Abstract:
:Sequencing the human genome was the big challenge of the last decade. Ten years later, the large amount of DNA sequences accumulated in our databases allows us to look at genome variations between humans. The level of complexity of these variations is much higher than previously expected. It goes from changes in the nucleotidic sequence, such as single nucleotide polymorphisms (SNPs) or copy number variations (CNVs), to modifications in DNA transcription or methylation. Indeed, epigenetics, with chromatin modifications and underlying crosstalk between DNA methylation, histone tails acetylation and non coding RNAs, as microRNAs, all participate to this non-encoded gene expression regulation. Understanding the extent of genomic diversity between humans and linking it to phenotypes and diseases, unravelling the environmental exposures that may be detrimental for our health is the next challenge of the geneticists. The decrypting of the epigenome and the exposome is now on its way.
journal_name
Swiss Med Wklyjournal_title
Swiss medical weeklyauthors
Paoloni-Giacobino Adoi
10.4414/smw.2011.13321subject
Has Abstractpub_date
2011-12-19 00:00:00pages
w13321eissn
1424-7860issn
1424-3997pii
smw-13321journal_volume
141pub_type
杂志文章,评审abstract:QUESTION UNDER STUDY:What are the trends in avoidable cancer mortality in Switzerland and neighbouring countries? METHODS:Mortality data and population estimates 1996-2010 were obtained from the Swiss Federal Statistical Office for Switzerland and the World Health Organization Mortality Database (http://www.who.int/he...
journal_title:Swiss medical weekly
pub_type: 杂志文章
doi:10.4414/smw.2015.14184
更新日期:2015-10-02 00:00:00
abstract:PRINCIPLES:A decrease in plasma lipids occurs during severe sepsis and has prognostic implications in critical illness. Whether lipids have prognostic implications or could help to differentiate community-acquired pneumonia from other lower respiratory tract infections remains unknown. METHODS:We analysed data from pa...
journal_title:Swiss medical weekly
pub_type: 杂志文章
doi:smw-12494
更新日期:2009-03-21 00:00:00
abstract:BACKGROUND:Neuroendocrine neoplasms (NENs) are difficult to diagnose. We used SwissNET data to characterise NEN patients followed in the two academic centres of western Switzerland (WS), and to compare them with patients followed in eastern Switzerland (ES) as well as with international guidelines. METHOD:SwissNET is ...
journal_title:Swiss medical weekly
pub_type: 杂志文章
doi:10.4414/smw.2014.13924
更新日期:2014-02-19 00:00:00
abstract:QUESTIONS UNDER STUDY:The unexpected death of a preterm infant is an extremely painful situation for parents. Despite a number of quantitative studies, little is known about parents' inner experience. The aim of this study was to gather more in-depth information about what preoccupies parents in this situation of suffe...
journal_title:Swiss medical weekly
pub_type: 杂志文章
doi:2007/27/smw-11868
更新日期:2007-07-14 00:00:00
abstract:PRINCIPLES:Analysis of the spatial distribution of mortality data is important for identification of high-risk areas, which in turn might guide prevention, and modify behaviour and health resources allocation. This study aimed to update the Swiss mortality atlas by analysing recent data using Bayesian statistical metho...
journal_title:Swiss medical weekly
pub_type: 杂志文章
doi:10.4414/smw.2016.14280
更新日期:2016-02-22 00:00:00
abstract:BACKGROUND:Extracorporeal photopheresis (ECP) has been reported to be safe and the ultimate treatment option in lung transplant recipients with chronic lung allograft dysfunction (CLAD), the main overall cause of mortality in lung transplant recipients. However, ECP is not reimbursed in selected health jurisdictions, a...
journal_title:Swiss medical weekly
pub_type: 杂志文章
doi:10.4414/smw.2017.14429
更新日期:2017-03-13 00:00:00
abstract:PRINCIPLES:We aimed to evaluate the efficacy of, and treatment satisfaction with, insulin glargine administered with SoloSTAR® or ClikSTAR® pens in patients with type 2 diabetes mellitus managed by primary care physicians in Switzerland. METHODS:A total of 327 patients with inadequately controlled type 2 diabetes were...
journal_title:Swiss medical weekly
pub_type: 杂志文章
doi:10.4414/smw.2015.14114
更新日期:2015-03-05 00:00:00
abstract::Increased survival rates after orthotopic liver transplantation (OLT) in patients with end-stage liver disease have become possible due to an advanced understanding of the pathophysiology of liver disease, the establishment of multiorgan procurement and preservation techniques, and the development of safer and more po...
journal_title:Swiss medical weekly
pub_type: 杂志文章,评审
doi:2007/13/smw-11681
更新日期:2007-04-07 00:00:00
abstract:OBJECTIVES:To compare the long-term effects of comprehensive outpatient versus inpatient rehabilitation with respect to morbidity and mortality, as well as to changes in physical performance and physical activity. DESIGN:A total of 163 consecutive patients were enrolled for comprehensive cardiac rehabilitation (CCR) f...
