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1.
Sensors (Basel) ; 24(8)2024 Apr 18.
Artigo em Inglês | MEDLINE | ID: mdl-38676203

RESUMO

FXTAS is a neurodegenerative disorder occurring in some Fragile X Messenger Ribonucleoprotein 1 (FMR1) gene premutation carriers (PMCs) and is characterized by cerebellar ataxia, tremor, and cognitive deficits that negatively impact balance and gait and increase fall risk. Dual-tasking (DT) cognitive-motor paradigms and challenging balance conditions may have the capacity to reveal markers of FXTAS onset. Our objectives were to determine the impact of dual-tasking and sensory and stance manipulation on balance in FXTAS and potentially detect subtle postural sway deficits in FMR1 PMCs who are asymptomatic for signs of FXTAS on clinical exam. Participants with FXTAS, PMCs without FXTAS, and controls underwent balance testing using an inertial sensor system. Stance, vision, surface stability, and cognitive demand were manipulated in 30 s trials. FXTAS participants had significantly greater total sway area, jerk, and RMS sway than controls under almost all balance conditions but were most impaired in those requiring vestibular control. PMCs without FXTAS had significantly greater RMS sway compared with controls in the feet apart, firm, single task conditions both with eyes open and closed (EC) and the feet together, firm, EC, DT condition. Postural sway deficits in the RMS postural sway variability domain in asymptomatic PMCs might represent prodromal signs of FXTAS. This information may be useful in providing sensitive biomarkers of FXTAS onset and as quantitative balance measures in future interventional trials and longitudinal natural history studies.


Assuntos
Ataxia , Síndrome do Cromossomo X Frágil , Equilíbrio Postural , Tremor , Humanos , Síndrome do Cromossomo X Frágil/genética , Síndrome do Cromossomo X Frágil/fisiopatologia , Tremor/genética , Tremor/fisiopatologia , Equilíbrio Postural/fisiologia , Masculino , Pessoa de Meia-Idade , Feminino , Ataxia/genética , Ataxia/fisiopatologia , Idoso , Biomarcadores , Proteína do X Frágil da Deficiência Intelectual/genética , Proteína do X Frágil da Deficiência Intelectual/metabolismo , Adulto , Sintomas Prodrômicos
2.
medRxiv ; 2024 Feb 15.
Artigo em Inglês | MEDLINE | ID: mdl-38405987

RESUMO

Alzheimer's disease (AD) prevalence has increased in the last century which can be attributed to increased lifespan, but environment is also important. This study evaluated the relationship between outdoor nighttime light exposure and AD prevalence in the United States. Higher outdoor nighttime light was associated with higher prevalence of AD. While atrial fibrillation, diabetes, hyperlipidemia, hypertension, and stroke were associated more strongly with AD prevalence than nighttime light intensity, nighttime light was more strongly associated with AD prevalence than alcohol abuse, chronic kidney disease, depression, heart failure, and obesity. Startlingly, nighttime light exposure more strongly associated with AD prevalence in those under the age of 65 than any other disease factor examined. These data indicate a need to investigate how nighttime light exposure influences AD pathogenesis.

3.
Parkinsonism Relat Disord ; 113: 105492, 2023 08.
Artigo em Inglês | MEDLINE | ID: mdl-37385161

RESUMO

BACKGROUND: Lewy Body Disease (LBD) is the second most common neurodegenerative disorder. Despite high family caregiver strain and adverse patient and caregiver outcomes, few interventions exist for LBD family caregivers. Based on a successful peer mentoring pilot study in advanced Parkinson's Disease, we revised the curriculum of this peer-led educational intervention incorporating LBD caregiver input. OBJECTIVE: We assessed feasibility of a peer mentor-led educational intervention and its impact on LBD family caregivers' knowledge, dementia attitudes, and mastery. METHODS: Using community-based participatory research, we refined a 16-week peer mentoring intervention and recruited caregivers online through national foundations. Experienced LBD caregiver mentors were trained and matched with newer caregiver mentees with whom they spoke weekly for 16 weeks, supported by the intervention curriculum. We measured intervention fidelity biweekly, program satisfaction, and change in LBD knowledge, dementia attitudes, and caregiving mastery before and after the 16-week intervention. RESULTS: Thirty mentor-mentee pairs completed a median of 15 calls (range: 8-19; 424 total calls; median 45 min each). As satisfaction indicators, participants rated 95.3% of calls as useful, and at week 16, all participants indicated they would recommend the intervention to other caregivers. Mentees' knowledge and dementia attitudes improved by 13% (p < 0.05) and 7% (p < 0.001), respectively. Training improved mentors' LBD knowledge by 32% (p < 0.0001) and dementia attitudes by 2.5% (p < 0.001). Neither mentor nor mentee mastery changed significantly (p = 0.36, respectively). CONCLUSIONS: This LBD caregiver-designed and -led intervention was feasible, well-received, and effective in improving knowledge and dementia attitudes in both seasoned and newer caregivers. TRIAL REGISTRATION: https://clinicaltrials.gov/ct2/show/NCT04649164ClinicalTrials.gov Identifier: NCT04649164; December 2, 2020.


