Measures Of Function Research Articles

Low Utility of Routine Thyroid Function Testing for Bowel Symptoms: A Population-Based Assessment.

Chronic constipation, diarrhea, and fecal incontinence (FI) are prevalent with significant impact on quality of life and healthcare utilization. Thyroid dysfunction was recognized as a potential contributor to bowel disturbances in selected populations, but the strength/consistency of this association remain unclear. To investigate the relationship between thyroid function and bowel health measures (constipation, diarrhea, and FI) in a nationally representative sample of the U.S. We conducted a cross-sectional analysis of the National Health and Nutrition Examination Survey (NHANES) in 2005-2008. Adults aged ≥ 20 with TSH, free T4 (fT4), and bowel health data were included. Multivariable logistic regression models were constructed to examine associations between thyroid function and bowel health measures, adjusting for potential confounders. Among 6,552 participants, 93.6%, 4.3%, 1.7%, and 0.4% had TSH levels of 0.24-5.4, 5.4-10, < 0.24, and ≥ 10 mIU/L, respectively. There were no significant differences in prevalence of thyroid dysfunction between individuals with constipation or diarrhea and those without. In fully adjusted models, TSH was not a significant predictor of constipation, diarrhea, or FI, but higher fT4 was protective against constipation as a continuous variable (OR 0.47, CI: 0.26-0.85, p = 0.014)). Neither hypothyroid nor hyperthyroid status significantly correlated with constipation or diarrhea, although hyperthyroidism was associated with FI (OR 3.58, CI:1.51-8.49, p = 0.005). While bowel disturbances were common in this nationally representative sample, the yield of thyroid function testing was low. Overt hypo- and hyperthyroidism were not significantly associated with constipation or diarrhea. Clinical utility of routine thyroid testing for bowel symptoms may be low in patients without systemic manifestations of severe thyroid disease.

Efficacy of neuromuscular electrical stimulation with modern rehabilitation techniques in the treatment of acute ischemic stroke patients with post-motor dysfunction.

Acute ischemic stroke (AIS) refers to a sudden loss of blood flow in a region of the brain, which leads to a loss of neurological function. To unveil the efficacy of neuromuscular electrical stimulation (NMES) with modern rehabilitation techniques in AIS patients with post-motor dysfunction. A total of 200 AIS patients with post-motor dysfunction were divided into groups A, B, C, and D (n = 50). Patients in the four groups were routinely treated with medicine, on this basis: group B received NMES treatment; group C received modern rehabilitation technology treatment; and group D was treated with NMES and modern rehabilitation technology. Rehabilitation effect, cerebral hemodynamic indices, neurological function recovery, Fugl-Meyer Assessment (FMA) and Motor Assessment Scale (MAS) scores, self-care, and quality of life were compared. After treatment, the total effective rate of group D was 96% higher than that of group A (64%), group B (82%), and group C (84%). Bilateral middle cerebral artery Vm and Vs and scores of FMA, MAS, functional independence measure, and modified Barthel index increased; RI and NHISS scores decreased; and all group D improved significantly versus groups A, B, and C, and both groups B and C improved significantly versus group A. NMES with modern rehabilitation technologies synergistically treat motor dysfunction after AIS with ideal rehabilitation effect, improving cerebral hemodynamics, neurological and limb motor function recovery, and self-care ability and quality of life.

Hardy-Rand-Rittler colour vision testing in cone and cone-rod dystrophies: correlation with structural and functional outcome measures.

