Pain perception is a vital protective mechanism.1 However, chronic pain, maladaptive and persistent, constitutes a major disease burden.2 Reliance on opioid analgesics is fraught with risks of ...

Purpose and scope The aim of this position statement is to provide recommendations aimed at Canadian reproductive care clinicians and genetics professionals regarding the use of reproductive carrier ...

Purpose Facioscapulohumeral muscular dystrophy (FSHD) is a common adult muscular dystrophy. Over 95% of FSHD cases are associated with contraction of the D4Z4 tandem repeat (~3.3 kb per unit) at 4q35 ...

Background Two recombinant enzymes (agalsidase alfa 0.2 mg/kg/every other week and agalsidase beta 1.0 mg/kg/every other week) have been registered for the treatment of Fabry disease (FD), at equal ...

3 Institute of Medical Genetics for Wales, University of Wales College of Medicine, Cardiff CF14 4XN, UK 4 Reproductive Biology and Genetics Group, University of Birmingham, The Medical School, ...

Background Prader-Willi syndrome (PWS) is due to errors in genomic imprinting. PWS is recognised as the most common known genetic cause of life-threatening obesity. This report summarises the ...

1 Division of Respirology, Department of Medicine, St Michael's Hospital, University of Toronto, Toronto, Ontario, Canada 2 Li Ka Shing Knowledge Institute, St Michael's Hospital, University of ...

Background The multifactorial Breast and Ovarian Analysis of Disease Incidence and Carrier Estimation Algorithm (BOADICEA) breast cancer risk prediction model has been recently extended to consider ...

Professor G Moore, Institute of Child Health, University College London, 30 Guilford Street, London WC1N 1EH, UK; gmoore{at}ich.ucl.ac.uk Silver–Russell syndrome (SRS MIM180860) is a disorder ...

Reproductive carrier screening for genetic disorders: position statement of the Canadian College of Medical Geneticists ...

Correspondence to Professor Sahar Mansour, SW Thames Regional Genetics Service, St George's Hospital, London SW17 0RE, UK; smansour{at}sgul.ac.uk Primary lymphatic anomalies may present in a myriad of ...

Division of Paediatric Surgery, Department of Surgery, Li Ka Shing Faculty of Medicine of the University of Hong Kong, Hong Kong SAR, China If you wish to reuse any ...