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Purpose@#The purpose of this study was to investigate the concordance rate of PIK3CA mutations between primary and matched distant metastatic sites in patients with breast cancer and to verify whether there are differences in the frequency of PIK3CA hotspot mutations depending on the metastatic sites involved. @*Materials and Methods@#Archived formalin-fixed paraffin-embedded (FFPE) specimens of primary breast and matched distant metastatic tumors were retrospectively obtained for 49 patients. Additionally, 40 archived FFPE specimens were independently collected from different breast cancer metastatic sites, which were limited to three common sites: the liver, brain, and lung. PIK3CA mutations were analyzed using droplet digital PCR, including hotspots involving exons 9 and 20. @*Results@#After analysis of 49 breast tumors with matched metastasis sites, 87.8% showed concordance in PIK3CA mutation status. According to PIK3CA hotspot mutation testing in 89 cases of breast cancer metastatic sites, the proportion of PIK3CA mutations at sites of metastasis involving the liver, brain, and lung was 37.5%, 28.6%, and 42.9%, respectively, which did not result in statistical significance. @*Conclusion@#The high concordance of PIK3CA mutation status between primary and matched metastasis sites suggests that metastatic sites, regardless of the metastatic organ, could be considered sample sources for PIK3CA mutation testing for improved therapeutic strategies in patients with metastatic breast cancer.
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Background@#Texture analysis may capture subtle changes in the gray matter more sensitively than volumetric analysis. We aimed to investigate the patterns of neurodegeneration in semantic variant primary progressive aphasia (svPPA) and Alzheimer’s disease (AD) by comparing the temporal gray matter texture and volume between cognitively normal controls and older adults with svPPA and AD. @*Methods@#We enrolled all participants from three university hospitals in Korea. We obtained T1-weighted magnetic resonance images and compared the gray matter texture and volume of regions of interest (ROIs) between the groups using analysis of variance with Bonferroni posthoc comparisons. We also developed models for classifying svPPA, AD and control groups using logistic regression analyses, and validated the models using receiver operator characteristics analysis. @*Results@#Compared to the AD group, the svPPA group showed lower volumes in five ROIs (bilateral temporal poles, and the left inferior, middle, and superior temporal cortices) and higher texture in these five ROIs and two additional ROIs (right inferior temporal and left entorhinal cortices). The performances of both texture- and volume-based models were good and comparable in classifying svPPA from normal cognition (mean area under the curve [AUC] = 0.914 for texture; mean AUC = 0.894 for volume). However, only the texture-based model achieved a good level of performance in classifying svPPA and AD (mean AUC = 0.775 for texture; mean AUC = 0.658 for volume). @*Conclusion@#Texture may be a useful neuroimaging marker for early detection of svPPA in older adults and its differentiation from AD.
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Background@#Proteomics and genomics studies have contributed to understanding the pathogenesis of chronic obstructive pulmonary disease (COPD), but previous studies have limitations. Here, using a machine learning (ML) algorithm, we attempted to identify pathways in cultured bronchial epithelial cells of COPD patients that were significantly affected when the cells were exposed to a cigarette smoke extract (CSE). @*Methods@#Small airway epithelial cells were collected from patients with COPD and those without COPD who underwent bronchoscopy. After expansion through primary cell culture, the cells were treated with or without CSEs, and the proteomics of the cells were analyzed by mass spectrometry. ML-based feature selection was used to determine the most distinctive patterns in the proteomes of COPD and non-COPD cells after exposure to smoke extract.Publicly available single-cell RNA sequencing data from patients with COPD (GSE136831) were used to analyze and validate our findings. @*Results@#Five patients with COPD and five without COPD were enrolled, and 7,953 proteins were detected. Ferroptosis was enriched in both COPD and non-COPD epithelial cells after their exposure to smoke extract. However, the ML-based analysis identified ferroptosis as the most dramatically different response between COPD and non-COPD epithelial cells, adjusted P value = 4.172 × 10−6 , showing that epithelial cells from COPD patients are particularly vulnerable to the effects of smoke. Single-cell RNA sequencing data showed that in cells from COPD patients, ferroptosis is enriched in basal, goblet, and club cells in COPD but not in other cell types. @*Conclusion@#Our ML-based feature selection from proteomic data reveals ferroptosis to be the most distinctive feature of cultured COPD epithelial cells compared to non-COPD epithelial cells upon exposure to smoke extract.
