Language：English   Publishing type：Research paper (scientific journal)  

AMeD syndrome is characterized by aplastic anemia, mental retardation, short stature, and microcephaly and is caused by digenic mutations in the aldehyde dehydrogenase 2 (ALDH2) and alcohol dehydrogenase 5 (ADH5) genes. We have successfully performed hematopoietic stem cell transplantation in two patients with AMeD syndrome and isochromosome 1q. AMeD syndrome with myelodysplastic syndrome or acute myeloblastic leukemia generally has a poor prognosis; however, early diagnosis may improve treatment response. Although the gain of 1q has been considered as a form of early clonal evolution in Fanconi anemia, it may be an equally important finding observed in AMeD syndrome.

DOI： 10.1016/j.lrr.2024.100476

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Language：English   Publisher：(一社)日本血液学会  

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Language：English   Publisher：(一社)日本血液学会  

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Language：English   Publisher：(一社)日本血液学会  

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Language：Japanese   Publisher：(公社)日本小児科学会  

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Language：Japanese   Publisher：(一社)日本血液学会-東京事務局  

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Language：Japanese   Publisher：(一社)日本小児血液・がん学会  

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Language：English   Publishing type：Research paper (scientific journal)  

Background. Staphylococcus lugdunensis is one of the clinically important coagulase-negative staphylococci. The purpose of this study was to elucidate the microbiological features of S. lugdunensis in hospitalized children. Methods. From January 2012 to December 2019, all isolates were retrospectively screened for S. lugdunensis. Results. Twenty-five children were eligible for study. Nineteen and six children were classified into a critical care unit group (Group A) and a general medical ward group (Group B), respectively. The prevalence of methicillin-resistant S. lugdunensis was significantly higher in Group A than in Group B (68.4% vs 0%; P < .01). Eleven children (44%) had S. lugdunensis infections, while the remaining children were colonized. Six of the 11 infected children (55%) had healthcare-associated infections. Moreover, 3 isolates exhibited the methicillin resistance. Conclusions. The bacteriological characteristics of S. lugdunensis differ depending on patient background. Selection of antibiotic treatment should in part rely on patient background data.

DOI： 10.1177/2333794X211044796

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Language：Japanese   Publisher：(一社)日本小児血液・がん学会  

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Language：Japanese   Publisher：Japan Society of Perinatal and Neonatal Medicine  

<p> Cardiac tumors are rare during childhood. The most common cardiac tumor in infants and in children is rhabdomyoma accounting for up to 64％ of all pediatric cardiac tumors. Cardiac rhabdomyoma is often asymptomatic and spontaneous regression is frequently observed. On the other hand, cardiac dysfunction, outflow obstruction and arrhythmia has been reported, resulting in sudden death in some cases. The principal therapy of cardiac rhabdomyoma is symptomatic treatment, although surgical intervention could be a choice for cases with severe symptoms. Recently mTOR inhibitor such as everolimus became available for cardiac rhabdomyoma and is reported to be effective especially in the treatment during fetal to neonatal periods.</p><p> We report a case diagnosed as cardiac rhabdomyoma by fetal echography at 34-week of gestation. The tumor size was around 3.0cm² showing a left ventricular obstruction. As the risk of sudden death is considered to be high because ventricular premature contraction rapidly increased, treatment with everolimus was introduced from the day of birth. As a result, the tumor size reduced from 3.0cm² to 1.4cm² at 14th day following administration, resulting in disappearance of ventricular premature contraction. Administration of everolimus was ceased at 32-day old. Thereafter, the tumor has increased slightly but no symptoms of obstruction of left ventricular out flow tract have been observed. To provide early and appropriate treatment intervention, careful follow up of cardiac function and arrhythmia from pre-natal period is essential.</p>

DOI： 10.34456/jjspnm.56.1_148

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Language：Japanese   Publisher：(一社)日本小児血液・がん学会  

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Language：Japanese   Publisher：(一社)日本小児血液・がん学会  

