• Journal of Life Science
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• v.29 no.7
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• pp.800-808
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• 2019

Charcot-Marie-Tooth disease (CMT) is a group of rare peripheral neuropathies characterized by progressive muscle weakness and atrophy and areflexia in the upper and lower extremities. The most common subtype of CMT is CMT1A, which is caused by a tandem duplication of the PMP22 gene in the 17p12 region. Patients with CMT1A show a loose genotype-phenotype correlation, which suggests the existence of secondary genetic or association factors. Recently, polymorphisms of rs71428439 (n.83A>G) and rs2292832 (n.86T>C) in the MIR149 have been reported to be associated with late onset and mild phenotypic CMT1A severity. The aim of this study was to examine the intrafamilial heterogeneities of clinical phenotypes according to the genotypes of these two SNPs in MIR149. For this study, we selected 6 large CMT1A families who showed a wide range of phenotypic variation. This study suggested that both SNPs were related to the onset age and severity in the dominant model. In particular, the AG+GG (n.83A>G) and TC+CC genotypes (n.86T>C) were associated to late onset and mild symptoms. Motor nerve conduction velocity (MNCV) was not related to the MIR149 genotypes. These results were consistent with the previous studies. Therefore, we suggest that the rs71428439 and rs2292832 variants in MIR149 may serve as genetic modifiers of CMT1A intrafamilial phenotypic heterogeneity, as they have a role in the unrelated patients. This is the first study to show an association using large families with variable clinical CMT1A phenotypes. The results will be helpful in the molecular diagnosis and treatment of patients with CMT1A.

• Journal of the Korean Orthopaedic Association
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• v.55 no.5
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• pp.383-396
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• 2020

Purpose: This study compared the injury mechanism, site, type, initial management approach of orthopedic injury, and outcomes according to the injury severity in moderate-to-severe injured patients. Materials and Methods: During 57-month, excluding the period when the authors' emergency/trauma center was not operating, from 2014 to 2019, a retrospective study was conducted on 778 patients with orthopedic injuries among patients with an Injury Severity Score (ISS)>9 scored. The patients were classified into moderate-injured group (group-1, 679) and severe-injured group (group-2, 99) according to the injury severity based on the ISS and physiologic parameters. The injury mechanism and non-orthopedic injury were evaluated. Orthopedic injuries were assessed according to the injury pattern and the number of anatomical regions and bone sites involved. The management approach for the orthopedic injuries in two groups was compared. Outcomes (hospital stay, systemic complications, and in-hospital mortality) were evaluated, and the risk factors for mortality were analyzed. Results: In group-2, the incidence of younger males, high-energy mechanisms, and accompanying injuries was significantly higher than in group-1. The number of anatomical regions and bone sites involved increased in group-2. The involvement of the pelvis, spine, and upper extremity was significantly higher in group-2, whereas group-1 was involved mainly by the lower extremities. Depending on the patient's condition, definitive or staged management for orthopedic injuries may be used. Group-1 was treated mainly with definite fixation after the physiological stabilization process, and group-2 was treated with staged management using temporary external fixation. The hospital stay was significantly longer in group-2. The overall systematic complications and in-hospital mortality was approximately 4.9% and 4.5%. A higher injury severity was associated with higher in-hospital mortality (2.9%, 15.2%; p<0.0001). Increasing age and high ISS are independent risk factors for mortality. Conclusion: A higher severity of injury was associated with a higher incidence of high-energy mechanism, younger, male, accompanying injuries, and the frequency and severity of orthopedic injuries. Severe polytrauma patients were treated mainly with a staged approach, such as external fixation. The hospital stay, systematic complications, and in-hospital mortality were significantly higher in severe-injured patients. Age and ISS are strong predictors of in-hospital mortality in polytrauma.

• Tuberculosis and Respiratory Diseases
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• v.46 no.1
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• pp.53-64
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• 1999

Background : Massive and untreated hemoptysis is associated with a mortality of greater than 50 percent. Since the bleeding is from a bronchial arterial source in the vast majority of patients, embolization of the bronchial arteries(BAE) has become an accepted treatment in the management of massive hemoptysis because it achieves immediate control of bleeding in 75 to 90 percent of the patients. Methods: Between 1990 and 1996, we treated 146 patients with hemoptysis by bronchial artery embolization. Catheters(4, 5, or 7F) and gelfoam, ivalon, and/or microcoil were used for embolization. Results: Pulmonary tuberculosis and related disorders were the most common underlying disease of hemoptysis(72.6%). Immediate success rate to control bleeding within 24hours was 95%, and recurrence rate was 24.7%. The recurrence rate occured within 6 months after embolization was 63.9%. Initial angiographic findings such as bilaterality, systemic-pulmonary artery shunt, neovascularity, aneurysm were not statistically correlated with rebleeding tendency(P>0.05). Among Initial radiographic findings, only pleural lesions were significantly correlated with rebleeding tendency(P<0.05). At additional bronchial artery angiograpy done due to rebleeding, recanalization of previous embolized arteries were 63.9%, and the presence of new feeding arteries were 16.7%, and 19.4% of patients with rebleeding showed both The complications such as fever, chest pain, headache, nausea and vomiting, arrhythmia, paralylytic ileus, transient sensory loss (lower extremities), hypotension, urination difficulty were noticed at 40 patients(27.4%). Conclusion: We conclude that bronchial artery embolization is relatively safe method achieving immediate control of massive hemoptysis. At initial angiographic findings, we could not find any predictive factors for subsequent rebleeding. It may warrant further study whether patients with pleural disease have definetely increased rebleeding tendency.