What is Lesch Nyhan? Lesch Nyhan syndrome is an ‘inborn error of metabolism’, a genetically determined fault in body biochemistry. Reduced activity of the enzyme HGPRT results in pathological levels of uric acid in the blood, causing a variety of symptoms including neurological impairment.
Mutations in the RET protooncogene are involved in the development of hirschsprung’s disease and some types of thyroid cancer. The RET oncogene test has great clinical significance because the type of mutation detected has a huge impact on determining the best treatment for affected individuals.
The elastase 2 (ELA2) gene codes for the enzyme neutrophil elastase which is secreted by white blood cells called neutrophils. The enzyme is essential for effective anti bacterial immune responses. Therefore, elastase 2 gene mutation can result in severely impaired immunity.
MCF-7 is a ‘cell line’ that it is able to grow in culture indefinitely. Such ‘immortalized’ cells are a useful resource to scientists, since they allow the study of cell biology outside of the body. This article summarizes the characteristics of the cell line, including the c-myc oncogene of MCF-7.
Some chemotherapy drugs are mutagenic i.e cause DNA damage. If mutagenic changes occur in sperm, there is a theoretical risk of increased birth defects from paternal exposure to chemotherapy. This article summarizes current medical and scientific opinion on chemotherapy and male fertility issues.
How is a chlamydia screning lab test done? There are numerous methods of detecting C. trachomatis (‘chlamydia’) including cell culture, enzyme-immuno assay, direct fluorescent-antibody assay and the more recently developed nucleic acid amplification tests.
Duchenne’s and Becker’s muscular dystropy are inherited diseases characterized by progressive muscle wasting. They are caused by mutations in the dystrophin gene. Recent advances in research on dystrophin gene mutation could lead to the development of new effective therapies.
Many diseases result in a buildup of fluid within the abdominal cavity. Peritoneal fluid analysis involving biochemistry, microbiology and cytology lab testing can play an important role in diagnosis of the underlying disease.
Research into nicotine addiction includes the use of molecular biology analysis and animal models. Genetically engineered mice that lack certain genes involved in nicotine physiology have greatly aided this area of research.
Circadian rhythm is involved in almost all mammalian functions. This is controlled by circadian clock genes which influence numerous biological processes. The importance of clock genes is becoming clearer and disruption of circadian rhythm has been linked to disorders such as diabetes and cancer.
Genital HPV is a common sexually transmitted disease that is responsible for over 50 000 new cases of cancer per year. The genetics of papilloma virus and its tumorigenic effects are now well understood. This information could generate new ways to prevent and treat HPV related malignancy.
Epstein-Barr virus (EBV) is a ubiquitous virus which causes both benign and malignant disease and is commonly detected by serology. The Epstein-Barr virus antibody test is a well-established laboratory technique which can distinguish between primary and remote infection.
Hutchinson Gilford progeria syndrome (HGPS) is a rare disease of accelerated aging. HGPS patients fascinate clinicians and the public alike, due to their dramatic appearance and tragically shortened lives. However, research has progressed rapidly and a cure for progeria is now considered possible.
Kniest dysplasia (KND), kniest syndrome or ‘Swiss cheese syndrome’ is a rare, heritable impairment of collagen formation. The most visible manifestation is restricted growth (metatropic dwarfism type II). This article gives a summary of kniest dysplasia treatment, symptoms and causes.
Rett syndrome is a neurological, developmental disease affecting girls. It is characterized by severe mental, motor and physiological defects. Sadly no cure exists presently for this devastating condition. However, major research developments give hope of improved future therapies for Rett syndrome.
Rubinstein Taybi syndrome (RTS) is a well described, yet rare genetic syndrome. This article summarizes the genetics of Rubinstein taybi syndrome, common symptoms and prospects for future treatments.
It is well-known that chemotherapy causes side effects such as hair loss and nausea in the short term. However, long term side effects of chemotherapy can be seen months or even years after treatment has finished. Some side effects resolve naturally, but others can require medical intervention.
There is a long list of tests an immunologist does to aid the clinician in making a diagnosis. Most tests are performed on blood but other samples such as cerebrospinal fluid (CSF) or urine are also tested. This article summarizes the main tests performed by hospital immunology laboratories.
Head and neck squamous cell carcinoma (HNSCC) is a malignancy of the mucus linings covering the upper aerodigestive tract (mouth, tongue, nose, throat, vocal cords and part of the esophagus). New treatments are urgently needed and gene therapy for head and neck cancer is being actively explored.
Fibromyalgia is a frustrating condition for both patient and doctor due its non-specific nature and the lack of effective treatments. Environmental triggers are key in the pathogenesis of this disorder, but new research on the genetics of fibromyalgia show that inherited factors are also involved.