13 research outputs found
The Post-thrombotic Syndrome-Prevention and Treatment: VAS-European Independent Foundation in Angiology/Vascular Medicine Position Paper.
Importance: The post-thrombotic syndrome (PTS) is the most common long-term complication of deep vein thrombosis (DVT), occurring in up to 40-50% of cases. There are limited evidence-based approaches for PTS clinical management. Objective: To provide an expert consensus for PTS diagnosis, prevention, and treatment. Evidence-review: MEDLINE, Cochrane Database review, and GOOGLE SCHOLAR were searched with the terms "post-thrombotic syndrome" and "post-phlebitic syndrome" used in titles and abstracts up to September 2020. Filters were: English, Controlled Clinical Trial / Systematic Review / Meta-Analysis / Guideline. The relevant literature regarding PTS diagnosis, prevention and treatment was reviewed and summarized by the evidence synthesis team. On the basis of this review, a panel of 15 practicing angiology/vascular medicine specialists assessed the appropriateness of several items regarding PTS management on a Likert-9 point scale, according to the RAND/UCLA method, with a two-round modified Delphi method. Findings: The panelists rated the following as appropriate for diagnosis: 1-the Villalta scale; 2- pre-existing venous insufficiency evaluation; 3-assessment 3-6 months after diagnosis of iliofemoral or femoro-popliteal DVT, and afterwards periodically, according to a personalized schedule depending on the presence or absence of clinically relevant PTS. The items rated as appropriate for symptom relief and prevention were: 1- graduated compression stockings (GCS) or elastic bandages for symptomatic relief in acute DVT, either iliofemoral, popliteal or calf; 2-thigh-length GCS (30-40 mmHg at the ankle) after ilio-femoral DVT; 3- knee-length GCS (30-40 mmHg at the ankle) after popliteal DVT; 4-GCS for different length of times according to the severity of periodically assessed PTS; 5-catheter-directed thrombolysis, with or without mechanical thrombectomy, in patients with iliofemoral obstruction, severe symptoms, and low risk of bleeding. The items rated as appropriate for treatment were: 1- thigh-length GCS (30-40 mmHg at the ankle) after iliofemoral DVT; 2-compression therapy for ulcer treatment; 3- exercise training. The role of endovascular treatment (angioplasty and/or stenting) was rated as uncertain, but it could be considered for severe PTS only in case of stenosis or occlusion above the inguinal ligament, followed by oral anticoagulation. Conclusions and relevance: This position paper can help practicing clinicians in PTS management
Author Correction: Elucidating causative gene variants in hereditary Parkinsonâs disease in the Global Parkinsonâs Genetics Program (GP2)
Correction to: npj Parkinsonâs Disease, published online 27 June 2023 In this article the Global Parkinsonâs Genetics Program (GP2) members names and affiliations were missing in the main author list of the Original article which are listed in the below
Defining the causes of sporadic Parkinsonâs disease in the global Parkinsonâs genetics program (GP2)
\ua9 2023, Springer Nature Limited. The Global Parkinsonâs Genetics Program (GP2) will genotype over 150,000 participants from around the world, and integrate genetic and clinical data for use in large-scale analyses to dramatically expand our understanding of the genetic architecture of PD. This report details the workflow for cohort integration into the complex arm of GP2, and together with our outline of the monogenic hub in a companion paper, provides a generalizable blueprint for establishing large scale collaborative research consortia
Multi-ancestry genome-wide association meta-analysis of Parkinsonâs disease
\ua9 2023, This is a U.S. Government work and not under copyright protection in the US; foreign copyright protection may apply. Although over 90 independent risk variants have been identified for Parkinsonâs disease using genome-wide association studies, most studies have been performed in just one population at a time. Here we performed a large-scale multi-ancestry meta-analysis of Parkinsonâs disease with 49,049 cases, 18,785 proxy cases and 2,458,063 controls including individuals of European, East Asian, Latin American and African ancestry. In a meta-analysis, we identified 78 independent genome-wide significant loci, including 12 potentially novel loci (MTF2, PIK3CA, ADD1, SYBU, IRS2, USP8, PIGL, FASN, MYLK2, USP25, EP300 and PPP6R2) and fine-mapped 6 putative causal variants at 6 known PD loci. By combining our results with publicly available eQTL data, we identified 25 putative risk genes in these novel loci whose expression is associated with PD risk. This work lays the groundwork for future efforts aimed at identifying PD loci in non-European populations
Defining the causes of sporadic Parkinsonâs disease in the global Parkinsonâs genetics program (GP2)
The Global Parkinsonâs Genetics Program (GP2) will genotype over 150,000 participants from around the world, and integrate genetic and clinical data for use in large-scale analyses to dramatically expand our understanding of the genetic architecture of PD. This report details the workflow for cohort integration into the complex arm of GP2, and together with our outline of the monogenic hub in a companion paper, provides a generalizable blueprint for establishing large scale collaborative research consortia
