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• Oral-Facial-Digital Disease Type 1(OFD1)

• Mucopolysaccharidosis (MPS)

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Published Papers 【 display / non-display 】

• Peripheral blood CD19+CD27+CD38+cells in childhood-onset collagen diseases with kidney involvement

  Shimabukuro, W; Kinjo, N; Nakada, S; Hamada, S; Hamada, K; Toyama, M; Shimada, K; Nakayama, N; Nakamura, S; Kaneshi, T; Chinen, Y; Nakanishi, K

  PEDIATRIC NEPHROLOGY   38 ( 7 ) 2407 - 2407   2023.07 [ Peer Review Accepted ]

  Type of publication: Research paper (scientific journal)

• A case of hypoplastic kidneys, ocular coloboma and optic atrophy with de novo mutations in both PAX2 and OPA1 genes

  Shimabukuro, W; Chinen, Y; Yanagi, K; Kaname, T; Nakada, S; Nakayama, N; Nakamura, S; Hamada, K; Kaneshi, T; Kinjo, N; Nakanishi, K

  PEDIATRIC NEPHROLOGY   38 ( 7 ) 2297 - 2297   2023.07 [ Peer Review Accepted ]

  Type of publication: Research paper (scientific journal)

• Two novel variants in POLA1 and TBC1D8B identified in a Japanese patient with failure to thrive, mild intellectual delay, skin pigmentation and renal failure

  Yanagi, K; Chinen, Y; Satou, K; Igarashi, A; Naritomi, K; Nakanishi, K; Matsubara, Y; Kaname, T

  EUROPEAN JOURNAL OF HUMAN GENETICS   31   181 - 181   2023.05 [ Peer Review Accepted ]

  Type of publication: Research paper (scientific journal)

• Fatty acid β-oxidation disorders before and after neonatal tandem mass screening in Okinawa Prefecture, Japan

  Yasutsugu Chinen, Sadao Nakamura, Noriko Nakayama, Tomohide Yoshida,Yoshino Takayama, Keiichi Hara, Go Tajima, Kumiko Yanagi,Tadashi Kaname, Koichi Nakanishi

  Jpn J Neonatal Screening   32 ( 3 ) 318 - 324   2023.02 [ Peer Review Accepted ]

  Type of publication: Research paper (scientific journal)

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  INTRODUCTION: Newborn tandem mass screening(TMS)aims to detect patients before they develop severe physical or central nervous system sequelae. It is necessary to understand the characteristics of the disease detecting by TMS in each region and take countermeasures. We examined the characteristics of fatty acid β-oxidation disorders(FAODs)before and after TMS in Okinawa Prefecture, Japan. METHODS: We investigated the diagnosis, onset, and clinical course of FAODs in two groups: a preTMS group of 7 years (October 2007-September 2014) and a post-TMS group of 6 years (October 2014-September 2020; in 97,598 participants. RESULTS: In a pre-TMS group, 3 patients had carnitine-acylcarnitine translocase(CACT)deficiency. In a post-TMS group, 5 patients had very-long-chain acyl-CoA dehydrogenase(VLCAD)deficiency, 1 patient had carnitine palmitoyl transferase II(CPT2)deficiency, and 1 patient had CACT deficiency. A girl with CPT2 deficiency after the start of TMS was doing well with early treatment with her elder brother's sudden death at age 22 days. All four cases of CACT deficiency were neonatal type, with hypoglycemia, arrhythmia, and hyperammonemia by 2 days of age. All four cases of CACT deficiency had homozygous mutations of the SLC25A20 gene(p.Arg275Gln); a unique variant in Okinawa Prefecture. The initial values of C14/C3 and(C16+C18:1)/C2 were higher than the cutoff in all 6 patients with CPT2 and CACT deficiency. DISCUSSION: The neonatal form of CACT deficiency is highly prevalent in Okinawa Prefecture. Initiation of neonatal TMS has led to awareness of the target diseases and early treatment of patients detected as positive by TMS. It is necessary to establish a long-term follow-up system to improve the prognosis.

• A case of anti-NMDA receptor encephalitis in a 1 year old boy with involuntary movements and abnormal cerebral blood flow distribution on arterial spin labeling (ASL)

  Shimada Kohei, Nakamura Sadao, Kotani Mikako, Nakayama Noriko, Hamada Kazuya, Kaneshi Takuya, Kinjo Noriko, Chinen Yasutugu, Iwai Takeshi, Fukuoka-Araki Kahoru, Takahashi Yukitoshi, Nakanishi Koichi

  NO TO HATTATSU ( The Japanese Society of Child Neurology )  55 ( 4 ) 289 - 293   2023 [ Peer Review Accepted ]

  Type of publication: Research paper (scientific journal)

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  <p>  Anti-N-methyl-D-aspartate receptor (anti-NMDA receptor) encephalitis often presents with psychiatric symptoms and involuntary movements. It is difficult to recognize psychiatric symptoms in infants, making diagnosis difficult. Additionally early diagnosis and treatment are desirable because the clinical symptoms are severe and may leave sequelae. Recently, the usefulness of SPECT and 18F fluorodeoxyglucose positron emission tomography (FDG-PET) as an adjunct diagnosis of anti-NMDA receptor encephalitis has been reported. In this study, we report a case of anti-NMDA receptor encephalitis in a 1 year and 8 months old boy with right-dominant involuntary movements and elevated left cerebral hemisphere blood flow on arterial spin labeling (ASL).</p>

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• Characterization of Marker Chromosomes by FISH Using Microdissected Probes from Old Carnoy-Fixed Cells: Report of Two Cases.

  Chinen. Y, Izumikawa. Y, Naritomi. K

  Jpn J Hum     1900.01