Three common CARD15 mutations are not responsible for the pathogenesis of Crohn’s disease in Iranians

Teimoori-Toolabi L, Vahedi H, Mollahajian H, Kamali E, Hajizadeh-Sikaroodi S, Zeinali S, Tabrizian T, Olfati G, Rashtak S, Malekzadeh F, Ghoddosi A, Malekzadeh R

Hepatogastroenterology 2010 Mar-Apr;57(98):275-82

PMID: 20583427

Abstract

BACKGROUND/AIMS: Crohn’s disease frequency has increased in recent years in Iran. Genetic and environmental factors predispose people to this disease. Mutation in Caspase Recruitment Domain 15 (CARD15) gene is the most well known genetic predisposing factor to this disease. Frequency of three common CARD15 mutations has been studied in different ethnic groups. We aimed to study the frequency of these mutations in Iranian patients affected with Crohn’s Disease.

METHODOLOGY: One hundred fifteen proved cases of Crohn Disease and 115 age and sex matched normal controls were recruited in this study. Lf1007fs, R702W and G908R mutations were studied by Polymerase Chain Reaction-Restriction Fragment Length Polymorphims (PCR-RFLP) followed by sequencing the positive cases.

RESULTS: Lf1007fs and G908R mutations were not found in either patients or age-sex matched controls. Just in two patients, R702W mutation was proved by Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP) and sequencing. None of these patients had illeal or fibrostenotic type of disease while 14.7% of total patients had stricturing type of disease. No complication was seen in these two patients while 50.4% of patients had acquired complications during the course of disease.

CONCLUSION: The three mutations described are not responsible for the pathogenesis of Crohn’s Disease in Iranians. The results are in accordance with other Asian nations’ studies on IBD Patients.

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Dr Benjamin Robinson

Mr Benjamin Robinson is an adult cardiothoracic surgeon with a long association with The Baird Institute. Whilst a medical student, he completed honours research with the Baird on outcomes in early-stage non-small cell lung cancer, under the supervision of Professor Brian McCaughan. He was awarded a Baird Institute Fellowship for this work. He subsequently trained in cardiothoracic surgery at Royal Prince Alfred Hospital and was the inaugural Baird Institute – Stanford University exchange scholar. Mr Robinson later completed a cardiac surgery clinical fellowship at Bart’s Heart Centre in London. He then worked as a consultant cardiothoracic surgeon at St. James’s Hospital in Dublin, before returning to Sydney to take up appointments at Royal Prince Alfred, Concord Repatriation General and Strathfield Private Hospitals.

Mr Robinson has experience in the spectrum of adult cardiac surgery, including coronary, valvular and aortic disease, as well as in general thoracic surgery. He has specific clinical interest in minimal access aortic valve surgery, arterial coronary grafting and aortic surgery. He has completed postgraduate study at Cambridge University and has academic interests in surgical outcomes research and epidemiology.

Professor Tristan Yan

Dr Tristan Yan is the Head of Department of Thoracic Surgery at Chris O’Brien Lifehouse. Professor Yan graduated from the University of New South Wales (UNSW) with Bachelor of Science (Medicine), Bachelor of Medicine and Bachelor of Surgery. He also completed three postgraduate higher degrees, Master of Surgery (USyd), Doctor of Medicine (UNSW) and Doctor of Philosophy (UNSW). He was trained at Royal Prince Alfred Hospital and St Vincent’s Hospital in Sydney and then obtained Cardiothoracic Surgery Fellowship from the Royal Australasian College of Surgeons. Following advanced specialty fellowships in the United States, England, Scotland and Germany, he specializes in minimally invasive cardiovascular surgery, and minimally invasive thoracic surgery.

Professor Tristan Yan is dedicated to surgical innovations. He applies the latest pioneering techniques to minimize surgical trauma and access sites and thus achieves a more rapid and comfortable recovery for his patients. He first completed his general surgical fellowship with Paul Sugarbaker in the United States, one of the most prominent surgeons in the world. He was then closely trained by the pioneer of Minimally Invasive Thoracic Surgery, Mr. William Walker, in Edinburgh, where he mastered the technical expertise of video-assisted thoracoscopic surgery (VATS) to perform complex lung resections, such as lobectomy and segmentectomy.

