16 research outputs found
Acupuncture in shoulder pain and functional impairment after neck dissection: A prospective randomized pilot study
Acupuncture in shoulder pain and functional impairment after neck dissection: A prospective randomized pilot study
OBJECTIVES/HYPOTHESIS:
The efficacy of conventional physiotherapy and antiinflammatory/analgesic drugs in the management of shoulder pain and functional disability following neck dissection is often disappointing. Acupuncture is a safe and well-tolerated method. We report the results regarding our pilot trial of acupuncture versus conventional care in the management of postoperative shoulder pain and dysfunction after neck dissection.
STUDY DESIGN:
Pilot study.
METHODS:
Patients at a tertiary university center with chronic pain or dysfunction attributed to neck dissection were randomly assigned to either weekly acupuncture or usual care (eg., physical therapy, analgesia, and/or antiinflammatory drugs) for 5 consecutive weeks. The Constant-Murley score, a composite measure of pain, function, and activities of daily living, was the primary outcome measure. As secondary end point, The Neck Dissection Impairment Index (NDII) was used to quantify site-specific, self-reported quality of life (QOL).
RESULTS:
After randomization, 48 patients completed the study (23 and 25 patients on acupuncture and control arms, respectively). Constant-Murley scores improved more in the acupuncture group (gain difference between groups 13.6, P < 0.01), a statistically significant improvement in site-specific QOL was also recorded at NDII (gain difference between groups 11.5, P < 0.01).
CONCLUSION:
Acupuncture is safe and effective; it should be introduced and offered to patients suffering from neck pain and dysfunction related to neck dissection
Multicentre, randomised, single-blind, parallel group trial to compare the effectiveness of a Holter for Parkinson's symptoms against other clinical monitoring methods: study protocol
Introduction
In recent years, multiple studies have aimed to develop and validate portable technological devices capable of monitoring the motor complications of Parkinson's disease patients (Parkinson's Holter). The effectiveness of these monitoring devices for improving clinical control is not known.
Methods and analysis
This is a single-blind, cluster-randomised controlled clinical trial. Neurologists from Spanish health centres will be randomly assigned to one of three study arms (1:1:1): (a) therapeutic adjustment using information from a Parkinson?s Holter that will be worn by their patients for 7 days, (b) therapeutic adjustment using information from a diary of motor fluctuations that will be completed by their patients for 7 days and (c) therapeutic adjustment using clinical information collected during consultation. It is expected that 162 consecutive patients will be included over a period of 6 months.
The primary outcome is the efficiency of the Parkinson?s Holter compared with traditional clinical practice in terms of Off time reduction with respect to the baseline (recorded through a diary of motor fluctuations, which will be completed by all patients). As secondary outcomes, changes in variables related to other motor complications (dyskinesia and freezing of gait), quality of life, autonomy in activities of daily living, adherence to the monitoring system and number of doctor?patient contacts will be analysed. The noninferiority of the Parkinson's Holter against the diary of motor fluctuations in terms of Off time reduction will be studied as the exploratory objective.
Ethics and dissemination approval for this study has been obtained from the Hospital Universitari de Bellvitge Ethics Committee. The results of this study will inform the practical utility of the objective information provided by a Parkinson's Holter and, therefore, the convenience of adopting this technology in clinical practice and in future clinical trials. We expect public dissemination of the results in 2022.Funding This work is supported by AbbVie S.L.U, the Instituto de Salud Carlos III [DTS17/00195] and the European Fund for Regional Development, 'A way to make Europe'
Sindrome PFAPA ( Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Cervical Adenitis).Protocollo Diagnostico e Terapia Medica
La sindrome PFAPA, forma parte di un grande capitolo quello delle âfebbre ricorrentiâ ed Ăš stata studiata da autori di diverse scuole e nazionalitĂ sotto il profilo eziologico, genetico, immunologico e terapeutico.