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Language：Japanese   Publisher：(一社)日本小児血液・がん学会  

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Language：Japanese   Publisher：(一社)日本小児血液・がん学会  

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Language：Japanese   Publisher：(一社)日本小児血液・がん学会  

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Language：English   Publishing type：Research paper (scientific journal)  

Cell-free DNA (cfDNA), which are small DNA fragments in blood derived from dead cells including tumor cells, could serve as useful biomarkers and provide valuable genetic information about the tumors. cfDNA is now used for the genetic analysis of several types of cancers, as a surrogate for tumor biopsy, designated as "liquid biopsy." Rhabdomyosarcoma (RMS), the most frequent soft tissue tumor in childhood, can arise in any part of the body, and radiological imaging is the only available method for estimating the tumor burden, because no useful specific biological markers are present in the blood. Because tumor volume is one of the determinants of treatment response and outcome, early detection at diagnosis as well as relapse is essential for improving the treatment outcome. A 15-year-old male patient was diagnosed with alveolar RMS of prostate origin with bone marrow invasion. The PAX3-FOXO1 fusion was identified in the tumor cells in the bone marrow. After the diagnosis, cfDNA was serially collected to detect the PAX3-FOXO1 fusion sequence as a tumor marker. cfDNA could be an appropriate source for detecting the fusion gene; assays using cfDNA have proved to be useful for the early detection of tumor progression/recurrence. Additionally, the fusion gene dosage estimated by quantitative polymerase chain reaction reflected the tumor volume during the course of the treatment. We suggest that for fusion gene-positive RMSs, and other soft tissue tumors, the fusion sequence should be used for monitoring the tumor burden in the body to determine the diagnosis and treatment options for the patients.

DOI： 10.1002/gcc.22734

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Language：English  

We evaluated the efficacy of linezolid treatment in 6 children with health care-associated meningitis or ventriculitis (HCAMV) caused by gram-positive cocci. All children were diagnosed and treated at the Ehime University Hospital between January 2010 and December 2017. Of these, 5 were treated with linezolid as an empirical therapy. In these 5 patients, vancomycin was initially used but was changed to linezolid because of cerebrospinal fluid (CSF) culture positivity (n = 3) and a high minimum inhibitory concentration of vancomycin (n = 2). The most common HCAMV pathogens were methicillin-resistant coagulase-negative staphylococci (n = 3). In 3 patients, vancomycin concentration was low in CSF but reached the target concentration in serum, while linezolid concentration was high in both CSF and serum. HCAMV treatment using antimicrobial agents with poor CSF penetration may increase the likelihood of therapy failure. Linezolid is more susceptible as the first-line treatment for HCAMV compared with vancomycin.

DOI： 10.1177/0009922818803399

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Language：Japanese   Publisher：(株)日本小児医事出版社  

【緒言】肋骨骨髄炎は全骨髄炎の中で約1%と非常に稀であり、骨成長期に多く発症するとされている。【症例】生来健康な5歳男児。1ヵ月前から左側胸部痛が出現し、左第6肋骨に腫瘤を触知した。血液検査でWBC 7,700/μL(Neutro 58.5%)、CRP 3.87mg/dLと炎症反応の上昇を認めた。胸部CT検査で左第6肋骨に骨融解を伴う軟部腫瘤影、MRI T1強調画像でlow intensity、T2強調画像でhigh intensityを示す13mm×14mm×15mmの腫瘤を認めた。切開生検術を施行し、病理検査、細菌検査結果からStaphylococcus aureus(MSSA)による左第6肋骨骨髄炎と診断した。掻爬術と合計6週間の抗菌薬治療により治癒した。【結語】肋骨骨髄炎では、発熱といった全身症状がなく局所症状のみの症例も存在することから、小児の肋骨部腫瘤では鑑別すべき疾患の一つと考えられる。(著者抄録)

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DOI： 10.1002/ccr3.1506

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Language：English   Publishing type：Research paper (scientific journal)   Publisher：WILEY  