Assuntos
Doença por Corpos de Lewy , Mentores , Humanos , Cuidadores , Projetos Piloto , Aprendizagem
4.
Nat Commun ; 14(1): 926, 2023 02 18.
Artigo em Inglês | MEDLINE | ID: mdl-36801916

RESUMO

A pro-inflammatory intestinal microbiome is characteristic of Parkinson's disease (PD). Prebiotic fibers change the microbiome and this study sought to understand the utility of prebiotic fibers for use in PD patients. The first experiments demonstrate that fermentation of PD patient stool with prebiotic fibers increased the production of beneficial metabolites (short chain fatty acids, SCFA) and changed the microbiota demonstrating the capacity of PD microbiota to respond favorably to prebiotics. Subsequently, an open-label, non-randomized study was conducted in newly diagnosed, non-medicated (n = 10) and treated PD participants (n = 10) wherein the impact of 10 days of prebiotic intervention was evaluated. Outcomes demonstrate that the prebiotic intervention was well tolerated (primary outcome) and safe (secondary outcome) in PD participants and was associated with beneficial biological changes in the microbiota, SCFA, inflammation, and neurofilament light chain. Exploratory analyses indicate effects on clinically relevant outcomes. This proof-of-concept study offers the scientific rationale for placebo-controlled trials using prebiotic fibers in PD patients. ClinicalTrials.gov Identifier: NCT04512599.


Assuntos
Microbioma Gastrointestinal , Doença de Parkinson , Humanos , Prebióticos , Fezes , Ácidos Graxos Voláteis/metabolismo
5.
Parkinsonism Relat Disord ; 106: 105222, 2023 01.
Artigo em Inglês | MEDLINE | ID: mdl-36446676

RESUMO

INTRODUCTION: Family caregivers of people with advanced Parkinson's Disease (PD) are at high risk of caregiver strain, which independently predicts adverse patient outcomes. We tested the effects of one year of interdisciplinary, telehealth-enhanced home visits (IN-HOME-PD) with 16 weeks of peer mentoring on caregiver strain compared with usual care. METHODS: We enrolled homebound people with advanced PD (PWPD) and their primary caregiver as IN-HOME-PD dyads. We trained experienced PD family caregivers as peer mentors. Dyads received four structured home visits focused on advanced symptom management, home safety, medications, and psychosocial needs. Starting at approximately four months, caregivers spoke weekly with a peer mentor for 16 weeks. We compared one-year change in caregiver strain (MCSI, range 0-72) with historical controls, analyzed intervention acceptability, and measured change in anxiety, depression, and self-efficacy. RESULTS: Longitudinally, IN-HOME-PD caregiver strain was unchanged (n = 51, 23.34 (SD 9.43) vs. 24.32 (9.72), p = 0.51) while that of controls worsened slightly (n = 154, 16.45 (10.33) vs. 17.97 (10.88), p = 0.01). Retention in peer mentoring was 88.2%. Both mentors and mentees rated 100% of mentoring calls useful, with mean satisfaction of 91/100 and 90/100, respectively. There were no clinically significant improvements in anxiety, depression, or self-efficacy. CONCLUSIONS: Interdisciplinary telehealth-enhanced home visits combined with peer mentoring mitigated the worsening strain observed in caregivers of less advanced individuals. Mentoring was met with high satisfaction. Future caregiver-led peer mentoring interventions are warranted given the growing, unmet needs of PD family caregivers. TRIAL REGISTRATION: NCT03189459.


