Medical transcriptionists work behind the scenes. Most of us don’t see them or use the product of their work, but they are incredibly important to the health care industry. There are about 60,000 transcriptionists in the nation. They spend their days listening to recordings by doctors and other health care workers and converting them into written reports. Often they edit medical documents and convert medical terminology and abbreviations into more complete written documentation.
Join us in celebrating them and their work this week during National Medical Transcriptionist Week. Thank you!
Results of a Long QT Syndrome study in the current issue of Circulation play an important role in understanding genetic testing’s role in diagnosing disease, according to the senior author, Michael Ackerman, M.D., Ph.D., the Mayo Clinic pediatric cardiologist who directs Mayo’s Long QT Syndrome Clinic and is the director of the Mayo Clinic Windland Smith Rice Sudden Death Genomics Laboratory.
LQTS is a disorder of the electrical system of the heart and affects 1 in 2,500 people.
In the multi-center study that involved Dr. Arthur Wilde in the Netherlands and scientists from PGxHealth, genetic testing results of nearly 400 “slam dunk” LQTS patients and nearly 1,400 healthy volunteers showed that there is a background noise rate of rare variants present in about 4 percent of healthy Caucasian volunteers and that mutation type and mutation location are critical determinants to distinguish this background noise from true LQTS-causative mutations, Dr. Ackerman says.
“Our research shows that genetic testing is just one piece of the information a physician needs to look at,” he says. The results demonstrate that genetic testing does not give a “yes or no” answer for LQTS or other diseases, and it means that physicians need to meticulously interpret this particular diagnostic test with the same scrutiny and tenacity as any other diagnostic test, such as the electrocardiogram (ECG). “It’s proving what we’ve long know in genetic testing circles — that these are not binary tests but are probabilistic tests whereby some test results are going to provide ‘no-doubt-about-it’ diease mutations. Whereas other test results may report a mutation whose pathogenicity is uncertain.”
The Circulation paper is another critical piece in the maturation of LQTS genetic testing from discovery, translation, implementation and now post-implementation interpretation, Dr. Ackerman says. First clinically described in 1957, it took until 1995 until the first genes were discovered. In 2004, the first clinically available test for LQTS became available in North America.
In LQTS, approximately 5 percent to 10 percent of the time, its first symptom is sudden death, often related to physical exertion or auditory triggers such as an alarm clock. However, most cases can be diagnosed following warning signs (sudden, without warning, fainting spells or concerning family history) that suggest its potential presence and from objective data derived from an electrocardiogram (ECG), exercise or adrenalin stress testing, and genetic testing.
Mayo Clinic and Dr. Ackerman have a financial interest in LQTS technology. This technology has been licensed to a commercial entity and both Mayo Clinic and Dr. Ackerman receive royalties from that license.
For many years, doctors have known that screening for certain cancers saves lives. Breast cancer and prostate cancer are two examples. Now you can add lung cancer to that list. The National Lung Screening Trial results show screening people at high risk of lung cancer with CT scans lives. To learn more, visit http://mayocl.in/2xJdaq0
In a study published in Nature Communications, Dr. Muhammed Murtaza, who holds a joint appointment at Mayo Clinic and Translational Genomics Research Institute (TGEN), and colleagues, describe an extensive comparison between biopsy results and analysis of ctDNA in a patient with breast cancer.
In the following video, Dr. Murtaza describes how circulating tumor DNA in blood could inform physicians on best treatments for individual patients.
For more information, visit:
►Mayo Clinic Center for Individualized Medicine: http://mayoresearch.mayo.edu/center-for-individualized-medicine/?mc_id=us&utm_source=youtube&utm_medium=sm&utm_content=video&utm_campaign=mayoclinic&geo=national&placementsite=enterprise&cauid=100504
X-linked infantile spinal muscular atrophy is a condition that affects only boys and is characterized by severe muscle weakness and absent reflexes (areflexia). Affected children often have multiple joint deformities (contractures) from birth that cause joint stiffness (arthrogryposis) and impair movement. In severe cases, affected infants are born with broken bones. The muscle weakness worsens over time; affected children reach some early motor developmental milestones, such as sitting unassisted, but these skills are often lost (developmental regression).
Additional features of X-linked infantile spinal muscular atrophy include an unusually small chin (micrognathia), abnormal curvature of the spine (scoliosis or kyphosis), and undescended testes (cryptorchidism).
Weakness of the chest muscles used for breathing often leads to life-threatening breathing problems. Children with X-linked infantile spinal muscular atrophy usually do not survive past early childhood due to respiratory failure, although, in rare cases, affected individuals can survive into adolescence.
Systemic mastocytosis is a blood disorder that can affect many different body systems. Individuals with the condition can develop signs and symptoms at any age, but it usually appears after adolescence.
Signs and symptoms of systemic mastocytosis often include extreme tiredness (fatigue), skin redness and warmth (flushing), nausea, abdominal pain, bloating, diarrhea, the backflow of stomach acids into the esophagus (), nasal congestion, shortness of breath, low blood pressure (hypotension), lightheadedness, and headache. Some affected individuals have attention or memory problems, anxiety, or depression. Many individuals with systemic mastocytosis develop a skin condition called urticaria pigmentosa, which is characterized by raised patches of brownish skin that sting or itch with contact or changes in temperature. Nearly half of individuals with systemic mastocytosis will experience severe allergic reactions (anaphylaxis).
There are five subtypes of systemic mastocytosis, which are differentiated by their severity and the signs and symptoms. The mildest forms of systemic mastocytosis are the indolent and smoldering types. Individuals with these types tend to have only the general signs and symptoms of systemic mastocytosis described above. Individuals with smoldering mastocytosis may have more organs affected and more severe features than those with indolent mastocytosis. The indolent type is the most common type of systemic mastocytosis.
The severe types include aggressive systemic mastocytosis, systemic mastocytosis with an associated hematologic neoplasm, and mast cell leukemia. These types are associated with a reduced life span, which varies among the types and affected individuals. In addition to the general signs and symptoms of systemic mastocytosis, these types typically involve impaired function of an organ, such as the , . The organ dysfunction can result in an abnormal buildup of fluid in the abdominal cavity (ascites). Aggressive systemic mastocytosis is associated with a loss of bone tissue (osteoporosis and osteopenia) and multiple bone fractures. Systemic mastocytosis with an associated hematologic neoplasm and mast cell leukemia both involve blood cell disorders or blood cell cancer (). Mast cell leukemia is the rarest and most severe type of systemic mastocytosis.
Individuals with the milder forms of the condition generally have a normal or near normal life expectancy, while those with the more severe forms typically survive months or a few years after diagnosis.