To determine how Hardy-Rand-Rittler (HRR) colour vision testing correlates with visual functional and structural assessments in Cone and Cone-Rod Dystrophy. Thirty-four Cone and 69 Cone-Rod Dystrophy patients diagnosed by electroretinography (ERG) at the Save Sight Institute in Sydney were included in a retrospective analysis. Each patient's HRR colour vision test scores were compared with markers of cone and rod system function including visual acuity (VA), ERG responses, changes on Spectral Domain Optical Coherence Tomography (OCT) and Fundus Autofluorescence. The number of plates identified on HRR testing correlated with logMAR best-corrected distance VA; r(101) = -0.49, p < 0.0001. HRR scores correlated with markers of cone and macula function including OCT Ellipsoid Zone Gap Width, Central Macular and Outer Nuclear Layer Thickness, Full Field ERG 30 Hz flicker amplitudes, light adapted 3.0 b-wave amplitudes and Pattern ERG 15- and 30-degree p50 amplitudes. HRR colour vision testing correlates with structural and functional measures in Cone and Cone-Rod Dystrophy. HRR colour vision testing provides a simple clinic-based option to monitor disease changes in Cone and Cone-Rod Dystrophy patients, especially when ERG testing is not available.

Hepcidin, Incident Heart Failure and Cardiac Dysfunction in Older Adults: the ARIC Study.

Hepcidin regulates plasma and tissue iron levels. We studied the association of hepcidin levels with the risk of incident heart failure (HF) and cardiac dysfunction in older adults. We included adults from the ongoing, longitudinal Atherosclerosis Risk in Communities (ARIC) study who were free from prevalent anemia and HF at Visit 5 (2011-2013) and had available hepcidin and covariate data. Associations of plasma hepcidin levels with overall adjudicated incident HF, HF with reduced and HF with preserved ejection fraction (HFrEF and HFpEF) were assessed using multivariable Cox proportional hazards regression models. Cross-sectional associations of hepcidin with echocardiographic measures of cardiac structure and function were estimated using multivariable linear regression models. The mean age was 75±5 years old and 56% were women. In fully adjusted models, lower hepcidin levels were associated with a higher risk of overall incident HF (HR [95% CI] per 50% lower hepcidin: 1.15 [1.05-1.26]; P=0.003) and HFpEF (HR [95% CI]: 1.25 [1.10-1.42]; P=0.001). Plasma hepcidin level was not significantly associated with the risk of incident HFrEF (HR [95% CI]: 1.08 [0.94-1.24]; P=0.30). Lower hepcidin levels were associated with higher E wave (P=0.046), higher E/e' ratio (P=0.002), higher left atrial volume index (P=0.005) and higher pulmonary artery systolic pressure (P=0.02). In community-dwelling older adults without anemia, lower plasma hepcidin levels associate with a higher risk of incident HF (particularly HFpEF) and diastolic dysfunction. The findings imply the importance of monitoring iron metabolism dysregulation, even in absence of anemia, in late life.

Resting-State EEG Oscillations in Amyotrophic Lateral Sclerosis (ALS): Toward Mechanistic Insights and Clinical Markers

Introduction: Amyotrophic lateral sclerosis (ALS) is a complex, progressive neurodegenerative disorder characterized by the degeneration of motor neurons in the brain, brainstem, and spinal cord. Several neuroimaging techniques can help reveal the pathophysiology of ALS. One of these is the electroencephalogram (EEG), a noninvasive and relatively inexpensive tool for examining electrical activity of the brain with excellent temporal precision. Methods: This mechanistic review examines the pattern of resting-state EEG activity. With a focus on publications published between January 1995 and October 2024, we carried out a comprehensive search in October 2024 across a number of databases, including PubMed/Medline, Research Gate, Google Scholar, and Cochrane. Results: The literature search yielded 17 studies included in this review. The studies varied significantly in their methodology and patient characteristics. Despite this, a common biomarker typical of ALS was found—reduced alpha power. Regarding other oscillations, the findings are less consistent and sometimes contradictory. As this is a mechanistic review, three possible explanations for this biomarker are provided. The main and most important one is increased cortical excitability. In addition, due to the limitations of the studies, recommendations for future research on this topic are outlined to enable a further and better understanding of EEG patterns in ALS. Conclusions: Most studies included in this review showed alpha power deficits in ALS patients, reflecting pathological hyperexcitability of the cerebral cortex. Future studies should address the methodological limitations identified in this review, including small sample sizes, inconsistent frequency-band definitions, and insufficient functional outcome measures, to solidify and extend current findings.

