Genetics

  • Alpha-1 antitrypsin deficiency: A persistently underrecognized condition

    James K. Stoller, MD, MS
    • Cleveland Clinic Journal of Medicine March 2026, 93 (3) 153-157;
    • DOI: https://doi.org/10.3949/ccjm.93a.25103

    • Detecting alpha-1 antitrypsin deficiency early is imperative because diagnostic delay is associated with harm, including worsened clinical status and impaired survival.

  • Anchors away

    Brian F. Mandell, MD, PhD
    • Cleveland Clinic Journal of Medicine November 2023, 90 (11) 652-653;
    • DOI: https://doi.org/10.3949/ccjm.90b.11023

    • Before you read this, I recommend that you read the interesting article in this issue by Prakash et al, part of our Symptoms to Diagnosis series.

  • Is the MTHFR gene mutation associated with thrombosis?

    Andrew Dhawan, MD, DPhil and Charis Eng, MD, PhD
    • Cleveland Clinic Journal of Medicine November 2023, 90 (11) 661-663;
    • DOI: https://doi.org/10.3949/ccjm.90a.23044

    • Clinicians should educate patients with this common polymorphism about the lack of evidence for associated thrombotic risk, and instead focus on modifiable risk factors for thrombosis.

  • The cost of ‘free’: Advising patients about sponsored genetic testing

    Stephanie Allison Larson, PhD, HEC-C, Joseph Liu, MS, David Flannery, MD, Marsha Michie, PhD and Paul J. Ford, PhD
    • Cleveland Clinic Journal of Medicine March 2023, 90 (3) 161-164;
    • DOI: https://doi.org/10.3949/ccjm.90a.22010

    • A breakdown of benefits and drawbacks of sponsored genetic testing that clinicians can use to help patients make informed decisions.

  • Altered mental status in a man with metabolic syndrome

    Bernie P. Wu, BS, Molly Wheeler, PharmD, Jennifer K. Hockings, PharmD, PhD, Andrew Coulter, MD and Leopoldo Pozuelo, MD
    • Cleveland Clinic Journal of Medicine August 2022, 89 (8) 445-450;
    • DOI: https://doi.org/10.3949/ccjm.89a.21050

    • A 25-year-old man with bipolar I disorder, hypertension, posttraumatic stress disorder, and obesity was found unresponsive with shallow breathing and foaming at the mouth.

  • Spotty skin pigmentation in Carney complex

    Azusa Sano, MD, Yosuke Ono, MD, PhD, Naoya Fujita, MD and Yuji Tanaka, MD, PhD
    • Cleveland Clinic Journal of Medicine June 2022, 89 (6) 307-308;
    • DOI: https://doi.org/10.3949/ccjm.89a.21069

    • Characteristic skin findings and their locations can indicate underlying hereditary lentiginosis syndromes.

  • Breast cancer risk evaluation for the primary care physician

    Christine L. Klassen, MD, Elizabeth Gilman, MD, Aparna Kaur, MD, Sara P. Lester, MD and Sandhya Pruthi, MD
    • Cleveland Clinic Journal of Medicine March 2022, 89 (3) 139-146;
    • DOI: https://doi.org/10.3949/ccjm.89a.21023

    • The authors offer a systematic approach to the assessment and management of patients at risk of breast cancer.

  • Rapid cognitive decline and myoclonus in a 52-year-old woman

    William Gravley, MS, Caleb Murphy, MD, MBA, Chia-Dan Kang, MD and Badrunnisa Hanif, MD
    • Cleveland Clinic Journal of Medicine October 2021, 88 (10) 572-583;
    • DOI: https://doi.org/10.3949/ccjm.88a.20004

    • Symptoms also included confusion, blank staring, blurred vision, incoordination of the extremities, decreased verbal communication, and holding her left hand in a fist.

  • Tuberous sclerosis complex

    Jesica Martín Carmona, MD, Elisabeth Gómez Moyano, MD, PhD, Ana Raquel de Castro Almeida, MD and Leandro Martínez Pilar, MD, PhD
    • Cleveland Clinic Journal of Medicine July 2021, 88 (7) 367-368;
    • DOI: https://doi.org/10.3949/ccjm.88a.20075

    • A rare disorder caused by mutations of tumor-suppressor genes.

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    Pregnancy in a woman with congenitally corrected transposition of the great arteries

    Sarah A. Goldstein, MD, Lisa Sorenson, CNP, Jeffrey B. Chapa, MD and Richard A. Krasuski, MD
    • Cleveland Clinic Journal of Medicine April 2021, 88 (4) 228-236;
    • DOI: https://doi.org/10.3949/ccjm.88a.20136

    • She presents with nausea and emesis 7 weeks after her last menstrual period.

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