Risultati per: Morbo di Parkinson

‘Speranze da nuove ricerche e molecole allo studio’

New England Journal of Medicine, Volume 390, Issue 13, Page 1176-1185, April 2024.

New England Journal of Medicine, Volume 390, Issue 13, April 2024.

New England Journal of Medicine, Volume 390, Issue 13, Page 1233-1234, April 2024.

Lettera aperta a Schillaci-Bernini

This case report describes a patient in their 50s with a history of pneumoconiosis and chronic obstructive pulmonary disease who presented to the emergency department with sudden onset shortness of breath.

Introduction
Parkinson’s disease (PD) represents the fastest growing neurodegenerative disease with an increasing prevalence worldwide. It is characterised by complex motor and non-motor symptoms that lead to considerable disability. Specialised physiotherapy has been shown to benefit patients with PD. The Parkinson Netzwerk Therapie (PaNTher) was created to improve access to specialised physiotherapy tailored to care priorities of PD patients. This study aims to evaluate the effectiveness, acceptability and needs of the PaNTher network by neurologists and physiotherapists involved in the network in outpatient care.

Methods and analysis
This is a mixed-method, prospective, pragmatic non-randomised cohort study of parallel groups, with data collection taking place in Bavaria, Germany, between 2020 and 2024. Patients with PD insured by the Allgemeine Ortskrankenkasse Bayern (AOK Bayern) living in Bavaria will be recruited for study participation by network partners. Patients in the intervention group must reside in Munich or the surrounding area to ensure provision of specialised physiotherapy in close proximity to their place of residence. Controls receive care as usual. Six and 12 months after baseline, all patients receive a follow-up questionnaire. Mixed-effect regression models will be used to examine changes in impairment of activities of daily living and quality of life of patients with PD enrolled in the programme over time compared with usual care. Qualitative interviews will investigate the implementation processes and acceptability of the PaNTher network among neurologists and physiotherapists. The study is expected to show that the PaNTher network with an integrative care approach will improve the quality and effectiveness of the management and treatment of patients with PD.

Ethics and dissemination
The study has been approved by the ethics committee at the medical faculty of the Ludwig-Maximilians-University Munich (20-318). Results will be published in scientific, peer-reviewed journals and presented at national and international conferences.

Circulation, Volume 148, Issue Suppl_1, Page A12838-A12838, November 6, 2023. Background:Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) is one of the most common mitochondrial disorders. Cardiovascular involvement has been reported in up to 30% of MELAS patients with varying clinical presentations from non-specific cardiogenic abnormalities to conduction abnormalities, cardiomyopathies, heart failure, fatal arrhythmias and cardiac death. Although conduction defects are a known complication, the frequency of Wolff-Parkinson-White (WPW) Syndrome among MELAS patients and mutations associated with MELAS is uncertain, and their association with cardiomyopathy and treatment outcomes have rarely been reported.Methods:A retrospective chart review of 50 MELAS patients from January 2007 to December 2022 from the Neuroscience Institute at University of Texas Houston was conducted. Medical histories, genetic testing, electrocardiograms, echocardiograms, and electrophysiology studies were reviewed.Results:43 patients were included (mean age 23.8, median age 18.5, range 2-58). Eight of 43 patients with MELAS (20 %), inclusive of one of 3 patients with m.4317A >G (33.3%) and seven of 40 patients with m.3243A >G variants had electrocardiographic findings consistent with WPW. Other conduction abnormalities were noted in ten of 20 patients (50%) with m.3243A >G with neurological involvement and six of 20 patients (30%) with m.3243A >G mutation without strokes. Four patients required electrophysiology studies with ablation (mean age 8.5, range 7-10), one for inappropriate sinus tachycardia resistant to several medications, and three patients with WPW syndrome all of whom required repeat ablations. Conduction abnormalities had a positive correlation with higher heteroplasmy levels (mean 35 % vs 51%, 95% CI -30.2 to -2.88, p=0.019). Six patients with MELAS had cardiomyopathy of varying severity which were all associated with conduction abnormalities, including two patients with WPW syndrome (p=0.014).Conclusion:The prevalence of WPW in patients with MELAS syndrome and the m.3243A >G variant appears much higher than in the normal population and may require multiple electrophysiology studies ablations to treat. Routine cardiology screening is recommended for early detection.

Circulation, Volume 148, Issue Suppl_1, Page A17249-A17249, November 6, 2023. Introduction:Wolff-Parkinson-White syndrome (WPW) is a congenital heart disease associated with life-threatening arrhythmias. However, little is known about the epidemiology of WPW in the general population.Goals:To describe the frequency, predictors, and management associated with WPW among California residents.Methods:We used Ambulatory Surgery, Emergency Department, and Inpatient data from the California Department of Health Care Access and Information to identify California residents receiving hospital care between January 1, 2005 to December 31, 2020. Demographics were ascertained from the database. Rurality was determined using the CDC Urban-Rural Classification. Diagnoses and procedures were identified using clinical diagnostic codes. Two multivariable logistic regression models were used to 1) assess the association between patient characteristics and WPW in the entire cohort and 2) examine the odds of undergoing an electrophysiology study (EPS)/ablation among those with WPW. All models were adjusted for sex, rurality, race/ethnicity, and median income.Results:Among 31,414,813 individuals (53% female, 53% non-White, 3% rural), 19,866 (0.06%) had WPW. After multivariable adjustment, those who were female, non-White, or residing in a lower income county had lower odds of having a diagnosis of WPW. Among those with WPW, those who were female, Black, Native Hawaiian/Pacific Islander, or residing in a lower income county were less likely to undergo EPS/ablation. Hispanics and Asians with WPW were more likely to undergo an EPS/ablation than non-Hispanic Whites (Figure).Conclusions:There are substantial differences in both the diagnosis and treatment of WPW by patient characteristics. Whether, or to what degree, these are due to biological differences, the clinical presentation, access to care, or willingness to undergo interventions is deserving of future research.

Indipendentemente da fattori legati alla malattia

Indipendentemente da fattori legati alla malattia

Hanno il 61% in più di probabilità di ammalarsi

Annals of Internal Medicine, Volume 176, Issue 6, Page 875, June 2023.

This Medical News story discusses a new study in JAMA Neurology that links exposure to contaminated drinking water at Marine Corps Base Camp Lejeune to an increased risk of Parkinson disease.