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:BACKGROUND:Evaluating the effects of a commercially available synbiotic preparation (contains both prebiotic and probiotic elements) on functional constipation in males. METHODS:In a randomised controlled trial, a total of 66 adult men with functional constipation were equally allocated to receive a synbiotic mixture ...
journal_title:Swiss medical weekly
pub_type: 杂志文章,随机对照试验
doi:10.4414/smw.2011.13239
更新日期:2011-07-30 00:00:00
abstract:BACKGROUND:Several publications reported on the safety and efficacy of bortezomib, a novel first-in-class anti-cancer agent, in the treatment of relapsed/refractory multiple myeloma in controlled clinical trials. Complementary data on the experience with bortezomib in daily oncology practice are needed. We report on th...
journal_title:Swiss medical weekly
pub_type: 杂志文章
doi:2007/21/smw-11716
更新日期:2007-06-02 00:00:00
abstract:QUESTION UNDER STUDY:To assess clinical reactions, immune responses and adverse events to undiluted, three- and sixfold diluted Lister strain vaccine stockpiled in Switzerland. METHODS:A prospective, triple-blinded, randomised, parallel group clinical trial was performed. RESULTS:From 2001 to 2007 104 persons with an...
journal_title:Swiss medical weekly
pub_type: 杂志文章,随机对照试验
doi:2008/27/smw-11966
更新日期:2008-07-12 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::Beta-haemolytic streptococci of groups C and G have become increasingly recognized as causes of invasive human infections. We reviewed clinical and molecular characteristics of Streptococcus dysgalactiae isolates that caused bacteraemia in adults from 2006 to 2015. Among 67 episodes, skin and soft-tissue infections (4...
journal_title:Swiss medical weekly
pub_type: 杂志文章
doi:10.4414/smw.2017.14469
更新日期:2017-07-24 00:00:00
abstract::Isolated left ventricular hypertrophy, in the absence of hypertension or aortic stenosis, is commonly attributed to hypertrophic cardiomyopathy (HCM). According to the clinical setting, however, other differential diagnoses should be considered. The diagnosis of cardiac amyloidosis may be very challenging especially w...
journal_title:Swiss medical weekly
pub_type: 杂志文章
doi:2004/19/smw-10584
更新日期:2004-05-15 00:00:00
abstract::The United Nations General Assembly has convened a Summit on non-communicable diseases (NCDs), an historic moment in the global combat of these disorders. Lifestyles in increasingly urban and globalised environments have led to a steep surge in NCD incidence in low and middle income countries, where two thirds of all ...
journal_title:Swiss medical weekly
pub_type: 杂志文章,评审
doi:10.4414/smw.2011.13266
更新日期:2011-09-07 00:00:00
abstract:QUESTIONS UNDER STUDY:In HIV-infected patients, comprehension of medication instructions is an essential condition for adherence to Highly Active Antiretroviral Therapy (HAART). In this study, we used a self-reported questionnaire to know which sources of medication information HIV-infected patients used and their impa...
journal_title:Swiss medical weekly
pub_type: 杂志文章
doi:10.4414/smw.2012.13642
更新日期:2012-07-26 00:00:00
abstract::Although progress has been made in the management of acute leukaemias, most patients who fail to respond to front-line therapies with cytostatic agents and stem cell transplantation, or who relapse after an initial response die from progressive disease. Novel treatment modalities exploiting donor-derived natural kille...
journal_title:Swiss medical weekly
pub_type: 杂志文章,评审
doi:
更新日期:2006-06-10 00:00:00
abstract::Hepatitis C virus (HCV) infection is a leading cause of chronic hepatitis, liver cirrhosis, and hepatocellular carcinoma worldwide. While current therapeutic options for hepatitis C are limited, recent progress in the understanding of the biology of HCV led to the identification of novel targets for antiviral interven...
journal_title:Swiss medical weekly
pub_type: 杂志文章,评审
doi:2001/21/smw-06097
更新日期:2001-06-02 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::Reactive hypoglycaemia is a rare disease which occurs postprandially in everyday life involving blood glucose levels below 2.5 to 2.8 mmol/l. We report on a 66-year-old patient who developed symptomatic reactive hypoglycaemia due to late dumping syndrome 10 years after oesophagectomy with cervical anastomosis. A 75 g ...
journal_title:Swiss medical weekly
pub_type: 杂志文章
doi:2001/05/smw-09667
更新日期:2001-02-10 00:00:00
abstract:BACKGROUND:Up to 30% of patients with chronic obstructive pulmonary disease (COPD) simultaneously suffer from often-unrecognised chronic heart failure (HF). Their timely identification is challenging as both conditions share similar clinical presentations. OBJECTIVE:To assess the performance of BNP in detecting left v...
journal_title:Swiss medical weekly
pub_type: 杂志文章
doi:10.4414/smw.2011.13298
更新日期:2011-11-09 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: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::Advance directives emerged in the 1960s with the goal of empowering people to exert control over their future medical decisions. However, it has become apparent, over recent years, that advance directives do not sufficiently capture the temporal and relational aspects of planning treatment and care. Advance care plann...
