Publications by authors named "Wakamatsu M"

Aplastic anemia, mental retardation, and dwarfism syndrome (AMeDS) is a rare inherited bone marrow failure syndrome. Allogeneic hematopoietic stem cell transplantation (allo-HSCT) is the only possible treatment option for hematological complications in AMeDS; however, there are no reports addressing allo-HSCT for AMeDS. A 6-year-old female diagnosed with AMeDS accompanying myelodysplastic syndrome with increased blast was successfully treated with cord blood transplantation followed by myeloablative conditioning (MAC).

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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.

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Allogeneic hematopoietic cell transplantation (HCT) is a crucial treatment for various diseases, including hematological malignancies, solid tumors, and genetic disorders. Despite its curative potential, HCT is associated with severe complications, notably infections, graft-versus-host disease, and organ damage. Infections, particularly bloodstream infections (BSIs), pose a significant threat in the initial weeks post-HCT, necessitating effective management strategies.

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  • - Erdheim-Chester disease (ECD) is a rare condition marked by the abnormal accumulation of histiocytes in various body systems, often leading to complications like pericardial effusion and thickening, resulting in potential heart issues.
  • - A case study is presented of a 51-year-old man with ECD who developed severe constrictive pericarditis, experiencing symptoms like fluid retention and heart failure.
  • - Following an accurate diagnosis, the patient was treated with interferon alpha, leading to significant improvements and emphasizing the need for early intervention for unexpected ECD complications.
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  • Repro57 mice with a mutation in the Rnf212 gene are infertile, showing issues with sperm development in males and unclear infertility causes in females.
  • In male mice, spermatogenesis is arrested, leading to the absence of mature sperm, while female mice show aneuploidy and altered chromosomal patterns in their oocytes.
  • Although fertilization rates don’t significantly differ between wild-type and mutant mice, the mutant embryos struggle with later developmental stages, leading to lower success rates in forming morulae and blastocysts.
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  • Recent advancements in data-independent acquisition proteomic analysis have allowed for the detailed study of over 10,000 proteins, focusing on inherited bone marrow failure syndromes (IBMFS).
  • An integrated proteogenomic analysis identified distinct protein expression patterns in various syndromes like dyskeratosis congenita and Fanconi anemia, revealing significant downregulation in proteins tied to ribosomal pathways in specific clusters.
  • Targeted proteomic analysis of 417 samples demonstrated reduced SBDS and ADH5 protein levels in patients with related conditions, suggesting that this approach could enhance diagnostic and screening methods for IBMFS where standard tests are inadequate.
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Non-tuberculous mycobacterial infection (NTM) is rare in healthy children, with lymphadenitis being the most common presentation. Immunocompromised populations are known to be at high risk, but the clinical picture of NTM infection in pediatric hematology/oncology patients is unclear. In this nationwide retrospective analysis of patients under the age of 40 treated in Japanese pediatric hematology/oncology departments who developed NTM infection between January 2010 and December 2020, 36 patients were identified: 21 patients with hematopoietic stem cell transplantation (HSCT) and 15 non-transplant patients.

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Depression is frequently seen among pregnant women. This is called antenatal depression (AND). Our aim was to identify clusters of AND and its core symptoms.

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Dedicator of cytokinesis 8 (DOCK8) deficiency is a rare autosomal recessive inborn error of immunity (IEI) characterized by eczematous dermatitis, elevated serum IgE, and recurrent infections, comprising a seemingly hyper-IgE syndrome (HIES). DOCK8 deficiency is only curable with allogeneic hematopoietic cell transplantation (HCT), but the outcome of HCT from alternative donors is not fully understood. Here, we describe the cases of two Japanese patients with DOCK8 deficiency who were successfully treated by allogeneic HCT from alternative donors.

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Insomnia is associated with adverse outcomes in women in the perinatal period; thus, the assessment of insomnia is important for pregnant women. The Insomnia Severity Index (ISI) is an instrument used globally to assess the severity of insomnia. However, its factor structure and structural invariance for pregnant women have not been studied.