Associate Professor Chris Cao

After completing his medical degree at the University of New South Wales with First Class Honours, Christopher attended his pre-internship at Yale University, USA. He scored 99/99 for his United States Medical Licensing Exam, and completed his Cardiothoracic surgical training in Sydney. Concurrently, Christopher completed his PhD degree with Sydney University, focusing on the surgical management of lung and pleural diseases.

After completing his surgical training with the Royal Australasian College of Surgeons, Christopher was invited to a Fellowship at the Memorial Sloan Kettering Cancer Centre in New York City, one of the largest cancer centres in the world. This was followed by a Fellowship in New York University, where he was asked to join the Faculty in the Department of Cardiothoracic Surgery. His fellowship was focused on robotic and minimally invasive thoracic surgery, treating lung cancers, mediastinal tumours, mesothelioma, and other lung-related diseases. During his 18-month Fellowship at MSKCC and NYU, Christopher was fortunate to work with some of the leading international surgeons, gaining invaluable clinical and academic experience.

With over 100 publications in international peer-reviewed journal articles and book chapters, A/Prof Cao has a keen interest in thoracic surgery, particularly the treatment of lung cancers through minimally invasive surgery. He has made more than 50 presentations in international meetings as a Faculty Member in Paris, New York, Edinburgh, Taipei, Sydney, and Guangzhou. Christopher has personally supervised students and residents from Sydney University, University of New South Wales, Cornell University and New York University.

He is a member of the Australian and New Zealand Society of Cardiac and Thoracic Surgery, and works as a Consultant Surgeon at Lifehouse, Royal Prince Alfred Hospital, Concord Hospital, Sydney Adventist Hospital, and Macquarie University Hospital.

Dr Mike Byrom

Dr Michael Byrom is a modern, innovative cardiothoracic surgeon with training and experience in New Zealand, Australia, the United Kingdom, and Italy. Particular areas of expertise include:

  • Truly minimally-invasive surgery to the aortic valve that avoids complete division of the breast bone (hemi-sternotomy, right anterior mini-thoracotomy); allowing faster recovery and return to normal activities
  • Mitral valve repair with excellent repair rates and outcomes – resulting from diverse training in France, Italy, and the United Kingdom
  • Avoidance of the need for anticoagulation through valve selection, valve repair, and surgical treatment of atrial fibrillation
  • Minimally-invasive lung resection, avoiding a large thoracotomy wound and enabling faster recovery and return to normal activities with reduced pain and discomfort
  • Sternal and rib titanium plate fixation of chronic non-united fractures
  • Performing these procedures while minimising risk of complications, allowing Dr Byrom to achieve world-class results for his patients

Dr Matthew Bayfield

Dr Matthew Bayfield is an extremely experienced cardiothoracic surgeon with a broad range of skills and special interests within his field. He has performed more than 6000 heart and lung procedures. Dr Bayfield has hospital appointments at Strathfield Private Hospital, Royal Prince Alfred Hospital and Concord Hospital. His surgical interests include:

  • Coronary artery surgery: Dr Bayfield is one of Australia’s busiest coronary surgeons; with particular focus on minimal access incisions, and use of in-situ bilateral internal mammary artery grafts for enhanced longevity of the benefit of coronary revascularization.
  • Aortic root and arch surgery: Dr Bayfield has been performing aortic root and arch surgery since 1995, when he completed a Cardiovascular Fellowship at the University of Virginia in the USA. His focus is on o minimal access incisions, short cardiopulmonary bypass times, and for arch surgery antegrade cerebral perfusion with cerebral oxygen saturation monitoring.
  • Surgery for emphysema / CAL: Dr Bayfield was trained in open lung reduction surgery whilst doing a fellowship at the University of Virginia in 1995. Since that time he has developed thoracoscopic techniques for the procedure, and since 2003 been an implanter of endobronchial valves as a minimally invasive alternative to surgery. With over 100 endobronchial valve case experience, and long term follow-up of these patients, he is one of Australia’s most experienced endobronchial valve proceduralist.
  • Correction of pectus defects: Dr Bayfield has a special interest in correction of both pectus and carinatum defects, with techniques including implantation of Nuss bar under video-assisted control, and open radical sternochondroplasty.Lung cancer surgery: Dr Bayfield has been in surgical partnershio with Professor Brian McCaughan since 1996, and was trained by him as a registrar. Prof McCaughan is Australia’s most experienced and prolific lung cancer surgeon, has published widely on many aspects of its treatment, and has been awarded Medal of the Order of Australia (AM) for services to health in respect to his work on malignant mesothelioma.
  • Pacemaker and defibrillator implantation: Dr Bayfield was trained in device implantation as a young surgeon in the 1980’s and has developed skills to ensure that a device can be safely and reliably implanted even in the most difficult case with minimal risk. He was trained in cardiac resynchronzation therapy techniques at the introduction of that technology. He has regular pacemaker and defibrillator implantation lists at Royal Prince Alfred Hospital, Strathfield Private Hospital, and Concord Hospital.
  • Surgical treatment for ischaemic cardiomyopathy: Dr Bayfield trained in heart and lung transplantation whilst at the University of Virginia. With this skill base he has been able to develop a multi-faceted approach to treat patients whose hearts have been damaged by coronary artery disease (heart attack). These therapies include coronary artery bypass, mitral valve repair, and implantation of CRT defibrillators.

Professor Paul Bannon

Professor Paul Bannon is an adult cardiothoracic surgeon of international standing with clinical appointments at Royal Prince Alfred Hospital, Concord and Strathfield Private Hospital. At Royal Prince Alfred Hospital Professor Bannon is the Head of Department of Cardiothoracic Surgery, Co-Chair of the Institute for Academic Surgery, Director of the Robotic Training Institute and the current President of the Medical Officers Association. At the University of Sydney, he holds the inaugural Professorial Chair of Cardiothoracic Surgery and the Bosch Chair of Surgery. He is also the current Head of the Discipline of Surgery for the Sydney Medical School and the Academic Director of the newly opened Translational Research Facility or Hybrid Theatre at the Charles Perkins Centre. He is the Chair of The Baird Institute for Applied Heart and Lung Surgical Research. Professionally he is the Past President of the Australian and New Zealand Society of Cardiothoracic Surgeons (ANZSCTS) and in that role serves on the steering Committee for the ANZSCTS National Cardiac Surgical Database, the National TAVI Accreditation Committee and is the Cardiac Surgical Chair of the Medical Benefits Schedule review program. For the Ministry of Health NSW he has been in the role of Co-Chair of the Cardiac Devices Committee for the Agency of Clinical Innovation.

Professor Bannon graduated from the University of Sydney in 1987, completed a PhD from the same institution in 1998 and was awarded a FRACS (CTh) in 1998. He has a particular passion for translational research in the areas of congenital aortic and mitral valve disease, biomaterials and biocompatibility, limitation of blood product usage in cardiac surgery, the inflammatory response to bypass and the development of academic surgical careers. He has authored or co-authored more than 120 scientific papers, published in peer-reviewed journals. He is co-editor-in-chief of the Annals of Cardiothoracic Surgery, a Medline listed multimedia journal of cardiothoracic surgery. Professor Bannon has a reputation as the ‘surgeons surgeon’ and has particular expertise in surgery of the aortic root and arch, high-risk re-do surgery, total-arterial coronary artery bypass grafting and surgery for hypertrophic cardiomyopathy.

Professor Richmond W. Jeremy

MB BS PHD FRACP FAHA FESC FCSANZ GAICD

Professor Richmond Jeremy’s medical and cardiology training were at the University of Sydney and Royal Prince Alfred Hospital.