Assuntos
Tutoria , Doença de Parkinson , Humanos , Cuidadores/psicologia , Visita Domiciliar , Mentores , Doença de Parkinson/psicologia , Qualidade de Vida
6.
Front Neurol ; 14: 1308698, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-38162443

RESUMO

Background: Fragile X-associated tremor/ataxia syndrome (FXTAS), a neurodegenerative disease that affects carriers of a 55-200 CGG repeat expansion in the fragile X messenger ribonucleoprotein 1 (FMR1) gene, may be given an incorrect initial diagnosis of Parkinson's disease (PD) or essential tremor (ET) due to overlapping motor symptoms. It is critical to characterize distinct phenotypes in FXTAS compared to PD and ET to improve diagnostic accuracy. Fast as possible (FP) speed and dual-task (DT) paradigms have the potential to distinguish differences in gait performance between the three movement disorders. Therefore, we sought to compare FXTAS, PD, and ET patients using quantitative measures of functional mobility and gait under self-selected (SS) speed, FP, and DT conditions. Methods: Participants with FXTAS (n = 22), PD (n = 23), ET (n = 20), and controls (n = 20) underwent gait testing with an inertial sensor system (APDM™). An instrumented Timed Up and Go test (i-TUG) was used to measure movement transitions, and a 2-min walk test (2MWT) was used to measure gait and turn variables under SS, FP, and DT conditions, and dual-task costs (DTC) were calculated. ANOVA and multinomial logistic regression analyses were performed. Results: PD participants had reduced stride lengths compared to FXTAS and ET participants under SS and DT conditions, longer turn duration than ET participants during the FP task, and less arm symmetry than ET participants in SS gait. They also had greater DTC for stride length and velocity compared to FXTAS participants. On the i-TUG, PD participants had reduced sit-to-stand peak velocity compared to FXTAS and ET participants. Stride length and arm symmetry index during the DT 2MWT was able to distinguish FXTAS and ET from PD, such that participants with shorter stride lengths were more likely to have a diagnosis of PD and those with greater arm asymmetry were more likely to be diagnosed with PD. No gait or i-TUG parameters distinguished FXTAS from ET participants in the regression model. Conclusion: This is the first quantitative study demonstrating distinct gait and functional mobility profiles in FXTAS, PD, and ET which may assist in more accurate and timely diagnosis.

7.
Parkinsonism Relat Disord ; 102: 68-76, 2022 09.
Artigo em Inglês | MEDLINE | ID: mdl-35963046

RESUMO

INTRODUCTION: Homebound individuals with advanced Parkinson's disease (PD) are underrepresented in research and care. We tested the impact of interdisciplinary, telehealth-enhanced home visits (IN-HOME-PD) on patient quality of life (QoL) compared with usual care. METHODS: Nonrandomized controlled trial of quarterly, structured, telehealth-enhanced interdisciplinary home visits focused on symptom management, home safety, medication reconciliation, and psychosocial needs (ClinicalTrials.gov NCT03189459). We enrolled homebound participants with advanced PD (Hoehn & Yahr (HY) stage ≥3). Usual care participants had ≥2 visits in the Parkinson's Outcomes Project (POP) registry. We compared within- and between-group one-year change in QoL using the Parkinson's Disease Questionnaire. RESULTS: Sixty-five individuals enrolled in IN-HOME-PD (32.3% women; mean age 78.9 (SD 7.6) years; 74.6% white; 78.5% HY ≥ 4) compared with 319 POP controls, with differences in age, race, and PD severity (37.9% women; mean age 70.1 (7.8) years; 96.2% white; 15.1% HY ≥ 4). Longitudinally, the intervention group's QoL remained unchanged (within-group p = 0.74, Cohen's d = 0.05) while QoL decreased over time in POP controls (p < 0.001, Cohen's d = 0.27). The difference favored the intervention (between-group p = 0.04). POP participants declined in 7/8 dimensions while IN-HOME-PD participants' bodily discomfort improved and hospice use and death at home-markers of goal-concordant care-far exceeded national data. CONCLUSIONS: Telehealth-enhanced home visits can stabilize and may improve the predicted QoL decline in advanced PD via continuity of care and facilitating goal-concordant care, particularly among diverse populations. Extrapolating features of this model may improve continuity of care and outcomes in advanced PD.


Assuntos
Pacientes Domiciliares , Doença de Parkinson , Telemedicina , Idoso , Criança , Feminino , Visita Domiciliar , Humanos , Masculino , Doença de Parkinson/psicologia , Doença de Parkinson/terapia , Qualidade de Vida/psicologia
8.
Parkinsonism Relat Disord ; 101: 39-42, 2022 08.
Artigo em Inglês | MEDLINE | ID: mdl-35780693

