News

Molecular Autopsy of Unexplained Sudden Death

Post Date : 01/06/2010

Volume 5, Issue 1, June 2010

POON, WM

Senior Medical & Health Officer, Forensic Pathology Service, Department of Health

Introduction

Investigation of sudden death is the commonest challenge encountered by Forensic Pathologists. Most cases of sudden death are due to cardiovascular abnormalities evident at macroscopic and/or microscopic examination, such as coronary heart disease, myocarditis, cardiomyopathies, aortic dissection, etc. Unfortunately, a significant number of sudden death, estimated to be 1-5% (1), remains unexplained despite a thorough autopsy including toxicology, histology and other laboratory tests. This article attempts to look into some recent advances in the understanding of these “negative autopsies”. Issues related to “negative autopsies in infancy, which in itself merits another separate...

Hereditary Breast and Ovarian Cancer – the BRCA1 and BRCA2 genes

Post Date : 31/12/2009

Volume 4, Issue 3, December 2009

KHOO, Ui Soon

Clinical Associate Professor, Department of Pathology, The University of Hong Kong, Queen Mary Hospital

Background

Breast cancer is the leading female cancer in Hong Kong. Now at 52.1 per 100,000 (Hong Kong Cancer Registry, 2008) its incidence has been steadily rising over the last few decades, and is the highest reported in Asian regions. There are two major breast and ovarian susceptibility genes, BRCA1 and BRCA2. About 30-70% of patients with hereditary breast/ovarian cancer and about 5-10% of all breast and/or ovarian cancer cases harbor a germline mutation in these genes 1. The defective gene is inherited in autosomal dominance pattern. Individuals carrying a mutation in the BRCA1 or BRCA2 genes have a 85% lifetime risk of breast cancer, and a lifetime risk for...

Genetic Diagnosis of Globin Gene Disorders

Post Date : 01/08/2009

Volume 4, Issue 2, August 2009

Dr Jason C. C. So

Associate Professor, Division of Haematology, Department of Pathology, The University of Hong Kong, Queen Mary Hospital

Introduction

Globin gene disorders as a whole are the commonest group of monogenic disease in the world. In Southern China and Southeast Asia, alpha and beta thalassaemias, as well as specific types of haemoglobin (Hb) variants such as Hb E, are prevalent. Most people who have inherited these mutated globin genes are asymptomatic carriers. The number of severely affected patients is relatively small in developed regions where comprehensive antenatal screening and prenatal diagnosis programmes are in place. This is not the situation in less developed countries where the clinical, economical and social load of globin gene disorders is still heavily felt...

Global Standardization of HbA1c

Post Date : 01/04/2009

Volume 4, Issue 1, April 2009

TAI, Morris

Associate Consultant, Department of Pathology and Clinical Biochemistry, Queen Mary Hospital

Introduction

The prevalence of diabetes mellitus (DM) has been increasing in recent years and DM is now a global epidemic. Haemoglobin A1c (HbA1c) plays an important role in the management of DM as the vast majority of outcome  studies on diabetic complications are based on it. The most famous of such studies, which demonstrated the relationship of HbA1c to diabetic complications, are the Diabetes Control and Complications Trial (DCCT) & the United Kingdom Prospective Diabetes Study (UKPDS). HbA1c is formed via a posttranslational nonenzymatic attachment of glucose to haemoglobin in an irreversible fashion. In strict chemical terms, the molecular structure of HbA1c is β-N-(1-deoxy)-...

Antimicrobial Resistance – The Challenge Ahead

Post Date : 14/12/2008

Volume 3, Issue 3, December 2008

IP, Margaret

Professor, Department of Microbiology, The Chinese University of Hong Kong

Introduction - Global Concerns and Challenges

Throughout the world, healthcare professionals are concerned at the growing problem of antimicrobial resistance and the global emergence of multi-drug-resistant organisms (MDROs) in the health care setting and in the community. The use of penicillin in early 1940s on a wider scale, and the subsequent newly-introduced antimicrobials, was soon followed by the emergence of resistantmicrobes. Some of the seresistant organisms in relation to the introduction of antimicrobial agents are listed in Table 1. The prevalence of MDROs has increased dramatically worldwide during the last decades [1]. Most alarmingly are in infections caused by MDROs whereby resistance...

