Fabry disease (FD) is an X-linked lysosomal storage disorder caused by the deficient activity of α-galactosidase (α-Gal A), affecting multiple organs including kidney. In this study, we aimed to determine the prevalence of FD in patients with chronic kidney disease (CKD) including those on renal replacement therapy in Korea. Methods: This is a national, multicenter, observational study performed between August 24, 2017 and February 28, 2020. Patients with the presence of proteinuria or treated on dialysis were screened by measuring the α-Gal A enzyme activity using either dried blood spot or whole blood, and plasma globotriaosylsphingosine (lyso-GL3) concentration. A GLA gene analysis was performed in patients with low α-Gal A enzyme activity or increased plasma lyso-GL3 concentration. Results: Of 897 screened patients, 405 (45.2%) were male and 279 (31.1%) were on dialysis. The α-Gal A enzyme activity was measured in 891 patients (99.3%), and plasma lyso-GL3 concentration was measured in all patients. Ten patients were eligible for a GLA gene analysis: eight with low α-Gal A enzyme activity and two with increased plasma lyso-GL3 concentration. The GLA mutations were analyzed in nine patients and one patient was found with a pathogenic mutation. Therefore, one patient was identified with FD, giving a prevalence of 0.1% (1 of 897) in this CKD population. Conclusion: Although the prevalence of FD in the CKD population was low (0.1%), screening tests are crucial to detect potential diseases in patients with relatives who can benefit from early treatment.

Fabry nephropathy is characterized by a deficiency of lysosomal alpha-galactosidase A, which results in proteinuria and kidney disease. The ineffectiveness of enzyme replacement therapy (ERT) for severe kidney failure highlights the need for early detection and meaningful markers. However, because the diagnosis and treatment of Fabry disease can vary according to the expertise of physicians, we evaluated the opinions of Korean specialists. Methods: A questionnaire regarding the management of Fabry nephropathy was emailed to healthcare providers with the experience or ability to treat individuals with Fabry nephropathy. Results: Of the 70 experts who responded to the survey, 43 were nephrologists, and 64.3% of the respondents reported having treated patients with Fabry disease. Pediatricians are treating primarily patients with classic types of the disease, while nephrologists and cardiologists are treating more patients with variant types. Only 40.7% of non-nephrologists agreed that a kidney biopsy was required at the time of diagnosis, compared with 81.4% of nephrologists. Thirty-eight of 70 respondents (54.3%) reported measuring globotriaosylsphingosine (lyso-Gb3) as a biomarker. The most common period to measure lyso-Gb3 was at the time of diagnosis, followed by after ERT, before ERT, and at screening. For the stage at which ERT should begin, microalbuminuria and proteinuria were chosen by 51.8% and 28.6% of respondents, respectively. Conclusion: Nephrologists are more likely to treat variant Fabry disease rather than classic cases, and they agree that ERT should be initiated early in Fabry nephropathy, using lyso-Gb3 as a biomarker.

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.

PURPOSE: Pancreaticoduodenectomy (PD) is recently performed in older cancer patients. The complication rate of PD is high. The present study was to compare the postoperative short- and long-term outcomes of PD in between older patients and younger patients. METHODS: Between 2000 and 2014, patients who underwent PD due to periampullary cancers were enrolled. Patients aged 75 years or over were included in the older group. RESULTS: Total 1,249 patients were enrolled in this study and 168 patients (13.5%) were included in the older group. Postoperative complication rates, duration of postoperative hospital stay, and 30-day mortality were comparable between the 2 groups, although the admission rate of intensive care unit postoperatively was higher in the older adult group (20.8% vs. 10.5%, P < 0.001). In terms of long-term outcomes, 5-year overall survival rate was lower in the older group (23.4% vs. 41.8%, P < 0.001), and 5-year cumulative recurrence rate was higher in the older group without statistical significance (63.9% vs. 57.9%, P = 0.095). However, there were no statistical differences of cumulative recurrence in pancreatic cancer patients (81.5% vs. 82.5%, P = 0.805). CONCLUSION PD for periampullary cancer is a safe and feasible treatment in the older patients. The treatment modality for obtaining better survival outcomes will be investigated.

