• Clinical and Experimental Pediatrics
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• 제50권10호
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• pp.1018-1023
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• 2007

유전성 출혈성 모세혈관 확장증은 피부 점막 모세혈관확장증, 동정맥기형, 가족력을 3대 증상으로 하는 상염색체 우성 유전성 질환이다. 빈번한 코피가 가장 흔한 증상이며 폐, 뇌, 간 등에 동정맥기형이 동반될 수 있다. 저자들은 빈번한 코피, 폐와 뇌동정맥기형, 가족력을 가진 유전성 출혈성 모세혈관확장증 1례를 경험하고 이를 보고하는 바이다.

• 한국환경성돌연변이발암원학회지
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• 제22권1호
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• pp.54-59
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• 2002

We have used cDNA microarray hybridization to identify gene regulated in response to gamma-irradiation in U-937 cell. The cDNA-chip was composed entirely of 1,000 human cancer related gene including apoptosis and angiogenesis etc. In gamma-irradiated U-937 cell, highly charged protein, ribosomal protein L32, four and a half LIM domains 3, lipocalin 2 (oncogene 24p3) and interleukin 15, ataxia telangiectasia mutated (includes complementation groups A, C and D) genes showed increased level of its transcription, and cell division cycle 25A, dihydrofolate reductase, topoisomerase (DNA) II beta(180kD), kinase suppressor of ras and strarigin genes showed reduced level of its transcription compared to untreated U-937 cell. The significant change of level of transcription was not found in well-known ionizing radiation(IR)-responsive gene, such as transcription factor TP53 and p53 related gene, except ataxia telangiectasia mutated gene.

• Biomolecules & Therapeutics
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• 제31권5호
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• pp.559-565
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• 2023

Ataxia-telangiectasia mutated (ATM), a master kinase of the DNA damage response (DDR), phosphorylates a multitude of substrates to activate signaling pathways after DNA double-strand breaks (DSBs). ATM inhibitors have been evaluated as anticancer drugs to potentiate the cytotoxicity of DNA damage-based cancer therapy. ATM is also involved in autophagy, a conserved cellular process that maintains homeostasis by degrading unnecessary proteins and dysfunctional organelles. In this study, we report that ATM inhibitors (KU-55933 and KU-60019) provoked accumulation of autophagosomes and p62 and restrained autolysosome formation. Under autophagy-inducing conditions, the ATM inhibitors caused excessive autophagosome accumulation and cell death. This new function of ATM in autophagy was also observed in numerous cell lines. Repression of ATM expression using an siRNA inhibited autophagic flux at the autolysosome formation step and induced cell death under autophagy-inducing conditions. Taken together, our results suggest that ATM is involved in autolysosome formation and that the use of ATM inhibitors in cancer therapy may be expanded.

• Journal of Oral Medicine and Pain
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• 제37권3호
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• pp.135-139
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• 2012

유전성출혈모세혈관확장증은 피부 및 점막에 있는 말단 혈관이 비정상적으로 확장된 모세혈관 확장증과 내부 장기, 특히 폐, 뇌, 간 부위의 동정맥기형 발생을 특징으로 하는 상염색체 우성 유전질환이다. 이 질병을 가진 환자들은 종종 오랜 시간 동안 진단이 되지 않은 채로 지내다가 생명을 위협할 수 있는 심각한 출혈, 뇌졸중, 뇌농양과 같은 합병증이 발생하기도 한다. 따라서 이 질환의 조기 진단 및 적절한 선별검사가 매우 중요하다. 유전성출혈모세혈관확장증의 조기 진단을 통해 증상 없이 존재하다 합병증을 유발할 수 있는 폐, 간, 뇌 부위의 동정맥기형에 대한 선별 검사를 시행함으로써 이 질병에 이환된 환자와 가족에 대한 예방적 관리가 가능하다. 피부 및 점막에 발생하는 모세혈관확장증은 특징적인 소견을 보이며 치과의사에 의해 쉽게 발견되므로 치과의사는 유전성출혈모세혈관확장증에 대해 잘 알고 조기 진단에 기여할 필요가 있다. 최근 이 질환으로 진단된 증례가 있어 문헌 고찰과 함께 보고하고자 한다.

• Archives of Pharmacal Research
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• 제21권6호
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• pp.640-644
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• 1998

AT cells exhibit defective cell cycle regulation following DNA damage. Previous studies have shown that induction of p53 and p2i proteins are delayed in response to ionizing rad iation, resulting in the failure of G1/S checkpoint in AT cells. In this study, further investigation of the molecular mechanisms underlying G1/S phase progression in AT cells was conducted. Exponentially growing normal and AT cells were exposed to 2 Gly of ionizing radiation and the expression levels and functional activities of Rb and E2F-1 proteins were determined. We observed overexpression of hyperphosphorylated Rb and E2F-1 proteins in AT cells, which was unaffected post-irradiation. Furthermore, gel shift assays showed that E2F-1-DNA binding was constitutive in AT cells, whereas it was inhibited in control cells following exposure to ionizing radiation. The data suggests that abnormalities in the function of Rb and E2F-1 proteins may also be responsible for the failure of AT cells to arrest in the G1/S checkpoint in response to DNA damage.

