Genetics

  • Modifying genetic diseases: Promises to be realized?
    Brian F. Mandell, MD, PhD
    Cleveland Clinic Journal of Medicine January 2020, 87 (1) 7-8; DOI: https://doi.org/10.3949/ccjm.87b.01020

    Genetic engineering offers hope to patients and families who previously had little.

  • Vaping: The new wave of nicotine addiction
    Perry Dinardo, BA and Ellen S. Rome, MD, MPH
    Cleveland Clinic Journal of Medicine December 2019, 86 (12) 789-798; DOI: https://doi.org/10.3949/ccjm.86a.19118

    Despite perceptions that vaping is harmless and claims that it can aid in smoking cessation, risks are emerging.

  • Pediatric cholestatic liver disease: Successful transition of care
    Pediatric cholestatic liver disease: Successful transition of care
    Praveen Kumar Conjeevaram Selvakumar, MD, Vera Hupertz, MD, Naveen Mittal, MD, Kris V. Kowdley, MD and Naim Alkhouri, MD
    Cleveland Clinic Journal of Medicine July 2019, 86 (7) 454-464; DOI: https://doi.org/10.3949/ccjm.86a.18140

    Many more children with liver disease are surviving into adulthood and transitioning to adult care.

  • Laboratory tests in rheumatology: A rational approach
    Ernest Suresh, MD, FRCP (LONDON)
    Cleveland Clinic Journal of Medicine March 2019, 86 (3) 198-210; DOI: https://doi.org/10.3949/ccjm.86a.18076

    Negative results are not always reassuring, and false-positive results pose risks.

  • When stroke runs in the family
    Nellowe Candelario, MD and Kevin Bryan Lo, MD
    Cleveland Clinic Journal of Medicine October 2018, 85 (10) 743-744; DOI: https://doi.org/10.3949/ccjm.85a.18055

    CADASIL—cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy—is due to a mutation in NOTCH3.

  • Bicuspid aortic valve: Basics and beyond
    Shailee Y. Shah, MD, Andrew Higgins, MD and Milind Y. Desai, MD
    Cleveland Clinic Journal of Medicine October 2018, 85 (10) 779-784; DOI: https://doi.org/10.3949/ccjm.85a.17069

    What further testing does this 34-year-old patient need? Can he play sports? Does his newborn son need evaluation?

  • In reply: Aortic aneurysm: Fluoroquinolones, genetic counseling
    Vidyasagar Kalahasti, MD, Frank Cikach, MD, Milind Y. Desai, MD, FACC, FAHA, FESC and Eric E. Roselli, MD, FACS
    Cleveland Clinic Journal of Medicine September 2018, 85 (9) 662; DOI: https://doi.org/10.3949/ccjm.85c.09003
  • Thoracic aortic aneurysm: How to counsel, when to refer
    Thoracic aortic aneurysm: How to counsel, when to refer
    Frank Cikach, MD, Milind Y. Desai, MD, FACC, FAHA, FESC, Eric E. Roselli, MD, FACS and Vidyasagar Kalahasti, MD
    Cleveland Clinic Journal of Medicine June 2018, 85 (6) 481-492; DOI: https://doi.org/10.3949/ccjm.85a.17039

    Be alert for clues on chest imaging, and consider screening fi rst-degree relatives of patients known to have aortic disease.

  • Hypertrophic cardiomyopathy: A complex disease
    Hypertrophic cardiomyopathy: A complex disease
    Laura Young, MD, Nicholas G. Smedira, MD, Albree Tower-Rader, MD, Harry Lever, MD and Milind Y. Desai, MD
    Cleveland Clinic Journal of Medicine May 2018, 85 (5) 399-411; DOI: https://doi.org/10.3949/ccjm.85a.17076

    Most people who carry its mutations are never affected, but, rarely, some patients die suddenly at a young age.

  • Plexiform neurofibroma
    Satvinder Singh Bakshi, MS, DNB
    Cleveland Clinic Journal of Medicine November 2016, 83 (11) 792; DOI: https://doi.org/10.3949/ccjm.83a.16002

    A 19-year-old woman presented with diffuse swelling on her neck and face that had been growing gradually for 12 years.

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