Background: Gaucher disease (GD) is the most common lysosomal storage disease and requires long-term enzyme replacement therapy (ERT), which is costly and inconvenient for resource-limited countries such as Thailand. The authors present the case of a 1-year-old boy who was diagnosed with GD type 1 with a homozygous mutation at c.1448 T>C (L444P). He was treated with ERT and matched sibling hematopoietic stem cell transplantation (HSCT) was performed 6 months after the ERT was initiated. At a 3-year follow-up after the HSCT, he had full engraftment and the Lyso-GL1 levels were also at an acceptable level, which indicated disease remission. In conclusion, the authors suggest HSCT for long-term remission of GD in children.

Appropriate sedation in mechanically ventilated patients is important to facilitate adequate respiratory support and maintain patient safety. However, the optimal sedation protocol for children is unclear. This study assessed the effectiveness of a sedation protocol utilizing the COMFORT-B sedation scale in reducing the duration of mechanical ventilation in children. This was a nonrandomized prospective cohort study compared with a historical control. The prospective cohort study was conducted between November 2015 and August 2016 and included 58 mechanically ventilated patients admitted to the pediatric intensive care unit (PICU). All patients received protocolized sedation utilizing the COMFORT-B scale, which was assessed every 12 hours after intubation by a single assessor. The prospective data were compared with retrospective data of 58 mechanically ventilated patients who received sedation by usual care from November 2014 to August 2015. Fifty percent of 116 patients were male and the mean age was 22 months (interquartile range [IQR]: 6.6–68.4). Patients in the intervention group showed no difference in the duration of mechanical ventilation (median 4.5 [IQR: 2.2–10.5] vs. 5 [IQR: 3–8.8] days). Also, there were no significant differences in the PICU length of stay (LOS; median 7 vs. 7 days, p = 0.59) and hospital LOS (median 18 vs. 14 days, p = 0.14) between the intervention and control groups. The percentages of sedative drugs, including fentanyl, morphine, and midazolam, in each group were not statistically different. The COMFORT-B scale with protocolized sedation in mechanically ventilated pediatric patients in the PICU did not reduce the duration of mechanical ventilation compared with usual care.

An 8-month-old girl presented with chronic mucous bloody diarrhea for 3 months. She was diagnosed as infective gastroenteritis and did not improve after antibiotic treatment. Three months subsequently, she was diagnosed with allergic gastroenteritis after developing generalized skin rash and was treated with amino acid-based formula but the symptoms of diarrhea deteriorated. The results of a biopsy of the gastrointestinal tract and skin lesions confirmed the diagnosis of Langerhans cell histiocytosis. Although Langerhans cell histiocytosis is uncommon with gastrointestinal tract involvement, Langerhans cell histiocytosis should be listed in the differential diagnosis for patients who present with chronic mucous bloody diarrhea that is unresponsive to multimodality treatment.

Background  Childhood leukemia with musculoskeletal (MSK) involvement mimics various conditions, which consequently leads to diagnostic delays. The clinical implication of MSK involvement in this disease on survival outcomes is inconclusive. This study aimed to compare characteristics and survival outcomes between MSK and non-MSK involvement in childhood leukemia. Methods The medical records of children newly diagnosed with acute leukemia of an age under 15 years were retrospectively reviewed. Two-to-one nearest-neighbor propensity score-matching was performed to obtain matched groups with and without MSK involvement. The Kaplan–Meier method and log-rank test were then used to assess the effect of MSK involvement on survival outcomes. Results Of 1042 childhood leukemia cases, 81 (7.8%) children had MSK involvement at initial presentation. MSK involvement was more likely in children with acute lymphoblastic leukemia than acute myeloid leukemia (p < 0.05). Hematologic abnormalities were less frequent in the MSK involvement group (p < 0.05). The absence of peripheral blast cells was significantly higher in the MSK involvement group (17.3% vs 9.6%, p = 0.04). Normal complete blood counts with absence of peripheral blast cells were found 2.5% of the children with MSK involvement. By propensity score-matching for comparable risk groups of children with and without MSK involvement, the 5-year overall survival was not significantly different (48.2% vs 57.4%, respectively, p = 0.22), nor was event-free survival (43.3% vs 51.8%, respectively, p = 0.31). Conclusion Childhood leukemia with MSK involvement had the characteristics of minimal or absent hematologic abnormalities and peripheral blast counts.

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Background:The outcomes of relapsed childhood acute lymphoblastic leukemia (ALL) in developed countries have improved over time as a result of risk-adapted, minimal residual disease-directed therapy, hematopoietic stem cell transplantation, and immunotherapy. There are few studies that have examined survival in relapsed childhood ALL in resource-limited countries. Therefore, this study aimed to assess the prognostic factors and survival outcome of relapsed childhood ALL in a major tertiary center in Southern Thailand. Methods: The medical records of patients with ALL aged <15 years between January 2000 and December 2019 were retrospectively reviewed. The Kaplan-Meier method was used to depict the overall survival (OS). Results: A total of 472 patients with ALL were enrolled and relapsed ALL was found in 155 (32.8%) patients. Of these, 131 (84.5%) and 24 (15.5%) had B-cell and T-cell phenotypes, respectively. One hundred thirteen (72.9%) and 42 (27.1%) patients had early and late relapses, respectively. The most common site of relapse was bone marrow in 102 patients (65.8%). One hundred twenty-eight (82.6%) patients received treatment while 27 (17.4%) patients refused treatment. The 5-year OS of all relapsed patients was 11.9%. The 5-year OS among the patients with early relapse was significantly lower than in the patients with late relapse (5.3% vs. 29.1%, respectively, p <0.0001). Site and immunophenotype were not associated with survival of relapsed ALL. The median survival times among the patients who received and refused relapse chemotherapy were 11.8 and 3.1 months, respectively (p <0.0001). Conclusion: The relapse rate accounted for one third of patients with ALL with the 5-year OS of 12%. Early relapse and those who refused treatment were associated with poor survival outcome.

Background: Few studies have examined survival outcomes in relapsed childhood acute myeloid leukemia (AML) in resource-limited countries. This study aimed to evaluate the prognostic factors and survival outcomes of relapsed childhood AML in Thailand. Methods: The medical records of AML patients aged 0-15 years treated in a major tertiary center in Southern Thailand between December 1979 and December 2019 were reviewed retrospectively. The overall survival (OS) was calculated using the Kaplan-Meier method. Results: A total of 316 AML patients were included and relapse occurred in 98 (31%) patients. Of these, 57 (58.2%) and 41 (41.8%) patients had early [≤1 year from first complete remission (CR1)] and late (>1 year from CR1) relapses, respectively. Only 54 (55.1%) patients received chemotherapy after relapse. The 3-year OS of all relapsed patients was 3.5%. The 3-year OS of patients with early and late relapse were 0% and 8.5%, respectively (p=0.002). The 3-year OS of patients who received chemotherapy and those who did not were 6.5% and 0%, respectively (p <0.0001). The median survival time of patients who did not receive chemotherapy was 1.7 months. The 3-year OS of patients who achieved second complete remission (CR2) and those who did not were 12.6% and 0%, respectively (p <0.001). Conclusion: The relapsed AML rate was 31% and the survival outcome was poor with a 3-year OS of 3.5%. The adverse prognostic factors were early relapse, failure to achieve CR2 and those who did not receive chemotherapy after relapse.

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