Two Pediatric Cases of Food Protein-Induced Enterocolitis Syndrome to Soy Eaten as an Infant Food.

Food protein-induced enterocolitis syndrome (FPIES) is a non-IgE-mediated food allergy that can be caused not only by infant formula but also by infant food. Herein, we report two pediatric cases of FPIES to solid soy foods, such as tofu. The patients presented with repetitive vomiting after eating the trigger food as infant food. Although both cases promptly recovered following the cessation of the trigger food, one case required rapid intravenous hydration for compensated shock. Both cases were diagnosed with FPIES to soy based on the typical presentation and parental interviews regarding food exposure. One case had a positive response to an oral food challenge for tofu, and both cases were negative for soy-specific IgE. One of our cases did not develop FPIES from fermented soy products despite having soy-triggered FPIES. The fermentation process may reduce the allergenicity of soy, but further evidence is required to confirm this hypothesis. There are various trigger foods for solid food FPIES (SFF), and these differ among countries. Solid food FPIES to soy is more common in Japan than in other countries due to the frequent use of tofu in infant food. Increased international awareness of the possibility of tofu-triggered FPIES may be warranted due to the rising global use of tofu in infant food.

Sensitive detection of GATA1 mutations using complementary DNA-based analysis for transient abnormal myelopoiesis associated with the Down syndrome.

INTRODUCTION: GATA1 mutation plays an important role in initiating transient abnormal myelopoiesis (TAM) and in the clonal evolution towards acute megakaryoblastic leukaemia (AMKL) associated with Down syndrome (DS). This study aimed to develop and validate the clinical utility of a complementary DNA (cDNA) analysis in parallel with the conventional genomic DNA (gDNA) Sanger sequencing (Ss), as an initial screening test for GATA1 mutations. METHODS: GATA1 mutations were evaluated using both gDNA and cDNA in 14 DS patients using Ss and fragment analysis (FA), respectively. RESULTS: The detection sensitivity of conventional gDNA sequencing was limited in low blast percentage TAM (LBP-TAM); however, cDNA-based Ss readily detected all the pathognomonic GATA1 mutations. The cDNA-based FA readily detected GATA1 frameshift mutation with a reliable sensitivity ranging from 0.005% to 0.01% of clonal cells. CONCLUSIONS: GATA1 mutations are heterogeneous; therefore, we would like to propose a dual cDNA and gDNA analysis as a standard diagnostic approach, especially for LBP-TAM. cDNA-based FA promises an excellent sensitivity for detecting frameshift GATA1 mutations in the longitudinal clonal evolution towards AMKL without using a patient specific primer.

Serum ferritin levels as a useful diagnostic marker for the distinction of systemic juvenile idiopathic arthritis and Kawasaki disease.

OBJECTIVES: The clinical features and laboratory parameters of patients with Kawasaki disease (KD) and systemic juvenile idiopathic arthritis (s-JIA) tend to overlap. Furthermore, there have been no definitive biomarkers for these diseases, making clinical diagnosis difficult. The purpose of this study was to investigate the diagnostic value of serum ferritin levels for differentiating KD from s-JIA and predicting the disease severity of KD. METHODS: We analyzed 228 patients with KD and 81 patients with s-JIA. Serum ferritin levels were compared between patients with s-JIA and KD. Furthermore, serum ferritin levels in patients with KD were compared with respect to clinical features such as responsiveness to intravenous immunoglobulin (IVIG) therapy. RESULTS: Serum ferritin levels in KD patients with no response to IVIG therapy were significantly higher than those in KD patients with a good response to IVIG therapy. Serum ferritin levels in patients with KD needing plasma exchange (PE) were significantly higher than those in patients not needing PE. However, serum ferritin levels overlapped between severe KD patients with nonresponsiveness to IVIG therapy or needing PE and other patients with mild KD. Furthermore, patients with s-JIA showed a distinct elevation of serum ferritin levels compared with KD patients. The cutoff value of serum ferritin levels for differentiating KD from s-JIA was 369.6 ng/ml. CONCLUSIONS: Serum ferritin levels were significantly elevated in s-JIA patients compared with KD patients. Measurement of serum ferritin levels can be useful for differentiating s-JIA from KD.

