Faculty Profiles - MURAMATSU, Hideki

Papers - MURAMATSU, Hideki

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Risk factors for secondary poor graft function after bone marrow transplantation in children with acquired aplastic anemia Reviewed

Hama A., Muramatsu H., Narita A., Nishikawa E., Kawashima N., Nishio N., Kojima S., Takahashi Y.

Pediatric Transplantation Vol. 24 ( 7 ) page： e13828 2020.11

Language：Japanese Publisher：Pediatric Transplantation

In patients with acquired AA, PGF is a major cause of cytopenia after hematopoietic stem cell transplantation. An increased incidence of PGF, especially sPGF, has been noted after the introduction of the FLU/CY regimen in children with acquired AA. To clarify the risk factors for sPGF, the clinical data of 49 patients (median age, 11 years; range, 1-19 years) with AA who received allogeneic BMT at Nagoya University Hospital from 1997 to 2016 were analyzed. Out of the 49 patients, 7 developed sPGF, and the 5-year CI was 0.15 (95% CI, 0.04-0.25). Five received the FLU/CY regimen, and the 5-year CI of sPGF was significantly higher in patients who received the regimen (0.36; 95% CI, 0.12-0.62) than in those who were conditioned with the non-FLU/CY regimen (0.06; 95% CI, 0.01-0.17; P =.01). The multivariate analysis confirmed that the FLU/CY regimen (hazard ratio, 6.12; 95% CI, 1.16-32.4; P =.03) was a significant risk factor for sPGF. sPGF improved spontaneously without stem cell boost infusions in 5 patients, ranging from 460 to 3539 days after BMT. The 10-year CI of the spontaneous trilineage recovery was 0.83 (95% CI, 0.00-0.97), and all 7 patients are alive. The FLU/CY regimen was identified as a risk factor for the sPGF development in patients with AA. The establishment of the optimal conditioning regimens for children with AA is warranted.

DOI： 10.1111/petr.13828

MicroRNA-155-5p plays a critical role in transient leukemia of down syndrome by targeting tumor necrosis factor receptor superfamily members Reviewed

Sas V., Pasca S., Jurj A., Pop L., Muramatsu H., Ono H., Dima D., Teodorescu P., Iluta S., Turcas C., Onaciu A., Munteanu R., Zimta A.A., Blag C., Popa G., von Gamm E.D.A., Arghirescu S., Serban M., Man S., Marian M., Petrushev B., Berce C., Colita A., Zdrenghea M., Kojima S., Gulei D., Takahashi Y., Tomuleasa C.

Cellular Physiology and Biochemistry Vol. 54 ( 5 ) page： 994 - 1012 2020.10

Language：Japanese Publisher：Cellular Physiology and Biochemistry

Background/Aims: Down syndrome associated disorders are caused by a complex genetic context where trisomy 21 is a central component in relation to other changes involving epigenetic regulators and signaling molecules. This unique genetic context is responsible for the predisposition of people with Down syndrome to acute leukemia. Although, the research in this field has discovered some important pathogenic keys, the exact mechanism of this predisposition is not known. Methods: In this study we applied functional enrichment analysis to evaluate the interactions between genes localized on chromosome 21, genes already identify as having a key role in acute leukemia of Down syndrome, miRNAs and signaling pathways implicated in cancer and cell development and found that miR-155 has a high impact in genes present on chromosome 21. Forward, we performed next generation sequencing on DNA samples from a cohort of patients diagnosed with acute leukemia of Down syndrome and in vitro functional assay using a CMK-86 cell line, transfected with either mimic or inhibitor of the microRNA-155-5p. Results: Our results show that the epigenetic alteration of the TNF superfamily receptors in Down syndrome, which can be correlated to microRNA-155-5p aberrant activity, may play an important role in cell signaling and thus be linked to acute myeloid leukemia. Conclusion: Some genes, already shown to be mutated in AML-DS, are potential targets for miR-155. Our results show that the epigenetic alteration of the TNF superfamily receptors in Down syndrome may play an important role in cell signaling and thus be linked to acute myeloid leukemia.

