A pregnant woman with thymoma-associated pure red cell aplasia.

Background: Pure red cell aplasia (PRCA) is a hematological disorder characterized by anemia with severe reticulocytopenia caused by a marked reduction in erythroid precursors in the bone marrow. PRCA is known to be associated with pregnancy, but thymoma-associated PRCA during pregnancy is very rare, and its successful management has not been reported.

Case Presentation: A 37-year-old primiparous woman with severe anemia was referred to our center at 27 weeks' gestation.

[Dislodgement of a long-term inserted catheter from the connecting parts of an implantable central venous port in a child with hemophilia].

A central venous access device (CVAD) was implanted in a child with hemophilia for long-term replacement therapy with factor VIII. Four years and eight months after its insertion, malfunction was observed. Further study revealed migration of the transected catheter to both the pulmonary arteries.

Favorable prognosis of vaccine-associated immune thrombocytopenia in children is correlated with young age at vaccination: Retrospective survey of a nationwide disease registry.

Childhood vaccine-associated immune thrombocytopenia (ITP) has a mostly favorable prognosis. To identify factors associated with prognosis, a retrospective survey was conducted with children with ITP who were registered in the Japanese Society of Pediatric Hematology/Oncology registry from 2008 to 2011. A total of 477 patients were categorized into four groups by event preceding ITP onset: vaccine-precedence (VP; n = 43), vaccine/infection-precedence (VIP; n = 34), infection-precedence (IP; n = 162), and no vaccine/infection-precedence (NVI; n = 238).

Lupus anticoagulant hypoprothrombinemia syndrome associated with bilateral adrenal haemorrhage in a child: early diagnosis and intervention.

Background: Lupus anticoagulant-hypoprothrombinemia syndrome (LAHPS) is characterized by bleeding and thrombosis in patients with autoimmune diseases or infections. Paediatric LAHPS exhibits various degrees of bleeding, ranging from mild to severe; however, adrenal haemorrhage due to LAHPS and its long-term clinical course have not been sufficiently described.

Case Presentation: A 9-year-old boy presented with prolonged abdominal pain and abnormal coagulation screening tests.

Clinical Prognostic Factors in Pediatric Patients With Orthostatic Intolerance.

Midodrine is widely used for orthostatic intolerance (OI); however, little is known about the prognostic factors of OI after midodrine treatment. We retrospectively reviewed electronic medical charts to investigate clinical prognostic factors of OI on 159 OI patients aged 7 to 18 years who were treated with midodrine at a children's hospital. Logistic regression was conducted to clarify predictors for improving symptoms at the first month of the treatment.

[Successful treatment by switching from activated prothrombin complex concentrate to emicizumab therapy in a hemophilia A patient with inhibitors].

A 7-month-old male infant with severe hemophilia A who received on-demand therapy with recombinant factor VIII (rFVIII) vomited because of acute intracranial bleeding. With rFVIII treatment for suppressing bleeding, there was development of high-titer (≤673 BU/ml) inhibitors. The patient was administered bypassing agents followed by immune tolerance induction therapy (ITI) with 50 U/kg of FVIII thrice weekly.

Successful Umbilical Cord Blood Transplantation With Reduced-intensity Conditioning for Acute Myeloid Leukemia in a Child With Shwachman-Diamond Syndrome.

Outcomes of patients with Shwachman-Diamond syndrome (SDS) who developed myeloid malignancies are poor because of refractory disease and high hematopoietic stem cell transplantation-related mortality. We herein report a case of a 7-year-old girl with SDS who developed acute myeloid leukemia with monosomy 7. She was successfully treated with chemotherapy followed by unrelated cord blood transplantation with reduced-intensity conditioning consisting of fludarabine, melphalan, and high-dose cytarabine without significant toxicity.

A Japanese Family with the Unstable Hb Sydney (: c.203T>C) Variant and Persistent Low Hemoglobin Oxygen Saturation.

Patients with unstable hemoglobin (Hb), caused by a qualitative abnormality in α- and β-globin genes, are often asymptomatic or mildly symptomatic. It is often difficult to diagnose unstable Hb patients with only mild hemolysis or low oxygen saturation. We herein report a case of a family with an unstable Hb, specifically, Hb Sydney (: c.

Slow Elevation in Protein C Activity without a Mutation in a Neonate with Intracranial Hemorrhage.

Severe protein C (PC) deficiency leads to purpura fulminans and stroke in newborns. However, the clinical impact of plasma PC activity on the development of neonatal cerebral disease remains elusive. We report a case of hemorrhagic stroke associated with neonatal asphyxia and severe PC deficiency.

Acquired idiopathic thrombotic thrombocytopenic purpura successfully treated with intravenous immunoglobulin and glucocorticoid: A case report.

Rationale: Plasma exchange is the principal treatment for acquired thrombotic thrombocytopenic purpura (TTP) but is invasive and may have adverse effects. Reports of immunoglobulin therapy for acquired TTP without plasma exchange are rare.

Patient Concerns: A 14-year-old girl was admitted because of hemolytic anemia and thrombocytopenia.

Pediatric thromboembolism: a national survey in Japan.

