Neurodegenerative disease management最新文献

Aims: To describe the 12-month effectiveness, persistence, tolerability, and safety of ofatumumab (OMB), a highly effective disease-modifying therapy (DMT) for relapsing multiple sclerosis (MS), in a real-world MS population.

Patients & methods: Electronic medical records of patients starting OMB from October 2020 to August 2022 at two comprehensive MS centers were reviewed. Demographics and disease characteristics and 6- and 12-month clinical, patient-reported, and radiologic outcome measures were analyzed.

Results: A total of 175 patients started OMB with mean age 44.9 (SD 10.4) and disease duration 13.6 (SD 9.6) years. The cohort was 74% female, included 81% White and 13% Black American patients, and consisted of 80% relapsing-remitting MS or clinically isolated syndrome. Most (87%) had prior DMT exposure with 38% switching from high efficacy DMT. Over 12 months, 9.7% discontinued OMB (mean 117 days, SD 99.2), with tolerability issues being the most common reason. Thirty-nine (22%) had relapses in the year before starting OMB. By 12 months, only 1 relapse had occurred after approximately 4 months post-treatment initiation.

Discussion: This real-world study demonstrated that OMB is highly effective with robust persistence and good safety and tolerability by 12-month follow-up. Further analyses are planned to examine longer-term outcomes.

Friedreich ataxia (FRDA) is a slowly progressive neurological disease resulting from decreased levels of the protein frataxin, a small mitochondrial protein that facilitates the synthesis of iron-sulfur clusters in the mitochondrion. It is caused by GAA (guanine-adenine-adenine) repeat expansions in the FXN gene in 96% of patients, with 4% of patients carrying other mutations (missense, nonsense, deletion) in the FXN gene. Compound heterozygote patients with one expanded GAA allele and a non-GAA repeat mutation can have subtle differences in phenotype from typical FRDA, including, in patients with selected missense mutations, both more severe features and less severe features in the same patient. In this review, we propose explanations for such phenotypes based on the potential for activities of frataxin other than enhancement of iron-sulfur cluster synthesis, as well as crucial future experiments for fully understanding the role of frataxin in cells.

What is this summary about?: This summary explains the findings of a recent study that compared different questionnaires used by doctors to measure levels of fatigue in people with multiple sclerosis (MS). The aim of the study was to find out which questionnaire doctors should use to measure fatigue in people with MS in the future. Fatigue, which can be described as the overwhelming feeling of tiredness or exhaustion, is a very common symptom of MS. For the majority of people with MS, fatigue is one of the worst symptoms of MS, so it is essential that doctors can measure it accurately. Currently, people with MS are asked to complete questionnaires so that their care team can see the effect of fatigue on their day-to-day lives. There are many questionnaires that are used to measure fatigue in people with MS. It would be valuable to come to an agreement, based on evidence from research like this study, on which questionnaire is the most appropriate for measuring fatigue in both research and healthcare settings. This study compared a questionnaire called the PROMIS^® Fatigue (MS) 8a, referred to throughout this summary as the PROMIS^® MS Fatigue Short Form, with two of the most commonly used questionnaires: the Fatigue Severity Scale (FSS) and the Modified Fatigue Impact Scale (MFIS). The questionnaires were compared to see which one should be recommended to doctors for measuring fatigue in people with MS.

What are the key takeaways?: It was found that while all three questionnaires were good, the PROMIS^® MS Fatigue Short Form questionnaire was better than the other two questionnaires at showing differences in levels of fatigue between people with MS. The PROMIS^® MS Fatigue Short Form was also found to be better than the Fatigue Severity Scale (FSS) at showing changes in the person with MS's level of fatigue. The PROMIS^® MS Fatigue Short Form questionnaire may help people with MS to better communicate challenges with their fatigue to their doctors.

What was the main conclusion reported by the researchers?: The study suggests that the PROMIS^® MS Fatigue Short Form questionnaire is a helpful tool for doctors and people with MS to measure fatigue.

Aim: This prospective, multicenter, open-label, noninterventional 12-week study investigated the effectiveness and tolerability of add-on nabiximols oromucosal spray (Sativex^®) in the real-world setting in Germany. Patients & methods: The main analysis set comprised 51 adult patients (49 nabiximols responders) with multiple sclerosis (MS) spasticity. Results: The mean overall goal attainment scale score (primary outcome measure) increased by 46% from baseline to week 12 (35.2 vs 51.4; p < 0.001). Mean gait speed was improved by 23% at 4 and 12 weeks. Clinically meaningful improvements in mean 0-10 numerical rating scale scores for spasticity, pain, sleep quality and urinary bladder dysfunction were recorded at 4 and 12 weeks. Conclusion: Nabiximols is a useful therapeutic option for patients with MS spasticity.

Aim: Studying the effects of self-paced concurrent high-intensity interval training and resistance training (HIIT-RT) on respiratory function, cardiopulmonary fitness and fatigue perception in patients with multiple sclerosis (PwMS).Methods: Twenty-three PwMS were randomized into a 12-week training group (three times per week) (TG, n = 11) or a control group (CG, n = 12). Lung function (spirometry), aerobic capacity (graded cardiopulmonary-exercise-testing) and perceived fatigue (Fatigue Severity Scale (FSS)) were evaluated pre- and post-intervention.Results: The forced vital capacity (p = 0.036, Hedges'g (g) = 0.93), forced expiratory time (p = 0.045, g = 0.88), peak expiratory flow (p = 0.043, g = 0.89) increased in TG compared with CG. The TG showed an increase in peak aerobic power (p = 0.004, g = 1.34) and peak oxygen uptake (p < 0.001, g = 2.58) compared with CG. There was a decrease in ventilatory equivalent for carbon dioxide (p = 0.02, g = 1.02) and FSS scores (p < 0.001, g = 1.72) in TG comparatively with CG.Conclusion: 12-week self-paced HIIT-RT enhanced lung function as well as aerobic fitness, and alleviated fatigue perception in PwMS.

Interdisciplinary care is increasingly promoted to enhance satisfaction and outcomes for individuals with complex medical conditions, such as Parkinson's disease (PD). However, there is little research on the feasibility or efficacy of interdisciplinary care in clinical settings. And, while the use of an integrated team of allied health professionals has the potential to provide significant health benefits to individuals with PD, there are educational and logistical barriers to the use of interdisciplinary care in clinical settings. An interdisciplinary care model was described that aimed to facilitate these benefits and alleviate some of these known clinical feasibility challenges. Three cases are also provided to exemplify how this approach to collaborative care was used to address individual needs and to highlight some of the successes and challenges associated with the implementation of an interdisciplinary and person-centered care model via telehealth. These cases may help clinicians adopt techniques to facilitate greater collaboration across disciplines or aid in the development of a feasible interdisciplinary program in their own clinics. Further research is needed to further enhance individual outcomes and integrate other disciplines into the care team.