DOI： 10.33594/000000283

Change of White Matter Integrity in Children With Hematopoietic Stem Cell Transplantation Reviewed

Sakaguchi Y., Natsume J., Kidokoro H., Tanaka M., Okai Y., Ito Y., Yamamoto H., Ohno A., Nakata T., Nakane T., Kawai H., Taoka T., Muramatsu H., Naganawa S., Takahashi Y.

Pediatric Neurology Vol. 111 page： 78 - 84 2020.10

Language：Japanese Publisher：Pediatric Neurology

Background: Advances in hematopoietic stem cell transplantation have improved the survival rate of malignant diseases and congenital immunodeficiencies. It has become important to assess long-term complications in survivors. To assess neurological abnormalities in children treated by transplantation, diffusion tensor imaging was performed. Methods: Forty children who underwent head diffusion tensor imaging before and after their first transplantation were enrolled. Patients with brain lesions on conventional MRI were excluded. Fractional anisotropy and mean diffusivity were compared between patients and 28 control subjects using tract-based spatial statistics. The Strengths and Difficulties Questionnaire was administered as a behavioral evaluation after transplantation, and diffusion tensor images of patients with and without behavioral abnormalities were compared. Results: The age of patients and controls was 0 to 19 years and 0 to 16 years, respectively. The date of diffusion tensor imaging was 10 to 57 days before and 40 to 153 days after transplantation. Tract-based spatial statistics showed fractional anisotropy reduction in widespread white matter in patients before and after transplantation. Mean diffusivity was high before transplantation and normalized after transplantation. Analysis comparing before and after hematopoietic stem cell transplantation shows no difference in fractional anisotropy and significantly high mean diffusivity before hematopoietic stem cell transplantation. In patients with behavioral abnormalities, low fractional anisotropy and high mean diffusivity remained after transplantation. Conclusions: Longitudinal diffusion tensor imaging showed white matter abnormalities in children without conventional MRI abnormalities, which were related to behavioral problems after transplantation. Diffusion tensor imaging is useful for behavioral assessment in children undergoing transplantation.

DOI： 10.1016/j.pediatrneurol.2020.06.008

Association between graft source and response to live-attenuated vaccination in pediatric hematopoietic stem cell transplantation recipients: a single-center retrospective study Reviewed

Suzuki T., Kawada J.i., Nishikawa E., Torii Y., Horiba K., Takeuchi S., Okumura T., Muramatsu H., Takahashi Y., Ito Y.

Bone Marrow Transplantation Vol. 55 ( 9 ) page： 1872 - 1874 2020.9

Hematopoietic Cell Transplantation for Chronic Granulomatous Disease in Japan Reviewed

Yanagimachi M., Kato K., Iguchi A., Sasaki K., Kiyotani C., Koh K., Koike T., Sano H., Shigemura T., Muramatsu H., Okada K., Inoue M., Tabuchi K., Nishimura T., Mizukami T., Nunoi H., Imai K., Kobayashi M., Morio T.

Frontiers in Immunology Vol. 11 page： 1617 2020.7

Language：Japanese Publisher：Frontiers in Immunology

Hematopoietic cell transplantation (HCT) is established as a curative treatment for severe chronic granulomatous disease (CGD). However, outcomes of HCT for CGD in Japan had not been precisely reported. We evaluated the outcome of HCT for CGD in Japan by means of a nationwide survey. A total of 91 patients (86 males and 5 females) with CGD who received HCT between 1992 and 2013 was investigated. Their median age at HCT was 11 years (0–39). Sixty-four patients had X-linked CGD caused by CYBB gene mutations, 13 had autosomal recessive CGD (7 CYBA and 6 NCF2), and 14 were genetically undetermined. Seventy patients are still alive at a median follow-up of 38.9 (3.7–230) months. Three-year OS and EFS was 73.7 and 67.6%, respectively. Twenty-one patients died mainly from transplant-related mortality. The cumulative incidence of grade II to IV acute GVHD and extensive chronic GVHD was 27.2 and 17.9%, respectively. Risk factors for EFS after HCT for CGD were age >30 years (P < 0.01), non-CYBB gene mutations (P < 0.01) and CBT (P < 0.01). Regarding the reduced intensity conditioning (RIC) regimen, risk factors for EFS included anti-thymocyte globulin (P = 0.048) and not using low-dose irradiation therapy (P < 0.01), in addition to the preceding risk factors. We report outcomes of HCT for CGD in Japan. Future studies are needed to improve such outcomes, especially for patients harboring non-CYBB gene mutations and suffering from adult CGD. A RIC regimen including low-dose irradiation may be a good option to explore further.

