Analysis of neurodegenerative disease-causing genes in dementia with Lewy bodies.

Dementia with Lewy bodies (DLB) is a clinically heterogeneous disorder with a substantial burden on healthcare. Despite this, the genetic basis of the disorder is not well defined and its boundaries with other neurodegenerative diseases are unclear. Here, we performed whole exome sequencing of a cohort of 1118 Caucasian DLB patients, and focused on genes causative of monogenic neurodegenerative diseases.

Development of a Healthy Lifestyle Assessment Toolkit for the General Public.

The prevalence of age-related non-communicable chronic diseases has increased worldwide, being the leading causes of morbidity and death in many world regions, including in Europe. Innovative models and strategies focused on preventive care, including early identification of risk factors underlying disease onset and progression, and proper modification of lifestyle habits and behaviors, might contribute to promote quality of life, healthy living and active aging. Healthy Lifestyle Innovative Quarters for Cities and Citizens (HeaLIQs4cities) is an EIT Health-funded project aiming to engage, empower and educate citizens toward healthy lifestyles.

A comprehensive screening of copy number variability in dementia with Lewy bodies.

The role of genetic variability in dementia with Lewy bodies (DLB) is now indisputable; however, data regarding copy number variation (CNV) in this disease has been lacking. Here, we used whole-genome genotyping of 1454 DLB cases and 1525 controls to assess copy number variability. We used 2 algorithms to confidently detect CNVs, performed a case-control association analysis, screened for candidate CNVs previously associated with DLB-related diseases, and performed a candidate gene approach to fully explore the data.

The Quadruple Helix-Based Innovation Model of Reference Sites for Active and Healthy Ageing in Europe: The Ageing@Coimbra Case Study.

Challenges posed by demographic changes and population aging are key priorities for the Horizon 2020 Program of the European Commission. Aligned with the vision of the European Innovation Partnership on Active and Healthy Ageing (EIP on AHA), the development, exchange, and large-scale adoption of innovative good practices is a key element of the responses required to ensure all European citizens remain as active and healthy as possible as they age. Urged by the need of developing scalable disruptive innovation across Europe, the European Commission and the EIP on AHA created the Reference Sites; local coalition of partners that develop good practices to support AHA.

Investigating the genetic architecture of dementia with Lewy bodies: a two-stage genome-wide association study.

Background: Dementia with Lewy bodies is the second most common form of dementia in elderly people but has been overshadowed in the research field, partly because of similarities between dementia with Lewy bodies, Parkinson's disease, and Alzheimer's disease. So far, to our knowledge, no large-scale genetic study of dementia with Lewy bodies has been done. To better understand the genetic basis of dementia with Lewy bodies, we have done a genome-wide association study with the aim of identifying genetic risk factors for this disorder.

Sclerosis of gross cysts of the breast: a three-year study.

Breast cysts can be separated into two types: Type I cyst with a lining epithelium which shows apocrine metaplasia, and Type II cyst with an epithelium which is markedly attenuated or absent. The risk of subsequent breast cancer among patients with Type I cysts can be up to 4. The standard treatment is fine needle aspiration, but 20% of the cysts recur.

Pulmonary function after laparoscopic cholecystectomy in the elderly.

The results of laparoscopic cholecystectomy in a group of 52 patients older than 69 years (group 1) were compared with the results of the same operation in a group of 338 younger patients (group 2). In group 1, 23 per cent of patients had acute cholecystitis and 13 per cent were operated on after an episode of acute pancreatitis. In group 2, 8 per cent of patients had acute cholecystitis and 4 per cent were operated on after acute pancreatitis.

Metabolic responses to cholecystectomy: open vs. laparoscopic approach.

Laparoscopic cholecystectomy is considered a minor surgical procedure. In a prospective, randomized study, we compared the metabolic responses to surgery in two groups of patients submitted to open or laparoscopic cholecystectomy. The aim of the study was to verify if the latter caused less metabolic changes.