Feasibility of Group Telerehabilitation for Older Adults: A Quality Improvement Project

A growing body of evidence suggests group rehabilitation may empower patients to achieve functional goals by leveraging social connectivity. From previous work, we adapted an in-person group for older Veterans to a telerehabilitation group called Fit for Life. The current quality improvement project aimed to evaluate the feasibility of implementing Fit for Life. Eligible Veterans lived in the community and were at risk for falls or hospitalization per functional performance measures. We used convergent parallel mixed methods approach in the evaluation. Eighteen Veterans ≥55 years old (all male, mean 77 years, 39% rural) received a referral to Fit for Life, two did not participate. We analyzed and integrated adaptations posed by clinicians and Veterans in real-time to enhance access to and participation in Fit for Life. Future work will explore clinical effectiveness, tools to identify patients most likely to benefit, and care delivery structures that integrate telerehabilitation groups for older Veterans.

Single-layer MoSeN – a synthetic Janus two-dimensional transition-metal compound grown by plasma-assisted molecular beam epitaxy

Abstract Two-dimensional (2D) nanomaterials hold immense application potentials such as in high-performance nano-electronics, and asymmetric 2D structures with inherent electric dipoles will extend the application promises. Yet synthesizing asymmetric 2D structures remains challenging. Herein, we report the first synthesis of single-layer (SL) hexagonal (H-) phase polar Janus MoSeN via nitrogen-plasma-assisted molecular beam epitaxy. This is a significant achievement given the incommensurate valence between Mo, Se, and N, and the inherent strain from the Janus architecture. Using an array of compositional and structural characterization methods, we establish the atomic configurations of the synthesized MoSeN SL, confirming that they are 2D Janus transition-metal chalcogen-nitrides rather than alloys. By employing density functional theory calculations and transport measurements, we explore the structural feasibility and offer insights into its electronic properties, demonstrating its metallic behavior with ohmic contact characteristics. Piezoresponse force microscopy measurements reveal vertical piezoelectricity and ferroelectric potentials from the Janus MoSeN SL. Therefore, it exhibits great potential for applications in, e.g. piezoelectric and ferroelectric devices, sensing technologies, and optoelectronic devices. This work not only addresses existing challenges in 2D nanomaterial research but also opens new avenues for the development of advanced functional materials.

Massively parallel characterization of transcriptional regulatory elements.

The human genome contains millions of candidate cis-regulatory elements (cCREs) with cell-type-specific activities that shape both health and many disease states1. However, we lack a functional understanding of the sequence features that control the activity and cell-type-specific features of these cCREs. Here we used lentivirus-based massively parallel reporter assays (lentiMPRAs) to test the regulatory activity of more than 680,000 sequences, representing an extensive set of annotated cCREs among three cell types (HepG2, K562 and WTC11), and found that 41.7% of these sequences were active. By testing sequences in both orientations, we find promoters to have strand-orientation biases and their 200-nucleotide cores to function as non-cell-type-specific 'on switches' that provide similar expression levels to their associated gene. By contrast, enhancers have weaker orientation biases, but increased tissue-specific characteristics. Utilizing our lentiMPRA data, we develop sequence-based models to predict cCRE function and variant effects with high accuracy, delineate regulatory motifs and model their combinatorial effects. Testing a lentiMPRA library encompassing 60,000 cCREs in all three cell types further identified factors that determine cell-type specificity. Collectively, our work provides an extensive catalogue of functional CREs in three widely used cell lines and showcases how large-scale functional measurements can be used to dissect regulatory grammar.

Life space restriction following disruptive life events: Evidence from the COVID-19 pandemic.

