This study focused on the role of cytochrome P450 2D6 (CYP2D6) genotypes to predict phenotypes in the metabolism of dextromethorphan. CYP2D6 genotypes and metabolic ratios (MRs) of dextromethorphan were determined in 201 Koreans. Unsupervised clustering algorithms, hierarchical and k-means clustering analysis, and color visualizations of CYP2D6 activity were performed on a subset of 130 subjects. A total of 23 different genotypes were identified, five of which were observed in one subject. Phenotype classifications were based on the means, medians, and standard deviations of the log MR values for each genotype. Color visualization was used to display the mean and median of each genotype as different color intensities. Cutoff values were determined using receiver operating characteristic curves from the k-means analysis, and the data were validated in the remaining subset of 71 subjects. Using the two highest silhouette values, the selected numbers of clusters were three (the best) and four. The findings from the two clustering algorithms were similar to those of other studies, classifying $^*5/^*5$ as a lowest activity group and genotypes containing duplicated alleles (i.e., $CYP2D6^*1/^*2N$) as a highest activity group. The validation of the k-means clustering results with data from the 71 subjects revealed relatively high concordance rates: 92.8% and 73.9% in three and four clusters, respectively. Additionally, color visualization allowed for rapid interpretation of results. Although the clustering approach to predict CYP2D6 phenotype from CYP2D6 genotype is not fully complete, it provides general information about the genotype to phenotype relationship, including rare genotypes with only one subject.
Introduction Cloninger's Novelty-Seeking (NS) and Harm-Avoidance (HA) were found to be the biopsychological characteristic of Sasang typology, and the So-Yang type has high NS and low HA however the So-Eum type as contrary. The purpose of this study was to show the clinical usefulness of these measures as objective clinical index of Sasang typology in foreign countries lacking validated measures. Methods The Sasang type of 103 university students was diagnosed using Questionnaire for Sasang Constitution Classification (QSCC) II and clinical specialist, and biopsychological and physical features with NS, HA, Sasang Personality Questionnaire (SPQ) and BMI. These measures were normalized to make a noble index of 'NS(100-HA)', and the correlation among these were examined with Pearson's correlation. The differences of biopsychological and physical features between Sasang type groups were attested with ANCOVA, and the comparison of clinical usefulness of SPQ and NS(100-HA) were examined with discriminant analysis. Results SPQ and BMI were clinically useful for Sasang typology as shown in previous studies, and the substitution of SPQ with normalized NS(100-HA) was found acceptable. The NS(100-HA) is significantly correlated with SPQ (r=0.466, p<0.01), however not with BMI (r=0.079, ns). The SPQ and NS(100-HA) scores were found to be distinctive between Sasang type groups, and these were found to predict Sasang type of participants with similar correctness. Discussion and Conclusion The current study reviewed the theoretical backgrounds and confirmed the clinical usefulness of Cloninger's biopsychological theory in Sasang typology. These might provide foundations for integrative medicine and cross-cultural biopsychology of the East and West.
Objective: To identify epidermal growth factor receptor (EGFR) mutations in lung adenocarcinoma based on 18F-fluorodeoxyglucose (FDG) PET/CT radiomics and clinical features and to distinguish EGFR exon 19 deletion (19 del) and exon 21 L858R missense (21 L858R) mutations using FDG PET/CT radiomics. Materials and Methods: We retrospectively analyzed 179 patients with lung adenocarcinoma. They were randomly assigned to training (n = 125) and testing (n = 54) cohorts in a 7:3 ratio. A total of 2632 radiomics features were extracted from the tumor region of interest from the PET (1316) and CT (1316) images. Six PET/CT radiomics features that remained after the feature selection step were used to calculate the radiomics model score (rad-score). Subsequently, a combined clinical and radiomics model was constructed based on sex, smoking history, tumor diameter, and rad-score. The performance of the combined model in identifying EGFR mutations was assessed using a receiver operating characteristic (ROC) curve. Furthermore, in a subsample of 99 patients, a PET/CT radiomics model for distinguishing 19 del and 21 L858R EGFR mutational subtypes was established, and its performance was evaluated. Results: The area under the ROC curve (AUROC) and accuracy of the combined clinical and PET/CT radiomics models were 0.882 and 81.6%, respectively, in the training cohort and 0.837 and 74.1%, respectively, in the testing cohort. The AUROC and accuracy of the radiomics model for distinguishing between 19 del and 21 L858R EGFR mutational subtypes were 0.708 and 66.7%, respectively, in the training cohort and 0.652 and 56.7%, respectively, in the testing cohort. Conclusion: The combined clinical and PET/CT radiomics model could identify the EGFR mutational status in lung adenocarcinoma with moderate accuracy. However, distinguishing between EGFR 19 del and 21 L858R mutational subtypes was more challenging using PET/CT radiomics.