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Background@#There is a debate regarding the safety of etomidate. We evaluated the effects of etomidate on mortality in a large cohort of critical care patients. @*Methods@#This retrospective matched-cohort study was performed using the Medical Information Mart for Intensive Care version 3 (MIMIC-III) database. Among 12,526 adult patients who were prescribed etomidate or propofol on the first day of mechanical ventilation, 625 patients administered etomidate were statistically matched with 6,250 patients administered propofol. The primary outcome measures were all-cause in-hospital mortality, 48-hour survival, cardiovascular morbidity, and infectious morbidity. Logistic regression analysis with stepwise selection of variables was performed to examine the dose–mortality relationship of etomidate. @*Results@#All-cause in-hospital mortality was 1.84 times higher in the etomidate cohort (OR, 1.84; 98.75% CI, 1.42, 2.37). Compared to the propofol cohort, the etomidate cohort showed 57% lower odds of 48-hour survival (0.43 [0.27, 0.73]), no difference in odds of cardiovascular morbidity (0.86 [0.66, 1.12]), and 1.77 times higher odds of infectious morbidity (1.77 [1.35, 2.31]). Additionally, the odds of mortality increased by 1.36 times per 0.1 mg/kg of etomidate (1.36 [95% CI: 1.23, 1.49]). @*Conclusions@#Etomidate is a poor choice as a hypnotic drug on the first day of mechanical ventilation, as it is associated with a dose-dependent increase in all-cause mortality, and does not improve survival for the first 48 h.
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Background@#There is a debate regarding the safety of etomidate. We evaluated the effects of etomidate on mortality in a large cohort of critical care patients. @*Methods@#This retrospective matched-cohort study was performed using the Medical Information Mart for Intensive Care version 3 (MIMIC-III) database. Among 12,526 adult patients who were prescribed etomidate or propofol on the first day of mechanical ventilation, 625 patients administered etomidate were statistically matched with 6,250 patients administered propofol. The primary outcome measures were all-cause in-hospital mortality, 48-hour survival, cardiovascular morbidity, and infectious morbidity. Logistic regression analysis with stepwise selection of variables was performed to examine the dose–mortality relationship of etomidate. @*Results@#All-cause in-hospital mortality was 1.84 times higher in the etomidate cohort (OR, 1.84; 98.75% CI, 1.42, 2.37). Compared to the propofol cohort, the etomidate cohort showed 57% lower odds of 48-hour survival (0.43 [0.27, 0.73]), no difference in odds of cardiovascular morbidity (0.86 [0.66, 1.12]), and 1.77 times higher odds of infectious morbidity (1.77 [1.35, 2.31]). Additionally, the odds of mortality increased by 1.36 times per 0.1 mg/kg of etomidate (1.36 [95% CI: 1.23, 1.49]). @*Conclusions@#Etomidate is a poor choice as a hypnotic drug on the first day of mechanical ventilation, as it is associated with a dose-dependent increase in all-cause mortality, and does not improve survival for the first 48 h.
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Background@#Tension pneumothorax on the contralateral lung during one-lung ventilation (OLV) can be life-threatening if not rapidly diagnosed and managed. However, diagnosis is often delayed because the classic signs of tension pneumothorax are similar to clinical manifestations commonly observed during OLV.Case: We report a case of contralateral tension pneumothorax in a patient undergoing right upper lobectomy during OLV. The patient suffered from sudden cardiac arrest and was assisted by extra-corporeal membrane oxygenation. @*Conclusions@#Contralateral pneumothorax during OLV is rare but can occur at any time. Therefore, anesthesiologists should consider this critical complication.
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PURPOSE: The aim of the present study was to investigate communication function using classification systems and its association with other functional profiles, including gross motor function, manual ability, intellectual functioning, and brain magnetic resonance imaging (MRI) characteristics in children with cerebral palsy (CP). MATERIALS AND METHODS: This study recruited 117 individuals with CP aged from 4 to 16 years. The Communication Function Classification System (CFCS), Viking Speech Scale (VSS), Speech Language Profile Groups (SLPG), Gross Motor Function Classification System (GMFCS), Manual Ability Classification System (MACS), and intellectual functioning were assessed in the children along with brain MRI categorization. RESULTS: Very strong relationships were noted among the VSS, CFCS, and SLPG, although these three communication systems provide complementary information, especially for children with mid-range communication impairment. These three communication classification systems were strongly related with the MACS, but moderately related with the GMFCS. Multiple logistic regression analysis indicated that manual ability and intellectual functioning were significantly related with VSS and CFCS function, whereas only intellectual functioning was significantly related with SLPG functioning in children with CP. Communication function in children with a periventricular white matter lesion (PVWL) varied widely. In the cases with a PVWL, poor functioning was more common on the SLPG, compared to the VSS and CFCS. CONCLUSION: Very strong relationships were noted among three communication classification systems that are closely related with intellectual ability. Compared to gross motor function, manual ability seemed more closely related with communication function in these children.
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Child , Humans , Brain , Cerebral Palsy , Classification , Logistic Models , Magnetic Resonance Imaging , White MatterABSTRACT
OBJECTIVE: The objective of this study was to evaluate the association of social support with health status and health behavior. METHODS: This study was conducted with 79 elderly people in Gunja-ri, Dongsan-myun, Chuncheon. We performed face to face interview which was composed of socio-demographic characteristics, social support, health status and health behavior. The association between social support and result variables was analysed by Chi-square test and logistic regression. We used SAS ver9.1 for statistic analysis. RESULTS: Mean age of the study population was 72.0+/-7.0, social support score was 14.3+/-4.7 with full marks of 20 and 36.25% of the total population were shown to have depression. When the social support score was changed, depression (p=0.0007) and physical exercise (p=0.0312) showed significant difference. The self-rated health status was significantly related to the relationship with family members (OR=0.25, 95% CI=0.07-0.95) and the quality of sleep was also significantly associated to the relationship with family members (OR=0.21, 95% CI=0.06-0.73). The physical exercise was done significantly less in the group 'without' close friends than in the group with 'many' close friends (OR=0.21, 95% CI=0.05-0.94) and the depression was significantly more in the group without community participation than in the group with community participation (OR=4.79, 95% CI=1.62-14.15). CONCLUSIONS: Through this study, we could conclude that the social support factors are associated with health status and health behavior. Therefore, to improve the health status of rural elderly, we need to approach to develop social support.