BackgroundChildhood cancer survivors' (CCSs') readiness for adult care has not been evaluated in Japan. We conducted a survey to examine transition barriers and facilitators in CCSs and compared the results with those of CCSs in Canada.
MethodsParticipants were selected from the Heart Link mutual-aid health insurance membership directory and the Millefeuille Childhood Cancer Frontiers. We conducted a cross-sectional survey (self-report questionnaire) via mail, using the Transition Scales.
ResultsIn total, 268 questionnaires were collected by January 2016 (response rate, 42.5%). After confirming the reliability and validity of the Transition Scales, we analyzed 242 questionnaires. After excluding questionnaires for CCSs younger than 15 or older than 26years, we compared scales scores between Japanese and Canadian CCSs. Relative to that of Japanese CCSs, Canadian CCSs showed greater cancer-related worry for 4 items (P&lt;.001) and preference for self-management in 3 items (P&lt;.001). Japanese CCSs showed greater preference for self-management, relative to that of Canadian CCSs, in 5 items (P&lt;.001). In the expectation scale, Japanese CCSs showed lower levels of expectation concerning adult care in 6 of 12 items (P&lt;.001). Relative to that of Canadian CCSs, a significantly higher number of Japanese CCSs preferred to visit the same doctor for long-term care as adults (P&lt;.001).
ConclusionsThe results confirmed the reliability and validity of the Transition Scales and showed that Japanese CCSs expressed fewer cancer concerns, but a higher number of Japanese CCSs preferred to visit the same doctor for long-term care as adults.

DOI： 10.1002/pon.4276

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Language：Japanese   Publisher：The Japanese Society of Pediatric Hematology / Oncology  

<p>Despite the improved outcome of Ph-positive acute lymphoblastic leukemia (Ph+ ALL) with tyrosine kinase inhibitors in children, side effects and complications of treatment are still major concerns. In this report, we describe the case of a 13-year-old boy who was diagnosed as having Ph+ ALL and treated with chemotherapy including imatinib. He developed febrile neutropenia on day 14 after the re-induction therapy. An antibiotic agent was immediately administered to the patient, but septic shock and, following acute renal failure, intestinal edema and acute respiratory distress syndrome progressed. He died on day 62. Autopsy findings showed that the cause of death was multiple organ failure from septic shock. <i>E. coli </i>was detected in his blood culture. The mechanism of sepsis was considered as a bacterial translocation from his intestine. These findings show that the immediate use of antibiotics in the case of prolonged febrile neutropenia is recommended, because bacterial translocation will be induced by the imatinib-containing chemotherapy in Ph+ ALL patients.</p>

DOI： 10.11412/jspho.54.15

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Language：English   Publishing type：Research paper (scientific journal)   Publisher：LIPPINCOTT WILLIAMS & WILKINS  

Background:Myeloid/NK cell precursor acute leukemia (MNKL) is a rare type of leukemia, and ocular complications have not previously been reported. We now report a patient with MNKL who developed intraocular infiltrates during follow-up.Methods and Results:A 13-year-old boy diagnosed with MNKL developed left eye pain 3 months after starting treatment. Examination of the left eye revealed a visual acuity of counting fingers at 20cm, ciliary hyperemia, small corneal keratic precipitates, hypopyon, grade 4 vitreous opacities, and an obscured fundus. The differential diagnosis was between an opportunistic infection associated with immunodeficiency and an intraocular leukemic cell infiltrate. Therefore, a sample of aqueous humor was aspirated. Multiplex PCR/broad-range PCR of the aqueous humor was below detection limits for viruses, bacteria, and fungi. Flow cytometry (FCM) detected NK-related CD56-positive cells, thus leading to a diagnosis of ocular infiltrates due to MNKL. With treatment of the ocular infiltrates by consolidation systemic chemotherapy including intrathecal methotrexate (MTX), there was clearing of the vitreous opacities; and optic disc swelling, retinal hemorrhages, exudates, and protuberant lesions were now seen. With the addition of local radiation therapy to the eye, there was a dramatic treatment response, with regression of the optic disc findings and retinal lesions, and an improved visual acuity of 1.5.Conclusion:We encountered the first case of MNKL in which ocular infiltrates developed during follow-up. Multiplex PCR and FCM of the aqueous humor were useful in rapidly distinguishing leukemic cell infiltrates from an opportunistic infection. This case highlights the usefulness of intrathecal MTX and local radiotherapy in treating ocular infiltrates in patients with MNKL.

