Protein-Losing Enteropathy as a Complication of the Ketogenic Diet.

The ketogenic diet is an effective treatment for the patients with intractable epilepsy, however, the diet therapy can sometimes be discontinued by complications. Protein-losing enteropathy is a rarely reported serious complication of the ketogenic diet. We present a 16-month-old Down syndrome baby with protein-losing enteropathy during the ketogenic diet as a treatment for West syndrome. He suffered from diarrhea, general edema and hypoalbuminemia which were not controlled by conservative care for over 1 month. Esophagogastroduodenoscopy and stool alpha-1 antitrypsin indicated protein-losing enteropathy. Related symptoms were relieved after cessation of the ketogenic diet. Unexplained hypoalbuminemia combined with edema and diarrhea during ketogenic suggests the possibility of protein-losing enteropathy, and proper evaluation is recommended in order to expeditiously detect it and to act accordingly.ope

Primary Extragonadal Germ Cell Tumors in Klinefelter Syndrome: 10-Years of Experience from a Single Institute

Background: Approximately 8% of male patients presenting with primary mediastinal germ cell tumors (GCTs) have Klinefelter syndrome (KS), while patients diagnosed with retroperitoneal GCTs also exhibit a range of chromosomal abnormalities. The exact mechanism underlying the development of GCTs in Klinefelter syndrome is unknown, but KS frequently goes underdiagnosed as a result of its varied symptoms and a low general awareness of this condition. Thus, the Children’s Oncology Group recommends screening of Klinefelter syndrome in pediatric and adolescent male subjects who present with GCTs. Methods: We retrospectively reviewed the medical records of extragonadal germ cell tumor patients treated at Severance hospital, department of pediatrics or division of pediatric hematology-oncology over the last ten years. Results: A total of 95 patients with extragonadal germ cell tumors were included in this study. Karyotyping was done in eight patients out of 95 patients, three patients with KS and one patient with Down syndrome. Twelve of extragonadal GCT patients presented at mediastinum, with most common histology of mature teratoma, and three patients presented with chromosomal abnormalities, two with KS and one with Down syndrome. A total of nine patients were diagnosed with retroperitoneal GCTs and only one had KS. Conclusion: We described the characteristics of 95 cases of extragonadal GCTs. Although the mechanism of extragonadal GCTs in KS is not clear, karyotyping in pediatric and adolescent extragonadal GCT patients could be helpful in figuring out chromosomal abnormalities including KS and their roles in GCT pathophysiology, which can contribute to improve one’s health.ope

Usefulness of the RESP, PRESERVE, and ECMOnet scores for extracorporeal membrane oxygenation in children with acute respiratory distress syndrome

Purpose: With increasing use of extracorporeal membrane oxygenation (ECMO) for acute respiratory distress syndrome (ARDS) in children, development of standardized strategies for survival prediction has become crucial; however, this has not been accomplished yet. We evaluated the adult scoring systems for survival prediction used for their applicability in pediatric ARDS and validated them. Methods: A total of 11 children with ARDS receiving ECMO from 2013 to 2014 were evaluated with adult scoring systems, including the Respiratory Extracorporeal-membrane-oxygenation Survival Prediction (RESP), the PRedicting dEath for SEvere ARDS on VVECMO (PRESERVE), and the ECMOnet scores. We compared the scores on these scales and the clinical characteristics between survivors and nonsurvivors. Results: Eight of the 11 children died (72.7%). The PRESERVE score (survivors vs. nonsurvivors: 2 vs. 5.25, P=0.048), and the ECMOnet score (4.1 vs. 5.63, P=0.048) were lower in survivors than in nonsurvivors. They correctly predicted mortality prediction. There was no significant difference in the RESP score between survivors and non-survivors (-4.33 vs. -2.62, P=0.63). The parameters that showed significant differences in this study were peak inspiratory pressure, platelet, and delta neutrophil index. All children who were under immunocompromised conditions, such as those with tumors, or underwent hematopoietic stem cell transplantation died. The immunocompromised status should be considered an important factor for survival prediction in children with ARDS. Conclusion: This is the first pilot study to apply the survival prediction scoring system to pediatric ARDS with ECMO. It is necessary to establish and modify the survival prediction score system for pediatric ARDS with ECMO.ope

Epidemiology and Clinical Characteristics of Hemophilia in Korea - Report of the Korean Bleeding Disorder Registry (KBDR)

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Efficacy of low dose and short duration defibrotide prophylaxis for hepatic veno-occlusive disease after autologous haematopoietic stem cell transplantation

Hepatic veno-occlusive disease (VOD) is a serious systemic endothelial complication after stem cell transplantation. Defibrotide is under investigation as a prophylactic agent for VOD; however, high costs limit its utility. We evaluated the prophylactic efficacy of a low-dose defibrotide regimen for VOD. We retrospectively enrolled 147 paediatric patients who underwent autologous haematopoietic stem cell transplantation (HSCT; 69 with defibrotide prophylaxis and 78 historical controls) at the Yonsei Cancer Center in Seoul, Korea, between March 2013 and Feb 2020. Low-dose defibrotide (12.5 mg/kg/day) was administered from D-3 to D+10 after HSCT. The most common diagnosis in the cohort was brain tumour (N = 86). VOD developed in 10 (12.8%) and 3 (4.3%) patients in the control and prophylaxis groups, respectively (P = 0.071). In the second HSCT group, VOD incidence was significantly lower in the prophylaxis group [2.9% (1/35)] than in the control group (28.6%, 6/21, P = 0.005). VOD severity was significantly higher in the control group than in the prophylaxis group (P = 0.006). Three VOD-related mortalities occurred in the control group, whereas no VOD-related mortality occurred in the prophylaxis group. In conclusion, low-dose defibrotide prophylaxis is a promising and economical strategy for preventing VOD, especially in second-round HSCT.restrictio

Time-Series Reconstruction of CBC Profile of Pediatric Cancer Patients for Two Years after Hematopoietic Stem Cell Transplantation Using Language Programming

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Factors influencing perceived communication quality for successful fertility preservation counseling for adolescent and young adult cancer patients and their caregivers in Korea

Purpose: Although relatively new in Asian countries, fertility preservation (FP) discussions are crucial for adolescent and young adult (AYA) cancer patients. This study highlights patients' and their caregivers' perceptions of communications quality during FP discussions in Korea. Methods: Participants were AYA patients and their caregivers (each: n = 34). The study examined the clinical pathways for FP and used surveys to collect details on discussion characteristics and satisfaction levels during FP discussions at the Yonsei Cancer Center, Seoul, Korea. Quality and degree of satisfaction with FP discussions were measured on a scale ranging from 1 to 7. Results: Two caregivers did not complete the survey. All respondents reported high overall satisfaction; however, several factors were related to low satisfaction with information quality. Caregivers who received both verbal communication and nonverbal communication tools (e.g., pamphlets, Internet resources) were more satisfied with the information quality than those who only received verbal communication. Regarding provider type, both respondent groups reported high overall satisfaction with physicians, rather than other types of care providers. Regarding the number of discussion sessions, respondents reported an improved understanding of FP and better communication and information quality if they participated in more than one discussion session. Conclusion: The FP process for AYA cancer patients can be improved by adjusting the type of provider, number of discussion sessions, and types of information. This will form the cornerstone of effective FP communication in Korea.restrictio