Restriction of life space mobility is associated with adverse health outcomes including depression, morbidity, mortality and poorer quality of life. In this study, we aimed to determine the impact of COVID-19 and associated employment loss on the life space of older adults in Singapore. An in-person survey was administered to a cohort of older Singaporeans above 50 years old (N = 1,118). Data collected included self-report measures of life space, sensory function, well-being, cognitive function, depression, frailty, and objective measures of muscle mass and body mass index. Tests of association and linear regression were performed to test the hypotheses, while accounting for the effects of health and sociodemographic covariates. The life space of older adults have significantly diminished after the pandemic. This loss remained significant despite controlling for covariates and was more pronounced amongst those who had lost employment during the pandemic. In addition, losing employment during the pandemic was associated with having smaller life spaces. Life space assessments are a potential important noninvasive marker for not only health and longevity, but the ability to sustain employment. Public health crises like the COVID-19 pandemic and employment loss negatively impacts the life spaces of older adults. It is needful to emphasize the maintenance of life space when faced with disruptive life events and provide multidisciplinary collaborative solutions to restore the quality of life amongst vulnerable older adults.

Multicenter Validation of the Ocular Myasthenia Gravis Rating Scale Questionnaire.

Ocular myasthenia gravis (OMG) causes disabling ocular symptoms of ptosis and diplopia, but a validated disease-specific patient-reported outcome measure (PROM) has not been reported. We sought to validate a novel PROM for OMG, OMG Rating Scale Questionnaire (OMGRate-q), as a measure of visual functioning to support patient-centered care. This was a prospective study of patients aged 18 years and older with OMG receiving care at 3 medical centers (January 2022-October 2023). The 10-item OMGRate-q was administered, and response data were analyzed using exploratory factor analysis followed by Andrich rating scale model fitting. Poorly fitting items were eliminated, and the model was refit to produce the final items, item locations, and thresholds. Latent scores (theta) were estimated, test-retest reliability was established with repeat measures, and correlation with other myasthenia gravis PROMs was measured. Of the 134 patients included in the study, 45 (33.6%) were women, 99 (73.9%) were White, and the median age (interquartile range [IQR]) was 64.6 years (52.6-73.9 years). A ptosis-related item showed significant item-trait deviation (p < 0.001) and was kept as a separate factor from the remaining diplopia-related items. After excluding this item, there were no misfitting items. Theta estimation for the diplopia scale ranged from -3.47 to 5.51 with median = -0.53 (IQR -2.33, 0.72). Test-retest reliability of the OMGRate-q diplopia subscale was high (intraclass correlation coefficient = 0.95 [95% CI 0.90-0.98]) and of the ptosis item was good (weighted κ = 0.56). No significant differences were observed in OMGRate-q diplopia subscale scores or the ptosis item between the 3 sites (diplopia p = 0.44; ptosis p = 0.32). OMGRate-q scores were moderately to highly correlated with the Myasthenia Gravis Quality of Life 15 questionnaire (n = 122; diplopia: r = 0.68, p < 0.001; ptosis: r = 0.48, p < 0.001) and Myasthenia Gravis Impairment Index (n = 130; diplopia: r = 0.76, p < 0.001; ptosis: r = 0.77, p < 0.001). OMGRate-q length was acceptable to most participants (125/130 [96.2%]), and the questionnaire was completed in 80.7 (±45.2) seconds. The OMGRate-q is a valid and reliable disease-specific PROM for OMG that may be used to facilitate patient-centered research and care. However, the OMGRate-q emphasizes the impact of diplopia on visual functioning with a single separate item measuring ptosis. Future studies are needed to determine OMGRate-q responsiveness to disease-state changes and how to add measures of ptosis to this scale or whether a separate measure is needed.

Longitudinal Insights Into Childhood Onset Facioscapulohumeral Dystrophy: A 5-Year Natural History Study.