RESUMO

Caregivers are integral to the care of those with neurological disorders such as Parkinson's Disease (PD), but are often burdened by stress, anxiety, and depression. Previous research has suggested that the foundation of such stress is low-grade systemic inflammation, as evidenced by increased interleukin 6 (IL-6) and C-reactive protein (CRP) levels. Soluble urokinase-type plasminogen activator receptor (suPAR) is a kidney disease risk factor and marker of chronic inflammation that integrates psycho-social stress and organ dysfunction. Caregivers of PD experience an extraordinary amount of stress and suPAR's role as prognostic marker has not yet been assessed in caregivers of PD. The aim of this study was to determine the relationship between suPAR levels and PD caregiver burden. Healthy volunteers who accompanied patients with parkinsonism (n = 35) donated blood samples, and complete blood counts (CBC), CRP, and suPAR levels were measured. Participants were then interviewed by telephone and stratified into primary and non-primary caregiver groups. Their caregiver burden was quantified through the Zarit Caregiver Burden Short Form (ZBI-12). The resultant data demonstrated higher plasma levels of suPAR and ZBI-12 scores for the primary caregiver group relative to the non-primary caregiver group (suPAR level: 3.73 vs. 2.72 ng/mL, p = 0.01; ZBI-12: 18.57 vs. 5.4, p < 0.0001; Table). The data also revealed a moderate positive correlation between suPAR and ZBI-12 scores. These findings not only demonstrate a correlation between elevated suPAR and caregiving burden in PD, but also further support and raise awareness for the overall psychosocial burden and stress experienced by those caregivers.


Assuntos
Cuidadores , Receptores de Ativador de Plasminogênio Tipo Uroquinase , Biomarcadores/metabolismo , Humanos , Inflamação , Transtornos Parkinsonianos , Receptores de Ativador de Plasminogênio Tipo Uroquinase/metabolismo
9.
Neurol Ther ; 11(3): 1309-1318, 2022 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-35776383

RESUMO

INTRODUCTION: Directional deep brain stimulation (d-DBS) axially displaces the volume of tissue activated (VTA) towards the intended target and away from neighboring structures potentially improving benefit and reducing side effects (SE) of stimulation. A clinical trial evaluating d-DBS demonstrated a wider therapeutic window (TW) with directional electrodes. While this seems advantageous, it remains unclear when and why directional stimulation is chosen clinically. To evaluate the implementation of d-DBS in our practice we examined the prevalence of and motivation for directional programming. METHODS: A retrospective review was completed in consecutive patients with Parkinson's disease (PD)/essential tremor (ET) implanted with the Abbott Infinity system from December 2016 to January 2020. At 3, 12, 24, and 36 months we extracted post-DBS stimulation parameters; use of directional electrodes and other advanced programming techniques; and reasons for directional programming. RESULTS: Fifty-six patients with PD and 18 patients with ET (104 and 33 leads, respectively) were identified. The numbers of patients programmed with a directional electrode in at least one DBS lead in PD and ET, respectively, were 22/56 (39%) and 13/18 (72%) at 3 months; 19/48 (40%) and 8/12 (67%) at 12 months; 12/31 (39%) and 5/8 (63%) at 24 months; and 6/9 (67%) and 1/2 (50%) at 36 months. In PD and ET, reasons for using directional stimulation were better symptom control, less SE, or combination of better symptom control/SE; additional reasons in ET were improved battery/TW%. CONCLUSION: Over a 36-month time period 39-68% of patients with PD and 50-72% of patients with ET had at least one lead programmed directionally in order to either improve symptom control or reduce side effects, an option not available with conventional omnidirectional stimulation. Initially directional electrodes were used in ET more frequently than PD, likely because of the less complex nature of programming for a monosymptomatic disorder. However, over time this shifted as we gained directional experience and sought solutions to reduce worsening symptoms.