Background and Objectives: There is limited evidence regarding machine-learning prediction for the recurrence of atrial fibrillation (AF) after electrical cardioversion (ECV). This study aimed to predict the recurrence of AF after ECV using machine learning of clinical features and electrocardiograms (ECGs) in persistent AF patients. Methods: We analyzed patients who underwent successful ECV for persistent AF. Machine learning was designed to predict patients with 1-month recurrence. Individual 12-lead ECGs were collected before and after ECV. Various clinical features were collected and trained the extreme gradient boost (XGBoost)-based model. Ten-fold cross-validation was used to evaluate the performance of the model. The performance was compared to the C-statistics of the selected clinical features. Results: Among 718 patients (mean age 63.5±9.3 years, men 78.8%), AF recurred in 435 (60.6%) patients after 1 month. With the XGBoost-based model, the areas under the receiver operating characteristic curves (AUROCs) were 0.57, 0.60, and 0.63 if the model was trained by clinical features, ECGs, and both (the final model), respectively. For the final model, the sensitivity, specificity, and F1-score were 84.7%, 28.2%, and 0.73, respectively. Although the AF duration showed the best predictive performance (AUROC, 0.58) among the clinical features, it was significantly lower than that of the final machine-learning model (p<0.001). Additional training of extended monitoring data of 15-minute single-lead ECG and photoplethysmography in available patients (n=261) did not significantly improve the model's performance. Conclusions: Machine learning showed modest performance in predicting AF recurrence after ECV in persistent AF patients, warranting further validation studies.
Objectives : The goals of the present study are to assess children with tic disorders, their clinical characteristic and to prove the effectiveness of herbal treatments of tic disorders. Methods : The present study was conducted from January 2006 to April 2011, with 200 out-patient children between the age of 6 to 12 diagnosed with tic disorder (after excluding 10 children who could not be clearly diagnosed) at the "H'herbal medicine clinic located in Seoul. Of these 200 children, we have evaluated the epidemiology and clinical manifestation, and analyzed the results of herbal medicine treatments. Results : 1. Among the children diagnosed with tic disorder, TTD was most prevalent (43.3%) and males were more likely than females to express tics (5.45:1). Children with TD sought help significantly later (average age of 9.03 years) than the other types. 2. The analysis results of herbal medicine treatments are as follows. Compared to the pre-treatment assessment, children who received herbal medicine treatment for more than three months (n=52) showed a marked decrease in symptoms of motor tics (the number of motor tics, frequency, severity, complexity) and vocal tics (the number of vocal tics, frequency, severity), in the impairment level of combined tics (motor and vocal tics together) and in the overall score. Conclusions : In conclusion, we apprehended demographic and clinical characteristics of tic disorder patients who visited a Korean traditional medicine clinic by analyzing the psychological assessment results. Furthermore, we identified the effectiveness of herb formula in tic disorder.
Objective: To compare the clinical and radiologic findings between perforated and non-perforated choledochal cysts in children. Materials and Methods: Fourteen patients (mean age ± standard deviation, 1.7 ± 1.2 years) with perforated choledochal cysts (perforated group) and 204 patients (3.6 ± 3.8 years) with non-perforated choledochal cysts (non-perforated group) were included between 2000 and 2019. All patients underwent choledochal cyst excision after ultrasound, CT, or MR cholangiopancreatography. Relevant data including demographics, clinical symptoms, laboratory findings, imaging findings, and outcomes were analyzed. Statistical differences were compared using the Mann-Whitney U test and Fisher's exact test. Results: Choledochal cyst perforation occurred only in children under the age of 4 years. Acute symptoms, including fever (p < 0.001), were more common in the perforated group than in the non-perforated group. High levels of white blood cells (p = 0.004), C-reactive protein (p < 0.001), and serum amylase (p = 0.002), and low levels of albumin (p < 0.001) were significantly associated with the perforated group. All 14 patients with perforated choledochal cysts had ascites, whereas only 16% (33/204) of patients in the non-perforated group had ascites (p < 0.001). In the subgroup of patients who had ascites, a large amount of ascites (p = 0.001), increase in the amount of ascites in a short time (p < 0.001), complex ascites (p < 0.001), and perihepatic pseudocysts (p < 0.001) were more common in the perforated group than in the non-perforated group. Conclusion: Children with perforated choledochal cysts have characteristic clinical and radiologic findings compared to those with non-perforated choledochal cysts. In young children with choledochal cysts, perforation should be differentiated in cases with acute symptoms, laboratory abnormalities, and characteristic ascites findings.
