Scientific Information Database (SID) - Trusted Source for Research and Academic Resources

video

Scientific Information Database (SID) - Trusted Source for Research and Academic Resources

sound

Scientific Information Database (SID) - Trusted Source for Research and Academic Resources

Persian Version

Scientific Information Database (SID) - Trusted Source for Research and Academic Resources

View:

233
Scientific Information Database (SID) - Trusted Source for Research and Academic Resources

Download:

115
Scientific Information Database (SID) - Trusted Source for Research and Academic Resources

Cites:

Information Journal Paper

Title

CLINICAL MANIFESTATIONS AND MOLECULAR BIOLOGY OF ONE CASE OF CARNEY COMPLEX: A CASE REPORT

Pages

  597-602

Abstract

 Carney complex (CNC) is a rare genetic disease. Here, we report a case of CNC and explore clinical manifesta-tions and gene mutation studies of CNC. A male patient with CNC at the age of 16 yr was admitted to Affiliated Hospital of Zunyi Medical University in July, 2015. Although the patient had typical signs of Cushing's syn-drome, he also presented with certain rare signs of Cushing's syndrome, such as "freckle-like" scattered spots of pigmentation on the face and around the lips. In addition, concomitant severe osteoporosis led to flattened ver-tebrae and the compression of corresponding levels of the spinal cord. Radiographic findings revealed adrenal nodular hyperplasia. Based on sequencing, 2 novel heterozygous mutations of the PRKAR1A GENE were found. CNC was eventually diagnosed via pathologic biopsy. After 1 year of follow-up, the patient exhibited weight loss, relief of low back pain, normal blood biochemical indicators and cortisol levels at the lower limit of the normal range.

Cites

  • No record.

    • References

  • No record.

    • Cite

    APA: Copy

    YANG, MENGXUE, LONG, BIAO, XU, JIE, JIE, YU, LI, XIANWEN, YE, FANHAO, YANG, BO, LIAO, YULAN, LI, SICHENG, LI, YA, & ZHOU, XUE. (2018). CLINICAL MANIFESTATIONS AND MOLECULAR BIOLOGY OF ONE CASE OF CARNEY COMPLEX: A CASE REPORT. IRANIAN JOURNAL OF PUBLIC HEALTH, 47(4), 597-602. SID. https://sid.ir/paper/274539/en

    Vancouver: Copy

    YANG MENGXUE, LONG BIAO, XU JIE, JIE YU, LI XIANWEN, YE FANHAO, YANG BO, LIAO YULAN, LI SICHENG, LI YA, ZHOU XUE. CLINICAL MANIFESTATIONS AND MOLECULAR BIOLOGY OF ONE CASE OF CARNEY COMPLEX: A CASE REPORT. IRANIAN JOURNAL OF PUBLIC HEALTH[Internet]. 2018;47(4):597-602. Available from: https://sid.ir/paper/274539/en

    IEEE: Copy

    MENGXUE YANG, BIAO LONG, JIE XU, YU JIE, XIANWEN LI, FANHAO YE, BO YANG, YULAN LIAO, SICHENG LI, YA LI, and XUE ZHOU, “CLINICAL MANIFESTATIONS AND MOLECULAR BIOLOGY OF ONE CASE OF CARNEY COMPLEX: A CASE REPORT,” IRANIAN JOURNAL OF PUBLIC HEALTH, vol. 47, no. 4, pp. 597–602, 2018, [Online]. Available: https://sid.ir/paper/274539/en

    Related Journal Papers

  • No record.

    • Related Seminar Papers

  • No record.

    • Related Plans

  • No record.

    • Recommended Workshops






    Move to top