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International Journal of Molecular... May 2024The gene encodes an orphan transcription factor of the steroid-thyroid hormone-retinoid receptor superfamily. This review focuses on the clinical findings associated... (Review)
Review
The gene encodes an orphan transcription factor of the steroid-thyroid hormone-retinoid receptor superfamily. This review focuses on the clinical findings associated with the pathogenic variants so far reported, including three unreported cases. Also, its role in neurodegenerative diseases, such as Parkinson's or Alzheimer's disease, is examined, as well as a brief exploration on recent proposals to develop novel therapies for these neurological diseases based on small molecules that could modulate transcriptional activity. The main characteristic shared by all patients is mild to severe developmental delay/intellectual disability. Moderate to severe disorder of the expressive and receptive language is present in at least 42%, while neuro-psychiatric issues were reported in 53% of patients. Movement disorders, including dystonia, chorea or ataxia, are described in 37% patients, although probably underestimated because of its frequent onset in late adolescence-young adulthood. Finally, epilepsy was surprisingly present in 42% of patients, being drug-resistant in three of them. The age at onset varied widely, from five months to twenty-six years, as did the classification of epilepsy, which ranged from focal epilepsy to infantile spasms or Lennox-Gastaut syndrome. Accordingly, we propose that should be considered as a first-tier target gene for the genetic diagnosis of developmental and epileptic encephalopathy.
Topics: Humans; Epilepsy; Nuclear Receptor Subfamily 4, Group A, Member 2; Developmental Disabilities; Intellectual Disability
PubMed: 38791237
DOI: 10.3390/ijms25105198 -
Brain Sciences May 2024People with Parkinson's disease (pwPD) present alterations of spatiotemporal gait parameters that impact walking ability. While preliminary studies suggested that... (Review)
Review
BACKGROUND
People with Parkinson's disease (pwPD) present alterations of spatiotemporal gait parameters that impact walking ability. While preliminary studies suggested that dual-task gait training improves spatiotemporal gait parameters, it remains unclear whether dual-task gait training specifically improves dual-task gait performance compared to single-task gait training. The aim of this review is to assess the effect of dual-task training relative to single-task gait training on specific gait parameters during dual-task tests in pwPD.
METHODS
We conducted a systematic review and meta-analysis of randomized controlled trials (RCTs), searching three electronic databases. Two reviewers independently selected RCTs, extracted data, and applied the Cochrane risk-of-bias tool for randomized trials (Version 2) and the GRADE framework for assessing the certainty of evidence. The primary outcomes were dual-task gait speed, stride length, and cadence. Secondary outcomes included dual-task costs on gait speed, balance confidence, and quality of life.
RESULTS
We included 14 RCTs (548 patients). Meta-analyses showed effects favoring dual-task training over single-task training in improving dual-task gait speed (standardized mean difference [SMD] = 0.48, 95% confidence interval [CI] = 0.20-0.77; 11 studies; low certainty evidence), stride length (mean difference [MD] = 0.09 m, 95% CI = 0.04-0.14; 4 studies; very low certainty evidence), and cadence (MD = 5.45 steps/min, 95% CI = 3.59-7.31; 5 studies; very low certainty evidence). We also found a significant effect of dual-task training over single-task training on dual-task cost and quality of life, but not on balance confidence.
CONCLUSIONS
Our findings support the use of dual-task training relative to single-task training to improve dual-task spatiotemporal gait parameters in pwPD. Further studies are encouraged to better define the features of dual-task training and the clinical characteristics of pwPD to identify better responders.
PubMed: 38790495
DOI: 10.3390/brainsci14050517 -
Ageing Research Reviews Jul 2024We comprehensively summarized the cohort evidence to date on adult-onset hearing loss as risk factor for incident cognitive impairment and dementia, and examined the... (Meta-Analysis)
Meta-Analysis
BACKGROUND
We comprehensively summarized the cohort evidence to date on adult-onset hearing loss as risk factor for incident cognitive impairment and dementia, and examined the evidence for dose-response, risk for various dementia subtypes, and other moderators. Previous meta-analyses were less comprehensive.
METHODS
We included cohort studies with participants without dementia and with hearing assessments at baseline, minimum 2 years follow-up and incident cognitive outcomes. We used random-effect models and subgroup and meta-regression on moderator analyses.
RESULTS
We identified fifty studies (N=1,548,754). Hearing loss (yes/no) was associated with incident dementia risk (HR=1.35 [95% CI = 1.26 - 1.45), mild cognitive impairment (MCI HR=1.29 [95% CI = 1.11 - 1.50]), cognitive decline not specified as MCI or dementia (HR=1.29 [95% CI = 1.17 - 1.42]), and Alzheimer's disease dementia (ADD, HR=1.56 [95% CI = 1.30 - 1.87]), but not with vascular dementia (HR, 1.30 [95% CI = 0.83 - 2.05]). Each 10-decibel worsening of hearing was associated with a 16% increase in dementia risk (95% CI = 1.07 - 1.27). The effect of hearing loss did not vary across potential moderators.
