Pontine Primitive Neuroectodermal Tumor With Spinal Metastasis in a 10-year-old Girl

AbstractBrain tumors are the most common type of solid cancer in children. Approximately 20% of pediatric brain tumors originate from the brain stem, and most are comprised of gliomas. However, metastasis of brain stem gliomas along the neuraxis is rare. Brain stem primitive neuroectodermal tumors (PNETs) are also rare and are prone to leptomeningeal metastasis. We describe here a 10-year-old girl with a pontine tumor. Initially, she was diagnosed with a glioma because of the clinical presentation, but later pathology of a metastatic tumor in the spinal cord showed PNET. The tumor response to radiotherapy was poor and she died 6 months after diagnosis. Since biopsy of brain stem tumors is not always feasible, diagnoses other than glioma should be considered if the patient's clinical presentation is unusual

Is the Benefit–Risk Ratio for Patients with Transfusion-Dependent Thalassemia Treated by Unrelated Cord Blood Transplantation Favorable?

Transfusion-dependent thalassemia (TDT) is an inherited disorder characterized by absent or defective production of α- or β-hemoglobin chains. If untreated, the disease invariably culminates in death in early infancy due to cardiac failure or overwhelming infection. Although there is clear evidence of good health-related quality of life and return to normal life style, the choice to undergo hematopoietic stem cell transplantation (HSCT) remains a challenge because of the potential risk of transplant-related mortality (TRM) in TDT. Successful hematopoietic stem cell transplantation may cure the hematological manifestations of TDT, but introduces risks of TRM and morbidity. The low incidence of graft-versus-host disease (GVHD) provides the major rationale for pursuing unrelated cord blood transplantation (CBT). Considerable evidence suggests a lower rate of recurrence after CBT than after transplantation from adult donors. As the TRM, overall survival, and thalassemia-free survival for CBT improve, the utility of this stem cell source will expand to indications that have hitherto rarely used unrelated CBT. This paper summarizes the current progress in understanding the advances in unrelated CBT for thalassemia. Although as yet only in a limited number of patients, the results of unrelated CBT for thalassemia are encouraging

單次口服granisetron和多次靜 脈ondansetron對急性淋巴性白血病病童中度嘔吐成效之研究

This prospective study was designed to compare the efficacy of ondansetron with granisetron in terms of complete emesis control and time spent in an ambulatory care setting in children with acute lymphoblastic leukemia (ALL) undergoing moderately emetogenic cyclophosphamide-based chemotherapy. The costs for both treatments are also examined. A total of 33 children (mean age: 7.8 ± 4.9 year) were studied during 66 chemotherapy cycles. Analysis was based on 33 courses of a single oral dose of granisetron and 33 courses of ondansetron incorporating 2 intravenous doses of ondansetron 0.15 mg/kg followed by 1 dose of the same dosage orally. There was no significant difference between the 2 treatments in terms of overall efficacy (McNemar's chi-square test). Twenty of 33 patients (60.6%) receiving granisetron and 15 of 33 patients (45.5%) receiving ondansetron experienced no emesis 24 h after chemotherapy (p = .227). Boys experienced greater rates of vomiting than did girls despite antiemetic treatment; however, no apparent reason for the gender discrepancy was noted. Both antiemetic regimens have similar antiemetic efficacy for treating the moderately emetogenic effects associated with cyclophosphamide-based chemotherapy. It is possible that the granisetron regimen may be preferable because it is simpler to administer and more cost -effective. [ABSTRACT FROM AUTHOR

Salmonella Septic Arthritis Involving Multiple Joints in a Girl with Acute Lymphoblastic Leukemia at Diagnosis

Septic arthritis due to Salmonella has been reported frequently, but multiple joint involvements have rarely been reported in children. A 3-year-old girl presented with Salmonella arthritis involving multiple joints. Laboratory investigations revealed pancytopenia inconsistent with diagnosis of juvenile rheumatoid arthritis or septic arthritis. Bone marrow examination 2 weeks later confirmed the diagnosis of acute lymphoblastic leukemia (ALL). Immunophenotyping studies were consistent with a diagnosis of pre-B ALL. This case illustrates that a delay in the diagnosis may occur when there is an apparent infection focus without classic features of leukemia. Multiple joints involvement of septic arthritis associated with pancytopenia should highlight the possibility of underlying hematologic disorders