Facioscapulohumeral dystrophy (FSHD) is an inherited muscle disorder, with childhood onset in 20% of patients. Understanding the natural history of childhood FSHD and identifying clinical and functional outcome measures are crucial for clinical care and future trials. In a prospective nationwide FSHD cohort study (iFocus), 20 childhood-onset patients were assessed at baseline, 2 years, and 5 years. Assessments included manual muscle and functional muscle tests, FSHD clinical score (FSHD-CS), FSHD clinical severity scale (FSHD-CSS), and muscle ultrasonography (MUS). Eighteen patients (aged 2-17 years at baseline) completed the 5-year follow-up. Disease progression varied, with a mean FSHD-CS increase of 1.6. Despite objective disease progression, most participants (89%) did not perceive change. The most sensitive outcome measures were FSHD-CS (standardized response mean [SRM] 1.07), FSHD-CSS score (SRM 0.92), and MUS findings (SRM 0.68). Baseline characteristics did not predict progression. Disease progression was variable and often remained unnoticed by participants. Quality of life improved, and fatigue levels decreased over 5 years. The relatively slow progression and physiologic growth highlight the need for sensitive end points within a 1-2-year time frame. Future pediatric studies should consider larger international cohorts, assess reachable workspace, and include MUS and FSHD functional composite outcome measure (FSHD-COM).

Sarcopenia and Cardiogeriatrics: The Links Between Skeletal Muscle Decline and Cardiovascular Aging

Sarcopenia, an age-related decline in skeletal muscle mass, strength, and function, is increasingly recognized as a significant condition in the aging population, particularly among those with cardiovascular diseases (CVD). This review provides a comprehensive synthesis of the interplay between sarcopenia and cardiogeriatrics, emphasizing shared mechanisms such as chronic low-grade inflammation (inflammaging), hormonal dysregulation, oxidative stress, and physical inactivity. Despite advancements in diagnostic frameworks, such as the EWGSOP2 and AWGS definitions, variability in criteria and assessment methods continues to challenge standardization. Key diagnostic tools include dual-energy X-ray absorptiometry (DXA) and bioimpedance analysis (BIA) for muscle mass, alongside functional measures such as grip strength and gait speed. The review highlights the bidirectional relationship between sarcopenia and cardiovascular conditions such as heart failure, aortic stenosis, and atherosclerotic cardiovascular disease, which exacerbate each other through complex pathophysiological mechanisms. Emerging therapeutic strategies targeting the mTOR pathway, NAD+ metabolism, and senescence-related processes offer promise in mitigating sarcopenia’s progression. Additionally, integrated interventions combining resistance training, nutritional optimization, and novel anti-aging therapies hold significant potential for improving outcomes. This paper underscores critical gaps in the evidence, including the need for longitudinal studies to establish causality and the validation of advanced therapeutic approaches in clinical settings. Future research should leverage multi-omics technologies and machine learning to identify biomarkers and personalize interventions. Addressing these challenges is essential to reducing sarcopenia’s burden and enhancing the quality of life for elderly individuals with comorbid cardiovascular conditions. This synthesis aims to guide future research and promote effective, individualized management strategies.

A scoping review and synthesis of the literature on the relation between mobility impairment and cognitive impairment.

The present review examined the evidence for a potentially bidirectional association between mobility function and cognitive function in midlife and older adulthood. In 2023-2024, we conducted a scoping review by carrying out systematic searches on Google Scholar, PubMed, and PsycINFO for articles that included measures of mobility function and cognitive function. Of the 1,504 articles screened, 40 were included for review. The majority of reviewed studies found evidence of a relation between lower mobility function/greater mobility decline and lower cognitive function/greater cognitive decline. Prospective effects were observed in both directions; however, only five studies directly tested the bidirectionality of the association between mobility function and cognitive function. Individuals with lower mobility function may be more likely to experience declines in cognitive function and vice versa. More research is needed to further test the bidirectionality of this association and to identify protective factors that may disrupt this relation and reduce the incidence of co-occurring mobility impairment and cognitive impairment.

Broadband Long Wavelength Light Promotes Myopic Eye Growth and Alters Retinal Responses to Light Offset in Chick.