• Tuberculosis and Respiratory Diseases
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• 제44권4호
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• pp.914-921
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• 1997

저자들은 최근 가족력은 없지만 폐동정맥루와 간동맥혈관 조영술 및 위점막에서 관찰된 혈관기형을 동반한 Osler-Rendu-Weber 증후군 1예에서 폐동정맥루에 대해 금속코일을 이용한 색전요법을 시행하여 특별한 합병증 없이 증상의 개선을 경험하였기에 문헌 고찰과 함께 보고하는 바이다.

• Journal of Korean Neurosurgical Society
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• 제67권3호
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• pp.270-279
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• 2024

Prompt medical attention is crucial for congenital intracranial vascular malformations in children and newborns due to potential severe outcomes. Imaging is pivotal for accurate identification, given the diverse risks and treatment strategies. This article aims to enhance the identification and understanding of congenital intracranial vascular abnormalities including arteriovenous malformation, arteriovenous fistula, cavernous malformation, capillary telangiectasia, developmental venous anomaly, and sinus pericranii in pediatric patients.

• Radiation Oncology Journal
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• 제31권2호
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• pp.81-87
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• 2013

Purpose: To describe chronic rectal mucosal damage after pelvic radiotherapy (RT) for cervical cancer and correlate these findings with clinical symptoms and radiation dose. Materials and Methods: Thirty-two patients who underwent pelvic RT were diagnosed with radiation-induced proctitis based on endoscopy findings. The median follow-up period was 35 months after external beam radiotherapy (EBRT) and intracavitary radiotherapy (ICR). The Vienna Rectoscopy Score (VRS) was used to describe the endoscopic findings and compared to the European Organization for Research and Treatment of Cancer (EORTC)/Radiation Therapy Oncology Group (RTOG) morbidity score and the dosimetric parameters of RT (the ratio of rectal dose calculated at the rectal point [RP] to the prescribed dose, biologically effective dose [BED] at the RP in the ICR and EBRT plans, ${\alpha}/{\beta}$ = 3). Results: Rectal symptoms were noted in 28 patients (rectal bleeding in 21 patients, bowel habit changes in 6, mucosal stools in 1), and 4 patients had no symptoms. Endoscopic findings included telangiectasia in 18 patients, congested mucosa in 20, ulceration in 5, and stricture in 1. The RP ratio, $BED_{ICR}$, $BED_{ICR+EBRT}$ was significantly associated with the VRS (RP ratio, median 76.5%; $BED_{ICR}$, median 37.1 $Gy_3$; $BED_{ICR+EBRT}$, median 102.5 $Gy_3$; p < 0.001). The VRS was significantly associated with the EORTC/RTOG score (p = 0.038). Conclusion: The most prevalent endoscopic findings of RT-induced proctitis were telangiectasia and congested mucosa. The VRS was significantly associated with the EORTC/RTOG score and RP radiation dose.

• Tuberculosis and Respiratory Diseases
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• 제45권3호
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• pp.649-653
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• 1998

폐동정맥루를 보이는 환자의 40~60%에서 유전성 출혈성모세혈관확장증이 동반되어 나타나고, 유전성 출혈성 모세혈관 확장증 환자의 약 15% 정도에서 폐동정맥루가 관찰되므로 폐동정맥루 환자에서는 가족력에 대한 조사가 필요하다. 국내에서 폐동정맥루에 대한 보고는 상당수 있어 왔으나 가족력의 동반을 보고한 예는 없었다. 저자들은 객혈을 주소로 입원하여 폐동정맥루로 진단받고 wire coil spring을 이용하여 색전술을 시행한 23세 여자 환자 1예와 그 가족력을 소개하여 보고하는 바이다.

• BMB Reports
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• 제44권5호
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• pp.352-357
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• 2011

The effect of human MutY homolog (hMYH) on the activation of checkpoint proteins in response to hydroxyurea (HU) and ultraviolet (UV) treatment was investigated in hMYH-disrupted HEK293 cells. hMYH-disrupted cells decreased the phosphorylation of Chk1 upon HU or UV treatment and increased the phosphorylation of Cdk2 and the amount of Cdc25A, but not Cdc25C. In siMYH-transfected cells, the increased rate of phosphorylated Chk1 upon HU or UV treatment was lower than that in siGFP-transfected cells, meaning that hMYH was involved in the activation mechanism of Chk1 upon DNA damage. The phosphorylation of ataxia telangiectasia and Rad3-related protein (ATR) upon HU or UV treatment was decreased in hMYH-disrupted HEK293 and HaCaT cells. Co-immunoprecipitation experiments showed that hMYH was immunoprecipitated by anti-ATR. These results suggest that hMYH may interact with ATR and function as a mediator of Chk1 phosphorylation in response to DNA damage.