• 대한임상검사과학회지
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• 제51권4호
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• pp.436-443
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• 2019

라임병은 2010년 법정감염병 지정 이후 환자발생이 지속적으로 증가하고 있다. 첫 환자가 보고된 2011년부터 2018년 12월 31일까지 신고된 환자 119명의 신고 자료 및 역학조사서를 국내발생과 해외유입으로 구분하여 분석하였고, ArcGIS Pro를 이용하여 추정 감염 지역에 대한 공간분석을 하였다. 2011년부터 2018년 12월 31일까지 국내발생은 70명(58.8%) 해외유입은 49명(41.2%)이다. 환자 발생은 2017년에 31명(26.0%), 계절은 여름~가을(6~11월)이 91명(76.5%)으로 가장 많았다. 진단일_신고일은 국내발생이 2.8±14.7일, 해외유입이 1.4±4.5일로 차이를 보였고, 임상 증상 중 발열과 발진은 국내발생과 해외유입이 통계적으로 유의하였다(P<0.001). 임상 경과는 초기 국소성 감염 61명(52.1%), 초기 파종성 감염 43명(35.3%), 만성 감염 15명(12.6%)이었다. 국내 추정 감염 지역은 충남 12명(17.1%), 경기 12명(17.1%), 강원 8명(11.4%), 경남 7명(10.0%)으로 지역적인 차이를 보였고, 해외유입은 미국이 21명(42.9%), 유럽이 17명(34.7%)으로 가장 많았다. 라임병 환자는 2016~2018년이 환자수가 증가 하여 발생 지역이 확대된 것으로 추정된다. 해외유입도 증가하고 있어 환자 관리는 더욱 중요할 것으로 판단되며 전 연령에서 환자가 발생하고 있어 홍보 및 예방교육과 역학적 특성 파악은 꾸준히 실시되어야 할 것이다.

• Annals of Clinical Neurophysiology
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• 제8권2호
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• pp.203-205
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• 2006

There have been several reports about coexistence of myasthenia and other autoimmune disease. Psoriasis is a papulosquamous disease defined by erythematous plaques with a silvery scale and a T-cell-mediated autoimmune disease. We report a case of a 49-year-old man with generalized myasthenia gravis (MG) superimposed by psoriasis. MG was diagnosed by clinical symptoms, increased acetylcholine receptor antibody titer and repetitive nerve stimulation test. Psoriasis was diagnosed by clinical manifestations and specific skin biopsy findings. MG and psoriasis are both autoimmune diseases. The coexistence of MG and psoriasis suggest a close connection of pathogenesis.

• 대한핵의학회지
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• 제39권2호
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• pp.124-132
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• 2005

Cardiac PET emerged as a powerful tool that allowed in vivo quantification of physiologic processes including myocardial perfusion and metabolism, as well as neuronal and receptor function for more than 25 years. Wow PET imaging has been playing an important role in the clinical evaluation of patients with known or suspected ischemic heart disease. This important clinical role is expected to grow with the availability of PET/CT scanner that allow a true integration of structure and function. The objective of this review is to provide an update on the current and future role of PET in clinical cardiology with a special eye on the great opportunities now offered by PET/CT.

• Journal of Interdisciplinary Genomics
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• 제1권2호
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• pp.15-18
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• 2019

Gaucher disease (GD) is an autosomal recessive inborn error of metabolism resulting from a deficiency in ${\beta}$-glucocerebrosidase (GBA) activity that leads to the accumulation of glucocerebroside in macrophages in multiple organs, such as the bone marrow, liver, spleen, and brain. GD can be classified into three clinical types: type 1 (non-neuropathic form, OMIM #230800); type II (acute neuropathic form, OMIM #230900); and type III (chronic neuropathic form, OMIM #231000). Type III is the subacute form of neuropathic GD. The best available treatment for GD is long-term enzyme (imiglucerase) replacement therapy (ERT) performed every two weeks. This report describes the long-term clinical course of a patient with type III GD who was treated with ERT for 18 years.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• 제24권1호
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• pp.1-6
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• 2021

Next-generation sequencing (NGS) technologies have changed the process of genetic diagnosis from a gene-by-gene approach to syndrome-based diagnostic gene panel sequencing (DPS), diagnostic exome sequencing (DES), and diagnostic genome sequencing (DGS). A priori information on the causative genes that might underlie a genetic condition is a prerequisite for genetic diagnosis before conducting clinical NGS tests. Theoretically, DPS, DES, and DGS do not require any information on specific candidate genes. Therefore, clinical NGS tests sometimes detect disease-related pathogenic variants in genes underlying different conditions from the initial diagnosis. These clinical NGS tests are expensive, but they can be a cost-effective approach for the rapid diagnosis of rare disorders with genetic heterogeneity, such as the glycogen storage disease, familial intrahepatic cholestasis, lysosomal storage disease, and primary immunodeficiency. In addition, DES or DGS may find novel genes that that were previously not linked to human diseases.