11.
BMC Med Educ ; 22(1): 506, 2022 Jun 28.
Artigo em Inglês | MEDLINE | ID: mdl-35761252

RESUMO

BACKGROUND: Individuals with advanced Parkinson's Disease (PD) and Parkinson-related disorders (PRD) are frequently referred for home allied therapies and nursing care, yet home healthcare professionals have limited training in PD/PRD. While recognizing the need for such care, patients and families report home healthcare professionals are unfamiliar with these conditions, which may be driven by neurophobia and may contribute to suboptimal care and early termination of services. We sought to determine the feasibility and effects of a virtual, multimodal educational intervention on PD knowledge, confidence, and empathy among home health professionals. METHODS: Home health nurses, occupational therapists, physical therapists and physical therapy assistants, and speech-language pathologists participated in a daylong, virtual symposium on advanced PD/PRD, combining focused lectures, discipline-specific breakout sessions, immersive virtual reality vignettes, and interactive panels with both patients and families, and movement disorders and home healthcare experts. Participants completed online pre- and post-symposium surveys including: demographics; PD/PRD knowledge (0-10 points possible); empathy (Interpersonal Reactivity Index); and 10-point scales of confidence with and attitudes towards individuals with PD/PRD, respectively. Pre-post intervention changes and effect sizes were evaluated with paired t-tests and Cohen's d. We performed qualitative analyses of post-symposium free-text feedback using a grounded theory approach to identify participants' intentions to change their practice. RESULTS: Participants had a mean improvement of 3.1 points on the PD/PRD knowledge test (p < 0.001, d = 1.97), and improvement in confidence managing individuals with PD/PRD (p = 0.0003, d = .36), and no change in empathy. The interactive, virtual format was rated as effective by 95%. Common themes regarding symposium-motivated practice change included: interdisciplinary collaboration; greater involvement and weighting of the patient and caregiver voice in care plans; attention to visit scheduling in relation to patient function; recognition and practical management of the causes of sudden change in PD/PRD, including infections and orthostatic hypotension. CONCLUSIONS: A virtual, multimodal, brief educational pilot intervention improved PD/PRD-specific knowledge and confidence among home healthcare nurses and allied health professionals. Future studies are necessary to test the short- and long-term effects of this intervention more broadly and to investigate the impact of this education on patient and caregiver outcomes.


Assuntos
Doença de Parkinson , Fisioterapeutas , Atenção à Saúde , Estudos de Viabilidade , Humanos , Doença de Parkinson/terapia , Projetos Piloto
13.
J Crit Care ; 70: 154049, 2022 08.
Artigo em Inglês | MEDLINE | ID: mdl-35490501

RESUMO

PURPOSE: Whether systolic blood pressure (SBP) is reliable in acute spontaneous intracerebral (sICH) by assessing agreement between simultaneous BP measurements obtained from cuff non-invasive blood pressure (NIBP) and radial arterial invasive blood pressure (AIBP) devices. MATERIAL AND METHODS: Among 766 prospectively screened sICH subjects, 303 (39.5%) had NIBP and AIBP measurements. During the first 24 h, 2157 simultaneous paired measurement readings were abstracted. Paired NIBP/AIBP measurements were included in a Bland-Altman technique with 95% agreement limits and coefficients from regression analysis derived from a bootstrap procedure. RESULTS: Variance for SBP was 66.1 mmHg, which was larger than the 44.3 mg Hg for diastolic blood pressure (DBP) or the 46.1 mmHg for mean arterial pressure (MAP). Pairwise comparison of mean biases showed a significant difference between SBP when compared to DBP (p < 0.0001) or MAP (p < 0.0001). The mean bias between DBP and MAP was not different (p = 0.68). Regression-based Bland Altman analysis found significant bias (slope -0.16, 95% CI -0.23, -0.09, p < 0.05) over the range of mean SBP. Bias over the range of mean DBP or MAP was not significant. CONCLUSIONS: We concluded that SBP is an unreliable blood pressure measurement in patients with sICH.


Assuntos
Pressão Arterial , Determinação da Pressão Arterial , Pressão Arterial/fisiologia , Pressão Sanguínea/fisiologia , Determinação da Pressão Arterial/métodos , Hemorragia Cerebral/diagnóstico , Humanos , Artéria Radial
14.
JMIR Res Protoc ; 11(5): e34750, 2022 May 26.
Artigo em Inglês | MEDLINE | ID: mdl-35481819

RESUMO

BACKGROUND: Homebound individuals with advanced Parkinson disease (PD) require intensive caregiving, the majority of which is provided by informal, family caregivers. PD caregiver strain is an independent risk factor for institutionalization. There are currently no effective interventions to support advanced PD caregivers. Studies in other neurologic disorders, however, have demonstrated the potential for peer mentoring interventions to improve caregiver outcomes. In the context of an ongoing trial of interdisciplinary home visits, we designed and piloted a nested trial of caregiver peer mentoring for informal caregivers of individuals with advanced PD. OBJECTIVE: The aim of this study was to test the feasibility of peer mentoring for caregivers of homebound individuals with advanced PD and to evaluate its effects on anxiety, depression, and caregiver strain. METHODS: This was a single-center, 16-week pilot study of caregiver peer mentoring nested within a year-long controlled trial of interdisciplinary home visits. We recruited 34 experienced former or current family caregivers who completed structured mentor training. Caregivers enrolled in the larger interdisciplinary home visit trial consented to receive 16 weeks of weekly, one-to-one peer mentoring calls with a trained peer mentor. Weekly calls were guided by a curriculum on advanced PD management and caregiver support. Fidelity to and satisfaction with the intervention were gathered via biweekly study diaries. Anxiety, depression, and caregiver strain were measured pre- and postmentoring intervention at home visits 2 and 3. RESULTS: Enrollment and peer-mentor training began in 2018, and 65 caregivers enrolled in the overarching trial. The majority of mentors and mentees were White, female spouses or partners of individuals with PD; mentors had a mean of 8.7 (SD 6.4) years of caregiving experience, and 33 mentors were matched with at least 1 mentee. CONCLUSIONS: This is the first study of caregiver peer mentoring in PD and may establish an adaptable and sustainable model for disease-specific caregiver interventions in PD and other neurodegenerative diseases. TRIAL REGISTRATION: ClinicalTrials.gov NCT03189459; http://clinicaltrials.gov/ct2/show/NCT03189459. INTERNATIONAL REGISTERED REPORT IDENTIFIER (IRRID): DERR1-10.2196/34750.