DOI： 10.3389/fimmu.2020.01617

Targeting MEF2D-fusion Oncogenic Transcriptional Circuitries in B-cell Precursor Acute Lymphoblastic Leukemia Reviewed

Tsuzuki S., Yasuda T., Kojima S., Kawazu M., Akahane K., Inukai T., Imaizumi M., Morishita T., Miyamura K., Ueno T., Karnan S., Ota A., Hyodo T., Konishi H., Sanada M., Nagai H., Horibe K., Tomita A., Suzuki K., Muramatsu H., Takahashi Y., Miyazaki Y., Matsumura I., Kiyoi H., Hosokawa Y., Mano H., Hayakawa F.

Blood Cancer Discovery Vol. 1 ( 1 ) page： 82 - 95 2020.7

Language：English Publisher：Blood Cancer Discovery

The cellular context that integrates gene expression, signaling, and metabolism dictates the oncogenic behavior and shapes the treatment responses in distinct cancer types. Although chimeric fusion proteins involving transcription factors (TF) are hallmarks of many types of acute lymphoblastic leukemia (ALL), therapeutically targeting the fusion proteins is a challenge. In this work, we characterize the core regulatory circuitry (CRC; interconnected autoregulatory loops of TFs) of B-ALL involving MEF2D-fusions and identify MEF2D-fusion and SREBF1 TFs as crucial CRC components. By gene silencing and pharmacologic perturbation, we reveal that the CRC integrates the pre-B-cell receptor (BCR) and lipid metabolism to maintain itself and govern malignant phenotypes. Small-molecule inhibitors of pre-BCR signaling and lipid biosynthesis disrupt the CRC and silence the MEF2D fusion in cell culture and show therapeutic efficacy in xenografted mice. Therefore, pharmacologic disruption of CRC presents a potential therapeutic strategy to target fusion protein–driven leukemia.

DOI： 10.1158/2643-3230.BCD-19-0080

Conditioning regimen for allogeneic bone marrow transplantation in children with acquired bone marrow failure: fludarabine/melphalan vs. fludarabine/cyclophosphamide Reviewed

Yoshida N., Takahashi Y., Yabe H., Kobayashi R., Watanabe K., Kudo K., Yabe M., Miyamura T., Koh K., Kawaguchi H., Goto H., Fujita N., Okada K., Okamoto Y., Kato K., Inoue M., Suzuki R., Atsuta Y., Kojima S., Yoshida N., Takahashi Y., Kobayashi R., Watanabe K.i., Kudo K., Kato K., Muramatsu H., Narita A., Wakamatsu M., Kojima S.