• Korean Journal of Radiology
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• 제22권11호
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• pp.1749-1763
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• 2021

Coronary computed tomography angiography (CCTA) is routinely used for anatomical assessment of coronary artery disease (CAD). However, invasive measurement of fractional flow reserve (FFR) is the current gold standard for the diagnosis of hemodynamically significant CAD. CT-derived FFRCT and CT perfusion are two emerging techniques that can provide a functional assessment of CAD for risk stratification and clinical decision making. Several clinical studies have shown that the diagnostic performance of concomitant CCTA and functional CT assessment for detecting hemodynamically significant CAD is at least non-inferior to that of other routinely used imaging modalities. This article aims to review the current clinical evidence and recent developments in functional CT techniques.

• 감성과학
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• 제10권2호
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• pp.147-154
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• 2007

심장의 활동을 기록한 심전도는 심장의 상태에 대한 가치 있는 임상 정보를 제공한다. 지금까지 심전도를 이용한 심장 질환 진단 알고리즘에 대한 많은 연구가 진행되어 왔으나, 심장 질환에 대한 국내 진단 결과의 부정확성 때문에 외국의 진단 알고리즘을 사용하고 있다. 이 논문에서는 원시 심전도 데이터로부터 심장 질환 진단의 파라미터인 ST-segment 추출 방법을 제안한다. ST-segment는 관상동맥 질환 예측에 활용되므로 데이터마이닝의 분류기법을 적용하여 질환을 예측한다. 또한 연관규칙 마이닝을 통해 환자들의 임상 데이터로부터 심장 질환자들의 임상적 특징을 예측한다.

• Journal of Genetic Medicine
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• 제10권2호
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• pp.88-93
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• 2013

Alexander disease (ALXD) is a rare demyelinating disease of the white matter of the brain that is caused by a mutation in the glial fibrillary acidic protein (GFAP) gene. The overexpression of GFAP in astrocytes induces a failure in the developmental growth of the myelin sheath. The neurodegenerative destruction of the myelin sheath of the white matter is accompanied by an accumulation of abnormal deposits of Rosenthal fibers in astrocytes, which is the hallmark of ALXD. The disease can be divided into four groups based on the onset age of the patients: neonatal, infantile, juvenile, or adult. Early-onset disease is more severe, progresses rapidly, and results in a shorter life span than late-onset cases. Magnetic resonance imaging and genetic tests are mostly used for diagnostic purposes. Pathological tests of brain tissue for Rosenthal fibers are definitive diagnostic methods. Therapeutic strategies are being investigated. Ceftriaxone, which is an enhancer of glial glutamate transporter (GLT-1) expression, is currently in clinical trials for the treatment of patients with ALXD. To date, there are no clinically available treatments. The cause, pathology, pathophysiology, inheritance, clinical features, diagnosis, and treatment of ALXD will be reviewed comprehensively.

• Journal of Preventive Medicine and Public Health
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• 제42권6호
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• pp.349-355
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• 2009

Biomarkers are characteristic biological properties that can be detected and measured in a variety of biological matrices in the human body, including the blood and tissue, to give an indication of whether there is a threat of disease, if a disease already exists, or how such a disease may develop in an individual case. Along the continuum from exposure to clinical disease and progression, exposure, internal dose, biologically effective dose, early biological effect, altered structure and/or function, clinical disease, and disease progression can potentially be observed and quantified using biomarkers. While the traditional discovery of biomarkers has been a slow process, the advent of molecular and genomic medicine has resulted in explosive growth in the discovery of new biomarkers. In this review, issues in evaluating biomarkers will be discussed and the biomarkers of environmental exposure, early biologic effect, and susceptibility identified and validated in epidemiological studies will be summarized. The spectrum of genomic approaches currently used to identify and apply biomarkers and strategies to validate genomic biomarkers will also be discussed.

• 한국임상수의학회지
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• 제38권3호
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• pp.115-119
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• 2021

This study was designed to investigate the characteristics of corneal ulcers in dogs with chronic kidney disease (CKD). Medical records of dogs that had been diagnosed with corneal ulcers and chronic kidney disease at Haemaru Referral Animal Hospital between April 1, 2011 and March 31, 2016 were investigated. A control group was randomly selected during the same time period. This group included patients with corneal ulcers but no evidence of systemic disease. The mean healing time of superficial corneal ulcers in the CKD group was 21.0 ± 15.0 days. This was a significantly longer healing time than was observed in the control group (11.0 ± 6.6 days, p = 0.019). The incidence rates of uveitis and keratoconjunctivitis sicca in the CKD group were significantly higher than in the control group (p = 0.000 and p = 0.026, respectively). Additionally, non-healing ulcers had significantly elevated white blood cell counts, while those with healing ulcers had WBC counts within the normal range in CKD group (p = 0.000). This study revealed that corneal ulcers in CKD patients would be delayed epithelial healing process and accompanied by ocular disease which affected to corneal healing compared to non-CKD patients.