15.
Neurol Sci ; 43(7): 4355-4361, 2022 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-35262829

RESUMO

PURPOSE: Inattentional blindness refers to when an individual fails to recognize an event or object due to their awareness being engaged in a different task and has been described in radiology. The purpose of this study is to determine whether the sensitivity of detecting diffusion-weighted imaging (DWI) lesions in spontaneous intracerebral hemorrhage (sICH) is reduced due to inattentional blindness. METHODS: Using a prospective observational cohort, select sICH patients received an MRI scan within 72 h of admission. The scans were subject to an "official read" that occurred as part of the routine workflow. Separately, each scan underwent two "preliminary research reads" with task-specific instructions to detect DWI lesions. A "final research read" via three-party adjudication was used to calculate sensitivity and specificity for detecting these lesions. Board-certified neuroradiologists blinded to the clinical history of the patients reviewed all imaging. RESULTS: Amongst 121 sICH participants with research MRI scans, 49.6% (n = 60) scans were noted to have DWI lesion on their "final research read." The "official read" detected these DWI lesions with a sensitivity of 65% (95% CI, 52-77%). In contrast, the "preliminary research read" sensitivity for readers 1 and 2 was 98% (CI 95%, 91 to 100%) and 87% (CI 95%, 75 to 94%), respectively. Both were significantly different (p < 0.05) from the sensitivity of the "official read." CONCLUSIONS: Given the increased sensitivity with task-specific instructions, our results suggest that inattentional blindness may be leading to the decreased detection of DWI lesions in patients with concomitant sICH.


Assuntos
Hemorragia Cerebral , Imagem de Difusão por Ressonância Magnética , Cegueira , Hemorragia Cerebral/complicações , Hemorragia Cerebral/diagnóstico por imagem , Imagem de Difusão por Ressonância Magnética/métodos , Humanos , Imageamento por Ressonância Magnética , Sensibilidade e Especificidade
16.
Ann Neurol ; 91(3): 424-435, 2022 03.
Artigo em Inglês | MEDLINE | ID: mdl-34984729

RESUMO

OBJECTIVE: This study was undertaken to compare the rate of change in cognition between glucocerebrosidase (GBA) mutation carriers and noncarriers with and without subthalamic nucleus deep brain stimulation (STN-DBS) in Parkinson disease. METHODS: Clinical and genetic data from 12 datasets were examined. Global cognition was assessed using the Mattis Dementia Rating Scale (MDRS). Subjects were examined for mutations in GBA and categorized as GBA carriers with or without DBS (GBA+DBS+, GBA+DBS-), and noncarriers with or without DBS (GBA-DBS+, GBA-DBS-). GBA mutation carriers were subcategorized according to mutation severity (risk variant, mild, severe). Linear mixed modeling was used to compare rate of change in MDRS scores over time among the groups according to GBA and DBS status and then according to GBA severity and DBS status. RESULTS: Data were available for 366 subjects (58 GBA+DBS+, 82 GBA+DBS-, 98 GBA-DBS+, and 128 GBA-DBS- subjects), who were longitudinally followed (range = 36-60 months after surgery). Using the MDRS, GBA+DBS+ subjects declined on average 2.02 points/yr more than GBA-DBS- subjects (95% confidence interval [CI] = -2.35 to -1.69), 1.71 points/yr more than GBA+DBS- subjects (95% CI = -2.14 to -1.28), and 1.49 points/yr more than GBA-DBS+ subjects (95% CI = -1.80 to -1.18). INTERPRETATION: Although not randomized, this composite analysis suggests that the combined effects of GBA mutations and STN-DBS negatively impact cognition. We advise that DBS candidates be screened for GBA mutations as part of the presurgical decision-making process. We advise that GBA mutation carriers be counseled regarding potential risks associated with STN-DBS so that alternative options may be considered. ANN NEUROL 2022;91:424-435.


