Genetics

  • 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.

  • Eruptive xanthoma: Warning sign of systemic disease
    Gillian Roga, MD and Madhukhara Jithendriya, DNB
    Cleveland Clinic Journal of Medicine October 2016, 83 (10) 715-716; DOI: https://doi.org/10.3949/ccjm.83a.15126

    Initial laboratory testing showed a triglyceride level of 5,742 mg/dL.

  • Alpha-1 antitrypsin deficiency: An underrecognized, treatable cause of COPD
    Alpha-1 antitrypsin deficiency: An underrecognized, treatable cause of COPD
    James K. Stoller, MD, MS
    Cleveland Clinic Journal of Medicine July 2016, 83 (7) 507-514; DOI: https://doi.org/10.3949/ccjm.83a.16031

    Known cases of this common genetic disease are just the tip of the iceberg.

  • Celiac disease: Managing a multisystem disorder
    Celiac disease: Managing a multisystem disorder
    Gursimran Singh Kochhar, MD, CNSC, FACP, Tavankit Singh, MD, Anant Gill, MBBS and Donald F. Kirby, MD, FACP, FACN, FACG, AGAF, CNSC, CPNS
    Cleveland Clinic Journal of Medicine March 2016, 83 (3) 217-227; DOI: https://doi.org/10.3949/ccjm.83a.14158

    This autoimmune disorder can cause symptoms that involve not only the gastrointestinal tract but also the skin and bones.

  • The microbiome in celiac disease: Beyond diet-genetic interactions
    Jose U. Scher, MD
    Cleveland Clinic Journal of Medicine March 2016, 83 (3) 228-230; DOI: https://doi.org/10.3949/ccjm.83a.15123

    Evidence points to the mix of bacteria that make the gut their home, collectively called the microbiome.

  • A tale of two sisters with liver disease
    Mohamad A. Hanouneh, MD, Ari Garber, MD, EdD, Anthony S. Tavill, MD, FAASLD, Nizar N. Zein, MD, FAASLD and Ibrahim A. Hanouneh, MD
    Cleveland Clinic Journal of Medicine February 2016, 83 (2) 109-115; DOI: https://doi.org/10.3949/ccjm.83a.15048

    A young woman presents with acute liver failure. What is the cause? Is her sister at risk?

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