Kazumoto Iijima

Kazumoto Iijima

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Kazumoto Iijima

Publications by authors named "Kazumoto Iijima"

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Bardet-Biedl syndrome in two unrelated patients with identical compound heterozygous SCLT1 mutations.

CEN Case Rep 2020 Apr 6. Epub 2020 Apr 6.

Department of Pediatrics, Kobe University Graduate School of Medicine, 7-5-1, Kusunoki-cho, Chuo-ku, Kobe, Hyogo, 650-0017, Japan.

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http://dx.doi.org/10.1007/s13730-020-00472-yDOI Listing
April 2020

Functional analysis of suspected splicing variants in CLCN5 gene in Dent disease 1.

Clin Exp Nephrol 2020 Mar 22. Epub 2020 Mar 22.

Department of Pediatrics, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Chuo-ku, Kobe, Hyogo, 650-0017, Japan.

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http://dx.doi.org/10.1007/s10157-020-01876-xDOI Listing
March 2020

Clinical and genetic variability of PAX2-related disorder in the Japanese population.

J Hum Genet 2020 Mar 16. Epub 2020 Mar 16.

Department of Pediatrics, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Chuo-ku, Kobe, Hyogo, 650-0017, Japan.

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http://dx.doi.org/10.1038/s10038-020-0741-yDOI Listing
March 2020

A novel truncating PAX2 mutation in a boy with renal coloboma syndrome with focal segmental glomerulosclerosis causing rapid progression to end-stage kidney disease.

CEN Case Rep 2020 Feb 19;9(1):19-23. Epub 2019 Sep 19.

Division of Nephrology and Rheumatology, National Center for Child Health and Development, 2-10-1 Okura, Setagaya-ku, Tokyo, 157-8535, Japan.

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http://dx.doi.org/10.1007/s13730-019-00419-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6990249PMC
February 2020

Combination of furosemide and fludrocortisone as a loading test for diagnosis of distal renal tubular acidosis in a pediatric case.

CEN Case Rep 2020 Feb 8;9(1):81-86. Epub 2019 Nov 8.

Department of Pediatrics, Japanese Red Cross Society Himeji Hospital, 1-12-1 Shimoteno, Himeji, Hyogo, 670-8540, Japan.

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http://dx.doi.org/10.1007/s13730-019-00432-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6990295PMC
February 2020

Withholding and withdrawal of life-sustaining treatments for neonate in Japan: Are hospital practices associated with physicians' beliefs, practices, or perceived barriers?

Early Hum Dev 2020 Feb 4;141:104931. Epub 2019 Dec 4.

Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Hyogo, Japan.

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http://dx.doi.org/10.1016/j.earlhumdev.2019.104931DOI Listing
February 2020

Rituximab therapy for refractory steroid-resistant nephrotic syndrome in children.

Pediatr Nephrol 2020 01 18;35(1):17-24. Epub 2018 Dec 18.

Department of Pediatrics, Kobe University Graduate School of Medicine, 7-5-2, Kusunoki-cho, Chuo-ku, Kobe, Hyogo, 650-0017, Japan.

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http://link.springer.com/10.1007/s00467-018-4166-1
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http://dx.doi.org/10.1007/s00467-018-4166-1DOI Listing
January 2020

Clinical characteristics at the renal replacement therapy initiation of Japanese pediatric patients: a nationwide cross-sectional study.

Clin Exp Nephrol 2020 Jan 20;24(1):82-87. Epub 2019 Sep 20.

Department of Pediatric Nephrology, School of Medicine, Tokyo Women's Medical University, Tokyo, Japan.

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http://dx.doi.org/10.1007/s10157-019-01788-5DOI Listing
January 2020

Comprehensive genetic diagnosis of Japanese patients with severe proteinuria.

Sci Rep 2020 Jan 14;10(1):270. Epub 2020 Jan 14.

Department of Pediatrics, Kobe University Graduate School of Medicine, 7-5-2 Kusunoki-cho, Chuo-ku, Kobe, Hyogo, 650-0017, Japan.

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http://dx.doi.org/10.1038/s41598-019-57149-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6959278PMC
January 2020

Recombinant human thrombomodulin attenuated sepsis severity in a non-surgical preterm mouse model.