His clinical research career includes a PhD on coronary physiology and a post doctoral research Fellowship at Johns Hopkins Hospital, Baltimore before returning to the University of Sydney and Royal Prince Alfred Hospital.

University of Sydney responsibilities have included service as Associate Dean Sydney, Medical School, Head of Central Clinical School and Pro Vice-Chancellor, Campus Infrastructure and Services.

Professional responsibilities have included service as Editor-in-Chief of Heart Lung and Circulation, membership of Boards on National Heart Foundation (NSW), Royal Australasian College of Physicians (Adult Medicine Division) and Cardiac Society of Australia and New Zealand.

Mr. Shaun Clyne

MA LLM (Syd)

Shaun is a corporate lawyer based in Sydney. He is the Australian Head of the Mergers & Acquisitions practice. He regularly advises on a wide range of corporate and securities law issues for public listed companies including takeovers, schemes of arrangement and capital raisings. He advises on Australian Stock Exchange compliance matters and regularly acts for both bidders and targets in connection with takeover bids and schemes of arrangement (hostile and friendly) for ASX-listed companies.

A leading practitioner in equity capital markets, Shaun has also advised numerous companies on their initial public offerings and capital raisings (rights issues, AREO’s, placements, employee share and options plans).

Shaun has presented at a variety of seminars and conferences and published several papers in his areas of specialisation.

His areas of expertise are mergers and acquisitions, corporate advisory and capital markets.

Ms. Joanne Wade

BEc LLB

Joanne Wade has been a plaintiff lawyer since her admission to the Supreme Court of NSW in 1996 and has worked in asbestos litigation for well over 18 years. Joanne is an Accredited Specialist in Personal Injury Law and prides herself on her communication with her clients and, on many occasions, her clients’ families. She understands the importance and need to handle all her cases with the utmost diligence and compassion. Joanne has acted for hundreds of people suffering from mesothelioma, lung cancer, asbestosis and asbestos related pleural disease. Her clients are everyday people who have worked hard all their lives and deserve justice. Joanne acted for Steven Dunning in his claim against BHP Billiton Limited in the Dust Diseases Tribunal of NSW (Dunning vBHP Billiton Limited [2014] NSWDDT 3). Mr Dunning suffered from malignant pleural mesothelioma and in a landmark decision; the court awarded Mr Dunning the highest amount for damages for pain and suffering in NSW. Joanne went on to represent Mr Dunning in the Appeal before the NSW Court ofAppeal where BHP’s appeal was unanimously dismissed (BHPBilliton Limited v Dunning [2015] NSWCA 55). Joanne has also successfully acted for the late Bevan McGrath in his claim against Allianz Australia Insurance Limited, for his condition of asbestos related pleural disease and ensured that case was resolved on a provisional damages basis. Mr McGrath went on to develop mesothelioma, one of only a small number of cases where he then brought a second claim for further damages because his first claim was resolved on a provisional basis. Joanne successfully acted for Mr McGrath in both his claims and the late Mr McGrath successfully received further damages in a judgment by the court (McGrath v Allianz AustraliaInsurance Limited [2011] NSWDDT). The judgement was upheld on appeal (Allianz Australia Insurance Limited v McGrath [2011]NSWCA 153).

“It is with great privilege to work with people suffering from asbestos illnesses, and the greatest satisfaction formed is securing a result for those people to help ease their suffering, and to know their families will be looked after.”Joanne takes great pride in the work Slater and Gordon have undertaken in representing victims of asbestos disease, unions and asbestos support groups, including the work of Ken Fowlie in 2004 who acted for the ACTU and asbestos support groups in negotiations with James Hardie to secure an agreement which will ensure current and future victims of asbestos –related diseases would be fully compensated for years to come.Joanne is a passionate advocate and one thing that separatesJoanne from other lawyers is perspective, with her own father being exposed to asbestos working at Cockatoo IslandDockyard, she is in the unique position of seeing it from both angles.“My clients are generally people who have worked hard all their lives, and are lovely people who deserve justice. I am glad to fight for that justice and to make a difference to their lives.”

