Abstract:
:The humble house mouse has long been a workhorse model system in biomedical research. The technology for introducing site-specific genome modifications led to Nobel Prizes for its pioneers and opened a new era of mouse genetics. However, this technology was very time-consuming and technically demanding. As a result, many investigators continued to employ easier genome manipulation methods, though resulting models can suffer from overlooked or underestimated consequences. Another breakthrough, invaluable for the molecular dissection of disease mechanisms, was the invention of high-throughput methods to measure the expression of a plethora of genes in parallel. However, the use of samples containing material from multiple cell types could obfuscate data, and thus interpretations. In this review we highlight some important issues in experimental approaches using mouse models for biomedical research. We then discuss recent technological advances in mouse genetics that are revolutionising human disease research. Mouse genomes are now easily manipulated at precise locations thanks to guided endonucleases, such as transcription activator-like effector nucleases (TALENs) or the CRISPR/Cas9 system, both also having the potential to turn the dream of human gene therapy into reality. Newly developed methods of cell type-specific isolation of transcriptomes from crude tissue homogenates, followed by detection with next generation sequencing (NGS), are vastly improving gene regulation studies. Taken together, these amazing tools simplify the creation of much more accurate mouse models of human disease, and enable the extraction of hitherto unobtainable data.
journal_name
Swiss Med Wklyjournal_title
Swiss medical weeklyauthors
Kaczmarczyk L,Jackson WSdoi
10.4414/smw.2015.14186subject
Has Abstractpub_date
2015-10-29 00:00:00pages
w14186eissn
1424-7860issn
1424-3997pii
smw-14186journal_volume
145pub_type
杂志文章,评审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::The anti-inflammatory genes, haem oxygenase 1 (HO-1, HMOX1) rs2071746 (unrestricted model: p = 9.07 × 10-4; recessive model: p = 4.99 × 10-4; multiplicative model: p = 0.0009; and additive model: p = 1.87 × 10-4) and interleukin-10 (IL-10) rs1800872 (dominant model: p = 0.0277) have been associated with paediatric inf...
journal_title:Swiss medical weekly
pub_type: 杂志文章
doi:10.4414/smw.2017.14456
更新日期:2017-08-02 00:00:00
abstract:PRINCIPLES:Cardiac myxoma is the most commonly diagnosed cardiac tumour. Infection of herpes simplex virus 1 (HSV1) has been postulated to be a factor for this pathologic entity. The aim of the current study was to evaluate the association between HSV 1 and myxoma occurrence. METHODS:Between 1965 and 2005, 70 patients...
journal_title:Swiss medical weekly
pub_type: 杂志文章
doi:10.4414/smw.2011.13223
更新日期:2011-08-26 00:00:00
abstract:OBJECTIVE:Regular checking of the fitness to drive of elderly car-license holders is required in some countries, and this will become increasingly important as more countries face aging populations. The present study investigated whether the analysis of saccadic eye movements could be used as a screening method for the...
journal_title:Swiss medical weekly
pub_type: 杂志文章
doi:10.4414/smw.2015.14098
更新日期:2015-02-09 00:00:00
abstract:BACKGROUND:Evaluation of the current clinical treatment of psoriasis in Switzerland remains to be measured with the parameters cost-of-illness and quality of life. OBJECTIVE:To obtain data on out-of-pocket expenses, costs of outpatient/office-based care and inpatient care for psoriasis, and to extrapolate total costs ...
journal_title:Swiss medical weekly
pub_type: 杂志文章
doi:smw-12756
更新日期:2010-02-06 00:00:00
abstract:PRINCIPLES:Drugs that either inhibit prostaglandin synthesis or antagonise angiotensin II effects are likely to impair renal function, especially in patients with an activated renin-angiotensin-aldosterone system. Of the former, nonsteroidal anti-inflammatory drugs (NSAIDs) are widely used, and newer agents with cycloo...
journal_title:Swiss medical weekly
pub_type: 杂志文章
doi:2001/13/smw-09680
更新日期:2001-04-07 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::Congenital tuberculosis was first suspected in a premature infant with patent ductus arteriosus (PDA), progressive respiratory distress and septic shock, when an enlarged mediastinal lymph node was noted intraoperatively at the time of PDA ligature. Culture revealed Mycobacterium tuberculosis. The asymptomatic mother ...