DOI： 10.1097/MD.0000000000004967

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Language：Japanese   Publishing type：Research paper (scientific journal)   Publisher：文光堂  

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Language：English   Publishing type：Research paper (scientific journal)   Publisher：LIPPINCOTT WILLIAMS & WILKINS  

Outcome of children with acute lymphoblastic leukemia (ALL) has improved over the years, but not for those with multiple recurrences because of high therapy resistance and heavily pretreated history that potentially cause physical damages. We describe the case of an 11-year-old boy with a third relapse of ALL and a history of 2 allogeneic bone marrow transplantations. He was successfully treated with clofarabine combination chemotherapy and achieved a fourth remission at 16 months following haploidentical bone marrow transplantation with conditioning regimen of clofarabine and busulfan. Clofarabine/busulfan conditioning might be a preferable option for children with multiple recurrent ALL, and warrants further investigation.

DOI： 10.1097/MPH.0000000000000454

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Language：English   Publishing type：Research paper (scientific journal)   Publisher：Lippincott Williams and Wilkins  

Background: Myeloid/NK cell precursor acute leukemia (MNKL) is a rare type of leukemia, and ocular complications have not previously been reported. We now report a patient with MNKL who developed intraocular infiltrates during follow-up. Methods and Results: A 13-year-old boy diagnosed with MNKL developed left eye pain 3 months after starting treatment. Examination of the left eye revealed a visual acuity of counting fingers at 20cm, ciliary hyperemia, small corneal keratic precipitates, hypopyon, grade 4 vitreous opacities, and an obscured fundus. The differential diagnosis was between an opportunistic infection associated with immunodeficiency and an intraocular leukemic cell infiltrate. Therefore, a sample of aqueous humor was aspirated. Multiplex PCR/broad-range PCR of the aqueous humor was below detection limits for viruses, bacteria, and fungi. Flow cytometry (FCM) detectedNK-relatedCD56-positivecells,thusleadingtoadiagnosisofocularinfiltratesduetoMNKL.Withtreatmentoftheocularinfiltrates by consolidation systemic chemotherapy including intrathecal methotrexate (MTX), there was clearing of the vitreous opacities
and optic discswelling,retinalhemorrhages,exudates,andprotuberantlesionswerenowseen.Withtheadditionoflocalradiationtherapytotheeye, there was a dramatic treatment response, with regression of the optic disc findings and retinal lesions,and an improved visual acuity of 1.5.

DOI： 10.1097/MD.0000000000004967

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Language：English   Publisher：(一社)日本小児血液・がん学会  

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Language：English   Publishing type：Research paper (scientific journal)   Publisher：WILEY-BLACKWELL  

Infantile hemangioma (IH) is the most common tumor of infancy, and it sometimes associated with Kasabach-Meritt syndrome (KMS) characterized by anemia, intraperitoneal hemorrhage secondary to rupture, coagulopathy, jaundice, and vascular malformations involving the brain, skin, gut, and other organs. Here, we report two newborn patients having IH with KMS at birth. The first patient had a giant hemangioma in the liver, which was successfully treated with i.v. corticosteroid and coil embolization. The second patient had a large hemangioma of the right axillary region, which was also successfully treated with i.v. corticosteroid, beta-blocker, coil embolization and local irradiation. All symptoms were controlled without any side-effects in both patients. According to these findings, combination therapy including coil embolization and corticosteroid is effective for IH patients with KMS. The indications for and timing of coil embolization should be determined further cases have been accumulated.

