• 대한유전성대사질환학회지
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• 제14권1호
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• pp.54-59
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• 2014

부신백질형성장애는 성염색체-연관성 유전대사 질환으로 ABCD1 유전자의 돌연변이에 의해 발생한다. 이중 대뇌 부신백질형성장애는 부신백질형성장애의 한 표현형으로, 급격한 뇌백질의 탈수초화와 부신 기능 부전을 보인다. 9세 남아가 인지 및 신경 기능의 퇴행을 주소로 내원하여 시행한 혈청 내 매우 긴 사슬 지방산이 증가되어 있었고 뇌 MRI에서 특징적인 양쪽 두정-후두엽 백질의 대칭적 고신호강도 소견을 보였으며 ABCD1 유전자에 돌연변이 c. 1252C>T (p.Arg418 Trp)가 발견되어 이를 보고하는 바이다.

• Korean Journal of Radiology
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• 제24권7호
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• pp.626-639
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• 2023

Objective: To investigate the association of clinical, pathologic, and magnetic resonance imaging (MRI) variables with progressive disease (PD) during neoadjuvant chemotherapy (NAC) and distant metastasis-free survival (DMFS) in patients with triple-negative breast cancer (TNBC). Materials and Methods: This single-center retrospective study included 252 women with TNBC who underwent NAC between 2010 and 2019. Clinical, pathologic, and treatment data were collected. Two radiologists analyzed the pre-NAC MRI. After random allocation to the development and validation sets in a 2:1 ratio, we developed models to predict PD and DMFS using logistic regression and Cox proportional hazard regression, respectively, and validated them. Results: Among the 252 patients (age, 48.3 ± 10.7 years; 168 in the development set; 84 in the validation set), PD was occurred in 17 patients and 9 patients in the development and validation sets, respectively. In the clinical-pathologic-MRI model, the metaplastic histology (odds ratio [OR], 8.0; P = 0.032), Ki-67 index (OR, 1.02; P = 0.044), and subcutaneous edema (OR, 30.6; P = 0.004) were independently associated with PD in the development set. The clinical-pathologic-MRI model showed a higher area under the receiver-operating characteristic curve (AUC) than the clinical-pathologic model (AUC: 0.69 vs. 0.54; P = 0.017) for predicting PD in the validation set. Distant metastases occurred in 49 patients and 18 patients in the development and validation sets, respectively. Residual disease in both the breast and lymph nodes (hazard ratio [HR], 6.0; P = 0.005) and the presence of lymphovascular invasion (HR, 3.3; P < 0.001) were independently associated with DMFS. The model consisting of these pathologic variables showed a Harrell's C-index of 0.86 in the validation set. Conclusion: The clinical-pathologic-MRI model, which considered subcutaneous edema observed using MRI, performed better than the clinical-pathologic model for predicting PD. However, MRI did not independently contribute to the prediction of DMFS.

• Tuberculosis and Respiratory Diseases
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• 제74권2호
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• pp.51-55
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• 2013

Acute eosinophilic pneumonia is a severe and rapidly progressive lung disease that can cause fatal respiratory failure. Since this disease exhibits totally different clinical features to other eosinophilic lung diseases (ELD), it is not difficult to distinguish it among other ELDs. However, this can be similar to other diseases causing acute respiratory distress syndrome or severe community-acquired pneumonia, so the diagnosis can be delayed. The cause of this disease in the majority of patients is unknown, even though some cases may be caused by smoke, other patients inhaled dust or drugs. The diagnosis is established by bronchoalveolar lavage. Treatment with corticosteroids shows a rapid and dramatic positive response without recurrence.

• BMB Reports
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• 제49권12호
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• pp.662-670
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• 2016

The human oral cavity contains a highly personalized microbiome essential to maintaining health, but capable of causing oral and systemic diseases. Thus, an in-depth definition of "healthy oral microbiome" is critical to understanding variations in disease states from preclinical conditions, and disease onset through progressive states of disease. With rapid advances in DNA sequencing and analytical technologies, population-based studies have documented the range and diversity of both taxonomic compositions and functional potentials observed in the oral microbiome in healthy individuals. Besides factors specific to the host, such as age and race/ethnicity, environmental factors also appear to contribute to the variability of the healthy oral microbiome. Here, we review bioinformatic techniques for metagenomic datasets, including their strengths and limitations. In addition, we summarize the interpersonal and intrapersonal diversity of the oral microbiome, taking into consideration the recent large-scale and longitudinal studies, including the Human Microbiome Project.