CONCLUSIONS
Cohort studies consistently support that adult-onset hearing loss increases the risk of incident cognitive decline, dementia, MCI, and ADD.
Topics: Aged; Humans; Age of Onset; Cognitive Dysfunction; Cohort Studies; Dementia; Hearing Loss; Incidence; Risk Factors
PubMed: 38788800
DOI: 10.1016/j.arr.2024.102346 -
Frontiers in Aging Neuroscience 2024Behavioral variant frontotemporal dementia (bvFTD) is a neurodegenerative disorder characterized by diverse and prominent changes in behavior and personality. One of the...
Behavioral variant frontotemporal dementia (bvFTD) is a neurodegenerative disorder characterized by diverse and prominent changes in behavior and personality. One of the greatest challenges in bvFTD is to capture, measure and predict its disease progression, due to clinical, pathological and genetic heterogeneity. Availability of reliable outcome measures is pivotal for future clinical trials and disease monitoring. Detection of change should be objective, clinically meaningful and easily assessed, preferably associated with a biological process. The purpose of this scoping review is to examine the status of longitudinal studies in bvFTD, evaluate current assessment tools and propose potential progression markers. A systematic literature search (in PubMed and Embase.com) was performed. Literature on disease trajectories and longitudinal validity of frequently-used measures was organized in five domains: global functioning, behavior, (social) cognition, neuroimaging and fluid biomarkers. Evaluating current longitudinal data, we propose an adaptive battery, combining a set of sensitive clinical, neuroimaging and fluid markers, adjusted for genetic and sporadic variants, for adequate detection of disease progression in bvFTD.
PubMed: 38784446
DOI: 10.3389/fnagi.2024.1382593 -
The Journal of Pharmacy Technology :... Jun 2024Despite global concerns of an opioid epidemic, there is no systematic literature review on how frequently these drugs are used in nursing home (NH) populations,...
Despite global concerns of an opioid epidemic, there is no systematic literature review on how frequently these drugs are used in nursing home (NH) populations, including those living with dementia. This systematic review aims to describe the prevalence and incidence of opioid use in NHs. A secondary objective is to describe the use of these drugs in a subset of NH residents, namely among persons living with dementia. A systematic literature review was carried out using MEDLINE and Scopus (PROSPERO registration number CRD42021254210). Screening of title and abstract was carried out by 2 persons independently for studies published between January 1, 2011 and May 19, 2021. The main outcomes were annual prevalence, period prevalence, and duration of opioid use. From a total of 178 identified studies, 29 were considered eligible for inclusion. The annual prevalence of any opioid use among all NH residents without any selection criteria ranged from 6.3% to 50% with a median annual prevalence of 22.9% (Q25-Q75: 19.5%-30.2%), based on 17 studies. Five studies measured the annual prevalence in NH residents living with dementia, finding that this ranged from 10% to 39.6%. More evidence is needed quantifying opioid use in NH, especially among persons living with dementia. Given that opioid use in NH is still a problem, implementation of a pain management protocol in NH or nationally would help improve clinical outcomes.
PubMed: 38784025
DOI: 10.1177/87551225231217903 -
Geriatric Nursing (New York, N.Y.) May 2024This systematic review aimed to describe the characteristics of instruments that assess eating ability and/or mealtime behaviors in persons living with dementia, and...
This systematic review aimed to describe the characteristics of instruments that assess eating ability and/or mealtime behaviors in persons living with dementia, and evaluate their psychometric properties. Five databases were searched for relevant records between 1/1/1980 and 5/25/2023. Records included instruments assessing eating ability and/or mealtime behaviors of people with dementia. The psychometric quality of the instruments was evaluated using the Psychometric Assessment for Self-report and Observational Tools (PAT). 45 eligible instruments were identified from 115 records. While 38 instruments were scored as having low psychometric quality, 7 had moderate quality. Edinburgh Feeding Evaluation in Dementia (EdFED), Mealtime Difficulty Scale for older adults with Dementia (MDSD), and Dementia Hyperphagic Behavior Scale (DHBS) were scored as having the highest quality (total PAT score = 9). Further refinement of existing instruments and additional psychometric testing in larger, diverse samples will improve pragmatic use in dementia mealtime care research and practice.
PubMed: 38781628
DOI: 10.1016/j.gerinurse.2024.05.005 -
Cureus Apr 2024Alzheimer's disease (AD), a neurodegenerative disorder characterized by cognitive decline, poses a significant healthcare challenge worldwide. The accumulation of... (Review)
Review
Alzheimer's disease (AD), a neurodegenerative disorder characterized by cognitive decline, poses a significant healthcare challenge worldwide. The accumulation of amyloid-beta (Aβ) plaques and hyperphosphorylated tau protein drives neuronal degeneration and neuroinflammation, perpetuating disease progression. Despite advancements in understanding the cellular and molecular mechanisms, treatment hurdles persist, emphasizing the need for innovative intervention strategies. Quantum dots (QDs) emerge as promising nanotechnological tools with unique photo-physical properties, offering advantages over conventional imaging modalities. This systematic review endeavors to elucidate the theranostic potential of QDs in AD by synthesizing preclinical and clinical evidence. A comprehensive search across electronic databases yielded 20 eligible studies investigating the diagnostic, therapeutic, or combined theranostic applications of various QDs in AD. The findings unveil the diverse roles of QDs, including inhibiting Aβ and tau aggregation, modulating amyloidogenesis pathways, restoring membrane fluidity, and enabling simultaneous detection of AD biomarkers. The review highlights the potential of QDs in targeting multiple pathological hallmarks, delivering therapeutic payloads across the blood-brain barrier, and facilitating real-time imaging and high-throughput screening. While promising, challenges such as biocompatibility, surface modifications, and clinical translation warrant further investigation. This systematic review provides a comprehensive synthesis of the theranostic potential of QDs in AD, paving the way for translational research and clinical implementation.
