Neurodegenerative disease management最新文献

Aim: To describe clinician and researcher perceptions of a new, patient preference focused approach to recruiting patients for research from primary care-based memory clinics. Methods: Memory clinic clinicians completed a survey and key informants completed an individual interview to gather their perceptions of this new program. Results: The majority of clinicians were 'satisfied' or 'very satisfied' with this recruitment approach and indicated that this approach would have minimal negative impact on patient care or create conflict of interest. Key informants valued the program for its patient-centred approach, the integration of research into care and potential for increased recruitment. Discussion: These findings are suggestive of support for this recruitment approach. Pilot testing will inform feasibility, effectiveness and process improvements.

Parkinson's disease (PD) is a neurodegenerative disorder with significant genetic influence. The LRRK2 gene is a major genetic contributor, particularly the Gly2019Ser mutation. This focused review investigates the global distribution of LRRK2 mutations, with emphasis on Gly2019Ser and other pathogenic variants. Prevalence rates of Gly2019Ser are highest in North Africa and the Ashkenazi-Jewish population, indicating a potential common ancestor and founder effect. Other LRRK2 mutations, including Asn1437His, Arg1441Gly/Cys/His, Tyr1699Cys and Ile2020Thr, exhibit varying global prevalences. Understanding these distributions enhances our knowledge of PD genetics and aids personalized medicine. Further research is crucial to unravel clinical implications and develop targeted therapies for LRRK2 mutation carriers.

Aim: To examine Free-Cog, a recently described, hybrid screening instrument, as separate tests of cognitive (Free-Cog-Cog) and executive function (Free-Cog-Exec) to see if this improved screening accuracy for cognitive impairment compared with standard Free-Cog. Materials & methods: Free-Cog-Cog and Free-Cog-Exec were combined using Boolean logical 'AND' and 'OR' operators (serial and parallel combination), and also used to construct a stepwise decision tree. Results: Serial combination improved specificity and positive predictive value whereas parallel combination improved sensitivity, typical findings with these operators. Stepwise application identified groups with high and low probability of cognitive impairment but failed to differentiate adequately those in the intermediate uncertain diagnosis group. Conclusion: Study findings suggest limited benefit from reformulations of Free-Cog compared with the standard instrument.

Objective: People with a neuromuscular disease (NMD) often experience challenges in everyday life and healthcare. Aim: To investigate experiences of and perspectives on challenges in everyday life and healthcare of people with NMDs and their relatives to gain new insights into how life-long rehabilitation can be tailored. Patients & methods: The design was qualitative using the interpretive description methodology and the Sense of Coherence theory. An ethnographic fieldwork was conducted where 45 persons with NMD and their relatives were included for interviews and participant observations. Results & conclusion: People with NMDs continually adapt to a changing functioning and balance their need for knowledge with their dependency on help when navigating the healthcare system. Structured, professionally facilitated peer support is needed.

What is this summary about?: Previous studies have shown that people living with multiple sclerosis (MS) treated with cladribine tablets have fewer relapses (where new symptoms occur or existing symptoms get worse for 24 hours or more) and delayed disability progression (slowing down of the disease getting worse). The CLASSIC-MS study looked at the long-term effectiveness of treatment with cladribine tablets in people living with MS who had taken part in the original CLARITY and CLARITY Extension clinical studies.

What were the results?: Results showed that people treated with cladribine tablets maintained their mobility (the ability to move freely) for longer and experienced other positive effects long after their treatment ended, including being less likely to need further treatment for their MS.

What do the results mean?: The results obtained from CLASSIC-MS show that the benefits of taking cladribine tablets carry on even when patients stop taking the treatment.

Aim: Evaluation of practicality and patient satisfaction of a glatiramer acetate (GA) prefilled pen in patients with relapsing-remitting multiple sclerosis (RRMS). Patients & methods: A cross-sectional, multicenter, observational study evaluating patients' experiences with the GA-pen 3 months after its first use by means of self-reporting questionnaires. Primary end point was the proportion of patients who were satisfied with the pen. Results: 80 patients participated in the study. The majority (83.7%) was satisfied with the pen and 95% rated its application as easy or very easy. Conclusion: Most patients were satisfied with the GA-pen and rated its application as easy or very easy. Among the 12 device features, starting the injection without an injection button was considered the most appreciated feature. Improvements in pen functionality and design might allow patients to overcome many difficulties with self-injection, even those leading to nonadherence. But, this hypothesis awaits further validation by real-world follow-up studies.

Aim: Thorough diagnostics are a prerequisite for the optimal treatment of Alzheimer's disease (AD). Biomarker-based diagnostics are standard in academia, data on practitioners' diagnostic workups is scarce. Materials & methods: Surveys in German and US healthcare providers (HCP) were conducted regarding diagnostics in presumed AD patients. A subsample of 153 German and 88 US professionals was analyzed in detail. Results: Fewer German physicians conduct AD diagnostics themselves compared with US colleagues (67% vs 99%; p < 0.0001). German doctors more often order diagnostics at other institutions (65% vs 45%; p < 0.005). No significant differences were found regarding the type of diagnostics ordered at other institutions. Conclusion: Diagnostic routines for suspected AD patients differ between German and US-American healthcare providers.

Aim: To assess bridging glatiramer acetate (GA) or IFN-β for relapse prevention in women with relapsing multiple sclerosis planning pregnancy. Materials & methods: Participants discontinued disease-modifying therapies (DMTs) and received GA/IFN (early- or delayed-start) or no DMT (control) until pregnancy. Results: Annualized relapse rate was lower in delayed-start GA/IFN cohort versus control during washout/bridging. During washout/bridging, bridging with GA/IFN in this cohort reduced clinical activity, while disease activity increased in controls versus baseline. Conclusion: More data on GA/IFN bridging are needed. Women with low relapsing multiple sclerosis activity in the year prior to DMT discontinuation due to pregnancy planning benefited from GA/IFN bridging with lower annualized relapse rate versus no treatment and reduced clinical activity versus baseline during washout/bridging and pregnancy.

Aim: This study investigates perspectives on computer-based assessments among elderly individuals with Parkinson's disease (PD) in India for more efficient usability of digital assessments for this population. Materials & methods: Content analysis was conducted on 30 participants diagnosed with PD, who were interviewed for their preferences and perspectives on integrating technology in healthcare assessments. Results: Elderly individuals with PD in India favored paper-pencil assessments over computer-based alternatives due to limited technological familiarity, resistance to change, lack of trust in healthcare technology and PD-related motor challenges. Conclusion: Elderly patients with Parkinson's in India indicated their discomfort with computer-based based cognitive assessment. Addressing barriers toward digital assessments in India is crucial for their successful implementation in healthcare.