Prolonged exposure to broadband light with a short-wavelength (blue) or long-wavelength (orange/red) bias is known to impact eye growth and refraction, but the mechanisms underlying this response are unknown. Thus, the present study investigated the effects of broadband blue and orange lights with well-differentiated spectrums on refractive development and global flash electroretinography (gfERG) measures of retinal function in the chick myopia model. Chicks were raised for 4 days with monocular negative lenses, or no lens, under blue, orange, or white light. Chick weight, eye dimensions, and refraction were measured at the conclusion of rearing. In a separate cohort of chicks, the effect of 4 days of colored light rearing on retinal responses to orange, blue, or white light flashes was assessed using gfERG. Chicks reared under orange light for 4 days exhibited a significantly larger myopic shift in response to negative lenses compared to those reared under blue light. Orange light rearing for 4 days increased the gfERG d-wave amplitude and implicit time in response to orange light flashes but did not alter responses to white or blue flashes. Blue and white light rearing did not affect the retina's response to light flashes of any color. Orange light rearing exacerbated defocus-induced myopia relative to blue light rearing. The gfERG recordings revealed that prolonged orange light exposure increased retinal responsivity to the offset of long wavelength light flashes, suggesting a potential role for ON/OFF pathway balance in generating the refractive response that requires further electrophysiological and molecular investigation.

Preliminary Effectiveness of a Telehealth-Delivered Exercise Program in Older Adults Living With and Beyond Cancer: Retrospective Study.

Exercise can attenuate the deleterious combined effects of cancer treatment and aging among older adults with cancer, yet exercise participation is low. Telehealth exercise may improve exercise engagement by decreasing time and transportation barriers; however, the utility of telehealth exercise among older adults with cancer is not well established. We aimed to evaluate the preliminary effectiveness of a one-on-one, supervised telehealth exercise program on physical function, muscular endurance, balance, and flexibility among older adults with cancer. In this retrospective study, we analyzed electronic health record data collected from the Personal Optimism With Exercise Recovery clinical exercise program delivered via telehealth among older adults with cancer (≥65 y) who completed a virtual initial program telehealth assessment between March 2020 and December 2021. The virtual initial assessment included the following measures: 30-second chair stand test, 30-second maximum push-up test, 2-minute standing march, single leg stance, plank, chair sit and reach, shoulder range of motion, and the clock test. All baseline measures were repeated after 12-weeks of telehealth exercise. Change scores were calculated for all assessments and compared to minimal clinically important difference (MCID) values for assessments with published MCIDs. Paired samples t tests (2-tailed) were conducted to determine change in assessment outcomes. Older adults with cancer who chose to participate in the telehealth exercise program (N=68) were 71.8 (SD 5.3) years of age on average (range 65-92 y). The 3 most common cancer types in this sample were breast (n=13), prostate (n=13), and multiple myeloma (n=8). All cancer stages were represented in this sample with stage II (n=16, 23.5%) and III (n=18, 26.5%) being the most common. A follow-up telehealth assessment was completed by 29.4% (n=20) of older adults with cancer. Among those who completed a follow-up telehealth assessment, there were significant increases in the 30-second chair stand (n=19; mean change +2.00 repetitions, 95% CI 0.12 to 3.88) and 30-second maximum push-up scores (n=20; mean change +2.85 repetitions, 95% CI 1.60 to 4.11). There were no significant differences for the 2-minute standing march, plank, single leg stance, sit and reach, shoulder mobility, or clock test (P>.05). Nine (47.3%) older adults with cancer had a change in 30-second chair stand scores greater than the MCID of 2 repetitions. Our findings suggest a one-on-one, supervised telehealth exercise program may positively influence measures of physical function, muscular endurance, balance, and flexibility among older adults with cancer, but more adequately powered trials are needed to confirm these findings.