Thromboembolism is being detected at increasing rates in pediatric tertiary care hospitals. The incidence of pediatric thrombophilia differs across countries, and is unknown in Japan. We sent a survey to 520 pediatric department heads and 629 specialists, requesting details on patients who developed symptomatic thromboembolism between 2006 and 2010.

Pediatric Thromboembolism in Japan.

Objectives: To investigate the clinical and epidemiologic characteristics of thromboembolism in Japanese children.

Methods: Clinical data of 77 patients with thromboembolism from a national tertiary pediatric care center were reviewed.

Results: Incidence of thromboembolism was calculated to be 15 per 10,000 hospital admissions.

Susceptibility to 6-MP toxicity conferred by a NUDT15 variant in Japanese children with acute lymphoblastic leukaemia.

Genotyping of TPMT prior to 6-mercaptopurine (6-MP) administration in acute lymphoblastic leukaemia (ALL) patients has been integrated into clinical practice in some populations of European ancestry. However, the comparable rates of 6-MP myelotoxicity, but rarity of TPMT variants, in Asians suggest that major determinants have yet to be discovered in this population. We genotyped 92 Japanese paediatric ALL patients for NUDT15 rs116855232, a 6-MP toxicity-related locus discovered in Asians.

Successful living domino liver transplantation in a child with protein C deficiency.

PC is produced in the liver and inhibits blood coagulation by catalyzing active factors V and VIII. PC deficiency causes abnormal blood clotting that is difficult to regulate by anticoagulative treatments. Four reports of PC deficiency treated with LTx have been published; however, no report of DLT as a therapy for PC deficiency is available.

Long-term follow-up of children with refractory immune thrombocytopenia treated with rituximab.

Data on long-term outcomes of children with refractory immune thrombocytopenia (ITP) treated with rituximab are limited. We retrospectively analyzed the long-term effect of rituximab on 22 pediatric ITP patients (11 boys and 11 girls). Compete response (CR) (platelet count ≥100 × 10(9)/L) and partial response (PR) (platelet count 30-99 × 10(9)/L) were achieved in nine (41 %) and two (9 %) patients, respectively.

Pain management during bone marrow aspiration and biopsy in pediatric cancer patients.

Background: The pain associated with bone marrow aspiration and biopsy (BMAB) has an enormous impact on pediatric cancer patients and their families, but no specific reference standards for sedation and analgesia have been developed in Japan. To determine the problems associated with pain management during BMAB, a cross-sectional investigation was conducted.

Methods: A survey was sent in October 2011 to data managers in institutions belonging to the Tokyo Children's Cancer Study Group, addressing the non-pharmacological and pharmacological pain management for BMAB performed on pediatric cancer inpatients between January 2010 and December 2010.

Methylenetetrahydrofolate reductase gene haplotypes affect toxicity during maintenance therapy for childhood acute lymphoblastic leukemia in Japanese patients.

Abstract The aim of this study was to investigate the influence of daily 6-mercaptopurine (6-MP) and low-dose weekly methotrexate (MTX) combination treatment and methylenetetrahydrofolate reductase (MTHFR) haplotypes on toxicity during maintenance therapy in Japanese childhood acute lymphoblastic leukemia (ALL). We retrospectively analyzed the MTHFR C677T and A1298C polymorphisms and influence of haplotypes on toxicity in 73 patients. Patients with the MTHFR 677TT and 677CT + 1298AC were associated with severe liver toxicity (p = 0.

[Successful management of neurosurgical procedures with continuous infusion of recombinant factor IX in a child with hemophilia B].

This report describes the successful management of neurosurgical procedures with continuous infusion of recombinant factor IX (rFIX). A 1-year-old boy with severe hemophilia B was administered prophylactic therapy with rFIX after intracranial bleeding. We found the enlargement of an arachnoid cyst in a follow-up CT scan.

Wiskott-Aldrich syndrome presenting with a clinical picture mimicking juvenile myelomonocytic leukaemia.

Background: Wiskott-Aldrich syndrome (WAS) is a rare X-linked immunodeficiency caused by defects of the WAS protein (WASP) gene. Patients with WAS typically demonstrate micro-thrombocytopenia.

Procedures: The report describes seven male infants with WAS that initially presented with leukocytosis, monocytosis, and myeloid and erythroid precursors in the peripheral blood (PB) and dysplasia in the bone marrow (BM), which was initially indistinguishable from juvenile myelomonocytic leukaemia (JMML).

Methylation of the RASSF1A promoter is predictive of poor outcome among patients with Wilms tumor.

Background: Wilms tumor (WT) has a survival rate of 90% following multimodality therapy. Nevertheless, there are some groups of patients with event-free survival rates less than 75%. In addition to clinical prognostic factors, loss of heterozygosity at 1p and/or 16q has been used to determine treatment intensity.

Different incidences of epigenetic but not genetic abnormalities between Wilms tumors in Japanese and Caucasian children.

Epidemiological studies show that the incidence of Wilms tumor (WT) in East-Asian children is half of that in Caucasian children. Abnormalities of WT1, CTNNB1, WTX, and IGF2 were reported to be involved in Wilms tumorigenesis in Caucasians, although none of the studies simultaneously evaluated the four genes. WTX forms the β-catenin degradation complex; however, the relationship between WTX abnormality and CTNNB1 mutation was uncertain in WTs.