Immunogenetics: MHC and non-MHC

Post Date : 01/08/2008

Volume 3, Issue 2, August 2008

KWOK, SY Janette

Associate Consultant, Division of Transplantation and Immunogenetics, Department of Pathology and Clinical Biochemistry, Queen Mary Hospital, Hong Kong

Introduction

Immunogenetics is the study of the immune response in relation to genetic makeup. The immune system protects the vertebrates from all potential harmful infectious agents such as bacteria, virus, fungi and parasites. The growing understanding of the immune system has influenced diversified biomedical disciplines, and is playing a significant role in the study and treatment of many diseases such as cancer and autoimmune conditions.

The launch of immunogenetics could be traced back to the demonstration of Mendelian inheritance of the human ABO blood grouping in 1910. Major developments leading to the...

The Autopsy Interview

Post Date : 01/04/2008

Volume 3, Issue 1, April 2008

BEH, SL Philip 

Associate Professor (Forensic Pathology), Department of Pathology, Li Ka Shing Faculty of Medicine The University of Hong Kong

The autopsyinterview is an anomaly which arose in Hong Kong at a time when the Coroner did not speak the local language and the police officer investigating the death had very little medical knowledge. The hospital anatomical pathologists and forensic pathologists were therefore delegated the task of obtaining medical information from the Cantonese speaking next-of-kin which may be related to the death and providing a written English summary for the Coroner. The legal authority on the decision to autopsy or to waive an autopsy had always rested with the Coroner. However, the practical decisions were effectively made by the pathologists based on the available me dical...

Impact of Molecular Methods in the Diagnosis of Lymphomas

Post Date : 01/07/2007

Volume 2, Issue 2, July 2007

Dr. CHEUK Wah

BSc(Hons), MBBS, FHKCPath, FRCPA, Associate Consultant, Department of Pathology, Queen Elizabeth Hospital 

Overview of conventional molecular techniques in lymphomas

The use of molecular techniques in hematolymphoid pathology started with cloning of the immunoglobulin and T cell receptor genes. [1] This is followed by the cloning of a number of translocation breakpoints in some common lymphoma types.[2-4] Assay of chromosomal breakpoints not only helps in confirming a clonal proliferation but also prov ides an indication of the type of lymphoma. The main application is to establish clonality or lineage of a lymphoid proliferation. 

Southern blot analysis was the standard technique in molecular studies. The advent of the polymerase chain reaction (PCR) provides an...

Recent perspectives in glucose-6-phosphate dehydrogenase (G6PD) deficiency

Post Date : 30/03/2007

Volume 2, Issue 1, March 2007

Dr Edmond S K Ma

MD (HK), FRCPath, FHKAM (Pathology)

Department of Pathology, Hong Kong Sanatorium & Hospital

Background

G6PD catalyzes the conversion of glucose-6-phosphate (G6P) to 6-phosphogluconate concurrent with reduction of NADP to NADPH, which in turn acts through glutathione and catalase pathways to detoxify hydrogen peroxide, thus counteracting oxidative stress to the cell. In the body, red cells are most susceptible to oxidative damage because oxygen radicals are generated continuously as haemoglobin cycles from deoxygenated to oxygenated forms, as well as being readily exposed to exogenous oxidizing agents present in the blood. Hence G6PD deficiency is a prototype cause of haemolytic anaemia due to intrinsic red cell enzyme abnormality.

Deficiency of G6PD...

Diagnosing Wilson disease in the post-genomic era

Post Date : 10/11/2006

Volume 1, Issue 3, November 2006

Dr Ching-Wan LAM, MBChB(CUHK), PhD(CUHK), FRCPA, FHKAM(Pathology)

Associate Professor, Department of Chemical Pathology, The Chinese University of Hong Kong, Prince of Wales Hospital

Dr Chloe MAK, MBBS(HK), FRCPA

Resident Specialist, Division of Clinical Biochemistry, Department of Pathology, Queen Mary Hospital

Wilson disease (WD) (MIM # 277900) is an autosomal recessive disorder of copper transport. Clinical manifestations of WD vary widely. The age of onset ranges from three to more than 50 years of age. The initial onset of symptoms can be hepatic, neurological, psychiatric or as an acute haemolytic crisis. The prevalence of WD has been estimated to be approximately 1 in 30,000 in the Caucasian population. Although the prevalence of WD in the Hong Kong Chinese has not been investigated,...