journal_title:Swiss medical weekly
pub_type: 杂志文章
doi:2002/41/smw-10101
更新日期:2002-11-23 00:00:00
abstract::Each year, over 5 million people die worldwide from stroke, and at least every sixth patient who survives will experience another stroke within five years [1]. We are therefore eager to advance early and rapid diagnosis, prognosis and optimal risk stratification, as well as secondary prevention. In this context, blood...
journal_title:Swiss medical weekly
pub_type: 杂志文章,评审
doi:10.4414/smw.2015.14138
更新日期:2015-05-29 00:00:00
abstract:BACKGROUND:High quality chest compression is one of the key factors in successful resuscitation. A high standard of training is therefore decisive. We aimed to investigate the strengths and weaknesses of teaching chest compression in a study designed to highlight where targeted improvements in the quality of our chest ...
journal_title:Swiss medical weekly
pub_type: 杂志文章
doi:10.4414/smw.2011.13221
更新日期:2011-07-01 00:00:00
abstract:QUESTIONS UNDER STUDY:Teenage and young adult (TYA) cancer patients are faced with the diagnosis during a challenging period of psychosocial development that may affect social outcomes in the long term. Therefore, we aimed to: (1) determine differences in social outcomes between long-term TYA cancer survivors and healt...
journal_title:Swiss medical weekly
pub_type: 杂志文章
doi:10.4414/smw.2017.14419
更新日期:2017-03-07 00:00:00
abstract::Osteoporosis is complicated by the occurrence of fragility fractures. Over past years, various treatment options have become available, mostly potent antiresorptive agents such as bisphosphonates and denosumab. However, antiresorptive therapy cannot fully and rapidly restore bone mass and structure that has been lost ...
journal_title:Swiss medical weekly
pub_type: 杂志文章,评审
doi:10.4414/smw.2014.13952
更新日期:2014-06-04 00:00:00
abstract:OBJECTIVE:The methods used to diagnose and classify ovarian cancer have changed over the past decade. We used hospital registry data to assess the incidence, treatment durations and hospital costs of ovarian cancer in Switzerland. METHODS:We carried out a retrospective analysis of a hospital registry covering all inpa...
journal_title:Swiss medical weekly
pub_type: 杂志文章
doi:10.4414/smw.2018.14647
更新日期:2018-07-29 00:00:00
abstract:BACKGROUND:In contrast to quality of life, patient satisfaction on chronic haemodialysis (HD) and peritoneal dialysis (PD) has only rarely been studied. PATIENTS AND METHODS:All chronic HD and PD patients of the 19 centres located in western Switzerland were asked to complete a specific questionnaire, assessing dialys...
journal_title:Swiss medical weekly
pub_type: 杂志文章,多中心研究
doi:2006/13/smw-11180
更新日期:2006-04-01 00:00:00
abstract:QUESTION UNDER STUDY:The present study aimed to compare the prevalence of work-life conflicts and the health status of physicians, with a representative sample of university graduates as well as with a representative sample of the general Swiss working population. Furthermore, it aimed to analyse whether work-life conf...
journal_title:Swiss medical weekly
pub_type: 杂志文章
doi:10.4414/smw.2010.13063
更新日期:2010-07-11 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: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:PRINCIPLES:Low response rates are common in primary care research. Our study examines the representativeness of respondents in a survey among general practitioners (GPs). One special aim was to evaluate the representativeness of the subgroup of GP teachers for undergraduates (GPTUs) and to investigate the option of a p...
journal_title:Swiss medical weekly
pub_type: 杂志文章
doi:10.4414/smw.2012.13537
更新日期:2012-03-19 00:00:00
abstract::Vascular procedures are rarely complicated by infection, but if prosthetic vascular graft infection (PVGI) occurs, morbidity and mortality are high. Several patient-related, surgery-related and postoperative risk factors are reported, but they are not well validated. PVGI is due to bacterial colonisation of the wound ...
journal_title:Swiss medical weekly
pub_type: 杂志文章,评审
doi:10.4414/smw.2013.13754
更新日期:2013-01-24 00:00:00
abstract:QUESTION UNDER STUDY:To investigate the change over time in the number of ED admissions with positive blood alcohol concentration (BAC) and to evaluate predictors of BAC level. METHODS:We conducted a single site retrospective study at the ED of a tertiary referral hospital (western part of Switzerland) and obtained al...
