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Molecular Diagnostics

Image: Peripheral blood smear showing chronic lymphocytic leukemia (CLL). A large lymphocyte (arrow) has a notched nucleus and demonstrates the variable appearance of some of the lymphocytes in CLL (Photo courtesy of Peter Maslak)

TP53 Gene Promoter Methylation Impacts Chronic Lymphocytic Leukemia

 Chronic lymphocytic leukemia (CLL) is a clonal disorder that results in the accumulation of morphologically mature-looking and immunologically incompetent lymphoid cells in the bone marrow, peripheral blood, and lymphatic tissues. More...
11 Dec 2019
Image: HbA1c Advanced Clinical Chemistry Diabetes Assay: to diagnose maturity-onset diabetes of the young (MODY), screening for at least three autoantibodies and HbA1c testing should takes place in all youth at the time of diabetes diagnosis (Photo courtesy of Beckman Coulter)

Three Factors Distinguish MODY, a Rare Diabetes, in Youth

 Identifying maturity-onset diabetes of the young (MODY) in pediatric populations close to diabetes diagnosis is difficult. Misdiagnosis and unnecessary insulin treatment are common. MODY is a monogenic, dominantly inherited form of diabetes that typically arises in adolescence or young adulthood, and accounts for 1%-4% of cases of pediatric diabetes. More...
10 Dec 2019
Image: Single-cell RNA-seq reveals cellular heterogeneity that is masked by bulk RNA-seq methods (Photo courtesy of 10x Genomics)

Alzheimer's Disease Gene Expression Varies by Brain Cell Type

 Genetic variants in apolipoprotein E (APOE) and other genes have been implicated in late-onset Alzheimer's disease through genome-wide association studies and other analyses. More...
09 Dec 2019
Image: Method for measuring large numbers of protein components in a single blood test (Photo courtesy of SomaLogic)

Diagnosing Disease Conditions by Analyzing Plasma Protein Expression Patterns

 A proof-of-concept study demonstrated that protein expression patterns in plasma samples were indicative of many different health issues, and that combining large-scale protein scanning with machine learning was a viable approach for the development of new diagnostic and prognostic tools. More...
09 Dec 2019
Image: Micrograph showing a prostate cancer (conventional adenocarcinoma) with perineural invasion (Photo courtesy of Wikimedia Commons)

Home Urine Collection for More Accurate Prostate Cancer Detection

 A standardized sampling system enables men being tested for prostate cancer to collect a urine sample at home and mail it to a laboratory for analysis. More...
09 Dec 2019
Image: Colored positron emission tomography (PET) scans of axial sections through a healthy brain (upper) and a schizophrenic brain (lower). Genetic architectures of schizophrenia in East Asian and European populations have been compared (Photo courtesy of WebMD)

Genetic Architectures of Schizophrenia Compared in Different Populations

 While the common genetic variants contributing to schizophrenia in East Asian individuals appear to broadly resemble those found in Europeans, polygenic risk scores (PRS) for the condition cannot necessarily be transferred from one population to the next. More...
05 Dec 2019
Image: Photomicrograph of histology of fibrolamellar hepatocellular carcinoma, showing large polygonal tumors cells with granular eosinophilic cytoplasm (Photo courtesy of Nephron)

Marker Panel Detects Early Liver Cancer with Increased Sensitivity

 Several types of cancer can form in the liver. The most common type of liver cancer is hepatocellular carcinoma, which begins in the main type of liver cell (hepatocyte). Other types of liver cancer, such as intrahepatic cholangiocarcinoma and hepatoblastoma, are much less common. More...
05 Dec 2019
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