• Clinical and Experimental Pediatrics
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• 제48권3호
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• pp.342-345
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• 2005

저자들은 전신성 홍반성 루푸스 산모에서 출생한 생후 1개월된 신생아에서 매우 드물게 나타나는 항-$U_1RNP$ 항체 양성으로 인한 신생아 홍반성 루푸스 1례를 경험하였기에 그 임상적 특징을 문헌고찰과 함께 보고하는 바이다.

• BMB Reports
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• 제39권2호
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• pp.189-196
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• 2006

Alterations in the amino acid structure or sequence can generate neo-epitopes from self-proteins causing autoaggressive immune attack. Reactive nitrogen species are an important factor that induces post-translational modification of proteins by cellular reduction and oxidation mechanism; cysteinyl-nitrosylation or tyrosine nitration leading to potentially pathogenic pathways. It was thought of interest to investigate the immunogenicity of nitrated poly L-tyrosine vis-$\`{a}$-vis its possible role in the induction of antibodies in systemic lupus erythematosus (SLE). Commercially available poly L-tyrosine was exposed to nitrating species and the damage was monitored by UV spectroscopy and alkaline gel electrophoresis. The results indicated the formation of 3-nitrotyrosine. Nitrated poly L-tyrosine induced higher titre antibodies as compared to the native form. Nitrated poly L-tyrosine was recognized by the autoantibodies present in the sera of patients suffering from SLE by enzyme immunoassays and band shift assay. The possible role of nitrated self-proteins has been discussed in the production of circulating anti-DNA antibodies in SLE.

• Clinical and Experimental Pediatrics
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• 제64권5호
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• pp.208-222
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• 2021

The publication of genetic epidemiology meta-analyses has increased rapidly, but it has been suggested that many of the statistically significant results are false positive. In addition, most such meta-analyses have been redundant, duplicate, and erroneous, leading to research waste. In addition, since most claimed candidate gene associations were false-positives, correctly interpreting the published results is important. In this review, we emphasize the importance of interpreting the results of genetic epidemiology meta-analyses using Bayesian statistics and gene network analysis, which could be applied in other diseases.

• Journal of Chest Surgery
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• 제40권12호
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• pp.867-870
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• 2007

항인지질 증후군(antiphospholipid syndrome)은 정맥, 동맥의 혈전증, 혈소판 감소증, 반복적인 유산 등과 함께 lupus anticoagulant (LAC)와 anticardiolipin antibody (aCL)가 반복적으로 양성 반응을 보이는 질환을 말하며 호흡기 증후 발현은 상대적으로 드물다. 저자들은 항인지질 증후군 및 전신성 홍반성 루푸스 환자에서 발생한 만성적인 폐혈전색전증에 대하여 폐동맥 내막절제술, 특히 원위부에 있는 폐혈전색전증을 왼쪽 폐의 대열을 분리한 뒤 좌하엽 구역 동맥을 절제하여 혈전색전 제거술을 성공적으로 시행하였기에 문헌고찰과 함께 국내 최초로 보고하는 바이다.

• Journal of Preventive Medicine and Public Health
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• 제56권2호
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• pp.154-163
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• 2023

Objectives: Systemic lupus erythematosus (SLE) or lupus patients usually experience various physical and psychological challenges. Since the coronavirus disease 2019 pandemic, these challenges have become even harsher. Using the participatory action research approach, this study evaluated how an e-wellness program (eWP) impacted SLE-related knowledge and health behaviors, mental health, and quality of life among lupus patients in Thailand. Methods: A 1-group, pretest-posttest design study was conducted among a purposive sample of lupus patients who were members of Thai SLE Foundation. The 2 main intervention components were: (1) online social support, and (2) lifestyle and stress management workshops. Sixty-eight participants completed all the study requirements, including the Physical and Psychosocial Health Assessment questionnaire. Results: After being in the eWP for 3 months, participants' mean score for SLE-related knowledge increased significantly (t=5.3, p<0.001). The increase in sleep hours was statistically significant (Z=-3.1, p<0.01), with the percentage of participants who slept less than 7 hours decreasing from 52.9% to 29.0%. The percentage of participants reporting sun exposure decreased from 17.7% to 8.8%. The participants also reported significantly lower stress (t(66)=-4.4, p<0.001) and anxiety (t(67)=-2.9, p=0.005). The post-eWP quality of life scores for the pain, planning, intimate relationship, burden to others, emotional health, and fatigue domains also improved significantly (p<0.05). Conclusions: The overall outcomes showed promising results of improved self-care knowledge, health behaviors, mental health status, and quality of life. It is recommended that the SLE Foundation continues to use the eWP model to help the lupus patient community.

