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Molecular Diagnostics

Image: Histopathology of classic medulloblastoma in the brain showing a diffuse pattern of tumor growth with poor cellular differentiation, nuclear molding, and minimal indistinct cytoplasm (Photo courtesy of Adekunle M. Adesina, MD, PhD)

Novel Inherited Mutation Predisposes Children to Medulloblastoma

Cancer genomics has revealed many genes and core molecular processes that contribute to human malignancies, but the genetic and molecular bases of many rare cancers remains unclear. Genetic predisposition accounts for 5% to 10% of cancer diagnoses in children. More...
16 Apr 2020
Image: Colored transmission electron microscopy of the coronavirus. SARS-CoV-2–positive sputum and feces was found after conversion of pharyngeal samples in patients with COVID-19. This virus was isolated from the fecal matter of a patient with diarrhea (Photo courtesy of BSIP/UIG)

SARS-CoV-2 Found in Sputum/Feces After Negative Pharyngeal Specimens

The outbreak of coronavirus disease 2019 (COVID-19) has become a global public health problem. In the absence of a specific therapy or vaccine, timely diagnosis and the establishment of a sufficient isolation period for infected individuals are critical to containment efforts. More...
14 Apr 2020
Image: The 96-capillary 3730xl DNA Analyzer is the Gold Standard for high throughput genetic analysis and used for Sanger sequencing (Photo courtesy of Thermo Fisher Scientific)

Susceptibility Gene Identified for Idiopathic Pulmonary Arterial Hypertension

Idiopathic pulmonary arterial hypertension (IPAH) is a lung disorder characterized by high blood pressure in the pulmonary arteries. In this instance, “idiopathic” means that the cause of the pulmonary artery hypertension is unknown. More...
14 Apr 2020
Image: Micrograph of non-alcoholic fatty liver disease, demonstrating marked steatosis (fat in liver cells appears white; connective tissue, blue) (Photo courtesy of Wikimedia Commons)

Protein Biomarker Is Early Predictor of Likelihood of Developing Liver Disease

Results obtained during a recent study suggest that neuronal regeneration related protein (NREP) can be used as an early biomarker for the detection of nonalcoholic fatty liver disease (NAFLD). More...
13 Apr 2020
Image: Histological sections of a moderately well differentiated squamous cell carcinoma of the lung showing infiltrating sheets and tongues of malignant squamous cells with whorls of keratin (Photo courtesy of Department of Health Western Australia).

Liquid Biopsy Lung Cancer Screening Method Developed

Genomic blood tests for cancer screening and early detection have become the focus of attention in the molecular diagnostic space, though most activity so far has been either toward pan-cancer screening tools, or in a few other specific tumor types like colorectal cancer, where tests hope to vie against colonoscopy and existing stool-based methods. More...
09 Apr 2020
Image: Structure of the phosphoglycerate dehydrogenase (PHGDH) enzyme (Photo courtesy of Wikimedia Commons)

Circulating RNA Biomarker Predicts Likelihood of Developing Alzheimer’s Disease

Elevated levels of a circulating RNA biomarker were found to be characteristic for individuals with Alzheimer’s disease (AD) and could be used to predicate whether an asymptomatic person would be likely to develop the disorder. More...
09 Apr 2020
Image: Photomicrograph of a vaginal epithelial clue cell coated with Gardnerella vaginalis (Photo courtesy of Universidad Autónoma de Zacatecas).

Potential Microbial Markers Identified for Cervical Pre-Cancer Progression

Human papillomavirus (HPV) infection is one of the most common sexually transmitted infections. However, only a small percentage of high-risk (HR) HPV infections progress to cervical pre-cancer and cancer. The role of the cervicovaginal microbiome (CVM) in the natural history of HR-HPV has been investigated. More...
08 Apr 2020
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