• 理念
• 最近の主な業績
• 研究支援活動
• 研究員
• センター長の紹介

長野県における小児高度専門医療施設として位置づけられる当院では、高度で専門的な小児医療を支えるための先端的な解析技術の獲得と、その診断・治療への応用が求められています。生命科学研究センターは、その中心的な役割を担うことを目的に設置されました。センターが行う業務を通して、今まで明らかにできなかった疾患や病態の原因を解明できる可能性があります。その結果、治療方針や予後などに関する見通しが立ち、医療、療育に生かすことができます。また、新しい診断方法や治療法の開発につながることが期待されます。 (文部科学省科学研究費助成事業指定研究機関)

理念

1. 将来を担う子どもたちに対する高度で専門的な医療を側面から支援するために遺伝学的解析をはじめとする研究を推進し、臨床と研究の間の橋渡しを行います。
2. 医療との連携のもと、小児疾患を対象とした病態解析および研究から得られた情報を広く社会に向けて発信します。
3. 生命科学の調査、研究の専門家を育成し、啓発普及のため教育研修を行います。

最近の主な業績

1. 1. Outcomes Following Close Collaboration With Parents Intervention in Neonatal Intensive Care Units: A Nonrandomized Clinical Trial.JAMA Netw Open. 2025 Jan 2;8(1):e2454099. doi: 10.1001/jamanetworkopen.2024.54099. PMID: 39786771
   2. Diagnostic Difficulty in a Girl With Anti-Signal Recognition Particle Myopathy With a Slow Progressive Course. J Clin Neuromuscul Dis. 2024 Dec 1;26(2):102-105. doi: 10.1097/CND.0000000000000489. PMID: 39590929
   3. Effect of couplet care on early parent-infant closeness among preterm infants. Acta Paediatr. 2024 Nov 18. doi: 10.1111/apa.17502. Online ahead of print. PMID: 39555587
   4. A Novel Synonymous Variant in SQSTM1 Causes Neurodegeneration With Ataxia, Dystonia, and Gaze Palsy Revealed by Urine-Derived Cells-Based Functional Analysis．Mol Genet Genomic Med. 2024 Nov;12(11):e70044. doi: 10.1002/mgg3.70044．PMID: 39587727
   5. Associations between maternal per- and polyfluoroalkyl substances exposure and lipid levels in maternal and cord blood: The Japan Environment and Children’s Study. Japan Environment and Children’s Study (JECS) Group. Environ Res. 2024 Oct 22:120217. doi: 10.1016/j.envres.2024.120217. Online ahead of print. PMID: 39448010
   6. High-density lipoprotein functionality in cholesterol efflux in early childhood is related to the content ratio of triglyceride to cholesterol. Sci Rep. 2024 Oct;14(1):23323. doi: 10.1038/s41598-024-74699-5. PMID: 39375444
   7. Maternal Exposure to Per- and Polyfluoroalkyl Substances and Offspring Chromosomal Abnormalities: The Japan Environment and Children’s Study. Japan Environment and Children’s Study Group. Environ Health Perspect. 2024 Sep;132(9):97004. doi: 10.1289/EHP13617. Epub 2024 Sep 11. PMID: 39258902
   8. Prenatal mercury exposure and the secondary sex ratio: The Japan Environment and Children’s Study. Japan Environment and Children’s Study (JECS) Group. Reprod Toxicol. 2024 Aug; 130:108685. doi: 10.1016/j.reprotox.2024.108685. Online ahead of print. PMID: 39127150
   9. Robust growth hormone responses to GH-releasing peptide 2 in adolescents. J Pediatr Endocrinol Metab. 2024 Jul 4. doi: 10.1515/jpem-2024-0115. Online ahead of print.PMID: 38958228
   10. Impact of discharge criteria on the length of stay in preterm infants: A retrospective study in Japan and Finland. Early Hum Dev. 2024 Jun;193:106016. doi: 10.1016/j.earlhumdev.2024.106016. Epub 2024 Apr 21.PMID: 38663141
   11. Developmental changes in prefrontal cortex activation in children with or without autism spectrum traits on near-infrared spectroscopy. H.Brain Dev. 2024 Aug;46(7):235-243. doi: 10.1016/j.braindev.2024.03.006. Epub 2024 Mar 30.PMID: 38556383