Objective: Bisphenol A (BPA) is a widely produced synthetic chemical used to manufacture polycarbonate plastics and epoxy resins. We aimed to investigate the association between exposure to BPA and behavioral and cognitive function in children with attention-deficit/hyperactivity disorder (ADHD) and healthy controls. Methods: The study included 444 children aged from 6 to 10 years. The ADHD and control groups included 195 and 249 children, respectively. BPA levels were assessed via urinalysis, while behavior was assessed using the Korean version of the ADHD Rating Scale (K-ARS) and the Behavior Assessment System for Children (BASC-2). Cognitive function was assessed using the Continuous Performance Test (i.e., ADHD Diagnostic System [ADS]). Participants were categorized into tertile groups based on urinary BPA concentration. Results: Scores on the K-ARS and the hyperactivity, aggression, anxiety, and depression subscales of the BASC-2 were significantly different among tertile groups for urinary BPA levels. Scores on visual omission error, commission error, response time variability, and auditory commission error of the ADS were significantly different among three BPA groups. Subgroup analysis revealed that these differences of behavior and cognition among three BPA groups were observed in only boys and normal controls. Conclusion Exposure to BPA was associated with unfavorable behavioral and cognitive outcomes. Our study extends the findings of previous studies regarding the association between BPA exposure and behavior/cognitive function by including children with ADHD. Further studies are required to determine the mechanisms underlying sex- and group-based differences in these associations.

OBJECTIVE: We aimed to investigate symptom trajectory of attention-deficit hyperactivity disorder (ADHD) in Korean school-age children. METHODS: Four hundred fifty six elementary school children were enrolled when they were in 1st grade and assessed once per year until 4th grade. Symptom severity was assessed by parents using the Korean version of the ADHD rating scale (K-ARS). High-risk was defined as a K-ARS score >18; 377, 325, and 284 children participated in the subsequent assessments. Symptom trajectory was analyzed using a mixed-model approach consistent with the longitudinal nature of the present study including missing data. RESULTS: K-ARS scores demonstrated significant main effects of time (F=35.33; p < 0.001), sex (F=20.77; p < 0.001), and first-year high-risk group (F=240.90; p<0.001). It also demonstrated a significant time×first-year high-risk group interaction effect (F=38.14; p < 0.001), but not a time×sex interaction effect. CONCLUSION: K-ARS scores demonstrated a tendency to decline with aging. Individuals in the high-risk group demonstrated earlier declining tendency than those in the non-high risk group. Although total K-ARS scores differed significantly between the sexes at all assessments, the declining pattern between both sexes did not differ significantly. Further studies including larger sample sizes, diagnostic interviews, and complete data sets are needed to confirm findings of the present study.
Aging ; Child* ; Dataset ; Humans ; Parents ; Sample Size

BACKGROUND: Intraductal papillary neoplasm of the bile duct (IPNB) is a recently defined entity and its clinical characteristics and classifications have yet to be established. We aimed to clarify the clinical features of IPNB and determine the optimal morphological classification criteria. METHODS: From 2003 to 2016, 112 patients with IPNB who underwent surgery were included in the analysis. After pathologic reexamination by a specialized biliary-pancreas pathologist, previously suggested morphological and anatomical classifications were compared using the clinicopathologic characteristics of IPNB. RESULTS: In terms of histologic subtypes, most patients had the intestinal type (n = 53; 48.6%) or pancreatobiliary type (n = 33; 30.3%). The simple “modified anatomical classification” showed that extrahepatic IPNB comprised more of the intestinal type and tended to be removed by bile duct resection or pancreatoduodenectomy. Intrahepatic IPNB had an equally high proportion of intestinal and pancreatobiliary types and tended to be removed by hepatobiliary resection. Morphologic classifications and histologic subtypes had no effect on survival, whereas a positive resection margin (75.9% vs. 25.7%; P = 0.004) and lymph node metastasis (75.3% vs. 30.0%; P = 0.091) were associated with a poor five-year overall survival rate. In the multivariate analysis, a positive resection margin and perineural invasion were important risk factors for survival. CONCLUSION: IPNB showed better long-term outcomes after optimal surgical resection. The “modified anatomical classification” is simple and intuitive and can help to select a treatment strategy and establish the proper scope of the operation.
Bile Duct Neoplasms ; Bile Ducts* ; Bile Ducts, Extrahepatic ; Bile Ducts, Intrahepatic ; Bile* ; Cholangiocarcinoma ; Classification* ; Humans ; Lymph Nodes ; Multivariate Analysis ; Neoplasm Metastasis ; Pancreaticoduodenectomy ; Risk Factors ; Survival Rate