Sci Rep 2020 Jan 15;10(1):333. Epub 2020 Jan 15.

Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.

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http://dx.doi.org/10.1038/s41598-019-57265-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6962223PMC
January 2020

MPPH syndrome with aortic coarctation and macrosomia due to CCND2 mutations.

Pediatr Int 2020 Jan 19;62(1):115-117. Epub 2020 Jan 19.

Department of Pediatrics, Kobe University Graduate School of Medicine, Chuo-ku, Kobe, Japan.

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http://dx.doi.org/10.1111/ped.14068DOI Listing
January 2020

Crescentic IgA nephropathy in children.

Pediatr Nephrol 2020 Jan 28. Epub 2020 Jan 28.

Clinical Research Center, Wakayama Medical University, Wakayama City, Wakayama, Japan.

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http://dx.doi.org/10.1007/s00467-020-04483-wDOI Listing
January 2020

An infant with refractory cytomegalovirus-induced thrombocytopenia.

Clin Case Rep 2020 Jan 17;8(1):75-78. Epub 2019 Dec 17.

Department of Pediatrics Kobe University Graduate School of Medicine Kobe Japan.

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http://dx.doi.org/10.1002/ccr3.2581DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6982504PMC
January 2020

A Case of Gitelman Syndrome that Was Difficult to Distinguish from Hypokalemic Periodic Paralysis Caused by Graves' Disease.

J Nippon Med Sch 2019 Dec 17;86(5):301-306. Epub 2019 May 17.

Department of Endocrinology, Diabetes and Metabolism, Graduate School of Medicine, Nippon Medical School.

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http://dx.doi.org/10.1272/jnms.JNMS.2019_86-505DOI Listing
December 2019

Pharmacokinetic assessment of alprazolam-induced neonatal abstinence syndrome using physiologically based pharmacokinetic model.

Drug Metab Pharmacokinet 2019 Dec 19;34(6):400-402. Epub 2019 Sep 19.

Department of Pharmacy, Kobe University Hospital, Kobe, Japan.

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http://dx.doi.org/10.1016/j.dmpk.2019.09.002DOI Listing
December 2019

Inherited salt-losing tubulopathy: an old condition but a new category of tubulopathy.

Pediatr Int 2019 Dec 12. Epub 2019 Dec 12.

Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.

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http://dx.doi.org/10.1111/ped.14089DOI Listing
December 2019

Insulin Therapy for Hyperglycemia in Neonatal Sepsis Using a Preterm Mouse Model.

Pediatr Int 2019 Dec 29. Epub 2019 Dec 29.

Department of Pediatric Surgery, Kobe University Graduate School of Medicine, Kobe, Japan.

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http://dx.doi.org/10.1111/ped.14126DOI Listing
December 2019

DNA methylation of the Rtl1 promoter in the placentas with fetal growth restriction.

Pediatr Neonatol 2019 10 5;60(5):512-516. Epub 2019 Jan 5.

Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.

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https://linkinghub.elsevier.com/retrieve/pii/S18759572183055
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http://dx.doi.org/10.1016/j.pedneo.2019.01.001DOI Listing
October 2019

Fibrocartilaginous Embolism of the Spinal Cord in Children: A Case Report and Review of Literature.

Pediatr Neurol 2019 10 26;99:3-6. Epub 2019 Apr 26.

Department of Pediatrics, Kobe University Graduate School of Medicine, Hyogo, Japan.

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http://dx.doi.org/10.1016/j.pediatrneurol.2019.04.013DOI Listing
October 2019

Rapidly Progressive Nephronophthisis in a 2-Year-Old Boy with a Homozygous SDCCAG8 Mutation.

Tohoku J Exp Med 2019 09;249(1):29-32

Department of Pediatrics, Kobe University Graduate School of Medicine.

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http://dx.doi.org/10.1620/tjem.249.29DOI Listing
September 2019

Association between the clinical presentation of congenital anomalies of the kidney and urinary tract (CAKUT) and gene mutations: an analysis of 66 patients at a single institution.

Pediatr Nephrol 2019 08 1;34(8):1457-1464. Epub 2019 Apr 1.

Division of Nephrology and Rheumatology, National Center for Child Health and Development, 2-10-1 Okura, Setagaya-ku, Tokyo, 157-8535, Japan.