• 대한핵의학회지
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• 제37권5호
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• pp.325-330
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• 2003

Purpose: We describe a 54-year-old woman with systemic lupus erythematosus (SLE) who suddenly presented with chorea and had positive antiphospholipid antibodies. F-18 FDG PET showed abnormally increased glucose metabolism in bilateral putamen and primary motor cotex. Tc-99m ECD SPECT also showed abnormally increased regional cerebral blood flow in bilateral putamen. She was treated with corticosteroid and aspirin after which the symptoms improved. Four months later, follow up F-18 FDG PET showed improvement with resolution of hypermetabolism in bilateral putamen. This case suggests that striatal hypermetabolism is associated with chorea in SLE.

• Journal of Yeungnam Medical Science
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• 제34권2호
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• pp.260-264
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• 2017

Klinefelter's syndrome is the most common congenital abnormality that causes primary hypogonadism. It is associated with diseases that predominantly affect women, such as systemic lupus erythematosus (SLE), and it can sometimes cause veno-occlusive disease. We experienced a case of Budd-Chiari syndrome (BCS) in a 33-year-old man with Klinefelter's syndrome presented with hematemesis and edema in both lower extremities. The clinical and laboratory findings were compatible with SLE, antiphospholipid syndrome, and BCS. To the best of our knowledge, this is the first case report to describe a simultaneous presentation of these four clinical syndromes in a single patient.

• Clinical and Experimental Pediatrics
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• 제52권5호
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• pp.611-614
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• 2009

전신 홍반 루푸스는 자가 항원에 대한 자가 항체를 생성하여 염증을 일으켜 다양한 기관에 손상을 주는 자가 면역 질환이다. 발병 원인은 잘 알려져 있지 않으나, 전신 홍반 루푸스 환자의 가족 중에 전신 홍반 루푸스가 일반인보다 20배 이상 발병 위험이 높아 유전적인 요인이 관련되어 있을 것으로 생각된다. 저자들은 형제에서 발병한 가족성 전신 홍반 루푸스 증례를 경험하였고, 전신 홍반 루푸스와 연관된 조직적합 유전자인 HLA DRB1*1501과 DQB1*0602 유전자를 환아모와 형제들이 공유한 것을 발견하였기에 문헌 고찰과 함께 보고하는 바이다.

• Journal of Genetic Medicine
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• 제15권2호
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• pp.92-96
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• 2018

Chronic mucocutaneous candidiasis (CMC) is characterized by increased susceptibility to chronic and recurrent infections of the skin, mucous membranes, and nails by Candida species. It is a primary immunodeficiency disorder that is difficult to diagnose because of its heterogeneous clinical manifestations and genetic background. A 20-month-old boy who did not grow in height for 3 months was diagnosed as having hypothyroidism and he had hepatitis which was found at 5 years old. He presented with persistent oral thrush and vesicles on the body, the cause of which could not be identified from laboratory findings. No microorganism was detected in the throat culture; however, the oral thrush persisted. Immunological tests showed that immunoglobulin (Ig) subclass IgG and cluster of differentiation (CD)3, CD4, and CD8 levels were within normal limits. We prescribed oral levothyroxine and fluconazole mouth rinse. The patient was examined using diagnostic exome sequencing at the age of 6 years, and a c.1162A>G (p.K388E) STAT1 gene mutation was identified. A diagnosis of CMC based on the STAT1 gene mutation was, thus, made. At the age of 8 years, the boy developed a malar-like rash on his face. We conducted tests for detection of antinuclear antibodies and anti-dsDNA antibodies, which showed positive results; therefore, systemic lupus erythematosus (SLE) was also suspected. Whole exome sequencing is important to diagnose rare diseases in children. A STAT1 gene mutation should be suspected in patients with chronic fungal infections with a thyroid disease and/or SLE.

• 대한영상의학회지
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• 제82권5호
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• pp.1281-1286
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• 2021

척추기저동맥의 혈류공급감소로 인한 뇌간 경색은 매우 드문 전신성 루푸스 환자의 초기 증상으로, 경색의 직접적인 원인으로 매우 작은 기저동맥 분지인 교뇌공급혈관의 박리성 동맥류는 보고된 사례가 없다. 이에 저자들은 디지털감산 혈관조영술과 고해상도 혈관벽 자기공명영상를 이용하여 작은 교뇌공급혈관의 박리성 동맥류의 진단과 추적관찰 중 치유된 20세 여성의 사례를 보고하고자 한다. 전신성 루푸스의 진단은 신경학적장애의 유무와 혈액화학검사 결과를 바탕으로 하였다. 추적 고해상도 혈관벽 자기공명영상에서 환자의 교뇌천공지의 박리성동맥류는 폐색되어 있었고 우측 척추동맥의 박리성동맥류는 치유되어 보이지 않았다. 환자는 퇴원 시 수정랭킨척도 점수가 1점으로 증상 개선을 보였으며 3개월과 12개월 추적관찰에서도 증상이 악화되지 않고 1점을 유지하였다.