• Journal of Genetic Medicine
• /
• 제15권2호
• /
• pp.107-109
• /
• 2018

X-linked Charcot-Marie-Tooth disease type 1 (CMTX1) is caused by the mutation in GJB1 gene, characterized by the transient central nervous system involvement and long standing peripheral polyneuropathy which does not fulfill the criteria of demyelination or axonopathy. We describe a 37-year-old man with progressive bilateral leg weakness since his early teen. He suffered transient right hemiparesis, followed by quadriparesis at 14 years of age. When we examined him at 37 years of age, he presented a distal muscle weakness on lower extremities with a sensory symptom. The nerve conduction study demonstrated a motor conduction velocity between 26 and 49 m/s. The whole exome sequencing revealed a novel variant c.136 G>A in GJB1. This report will raise awareness in this rare disease, which is frequently misdiagnosed early in its course.

• Genomics & Informatics
• /
• 제17권1호
• /
• pp.2.1-2.12
• /
• 2019

Chronic obstructive pulmonary disease (COPD) is a type of progressive lung disease, featured by airflow obstruction. Recently, a comprehensive analysis of the transcriptome in lung tissue of COPD patients was performed, but the heterogeneity of the sample was not seriously considered in characterizing the mechanistic dysregulation of COPD. Here, we established a new transcriptome analysis pipeline using a deconvolution process to reduce the heterogeneity and clearly identified that these transcriptome data originated from the mild or moderate stage of COPD patients. Differentially expressed or co-expressed genes in the protein interaction subnetworks were linked with mitochondrial dysfunction and the immune response, as expected. Computational protein localization prediction revealed that 19 proteins showing changes in subcellular localization were mostly related to mitochondria, suggesting that mislocalization of mitochondria-targeting proteins plays an important role in COPD pathology. Our extensive evaluation of COPD transcriptome data could provide guidelines for analyzing heterogeneous gene expression profiles and classifying potential candidate genes that are responsible for the pathogenesis of COPD.

• Journal of Chest Surgery
• /
• 제54권2호
• /
• pp.150-153
• /
• 2021

Moyamoya disease (MMD) is characterized by progressive steno-occlusive lesions of the distal or proximal branch of the internal carotid arteries, and cerebrovascular symptoms are its major complications. Extracranial vascular involvement including the coronary artery has been reported, and some case reports have described variant angina or myocardial infarction. However, no report has yet described a case of myocardial infarction after coronary artery bypass grafting (CABG). Here, we present a patient with MMD who suffered cardiac arrest caused by myocardial infarction due to a coronary spasm after offpump CABG and who was discharged successfully after treatment with a veno-arterial extracorporeal membrane oxygenator and percutaneous coronary intervention.

• Childhood Kidney Diseases
• /
• 제27권2호
• /
• pp.76-81
• /
• 2023

Tolvaptan is a highly selective vasopressin receptor 2 antagonist that regulates cyclic adenosine monophosphate levels to inhibit both epithelial cell proliferation and chloride ion excretion, two mechanisms known to induce cyst expansion in autosomal dominant polycystic kidney disease (ADPKD). Tolvaptan is currently the preferred treatment of rapidly progressive disease ADPKD in adult patients; however, since cyst formation in ADPKD begins early in life, (frequently in utero), and significant disease progression with cyst expansion occurs in the first decade, tolvaptan may be advantageous as a preemptive treatment in children with ADPKD. Tolvaptan has already been used to successfully treat refractory edema or hyponatremia in children; this literature review provides insight into the biochemical basis of its action to contextualize its use in the pediatric population.

• 한국운동역학회지
• /
• 제14권3호
• /
• pp.271-284
• /
• 2004

The purpose of this study was to analyse the EMG activity of selected muscles with balance taping treatment and blood fatigue makers which accumulated during exercise of progressive maximal intensity. Ten male college students who did not experience any cardiovascular and musculo-skeletal disease were participated in this study. Balance taping were applied to rectus femoris, vastus medialis, vastus lateralis, biceps femoris, semitendinous, semimembranous, and around knee joint. Isokinetic knee joint flexion/extension force, EMG activity, lactate and ammonia as blood fatigue makers during progressive maximal intensity exercise were measured for with/without applying balance taping. The results indicated that although flexion force of total work at $60^{\circ}/sec$ with taping was increased applied taping did not affect to the aerobic exercise ability parameters. Lactate level as blood fatigue makers during progressive maximal intensity exercise after taping was decreased but the ammonia level did not change with same treatment. In isokinetic knee joint test at the angular velocity of $60^{\circ}/sec$, $180^{\circ}/sec$, and $240^{\circ}/sec$ the taping treatment did not affect to any selected muscle EMG activities except maximal EMG of vastus lateralis at $240^{\circ}/sec$.