Background: This study clinically evaluated the effect of botulinum toxin type A (BTX-A) in the temporomandibular disorder (TMD) treatment using Research Diagnostic Criteria for Temporomandibular Disorders (RDC/TMD). Methods: A total of 21 TMD patients were recruited to be treated with BTX-A injections on the bilateral masseter and temporalis muscles and were followed up by an oral and maxillofacial surgeon highly experienced in the TMD treatment. For each patient, diagnostic data gathering were conducted according to the RDC/TMD. Characteristic pain intensity, disability points, chronic pain grade, depression index, and grade of nonspecific physical symptoms were evaluated. Wilcoxon signed-rank test was applied for statistical analysis. Results: The results showed that more than half of the participants (85.7 %) had parafunctional oral habits such as bruxism or clenching. In comparison between pre- and post-treatment results, graded pain score, characteristic pain intensity, disability points, chronic pain grade, and grade of nonspecific physical symptoms showed statistically significant differences after the BTX-A injection therapy (p < 0.05). Most patients experienced collective decrease in clinical manifestations of TMD including pain relief and improved masticatory functions after the treatment. Conclusions: Within the limitation of our study, BTX-A injections in masticatory musculatures of TMD patients could be considered as a useful option for controlling complex TMD and helping its associated symptoms.
To inquire its usefulness of the clinical application of intelligent replenishment system of automatic X-ray film processor based on film density, we processed the serial 300 sheets of radiographic film of chest [$14{\times}14"$, HR-C type] and bone [elbow & ankle($8{\times}10"$), skull($10{\times}12"$), hand & foot($11{\times}14"$), pelvis($14{\times}17"$), HR-G type, 68, 70, 77, 85 sheets respectively]. We analyzed the characteristic corves, relative speeds, average gradients and base plus fog densities every twenty five sheets. We also evaluated the developer and fixer replenishment volumes every that time. In the chest and bone radiograph two all, the characteristic curves were little change, and the relative speeds, average gradients and base plus fog densities were within the maximum control limits. The average developer replenishment volumes were about 43m1/sheet and 39m1/sheet respectively. It brings decreased results about 29% in comparison with the conventional replenishment system. In our experiences, we conclude that the intelligent replenishment system of automatic X-ray film processor based on film density maintains image quality consistently, decreases also the replenishment volumes. Therefore, this system will be resulted in economic and environmental effects, and solve problems of over and low replenishment volume.
A clinical study was made on 365 low birth weight infant and 406 normal birth weight infant who had been born at Kangnam St. mary's Hospital during past 3 years from Jan. 1, 1995 to Dec. 31, 1997. the data of this study were gathered through reviewing of medical records. 1. Comparison of general characteristic with of obstetric characteristic 1) Old maternal age, previous abortion and previous LBWI delivery in the group of low birth weight infant(LBWI) mother were more prevalent than those in the group of normal birth weight infant(NBWI)mother 2) Cesarean section, abnormal presentation and multiple pregnancy in the group of LBWI mother were prevalent than those in the group of NBWI mother. 3) regular antenartal care and visiting rate of tertiary hospital in the group of LBWI mother were more prevalent than those in the group of NBWI mother. 2. Frequency of low birth weight infant 1) Anmual average frequency of LBWI was 6.5% and monthly frequency was the highest in January and december. 2) The frequency of LBWI was the highest in 37-40wks of gestational age and was the highest in 2251-2500 gm of birth weight. 3) The frequency of congenital anomaly in the group of LBWI was more prevalent than that of NBWI. 3. Mortality rate of LBWI The mortality rate of LBWI was 9.2%. The highest mortality rate was noted before 27wks of gestational age, less than 1000gm of birth weight and within 12hrs of delivery. 4. The most common complication of pregnant women was pre-term labor, the most complication relating to placenta was premature rupture of membrane(PROM) and the most fetal complication was fetal distress in delivered LBWI. 5. Significant relating factors of low birth weight infant delivery were associated with maternal age, previous delivery, previous low birth weight delivery, pre-eclampsia, anemia, oligohydramnios, PROM, placenta previa, abruptio placenta, fetal sex, fetal distress and congenital anomaly.
The Journal of Korea Assosiation for Disability and Oral Health
/
v.3
no.1
/
pp.17-21
/
2007
Alagille syndrome is an autosomal dominant genetic disorder and occurs in approximately 1 in 100,000 live births. Diagnostic criteria was established by Alagille. It is mainly caused by a mutation in the Jagged1 gene. Major clinical features of this syndrome are paucity of intrahepatic bile duct with cholestasis, characteristic facies, cardiac murmur, defects of vertebrae, and embryotoxon. And minor clinical features are mental retardation, renal involvement, growth retardation, other skeletal abnormalities, a high-pitched voice. The surviving prognosis of Alagille syndrome patients depends on the severity of cardiovescular malformation in the early ages of infant. However, with the increasing years, it depends on the severity of the liver disease. Cholestasis causes congenital jaundice, malnutrition and growth retardation. Also, the increase of serum cholesterol level cause xanthoma and pruritus. Even though the severity of these problems are reduce with age, there is cases where there is no way but liver transplantation. For oral features of Alagille syndrome patients, green discoloration of entire dentition, induced by bilirubin infiltration into dentinal tubules, is especially. Also, xanthoma on gingiva and partial hypodontia have been reported. This report is on the oral features of an Alagille syndrome patient who visited to Kyung-Pook University Hospital.
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