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Molecular Diagnostics

Typical RNA sequencing workflow (Photo courtesy of Wikimedia Commons)

Advanced Sequencing Techniques Determine Cancer Genome Variants in Young Patients

A recent paper described a three-platform sequencing approach, including whole genome (WGS), exome, and RNA sequencing, that was used to examine tumor and germline genomes from prospectively identified children with newly diagnosed or relapsed/refractory cancers. More...
03 Aug 2021
Image: Immunoscreening of TIA antigens by SEREX. Bacterial proteins including phage cDNA products were blotted on nitrocellulose membranes and reacted with the sera of patients with transient ischemic attack (TIA); arrows indicate positive phage clones (Photo courtesy of Chiba University)

ALDOA and FH4 Antibodies Associated with Cerebrovascular Disease

Ischemic stroke, including transient ischemic attack (TIA) and cerebral infarction (CI), is the most globally recognized cerebrovascular disorder, and is a serious health problem in the aging society. CI is an episode of neurological dysfunction caused by focal brain infarction, often resulting in fatality and disability. Patients with TIA are at a high risk of CI. More...
28 Jul 2021
Image: Primary angle closure glaucoma can cause permanent blindness if not treated quickly. A highly sensitive genetic test has been developed (Photo courtesy of Flinders University)

Highly Sensitive Genetic Test for Glaucoma Developed

In open-angle glaucoma, the angle in the eye where the iris meets the cornea is as wide and open as it should be, but the eye’s drainage canals become clogged over time, causing an increase in internal eye pressure and subsequent damage to the optic nerve. More...
28 Jul 2021
Image: Neuropathologic analysis of brain tissue from FTLD patients. Ubiquitin immunohistochemistry in cases of familial FTLD demonstrates staining of (a) neurites and neuronal cytoplasmic inclusions in the superficial cerebral neocortex, (b) neuronal cytoplasmic inclusions in hippocampal dentate granule cells, and (c) neuronal intranuclear inclusions in the cerebral neocortex (arrows) (Photo courtesy of Wikimedia Commons)

Neurofilament Light Chain Levels Increase Accuracy of Neurodegenerative Disease Detection

Increased accuracy in early detection of neurodegenerative diseases was obtained by adding determination of levels of neurofilament light chain (NfL) protein in cerebrospinal fluid (CSF) to the framework that combines three Alzheimer's disease biomarkers - pathologic amyloid plaques (A), tangles (T), and neurodegeneration (N), collectively called ATN. More...
27 Jul 2021
Image: Schematic structure of the thrombomodulin protein (Photo courtesy of Wikimedia Commons)

Thombomodulin Identified as Unique Biomarker for Diagnosing Necrotizing Soft-Tissue Infections

Thrombomodulin, a protein present in blood plasma, is a biomarker that may be useful for diagnosing necrotizing soft-tissue infections. More...
26 Jul 2021
Image: The Lumipulse G β-amyloid 1-40 assay kit (Photo courtesy Fujirebio)

APOE Gene Influences Alzheimer's Symptoms, Biomarkers in Down Syndrome

Individuals with Down syndrome (DS) constitute a population at ultrahigh risk of developing Alzheimer disease (AD) because of trisomy of chromosome 21, which harbors the amyloid precursor protein (APP) gene. More...
22 Jul 2021
Image: Axiom Genome-Wide Population-Optimized Human Arrays are genotyping panels that offer the best genetic coverage of rare and common variants for genome-wide disease association studies (Photo courtesy of Thermo Fisher Scientific)

Preemies' Blood Type Tied to Risk for Necrotizing Enterocolitis

Necrotizing enterocolitis (NEC) and focal intestinal perforation (FIP) are two of the most common emergencies of the gastrointestinal tract in preterm infants with very low birth weight (VLBW). The etiology and pathogenesis of NEC and FIP remain poorly understood. More...
21 Jul 2021
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