Genetic determinants of type 2 diabetes mellitus

Type 2 diabetes refers to a group of disparate metabolic diseases, which are typically characterized by insulin resistance in peripheral tissues, together with impaired insulin secretion from pancreatic beta-cells. The complexity of type 2 diabetes is related to factors such as genetic heterogeneity, interactions between genes, and the modulating role played by the environment. Recent progress has included defining the molecular basis of monogenic forms of type 2 diabetes, such as familial partial lipodystrophy and the subtypes of maturity-onset diabetes of the young (MODY), and also the identification of chromosomal regions that may harbor type 2 diabetes susceptibility genes. Many common variants in functional and positional candidate genes, including ADRB3, PPARG, ENPP1, and CAPN10, have also been studied for their possible role as determinants of type 2 diabetes, with varying levels of agreement between studies. The availability of a relatively complete sequence of the human genome will increase the amount of genetic information that can be used to evaluate hypotheses for the genetic basis of type 2 diabetes. To make sense of human type 2 diabetes in the post-genomic era, it is essential to have well-defined phenotypes in addition to sufficient numbers of individuals with the appropriate pedigree structure from families and/or communities.     

Resuscitation at the limits of viability – an Irish perspective

Background:  Advances in neonatal care continue to lower the limit of viability. Decision making in this grey zone remains a challenging process.
Objective:  To explore the opinions of healthcare providers on resuscitation and outcome in the less than 28-week preterm newborn.
Design/Methods:  An anonymous postal questionnaire was sent to health care providers working in maternity units in the Republic of Ireland. Questions related to neonatal management of the extreme preterm infant, and estimated survival and long-term outcome.
Results:  The response rate was 55% (74% obstetricians and 70% neonatologists). Less than 1% would advocate resuscitation at 22 weeks, 10% of health care providers advocate resuscitation at 23 weeks gestation, 80% of all health care providers would resuscitate at 24 weeks gestation. 20% of all health care providers would advocate cessation of resuscitation efforts on 22–25 weeks gestation at 5 min of age. 65% of Neonatologists and 54% trainees in Paediatrics would cease resuscitation at 10 min of age. Obstetricians were more pessimistic about survival and long term outcome in newborns delivered between 23 and 27 weeks when compared with neonatologists. This difference was also observed in trainees in paediatrics and obstetrics.
Conclusion:  Neonatologists, trainees in paediatrics and neonatal nurses are generally more optimistic about outcome than their counterparts in obstetrical care and this is reflected in a greater willingness to provide resuscitation efforts at the limits of viability.     

Digital clubbing: finally, a gene

Mutations in 15-hydroxyprostaglandin dehydrogenase cause primary hypertrophic osteoarthropathy
Uppal et al. (2008)
Nature Genetics 40 (6): 789–793     

假白血病淋巴瘤细胞系

白血病淋巴瘤细胞系是生物医学领域最重要的研究工具之一.然而,近年来的多项研究显示相当数量的人白血病淋巴瘤细胞系为假细胞系或身份不正确.假白血病淋巴瘤细胞系可分为三种类型.第一种是完全的假细胞系,交叉污染发生于细胞系的早期建系阶段,并迅速被具有增殖优势的其他细胞系取代.第二种是身份错误的假细胞系,交叉污染发生于建系后,而真正的原型细胞系可能存在.最后一种是非恶性细胞系.本文对近年来发现的各种假白血病淋巴瘤细胞系作一综述.     

Recommendations for the use of etanercept in psoriasis: a European dermatology expert group consensus

BACKGROUND: Psoriasis is a chronic, inflammatory skin disorder that has a significant impact on quality of life and, particularly in moderate to severe cases, adversely affects the patient's overall health and well-being. Biological treatments, such as etanercept, are being widely adopted across Europe for treatment of moderate to severe psoriasis due to favourable safety and efficacy profiles. The increase in usage, combined with a growing body of clinical evidence, has identified a need to clarify the best use of etanercept within its current treatment label. OBJECTIVE: To prepare a series of recommendations agreed by an expert group of dermatologists, relating to the most effective use of etanercept for psoriasis in Europe, within the product license. METHODS: An expert panel of dermatologists from across Europe completed a Delphi survey to address the current use of etanercept in psoriasis in Europe. In June 2005 the results were presented to the expert panel at their nominal group meeting, and a consensus was agreed. RESULTS: It was recommended that, where possible, patients are initiated on the 50 mg twice-weekly (BIW) dose. Etanercept should be given until remission is achieved (maximum 24 weeks) and retreatment should be initiated according to the physician's judgement. Before commencing treatment, contraindications, such as infection or previous malignancy (within 5 years), should be ruled out. CONCLUSIONS: The consensus presented herein provides valuable clarification of use of etanercept according to the label, which may have wider implications relating to the use of all biological therapies in psoriasis.