Genetics

  • 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.

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

  • Male and female pattern hair loss: Treatable and worth treating
    Nina L. Tamashunas, BS and Wilma F. Bergfeld, MD, FAAD
    Cleveland Clinic Journal of Medicine March 2021, 88 (3) 173-182; DOI: https://doi.org/10.3949/ccjm.88a.20014

    Early recognition and treatment can help preserve as much hair as possible.

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