Neighborhood environment associations with cognitive function and structural brain measures in older African Americans

BackgroundSince older adults spend significant time in their neighborhood environment, environmental factors such as neighborhood socioeconomic disadvantage, high racial segregation, low healthy food availability, low access to recreation, and minimal social engagement may have adverse effects on cognitive function and increase susceptibility to dementia. DNA methylation, which is associated with neighborhood characteristics as well as cognitive function and white matter hyperintensity (WMH), may act as a mediator between neighborhood characteristics and neurocognitive outcomes.MethodsIn this study, we examined whether DNA methylation in peripheral blood leukocytes mediates the relationship between neighborhood characteristics and cognitive function (N = 542) or WMH (N = 466) in older African American (AA) participants without preliminary evidence of dementia from the Genetic Epidemiology Network of Arteriopathy (GENOA).ResultsFor a 1-mile buffer around a participant’s residence, each additional fast food destination or unfavorable food store with alcohol per square mile was nominally associated with a 0.05 (95%CI: 0.01, 0.09) and a 0.04 (0.00, 0.08) second improvement in visual conceptual tracking score, respectively. Also, each additional alcohol drinking place per square mile was nominally associated with a 0.62 (0.05, 1.19) word increase in delayed recall score, indicating better memory function (all p < 0.05). Neighborhood characteristics were not associated with WMH. We did not find evidence that DNA methylation mediates the observed associations between neighborhood characteristics and cognitive function.ConclusionsThe presence of fast food destinations and unfavorable food stores with alcohol was associated cognitive measures, possibly due to greater social interaction provided in these venues. However, replication of these findings is necessary. Further examination of the potential pathways between the neighborhood environment and cognitive function/WMH may allow the development of potential behavioral, infrastructural, and pharmaceutical interventions to facilitate aging in place and healthy brain aging in older adults, especially in marginal populations that are most at risk.

Antidopaminergic medications in Huntington's disease

Huntington's disease (HD) is a progressive neurodegenerative disorder marked by motor, cognitive, and behavioral impairments. Antidopaminergic medications (ADMs), such as VMAT2 inhibitors and antipsychotics, are commonly used to manage HD motor disturbances and behavioral disorders. For patients and caregivers, ADMs are an important tool for managing symptoms that negatively affect daily life. However, the impact of ADM use in HD is not firmly understood due to a lack of robust, systematic studies that assessed their overall effect on HD disease. A mounting body of evidence suggests these medications may be associated with worse clinical measures of cognitive function and functional impairment. While regulatory guidelines highlight adverse effects like sedation, cognitive dysfunction, and extrapyramidal symptoms, it is unclear whether ADMs directly impact disease progression or if the side effects mimic or exacerbate measures of HD symptoms in clinical trials. Given ADM effects on the central nervous system and biological uncertainty within HD outcomes, clinical trial designs should recognize the impact of ADMs on key outcomes, as measured by acceptable scales including Total Functional Capacity, Stoop Word Reading, Symbol Digit Modality Test, and the composite Unified Huntington's Disease Rating Scale. The development of novel HD interventions requires consideration of concomitant ADM use that may influence measures of disease presentation. In this review, we highlight the role of ADMs in HD management, their symptomatic benefits and potential risks, especially with high dose associated side effects, interactions with CYP2D6 inhibitors, and the individualized need for careful dose monitoring for clinical care and trial design.

Functional performance and symptomatology of adults with skeletal dysplasia across self-care, mobility, and cognition – a cross-sectional study