A seguito del nostro studio osservazionale retrospettivo sulla risposta della sindrome PFAPA (Periodic Fever, Aphthous Stomatitis, Pharingytis, and cervical Adenitis) alla terapia con immunostimolante (Pidotimod), che ha portato a incoraggianti risultati, Ăš stato evidenziato un ampio âbiasâ legato alla diagnosi esclusivamente clinica di tale sindrome. Per tale motivo ci siamo proposti di verificare se vi siano relazioni strette fra i risultati emersi in letteratura al fine di tracciare un percorso diagnostico, che comprenda lâaspetto genetico, immunologico e clinico, conducendo a una maggiore chiarezza nella diagnosi che consentano terapie mirate ed efficaci
The genetic architecture of Parkinson Disease in Spain: Characterizing populationâspecific risk, differential haplotype structures, and providing etiologic insight
The genetic architecture of Parkinson Disease in Spain: Characterizing populationâspecific risk, differential haplotype structures, and providing etiologic insight
Genome-Wide Association Study of VKORC1 and CYP2C9 on acenocoumarol dose, stroke recurrence and intracranial haemorrhage in Spain
The Genetic Architecture of Parkinson Disease in Spain: Characterizing Population-Specific Risk, Differential Haplotype Structures, and Providing Etiologic Insight
Background: The Iberian Peninsula stands out as having variable levels of population admixture and isolation, making Spain an interesting setting for studying the genetic architecture of neurodegenerative diseases. Objectives: To perform the largest PD genome-wide association study restricted to a single country. Methods: We performed a GWAS for both risk of PD and age at onset in 7,849 Spanish individuals. Further analyses included population-specific risk haplotype assessments, polygenic risk scoring through machine learning, Mendelian randomization of expression, and methylation data to gain insight into disease-associated loci, heritability estimates, genetic correlations, and burden analyses. Results: We identified a novel population-specific genome-wide association study signal at PARK2 associated with age at onset, which was likely dependent on the c.155delA mutation. We replicated four genome-wide independent signals associated with PD risk, including SNCA, LRRK2, KANSL1/MAPT, and HLA-DQB1. A significant trend for smaller risk haplotypes at known loci was found compared to similar studies of non-Spanish origin. Seventeen PD-related genes showed functional consequence by two-sample Mendelian randomization in expression and methylation data sets. Long runs of homozygosity at 28 known genes/loci were found to be enriched in cases versus controls. Conclusions: Our data demonstrate the utility of the Spanish risk haplotype substructure for future fine-mapping efforts, showing how leveraging unique and diverse population histories can benefit genetic studies of complex diseases. The present study points to PARK2 as a major hallmark of PD etiology in Spain.This research was supported, in part, by the Intramural Research Program of the National Institutes of Health (National Institute on Aging, National Institute of Neurological Disorders and Stroke; project numbers: 1ZIAâNS003154â03, Z01âAG000949â02, and Z01âES101986). In addition, this work was supported by the Department of Defense (award W81XWHâ09â2â0128), The Michael J Fox Foundation for Parkinson's Research, and the ISCIII Grants PI 15/0878 (Fondos Feder) to V.A. and PI 15/01013 to J,H. This study was supported by grants from the Spanish Ministry of Economy and Competitiveness (PI14/01823, PI16/01575, PI18/01898, [SAF2006â10126 (2006â2009), SAF2010â22329âC02â01 (2010â2012), and SAF2013â47939âR (2013â2018)]), coâfounded by ISCIII (SubdirecciĂłn General de EvaluaciĂłn y Fomento de la InvestigaciĂłn) and by Fondo Europeo de Desarrollo Regional (FEDER), the ConsejerĂa de EconomĂa, InnovaciĂłn, Ciencia y Empleo de la Junta de AndalucĂa (CVIâ02526, CTSâ7685), the ConsejerĂa de Salud y Bienestar Social de la Junta de AndalucĂa (PIâ0437â2012, PIâ0471â2013), the Sociedad Andaluza de NeurologĂa, the Jacques and Gloria Gossweiler Foundation, the FundaciĂłn Alicia Koplowitz, and the FundaciĂłn Mutua Madrileña. Pilar GĂłmezâGarre was supported by the âMiguel Servetâ (from ISCIII16 FEDER) and âNicolĂĄs Monardesâ (from Andalusian Ministry of Health) programmes. Silvia JesĂșs Maestre was supported by the âJuan RodĂ©sâ programme, and Daniel MacĂasâGarcĂa was supported by the âRĂo Hortegaâ programme (both from ISCIIIâFEDER). Cristina Tejera Parrado was supported by VPPIâUS from the Universidad de Sevilla. This research has been conducted using samples from the HUVRâIBiS Biobank (Andalusian Public Health System Biobank and ISCIIIâRed de Biobancos PT13/0010/0056). This work was also supported by the grant PSI2014â57643 from the Junta de AndalucĂa to the CTSâ438 group and a research award from the Andalusian Society of Neurology