Serum IL-18 as a potential specific marker for differentiating systemic juvenile idiopathic arthritis from incomplete Kawasaki disease.

Clinical features and laboratory parameters in patients with incomplete Kawasaki disease (KD) and systemic juvenile idiopathic arthritis (s-JIA) tend to overlap. Furthermore, there have been no definite biomarkers for these diseases. This situation makes the clinical diagnosis of these patients difficult. In this study, we aimed to measure serum interleukin (IL)-18 and IL-6 levels in patients with s-JIA who were initially diagnosed with incomplete KD and compare these data with those in patients with complete KD and arthritis. Serum IL-18 levels in patients with s-JIA were significantly elevated compared with those in patients with KD and arthritis. Pediatricians should be aware that the presentation of s-JIA can mimic incomplete KD. Because the clinical features overlap, a high index of suspicion is warranted. The measurement of serum IL-18 may be useful for differentiating s-JIA from KD.

Split notochord syndrome with congenital unilateral Horner's sign.

A 2-year-old boy exhibited congenital right Horner's sign and right finger, wrist, and elbow flexion arthrogryposis. He had dyspnea and feeding difficulty 12 hours after birth. Radiologic examination revealed a thoracoabdominal intestinal tube and mediastinal cystic lesion at the right side, with vertebral anomaly at the cervical level. Histopathologically, the intestinal tube was diagnosed as bowel duplication. Because the mediastinal lesion could not be resected surgically, no histopathological diagnosis was made. Embryologically, the combination of transdiaphragmatic duplication, mediastinal cystic lesion, anterior spina bifida, and hemivertebra suggested notochord malformation. The diagnosis was split notochord syndrome, an extremely rare embryological malformation syndrome. Congenital unilateral Horner syndrome often has unknown etiology. In this case, cervical vertebral anomalies and mediastinal cystic lesion implied a compressed nerve root, resulting in Horner syndrome and right finger, wrist, and elbow flexion joint contracture. Split notochord syndrome should be included in differential diagnosis of congenital unilateral Horner syndrome.

[Appropriate use of rapid diagnostic testing for influenza].

To determine a more timely acquisition of accurate results for influenza patients, a rapid diagnostic testing for influenza were studied on 877 pediatric patients performed during the 2002-2003 flu season in our hospital. Of these, 337 patients were finally diagnosed as influenza based on the test results and treated with antiviral agents, amantadine or oseltamivir. Ten (29%) of the 34 patients whose tests were negative within 12 hours after onset became positive over 12 hours after onset. On the other hand, diagnoses based on antigen tests over 12 hours after onset were reliable because all 13 patients first confirmed negative were unchanged when tested afterward. These 10 patients missed the opportunity to take antivirals early, which possibly caused them to have significantly longer (p = 0.0003) febrile duration and higher frequency of admission (p < 0.0001) than the 106 patients first confirmed positive within 12 hours after onset. Days from onset until starting antivirals (mean 1.4 days), the febrile duration (mean 2.7 days) and frequency of hospitalization (20.5%) of the 219 patients who tested positive over 12 hours after onset were significantly worse (p < 0.0001, p < 0.0001 and p = 0.0406, respectively) than those of patients testing positive within 12 hours after onset (mean 0.2 days, mean 1.7 days and 11.3%, respectively). The febrile duration (mean 2.3 days) of the patients confirmed positive even over 12 hours, but within 48 hours, of onset was tolerable but significantly longer (p < 0.0001) than that of patients confirmed positive within 12 hours after onset. The frequency (19.6%) of hospitalization of the patients confirmed positive even over 12 hours, but within 48 hours, of onset was not significantly different from that of patients confirmed positive within 12 hours after onset. These results suggested that over 12 hours but within 48 hours after onset of illness is the best period for the rapid diagnosis to correctly determine whether a patient should be treated with antiviral agents based on the result.