Expertise

  • Asbestos Claims
  • Dust Disease Board Appeals
  • Dust Diseases Claims
  • Compensation Claims

Career History

  • Slater and Gordon since 2008 (practice group leader)
  • 2000-2007 Watkins Tapsell (partner)
  • 1996-2000 Watkins Tapsell (lawyer)
  • 1992-1995 NSW Crown Solicitors Office (paralegal clerk)

He is Head of Department, Cardiothoracic Surgery at Royal Prince Alfred Hospital, Sydney and holds the Chair of Cardiothoracic Surgery and the Bosch Chair of Surgery, University of Sydney. He has performed over 2500 adult cardiac surgical procedures ranging from coronary artery bypass to complex aortic root and arch reconstructions. He is President of the Australia and New Zealand Society of Cardiac and Thoracic Surgeons and is the Society representative to the Cardiac Surgery National Database. He is the Co-Chair of the Institute of Academic Surgery at RPAH where he also oversees the robotic surgical program. He heads the National MBS Taskforce Review for Cardiac Surgery and has held various positions in the Royal Australasian College of Surgeons and Royal Prince Alfred Hospital.

Professor Bannon’s teaching responsibilities are currently to all years of the Graduate Medical Program at Sydney Medical School, University of Sydney. He supervises local and international Doctorate, Masters and Honours students as well as international elective students. He is the Co Editor-in-Chief of The Annals of Cardiothoracic Surgery and a Director of the CORE Group for International Collaborative Research. Professor Bannon has published widely in books, journals and conference proceedings on cardiothoracic surgery, basic science and evidence based medicine.

He has a particular passion for translational research in the areas of congenital aortic and mitral valve disease, hypertrophic cardiomyopathy, biomaterials and biocompatibility, limitation of blood product usage in cardiac surgery, the inflammatory response to bypass and the development of academic surgical careers. He is a current Chief Investigator on NHMRC and NHF grants for biomaterials and congenital heart disease research as well as a current NHMRC CRE grant on mechanical circulatory support. His role in the CRE is to produce NHMRC Clinical Practice Guidelines and measure their dissemination, adoption and outcomes. He personally oversees more than $500,000 worth of research funding annually. His Department currently runs 16 clinical trials amongst many other laboratory and clinically based projects.

Professor Clifford F. Hughes

AO MBBS FRACS FACC FACS FCSANZ

Professor Cliff Hughes is President of the International Society for Quality in Health Care. Until March 2015 he was the Chief Executive Officer of the Clinical Excellence Commission, a statutory health corporation established in 2004 to build capacity and design programs to promote and support improvement in quality and safety for health services across NSW. He has been chairman or member of numerous Australian state and federal committees associated with quality, safety and research in clinical practice for health care services. He has held various positions in the Royal Australasian College of Surgeons, including Senior Examiner in Cardiothoracic Surgery and member of the College Council. In November 2015 the College bestowed upon him the highest award given to a Fellow in his lifetime, the Sir Hugh Devine Medal. He has received awards for his national and international work including an Alumni Award from the University of NSW. He has led five medical teams to China and has performed cardiac surgery in Hong Kong, Singapore, Malaysia, India and Bangladesh. In 1998, he was made an Officer in the Order of Australia (AO) in recognition of his contributions and “service to cardiac surgery, international relationships and the community”. In June 2014, the University of NSW conferred upon him the degree of Doctor of Science, its peak academic award.

Professor Jeffrey Braithwaite

BA, MIR (Hons), MBA, DipLR, PhD, FIML, FCHSM, FFPHRCP (UK), FAcSS (UK), Hon FRACMA, FAHMS

Professor Jeffrey Braithwaite, BA, MIR (Hons), MBA, DipLR, PhD, FIML, FCHSM, FFPHRCP (UK), FAcSS (UK), Hon FRACMA, FAHMS is Founding Director, Australian Institute of Health Innovation, Director, Centre for Healthcare Resilience and Implementation Science, and Professor of Health Systems Research, Faculty of Medicine and Health Sciences, Macquarie University. His research examines the changing nature of health systems, attracting funding of more than AUD$131 million (EUR€81.8 million, GBP£70.8 million).

