Comprehensive assessment of quality of life in PLHIV using WHOQOL-HIV-Bref: a study in northeastern Brazil.

Quality of life is evaluated through various factors and the individual's self-perception. In this context, considering the multifactorial nature of well-being in people living with HIV, the World Health Organization developed the WHOQOL-HIV-Bref questionnaire. This study aims to assess the quality of life of PLHIV using the WHOQOL-HIV-Bref questionnaire.

α-Synuclein Gene Hypomethylation in LRRK2 Parkinson's Disease Patients.

Background: α-Synuclein (SNCA) gene hypomethylation was reported in idiopathic Parkinson's disease (iPD). Based on a high clinical resemblance between iPD and leucine-rich repeat kinase 2 (LRRK2)-driven Parkinson's disease (L2PD), we investigated the epigenetic status of SNCA in an extensive LRRK2 clinical cohort from Spain.

Methods: We assessed the methylation levels of 23 CpG sites in the SNCA promoter region using peripheral blood DNA from L2PD patients (n = 151), LRRK2 nonmanifesting carriers (n = 55), iPD patients (n = 115), and healthy control subjects (n = 154) (total: N = 475).

DRD4 gene polymorphism and impulse control disorder induced by dopamine agonists in Parkinson's disease.

Impulse control disorders and their consequences display variability among individuals, indicating potential involvement of environmental and genetic factors. In this retrospective study, we analyzed a cohort of Parkinson's disease patients treated with dopamine agonists and investigated the influence of the dopamine D4 receptor gene polymorphism, DRD4 7R+, which is linked to psychiatric disorders, impulsive traits, and addictive behaviors. We found that DRD4 7R+ is a significant genetic risk factor associated with the severity of ICD.

Anti-alpha synuclein and anti-tau immunotherapies: Can a cocktail approach work?

The hypothesis that neurodegenerative diseases are proteinopathies due to toxic effect of different underlying proteins, such as amyloid-beta and 3+4R-tau in Alzheimer's disease (AD) and alpha-synuclein in Parkinson's disease (PD), while still controversial is supported by several studies in the literature. This has led to conduct clinical trials attempting to reduce the load of these allegedly toxic proteins by immunotherapy, mostly but not solely based on antibodies against these proteins. Already completed clinical trials have ranged from initially negative results to recently partial positive outcomes, specifically for anti-amyloid antibodies in AD but also albeit to lesser degree for anti-synuclein antibodies in PD.

Image-guided programming deep brain stimulation improves clinical outcomes in patients with Parkinson's disease.

Deep brain stimulation (DBS) is an effective treatment for patients with Parkinson's disease (PD). However, some patients may not respond optimally to clinical programming adjustments. Advances in DBS technology have led to more complex and time-consuming programming.

Spatial analysis of hospital-related mortality due to COVID-19 among children and adolescents in Brazil.

The objective was to perform a spatial analysis of the hospital mortality rate (HMR) due to severe acute respiratory syndrome (SARS) attributed to COVID-19 among children and adolescents in Brazil from 2020 to 2021. A cluster method was used to group federal units (FUs) based on HMR. In 2020, clusters with high HMRs were formed by north/northeast FUs.

Fluid and tissue biomarkers in Parkinson's disease: Immunodetection or seed amplification? Central or peripheral?

Over the last two decades there have been meaningful developments on biomarkers of neurodegenerative diseases, extensively (but not solely) focusing on their proteinopathic nature. Accordingly, in Alzheimer's disease determination of levels of total and phosphorylated tau (τ and p-τ, usually p-τ181) along with amyloid-beta1-42 (Aβ1-42) by immunodetection in cerebrospinal fluid (CSF) and currently even in peripheral blood, have been widely accepted and introduced to routine diagnosis. In the case of Parkinson's disease, α-synuclein as a potential biomarker (both for diagnosis and progression tracking) has proved more elusive under the immunodetection approach.

Implementation of Exome Sequencing in Clinical Practice for Neurological Disorders.

Neurological disorders (ND) are diseases that affect the brain and the central and autonomic nervous systems, such as neurodevelopmental disorders, cerebellar ataxias, Parkinson's disease, or epilepsies. Nowadays, recommendations of the American College of Medical Genetics and Genomics strongly recommend applying next generation sequencing (NGS) as a first-line test in patients with these disorders. Whole exome sequencing (WES) is widely regarded as the current technology of choice for diagnosing monogenic ND.

PKD phosphorylation and COP9/Signalosome modulate intracellular Spry2 protein stability.

Spry2 is a molecular modulator of tyrosine kinase receptor signaling pathways that has cancer-type-specific effects. Mammalian Spry2 protein undergoes tyrosine and serine phosphorylation in response to growth factor stimulation. Spry2 expression is distinctly altered in various cancer types.