Subject(s)
Aged , Humans , Community Participation , Depression , Exercise , Friends , Health Behavior , Logistic Models , Phenothiazines , Rural Health , SociologyABSTRACT
In this report, we present a case of chyluria that is a very rare urine abnormality in Korea. A 43-year-old woman was referred to our clinic with intermittent turbid and creamy-colored urine for 10 days. The urine tests, including a urine lipid profile, indicated a diagnosis of chyluria. There was no evidence of secondary causes of chyluria such as a tumor and filariasis, and a urinary-lymphatic fistula was not found. The patient was instructed to begin a high protein diet with low fat content and medium chain triglyceride oil supplementation. To the best of our knowledge, this is the first report describing a patient that presented with chyluria in Korea.
Subject(s)
Adult , Female , Humans , Diagnosis , Diet , Filariasis , Fistula , Korea , TriglyceridesABSTRACT
BACKGOUND: BK virus has emerged as a major cause of allograft loss in kidney transplant recipients over the past decade. The presence of BK virus in urine or blood indicates reactivation of the virus not necessarily accompanied by BK virus associated nephropathy. BK virus genotypes have been described based on the DNA sequence of VP1 region, and no data have been published on BK virus genotypes in Korea. In this study, we sought to determine BK virus genotypes and clinical characteristics associated with BK virus reactivation. METHODS: We isolated BK virus DNA from urine and blood of 103 kidney transplant recipients, and amplified VP1 region using polymerase chain reaction (PCR). The PCR products were sequenced and genotypes of BK virus (I-IV) were determined based on the nucleotide sequence 1744-1812 of the VP1 region. In addition, the clinical characteristics of the patients were analyzed to determine the risk factors of BK virus reactivation. RESULTS: Of 103 patients examined, 16 and 5 patients were shown to have BK viruria and viremia, respectively. Eight viral strains were demonstrated to be genotype I, but the other 8 strains neither matched with the genotypes from I to IV, nor did they fit into any other variants identified in the Western countries. Of note, 3 of these 8 unclassified strains were shown to have the same type of mutations. With respect to the risk factors of BK virus, tacrolimus and mycophenolate mofetil when combined with tacrolimus were found to be significantly associated with BK viruria and viremia. CONCLUSION: It appears that different variants of BK virus are prevalent in Korea compared with the Western countries, and that the reactivation of BK virus is significantly associated with tacrolimus.
Subject(s)
Humans , Allografts , Base Sequence , BK Virus , DNA , Genotype , Kidney , Korea , Polymerase Chain Reaction , Risk Factors , Tacrolimus , Transplantation , ViremiaABSTRACT
BACKGROUND: Diabetic nephropathy is the main cause of the end-stage renal disease in Korea. This study was performed to evaluate the progression pattern and risk factors of diabetic nephropathy in type 1 diabetes patients. METHODS: Total 64 patients who were registered in Ajou University Hospital since April 1994 till April 2004 were enrolled. We retrospectively analyzed the influence of systolic and diastolic blood pressure, serum creatinine, total cholesterol, albumin, HbA1c and urine albumin excretion on the rate of decline in creatinine clearance (CCr) by Cockcroft- Gault equation. RESULTS: The patients (27 males/37 females), aged 32.8+/-9.1 (mean+/-SD) years, with a mean duration of diabetes of 9.5+/-4.9 years, were followed more than 6 months. CCr were 113.0+/-20 mL/min/1.73m2 at diagnosis and a mean decrease rate was 3.8+/-3.6 mL/ min/1.73m2/year. Doubling time of serum creatinine was 13.1+/-3.2 year in patients who developed doubling of their creatinine (26.6%). Microalbuminuria and overt proteinuria developed at 8.1+/-2.5 year and at 11.4+/-1.5 year after the diagnosis of type 1 diabetes respectively. A mean decrease rate of CCr was 6.1+/-2.9 mL/min/1.73m2/year in patients who develop ESRD after 14.2+/-2.8 years. During the follow up, systolic and diastolic blood pressure, serum total cholesterol were significantly higher and the mean serum albumin and creatinine clearance were significantly lower in chronic renal failure (CRF) group compared to non-renal failure (non-CRF) group (p< 0.05). There was no significant difference in HbA1c between CRF and non-CRF groups. CONCLUSION: The results may suggest that Korean type 1 diabetes patients with diabetic nephropathy in Ajou hospital have a rather faster decline in kidney function compared with other reports. But we need further prospective study to confirm this findings.