He has contributed over 470 peer-reviewed publications presented at international and national conferences on more than 915 occasions, including 97 keynote addresses. His research appears in journals such as JAMA, British Medical Journal, The Lancet, BMC Medicine, BMJ Quality & Safety, and International Journal for Quality in Health Care. He has received numerous national and international awards for his teaching and research.

He is interested in the Anthropocene and the impact of human activity on human and species’ health, population and climate. He blogs at http://www.jeffreybraithwaite.com/new-blog/.

Further details are available at his Wikipedia entry: http://en.wikipedia.org/wiki/Jeffrey_Braithwaite.

Ms. Michelle Sloane

BA MA MBA CMAHRI MAPsS​

Michelle’s background is in psychology and human resources working for many years in senior executive positions at Westpac, IBM and Unilever. Twenty years ago she established a human resources management consulting practice, Diversity Management, and led that organisation for 16 years. Michelle has worked extensively in the areas of change management, organisational analysis and design, human resource management, program management, stakeholder engagement as well as leadership development and training.

Michelle has a Master of Business Administration from the University of Technology, a Master of Arts (Psychology) from the University of Sydney and a Bachelor of Arts from the University of New South Wales. In addition Michelle is a Graduate of the Institute of Company Directors (GAICD).

Michelle has also been a Councillor for the City of Willoughby in Sydney. During her time as Councillor and Deputy Mayor, she has worked tirelessly with the local community advocating across a range of local and state-wide issues. Her interest in local government was developed over many years as a very active volunteer in her local community.

Professor Paul G. Bannon

MBBS PhD FRACS

Professor Paul Bannon is the Chair of The Baird Institute for Applied Heart and Lung Surgical Research, a not-for-profit medical research institute established in 2001, to improve the outcomes and better the lives of those undergoing heart and lung surgery.

He is Head of Department, Cardiothoracic Surgery at Royal Prince Alfred Hospital, Sydney and holds the Chair of Cardiothoracic Surgery and the Bosch Chair of Surgery, University of Sydney. He has performed over 2500 adult cardiac surgical procedures ranging from coronary artery bypass to complex aortic root and arch reconstructions. He is President of the Australia and New Zealand Society of Cardiac and Thoracic Surgeons and is the Society representative to the Cardiac Surgery National Database. He is the Co-Chair of the Institute of Academic Surgery at RPAH where he also oversees the robotic surgical program. He heads the National MBS Taskforce Review for Cardiac Surgery and has held various positions in the Royal Australasian College of Surgeons and Royal Prince Alfred Hospital.

Professor Bannon’s teaching responsibilities are currently to all years of the Graduate Medical Program at Sydney Medical School, University of Sydney. He supervises local and international Doctorate, Masters and Honours students as well as international elective students. He is the Co Editor-in-Chief of The Annals of Cardiothoracic Surgery and a Director of the CORE Group for International Collaborative Research. Professor Bannon has published widely in books, journals and conference proceedings on cardiothoracic surgery, basic science and evidence based medicine.

He has a particular passion for translational research in the areas of congenital aortic and mitral valve disease, hypertrophic cardiomyopathy, biomaterials and biocompatibility, limitation of blood product usage in cardiac surgery, the inflammatory response to bypass and the development of academic surgical careers. He is a current Chief Investigator on NHMRC and NHF grants for biomaterials and congenital heart disease research as well as a current NHMRC CRE grant on mechanical circulatory support. His role in the CRE is to produce NHMRC Clinical Practice Guidelines and measure their dissemination, adoption and outcomes. He personally oversees more than $500,000 worth of research funding annually. His Department currently runs 16 clinical trials amongst many other laboratory and clinically based projects.