American Association for Clinical Chemistry
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Newborn Screening for Severe Combined Immunodeficiency (SCID): Should it be performed?

5/14/2013 12:41 PM | Comments (0) Recommend (25)

By Patricia M. Jones, PhD, DABCC, FACB
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​Newborn screening (NBS) in the US began in the State of Maine in the early 1960’s when Dr. Robert Guthrie developed a bacterial inhibition test to detect elevated levels of phenylalanine in dried blood spots, and showed that the test could be used to screen for the presence of phenylketonuria (PKU...(Read More)
Posted at 5/14/2013 12:41 PM | Tags: Molecular Pathology and Genetics
Are reference change values more useful than population-based reference intervals?

4/30/2013 2:15 PM | Comments (0) Recommend (54)

By Callum G Fraser, PhD & William (Bill) A Bartlett, PhD, FRCPath
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​We professionals in laboratory medicine agonize over provision of appropriate population-based reference intervals (RI). Good quality RI, in addition to flags on results triggered by their limits, are required by laboratory accreditation bodies and standards such as ISO 15189.  And we do know that...(Read More)
Posted at 4/30/2013 2:15 PM | Tags: Special Populations
Autoimmune diabetes and related conditions

4/16/2013 2:17 PM | Comments (0) Recommend (127)

By William E. Winter, MD; Roger L. Bertholf, Ph.D.
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​Challenge: I was recently asked what medical concerns exist for people with autoimmune diabetes [either type 1 diabetes or latent autoimmune diseases of adulthood (LADA)] that are not shared by people with type 2 diabetes. Certainly for all people with diabetes of any kind, attempting to achieve...(Read More)
Posted at 4/16/2013 2:17 PM | Tags: Case Study | Diabetes/Endocrinology
Where Is the Hemoglobin S?

4/2/2013 2:52 PM | Comments (0) Recommend (149)

By William E. Winter, MD; Lindsay Bazydlo, PhD, and Neil S. Harris, MD
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​Case: The patient was an African American woman between the ages of 30 and 40 years. She previously had a gastric bypass and lost weight from 400 lbs to less than 200 lbs. Since that time the patient suffered from multiple episodes of ill defined abdominal pain, vomiting and diarrhea attributed, i...(Read More)
Posted at 4/2/2013 2:52 PM | Tags: Case Study | TDM/Toxicology
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