Assuntos
Cognição/fisiologia , Estimulação Encefálica Profunda/métodos , Glucosilceramidase/genética , Heterozigoto , Doença de Parkinson/terapia , Núcleo Subtalâmico/fisiopatologia , Idoso , Bases de Dados Factuais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Mutação , Testes Neuropsicológicos , Doença de Parkinson/genética , Doença de Parkinson/fisiopatologia , Doença de Parkinson/psicologia
17.
Gait Posture ; 90: 112-119, 2021 10.
Artigo em Inglês | MEDLINE | ID: mdl-34438292

RESUMO

OBJECTIVE: Reference values utilizing the APDM MobilityLab® inertial sensor system have not been established in children and young adults ages 5-30. These values are necessary for clinicians and researchers to compare to children with balance impairments. METHODS: A group of 144 typically developing children and young adults from age 5-30 years completed the instrumented SWAY test during 6 test conditions: normal stance, firm surface, eyes open (EO) and closed (EC); normal stance, foam surface, EO and EC; and tandem stance, firm surface, EO and EC. Selected variables for normative outcomes included total sway area, and the mean, sagittal and coronal values for RMS sway, jerk, sway velocity and path length. Sex differences were examined within age groups via t tests. The effect of age on postural sway variables was analyzed using a one-way ANOVA for the mean values of total sway area, RMS sway, velocity and jerk, followed by post-hoc pairwise comparisons. RESULTS: All sway parameters decreased significantly with age (p < 0.0001). Adult-like total sway area and jerk were achieved by ages 9-10 except for jerk during EC on foam. RMS sway and sway velocity reached adult levels by ages 11-13 during all EO and tandem stance conditions, and 14-21 with EC during normal stance on firm and foam surfaces for RMS sway and EC on firm surfaces for velocity. Females ages 5-6 performed more poorly during EO firm and EC foam for certain variables, but better during EO tandem and females ages 7-13 outperformed males when sex differences were found. SIGNIFICANCE: These reference values can now be used by clinicians and researchers to evaluate abnormal postural sway and response to interventions in children and young adults.


Assuntos
Equilíbrio Postural , Adolescente , Adulto , Criança , Pré-Escolar , Bases de Dados Factuais , Feminino , Humanos , Masculino , Valores de Referência , Adulto Jovem
18.
JMIR Res Protoc ; 10(9): e31690, 2021 Sep 14.
Artigo em Inglês | MEDLINE | ID: mdl-34238753

RESUMO

BACKGROUND: The current understanding of advanced Parkinson disease (PD) and its treatment is largely based on data from outpatient visits. The most advanced and disabled individuals with PD are disconnected from both care and research. A previous pilot study among older, multimorbid patients with advanced PD demonstrated the feasibility of interdisciplinary home visits to reach the target population, improve care quality, and potentially avoid institutionalization. OBJECTIVE: The aim of this study protocol is to investigate whether interdisciplinary home visits can prevent a decline in quality of life of patients with PD and prevent worsening of caregiver strain. The protocol also explores whether program costs are offset by savings in health care utilization and institutionalization compared with usual care. METHODS: In this single-center, controlled trial, 65 patient-caregiver dyads affected by advanced PD (Hoehn and Yahr stages 3-5 and homebound) are recruited to receive quarterly interdisciplinary home visits over 1 year. The 1-year intervention is delivered by a nurse and a research coordinator, who travel to the home, and it is supported by a movement disorder specialist and social worker (both present by video). Each dyad is compared with age-, sex-, and Hoehn and Yahr stage-matched control dyads drawn from US participants in the longitudinal Parkinson's Outcome Project registry. The primary outcome measure is the change in patient quality of life between baseline and 1 year. Secondary outcome measures include changes in Hoehn and Yahr stage, caregiver strain, self-reported fall frequency, emergency room visits, hospital admissions, and time to institutionalization or death. Intervention costs and changes in health care utilization will be analyzed in a budget impact analysis to explore the potential for model adaptation and dissemination. RESULTS: The protocol was funded in September 2017 and approved by the Rush Institutional Review Board in October 2017. Recruitment began in May 2018 and closed in November 2019 with 65 patient-caregiver dyads enrolled. All study visits have been completed, and analysis is underway. CONCLUSIONS: To our knowledge, this is the first controlled trial to investigate the effects of interdisciplinary home visits among homebound individuals with advanced PD and their caregivers. This study also establishes a unique cohort of patients from whom we can study the natural course of advanced PD, its treatments, and unmet needs. TRIAL REGISTRATION: ClinicalTrials.gov NCT03189459; http://clinicaltrials.gov/ct2/show/NCT03189459. INTERNATIONAL REGISTERED REPORT IDENTIFIER (IRRID): PRR1-10.2196/31690.

