Congenital fiber type disproportion (CFTD) has been related with mutations in ACTA1, SEPN1, RYR1 and tropomyosin 3 (TPM3) genes. Particularly, TPM3 mutation was identified as one of the most frequent cause of CFTD and was also detected in cap myopathy and nemaline myopathy. Herein we report patients of autosomal dominant TPM3 missense mutations with CFTD in a Korean family over twogenerations. Two of our patients, who developed mild muscle weakness in infancy, presented with altered mentality and respiratory distress despite relatively mild limb weakness.
Extremities ; Humans ; Muscle Weakness ; Muscular Diseases ; Mutation, Missense ; Myopathies, Nemaline ; Myopathies, Structural, Congenital ; Respiratory Insufficiency ; Ryanodine Receptor Calcium Release Channel ; Tropomyosin

BACKGROUND: Hematopoietic stem cell transplantation (HSCT) patients need parenteral nutrition because of nausea, vomiting, and mucositis caused by conditioning regimens. The demand for glutamine increases during the HSCT period. We evaluated the effects of glutamine-containing parenteral nutrition on the clinical outcomes of HSCT patients. METHODS: In this retrospective analysis, we reviewed HSCT patients from Seoul National University from August 2013 to July 2017. Depending on their glutamine supplementation status, 91 patients were divided into 2 groups: glutamine group (N=44) and non-glutamine group (N=47). We analyzed the rate of weight change, infection (clinically/microbiologically documented), complications (duration of mucositis and neutropenia, acute graft versus host disease), and 100-days mortality in each group. RESULTS: Regarding the clinical characteristics of the patients, there were no significant differences between the 2 groups except that there was a larger proportion of myeloablative conditioning regimen in the glutamine group (P=0.005). In the glutamine group, the average number of days of glutamine use, parenteral nutrition, and mucositis was 7.6±1.4, 14.6±9.9, and 13.3±9.5, respectively. Furthermore, multivariate analysis revealed odds ratios of 0.37 (95% CI, 0.14–0.96; P=0.042) and 0.08 (95% CI, 0.01–0.98; P=0.048) for clinically documented infection and 100-days mortality, respectively, in the glutamine group. CONCLUSION: Results showed that the glutamine group had less clinically documented infection and 100-days mortality than the non-glutamine group, but the other outcomes did not show significant differences. The extended duration of glutamine supplementation according to the period of total parenteral nutrition and mucositis should be considered.
Adult ; Glutamine ; Hematopoietic Stem Cell Transplantation ; Hematopoietic Stem Cells ; Humans ; Mortality ; Mucositis ; Multivariate Analysis ; Nausea ; Neutropenia ; Odds Ratio ; Parenteral Nutrition ; Parenteral Nutrition, Total ; Retrospective Studies ; Seoul ; Transplants ; Vomiting

Purpose: Malnutrition is a common problem in hospitalized patients that can increase the risk of complications, including infections and length of hospitalization. Appropriate nutritional support is important, particularly in pediatric patients, because growth and development are closely related to the nutritional supply. This study examined the status of nutritional support for pediatric patients in general wards to determine if interventions of the pediatric nutrition support team (pNST) contribute to appropriate nutritional support and help improve their nutritional status. Methods: Between July 2016 and June 2017, all pediatric inpatients who received parenteral nutrition support at the Seoul National University Bundang Hospital were recruited and divided into the NST group and non-NST group according to the activities of pNST. The nutritional status was assessed in all subjects, and the calories and proteins delivered through nutritional support in each group were calculated and then compared with the recommended requirements in pediatric patients. Results: The number of patients recruited was 174: 100 (57.5%) in the NST group and 74 (42.5%) in the non-NST group. Significantly more calories and protein were supplied in the NST group than the non-NST group in hospitalized children aged between four and 17 years (P＜0.05). In the non-NST group, the amounts of calories supplied were insufficient compared to the recommended requirements. The proportion of patients supplied with the appropriate number of calories was 60.0% in the NST group and 20.0% in the non-NST group (P＜0.001), and the proportion of cases supplied with the appropriate amount of protein was 87.0% in the NST group and 62.2% in the non-NST group (P＜0.001). Conclusion Interventions of the pediatric nutrition support team contributed to the sufficient supply of calories and protein and the improvement of clinical outcomes in hospitalized children on parenteral nutrition therapy.

