Charlie Gard, who recently died just before his first birthday, was admitted to Great Ormond Street Hospital (GOSH) when he was two months old. Founded 265 years ago, and classed as one of the top four pediatric hospitals globally, GOSH has a dedicated international workforce, including some of the world’s leading doctors, surgeons and pediatric […]
Intraductal tubulopapillary neoplasm is a recently recognized distinct and rare entity of the pancreas, which may be unfamiliar to many physicians and laboratory personnel. However, recognizing this disease is critical for its proper clinical management and further study. Here, we discuss the clinical and pathological features of this neoplasm. by Dr Shula Schechter and Dr […]
Galactosemia is an inborn error of metabolism caused by the deficiency of any of the three principal enzymes (GALT, GALK and GALE) involved in the Leloir pathway. The application of urinary galactitol as a diagnostic and monitoring marker for galactosemia has been extensively researched but the practice varies in different centres. The Willink Biochemical Genetic […]
In recent decades liquid chromatography–tandem mass spectrometry (LC-MS/MS) has become more widespread in the clinical laboratory, bridging the analytical gap between high-throughput (but interference prone) immunoassays and the highly specific (but labour intensive) technique of gas chromatography–mass spectrometry (GC-MS). This article discusses serum steroid measurement by LC-MS/MS and describes a multiplexed LC-MS/MS steroid panel recently […]
Mass spectrometry (MS) is a well-known and broadly used analytical technique, and one that is particularly effective when coupled with liquid chromatography (LC). LC-MS/MS operates by analyte separation, ionization, mass analysis and detection, and lends itself as an ideal technique to meet the needs of a range of laboratory types. Over the past decade, LC-MS/MS […]
In the human body, steroid hormones are involved in a variety of regulatory processes, which makes them also important diagnostic markers for a range of diseases. However, due to their high chemical similarity, they can represent a challenge for many assays – immunoassays in particular suffer from cross-reactivities. In comparison, LC-MS/MS-based assays provide high specificity […]
October 2nd marked the 100th anniversary of the birth of Christian de Duve, Nobel Prize-winning Belgian cytologist and biochemist who discovered two cell organelles, lysosome (in 1955) and peroxisome (in 1966), for which he shared the 1974 Nobel Prize in Physiology or Medicine with fellow Belgian Albert Claude and Romanian-born American George Palade. The award […]
Mild traumatic brain injury (mTBI) and concussion from sporting/recreational activities are relatively common. However, assessment of mTBI is difficult and many incidents of mTBI and concussion are unrecognized and/or not reported. Levels of the α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor (AMPAR) peptide, a product of the proteolytic degradation of AMPA receptors, have been found to be raised in […]
Stroke biomarkers provide much insight into stroke biology that could be translated for patient benefit. When carefully harnessed, these biomarkers could guide decision-making in challenging clinical scenarios. This article offers an overview on current notable brain biomarkers that could aid clinicians in acute stroke management. by Geelyn J.L. Ng and Dr Raymond C.S. Seet IntroductionStroke […]
Clostridium difficile is a leading cause of nosocomial diarrhoea and one of the most common healthcare-associated infections. A dramatic worldwide increase in the incidence of C. difficile infection has occurred over the past two decades with the emergence of hypervirulent strains. Accurate and timely laboratory diagnosis of C. difficile infection is fundamental to ensure patients […]
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