   12. Percutaneous Drainage for Giant Pulmonary Interstitial Emphysema in a Tiny Infant with a Birth Weight of 327 g. AJP Rep. 2024 May 3;14(2):e133-e135. doi: 10.1055/s-0044-1786713. eCollection 2024 Apr. PMID: 38707264
   13. Activation of basophils in children with food allergies by blood from donors ingesting the corresponding food. Allergy. 2024 Jan 11. doi: 10.1111/all.16013. Online ahead of print.PMID: 38205723 No abstract available.
   14. Risk factors for post-encephalopathic epilepsy in patients with acute encephalopathy with biphasic seizures and late reduced diffusion. Brain Dev. 2023 Dec 18:S0387-7604(23)00194-8. doi: 10.1016/j.braindev.2023.12.002. Online ahead of print. PMID: 38114348
   15. Impact of dog and/or cat ownership on functional constipation at 3 years of age: the Japan Environment and Children’s study. Japan Environment and Children’s Study (JECS) Group. BMC Pediatr. 2023 Nov 23;23(1):595. doi: 10.1186/s12887-023-04412-4. PMID: 37996790
   16. Quantitative evaluation of citrullinated fibrinogen for detection of neutrophil extracellular traps. Immunol Res. 2023 Dec 12. doi: 10.1007/s12026-023-09446-5. Online ahead of print. PMID: 38087184
   17. Associations between prenatal exposure to per- and polyfluoroalkyl substances and wheezing and asthma symptoms in 4-year-old children: The Japan Environment and Children’s Study. Japan Environment and Children’s Study (JECS) Group.Environ Res. 2024 Jan 1;240(Pt 1):117499. doi: 10.1016/j.envres.2023.117499. Epub 2023 Oct 31. PMID: 37914018
   18. Impact of breastfeeding during infancy on functional constipation at 3 years of age: the Japan Environment and Children’s Study. Japan Environment and Children’s Study (JECS) Group.Int Breastfeed J. 2023 Nov 6;18(1):57. doi: 10.1186/s13006-023-00592-y. PMID: 37926840
   19. Neurodevelopment and physical measurements in infants with birthweight of 500 grams or less. Pediatr Int. 2023 Jan-Dec;65(1):e15689. doi: 10.1111/ped.15689. PMID: 37991183
   20. Reanalysis of Chromosomal Microarray Data Using a Smaller Copy Number Variant Call Threshold Identifies Four Cases with Heterozygous Multiexon Deletions of ARID1B, EHMT1, and FOXP1 Genes. Mol Syndromol. 2023 Oct;14(5):394-404. doi: 10.1159/000530252. Epub 2023 May 23. PMID: 37901861
   21. Characterization of novel truncated apolipoprotein A-I in human high-density lipoprotein generated by sequential treatment with myeloperoxidase and chymase.　 Biochimie. 2023 Sep 28;218:34-45. doi: 10.1016/j.biochi.2023.09.024. Online ahead of print. PMID: 37774825
   22. Bacteriological and molecular characterization of temperature- and CO2-dependent Streptococcus pneumoniae serotype 24F ST162 isolated from Japanese children. Microbiol Spectr. 2023 Oct 12:e0216523. doi: 10.1128/spectrum.02165-23. Online ahead of print.PMID: 37823633
   23. Targeted temperature management at 36°C is a risk factor for ventilator-associated pneumonia. Pediatr Int. 2023 Jan-Dec;65(1):e15556. doi: 10.1111/ped.15556. PMID: 37368497
   24. A serial analysis of serum aspartate aminotransferase levels in patients with acute encephalopathy with biphasic seizures and late reduced diffusion and prolonged febrile seizure. Brain Dev. 2023 Jun 23:S0387-7604(23)00104-3. doi: 10.1016/j.braindev.2023.06.003. PMID: 37357027