DOI： 10.1111/ped.12618

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Language：Japanese   Publisher：(一社)日本てんかん学会  

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Language：English   Publishing type：Research paper (scientific journal)   Publisher：WILEY-BLACKWELL  

BackgroundSerum procalcitonin (PCT) increases in various respiratory disorders such as acute respiratory distress syndrome. Elevated PCT is also observed in healthy neonates. In this study, we investigated whether PCT is a good marker of respiratory disorder in neonates.
MethodsA total of 155 neonates with or without respiratory disorder, were eligible for the study. PCT was measured on electrochemiluminescence immunoassay. Each neonate was allocated to the non-respiratory disorder (control) group (n = 95), or a respiratory disorder group (n = 60). PCT was compared between the groups, and association with other markers, including C-reactive protein (CRP) and white blood cell (WBC) count, was analyzed.
ResultsOf the 60 neonates in the respiratory disorder group, 39, 10, five, one, two, two, and one neonates had transient tachypnea of the newborn, respiratory distress syndrome, air leak syndrome, meconium aspiration syndrome, 18-trisomy, neonatal asphyxia, and congenital diaphragmatic hernia, respectively. Mean PCT, CRP and WBC count in the respiratory disorder group were 9.01ng/mL, 0.26mg/dL, and 16100 cells/L, respectively. The area under the curve obtained for PCT in distinguishing between the respiratory disorder and control groups was 0.85 (sensitivity, 66.7%; specificity, 93.0%; optimum cut-off, 3.73ng/mL), that for CRP was 0.72 (sensitivity, 75.0%; specificity, 64.6%; optimum cut-off, 0.14mg/dL), and for WBC it was 0.44 (sensitivity, 60.0%; specificity, 29.6%; optimum cut-off, 15000cells/L).
ConclusionsPCT is more susceptible, as a diagnostic parameter of infection, to the effect of respiratory disturbance than CRP and WBC.

DOI： 10.1111/ped.12505

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Language：English   Publishing type：Research paper (scientific journal)   Publisher：WILEY-BLACKWELL  

We encountered a case of neonatal acute megakaryoblastic leukemia not associated with Down syndrome (DS). Molecular cytogenetic analysis of leukemic blast cells indicated that increased blast cell status was caused by transient abnormal myelopoiesis with trisomy 21 and GATA1 mutation. Based on these molecular cytogenetic data, intensive chemotherapy was avoided, and the patient was successfully cured with low-dose cytarabine. Morphologically, leukemic blast cells of acute megakaryoblastic leukemia in a non-DS neonate are indistinguishable from a blast cell of transient abnormal myelopoiesis. The possibility of transient abnormal myelopoiesis should be carefully considered before intensive chemotherapy is adopted.

DOI： 10.1111/ped.12500

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Other Link： http://orcid.org/0000-0003-1520-7007

Language：Japanese   Publisher：(一社)日本小児血液・がん学会  

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Language：Japanese   Publisher：(一社)日本てんかん学会  

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Language：English   Publishing type：Research paper (scientific journal)   Publisher：NATURE PUBLISHING GROUP  

Hematopoietic cell transplantation (HCT) is used for treatment of hematopoietic diseases. Assessment of T-and B-cell reconstitution after HCT is crucial because poor immune recovery has a major effect on the clinical course. In this study, we retrospectively analyzed T-cell receptor excision circles (TRECs) as well as signal and coding joint kappa-deleting recombination excision circles (sjKRECs and cjKRECs, respectively) as markers of newly produced lymphocytes in 133 patients (56 primary immunodeficient and 77 malignant cases, median (range): 12 (0-62) years old). We analyzed the kinetics of TREC and KREC recovery and determined the factors that contributed to better immune recovery. KRECs became positive earlier than TRECs and increased thereafter. Younger recipient age had a favorable effect on recovery of sjKRECs and cjKRECs. Compared with BM and peripheral blood, our data suggested that cord blood (CB) provided rapid B-cell recovery. CB also provided better B-cell neogenesis in adult HCT recipients. Chronic GVHD was associated with low TRECs, but not increased sjKRECs/cjKRECs. Finally, positive sjKRECs 1 month after HCT were associated with fewer infectious episodes. Monitoring of TRECs and KRECs may serve as a useful tool for assessment of immune reconstitution post HCT.