PubMed: 38770476
DOI: 10.7759/cureus.58677 -
Respiratory Medicine Jul 2024Sex and gender are related concepts, but they have distinct meanings and implications. Respiratory diseases are a major driver of morbi-mortality. It is frequent that... (Review)
Review
CONTEXT
Sex and gender are related concepts, but they have distinct meanings and implications. Respiratory diseases are a major driver of morbi-mortality. It is frequent that respirologists, primary care doctors, or other specialists, when dealing with respiratory patients, and aiming for a holistic management of their patients, they all skip any question or matter associated with sexual activity or behavior.
OBJECTIVES
To review how sexual activity is explored in respiratory patients.
METHODS
To conduct this review, we endorse PRISMA guidance for reporting systematic reviews, and also the sex and gender equity in research (SAGER) guidelines.
RESULTS
Compared to other conditions such as heart disease, mental disorders, Alzheimer's, or even COVID-19, to date there is no review focused on sexual activity and respiratory health and disease. Asthma, COPD and other respiratory patients can have their sexual activity and behaviors affected by their disease, but also limitations in sex might be the sentinel event of an incident respiratory disease. Asking on sexual desire and related sex issues should not be considered taboo in any respiratory consultation. Importantly, any marketed stereotypes on cigarettes after any sexual activity should be counteracted. Many clinical trials of respiratory drugs keep recruiting few or no women, so research on women's sexual desire and satisfaction lags behind that of men's. By using the available objective tools and validated questionnaires summarized in this review, these important domains of respiratory patients and their partners can be properly identified and managed.
CONCLUSIONS
Sexual activity, depending on age and individual specific conditions, is a fundamental driver of overall health, and therefore of lung health.
Topics: Humans; Sexual Behavior; Female; Male; Asthma; Pulmonary Disease, Chronic Obstructive; COVID-19; Sex Factors; Respiratory Tract Diseases
PubMed: 38768665
DOI: 10.1016/j.rmed.2024.107665 -
International Journal of Surgery... May 2024
A commentary on "The value of cholinesterase inhibitors for improving neuropsychiatric and functional assessment scores in patients with alzheimer disease: a systematic review and meta-analysis of on placebo-controlled RCTs".
PubMed: 38768040
DOI: 10.1097/JS9.0000000000001548 -
Frontiers in Aging Neuroscience 2024Mild cognitive impairment (MCI) is commonly defined as a transitional subclinical state between normal aging and dementia. A growing body of research indicates that...
BACKGROUND
Mild cognitive impairment (MCI) is commonly defined as a transitional subclinical state between normal aging and dementia. A growing body of research indicates that health behaviors may play a protective role against cognitive decline and could potentially slow down the progression from MCI to dementia. The aim of this study is to conduct a bibliometric analysis of literature focusing on health behaviors and MCI to summarize the factors and evidence regarding the influence of health behaviors on MCI.
METHODS
The study performed a bibliometric analysis by retrieving publications from the Science Citation Index and Social Sciences Citation Index sub-databases within the Web of Science Core Collection. Utilizing VOSviewer and CiteSpace software, a total of 2,843 eligible articles underwent co-citation, co-keywords, and clustering analyses. This methodology aimed to investigate the current status, trends, major research questions, and potential future directions within the research domain.
RESULTS
The bibliometric analysis indicates that research on healthy behaviors in individuals with MCI originated in 2002 and experienced rapid growth in 2014, reflecting the increasing global interest in this area. The United States emerged as the primary contributor, accounting for more than one-third of the total scientific output with 982 articles. Journals that published the most articles on MCI-related health behaviors included "Journal of Alzheimer's Disease," "Neurobiology of Aging," "Frontiers in Aging Neuroscience," and other geriatrics-related journals. High-impact papers identified by VOSviewer predominantly cover concepts related to MCI, such as diagnostic criteria, assessment, and multifactorial interventions. Co-occurrence keyword analysis highlights five research hotspots in health behavior associated with MCI: exercise, diet, risk factors and preventive measures for dementia, cognitive decline-related biomarkers, and clinical trials.
CONCLUSION
This study provides a comprehensive review of literature on health behavior in individuals with MCI, emphasizing influential documents and journals. It outlines research trends and key focal points, offering valuable insights for researchers to comprehend significant contributions and steer future studies.
PubMed: 38765772
DOI: 10.3389/fnagi.2024.1402347