• BMB Reports
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• 제43권10호
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• pp.649-655
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• 2010

Alzheimer's disease (AD) is the most common age-dependent neurodegenerative disorder and shows progressive memory loss and cognitive decline. Intraneuronal filaments composed of aggregated hyperphosphorylated tau protein, called neurofibrillary tangles, along with extracellular accumulations of amyloid $\beta$ protein (A$\beta$), called senile plaques, are known to be the neuropathological hallmarks of AD. In light of recent studies, epigenetic modification has emerged as one of the pathogenic mechanisms of AD. Epigenetic changes encompass an array of molecular modifications to both DNA and chromatin, including transcription factors and cofactors. In this review, we summarize how DNA methylation and changes to DNA chromatin packaging by post-translational histone modification are involved in AD. In addition, we describe the role of SIRTs, histone deacetylases, and the effect of SIRT-modulating drugs on AD. Lastly, we discuss how amyloid precursor protein (APP) intracellular domain (AICD) regulates neuronal transcription. Our understanding of the epigenomes and transcriptomes of AD may warrant future identification of novel biological markers and beneficial therapeutic targets for AD.

• 동의생리병리학회지
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• 제18권2호
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• pp.621-625
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• 2004

Bilateral striopallidodentate calcinosis, popularly referred to as Fahr's disease, is a disorder radiologically characterized by bilateral calcifications of the basal ganglia, thalami, dentate nuclei of the cerebellum, and the white matter of the cerebral hemisphere without serum calcium-phosphorus metabolism and related endocrinologic abnormalities. Intracranial calcifications are easily visible as high-density on CT. On magnetic resonance images, the calcifications exhibit different signal intensities. The differences in signal intensity are thought to be related to the stage of the disease, differences in calcium metabolism, and the volume of the calcium deposit. Based on literature review, I report the case of a 63 year man with bilateral symmetrical calcification in the basal ganglia, dentate nuclei of the cerebellum, and the white matter of the cerebral hemisphere who present a 5 year history of progressive dysarthria associated with left thalamic infarction.

• Journal of Chest Surgery
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• 제49권6호
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• pp.461-464
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• 2016

Coronary artery disease has historically been a contraindication to lung transplantation. We report a successful combined bilateral lung transplantation and off-pump coronary artery bypass in a 62-year-old man. The patient had a progressive decline in lung function due to idiopathic pulmonary fibrosis and a history of severe occlusive coronary artery disease.

• 혜화의학회지
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• 제8권2호
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• pp.153-170
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• 2000

This paper presents a study for a development of the oriental medical treatment on the gastric disease caused by Helicobacter Pylori. Helicobacter Pylori is observed in stomach mucosa and it is caused gastric disease via various routes. Helicobacter Pylori is spread generally mouth to mouth by men. So it is related to personal health condition or life style. The treatment of Helicobacter Pylori is an antibiotic combination therapies, but it caused a problem of side effect and drug resistant. In the oriental medical treatment, an immunopotentiation reduces an infective rate of Helicobacter Pylori and prevents a progressive gastric disease.

• Clinical and Experimental Pediatrics
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• 제49권8호
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• pp.830-832
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• 2006

Immune thrombocytopenic purpura(ITP) is an autoimmune disease characterized by increased peripheral platelet destruction due to antibody to platelet, which results in thrombocytopenia and cutaneous or mucosal bleeding. Bleeding generally occurs when platelet counts fall to less than $20,000/{\mu}L$. Children affected with ITP are usually healthy prior to the onset of the disease and typically present suddenly after a viral infection or insidiously with progressive petechiae, bruising, or purpura. In most cases the disease is self-limited; approximately 80% of children recover by 6 months after diagnosis, with or without treatment. Children with thrombocytopenia persisting for more than 6 months are defined as having chronic ITP. Clinical manifestations, diagnosis, laboratory findings, differential diagnosis and various treatment modalities are reviewed.

• Annals of Clinical Neurophysiology
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• 제7권1호
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• pp.37-42
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• 2005

Acute disseminated encephalomyelitis (ADEM) and acute hemorrhagic leukoencephalitis (Hurst's disease) are rare autoimmune demyelinating disorders, which show a monophasic illness with preceding infection. We report a 42-year-old woman presented with multiphasic and progressive neurologic deterioration without definite evidences of infection. She developed hypesthetic ataxia, followed by ipsilateral weakness after a weak, and finally encephalopathy after a month. In contrast to the first MRI showing a small longitudinal lesion, the next images revealed massive bilateral frontal lesions with hemorrhagic necrosis and biopsy unveiled inflammatory demyelination.