journal_title:Swiss medical weekly
pub_type: 杂志文章,评审
doi:10.4414/smw.2018.14706
更新日期:2018-12-30 00:00:00
abstract:AIMS OF THE STUDY:Premature discontinuation occurs in about 25% of randomised clinical trials in Switzerland; it mainly affects investigator-initiated trials and is mostly due to problems with recruitment of patients. The aim of this study was to qualitatively investigate reasons for trial discontinuation due to poor p...
journal_title:Swiss medical weekly
pub_type: 杂志文章
doi:10.4414/smw.2017.14556
更新日期:2017-11-16 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::HMG-CoA reductase inhibitors, or statins, are lipid-lowering agents that have been shown to effectively decrease severe rejection periods and development of transplant coronary artery disease after heart transplantation. Precise regulation of major histocompatibility complex class II (MHC class II) gene expression pla...
journal_title:Swiss medical weekly
pub_type: 杂志文章
doi:2001/03/smw-06144
更新日期:2001-01-27 00:00:00
abstract::With reference to the Year of the Lung, current knowledge of the respiratory effects of current ambient air pollution is reviewed. Acute respiratory effects are well established. Studies such as SAPALDIA and others now shed light on the long-term effects on chronic pathologies and on the health benefit of air quality ...
journal_title:Swiss medical weekly
pub_type: 杂志文章,评审
doi:10.4414/smw.2010.13129
更新日期:2010-11-18 00:00:00
abstract:BACKGROUND:The transition from undergraduate to postgraduate training is a crucial career step for physicians. Several international studies have shown that graduates feel insufficiently prepared to perform various aspects of clinical practice. The publication of a national framework for undergraduate medical education...
journal_title:Swiss medical weekly
pub_type: 杂志文章
doi:10.4414/smw.2020.20370
更新日期:2020-11-24 00:00:00
abstract:QUESTIONS UNDER STUDY / PRINCIPLES:Colonoscopies are complex procedures that depend greatly on the patient's cooperation and on the correct judgment of a tolerable amount of discomfort by the endoscopy team, even in sedated patients. Little is known regarding the accuracy of the patient comfort level assessments made b...
journal_title:Swiss medical weekly
pub_type: 杂志文章
doi:10.4414/smw.2012.13726
更新日期:2012-11-05 00:00:00
abstract:BACKGROUND:To compare the efficacy of two different regimens in treatment of brucellosis. METHODS:This randomised clinical trial study was conducted on 280 patients with brucellosis in Babol, Iran, from April 1999 to January 2002. One of the following two regimens was randomly prescribed for two months: co-trimoxazole...
journal_title:Swiss medical weekly
pub_type: 临床试验,杂志文章,随机对照试验
doi:2004/37/smw-10665
更新日期:2004-09-18 00:00:00
abstract:OBJECTIVES:To determine 1) rates of needlestick and sharps injuries (NSSIs) not reported to occupational health services, 2) reasons for underreporting and 3) awareness of reporting procedures in a Swiss university hospital. MATERIALS AND METHODS:We surveyed 6,367 employees having close clinical contact with patients ...
journal_title:Swiss medical weekly
pub_type: 杂志文章
doi:10.4414/smw.2012.13523
更新日期:2012-02-10 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::Lung transplantation has now been performed for more than 30 years in patients with end-stage chronic obstructive pulmonary disease (COPD). This disease is the major indication for lung transplantation, involving more than one third of the procedures worldwide. Although lung transplantation in COPD patients has clearl...
journal_title:Swiss medical weekly
pub_type: 杂志文章,评审
doi:smw-12377
更新日期:2009-01-10 00:00:00
abstract:OBJECTIVE:The first description of the simplified acute physiology score (SAPS) II dates back to 1993, but little is known about its accuracy in daily practice. Our purpose was to evaluate the accuracy of scoring and the factors that affect it in a nationwide survey. METHODS:Twenty clinical scenarios, covering a broad...
journal_title:Swiss medical weekly
pub_type: 杂志文章,随机对照试验
doi:10.4414/smw.2014.14090
更新日期:2014-12-23 00:00:00
abstract::Antiosteoporotic drugs are recommended in patients with fragility fractures and in patients considered to be at high fracture risk on the basis of clinical risk factors and/or low bone mineral density. As first-line treatment most patients are started with an antiresorptive treatment, i.e. drugs that inhibit osteoclas...
journal_title:Swiss medical weekly
pub_type: 杂志文章
doi:10.4414/smw.2017.14484
更新日期:2017-08-16 00:00:00
abstract::Cells reside in mechanically rich and dynamic microenvironments, and the complex interplay between mechanics and biology is widely acknowledged. Recent research has yielded insights linking the mechanobiology of cells, human physiology, and pathophysiology. In particular, we have learned of the cell's astounding abili...
journal_title:Swiss medical weekly
pub_type: 杂志文章,评审
doi:10.4414/smw.2013.13766
更新日期:2013-03-14 00:00:00
abstract::A 36-year-old male with a known history of sickle cell disease (SCD) and acute chest syndrome (ACS) was treated in our hospital. Gas exchange deteriorated and the patient was transferred to our intensive care unit (ICU). Low dose inhaled nitric oxide (iNO) during pressure controlled mechanical ventilation (pcMV) induc...
journal_title:Swiss medical weekly
pub_type: 杂志文章
doi:2004/11/smw-10521
更新日期:2004-03-20 00:00:00