treatment.
Separately, mental and musculoskeletal disorders (MSDs) are prevalent across the life course and are leading contributors to disability worldwide. While people with personality disorder (PD) have been shown to have an increased risk of certain physical health comorbidities-associations with MSDs have not been thoroughly explored. The proposed scoping review aims to explore the existing clinical- and population-based literature on the comorbidity of PD and MSDs among adults ≥ 18 years and the burden associated with their comorbidity, identify knowledge gaps on this topic, and propose recommendations for future research.
This protocol describes the methodology to undertake the scoping review. It is guided by Arksey and O'Malley's framework and the extensions recommended by the Joanna Briggs Institute. A comprehensive search strategy will be used to identify relevant articles, which will be underpinned by Population, Concept, and Context (PCC) inclusion criteria. One author will perform the search and two authors will independently screen titles/abstracts followed by a full-text review for articles considered relevant. The supervising author will confirm the final selection of articles to be included. One author will extract relevant information from the articles using a predetermined charting form, while a second will perform validation of all information entered.
Information will be synthesised to inform a discussion of what is known regarding associations between PD and MSDs, and the burden associated with their comorbidity in different contexts, with future research directions proposed.
This protocol is registered in Open Science Framework Registries ( https//osf.io/mxbr2/ ).
This protocol is registered in Open Science Framework Registries ( https//osf.io/mxbr2/ ).
Accumulation of alpha-synuclein (α-syn) is a main pathological hallmark of Parkinson's and related diseases, which are collectively known as synucleinopathies. Growing evidence has supported that the same protein can induce remarkably distinct pathological progresses and disease phenotypes, suggesting the existence of strain difference among α-syn fibrils. Previous studies have shown that α-syn pathology can propagate from the peripheral nervous system (PNS) to thecentral nervous system (CNS) in a "prion-like" manner. However, the difference of the propagation potency from the periphery to CNS among different α-syn strains remains unknown and the effect of different generation processes of these strains on the potency of seeding and propagation remains to be revealed in more detail.
Three strains of preformed α-syn fibrils (PFFs) were generated in different buffer conditions which varied in pH and ionic concentrations. The α-syn PFFs were intramuscularly (IM) injected into a novel bacterial artificial chrong synucleinopathies.
Therapeutic inertia (TI), defined as physicians' failure to increase therapy when treatment goals are unmet, is an impediment to chronic disease management. This study aimed to identify the prevalence of TI in proteinuria management among T2DM patients managed in primary care settings and to explore possible associating factors.
This was a cross-sectional study. T2DM patients with proteinuria (either microalbuminuria or macroalbuminuria) and had been followed up in 7 public primary care clinics of the Hospital Authority of Hong Kong from 1 Jan, 2014 to 31 Dec, 2015 were included. The prevalence of TI in proteinuria management and its association with patients' demographic and clinical parameters and the working profile of the attending doctors were explored. Student's t test and analysis of variance were used for analyzing continuous variables and Chi square test was used for categorical data. Multivariate stepwise logistic regression was used to determine the association between TI and the significant va. Systolic BP and microalbuminuria range of urine ACR were negatively associated with the presence of TI, whereas submaximal ACEI/ARB dose and doctors practicing over 20years were positively associated with the presence of TI. Further studies exploring the strategies to combat TI are needed to improve the clinical outcome of T2DM patients.
TI is commonly present in proteinuria management among T2DM patients, with a prevalence of 40.3% in primary care. Systolic BP and microalbuminuria range of urine ACR were negatively associated with the presence of TI, whereas submaximal ACEI/ARB dose and doctors practicing over 20 years were positively associated with the presence of TI. Further studies exploring the strategies to combat TI are needed to improve the clinical outcome of T2DM patients.
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