Bone Marrow Transplantation Vol. 55 ( 7 ) page： 1272 - 1281 2020.7

Language：Japanese Publisher：Bone Marrow Transplantation

Fludarabine/cyclophosphamide-based conditioning regimens are standard in bone marrow transplantation (BMT) for acquired bone marrow failure in children, however, graft failure may occur. Using the data from a nationwide transplantation registry, we compared the outcomes of children aged <16 years with acquired aplastic anemia and refractory cytopenia of childhood who underwent allogeneic BMT with either fludarabine/melphalan (n = 71) or fludarabine/cyclophosphamide (n = 296) between 2000 and 2016. The fludarabine/melphalan regimen provided excellent outcomes, with 3-year overall survival and failure-free survival rates of 98% and 97%, respectively. The 83% 3-year failure-free survival in the fludarabine/cyclophosphamide group was significantly inferior (P = 0.002), whereas the overall survival did not differ between the two groups. Late graft failure was the most common cause of treatment failure in the fludarabine/cyclophosphamide group, which experienced a significantly higher incidence of late graft failure than the fludarabine/melphalan group (11% vs. 3%; P = 0.035). Multivariate analyses showed that the fludarabine/melphalan regimen was associated with a better failure-free survival (hazard ratio [HR] 0.12; P = 0.005) and lower risk of late graft failure (HR 0.16; P = 0.037). Fludarabine/melphalan-based conditioning regimen can be a promising option for children with acquired bone marrow failure receiving BMT.

DOI： 10.1038/s41409-020-0948-8

Biallelic VPS35L pathogenic variants cause 3C/Ritscher-Schinzel-like syndrome through dysfunction of retriever complex Reviewed

Kato K., Oka Y., Muramatsu H., Vasilev F.F., Otomo T., Oishi H., Kawano Y., Kidokoro H., Nakazawa Y., Ogi T., Takahashi Y., Saitoh S.

Journal of Medical Genetics Vol. 57 ( 4 ) page： 245 - 253 2020.4

Language：Japanese Publisher：Journal of Medical Genetics

Background 3C/Ritscher-Schinzel syndrome is characterised by congenital cranio-cerebello-cardiac dysplasia, where CCDC22 and WASHC5 are accepted as the causative genes. In combination with the retromer or retriever complex, these genes play a role in endosomal membrane protein recycling. We aimed to identify the gene abnormality responsible for the pathogenicity in siblings with a 3C/Ritscher-Schinzel-like syndrome, displaying cranio-cerebello-cardiac dysplasia, coloboma, microphthalmia, chondrodysplasia punctata and complicated skeletal malformation. Methods Exome sequencing was performed to identify pathogenic variants. Cellular biological analyses and generation of knockout mice were carried out to elucidate the gene function and pathophysiological significance of the identified variants. Results We identified compound heterozygous pathogenic variants (c.1097dup; p.Cys366Trpfs∗28 and c.2755G>A; p.Ala919Thr) in the VPS35L gene, which encodes a core protein of the retriever complex. The identified missense variant lacked the ability to form the retriever complex, and the frameshift variant induced non-sense-mediated mRNA decay, thereby confirming biallelic loss of function of VPS35L. In addition, VPS35L knockout cells showed decreased autophagic function in nutrient-rich and starvation conditions, as well as following treatment with Torin 1. We also generated Vps35l -/- mice and demonstrated that they were embryonic lethal at an early stage, between E7.5 and E10.5. Conclusions Our results suggest that biallelic loss-of-function variants in VPS35L underlies 3C/Ritscher-Schinzel-like syndrome. Furthermore, VPS35L is necessary for autophagic function and essential for early embryonic development. The data presented here provide a new insight into the critical role of the retriever complex in fetal development.

DOI： 10.1136/jmedgenet-2019-106213

Novel compound heterozygous MCOLN1 mutations identified in a Japanese girl with severe developmental delay and thin corpus callosum Reviewed

Yamaguchi N., Ban K., Suzuki A., Nakamura Y., Kato K., Muramatsu H., Okuno Y., Hattori A., Kaname T., Takahashi Y., Saitoh S.

Brain and Development Vol. 42 ( 3 ) page： 298 - 301 2020.3

Language：Japanese Publisher：Brain and Development

Mucolipidosis type IV (MLIV) is a rare lysosomal storage disorder causing severe psychomotor developmental delay and progressive visual impairment. MLIV is an autosomal recessive disease caused by mutations in MCOLN1, which encodes for mucolipin-1. Here, we report a case of a 4-year-old Japanese girl with severe intellectual disability and motor deficits. Brain magnetic resonance imaging showed signal abnormalities in the white matter and thinning of the corpus callosum. Whole-exome sequencing was performed on the proband and her parents, and novel compound heterozygous mutations at c.936_938del (p.Phe313del) and c.1503dupC (p.Ile502Hisfs*106) in MCOLN1 (NM_020533.2) were identified in the proband. Additional biochemical examinations revealed elevated serum gastrin level and iron deficiency anemia, leading to the diagnosis of MLIV. More reports of such pathogenic mutations are expected to broaden the understanding of the channel function of mucolipin-1 and genotype-phenotype correlations.

