A user-friendly open-source web tool for analyzing WES and WGS in the diagnosis of patients with Mendelian disorders. An open-source software tool called Mendel,MD could help doctors analyze patients’ genetic data in order to diagnose diseases caused by mutations. Developed by Raony Cardenas and colleagues at Universidade Federal de Minas Gerais, Brazil, the tool...
Category: <span>Diagnostic</span>
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Vocal Biomarkers: New Opportunities in Prevention
Vocal biomarkers have amazing potential in reforming diagnostics through their accuracy, speed and cost-effectiveness in the areas of mental illnesses as well as physical diseases such as Parkinson’s or coronary artery disease. Your voice betrays you, princess! The line has a long tradition in literature and cinematography. Its earliest presence might be in the Tales...
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Dried blood diagnosed as viable alternative to liquid samples
A new study indicates that dried blood samples could replace frozen liquid samples in diagnosis and research Blood samples are one of medicine’s most powerful diagnostic tools, but taking and storing liquid blood samples is expensive and time consuming. To bring down costs and broaden the use of samples, researchers at Uppsala University are studying the...
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Tracking cancer’s signaling pathways
Malignant melanoma is one of the most common and dangerous types of cancer. Researchers at Friedrich-Alexander Universität Erlangen-Nürnberg (FAU) investigated how and why brown pigmented moles turn into malignant melanoma using innovative robot technology. The insights gained can simplify methods of diagnosis in the future; furthermore, they suggest that certain cosmetic products and creams should...
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Raised blood platelet levels ‘strong predictor’ of cancer
Having a high blood platelet count is a strong predictor of cancer and should be urgently investigated to save lives, according to a large-scale study. Around two per cent of people over 40—up to half a million people in the UK—have a raised blood platelet count—known as thrombocytosis. Now, a study of 40,000 patient records led by...
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Scientists develop a quick, cheap and portable test for diagnosing tuberculosis
This photomicrograph reveals Mycobacterium tuberculosis bacteria using acid-fast Ziehl-Neelsen stain; Magnified 1000 X. The acid-fast stains depend on the ability of mycobacteria to retain dye when treated with mineral acid or an …more A microchip-based test developed by A*STAR researchers can diagnose tuberculosis in 15 minutes. The test meets the speed, cost, accessibility and disposal...
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Scientists identify biomarkers to guide hormone therapy for prostate cancer
A test commonly used in breast cancer has been found to also identify which patients with aggressive prostate cancer will benefit from hormonal therapy, according to a study led by scientists at UC San Francisco and the University of Michigan. While hormone therapy has been used successfully to treat many prostate cancer patients, until now, researchers have been...
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New gene identified in Lou Gehrig’s disease
This stylistic diagram shows a gene in relation to the double helix structure of DNA and to a chromosome (right). The chromosome is X-shaped because it is dividing. Introns are regions often found in eukaryote genes that are removed in the …more For the first time, a variant in UBQLN4 gene has been associated with...
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New blood test is more accurate in predicting prostate cancer risk than PSA
Eric Klein, M.D., is chair of Cleveland Clinic’s Glickman Urological & Kidney Institute. A team of researchers from Cleveland Clinic, Louis Stokes Cleveland VA Medical Center, Kaiser Permanente Northwest, and other clinical sites have demonstrated that a new blood test known as IsoPSA detects prostate cancer more precisely than current tests in two crucial...
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Common hard-to-treat brain disease starts in the GUT, study reveals
CCM disease, which occurs in one in 100 people, causes stroke and seizures Tests on mice showed certain gut bacteria triggered the formation of clusters that cause these seizures Looking at human models it seems the same is true for people Gut bacteria could be the cause of a crippling hard-to-treat brain disease, a new...