DOI： 10.1038/bmt.2014.123

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Language：English   Publisher：(一社)日本血液学会  

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Language：English   Publisher：(一社)日本血液学会  

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Language：English   Publisher：(一社)日本血液学会  

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Language：Japanese   Publisher：(公社)日本小児科学会  

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Language：Japanese   Publisher：(一社)日本小児血液・がん学会  

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Language：Japanese   Publisher：(一社)日本小児血液・がん学会  

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Language：Japanese   Publisher：(公社)日本薬学会  

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Language：Japanese   Publisher：(一社)日本小児感染症学会  

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Language：Japanese   Publisher：(一社)日本小児血液・がん学会  

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Language：English   Publisher：(一社)日本癌学会  

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Language：Japanese   Publisher：(一社)日本小児血液・がん学会  

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Language：Japanese   Publisher：The Japanese Society of Pediatric Hematology / Oncology  

A 3-year-old boy with B-precursor acute lymphoblastic leukemia developed pulmonary artery thromboembolism (PTE) during the reinduction phase. We had used a peripherally inserted central catheter (PICC) for 6 months since the start of the induction therapy. An increase in D-dimer concentration and thrombotic blockade of the PICC were observed before PTE development. After intravenous administration of unfractionated heparin followed by the removal of the PICC, his clinical symptoms improved in two weeks with warfarin. We reinserted a PICC before the second reinduction phase with warfarin, we continued his subsequent planned chemotherapy without the recurrence of thromboembolism. His clinical course suggests that PTE was caused by PICC-related thrombosis. We should pay careful attention to central venous catheter selection, insertion sites, and long-term management because of the high incidence of thromboembolism associated with PICC use.

DOI： 10.11412/jspho.56.46

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Language：Japanese   Publisher：The Japanese Society of Pediatric Hematology / Oncology  

Background: We conducted a survey of Japanese childhood cancer survivors (CCSs) to determine their readiness for long-term care as adults and their familiarity of the tools for long-term follow-up. Methods: The participants were selected from the membership directory of Heart Link mutual-aid health insurance and the Millefeuille Childhood Cancer Frontiers. We conducted a cross-sectional survey (a self-rated questionnaire) via postal mail. Results: We analyzed 242 completed questionnaires from 132 males and 110 females with a median age of 26 years (from 12 to 47 years). More than half of the CCSs answered “fair or enough understanding” of the explanation of their cancer and their cancer stage/risk, 31% of the CCSs gave the same answer for their risk of late effects, and 45 and 49% answered the same for warning points in daily life and situations in which they need to contact their physicians, respectively. On the other hand, half of the CCSs could not list the names of the anticancer drugs administered to them and 80% did not know the total dose of each drug. Forty-three percent of the CCSs answered “fair or enough understanding” of treatment summary, 18% for the FU diary, and 13% for Japanese long-term FU guidelines. Younger age at onset/childhood solid cancers (some of which were blastoma) and subjective good health state at survey were negatively associated with their familiarity, and high educational achievement (university/graduate school) was positively associated with their familiarity. Conclusions: Familiarity of the tools for long-term follow-up was unexpectedly low in Japan. Special consideration was needed for CCSs with younger age at onset and low educational achievement.

DOI： 10.11412/jspho.53.436

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Language：Japanese   Publisher：(一社)日本小児神経学会  

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Language：Japanese   Publisher：(一社)日本小児血液・がん学会  

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Language：Japanese   Publisher：(公社)日本小児科学会  

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Language：Japanese   Publisher：(公社)日本小児科学会  

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Language：Japanese  

J-GLOBAL

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