19.
J Stroke Cerebrovasc Dis ; 30(8): 105871, 2021 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-34102555

RESUMO

INTRODUCTION: Although mechanical thrombectomy (MT) is a proven therapy for acute large vessel occlusion strokes, futile recanalization in the elderly is common and costly. Strategies to minimize futile recanalization may reduce unnecessary thrombectomy transfers and procedures. We evaluated whether a simple and rapid visual assessment of brain atrophy and leukoaraiosis on a plain head CT correlates with futile stroke recanalization in the elderly. METHODS: Consecutive stroke patients admitted for thrombectomy, older than 65 years of age, all with TICI 2b/3 recanalization rates were retrospectively studied from multiple comprehensive stroke centers. Brain atrophy and leukoaraiosis were visually analyzed from pre-intervention plain head CTs using a simplified scheme based on validated scales. Baseline demographics were collected and the primary outcome measure was 90-day modified Rankin score (mRS). Cochran-Armitage trend test was applied in analyzing the association of the severity of brain atrophy and leukoaraiosis with 90-day mRS. RESULTS: Between 2017 and 2019, 175 patients > 65 years who underwent thrombectomy with TICI 2b/3 recanalization from two comprehensive stroke centers were evaluated. The median age was 77 years. IV-tPA was given in 59% of patients, average initial NIHSS was 19, average baseline mRS was 0.77 and median time to recanalization was 300 minutes. Age and severity of atrophy/leukoaraiosis was categorized into three groups of increasing severity and associated with 90 day mRS 0-3 rates of 62%, 49% and 41% (p=0.037) respectively. CONCLUSIONS: A simplified, visual assessment of the degree of brain atrophy and leukoaraiosis measured on plain head CT correlates with futile recanalization in patients age >65 years. Although additional validation is needed, these findings suggest that brain atrophy and leukoaraiosis may have value as a surrogate marker of prestroke functional status. In doing so, simplified visual plain head CT grading scales may minimize elderly futile recanalization.


Assuntos
Encéfalo/diagnóstico por imagem , AVC Isquêmico/terapia , Leucoaraiose/diagnóstico por imagem , Futilidade Médica , Tomografia Computadorizada Multidetectores , Trombectomia , Idoso , Idoso de 80 Anos ou mais , Atrofia , Encéfalo/fisiopatologia , Tomada de Decisão Clínica , Avaliação da Deficiência , Feminino , Estado Funcional , Humanos , AVC Isquêmico/diagnóstico por imagem , AVC Isquêmico/fisiopatologia , Leucoaraiose/fisiopatologia , Masculino , Valor Preditivo dos Testes , Estudos Retrospectivos , Fatores de Risco , Resultado do Tratamento
20.
Neurol Clin Pract ; 11(1): 33-42, 2021 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-33968470

RESUMO

OBJECTIVE: To determine the differences in outcomes of adult patients with ataxia initially evaluated for paraneoplastic cerebellar degeneration (PCD) as inpatients or outpatients. METHODS: In this retrospective cohort analysis, diagnosis, workup, and functional outcomes based on the change in the modified Rankin Scale (mRS) score were compared between patients with ataxia who underwent workup for PCD initially as inpatients vs outpatients between March 2011 and June 2018 at Rush University Medical Center. RESULTS: There were 78 patients included in the analysis; 59% were women, and the average age at symptom onset was 57 ± 19.5 years. Nineteen patients (24.3%) underwent evaluation as inpatients and 59 (75.6%) as outpatients. Admitted patients were more likely to receive immunotherapy (73.7% vs 20.3%, p < 0.0001) and received it faster than outpatients (0.40 months for inpatients, interquartile range [IQR] 0.03-1 months, vs 6.6 months for outpatients, IQR 2-11.7 months; p = 0.01). A greater percentage of inpatients improved based on the mRS score compared with those who underwent evaluation as outpatients (52.63% vs 22.81%, p = 0.01). CONCLUSIONS: More patients improved from baseline in the inpatient cohort. CLASSIFICATION OF EVIDENCE: This study provides Class III evidence that for patients undergoing initial evaluation for PCD, patients undergoing inpatient evaluation have better outcomes compared with those undergoing outpatient evaluation.

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