The Genetic Architecture of Parkinson Disease in Spain: Characterizing PopulationâSpecific Risk, Differential Haplotype Structures, and Providing Etiologic Insight
The Iberian Peninsula stands out as having variable levels of population admixture and isolation, making Spain an interesting setting for studying the genetic architecture of neurodegenerative diseases. To perform the largest PD genome-wide association study restricted to a single country. We performed a GWAS for both risk of PD and age at onset in 7,849 Spanish individuals. Further analyses included population-specific risk haplotype assessments, polygenic risk scoring through machine learning, Mendelian randomization of expression, and methylation data to gain insight into disease-associated loci, heritability estimates, genetic correlations, and burden analyses. We identified a novel population-specific genome-wide association study signal at PARK2 associated with age at onset, which was likely dependent on the c.155delA mutation. We replicated four genome-wide independent signals associated with PD risk, including SNCA, LRRK2, KANSL1/MAPT, and HLA-DQB1. A significant trend for smaller risk haplotypes at known loci was found compared to similar studies of non-Spanish origin. Seventeen PD-related genes showed functional consequence by two-sample Mendelian randomization in expression and methylation data sets. Long runs of homozygosity at 28 known genes/loci were found to be enriched in cases versus controls. Our data demonstrate the utility of the Spanish risk haplotype substructure for future fine-mapping efforts, showing how leveraging unique and diverse population histories can benefit genetic studies of complex diseases. The present study points to PARK2 as a major hallmark of PD etiology in Spain. © 2019 International Parkinson and Movement Disorder Society
The Genetic Architecture of Parkinson Disease in Spain: Characterizing Population-Specific Risk, Differential Haplotype Structures, and Providing Etiologic Insight.
The Iberian Peninsula stands out as having variable levels of population admixture and isolation, making Spain an interesting setting for studying the genetic architecture of neurodegenerative diseases. To perform the largest PD genome-wide association study restricted to a single country. We performed a GWAS for both risk of PD and age at onset in 7,849 Spanish individuals. Further analyses included population-specific risk haplotype assessments, polygenic risk scoring through machine learning, Mendelian randomization of expression, and methylation data to gain insight into disease-associated loci, heritability estimates, genetic correlations, and burden analyses. We identified a novel population-specific genome-wide association study signal at PARK2 associated with age at onset, which was likely dependent on the c.155delA mutation. We replicated four genome-wide independent signals associated with PD risk, including SNCA, LRRK2, KANSL1/MAPT, and HLA-DQB1. A significant trend for smaller risk haplotypes at known loci was found compared to similar studies of non-Spanish origin. Seventeen PD-related genes showed functional consequence by two-sample Mendelian randomization in expression and methylation data sets. Long runs of homozygosity at 28 known genes/loci were found to be enriched in cases versus controls. Our data demonstrate the utility of the Spanish risk haplotype substructure for future fine-mapping efforts, showing how leveraging unique and diverse population histories can benefit genetic studies of complex diseases. The present study points to PARK2 as a major hallmark of PD etiology in Spain. © 2019 International Parkinson and Movement Disorder Society