journal_title:Swiss medical weekly
pub_type: 杂志文章
doi:10.4414/smw.2014.13982
更新日期:2014-08-07 00:00:00
abstract:INTRODUCTION:Acute bronchiolitis is the most common lower respiratory tract infection in the first year of life. Current expert opinion and scientific data suggest that pharmaceutical agents have little impact on the natural course of the disease. METHODS:Postal questionnaires were sent to all Swiss paediatricians to ...
journal_title:Swiss medical weekly
pub_type: 杂志文章
doi:2003/01/smw-10093
更新日期:2003-01-11 00:00:00
abstract::Kras, a small intracellular GTPase, is a central intermediary of the epidermal growth factor receptor (EGFR) and other tyrosine kinase receptor pathways. Increased EGFR and Kras signalling is involved in colorectal carcinogenesis and tumour progression. Mutations of Kras result in the loss of its GTPase activity and t...
journal_title:Swiss medical weekly
pub_type: 杂志文章,评审
doi:10.4414/smw.2010.13112
更新日期:2010-11-19 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:B-type natriuretic peptide (BNP) has been proven to be a biochemical marker of severity of congestive heart failure. We are aware of only few papers reporting the association of BNP elevation and pulmonary hypertension (primary, thromboembolic, or as a consequence of chronic obstructive pulmonary disease). L...
journal_title:Swiss medical weekly
pub_type: 杂志文章
doi:2003/37/smw-10367
更新日期:2003-09-26 00:00:00
abstract::Metallothioneins (MTs) are a family of small proteins containing 61-68 amino acids with an unusually high concentration of cysteine. MT-1, the most functional and active MT in humans, has the ability to react with and enhance the detoxification of a number of metals including zinc, mercury, copper and cadmium. MT dysf...
journal_title:Swiss medical weekly
pub_type: 杂志文章
doi:
更新日期:2008-02-09 00:00:00
abstract::The ex utero intrapartum treatment (EXIT) procedure is designed to guarantee sufficient oxygenation for a foetus at risk of airway obstruction. This is achieved by improving lung ventilation, usually by establishing an airway during caesarean delivery whilst preserving the foetal-placental circulation temporarily. Ind...
journal_title:Swiss medical weekly
pub_type: 杂志文章,评审
doi:2007/19/smw-11526
更新日期:2007-05-19 00:00:00
abstract:INTRODUCTION:Data suggest that a substantial proportion of psychotherapists engage in therapist-client sex (TCS), violating national and international ethical guidelines. The objective of our study was to find a new and effective starting point for preventive interventions. METHOD:Using an online questionnaire, this s...
journal_title:Swiss medical weekly
pub_type: 杂志文章
doi:10.4414/smw.2015.14099
更新日期:2015-02-04 00:00:00
abstract::Alzheimer's disease (AD) is a neurodegenerative disorder and the most common cause for dementia, which affects approximately 120 thousand people in Switzerland and 35 million worldwide. Aging is a major risk factor for developing AD and thus, as our societies are growing older, we face great challenges to find treatme...
journal_title:Swiss medical weekly
pub_type: 杂志文章,评审
doi:10.4414/smw.2015.14233
更新日期:2015-12-23 00:00:00
abstract::Pulmonary arterial hypertension (PAH) is a vascular disease of unknown aetiology, characterised by an abnormal thickening of the arterial wall that is responsible for an increase in pulmonary vascular resistance. The haemodynamic consequence of PAH is an increased afterload for the right ventricle and, eventually, rig...
journal_title:Swiss medical weekly
pub_type: 杂志文章
doi:10.4414/smw.2016.14305
更新日期:2016-05-31 00:00:00
abstract:QUESTION UNDER STUDY:Type 2 diabetes mellitus (T2Dm) is a chronic disease with great economic impact. In 2009, the Swiss Society for Endocrinology and Diabetes (SSED) published recommendations for treatment of T2Dm. In Switzerland, few data are currently available on metabolic control and physician compliance with trea...
journal_title:Swiss medical weekly
pub_type: 杂志文章
doi:10.4414/smw.2013.13871
更新日期:2013-10-25 00:00:00