DOI： 10.1016/j.braindev.2019.12.003

Novel biallelic FA2H mutations in a Japanese boy with fatty acid hydroxylase-associated neurodegeneration Reviewed

Kawaguchi M., Sassa T., Kidokoro H., Nakata T., Kato K., Muramatsu H., Okuno Y., Yamamoto H., Kaname T., Kihara A., Natsume J.

Brain and Development Vol. 42 ( 2 ) page： 217 - 221 2020.2

Language：Japanese Publisher：Brain and Development

FA2H encodes fatty acid 2-hydroxylase, which plays a significant role in maintaining the neuronal myelin sheath. Previous reports have revealed that a FA2H mutation leads to spastic paraplegia, leukodystrophy, and neurodegeneration with brain iron accumulation, collectively referred to as fatty acid hydroxylase-associated neurodegeneration (FAHN). The disease severity of FAHN varies among individual patients and may be explained by the enzyme activity of FA2H mutant proteins. Here we report a 10-year-old Japanese boy with FAHN having novel heterozygous mutations in FA2H. The patient presented with a spastic gait since the age of 5 years and was unable to walk without a cane by the time he was 8 years old. Brain MRI demonstrated a partial thinning of the corpus callosum, slight reduction of cerebellar volume, and posterior dominant periventricular leukodystrophy. Whole exome sequencing revealed two novel missense mutations in FA2H with compound heterozygous inheritance (NM_024306, p.Val149Leu, and p.His260Gln mutations). The enzyme activities of the p.Val149Leu and p.His260Gln variants were 60%–80% and almost 0%, respectively. Our cell-based enzyme assay demonstrated partial functionality for one of the variants, indicating a milder phenotype. However, considered along with previous reports, there was no definite relationship between the disease severity and residual enzyme activity measured using a similar method. Further research is needed to precisely predict the phenotypic severity of this disorder.

DOI： 10.1016/j.braindev.2019.11.006

Targetable driver mutations in multicentric reticulohistiocytosis Reviewed

Murakami N., Sakai T., Arai E., Muramatsu H., Ichikawa D., Asai S., Shimoyama Y., Ishiguro N., Takahashi Y., Okuno Y., Nishida Y.

Haematologica Vol. 105 ( 2 ) page： E61 - E64 2020.1

Erratum: Pathogenic mutations identified by a multimodality approach in 117 Japanese Fanconi anemia patients (Haematologica (2019) (1967) DOI: 10.3324/haematol.2018.207241) Reviewed

Mori M., Hira A., Yoshida K., Muramatsu H., Okuno Y., Shiraishi Y., Anmae M., Yasuda J., Tadaka S., Kinoshita K., Osumi T., Noguchi Y., Adachi S., Kobayashi R., Kawabata H., Imai K., Morio T., Tamura K., Takaori-Kondo A., Yamamoto M., Miyano S., Kojima S., Ito E., Ogawa S., Matsuo K., Yabe H., Yabe M., Takata M.

Haematologica Vol. 105 ( 4 ) page： 1166 - 1167 2020

A novel CUL4B splice site variant in a young male exhibiting less pronounced features Reviewed

Nakamura Y., Okuno Y., Muramatsu H., Kawai T., Satou K., Ieda D., Hori I., Ohashi K., Negishi Y., Hattori A., Takahashi Y., Kojima S., Saitoh S.