Abstract Purpose Individuals with skeletal dysplasia (SD) experience physical challenges in performing everyday activities as a result of their altered biomechanics and systemic comorbidities. The purpose of this study was to objectively assess functional performance and identify symptomatology across self-care, mobility, and cognitive tasks amongst adults with SD. The secondary aim was to describe any differences in performance between individuals with proportionate forms of SD compared to those with disproportionate forms. Methods A cross-sectional online survey and functional assessment, the Functional Independence Measure, was administered to adults diagnosed with SD. Summary statistics were computed and analysed. Survey open-ended text responses were examined. Results Data was collected on 40 adults (median age 41.2 years) presenting with ten types of SD (14 with proportionate SD, 26 disproportionate SD). Thirty-nine (97.5%) participants required assistance or modification when completing functional activities. Increased reliance on assistance was observed across self-care and mobility tasks (median FIM scores 51/56 and 31.5/35 respectively), compared to cognitive items (median FIM score 34.5/35). Up to 50% of participants reported experiencing pain, fatigue, and/or other symptoms during self-care and mobility tasks. These symptoms were more prevalent when completing self-care activities at home and when mobilising in the community. Participants with proportionate forms of skeletal dysplasia demonstrated higher levels of independence in upper body dressing, toileting, and bed/chair/wheelchair transfers, whereas participants with disproportionate forms had higher scores in eating and grooming tasks. Conclusions Adults with SD demonstrated functional challenges and symptomatology associated with activities of daily living. Overall, there are minimal differences in FIM scores between individuals with proportionate forms of SD and those with disproportionate forms. Use of assistive equipment, modifications, and allowing extra time with tasks may improve independence amongst this population group.

Functional mobility and depression negatively impact quality of life in older adults with stroke

Background The quality of life (QoL) in elderly post-stroke patients may deteriorate due to an interplay of physical and psychological impairments, compounded by social challenges stemming from these issues. Objective This study aimed to identify predictors of QoL in elderly post-stroke patients by evaluating their functional capabilities, depressive symptoms, and levels of social support. Methods A cohort of 122 individuals aged 65 and older, who had experienced a stroke, was assessed. Functional independence was gauged using the Functional Independence Measure (FIM), depressive states were evaluated with the Geriatric Depression Scale (GDS), and social support was quantified through the Social Support Scale (SSS). The WHOQOL-BREF questionnaire was employed to measure QoL. Results The FIM and GDS scores were significant predictors for WHOQOL-BREF domains 1 and 2 (adjusted R² = 0.522, p &lt; 0.01; and adjusted R² = 0.586, p &lt; 0.01, respectively). GDS alone was a significant predictor for domain 3 (adjusted R² = 0.236, p &lt; 0.01), while all variables were significant predictors for domain 4 (adjusted R² = 0.315, p &lt; 0.01). Conclusions Depression, motor function, and social support were identified as the primary predictors of QoL in elderly individuals after suffering a stroke.

Comparison of tibiofibular syndesmosis stability following treatment of proximal, middle, and distal third fibula fractures

PurposeWhile treatment modalities for Maisonneuve fractures involving the proximal third of the fibula are established, no studies to date have reported outcomes associated with syndesmotic-only fixation of middle third fibular shaft fractures. The purpose of this study was to evaluate outcomes associated with syndesmotic-only fixation in the treatment of Maisonneuve fractures involving the middle third of the fibula.MethodsA retrospective review was conducted on 257 cases of syndesmotic ankle instability with associated fibular fractures at a level 1 trauma center between 2013 and 2023. Patients were divided into cohorts based on fibular fracture location in the proximal, middle, or distal third of the fibula. The Chi-square test of independence, two-sample t-test, and analysis of variance were used to compare outcome measures between cohorts.ResultsSixty-six patients were identified including 48% (n = 32) with proximal third fibular fractures, 20% (n = 13) with middle third fibular fractures, and 32% (n = 21) with distal third fibular fractures. Rates of infection, loss of reduction, wound healing complications, and reoperation did not vary significantly between cohorts. Functional outcome measures including range of motion, time to weight-bearing, and tibiofibular/medial clear space measurements at final follow-up were similar across cohorts.ConclusionPatients with Maisonneuve fractures involving the middle third of the fibula demonstrated positive outcomes with syndesmotic fixation alone, with no documented cases of infection, loss of reduction, or wound healing issues. By demonstrating maintenance of anatomic reduction and low rates of complications, our results support the use of syndesmotic-only fixation in the treatment of middle third Maisonneuve fractures.