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Clinical Chemistry

Image: Clinical manifestation of Homozygous Familial Hypercholesterolemia, interdigital xanthoma (Photo courtesy of the National Organization for Rare Disorders).

New Gene Associated With Familial High Cholesterol

The gene that explains one quarter of all familial hypercholesterolemia with very high blood cholesterol has been revealed. Familial hypercholesterolemia is the most common genetic disorder leading to premature death, found in 1 in 200 people. More...
26 May 2016
Image: A bone marrow aspirate biopsy of a patient with Gaucher Disease; the cytoplasm has wrinkled tissue paper appearance (Photo courtesy of the American Society of Hematology).

Elevated Chitotriosidase Differentially Diagnoses Lysosomal Storage Disorders

Plasma chitotriosidase originates from activated macrophages and is reported to be elevated in many Lysosomal Storage Disorders. Measurement of this enzyme’s activity has been an available tool for monitoring therapy of Gaucher disease. More...
25 May 2016
Image: The lab-on-a-chip device integrates a fiber optic biosensor with a microfluidic chip and detects glucose levels from droplets of sweat. It is shown here next to a Hong Kong dollar, which is the same size as the USD coin (Photo courtesy of Dr. A. Ping Zhang).

Microfluidic Chip Developed For Ultrasensitive Glucose Detection

Highly sensitive and rapid detection of blood glucose is a diagnostic necessity in medicine as, for instance, lack of insulin and too much blood sugar are two main causes of diabetes, both of which can be detected by measuring blood glucose. More...
18 May 2016
Image: The Varian Scimitar Attenuated Total Reflectance Fourier Transform Infrared (ATR-FTIR) spectroscopy instrument (Photo courtesy of S. Levchenkov).

Infrared Technology Used To Screen For Minimally Invasive Colitis

Inflammatory bowel diseases, which include ulcerative colitis and Crohn's disease, involve chronic inflammation of all or part of the digestive tract and can lead to life-threatening complications such as colorectal cancer. More...
18 May 2016
Image: Dried blood spots are used to screen newborns for a number of rare inherited conditions. A new dried blood spot screening test has been developed for Niemann-Pick type C, a rare neurodegenerative condition that usually is not diagnosed until after damage to brain cells has begun (Photo courtesy of Washington University School of Medicine).

Newborn Screening Test Developed For Deadly Neurological Disorder

A newborn screening test has been introduced that identifies infants with Niemann-Pick disease type C, an often fatal condition in which cholesterol builds up and eventually destroys brain cells. More...
18 May 2016

Breath Test May Help Diagnose Irritable Bowel Syndrome

There is currently no specific diagnostic & monitoring test for irritable bowel syndrome (IBS) and no potentially reliable biomarkers have been identified until now. Using a novel metabolomic approach, researchers have identified a combination of substances in the breath that, when measured together, accurately distinguished IBS patients from people without the condition. More...
17 May 2016
Image: The MRX microplate reader (Photo courtesy of Dynatech Medical Products).

Blood Test Detects Breast Cancer Spread Earlier

More sensitive, non-invasive tests are required for secondary breast cancer, which occurs when new tumors grow in the bone, liver, lung or brain, to make diagnosis easier and for treatment to begin as early as possible. More...
12 May 2016
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The Clinical Chemistry channel updates the reader on tests, techniques, and research in the field - from routine assays to specialized tests on blood, urine, enzymes, lipids, hormones and more.
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