Mouse-based genetic modeling and analysis of Down syndrome
<span class="paragraphSection"><div class="boxTitle">Introduction</div>Down syndrome (DS), caused by human trisomy 21 (Ts21), can be considered as a prototypical model for understanding the effects of chromosomal aneuploidies in other diseases. Human chromosome 21 (Hsa21) is syntenically conserved with three regions in the mouse genome.<div class="boxTitle">Sources of data</div>A review of recent advances in genetic modeling and analysis of DS. Using Cre/<span style="font-style:italic;">loxP</span>-mediated chromosome engineering, a substantial number of new mouse models of DS have...
Source: British Medical Bulletin - December 8, 2016 Category: Journals (General) Source Type: research
Cryoablation of atrial fibrillation
<span class="paragraphSection"><div class="boxTitle">Background</div>Atrial fibrillation (AF) affects 1–2% of the population, and its prevalence is estimated to at least double in the next 50 years as the population ages.<div class="boxTitle">Areas of agreement</div>AF results in impaired quality of life and even increased mortality. Drugs frequently fail to stabilize sinus rhythm.<div class="boxTitle">Areas of controversy</div>Catheter ablation is a valuable treatment alternative, even as a first-line therapy in selected cases. However, catheter ablation of AF is challenging, ev...
Source: British Medical Bulletin - December 8, 2016 Category: Journals (General) Source Type: research
Apophyseal injuries in children's and youth sports
Introduction
The authors reviewed the current English literature regarding apophyseal injuries affecting young athletes, to highlight the frequency and characteristics of these injuries, to clarify risk factors and specific prevention measures, and to identify future research objectives.
Sources of data
The authors performed a comprehensive search of the medical literature, using the Medline database, including all English articles. Various combinations of the Keywords ‘injury’, ‘sports’, ‘athletic injuries’, ‘avulsion fractures’, ‘physeal’, ‘physis’,...
Source: British Medical Bulletin - December 8, 2016 Category: Journals (General) Authors: Longo, U. G., Ciuffreda, M., Locher, J., Maffulli, N., Denaro, V. Tags: Invited review Source Type: research
Advances in the recognition and management of hereditary cancer
Introduction
Constitutional mutations in genes controlling DNA repair, cell-cycle regulation and cell apoptosis can determine an individual's tendency to develop cancer. Hereditary cancer predisposition syndromes present with multiple cancers at a young age and underlie a significant burden of morbidity and mortality. Recent advances in the recognition and management of hereditary cancer will be illustrated with specific examples of developments in diagnosis and treatment.
Sources of data
Key recent published literature.
Areas of agreement
The identification of individuals with hereditary cancer offers important opportun...
Source: British Medical Bulletin - December 8, 2016 Category: Journals (General) Authors: Kulkarni, A., Carley, H. Tags: Invited review Source Type: research
Mouse-based genetic modeling and analysis of Down syndrome
Introduction
Down syndrome (DS), caused by human trisomy 21 (Ts21), can be considered as a prototypical model for understanding the effects of chromosomal aneuploidies in other diseases. Human chromosome 21 (Hsa21) is syntenically conserved with three regions in the mouse genome.
Sources of data
A review of recent advances in genetic modeling and analysis of DS. Using Cre/loxP-mediated chromosome engineering, a substantial number of new mouse models of DS have recently been generated, which facilitates better understanding of disease mechanisms in DS.
Areas of agreement
Based on evolutionary conservation, Ts21 can be mod...
Source: British Medical Bulletin - December 8, 2016 Category: Journals (General) Authors: Xing, Z., Li, Y., Pao, A., Bennett, A. S., Tycko, B., Mobley, W. C., Yu, Y. E. Tags: Invited review Source Type: research
Cryoablation of atrial fibrillation
Background
Atrial fibrillation (AF) affects 1–2% of the population, and its prevalence is estimated to at least double in the next 50 years as the population ages.
Areas of agreement
AF results in impaired quality of life and even increased mortality. Drugs frequently fail to stabilize sinus rhythm.
Areas of controversy
Catheter ablation is a valuable treatment alternative, even as a first-line therapy in selected cases. However, catheter ablation of AF is challenging, even for experienced operators.
Growing points
Simplification of catheter ablation of AF is essential to decrease the threshold for treatment, broa...
Source: British Medical Bulletin - December 8, 2016 Category: Journals (General) Authors: Hintringer, F. Tags: Invited review Source Type: research
Microbiome, antibiotics and irritable bowel syndrome
Introduction
Irritable bowel syndrome (IBS) is the most prevalent functional gastrointestinal (GI) disorder. Increasing evidence implicates the GI microbiota in IBS pathogenesis and its modulation represents an emerging therapeutic strategy.
Sources of data
Original and review articles were identified through selective searches performed on PubMed and Google Scholar.
Areas of agreement
The role of gut microbiota in IBS is supported by evidence from animal and human studies. Randomized controlled trials demonstrate efficacy of the non-systemic antibiotic rifaximin in reducing IBS symptoms.
Areas of controversy
Existing s...
Source: British Medical Bulletin - December 8, 2016 Category: Journals (General) Authors: Ahmad, O. F., Akbar, A. Tags: Invited review Source Type: research
Genetic predisposition to prostate cancer
Introduction
Prostate cancer (PrCa) is the commonest non-cutaneous cancer in men in the UK. Epidemiological evidence as well as twin studies points towards a genetic component contributing to aetiology.