journal_title:Swiss medical weekly
pub_type: 杂志文章
doi:10.4414/smw.2010.13141
更新日期:2011-01-06 00:00:00
abstract::Depending on the populations studied and the definitions applied, the prevalence of treatment-resistant hypertension varies from 10% to 15%, but is higher in conditions associated with increased sympathetic drive, such as obesity, obstructive sleep apnoea, diabetes or renal dysfunction. The Symplicity studies recently...
journal_title:Swiss medical weekly
pub_type: 杂志文章,评审
doi:10.4414/smw.2012.13638
更新日期:2012-07-17 00:00:00
abstract:BACKGROUND:Epidemiological studies focusing on first-ever seizures have been carried out mainly on community based populations. However, since hospital populations may display varying clinical features, we prospectively analysed patients with first-ever seizure in a hospital based community to evaluate prognosis and th...
journal_title:Swiss medical weekly
pub_type: 杂志文章
doi:2004/39/smw-10738
更新日期:2004-10-02 00:00:00
abstract:OBJECTIVE:To assess the presence of Mycoplasma pneumoniae-associated encephalitis in children in Switzerland and its likely pathogenesis. METHODS:M. pneumoniae-associated encephalitis cases seen at a single-centre during 2010-2013 were reviewed, and the Swiss Paediatric Surveillance Unit (SPSU) prospectively conducted...
journal_title:Swiss medical weekly
pub_type: 杂志文章
doi:10.4414/smw.2016.14222
更新日期:2016-01-11 00:00:00
abstract:BACKGROUND:Ehlers-Danlos syndrome (EDS) is a heterogeneous group of rare inherited diseases involving connective tissue. Vascular EDS (vEDS) is associated with abnormal type III collagen, which is an essential component of skin, hollow organs and arterial walls, and causes potentially fatal visceral and arterial compli...
journal_title:Swiss medical weekly
pub_type: 杂志文章
doi:10.4414/smw.2020.20379
更新日期:2020-12-05 00:00:00
abstract:BACKGROUND:In Switzerland, intravenous drug use accounts for the majority of hepatitis C virus (HCV) infections. Early HCV treatment prevents further transmissions and reduces morbidity and mortality due to decompensated liver cirrhosis and hepatocellular carcinoma. Nevertheless, patients in drug substitution programme...
journal_title:Swiss medical weekly
pub_type: 杂志文章
doi:10.4414/smw.2017.14544
更新日期:2017-11-20 00:00:00
abstract:PURPOSE:To study the association between maternal smoking during pregnancy and low birth weight (LBW), small-for-gestational-age birth weight (SGA) and preterm birth, and to quantify the population-attributable fractions for these outcomes in Switzerland. METHODS:Data were gathered for all births in the Canton of Vaud...
journal_title:Swiss medical weekly
pub_type: 杂志文章
doi:2005/35/smw-11122
更新日期:2005-09-03 00:00:00
abstract:BACKGROUND:The number of individuals with autoimmune inflammatory rheumatic diseases (AIIRDs) treated with immunosuppressive drugs is increasing steadily. The variety of immunosuppressive drugs and, in particular, biological therapies is also rising. The immunosuppressants, as well as the AIIRD itself, increase the ris...
journal_title:Swiss medical weekly
pub_type: 杂志文章
doi:10.4414/smw.2015.14159
更新日期:2015-07-28 00:00:00
abstract:BACKGROUND:Although most experts recommend empirical antibiotic treatment, covering also atypical bacteria, for patients admitted to an intensive care unit (ICU), the data are not clear for patients admitted to a general ward. European guidelines recommend starting empirical treatment with a beta-lactam antibiotic with...
journal_title:Swiss medical weekly
pub_type: 杂志文章
doi:10.4414/smw.2013.13870
更新日期:2013-09-19 00:00:00
abstract::A nationwide survey was conducted in Switzerland to assess the quality level of osteoporosis management in patients aged 50 years or older presenting with a fragility fracture to the emergency ward of the participating hospitals. Eight centres recruited 4966 consecutive patients who presented with one or more fracture...
journal_title:Swiss medical weekly
pub_type: 杂志文章
doi:/aop/smw-aop12294
更新日期:2008-11-15 00:00:00
abstract:PURPOSE:There is increasing pressure on general practitioners (GPs) to identify patients with abdominal obesity in order to reduce the life-threatening consequences of this condition in the population. We aimed to confirm previous findings on the inaccuracy of anthropometric measurements performed by GPs in an academic...