Human Genome Variation Vol. 6 ( 1 ) page： 43 2019.12

Language：Japanese Publisher：Human Genome Variation

Patients with variants in CUL4B exhibit syndromic intellectual disability (MIM #300354). A seven-year-old boy presented with intellectual disability, a history of seizure, characteristic facial features, and short stature. Whole-exome sequencing detected a c.974+3A>G variant in CUL4B, which was subsequently confirmed to disrupt mRNA splicing. The current patient showed less pronounced phenotypic features compared with the previously reported cases. This report, therefore, provides evidence of genotype–phenotype correlations in CUL4B-related disorders.

DOI： 10.1038/s41439-019-0074-6

Study of pathophysiology and molecular characterization of congenital anemia in India using targeted next-generation sequencing approach Reviewed

Kedar P.S., Harigae H., Ito E., Muramatsu H., Kojima S., Okuno Y., Fujiwara T., Dongerdiye R., Warang P.P., Madkaikar M.R.

International Journal of Hematology Vol. 110 ( 5 ) page： 618 - 626 2019.11

Language：Japanese Publisher：International Journal of Hematology

Most patients with anemia are diagnosed through clinical phenotype and basic laboratory testing. Nonetheless, in cases of rare congenital anemias, some patients remain undiagnosed despite undergoing an exhaustive workup. Genetic testing is complicated by the large number of genes that are involved in rare anemias, due to similarities in the clinical presentation. We sought to enhance the diagnosis of patients with congenital anemias by using targeted next-generation sequencing. The genetic diagnosis was performed by gene capture followed by next-generation sequencing of 76 genes known to cause anemia syndromes. Genetic diagnosis was achieved in 17 of 21 transfusion-dependent patients and undiagnosed by conventional workup. Four cases were diagnosed with red cell membrane protein defects, four patients were diagnosed with pyruvate kinase deficiency, one case of adenylate kinase deficiency, one case of glucose phosphate isomerase deficiency, one case of hereditary xerocytosis, three cases having combined membrane and enzyme defect, two cases with Diamond–Blackfan anemia (DBA) and 1 with CDA type II with 26 different mutations, of which 21 are novel. Earlier incorporation of this NGS method into the workup of patients with congenital anemia may improve patient care and enable genetic counselling.

DOI： 10.1007/s12185-019-02716-9

Essential role of PTPN11 mutation in enhanced haematopoietic differentiation potential of induced pluripotent stem cells of juvenile myelomonocytic leukaemia Reviewed

Shigemura T., Matsuda K., Kurata T., Sakashita K., Okuno Y., Muramatsu H., Yue F., Ebihara Y., Tsuji K., Sasaki K., Nakahata T., Nakazawa Y., Koike K.

British Journal of Haematology Vol. 187 ( 2 ) page： 163 - 173 2019.10

Language：Japanese Publisher：British Journal of Haematology

We established mutated and non-mutated induced pluripotent stem cell (iPSC) clones from a patient with PTPN11 (c.226G>A)-mutated juvenile myelomonocytic leukaemia (JMML). Both types of iPSCs fulfilled the quality criteria. Mutated iPSC colonies generated significantly more CD34+ and CD34+CD45+ cells compared to non-mutated iPSC colonies in a culture coated with irradiated AGM-S3 cells to which four growth factors were added sequentially or simultaneously. The haematopoietic differentiation potential of non-mutated JMML iPSC colonies was similar to or lower than that of iPSC colonies from a healthy individual. The PTPN11 mutation coexisted with the OSBP2 c.389C>T mutation. Zinc-finger nuclease-mediated homologous recombination revealed that correction of PTPN11 mutation in iPSCs with PTPN11 and OSBP2 mutations resulted in reduced CD34+ cell generation to a level similar to that obtained with JMML iPSC colonies with the wild-type of both genes, and interestingly, to that obtained with normal iPSC colonies. Transduction of the PTPN11 mutation into JMML iPSCs with the wild-type of both genes increased CD34+ cell production to a level comparable to that obtained with JMML iPSC colonies harbouring the two genetic mutations. Thus, PTPN11 mutation may be the most essential abnormality to confer an aberrant haematopoietic differentiation potential in this disorder.