   25. Improvement in bilirubin influence on cholesterol efflux capacity evaluation using the immobilized liposome-bound gel beads method. Biosci Rep. 2023 Jun 1:BSR20230393. doi: 10.1042/BSR20230393. Online ahead of print. PMID: 37259987
   26. Prospective cohort study for postnatal cytomegalovirus infection in preterm infants. J Obstet Gynaecol Res. 2023 Mar 8. doi: 10.1111/jog.15628. Online ahead of print. PMID: 36890689
   27. Early Phase Increase in Serum TIMP-1 in Patients with Acute Encephalopathy with Biphasic Seizures and Late Reduced Diffusion. Children (Basel). 2022 Dec 30;10(1):78. doi: 10.3390/children10010078.PMID: 36670630
   28. Development and validation of novel automatable assay for cholesterol efflux capacity. Biosci Rep. 2023 Jan 16:BSR20221519. doi: 10.1042/BSR20221519. Online ahead of print. PMID: 36645426
   29. Partial Efficacy of Vigabatrin in an Infant with West Syndrome due to Pyruvate Dehydrogenase Complex Deficiency: A Case Report. Pediatr Neurol. 2022 Nov 2;138:98-100. doi: 10.1016/j.pediatrneurol.2022.10.012. Online ahead of print. PMID: 36436329
   30. Basophil activation test for allergic and febrile non-haemolytic transfusion reactions among paediatric patients with haematological or oncological disease. Vox Sang. 2022 Oct 12. doi: 10.1111/vox.13365. Online ahead of print.PMID: 36224113
   31. Development of Free 25-Hydroxyvitamin D3 Assay Method Using Liquid Chromatography-Tandem Mass Spectrometry. Biosci Rep. 2022 Sep 15:BSR20221326. doi: 10.1042/BSR20221326. Online ahead of print.PMID: 36107130
   32. Clinical and molecular features of patients with COL1-related disorders: Implications for the wider spectrum and the risk of vascular complications. Am J Med Genet A. 2022 Sep;188(9):2560-2575. doi: 10.1002/ajmg.a.62887. Epub 2022 Jul 13. PMID: 35822426
   33. Detection of Bacillus cereus as a causative agent of emetic food poisoning by an unconventional culture procedure. J Infect Chemother. 2022 Jul 20:S1341-321X(22)00207-0. doi: 10.1016/j.jiac.2022.07.011. Online ahead of print. PMID: 35870790
   34. Impact of maternal dyslipidemia on infant neurodevelopment: The Japan Environment and Children’s Study. Brain Dev. 2022 May 25:S0387-7604(22)00083-3. doi: 10.1016/j.braindev.2022.05.002. PMID: 35643833
   35. Immature Platelet Fraction and its Kinetics in Neonates. J Pediatr Hematol Oncol. 2022 May 20. doi: 10.1097/MPH.0000000000002487. Online ahead of print.PMID: 35622986
   36. Relationship between allergic transfusion reactions and allergic predisposition among pediatric patients with hematological/oncological disease. Transfusion. 2022 Mar 16. doi: 10.1111/trf.16855. Online ahead of print.PMID: 35297063
   37. Neuropsychological and neurophysiological features of WAGR syndrome: Detailed comprehensive evaluation of a patient with severe intellectual disability and autism spectrum disorder. Brain Dev. 2022 Mar;44(3):229-233. doi: 10.1016/j.braindev.2021.11.006. Epub 2021 Dec 6.PMID: 34876316
   38. High Incidence of Hippocampal Abnormalities in Pediatric Patients with Congenital Cytomegalovirus Infection. Neuropediatrics. 2022 Jan 28. doi: 10.1055/a-1754-1142. Online ahead of print.PMID: 35098496
   39. Novel cholesterol efflux assay using immobilized liposome-bound gel beads: Confirmation and improvement for application in clinical laboratory. Ann Clin Biochem. 2021 Nov 4:45632211054406. doi: 10.1177/00045632211054406. Online ahead of print. PMID: 34719976