journal_title:Swiss medical weekly
pub_type: 杂志文章
doi:10.4414/smw.2015.14115
更新日期:2015-02-21 00:00:00
abstract:OBJECTIVES:First, to test whether current injury is more closely related to acute intake than to usual consumption patterns, and second, to test whether repeated injury is more closely related to general consumption patterns than to acute intake. METHODS:Screening of alcohol consumption of 7,872 patients enrolling bet...
journal_title:Swiss medical weekly
pub_type: 杂志文章
doi:2007/45/smw-11697
更新日期:2007-11-17 00:00:00
abstract:BACKGROUND:In Switzerland, patients may undergo "blood tests" without being informed what these are screening for. Inadequate doctor-patient communication may result in patient misunderstanding. We examined what patients in the emergency department (ED) believed they had been screened for and explored their attitudes t...
journal_title:Swiss medical weekly
pub_type: 杂志文章
doi:10.4414/smw.2015.14206
更新日期:2015-12-04 00:00:00
abstract:BACKGROUND:A clinical research application must be submitted for approval by a competent ethics committee (EC) before a study can be executed. There is very limited information on how such submissions could be optimised, especially regarding research in children and adolescents, which requires particular caution and ag...
journal_title:Swiss medical weekly
pub_type: 杂志文章
doi:10.4414/smw.2020.20267
更新日期:2020-06-19 00:00:00
abstract::The differential diagnosis for children with diabetes includes a group of monogenic diabetic disorders known as maturity-onset diabetes of the young (MODY). So far, six underlying gene defects have been identified. The most common subtypes are caused by mutations in the genes encoding the transcription factor HNF-1a (...
journal_title:Swiss medical weekly
pub_type: 杂志文章
doi:2005/23/smw-11030
更新日期:2005-06-11 00:00:00
abstract:QUESTIONS UNDER STUDY:In view of the alarming trend in childhood obesity (O) and overweight (OW) observed in certain countries, the aim of the study is to measure the prevalence of O and OW in successive cohorts of elementary school children in Geneva. METHODS:All 5-6-year-old children attending public schools in the ...
journal_title:Swiss medical weekly
pub_type: 杂志文章
doi:10.4414/smw.2010.13040
更新日期:2010-07-22 00:00:00
abstract:OBJECTIVES:Tonsillectomy is one of the most frequently performed surgical procedures. Nevertheless there is less known about the impact of this procedure on Health-Related Quality of life (HRQOL). The two different most common used surgical techniques are "cold" (CT) and "hot" (HT) tonsillectomy. The aim of this study ...
journal_title:Swiss medical weekly
pub_type: 杂志文章
doi:2007/31/smw-11735
更新日期:2007-08-11 00:00:00
abstract:OBJECTIVES:Epidemological studies suggest that farmers are at an increased risk for chronic obstructive pulmonary disease because of exposure to organic dust. We assessed the proportion of farmers among patients with end stage lung disease and we measured the seasonal exposure of dairy farmers to organic dust in a rura...
journal_title:Swiss medical weekly
pub_type: 杂志文章
doi:2002/13/smw-09892
更新日期:2002-04-06 00:00:00
abstract:OBJECTIVES:The sero-prevalence of co-infection with the hepatitis B virus (HBV) and the hepatitis D virus (HDV) is well known in many European countries, starting from 6.8% in Germany to more than 27% in some Turkish areas. To gain a better description of this infection in Switzerland, and to characterise those affecte...
journal_title:Swiss medical weekly
pub_type: 杂志文章
doi:10.4414/smw.2011.13176
更新日期:2011-03-18 00:00:00
abstract:INTRODUCTION:Effort-reward imbalance (ERI) and work-life imbalance (WLI) are recognised risk factors for work stress and burnout but have not been investigated conjointly so far and compared with each other in this regard. The present cross-sectional study provides initial evidence by studying associations of ERI and W...
journal_title:Swiss medical weekly
pub_type: 杂志文章
doi:10.4414/smw.2012.13577
更新日期:2012-05-31 00:00:00
abstract:BACKGROUND:Nasopharyngeal carcinoma is a rare tumor entity in Switzerland. In contrast, it is endemic in Asian and African countries. Retrospective studies have been conducted in order to identify risk factors and prognostic determinants of nasopharyngeal carcinoma. Nonetheless, these trials were mostly conducted in re...
journal_title:Swiss medical weekly
pub_type: 杂志文章
doi:smw-12844
更新日期:2010-05-01 00:00:00
abstract:QUESTIONS UNDER STUDY:Measuring the patient safety climate in the organisation of healthcare can help to identify problematic issues with a view to improving patient safety. We aimed (1) to describe the nurse-reported engagement in safety behaviours, (2) to describe the prevailing nurse-reported patient safety climate ...
journal_title:Swiss medical weekly
pub_type: 杂志文章,多中心研究
doi:10.4414/smw.2012.13501
更新日期:2012-01-20 00:00:00