• 대한구순구개열학회지
• /
• 제15권1호
• /
• pp.1-10
• /
• 2012

Parry-Romberg syndrome(PRS) is a degenerative disease characterized by progressive hemifacial atrophy. A 10-year-old girl who had been treated for linear scleroderma at the dermatologic department visited the orthodontic department. The frontal facial photograph showed mild facial asymmetry. On the left side, mild atrophy of soft tissue, enophthalmos, cheek depression, and dry skin with dark pigmentation were observed. The radiograph showed the hypoplasia of both the maxilla and mandible on the left side. This case report describes the treatment of a patient with PRS for 7 years. To minimize the effect of progressive atrophy on the facial growth, a hybrid appliance was used. The facial photos and radiographic records were periodically taken to analyze the progression of PRS. Although it is impossible to prevent the progression of facial asymmetry, it appears to be possible to limit the atrophic effect. After the stabilization of PRS, the orthodontic treatment by the fixed appliance was performed. Additionally, autologous fat graft was performed three times at 6 month intervals. After the treatment, the patient had a confident smile and facial asymmetry was improved.

• 대한치과의사협회지
• /
• 제22권10호통권185호
• /
• pp.865-868
• /
• 1984

Three Korean rapidly progressive periodontitis patient (R.P.P.) were examined for the isolation and identification of black-pigmented Bacteroides and Bacteroides gingivalis in the subgingival plaque. Black-pigmented Bacteroides and Bacteroides gingivalis were recovered from all three R.P. patients and the predominant isolates were Bacteroides intermedius followed by Bacteroides gingivalis. The B. gingivalis isolated from subgingival plaque of rapidly progressive periodontitis patients were Gram-negative pleomorphic rods and each produced brown to black colonies on blood agar plate supplemented with 5% rabbit 5ug/ml haemin, 0.5ug/ml of menadione and 40ug/ml of Kanamycin. The B. gingivalis isolated were fermented none of Glucose, Sucrose, Lactose, Esculin and Cellobinose and produced indole. Isolation and identification of Bacteroides gingivalis in Korean R.P. patients can be contributed to the research on the pathogenesis of Korean periodontal disease.

• 생물정신의학
• /
• 제23권3호
• /
• pp.69-79
• /
• 2016

Frontotemporal dementia (FTD) is a degenerative disease characterized by the selective frontal and temporal lobe atrophy, and progressive deficits in behavior, executive function, or language. The prevalence and incidence of FTD are 15-22/100000 and 2.7-4.1/100000, respectively, in midlife. Hereditary is an important risk factor for FTD. Although there is some controversy regarding the further syndromatic subdivision of the different types of FTD, FTD is clinically classified into behavioral variant of frontotemporal dementia, semantic dementia and progressive nonfluent aphasia. FTD can be misdiagnosed as many psychiatric disorders because of similarity of the prominent behavioral features. Advances in clinical, imaging, and molecular characterization have increased the accuracy of FTD diagnosis, thus developing for the accurate differentiation of these syndromes from psychiatric disorders. We also discuss about therapeutic strategies for symptom management of FTD. Medications such as serotonin reuptake inhibitors, antipsychotics, and other novel treatments have been used in FTD with various rates of success. Further advanced research should be directed at understanding and developing new diagnostic and therapeutic modalities to improve the FTD patients' prognosis and quality of life.

• Journal of Korean Neurosurgical Society
• /
• 제29권12호
• /
• pp.1682-1687
• /
• 2000

Progressive multifocal leukoencephalopathy(PML) is a fatal demyelinating disease that occurs in immunocompromised hosts. We report a case of PML that developed in patient with T cell lymphoma of head and neck. During chemotherapy for lymphoma, she was confused and had memory impairment. A magnetic resonance imaging of the brain revealed confluent signal change at white matter of the frontal lobe, insula, and anterior limb and genu of internal capsule. The lesion was confirmed with brain biopsy and the histopathological finding was compatible with PML.

• Pediatric Gastroenterology, Hepatology & Nutrition
• /
• 제16권2호
• /
• pp.123-126
• /
• 2013

$M\acute{e}n\acute{e}$trier's disease is a rare protein-losing gastropathy characterized by hypertrophic gastric fold, foveolar hyperplasia, and hypoproteinemia with resulting peripheral edema. It is clinically evident as nonspecific gastrointestinal symptoms, including abdominal discomfort, nausea and vomiting, abdominal pain, weight loss, diarrhea, and edema. Pediatric $M\acute{e}n\acute{e}$trier's disease usually has an insidious onset and progressive, chronic clinical course and it spontaneously resolves in weeks or months. The pathogenesis of $M\acute{e}n\acute{e}$trier's disease is not clearly understood. $M\acute{e}n\acute{e}$trier's disease is thought to be associated with some gastric infections. But the cause of $M\acute{e}n\acute{e}$trier's disease is unknown, an association with cytomegalovirus (CMV) and Helicobacter pylori has been suggested. In Korea, We present the first a case of pediatric $M\acute{e}n\acute{e}$trier's disease with positive evidence of CMV and H. pylori.