Novel Mutations of the Tetratricopeptide Repeat Domain 7A Gene and Phenotype/Genotype Comparison

The gastrointestinal tract contains the largest lymphoid organ to react with pathogenic microorganisms and suppress excess inflammation. Patients with primary immunodeficiency diseases (PIDs) can suffer from refractory diarrhea. In this study, we present two siblings who began to suffer from refractory diarrhea with a poor response to aggressive antibiotic and immunosuppressive treatment after surgical release of neonatal intestinal obstruction. Their lymphocyte proliferation was low, but superoxide production and IL-10 signaling were normal. Candidate genetic approach targeted to genes involved in PIDs with inflammatory bowel disease (IBD)-like manifestation was unrevealing. Whole-genome sequencing revealed novel heterozygous mutations Glu75Lys and nucleotide 520–521 CT deletion in the tetratricopeptide repeat domain 7A (TTC7A) gene. A Medline search identified 49 patients with TTC7A mutations, of whom 20 survived. Their phenotypes included both multiple intestinal atresia (MIA) and combined T and/or B immunodeficiency (CID) in 16, both IBD and CID in 14, isolated MIA in 8, MIA, IBD, and CID complex in 8, and isolated IBD in 3. Of these 98 mutant alleles over-through the coding region clustering on exon 2 (40 alleles), exon 7 (12 alleles), and exon 20 (10 alleles), 2 common hotspot mutations were c.211 G>A (p.E71K in exon 2) in 26 alleles and AAGT deletion in exon 7 (+3) in 10 alleles. Kaplan–Meier analysis showed that those with biallelic missense mutations (p = 0.0168), unaffected tetratricopeptide repeat domains (p = 0.0311), and developing autoimmune disorders (p = 0.001) had a relatively better prognosis. Hematopoietic stem cell transplantation (HSCT) restored immunity and seemed to decrease the frequency of infections; however, refractory diarrhea persisted. Clinical improvement was reported upon intestinal and liver transplantation in a child with CID and MIA of unknown genetic etiology. In conclusion, patients with TTC7A mutations presenting with the very early onset of refractory diarrhea had limit improvement by HSCT or/and tailored immunosuppressive therapy in the absence of suitable intestine donors. We suggest that MIA–CID–IBD disorder caused by TTC7A mutations should also be included in the PID classification of “immunodeficiencies affecting cellular and humoral immunity” to allow for prompt recognition and optimal treatment

A tale of two systems: practice patterns of a single group of emergency medical physicians in Taiwan and China

Abstract Background The quality of pediatric emergency care has been a major concern in health care. Following a series of health system reforms in China, it is important to do this assessment of pediatric emergency care, and to explore potential influences of health care system. This study aimed to compare practice differences in treating children with respiratory illnesses in two emergency department (ED) settings within different health care systems: China and Taiwan. Methods A pooled cross-sectional hospital-based study was conducted in two tertiary teaching hospitals in Xiamen, China and Keelung, Taiwan belong to the same hospital chain group. A team of 21 pediatricians rotated between the EDs of the two hospitals from 2009 to 2012. There were 109,705 ED encounters treated by the same team of pediatricians and 6596 visits were analyzed for common respiratory illnesses. Twelve quality measures in process and outcomes of asthma, bronchiolitis and croup were reported. Descriptive statistics and multiple logistic regression models were applied to assess. In order to demonstrate the robustness of our findings, we analyzed the data using an alternative modeling technique, multilevel modeling. Results After adjustment, children with asthma presented to the ED in China had a significantly 76% lower likelihood to be prescribed a chest radiograph, and a 98% lower likelihood to be prescribed steroids and discharged home than those in Taiwan. Also, children with asthma presented to the ED in China had significantly 7.76 times higher risk to incur 24-72 h return visits. Furthermore, children with bronchiolitis in China (Odds ratio (OR): 0.21; 95% Confidence interval (CI): 0.17-0.28) were significantly less likely to be prescribed chest radiograph, but were significantly more likely to be prescribed antibiotics (OR: 2.19; 95% CI: 1.46-3.28). Conclusions This study illustrated that although high quality care depends on better assessment of physician performance, the delivery of pediatric emergency care differed significantly between these two healthcare systems after holding the care providers the same and adjusting for important patient characteristics. The findings suggest that the features of the health care system may play a significant role