Author Correction: Elucidating causative gene variants in hereditary Parkinsonâs disease in the Global Parkinsonâs Genetics Program (GP2)
Correction to: s41531-023-00526-9 npj Parkinsonâs Disease, published online 27 June 2023 In this article the Global Parkinsonâs Genetics Program (GP2) members names and affiliations were missing in the main author list of the Original article which are listed in the below
Multi-ancestry genome-wide association meta-analysis of Parkinson?s disease
Although over 90 independent risk variants have been identified for Parkinsonâs disease using genome-wide association studies, most studies have been performed in just one population at a time. Here we performed a large-scale multi-ancestry meta-analysis of Parkinsonâs disease with 49,049 cases, 18,785 proxy cases and 2,458,063 controls including individuals of European, East Asian, Latin American and African ancestry. In a meta-analysis, we identified 78 independent genome-wide significant loci, including 12 potentially novel loci (MTF2, PIK3CA, ADD1, SYBU, IRS2, USP8, PIGL, FASN, MYLK2, USP25, EP300 and PPP6R2) and fine-mapped 6 putative causal variants at 6 known PD loci. By combining our results with publicly available eQTL data, we identified 25 putative risk genes in these novel loci whose expression is associated with PD risk. This work lays the groundwork for future efforts aimed at identifying PD loci in non-European populations
The COVID-19 Pandemic and the Need for an Integrated and Equitable Approach: An International Expert Consensus Paper
International audienceBackgroundâOne year after the declaration of the coronavirus disease 2019 (COVID-19) pandemic by the World Health Organization (WHO) and despite the implementation of mandatory physical barriers and social distancing, humanity remains challenged by a long-lasting and devastating public health crisis. ManagementâNon-pharmacological interventions (NPIs) are efficient mitigation strategies. The success of these NPIs is dependent on the approval and commitment of the population. The launch of a mass vaccination program in many countries in late December 2020 with mRNA vaccines, adenovirus-based vaccines, and inactivated virus vaccines has generated hope for the end of the pandemic. Current IssuesâThe continuous appearance of new pathogenic viral strains and the ability of vaccines to prevent infection and transmission raise important concerns as we try to achieve community immunity against severe acute respiratory syndrome coronavirus type 2 (SARS-CoV-2) and its variants. The need of a second and even third generation of vaccines has already been acknowledged by the WHO and governments. PerspectivesâThere is a critical and urgent need for a balanced and integrated strategy for the management of the COVID-19 outbreaks organized on three axes: (1) Prevention of the SARS-CoV-2 infection, (2) Detection and early diagnosis of patients at risk of disease worsening, and (3) Anticipation of medical care (PDA). ConclusionâThe âPDA strategyâ integrated into state policy for the support and expansion of health systems and introduction of digital organizations (i.e., telemedicine, e-Health, artificial intelligence, and machine-learning technology) is of major importance for the preservation of citizens' health and life world-wide
Mapping the differences in care for 5,000 Spinal Muscular Atrophy patients, a survey of 24 national registries in North America, Australasia and Europe
The COVID-19 Pandemic and the Need for an Integrated and Equitable Approach: An International Expert Consensus Paper
Background One year after the declaration of the coronavirus disease
2019 (COVID-19) pandemic by the World Health Organization (WHO) and
despite the implementation of mandatory physical barriers and social
distancing, humanity remains challenged by a long-lasting and
devastating public health crisis.
Management Non-pharmacological interventions (NPIs) are efficient
mitigation strategies. The success of these NPIs is dependent on the
approval and commitment of the population. The launch of a mass
vaccination program in many countries in late December 2020 with mRNA
vaccines, adenovirus-based vaccines, and inactivated virus vaccines has
generated hope for the end of the pandemic.
Current Issues The continuous appearance of new pathogenic viral strains
and the ability of vaccines to prevent infection and transmission raise
important concerns as we try to achieve community immunity against
severe acute respiratory syndrome coronavirus type 2 (SARS-CoV-2) and
its variants. The need of a second and even third generation of vaccines
has already been acknowledged by the WHO and governments.
Perspectives There is a critical and urgent need for a balanced and
integrated strategy for the management of the COVID-19 outbreaks
organized on three axes: (1) P revention of the SARS-CoV-2 infection,
(2) Detection and early diagnosis of patients at risk of disease
worsening, and (3) Anticipation of medical care (PDA).
Conclusion The âPDA strategyâ integrated into state policy for the
support and expansion of health systems and introduction of digital
organizations (i.e., telemedicine, e-Health, artificial intelligence,
and machine-learning technology) is of major importance for the
preservation of citizensâ health and life world-wide