BACKGROUND: The patients receiving hematopoietic stem cell transplantation (HSCT) are known to have a high incidence of breakthrough nausea and vomiting due to the conditioning regimen. The purpose of this study was to evaluate the adequacy of antiemetic therapy for breakthrough nausea and vomiting in patients receiving HSCT and to propose an effective treatment regimen. METHODS: We retrospectively reviewed the electronic medical records of 109 adult patients. The collected data were used to identify (1) antiemetic and dosing regimens prescribed for controlling breakthrough nausea and vomiting, (2) the rate of patients who developed breakthrough nausea and vomiting, and (3) the percent of antiemetics prescribed on the day of symptom onset. Based on the National Comprehensive Cancer Network guideline, we assessed the suitability of antiemetics for breakthrough nausea and vomiting, and prescription timing. RESULTS: All patients were prescribed pro re nata antiemetics. About 40.0%, 41.4%, and 18.6% of patients were using one, two, and three or more additional drugs for breakthrough nausea and vomiting, respectively. The most frequently administered drugs were intravenous metoclopramide (43.8%) and granisetron patch (36.2%). Breakthrough nausea and vomiting occurred in 87 patients (79.1%) and they developed symptoms 320 cases. About 220 cases (68.8%) were treated with additional antiemetics on the day of symptom onset and the rate of symptom resolution was only 10.3% (9 patients). CONCLUSION: The breakthrough nausea and vomiting in patients receiving HSCT occurred very frequently and was hard to control, thus requiring more rapid and aggressive treatments.
Adult ; Antiemetics ; Electronic Health Records ; Granisetron ; Hematopoietic Stem Cell Transplantation* ; Hematopoietic Stem Cells* ; Humans ; Incidence ; Metoclopramide ; Nausea* ; Prescriptions ; Retrospective Studies ; Vomiting*

BACKGROUND AND OBJECTIVES: Despite significant advances in the treatment of acute myocardial infarction (MI), the prevention of sudden cardiac death (SCD), the most common mode of death in patients with MI, remains challenging. Furthermore, previous Korean MI registries did not address the issue of post-MI SCD. Additional risk stratifiers of post-MI SCD are still required to compensate for the limitation of using left ventricular ejection fraction to predict lethal arrhythmic events. SUBJECTS AND METHODS: We designed the first Korean prospective nationwide multicenter registry primarily focused on SCD; the Korean noninvasive Risk Evaluation study for sudden cardiac DEath From INfarction or heart failurE (K-REDEFINE). The registry consists of 2 groups of patients presenting with (1) acute MI or (2) acute heart failure (HF) at 25 tertiary referral cardiovascular centers. The primary endpoint of the MI group study of K-REDEFINE registry is the incidence and risk factors of post-MI SCD. In particular, the association between the risk of SCD and non-invasive Holter-based electrocardiogram (ECG) variables will be evaluated, such as T-wave alternans (marker of repolarization heterogeneity) and heart rate turbulence/variability (a marker of autonomic function). Other secondary study outcomes include atrioventricular arrhythmias, HF-related admission, repeated myocardial ischemic events, stroke, and overall deaths. CONCLUSION AND PERSPECTIVE: The K-REDEFINE registry will provide new prospects for the better management of MI patients with high risk of SCD by clarifying the burden and predictors of SCD and the clinical utility of various non-invasive ambulatory ECG-based variables in risk stratification for SCD in this patient population.
Arrhythmias, Cardiac ; Death, Sudden, Cardiac* ; Electrocardiography ; Heart Failure* ; Heart Rate ; Heart* ; Humans ; Incidence ; Infarction* ; Myocardial Infarction* ; Prospective Studies ; Referral and Consultation ; Registries ; Risk Factors ; Stroke ; Stroke Volume

BACKGROUND AND OBJECTIVES: Sudden cardiac death (SCD) is one of the most common causes of death in patients with heart failure (HF). However, there are no available data on SCD in previous Korean HF registries. Additionally, although widely used, the utility of left ventricular (LV) ejection fraction (EF) in risk stratification for SCD is limited. SUBJECTS AND METHODS: The Korean non-invasive Risk Evaluation study for sudden cardiac DEath From INfarction or heart failurE (KREDEFINE) is the first Korean prospective, nationwide multicenter registry, primarily focused on SCD. The registry consists of 2 groups of patients presenting with (1) acute HF or (2) acute myocardial infarction (MI) at 25 tertiary referral cardiovascular centers. Using the HF-group data of the K-REDEFINE registry, the incidence and risk factors of SCD in patients with HF will be assessed. In particular, the efficacy of Holter-based ECG variables, such as T-wave alternans (marker of repolarization heterogeneity) and heart rate turbulence/ variability (maker of autonomic function), in risk stratification for SCD will be evaluated. Other cardiovascular outcomes will also be analyzed, including atrioventricular arrhythmias, HF-related admission, stroke, and overall deaths. CONCLUSION AND PERSPECTIVE: The K-REDEFINE registry will pave the way for better management of patients with HF at high risk of SCD by elucidating the burden and risk factors of SCD and the clinical utility of various non-invasive ambulatory ECG-based parameters in risk stratification for SCD in this patient population.
Arrhythmias, Cardiac ; Cause of Death ; Death, Sudden, Cardiac* ; Electrocardiography ; Heart Failure* ; Heart Rate ; Heart* ; Humans ; Incidence ; Infarction* ; Myocardial Infarction ; Prospective Studies ; Referral and Consultation ; Registries ; Risk Factors ; Stroke