Journal of Korean medical science
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J. Korean Med. Sci. · Nov 2017
Case ReportsA Mild Form of COG5 Defect Showing Early-Childhood-Onset Friedreich's-Ataxia-Like Phenotypes with Isolated Cerebellar Atrophy.
Progressive cerebellar ataxias are rare diseases during childhood, especially under 6 years of age. In a single family, three affected siblings exhibited Friedreich's-ataxia-like phenotypes before 2 years of age. They had progressive cerebellar atrophy, intellectual disability, and scoliosis. ⋯ The heterozygous deletion at the fifth base in exon 12 of COG5 caused a frameshift and premature stop. Western blotting of COG5 proteins in the skin tissues from an affected proband showed a significantly decreased level of full length COG5 and smaller, aberrant COG5 proteins. We reported a milder form of COG5 defect showing Friedreich's-ataxia-like phenotypes without hypotonia, microcephaly, and short stature that were observed in most patients with COG5 defect.
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J. Korean Med. Sci. · Nov 2017
Prevalence and Clinical Characteristics of Metabolically Healthy Obesity in Korean Children and Adolescents: Data from the Korea National Health and Nutrition Examination Survey.
Metabolically healthy obesity (MHO) and metabolically unhealthy obesity (MUO) are differentiated by the presence of cardiometabolic risk factors (CMRFs) and insulin resistance (IR). This study aimed to evaluate the prevalence and clinical characteristics of MHO in Korean children and adolescents and to investigate the anthropometric, laboratory, and lifestyle predictors of MHO. This study included data from 530 obese subjects, aged 10-19 years, obtained from the Fourth Korea National Health and Nutrition Examination Survey. ⋯ The prevalence of MHO differed depending on how it was defined. To adequately manage obesity in youth, the approach to individuals with MHO and MUO should be personalized due to variation in clinical characteristics. Longitudinal studies are needed to evaluate long-term consequences of MHO.
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J. Korean Med. Sci. · Nov 2017
Validity of the Korean Version of the Face, Legs, Activity, Cry, and Consolability Scale for Assessment of Pain in Dementia Patients.
Pain is often associated with a more rapid progression of cognitive and functional decline, and behavioral disturbance in dementia. Therefore, it is essential to accurately assesses pain for proper intervention in patients with dementia. The Face, Legs, Activity, Cry, and Consolability (FLACC) scale is an excellent behaviour scale which includes most of the domains that are recommended by the American Geriatrics Society to evaluate when assessing pain in patients with dementia. ⋯ All of the five domains of the K-FLACC were related to the NRS and FPS, in which the activity domain showed the highest correlation. Test-retest reliability was excellent, as the intra-class correlation coefficient comparing the retest to test was 0.73 (95% confidence interval, 0.59-0.82). Our results show that the K-FLACC is a suitable and valuable scale to assess pain in patients with dementia in Korea.
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Lung squamous cell cancer (SCC) is typically found in smokers and has a very low incidence in non-smokers, indicating differences in the tumor biology of lung SCC in smokers and non-smokers. However, the specific mutations that drive tumor growth in non-smokers have not been identified. To identify mutations in lung SCC of non-smokers, we performed a genetic analysis using arrays comparative genomic hybridization (ArrayCGH). ⋯ Immunohistochemical analyses showed that GAB2 protein was relatively upregulated in non-smoker than smoker tissues (37.5% vs. 9.0%, P = 0.007). GAB2 amplification may have an important role in the development of lung SCC in non-smokers. GAB2 may represent a potential biomarker for lung SCC in non-smokers.
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J. Korean Med. Sci. · Nov 2017
Case ReportsA Case Report of Primary Pericardial Malignant Mesothelioma Treated with Pemetrexed and Cisplatin.
Primary pericardial malignant mesothelioma (PPM) is a very rare malignancy, with an incidence of less than 0.002% and represents less than 5% of all mesotheliomas. The cause of pericardial mesothelioma is uncertain that differ from pleural mesothelioma which is associated with asbestos exposure. This malignancy is terribly aggressive and has very poor prognosis with less than six months of overall survival. ⋯ During two years she was alive without disease progression. To better understand the clinical, pathologic features and treatment outcome of this entity, we reviewed 23 cases described in the English literature from 2009, together with our case, provided a total of 24 cases. Based on this review, we suggest that PPM must be considered in patients who have unexplained massive pericardial effusion and recommend chemotherapy with pemetrexed and cisplatin for the better outcome of PPM.