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http://dx.doi.org/10.1007/s00467-019-04230-wDOI Listing
August 2019

Epidemiology and clinical features of childhood-onset anti-neutrophil cytoplasmic antibody-associated vasculitis: a clinicopathological analysis.

Pediatr Nephrol 2019 08 10;34(8):1425-1433. Epub 2019 May 10.

Department of Pediatrics, Graduate School of Medicine, Yokohama City University, 3-9 Fuku-ura, Kanazawa-ku, Yokohama, 236-0004, Japan.

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http://dx.doi.org/10.1007/s00467-019-04228-4DOI Listing
August 2019

Phenotypic differences and similarities of monozygotic twins with maturity-onset diabetes of the young type 5.

J Diabetes Investig 2019 Jul 15;10(4):1112-1115. Epub 2019 Feb 15.

Division of Diabetes and Endocrinology, Department of Internal Medicine, Kobe University Graduate School of Medicine, Kobe, Japan.

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http://dx.doi.org/10.1111/jdi.13004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6626997PMC
July 2019

Male CDPX2 patient with EBP mosaicism and asymmetrically lateralized skin lesions with strict midline demarcation.

Am J Med Genet A 2019 07 29;179(7):1315-1318. Epub 2019 Apr 29.

Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.

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http://dx.doi.org/10.1002/ajmg.a.61159DOI Listing
July 2019

A case report of thin basement membrane nephropathy accompanied by sporadic glomerulocystic kidney disease.

BMC Nephrol 2019 07 9;20(1):248. Epub 2019 Jul 9.

Internal Medicine 1, Hamamatsu University School of Medicine, 1-20-1 Handayama, Higashi-ku Hamamatsu, 431-3192, Japan.

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http://dx.doi.org/10.1186/s12882-019-1451-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6617628PMC
July 2019

Feeding interval and use of donor breast milk for very low birthweight infants: A nationwide survey in Japan.

Pediatr Neonatol 2019 06 21;60(3):245-251. Epub 2018 Jul 21.

Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan; Department of Pediatrics, Nihon University School of Medicine, Tokyo, Japan.

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http://dx.doi.org/10.1016/j.pedneo.2018.07.006DOI Listing
June 2019

The prescription rates of glucagon for hypoglycemia by pediatricians and physicians are low in Japan.

Endocrine 2019 05 26;64(2):233-238. Epub 2018 Oct 26.

Department of Pediatrics, Kobe University Graduate School of Medicine, 7-5-1, Kusunoki-cho, Chuo-ku, Kobe, 6500017, Japan.

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http://dx.doi.org/10.1007/s12020-018-1793-zDOI Listing
May 2019

Establishment of X-linked Alport syndrome model mice with a R471X mutation.

Biochem Biophys Rep 2019 Mar 12;17:81-86. Epub 2018 Dec 12.

Pharmaceutical Research Division, Takeda Pharmaceutical Company Limited, 2-26-1, Muraoka-Higashi, Fujisawa, Kanagawa, 251-8555, Japan.

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http://dx.doi.org/10.1016/j.bbrep.2018.12.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6295608PMC
March 2019

Germline mosaicism is a pitfall in the diagnosis of "sporadic" X-linked Alport syndrome.

J Nephrol 2019 Feb 30;32(1):155-159. Epub 2018 Jul 30.

Department of Pediatrics, Hokkaido University Graduate School of Medicine, North 15, West 7, Sapporo, Hokkaido, 060-8638, Japan.

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http://dx.doi.org/10.1007/s40620-018-0518-yDOI Listing
February 2019

TGFBI-associated corneal dystrophy and nephropathy: a novel syndrome?

CEN Case Rep 2019 02 7;8(1):14-17. Epub 2018 Aug 7.

Department of Pediatrics, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Chuo-ku, Kobe, Hyogo, 650-0017, Japan.

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http://dx.doi.org/10.1007/s13730-018-0356-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6361082PMC
February 2019

Renal-hepatic-pancreatic dysplasia-1 diagnosed on comprehensive gene analysis.

Pediatr Int 2019 Feb 7;61(2):210-212. Epub 2019 Feb 7.

Department of Nephrology, Hyogo Prefectural Kobe Children's Hospital, Kobe, Hyogo, Japan.

