Publications by authors named "Akihiro Iguchi"
Background: Hematopoietic cell transplantation (HCT) is the only curative treatment for chronic active Epstein-Barr virus infection (CAEBV). While HCT is needed at the appropriate time, there are sometimes difficulties in securing an appropriate donor, making HLA haploidentical donor an alternative option. Recently, post-transplant cyclophosphamide (PTCy) has rapidly gained popularity as a safe graft-versus-host disease (GVHD) prevention strategy for HCT from HLA haploidentical donors; however, there are only a few reports of its use for CAEBV.
View Article and Find Full Text PDFBackground: X-linked chronic granulomatous disease (X-CGD) may be associated with McLeod syndrome (MLS) as a contiguous gene deletion syndrome. MLS is characterized by the loss of XK protein along with Kx antigen on red blood cell (RBC) surfaces and late-onset neurocognitive symptoms. RBCs in healthy donors express XK protein and related Kx antigen on the surface; therefore, transfusion from random donors to patients with MLS poses a risk of Kx sensitization, leading to severe hemolysis.
View Article and Find Full Text PDFDiffuse hyperpigmentation is common in patients who undergo chemotherapy or stem cell transplantation (SCT). However, only a few studies have reported the relation between skin reactions and SCT-related complications. Serum 5-S-cysteinyldopa (5SCD), a pheomelanin precursor, is elevated in individuals with hyperpigmentation.
View Article and Find Full Text PDFLow-dose fenfluramine as an effective treatment option for 'atypical' Dravet syndrome.
Epilepsy Behav Rep
September 2024
Article Synopsis
- Dravet syndrome (DS) usually involves severe seizures resistant to treatment, along with intellectual disability, and is often linked to specific genetic mutations and normal MRI results.
- The case study discusses a 14-year-old girl with atypical features of DS, including no genetic mutations, only one seizure episode, and abnormal MRI findings.
- Despite these atypical characteristics, the girl was treated with fenfluramine, which successfully controlled her seizures and led to improvements in her cognitive and functional abilities.
Successful management with urgent haploidentical-peripheral blood stem cell transplantation for a patient with severe aplastic anaemia who developed disseminated fungal infection following immunosuppressive therapy.
EJHaem
October 2024
Article Synopsis
- * It highlights the complexities of performing allogeneic transplants amid active infections, as they typically have poor outcomes.
- * A specific case is presented about a 5-year-old boy with disseminated infection who received granulocyte transfusions from his mother and underwent successful haploidentical stem cell transplantation from his father after immunosuppressive treatment for SAA.
Platelet changes and bleeding symptoms in children, adolescents, and adults with 22q11.2 deletion syndrome.
Pediatr Blood Cancer
November 2024
Article Synopsis
- - The study examined bleeding symptoms, platelet counts, and GPIb expression in 32 patients with 22q11.2 deletion syndrome (22q11.2DS), which affects platelet function due to a genetic defect.
- - Findings revealed that adolescents/adults with 22q11.2DS had significantly lower platelet counts and GPIb expression compared to children and healthy controls, with a noted decrease in platelet counts as age increased.
- - Despite these differences, bleeding symptoms were mostly minor and did not vary significantly between children and adolescents/adults, although some patients experienced major bleeding events, highlighting the need for more research on bleeding during surgery and trauma.
The Japan Children's Cancer Group Relapsed Acute Lymphoblastic Leukemia (ALL) Committee conducted a prospective observational study (ALL-R14) to explore promising reinduction therapy regimens for relapsed ALL to investigate in future trials. In Japan, clofarabine- and bortezomib-based regimens were of interest since they were newly introduced for ALL in the study period (2015-2018). Seventy-five pediatric patients were enrolled in total.
View Article and Find Full Text PDFMYH9-related disorder (MYH9-RD) is characterized by congenital macrothrombocytopenia and granulocyte inclusion bodies. MYH9-RD is often misdiagnosed as chronic immune thrombocytopenia. In this study, we investigated age at definitive diagnosis and indicative thrombocytopenia in 41 patients with MYH9-RD from the congenital thrombocytopenia registry in Japan.
View Article and Find Full Text PDFArticle Synopsis
- HLA-haploidentical stem cell transplantation (haplo-SCT) using post-transplant high-dose cyclophosphamide (PT-CY) is typically an alternative for patients without suitable donors, but it's risky for those with Fanconi anemia (FA).
- For FA patients, αβT-cell and B-cell depletion (αβT/B-depleted haplo-SCT) is preferred to lower the chances of complications from PT-CY and graft-versus-host disease (GVHD).