Evaluating different levels of papain as texture modifying agent in bovine meat loaf containing transglutaminase.

In this study, bovine meat loaves were produced with different levels of papain (0.00125%, 0.0025%, 0.

Increased Phospho-AKT in Blood Cells from LRRK2 G2019S Mutation Carriers.

The purpose of this study was to investigate whether  differential phosphorylation states of blood markers can identify patients with LRRK2 Parkinson's disease (PD). We assessed phospho(P)-Ser-935-LRRK2 and P-Ser-473-AKT levels in peripheral blood cells from patients with G2019S LRRK2-associated PD (L2PD, n = 31), G2019S LRRK2 non-manifesting carriers (L2NMC, n = 26), idiopathic PD (iPD, n = 25), and controls (n = 40, total n = 122). We found no differences at P-Ser-935-LRRK2 between groups but detected a specific increase of P-Ser-473-AKT levels in all G2019S carriers, either L2PD or L2NMC, absent in iPD.

Acalculous cholecystitis associated with levodopa-carbidopa intestinal infusion therapy: A case report.

Continuous intra jejunal infusion of levodopa-carbidopa intestinal gel (LCIG) is one of the primary therapies for improving advanced Parkinson's disease symptoms. Placement of the jejunal catheter through the abdominal wall for drug administration requires a percutaneous interventional procedure called percutaneous endoscopic gastrostomy (PEG). PEG is considered a safe and straightforward procedure, and it is performed very commonly in clinical practice.

Utility of Postoperative Imaging Software for Deep Brain Stimulation Targeting in Patients with Movement Disorders.

Objective: The objective of this study was to evaluate the accuracy of the SureTune3 postoperative imaging software in determining the location of a deep brain stimulation (DBS) electrode based on clinical outcomes and the adverse effects (AEs) observed.

Methods: Twenty-six consecutive patients with Parkinson disease (n = 17), essential tremor (n = 8), and dystonia (n = 1) who underwent bilateral DBS surgery (52 electrodes) were included in this study. Presurgical assessments were performed in all patients prior to surgery and at 3 and 6 months after surgery, using quality-of-life and clinical scales in each case.

Spatial Analysis of Notified Zika Virus Congenital Syndrome, Maranhão, 2015 to 2018.

Objective: To identify spatial patterns in cases of changes in growth and development related to Zika virus infection and other infectious etiologies (denominated Zika virus congenital syndrome in this study) reported in Maranhão from 2015 to 2018 and their relation with socioeconomic and demographic variables.

Methods: Ecological study of notified Zika virus congenital syndrome cases in the 217 cities of Maranhão, Brasil. Spatial autocorrelation was calculated using GeoDa 1.

Non-motor symptoms in spasmodic dysphonia: A case control-study.

Objective: Non-motor symptoms (NMS) have been identified in some focal adult-onset dystonia. In the present study we aimed to evaluate the presence of NMS in patients with spasmodic dysphonia (SD), a focal action-induced dystonia that affects intrinsic laryngeal muscle control.

Methods: Seventeen SD patients and 17 control subjects not significantly different in age and sex were evaluated for the presence of NMS.

Association of PSP phenotypes with survival: A brain-bank study.

Introduction: The MDS-PSP criteria expand the phenotypic spectrum of PSP by adding to Richardson's syndrome (PSP-RS) other presentations such as PSP-parkinsonism (PSP-P), PSP-pure-gait-freezing (PSP-PGF), PSP-speech-language (PSP-SL), PSP-frontal (PSP-F), PSP-postural-instability (PSP-PI) and PSP-corticobasal-syndrome (PSP-CBS). Evidence about the prognostic differences between PSP phenotypes is scarce and focused on PSP-RS vs. non-PSP-RS.

Inulin gelled emulsion as a fat replacer and fiber carrier in healthier Bologna sausage.

The effects of gelled emulsions (GE) used as animal fat replacers in terms of the nutritional, technological, and sensory properties of Bologna sausages during 60 days of chilled storage have been studied. Samples with GE added exhibited a fat reduction of 31%. Sausages with GE had higher values of L* and lower values of a* compared to the control.

Video-tutorial for the Movement Disorder Society criteria for progressive supranuclear palsy.

Background: The International Parkinson and Movement Disorder Society-endorsed Progressive Supranuclear Palsy Study Group published clinical diagnostic criteria for progressive supranuclear palsy in 2017, aiming to optimize early, sensitive and specific diagnosis.

Objective: To assist physicians in the application of these criteria, we developed a video-based tutorial in which all core clinical features and clinical clues are depicted and explained.

Methods: Patients provided written informed consent to the publication of their videos.