   40. Successful treatment of congenital myasthenic syndrome caused by a novel compound heterozygous variant in RAPSN. Brain Dev. 2021 Sep 23:S0387-7604(21)00160-1. doi: 10.1016/j.braindev.2021.09.001. Online ahead of print. PMID: 34565654
   41. Effect of myeloperoxidase oxidation and N-homocysteinylation of high-density lipoprotein on endothelial repair function. Biol Chem. 2021 Aug 25. doi: 10.1515/hsz-2021-0247. Online ahead of print. PMID: 34448387
   42. Investigation of patient factors associated with the number of transfusions required during chemotherapy for high-risk neuroblastoma. Vox Sang. 2021 Jul 1. doi: 10.1111/vox.13128. Online ahead of print.PMID: 34197634.
   43. Sequential Therapy of Inotuzumab Ozogamicin and Blinatumomab as a Bridge-to Hematopoietic Stem Cell Transplantation in a Pediatric Patient With Primary Refractory Acute Lymphoblastic Leukemia: A Case Report. J Pediatr Hematol Oncol. 2021 May 18. doi: 10.1097/MPH.0000000000002205.
   44. Apolipoprotein C-II and C-III preferably transfer to both high-density lipoprotein (HDL)2 and the larger HDL3 from very low-density lipoprotein (VLDL). Biol Chem. 2021 May 26; 402(4):439-449. doi: 10.1515/hsz-2020-0288.
   45. Marked Changes in Serum Amyloid A Distribution and High-Density Lipoprotein Structure during Acute Inflammation. Biomed Res Int. 2021 Jan 27;2021:9241259. doi: 10.1155/2021/9241259.
   46. Relationship between allergic sensitisation-associated single-nucleotide polymorphisms and allergic transfusion reactions and febrile non-haemolytic transfusion reactions in paediatric cases. Blood Transfus. 2021 Feb 3. doi: 10.2450/2021.0230-20.
   47. Cholesterol transport between red blood cells and lipoproteins contributes to cholesterol metabolism in blood. J Lipid Res. 2020 Dec;61(12):1577-1588. doi: 10.1194/jlr.RA120000635.
   48. Highly oxidized low-density lipoprotein does not facilitate platelet aggregation. J Int Med Res. 2020 Oct; 48(10):300060520958960. doi: 10.1177/0300060520958960.
   49. Novel Causative RET Mutation in a Japanese Family with Hirschsprung’s Disease: Case Report and Factors Impacting Disease Severity. J Pediatr Genet. 2020 Oct 5;11(3):240-244. doi: 10.1055/s-0040-1718385. eCollection 2022 Sep.PMID: 35990038
   50. Glycation of HDL polymerizes apolipoprotein M and attenuates its capacity to bind to Sphingosine 1-Phosphate. J Atheroscler Thromb. 2020 Oct 1. doi: 10.5551/jat.55699. Online ahead of print.PMID: 32999208
   51. Comparison of a novel cholesterol efflux assay using immobilized liposome-bound gel beads with the conventional method. Biosci Rep, 2020 Aug 28; 40 (8):BSR20201495. doi: 10.1042/BSR20201495.
   52. A case of pure erythroid leukemia with MYB-GATA1 fusion that developed tumor lysis syndrome with dexamethasone. Pediatr Blood Cancer. 2020 Jul 7:e28285. doi: 10.1002/pbc.28285.

研究支援活動

長野県立こども病院は、全職員を対象に臨床医学研究助成制度を設け、厳正なる審査を通過した職員に研究助成金を授与することによって、研究活動を支援しています。 また、2019年4月から信州大学との連携大学院が開講し、複数名の医師、医療技術職員が社会人大学院生として研究を遂行しています。生命科学研究センターはこれらの大学院生を中心とする全職員の研究支援・指導を通じて、研究マインドを備えた次世代小児医療を担う医療人の育成を目指しています。

臨床医学研究助成制度　採択課題一覧

令和元年度 令和2年度 令和3年度 令和4年度 令和5年度 令和6年度

研究員

研究員名簿

センター長の紹介