When babies are born with congenital hydrocephalus (CH), a condition traditionally thought to be a result of a buildup of cerebrospinal fluid (CSF) in the brain, neurosurgeons normally treat the condition by surgically implanting ...
Nov 5, 2020
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Every year, up to 1% of patients with chronic lymphocytic leukemia (CLL), a slow-growing blood cancer, have their disease transform into a far more aggressive cancer, a form of lymphoma known as Richter's syndrome. For the ...
Dec 12, 2022
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(Medical Xpress)—A large team of researchers with members from several universities and hospitals in the U.S. has developed a sequencing platform that generates "clinical-grade" data using whole exome sequencing (WES) from ...
Epilepsy affects approximately 1-in-26 people and the most common form, known as temporal lobe epilepsy (TLE), often cannot be adequately treated with anti-seizure medications. Patients with this form of epilepsy may require ...
May 1, 2023
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Children who undergo expansive genetic sequencing may not be getting the thorough DNA analysis their parents were expecting, say experts at UT Southwestern Medical Center.
Jan 6, 2020
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Sarcomas—cancers that arise from transformed mesenchymal cells (a type of connective tissue)—are quite deadly. Gastrointestinal stromal tumors (GISTs) are the most common human sarcoma and are initiated by activating ...
Oct 24, 2019
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Much of precision medicine and cancer care focuses on targeting the genomes of specific tumors or metastases. A Weill Cornell Medical College research team has now shown that a more global look at the body using next-generation ...
Jun 2, 2015
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Among individuals who consented to whole-exome sequencing and were identified as carriers of predisposition genes for hereditary breast and ovarian cancer (HBOC) or Lynch syndrome, 39.2% would not have qualified for genetic ...
Apr 18, 2023
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"Mr. and Mrs. Smith, we finally have an answer for you." The couple, whose real names we are protecting for privacy, looked at me anxiously. I had been evaluating their young daughter, Sally, in my role as a medical geneticist ...
Apr 20, 2022
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A new kind of prenatal genetic testing can improve obstetricians' ability to diagnose the underlying causes of fetal anomalies found during prenatal ultrasounds. But the results require expert interpretation, according to ...
Jan 31, 2019
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