- In a case study, an 11-year-old boy with FA successfully received αβT/B-depleted haplo-SCT from his father, achieving neutrophil engraftment by day 9 and remaining healthy without GV
Article Synopsis
- DNA polymerase epsilon (Pol ε) is crucial for DNA replication and its genetic defects are linked to immunodeficiency syndromes; however, its impact on blood cell formation (haematopoiesis) is unclear.
- Researchers discovered specific genetic variants in siblings with severe congenital anemia, which demonstrated atypical symptoms compared to typical cases like Diamond-Blackfan anemia.
- Further studies using patient-derived stem cells and medaka fish models revealed reduced function of Pol ε, leading to blood cell deficiencies and enhancing our understanding of its role in haematopoiesis.
The genetic associations of TREM2 loss-of-function variants with Alzheimer disease (AD) indicate the protective roles of microglia in AD pathogenesis. Functional deficiencies of TREM2 disrupt microglial clustering around amyloid β (Aβ) plaques, impair their transcriptional response to Aβ, and worsen neuritic dystrophy. However, the molecular mechanism underlying these phenotypes remains unclear.
View Article and Find Full Text PDFImpact of asparaginase discontinuation on outcomes of children with acute lymphoblastic leukaemia receiving the Japan Association of Childhood Leukaemia Study ALL-02 protocol.
Br J Haematol
June 2023
Article Synopsis
- * The Japan Association of Childhood Leukaemia Study ALL-02 protocol introduced additional chemotherapies and increased corticosteroid use to manage lower treatment intensity when asparaginase is discontinued.
- * Despite improvements, such as reduced allergy rates, the study showed that discontinuing asparaginase remains a significant risk factor for event-free survival, suggesting the need for ongoing refinement in its use.
Introduction: The current treatment for heart disease consists of exercise therapy in addition to pharmacotherapy, nutritional support and lifestyle guidance. In general, nutritional support focuses on protein, salt and energy restrictions, with no active protein or amino acid intake in cases involving moderate or higher renal failure. From this perspective, patients with cardiac disease are at high risk of frailty.
View Article and Find Full Text PDFArticle Synopsis
- - Takenouchi-Kosaki syndrome (TKS) is a rare genetic disorder caused by a mutation in the CDC42 gene, leading to symptoms like macrothrombocytopenia, developmental delays, facial dysmorphism, and hearing loss.
- - Standard treatment options for macrothrombocytopenia in TKS are limited, and splenectomy is usually not recommended for inherited thrombocytopenia.
- - In a specific case, splenectomy significantly improved both anemia and macrothrombocytopenia in a patient with TKS, suggesting potential benefits, but more research is needed to confirm its safety and effectiveness.
Severe combined immunodeficiency (SCID) is an inborn error of immunity that occurs in approximately 1 in 50,000 births, mainly due to impaired lymphocyte differentiation. Without curative treatment, such as hematopoietic cell transplantation (HCT) or gene therapy, severe infection in the first year of life could make this condition fatal. The results of HCT are poor when patients have active infections, thus requiring early diagnosis before onset of infection.
View Article and Find Full Text PDFPurpose: Hematopoietic cell transplantation (HCT) is a curative therapy for most patients with inborn errors of immunity (IEI). We conducted a nationwide study on HCT for patients with IEI other than severe combined immunodeficiency (non-SCID) in Japan.
Methods: Data from the Japanese national database (Transplant Registry Unified Management Program, TRUMP) for 566 patients with non-SCID IEI, who underwent their first HCT between 1985 and 2016, were retrospectively analyzed.
Article Synopsis
- This study examined severe food protein-induced enterocolitis syndrome (FPIES) in infants with Down syndrome.
- Three cases were documented, where infants developed serious symptoms like hypovolemic shock and kidney injury after consuming a milk-based formula.
- All infants received urgent treatment and recovered well, highlighting the need for quick intervention in FPIES cases among patients with Down syndrome.
Article Synopsis
- Allogeneic HSCT for infants with KMT2A-r ALL has uncertain benefits and risks, leading the MLL-10 trial to limit its use to high-risk patients only.
- Out of 56 high-risk participants, most achieved complete remission, resulting in a 3-year event-free survival rate of 56.8% and overall survival rate of 80.2%.
- While results were promising, there is concern over severe toxicities, suggesting that HSCT criteria might need to be further restricted in favor of newer, less harmful treatments.
Purpose: Hematopoietic cell transplantation (HCT) is a curative therapy for patients with severe combined immunodeficiency (SCID). Here, we conducted a nationwide study to assess the outcome of SCID patients after HCT in Japan.
Methods: A cohort of 181 SCID patients undergoing their first allogeneic HCT in 1974-2016 was studied by using the Japanese national database (Transplant Registry Unified Management Program, TRUMP).