Psychiatry: past, present and prospect
Sidney Bloch, Stephen A Green, Jeremy Holmes
Australia: Oxford University Press, 2014
In this book, the groundbreaking work of Mendel, Crick and Watson is extended into the ‘human genome age’. The availability of sophisticated investigative techniques has enabled researchers to interrogate human genetic characteristics to determine more subtle and multigenic factors in human disease. These techniques have been applied to the investigation of the genetic determinants of type 2 diabetes (T2DM) and obesity.
A number of findings are of particular interest. Genome-wide association studies (GWAS) have identified 70 genomic regions associated with T2DM predisposition. However, this is associated with only 5–10% of T2DM predisposition. There were few ethnic differences. Fine mapping of the T2DM susceptibility loci and whole genome and exome sequencing are providing insights into the relative contribution of common (weakly associated) and low-frequency (more strongly associated) variants of T2DM risk. GWAS of glycaemic and obesity traits suggest that for glycaemia the strongest factors relate to insulin secretion rather than insulin resistance; those related to obesity (as measured by body mass index) are located near genes expressed in the brain and hypothalamus; those associated with fat distribution are associated with genes that act in peripheral tissues affecting metabolic factors such as adipogenesis.
Next-generation sequencing is being used to characterise single-gene mutations that cause various forms of monogenic diabetes and are important because of their treatment implications. These most commonly involve mutations in transcription factors HNF1α and HNF4α, which affect insulin secretion, and are treated with low-dose sulphonylureas. Glucokinase abnormalities, whereby the body’s ‘glucostat’ is reset upwards, are benign and require no treatment. Forms of neonatal diabetes, diagnosed at age <6 months, and in some instances associated with other abnormalities, are treated with high-dose sulphonylureas.
Potential mechanisms for epigenetic modifications, whereby genes and environment interact to modify T2DM risk, are discussed in this book, particularly in relation to obesity and physical inactivity, as well as the fetal environment.
This book has been written by researchers at the forefront of their field. The chapters are logically sequenced and provide information that is up-to-date and of potential future relevance and importance to clinical practice. However, it is highly technical and hard to digest. While it would be of interest to geneticists and diabetes researchers, it is not a book that will influence current diabetes care and, as such, will not be a useful addition to a clinician’s personal library.
Dr Sivasankaran Balaratnasingam
Regional Psychiatrist, Kimberley Mental Health & Drug Service,
Broome, Western Australia
School of Psychiatry & Clinical Neurosciences,
University of Western Australia
Gabor Szinnai, Editor
Basel: Karger, 2014
ISBN 9783318027204, $372.99
General practitioners (GPs) are frequently dealing with cases of paediatric thyroid disease. For example, congenital hypothyroidism is part of newborn screening, autoimmune thyroid conditions are increasingly common and thyroid nodules are frequently diagnosed on ultrasound. Paediatric thyroidology is a special edition in the ‘Endocrine development’ series dedicated to thyroid disease in children. The first monograph on this topic was published in 1985, and this edition is an update that reflects the enormous advances in every area of this field. Distinguished experts provide reviews on thyroid hormone physiology, congenital hypothyroidism, impaired sensitivity on thyroid hormones, thyroid and the environment, and thyroid cancer. In addition, there is a ‘Clinical case seminar’ with 21 cases.
The chapters in the book are well written, very comprehensive and offer a wealth of information. Figures, illustrations and tables complete the information. Areas to highlight include thyroid physiology, new advances in clinical genetics of congenital hypothyroidism that lead to changes in practice guidelines for newborn screening and information on iodine deficiency in children that is becoming increasingly common in Australia.
The case series provides examples for readers to put the theoretical information in a clinical perspective and is very instructive and enjoyable to read. This covers congenital hypothyroidism, syndromes that include thyroid disease, resistance to thyroid hormone, iodine, autoimmune thyroid diasease and thyroid tumours. The presentation of clinical scenarios and accompanying illustrations are excellent. Each case presentation is followed by key learning points that provide tools for clinical problem solving and key references.
This book successfully summarises advances in our knowlegde on paediatric thyroid disease. It is certainly very valuable for paediatricians and endocrinologists. Importantly it is not too specific and can be recommended for a wider readership. The information is presented in a way that allows the reader to chose their level of involvement. It provides excellent information for GPs to gain background knowledge on various aspects of thyroid disease from newborn age to adolescence. The clinical context is always present and illustrates the relevance of each topic for everyday practice.
Dr Aris Siafarikas
Endocrinology and Diabetes
Princess Margaret Hospital Subiaco,