PURPOSE: The aim of the study is to evaluate the health-related quality of life, psychological symptoms, distress, and sense of coherence in adult haematopoietic stem cell transplantation survivors. METHODS: Fifty two survivors completed four questionnaires after the transplantation. The questionnaires were the Functional Assessment of Cancer Therapy-BMT Scale, the National Cancer Center Psychological Symptom Inventory, the Distress Thermometer, and the Sense of Coherence scale. RESULTS: Quality of life was positively correlated with sense of coherence, whereas sense of coherence was negatively correlated with all psychological symptoms and distress. Hierarchical regression analyses revealed that sense of coherence was the only significant predictor of quality of life after controlling for sex and age at transplantation. Model 2 explained 33.2% of the total variance of quality of life. CONCLUSION: Supporting patients towards improving comprehensibility, manageability and meaningfulness, the three components of sense of coherence, may be beneficial and improve outcomes. Individually pre-transplant and post-transplant assessments of sense of coherence may be of clinical importance, in order to identify patients with unmet needs and to provide rolonged support.
Adult* ; Hematopoietic Stem Cell Transplantation ; Humans ; Quality of Life* ; Sense of Coherence ; Stem Cell Transplantation* ; Stem Cells* ; Survivors* ; Symptom Assessment ; Thermometers

BACKGROUND: During nasotracheal intubation it is important to have proper pretreatment for nasal mucosa constriction and nasal cavity expanding. Nasal packing of epinephrine gauze is widely used as well as xylometazoline. The aim of this study was to compare and evaluate the efficacy of prophylactic intranasal spray of xylometazoline against epinephrine gauze packing in expanding the nasal cavity. METHODS: Volunteers (n = 32) in their twenties without nasal disease such as septal deviation or rhinitis were enrolled in the study. The more patent nostril in each subject was measured by acoustic rhinometry as the base value. After intranasal spray of xylometazoline, the same nostril was remeasured by same method. Twenty four hours later, intranasal packing of epinephrine gauze was done and the same treatment was done. Subject preferences about the procedures were asked. RESULTS: There were significant difference among treatments (base value: 0.582 +/- 0.164 cm2, xylometazoline spray: 0.793 +/- 0.165 cm2, epinephrine gauze packing: 0.990 +/- 0.290 cm2) in acoustic rhinometry. While the epinephrine gauze packing showed more efficient mucosa constriction, subjects preferred xylometazoline spray. CONCLUSIONS: Even though xylometazoline spray was less effective than epinephrine gauze packing, the simplicity and convenience compensated. In patients undergoing nasotracheal intubation, xylometazoline spray can be an alternative to epinephrine gauze packing.
Constriction ; Epinephrine ; Humans ; Imidazoles ; Intubation ; Mucous Membrane ; Nasal Cavity ; Nasal Mucosa ; Nose Diseases ; Rhinitis ; Rhinometry, Acoustic

PURPOSE: The purpose of this study was to identify cancer-related symptom clusters and to validate the conceptual meanings of the revealed symptom clusters in patients with hepatocellular carcinoma. METHODS: This study was a cross-sectional survey and methodological study. Patients with hepatocellular carcinoma (N=194) were recruited from a medical center in Seoul. The 20-item Symptom Checklist was used to assess patients' symptom severity. Selected symptoms were factored using principal-axis factoring with varimax rotation. To validate the revealed symptom clusters, the statistical differences were analyzed by status of patients' performance status, Child-Pugh classification, and mood state among symptom clusters. RESULTS: Fatigue was the most prevalent symptom (97.4%), followed by lack of energy and stomach discomfort. Patients' symptom severity ratings fit a four-factor solution that explained 61.04% of the variance. These four factors were named pain-appetite cluster, fatigue cluster, itching-constipation cluster, and gastrointestinal cluster. The revealed symptom clusters were significantly different for patient performance status (ECOG-PSR), Child-Pugh class, anxiety, and depression. CONCLUSION: Knowing these symptom clusters may help nurses to understand reasonable mechanisms for the aggregation of symptoms. Efficient symptom management of disease-related and treatment-related symptoms is critical in promoting physical and emotional status in patients with hepatocellular carcinoma.
Adult ; Aged ; Anxiety ; Carcinoma, Hepatocellular/diagnosis/*psychology/secondary ; Checklist ; Cluster Analysis ; Cross-Sectional Studies ; Demography ; Depression ; Fatigue ; Female ; Humans ; Liver Function Tests ; Liver Neoplasms/diagnosis/*psychology ; Male ; Middle Aged ; Severity of Illness Index