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Topical Update

Thyroid Dyshormonogenesis

Volume 9, Issue 1, January 2014

Dr YUEN Yuet Ping

Department of Chemical Pathology Prince of Wales Hospital

Introduction

Congenital hypothyroidism (CH) is an important preventable cause of mental retardation. To prevent irreversible brain damages caused by hypothyroidism, sufficient doses of thyroxine should be started within a few weeks after birth.(1) Since neonates with CH have no obvious or minimal clinical manifestations, biochemical screening in the newborn period has become the best public health strategy for early detection of affected neonates. In Hong Kong, a territory-wide screening programme for CH was started in 1984.(2) Cord blood samples are collected immediately after birth for measurement of thyroid stimulating hormone (TSH) by a single laboratory dedicated for newborn screening. The incidence of CH in...

Epidemiology of Cervical Human Papillomavirus Infection in Hong Kong: Implications on Preventative Strategy

Volume 8, Issue 2, July 2013

Prof. Paul KS Chan

Professor, Department of Microbiology, Prince of Wales Hospital The Chinese University of Hong Kong

Introduction

The family Papillomaviridae is comprised of a large group of viruses found in many mammalian species. Infection with papillomaviruses can be asymptomatic or results in the development of benign or malignant neoplasia. Cervical cancer is the most important consequence, in terms of disease burden, of human papillomavirus (HPV) infection. To date, the genomic sequences of more than 150 HPV types have been characterized. Of these, more than 40 types can infect the female genital tract, and at least 15 types are epidemiologically linked to cervical cancer. Over the last few years, there has been a vast increase in using HPV DNA detection as an adjunctive or primary...

Laboratory Testing For Anti-NMDAR In Autoimmune Encephalitis: The HSSA- Pathology Queensland Experience

Volume 8, Issue 1, January 2013

Bob Wilson MSc, FFS(RCPA), Kerri Prain, BSc, David Gillis, FRCPA FRACP FFS(RCPA) and Richard Wong GDM FRCPA FRACP FRCP.

Division of Immunology, Central Laboratory, HSSA-Pathology Queensland, Royal Brisbane and Women’s Hospitals, Herston, Brisbane, 4061, Australia.

Introduction

The spectrum of antibodies against intracellular, cell surface and synaptic neuronal antigens has expanded rapidly in recent years. The antigenic targets include ion channels, receptors involved in neurotransmission across synapses and proteins associated with them. There are now more than twenty anti-neuronal antibodies detected in association with neurological diseases. These antibodies may be associated with underlying malignancies and are commonly referred to as paraneoplastic antibodies (PNAs). Many PNAs have...

Virtual Electron Microscopy – update after one year of routine use

Volume 7, Issue 2, July 2012

Dr. King Chung Lee

Consultant Pathologist, St. Paul’s Hospital

Honorary Consultant, Queen Elizabeth Hospital

Background

Virtual microscopy using whole slide scanning has become increasingly popular in quality assurance program, teaching of pathologists and undergraduates and reproducibility studies 1-2. This concept was first extended to electron microscope (EM) about a year ago 3. This is made possible by two discoveries. Firstly, a free software component capable of stitching sequential pictures into a virtual slide that can be read by another free software. Secondly, an EM function capable of capturing up to 500 images covering a specified area automatically. Because of the simplicity acceptable degree of user intervention during the process and unsurpassed advantages over the...

Chronic lymphocytic leukaemia – the role of conventional and molecular cytogenetics

Volume 7, Issue 1, January 2012

Dr W. S. Wong

Associate Consultant, Department of Pathology, Queen Elizabeth Hospital

Dr. K.F. Wong Chief of Service, Department of Pathology, Queen Elizabeth Hospital

Introduction

Chronic lymphocytic leukaemia (CLL) is the commonest chronic lymphoproliferative disorder of mature B-cells and affects mainly elderly. It is characterized by the presence of≥5x109/L monoclonal and often CD5+CD23+B-lymphocytes in peripheral blood. Haematogists usually have no problem in reaching the diagnosisas the majority of the cases have classical morphological and immunophenotypic features; however, it is an extremely heterogeneous disease clinically with highly variable clinical course.

Some patients are asymptomatic and do not require treatment while others progress early and require...

Laboratory Role in Toxicology: From Diagnostic to Theranostic

Volume 6, Issue 1, July 2011

Dr W. T. Poon

Associate Consultant, Department of Pathology, Princess Margaret Hospital

Introduction

Toxicology analysis involves detection, identification and measurement of foreign compounds and their metabolites in biological and other specimens. It plays a useful role in them a nagement of poisoned patients when the diagnosis is in doubt, the administration of antidotes or protective agents is contemplated, or the use of active elimination therapy is being considered. As the scope and complexity of clinical toxicology continues to increase, continuing effort is required for the laboratory to expand its diagnostic capability and coverage. Apart from patient care, identification of a lethal or emerging toxin also serves to provide useful information for toxico-vigilance of potential...

Discovery of novel microbes: more and more coronaviruses after the SARS epidemic

Volume 5, Issue 2, December 2010

WOO, Patrick CY

Professor, Department of Microbiology, The University of Hong Kong

Coronavirus study group, International Committee for Taxonomy of Viruses

Introduction

The Coronaviridae family is classified into two subfamilies, Coronavirinae and Torovirinae. Members of the Coronavirinae subfamily are in general referred to as coronaviruses. Phenotypically, coronaviruses are enveloped viruses of 120-160 nm in diameter. Under electronmicroscopy, coronaviruses have a crown-like appearance and the name “coronavirus” is derived from the Greek word κορώνα, which means crown. Genotypically, coronaviruses are positive-sense, single-stranded RNA viruses with genome sizes of about 30 kb, the largest genome size among all RNA viruses. Traditionally, coronaviruses were classified into...

Molecular Autopsy of Unexplained Sudden Death

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

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

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...