Genetic Disorders and Birth Defects

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    A Neurosurgery, answered on behalf of
    How Are Stem Cells Used in Spine Surgery?
    Christopher Koebbe, MD, neurosurgeon at Largo Medical Center explains the advantages to using stem cells in spinal surgery. Learn more in this video.
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    Ribonucleic acid (RNA) is a polymer that is present in every cell in every living thing on earth. Along with DNA (deoxyribonucleic acid) and proteins, RNA is essential to all forms of life. RNA carries out many important functions within a cell including the following.
    • RNA transmits genetic information from DNA cells to proteins produced by the cell.
    • RNA regulates cell division, cell differentiation and growth.
    • RNA regulates cell aging and death.
    • RNA regulates when and how much protein is made in a cell.
    • RNA can act as enzymes to speed chemical reactions.
    Diseases including heart disease, stroke and some cancers may involve defects in RNA. Because RNA is central to all biological processes, some scientists are studying RNA to look for new therapies for treating human disease.
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    A medical geneticist is a medical doctor (MD) or a doctor of osteopathy (DO) who specializes in medicine that involves the interaction between genes and health. Medical geneticists are trained to identify genetic disorders and birth defects, to understand and explain the impact on the lives of people who have these disorders or birth defects, to manage and treat the condition, and to help the person and the person’s family cope and manage the condition and refer them to resources in the community. A medical geneticist can also plan and coordinate screenings for genetic diseases.

    According to the American Board of Medical Genetics and Genomics (ABMGG), a clinicalgeneticist:
    • has earned an M.D. or D.O. degree
    • has had one year in anAccreditation Council for Graduate Medical Education (ACGME)-accredited primary care residency (pediatrics, internal medicine, obstetrics and gynecology, and/or family medicine)
    • has also completed two years in an ACGME-accredited residency in clinical genetics categorical residency or completion of a four-year combined residency training program (pediatrics/genetics, internal medicine/genetics or maternal-fetal medicine/genetics)
    • holds a valid and unrestricted medical license
    • demonstrates competence to provide comprehensive genetic diagnostic, management, therapeutic, and counseling services
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    Approved for use in cystic fibrosis (CF) patients ages 12 and up, Orkambi is a tablet that contains two drugs, lumacaftor and ivacaftor. It is intended for those CF patients who have two copies of the F508del mutation in the CFTR gene, which is about half of those in the United States. CF causes dangerous buildups of thick mucus in the body, causing breathing and digestive problems as well as susceptibility to diabetes and infection. The combination of medications helps the defective protein from the CFTR gene function normally. The recommended dose is once every 12 hours. Orkambi raises the risk for liver problems, and patients already suffering liver disease may not be good candidates for this medication. Side effects are unusual, but include nausea, diarrhea, gas, fatigue, and rash. Because some breathing problems, as well as upper respiratory tract infections, have been reported in users, patients new to Orkambi are monitored.
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    A cystic fibrosis sweat test is a laboratory test that measures the amount of chloride in a sample of sweat taken from a child who is suspected of having cystic fibrosis, an inherited disease that can cause repeated lung infections in children. Children who have cystic fibrosis typically have much higher levels of chloride in their sweat than children who do not have the disease.

    In this painless test, an electrode is placed on a small area of a child's leg or arm and a very weak electrical current is transmitted to the area to stimulate perspiration. The sweat is collected on a piece of gauze or filter paper for a period of 30 minutes, and sent to a laboratory for analysis. A result of 60 millimoles per liter or greater means a child likely has cystic fibrosis.
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    Can you repair a telomere?
    Telomeres (strings of DNA that protect chromosomes) shorten due to stress. the enzyme telomerase can lengthen them again. In this video, Elissa Epel, PhD, associate professor of Psychiatry at the University of California, San Francisco, explains.
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    The genetic mutation that results in cystic fibrosis results in extremely thick secretions in the respiratory tract, digestive system and sweat glands. This eventually leads to lung infections, difficulties with digestion and nutrition, among other complications. The abnormal sweat gland secretions may be used to diagnose this disease.
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    There are two main sources of stem cells: embryonic stem cells and adult stem cells. Some clinical trials for heart disease use adult stem cells, which are found in bone marrow, fat and other tissues. Stem cells taken from a person’s own body are known as autologous stem cells; those donated by someone else are called allogeneic stem cells.

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    The proteins that control inflammation are called cytokines, and they regulate every aspect of your biology. Cytokines are messenger molecules. They turn on or off virtually all the metabolic pathways in each tissue and cell in your body. Each tissue has its own specific cytokines, but they cross-react to coordinate growth or decay throughout your body.

    Hundreds, perhaps even thousands, of cytokines are at work in your body, regulating growth and decay down to the most microscopic level.
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    What Is a Lung Transplant Like for Someone with Cystic Fibrosis?

    People with cystic fibrosis sometimes end up needing a lung transplant. In this video, Dr. Oz interviews a patient who needed a new set of lungs and the surgeon who performed her life-changing transplant surgery.