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http://dx.doi.org/10.1111/ped.13758DOI Listing
February 2019

Effective response to azacitidine in a child with a second relapse of myeloid leukemia associated with Down syndrome after bone marrow transplantation.

Pediatr Blood Cancer 2018 12 11;65(12):e27414. Epub 2018 Sep 11.

Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.

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http://dx.doi.org/10.1002/pbc.27414DOI Listing
December 2018

Ocular findings in a case of Pierson syndrome with a novel mutation in laminin ß2 gene.

J AAPOS 2018 Oct 16;22(5):401-403.e1. Epub 2018 Aug 16.

Department of Ophthalmology, Kyushu University Graduate School of Medical Sciences, Fukuoka City, Japan.

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http://dx.doi.org/10.1016/j.jaapos.2018.03.016DOI Listing
October 2018

Neonatal vitamin K deficiency in the son of a mother with short bowel syndrome.

Pediatr Int 2018 Oct 8;60(10):991-992. Epub 2018 Oct 8.

Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.

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http://doi.wiley.com/10.1111/ped.13684
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http://dx.doi.org/10.1111/ped.13684DOI Listing
October 2018

Intron-retained transcripts of the spinal muscular atrophy genes, SMN1 and SMN2.

Brain Dev 2018 Sep 23;40(8):670-677. Epub 2018 Mar 23.

Department of Community Medicine and Social Healthcare Science, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Chuo-ku, Kobe 650-0017, Japan.

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http://dx.doi.org/10.1016/j.braindev.2018.03.001DOI Listing
September 2018

Hyperbilirubinemia in Term Newborns Needing Phototherapy within 48 Hours after Birth in a Japanese Birth Center.

Kobe J Med Sci 2018 Sep 11;64(1):E20-E25. Epub 2018 Sep 11.

Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6192821PMC
September 2018

Idiopathic nephrotic syndrome in children.

Lancet 2018 07 14;392(10141):61-74. Epub 2018 Jun 14.

Department of Paediatrics, University of Toronto, Toronto, ON, Canada; Division of Nephrology, The Hospital for Sick Children, Toronto, ON, Canada; Child Health Evaluative Sciences, Research Institute, Hospital for Sick Children, Toronto, ON, Canada; University Health Network, Toronto, ON, Canada; Dalla Lana School of Public Health, and Health Policy, Management and Evaluation, University of Toronto, Toronto, ON, Canada. Electronic address:

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http://dx.doi.org/10.1016/S0140-6736(18)30536-1DOI Listing
July 2018

Hepatitis B vaccine: Immunogenicity in an extremely low-birthweight infant.

Pediatr Int 2018 May;60(5):489-490

Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.

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http://dx.doi.org/10.1111/ped.13547DOI Listing
May 2018

Nontypeable Haemophilus Influenzae Sepsis in a Term Neonate.

Kobe J Med Sci 2018 Apr 19;63(4):E105-E108. Epub 2018 Apr 19.

Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6192819PMC
April 2018

A Case of Congenital Complete Atrioventricular Block Treated with Transdermal Tulobuterol.

Kobe J Med Sci 2018 Apr 19;63(4):E109-E112. Epub 2018 Apr 19.

Department of Obstetrics and Gynecology, Kobe University Graduate School of Medicine, Kobe, Japan.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6192816PMC
April 2018

Cardiac Dysfunction in Duchenne Muscular Dystrophy Is Less Frequent in Patients With Mutations in the Dystrophin Dp116 Coding Region Than in Other Regions.

Circ Genom Precis Med 2018 01;11(1):e001782

From the Department of Clinical Laboratory, Kobe University Hospital, Kobe, Japan (T.Y., S.K., I.S., T.I., N.H., J.S.); Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan (H.A., M. Matsumoto, M.N., K.I.); Department of Pathology, Medical School of Nankai University, Tianjin, China (Z.Z.); Department of Physical Therapy, Faculty of Rehabilitation, Kobe Gakuin University, Kobe, Japan (Z.Z., M. Matsuo); and Department of Clinical Epidemiology, Hyogo College of Medicine, Nishinomiya, Japan (M.E.-S.).

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https://www.ahajournals.org/doi/10.1161/CIRCGEN.117.001782
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http://dx.doi.org/10.1161/CIRCGEN.117.001782DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6319568PMC
January 2018