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Background: Myelin oligodendrocyte glycoprotein (MOG) antibody-associated disease (MOGAD) is an autoimmune demyelinating disorder that often manifests after infections or vaccinations. We report two patients who developed MOGAD out of eight patients with juvenile myelomonocytic leukemia (JMML) that has never been reported.

Methods: We investigated two patients with JMML who developed MOGAD among 127 patients with leukemia from 2012 to 2021.

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  • Acute graft-versus-host disease (aGVHD) is a serious complication post-hematopoietic stem cell transplantation and can be difficult to treat, especially in patients unresponsive to steroids.
  • Vedolizumab, typically used for inflammatory bowel diseases, was tested on a 7-year-old boy with late-onset intestinal aGVHD who had not responded to steroid treatment, resulting in symptom improvement and positive endoscopic outcomes.
  • In a small study involving 10 pediatric patients with aGVHD, 60% showed improvement with vedolizumab, indicating it could be a promising treatment for those who don't respond to standard steroid therapy.
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  • A 23-year-old woman was diagnosed with macrocytic hemolytic anemia and iron overload, making her case complex to classify.
  • Key lab findings included high serum ferritin and transferrin saturation, alongside low serum transferrin and ceruloplasmin.
  • Genetic testing revealed a new mutation in the PIEZO1 gene, previously linked to dehydrated hereditary stomatocytosis, emphasizing the need to consider this condition when diagnosing iron overload with hemolytic anemia in younger patients.
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  • HLA mismatched unrelated donor transplantation poses risks like graft-versus-host disease (GVHD), graft failure, and infections, affecting patient health after the procedure.
  • A study assessed outcomes of 30 children who received bone marrow transplants from HLA 1 allele-mismatched donors using rabbit anti-thymocyte globulin (rATG) for GVHD prevention.
  • The results showed high overall survival (91.7%) and event-free survival (88.3%) rates, with manageable GVHD occurrences and no fatal viral infections, indicating a viable option for patients without a fully matched donor.
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Anti-thymocyte globulin (ATG) is widely used to reduce acute and chronic graft-versus-host disease (a/cGVHD), one of the leading causes of morbidity and mortality after allogeneic hematopoietic stem cell transplantation (HSCT). As the removal of alloreactive T cells by ATG may also reduce the graft-versus-leukemia effect, the question of whether ATG use affects relapse incidence and survival outcomes in acute leukemia patients with pre-transplant bone marrow residual blasts (PRB) remains controversial. Here, we evaluated the impact of ATG on transplant outcomes in acute leukemia patients with PRB (n = 994) who underwent HSCT from HLA 1-allele mismatched unrelated donors (MMUD) or HLA 1-antigen mismatched related donors (MMRD).

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Acrylamide (AA) is a neurotoxicant that inhibits synaptic function in distal axons. We previously found that AA decreased neural cell lineages during late-stage differentiation of adult hippocampal neurogenesis and downregulated genes related to neurotrophic factor, neuronal migration, neurite outgrowth, and synapse formation in the hippocampal dentate gyrus in rats. To investigate whether olfactory bulb (OB)-subventricular zone (SVZ) neurogenesis is similarly affected by AA exposure, AA was administered to 7-week-old male rats via oral gavage at doses of 0, 5, 10, and 20 mg/kg for 28 days.

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Many pregnant women experience impairments in social, occupational, or other important functioning. This study aimed to confirm measurement and structural invariance of the Sheehan Disability Scale (SDS) and its validity during early pregnancy. Longitudinal study with two observations.

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  • * The study involved 43 children aged 0 to 19 and aimed to analyze how melphalan levels (measured by area under the curve, AUC) affected transplant outcomes, finding higher AUC levels linked to lower risk of acute complications but no difference in survival rates.
  • * A predictive model for melphalan clearance was developed, showing a strong correlation between predicted clearance based on patient-specific factors (like creatinine excretion and clearance rates) and actual measured values, suggesting that dosing
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