• Title/Summary/Keyword: 임상 경과

Search Result 2,548, Processing Time 0.023 seconds

Noonan Syndrome Confirmed to KRAS Gene Mutation: A Case of KRAS Gene Mutation (KRAS 유전자 변이로 확진된 Noonan 증후군 신생아 1례)

  • Kim, Sung-Woo;Park, So-Eun;Jeong, In-Hyuk;Yoon, Jeong-Won;Lee, Cho-Ae;Jeon, Ji-Hyun
    • Neonatal Medicine
    • /
    • v.18 no.2
    • /
    • pp.374-378
    • /
    • 2011

  • Noonan syndrome is an autosomal dominant disorder characterized by typical facial features, congenital heart disease, and short stature. Diagnosis is difficult only with clinical symptoms and it is recently confirmed with gene study. The genotype-phenotype correlations have been reported. We report a newborn with KRAS gene mutation. This is the second report of case with KRAS gene mutation in Korea. So we hope this case will be a help to diagnosis and treatment of Noonan syndrome from birth.

  • https://doi.org/10.5385/jksn.2011.18.2.374 인용 KSCI

A Comparative Analysis of Deficiency-Excess Pattern Identification with Sputum Cytokines and the Characteristics of Asthma Patients (천식환자 허실변증과 객담 cytokine 및 특성 비교분석)

  • Do, Ha-yoon;Yu, Chang-hwan;Kang, Sung-woo;Kim, Kwan-il;Lee, Beom-joon;Jung, Hee-jae
    • The Journal of Internal Korean Medicine
    • /
    • v.40 no.4
    • /
    • pp.582-596
    • /
    • 2019

  • Objective: The aims of this study were to analyze the deficiency-excess pattern identification (虛實辨證) and compare it to the sputum cytokines of asthma patients. Method: 50 asthma patients who met the inclusion and exclusion criteria were included in this study. They were divided into two groups: deficiency and excess syndrome groups. Sputum examinations were performed including $TNF-{\alpha}$, Interleukin (IL)-4, IL-5, IL-10, and IL-13. The Quality of Life Questionnaire for Adult Korean Asthmatics (QLQAKA), the Visual Analog Scale(VAS), and heart rate variability (HRV) were also measured. We also conducted laboratory tests, including the hematological indexes. Results: Based on the pattern identification, 50 asthma patients can be divided into two categories of groups: the deficiency syndrome group (N=24) and the excess syndrome group (N=26). In the analysis of sputum cytokines, although the $TNF-{\alpha}$, IL-4 and IL-13 were at a higher level in the deficient pattern group than in the excess pattern group, it was insignificantly different. There was a negative correlation in the analysis of QLQAKA and VAS. In the analysis of HRV, although the mean value of VLF, LF, and HF in the deficiency syndrome group was higher than in the excess syndrome group, it was insignificantly different. There was no significant difference in the hematological tests between the deficiency and the excess syndrome group. The mean value of the IgE in the blood tests was five times greater than the reference value. Conclusion: The cytokines of sputum including $TNF-{\alpha}$, IL-4, IL-5, IL-10, and IL-13 were indifferent statistically. Reinforcing the healthy and eliminating the pathogenic factors should be considered.

  • https://doi.org/10.22246/jikm.2019.40.4.582 인용 PDF KSCI

Clinical Course of Aplasia Cutis Congenita (선천성 피부 무형성증의 임상 경과)

  • Kim, Ji-Young;Lee, Yeon-Kyung;Ko, Sun-Young;Kim, Kyung-A;Shin, Son-Moon
    • Neonatal Medicine
    • /
    • v.18 no.2
    • /
    • pp.359-364
    • /
    • 2011

  • Purpose: Aplasia cutis congenita (ACC) is a rare condition characterized by a localized absence of skin, and it can be associated with other congenital anomalies. This study was done to evaluate clinical course and outcome of ACC in neonates. Methods: Based on the medical records, we retrospectively reviewed 8 neonates diagnosed with ACC at Cheil General Hospital and Women's Health Care Center, Kwandong university College of Medicine from January 2004 to December 2010. We classified ACC by Frieden's classification and analyzed the patient's demographic data, clinical course and outcome. Results: Among 8 patients with ACC, 5 patients were classified to group 1; scalp ACC without anomalies and 3 patients to group 7; ACC localized to extremities without blistering. Defect size was from 0.3 cm to 1.5 cm, limited in the superficial skin or subcutaneous tissue without associated anomalies. Defects were healed under conservative treatment with mild scar formation within four months. Conclusion: ACC could be diagnosed easily through physical examination in neonates. All cases showed good clinical outcome without surgical treatment. However because of small numbers and small sized defects of cases, further study including lesions of large size is needed.

  • https://doi.org/10.5385/jksn.2011.18.2.359 인용 KSCI