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Molecular Diagnostics

Image: Illustration of Normal Heart versus Heart with Dilated Cardiomyopathy (Photo courtesy of Medical gallery of Blausen Medical).

Rare Genetic Variants Can Contribute to Ischemic Heart Failure

Heart failure affects about 40 million people globally, and most cases are due to ischemic heart disease, hypertension, or cardiomyopathies. Cardiomyopathies have been traced to rare variants in genes that encode sarcomere or cytoskeletal proteins, channels, or desmosomes, while genome-wide association studies have underscored common variants linked to heart failure. More...
29 Dec 2020
Image: Schematic diagram of Osteopontin Links Myeloid Activation and Disease Progression in Systemic Sclerosis (FVC=forced vital capacity) (Photo courtesy of University of Michigan).

Osteopontin Linked to Progressive Lung Scarring in Scleroderma Patients

Systemic sclerosis (SSc) is an autoimmune disease characterized by a distinct pathogenic triad of microvascular damage, dysregulation of innate and adaptive immunity, and fibrosis involving skin and many internal organs, such as the heart, kidney, and lungs. More...
28 Dec 2020
Image: Acute Lymphoblastic Leukemia: lymphoblasts appear small with a thin rim of cytoplasm (Photo courtesy of Peter Maslak MD).

Next-Generation Sequencing Detects Residual Disease in Acute Lymphoblastic Leukemia

The use of next-generation sequencing (NGS) to detect residual disease in acute lymphoblastic leukemia (ALL) patients after treatment can better gauge their risk of relapse and overall survival than multiparameter flow cytometry. More...
24 Dec 2020
Image: Histopathology of dissected appendiceal tissue showing moderately differentiated neoplastic glands lined by cells with nuclear pleomorphism and hyperchromasia (Photo courtesy of Pacific Northwest University of Health Sciences).

Distinct Mutation Patterns Identified in Appendiceal Cancer

The incidence of appendiceal cancer (AC) is rising, particularly among individuals younger than 50 years (early-onset AC), with unexplained etiologies. The unique spectrum of somatic cancer gene variations among patients with early-onset AC is largely undetermined. More...
24 Dec 2020
Image: Micrograph showing a prostate cancer (conventional adenocarcinoma) with perineural invasion (Photo courtesy of Wikimedia Commons)

Novel Classification System Identifies Prostate Cancer Patients Who May Benefit from Combined Immune and Radiation Therapies

A novel classification system is expected to aid in the subtyping of aggressive prostate cancers in patients who may benefit from combined immune and radiation therapies. More...
22 Dec 2020
Image: Tau proteins are a group of six highly soluble protein isoforms, which have help maintain the stability of microtubules in the axons and neurons of the central nervous system (Photo courtesy of NeuroscienceNews.com)

Plasma Levels of N-terminal Tau Fragments Predict Likelihood of Cognitive Decline in Elderly Individuals

A team of neurodegenerative disease researchers found that higher levels of N-terminal fragment of tau (NT1) in blood samples taken at the beginning of a survey of clinically normal elderly individuals were strongly associated with future risk of cognitive decline and progression to Alzheimer's disease. More...
21 Dec 2020
Image: nCounter NanoString: Gene expression profiling platform (Photo courtesy of Institute Pasteur).

Gene Expression Signature Traces Nonalcoholic Fatty Liver Disease Progression

Nonalcoholic fatty liver disease (NAFLD) is a common condition marked by the accumulation of triglycerides and other lipids in the liver and is associated with metabolic syndrome, type 2 diabetes, hypertension, and dyslipidemia. More...
16 Dec 2020
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Genetic Testing channel of LabMedica brings the latest in molecular genetics, cytogenetics, and epigenetics, and methods from PCR to FISH, and more.