Sources of data
Key recently published literature.
Areas of agreement
A family history of PrCa doubles the risk of disease development in first-degree relatives. Linkage and genetic sequencing studies identified rare moderate–high-risk gene loci, which predispose to PrCa development when altered by mutation. Genome-wide association studies have identified common single-nucleotide polypmorphisms (SNPs), which confer ...
Source: British Medical Bulletin - December 8, 2016 Category: Journals (General) Authors: Benafif, S., Eeles, R. Tags: Invited review Source Type: research
F-18 FDG PET/CT imaging of cardiac and vascular inflammation and infection
Introduction
Inflammation forms an important core of the aetiopathogenic process involved in many diseases affecting the heart and the blood vessels. These diseases include infections as well as inflammatory non-infectious cardiovascular conditions. The common feature of this is invasion of the heart or blood vessel by inflammatory cells. F-18 2-fluoro 2-deoxy-D glucose (FDG) is an analogue of glucose and like glucose it is taken up by activated inflammatory cells that accumulate at the site of infection. This has formed the basis of the use of F-18 FDG PET/CT in the non-invasive evaluation of human inflammatory diseases.
...
Source: British Medical Bulletin - December 8, 2016 Category: Journals (General) Authors: Lawal, I., Sathekge, M. Tags: Invited review Source Type: research
Sugar and Type 2 diabetes
Background
Consumption of sugar, specifically sugar-sweetened beverages, has been widely held responsible by the media for the global rise in Type 2 diabetes (T2DM).
Sources of data
Systematic reviews and dietary guidelines relating dietary sugars to T2DM.
Areas of agreement
Weight gain and T2DM incidence are associated with diet and lifestyle patterns characterized by high consumptions of any sweetened beverages. High sugar intakes impair risk factors for macrovascular complications of T2DM.
Areas of controversy
Much of the association between sugars and T2DM is eliminated by adjusting data for body mass index (BMI). H...
Source: British Medical Bulletin - December 8, 2016 Category: Journals (General) Authors: Lean, M. E. J., Te Morenga, L. Tags: Invited review Source Type: research
Targeted response? An exploration of why ambulance services find government targets particularly challenging
This article explores some areas of this multifaceted problem.
Sources of data
Research articles, government publications and published audit data.
Areas of agreement
Demand is increasing in many areas of healthcare, but whilst hospitals saw a 7% increase in demand in recent times, ambulance services saw nearly double that. The services ambulance trusts provide have evolved from that of a transport service to that of a mobile health provider, and they have become victims of their own success.
Areas of controversy
Ambulance targets have never evolved to match evolving care. Ambulance personnel strive to avoid hospital at...
Source: British Medical Bulletin - December 8, 2016 Category: Journals (General) Authors: Durham, M., Faulkner, M., Deakin, C. Tags: Invited review Source Type: research
Globalizing and crowdsourcing biomedical research
Introduction or background
Crowdfunding and crowdsourcing of medical research has emerged as a novel paradigm for many biomedical disciplines to rapidly collect, process and interpret data from high-throughput and high-dimensional experiments. The novelty and promise of these approaches have led to fundamental discoveries about RNA mechanisms, microbiome dynamics and even patient interpretation of test results. However, these methods require robust training protocols, uniform sampling methods and experimental rigor in order to be useful for subsequent research efforts. Executed correctly, crowdfunding and crowdsourcing can...
Source: British Medical Bulletin - December 8, 2016 Category: Journals (General) Authors: Afshinnekoo, E., Ahsanuddin, S., Mason, C. E. Tags: Invited review Source Type: research
China: the tipping point in tobacco control
Background
Tobacco control in China, the world's largest producer and consumer of tobacco, began in the 1980s with the first national prevalence survey and a conference on tobacco held in Tianjin. Since then, there have been dozens of research papers, partial restrictions on smoking and tobacco advertising, public education campaigns, and the ratification of the World Health Organization Framework Convention on Tobacco Control, but progress has been slow. The state-owned tobacco industry remains a major obstacle to tobacco control.
Recent developments
In the last few years, tobacco control efforts have accelerated beyond ...
Source: British Medical Bulletin - December 8, 2016 Category: Journals (General) Authors: Mackay, J. Tags: Invited review Source Type: research
The miracle of face transplantation after 10 years
Introduction
At the 10th year anniversary of the first face transplantation, there are currently 36 patients worldwide, who are the recipients of faces coming from human donors.
Areas of agreement
Despite the initial debates and ethical concerns, face transplantation became a clinical reality with satisfactory functional outcomes.
Areas of controversy
The areas of controversy still include the impact of lifelong immunosuppression on otherwise healthy patients as well as the selection process of face transplant candidates.
Growing points
Other concerns include financial support for this new generation of transplants as w...
Source: British Medical Bulletin - December 8, 2016 Category: Journals (General) Authors: Siemionow, M. Tags: Invited review Source Type: research
In this issue Volume 120
(Source: British Medical Bulletin)
Source: British Medical Bulletin - December 8, 2016 Category: Journals (General) Authors: Vetter, N. Tags: Editor ' s Choice Source Type: research