DOI： 10.1111/bjh.16060

Prospective randomized trial comparing two doses of rabbit anti-thymocyte globulin in patients with severe aplastic anaemia Reviewed

Narita A., Zhu X., Muramatsu H., Chen X., Guo Y., Yang W., Zhang J., Liu F., Jang J.H., Kook H., Kim H., Usuki K., Yamazaki H., Takahashi Y., Nakao S., Wook Lee J., Kojima S.

British Journal of Haematology Vol. 187 ( 2 ) page： 227 - 237 2019.10

Language：Japanese Publisher：British Journal of Haematology

The treatment of choice for patients with severe aplastic anaemia (SAA) includes immunosuppressive therapy (IST) with anti-thymocyte globulin (ATG) and ciclosporin A. However, the optimal dose for rabbit ATG has yet to be established. We herein report the first prospective, randomized, multicentre study comparing two doses of rabbit ATG in patients with SAA. Patients with SAA who required initial IST in Japan (n = 89), China (n = 85) and Korea (n = 48) were enrolled between May 2012 and October 2017. A 1:1 block randomization was employed for two doses of rabbit ATG. In total, 222 patients were randomized, with 112 patients receiving 2·5 mg/kg and 110 receiving 3·5 mg/kg of rabbit ATG for 5 days. The primary endpoint was the haematological response at day 180. After 6 months, no significant difference in response rates was observed between the 2·5 and 3·5 mg/kg groups (49% vs. 48%, P = 0·894). Overall survival at 3 years was similar between the two groups [85% (95% confidence interval [CI], 76%−91%) vs. 91% (95% CI, 82%−96%); P = 0·107]. The current study revealed no significant differences in the efficacy and safety between the 2·5 and 3·5 mg/kg doses of rabbit ATG in patients with SAA. Trial registration: UMIN000011134.

DOI： 10.1111/bjh.16055

Risk factors for absence of catch-up growth in small for gestational age very low-birthweight infants Reviewed

Arai S., Sato Y., Muramatsu H., Yamamoto H., Aoki F., Okai Y., Kataoka S., Hanada Y., Hamada M., Morimoto Y., Kojima S., Natsume J., Takahashi Y., Sugiyama Y., Hoshino S., Kawada J., Kidokoro H., Hayakawa M., Hattori T., Kato Y., Yasuda A., Oshiro M., Takemoto K., Nishimura N., Hayashi S., Hyodo R., Ito M., Narahara S., Ieda K., Yamamoto H.

Pediatrics International Vol. 61 ( 9 ) page： 889 - 894 2019.9

Language：Japanese Publisher：Pediatrics International

Background: Many small for gestational age (SGA) infants have catch-up growth during the first 2 years of life, but approximately 10% have no catch-up growth, and short stature continues into adulthood. Identification of risk factors for absence of catch-up growth at an early age may be useful for earlier diagnosis and earlier treatment. Methods: This was a retrospective multicenter study. The subjects were SGA infants with very low-birthweight (VLBW), who were followed up until the age of 3 years. The risk factors for absence of catch-up growth were identified on statistical analysis. Results: Of the 217 SGA infants in this study, 181 were in the catch-up group and 36 were in the no catch-up group. The catch-up rate was 83%. On multivariate analysis adjusted for gestational age, birthweight, birth height, and birth head circumference, multipara, Z and ΔZ scores of length at 12 months of corrected age, and the Z score of height at 24 months of corrected age were risk factors for lack of catch-up at 3 years. Conclusions: The length Z and ΔZ scores at 12 months of corrected age may be useful for an earlier diagnosis and earlier initiation of growth hormone treatment in VLBW infants.

DOI： 10.1111/ped.13939

Whole abdominopelvic intensity-modulated radiation therapy for peritoneal disseminated rhabdomyosarcoma with three-year follow-up: A case report Reviewed

Kawamura M., Okudaira K., Itoh Y., Kamomae T., Nishikawa E., Muramatsu H., Takahashi Y., Yokota K., Naganawa S.

Radiation Oncology Vol. 14 ( 1 ) page： 127 2019.7

Language：Japanese Publisher：Radiation Oncology

Background: The role of local radiotherapy in the treatment of metastatic rhabdomyosarcoma is important. However, with peritoneal dissemination, the application of local therapy is challenging. Although there are few reports addressing the efficacy of the whole abdominopelvic irradiation to peritoneal disseminated rhabdomyosarcoma patients, no precise curse of treatment nor the follow up result is explained in paper nor in the text. Case presentation: Six years old rhabdomyosarcoma boy with peritoneal dissemination was treated at our facility under COG D9803 protocol (vincristine, dactinomycin, and cyclophosphamide (VAC)). He underwent tumor resection on the 14th week according to the protocol. During surgery, the 2-cm residual tumor was completely resected, but in the pelvis, numerous nodules that were suspected as peritoneal disseminated tumors were observed. We administered 30 Gy/20fr whole abdominopelvic radiotherapy using volumetric modulated arc therapy (VMAT) technique and a 6 Gy sequential boost to pelvis after the surgery and completed the protocol treatment. During the course of treatment, the patient experienced G4 hematological toxicity and received multiple transfusions, particularly after whole abdominopelvic irradiation. He has achieved complete remission and is alive without evidence of recurrence and severe late adverse effect for 3 years. In terms of growth, his height and weight are within the average values for Japanese boys at the same age. Conclusion: By using the VMAT technique, a patient with peritoneal disseminated rhabdomyosarcoma can be treated, and a dose of 30 Gy to the whole abdominopelvis with concurrent chemotherapy may be tolerable.

DOI： 10.1186/s13014-019-1333-x

Elucidation of the pathogenic mechanism and potential treatment strategy for a female patient with spastic paraplegia derived from a single-nucleotide deletion in PLP1 Reviewed

Yamamoto-Shimojima K., Imaizumi T., Aoki Y., Inoue K., Kaname T., Okuno Y., Muramatsu H., Kato K., Yamamoto T.

Journal of Human Genetics Vol. 64 ( 7 ) page： 665 - 671 2019.7

Language：Japanese Publisher：Journal of Human Genetics

Pelizaeus-Merzbacher disease (PMD) is an X-linked recessive disorder caused by abnormalities in the gene PLP1. Most females harboring heterozygous PLP1 abnormalities are basically asymptomatic. However, as a result of abnormal patterns of X-chromosome inactivation, it is possible for some female carriers to be symptomatic. Whole-exome sequencing of a female patient with unknown spastic paraplegia was performed to obtain a molecular diagnosis. As a result, a de novo heterozygous single-nucleotide deletion in PLP1 [NM_000533.5(PLP1_v001):c.783del; p.Thr262Leufs*20] was identified. RNA sequencing was performed in a patient-derived lymphoblastoid cell line, confirming mono-allelic expression of the mutated allele and abnormal inactivation of the wild-type allele. The patient-derived lymphoblastoid cell line was then treated with VX680 or 5azadC, which resulted in restored expression of the wild-type allele. These two agents thus have the potential to reverse inappropriately-skewed inactivation of the X-chromosome.

DOI： 10.1038/s10038-019-0600-x

Correction: Treatment with silver nitrate versus topical steroid treatment for umbilical granuloma: A non-inferiority randomized control trial (PLoS ONE (2018) 13: 2 (e0192688) DOI: 10.1371/journal.pone.0192688) Reviewed

Ogawa C., Sato Y., Suzuki C., Mano A., Tashiro A., Niwa T., Hamazaki S., Tanahashi Y., Suzumura M., Hayano S., Hayakawa M., Tsuji T., Hoshino S., Sugiyama Y., Kidokoro H., Kawada J.i., Muramatsu H., Hirakawa A., Ando M., Natsume J., Kojima S.

PLoS ONE Vol. 14 ( 6 ) page： e0218205 2019.6

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