Zobrazeno 1 - 10
of 17
pro vyhledávání: '"Tsunenori, Hirayama"'
Autor:
Tsunenori, Hirayama, Harumi, Saijo, Toshihiko, Kohji, Takanori, Ezoe, Sui, Sone, Katsuhito, Araki, Hiroshi, Hamaguchi, Hisaharu, Suzuki, Kiyoko, KKurata
Publikováno v:
No to hattatsu = Brain and development. 49(1)
Objective: Anti-epileptic drugs, such as carbamazepine (CBZ) or phenytoin, may induce hypothyroidism in epilepsy patients. We assessed thyroid function of chronic patients with severe motor and intellectual disabilities (SMID) in our hospital. Method
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::3ed6b082fc860f7a7a04b1016cff6b42
https://pubmed.ncbi.nlm.nih.gov/30011149
https://pubmed.ncbi.nlm.nih.gov/30011149
Autor:
Takanori Ezoe, Tsunenori Hirayama, Hisaharu Suzuki, Harumi Saijo, Sui Sone, Hiroshi Hamaguchi, Kiyoko Kurata, Mayumi Iwata-Okada, Katsuhito Araki, Yoshiko Takeda
Publikováno v:
Journal of the Japan Epilepsy Society. 28:409-415
カルバマゼピン（CBZ）による抗利尿ホルモン不適合分泌症候群（SIADH）や低Na血症はよく知られた副作用であるが、その機序については不明な点が多い。今回、我々はMRI画像やホルモン検
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::aab4547ff6950350067594a2c2d1c6e3
https://doi.org/10.3805/jjes.28.409
https://doi.org/10.3805/jjes.28.409
Autor:
Tsunenori Hirayama
Publikováno v:
Journal of Nippon Medical School. 77:40-44
I previously described the case of a 19 year-old female with severe mental retardation, developmental retardation, microcephalus, short stature, bilateral microphthalmia, ptosis and blepharophimosis(1). Now, I present clinical descriptions of her hal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6530c6500a899e56af67d323fe3d4634
https://doi.org/10.1272/jnms.77.40
https://doi.org/10.1272/jnms.77.40
Autor:
Tohru Egashira, Tsunenori Hirayama, Jun Ishii, Mitsuru Emi, Hiroaki Hattori, Takeshi Kujiraoka, Makoto Nagano, Yukiko Nobe, Masahiro Tsuji
Publikováno v:
Journal of Human Genetics. 47:80-87
In the course of investigations of familial coronary artery disease in Hokkaido, the northland of Japan, we identified 13 families affected by familial hypercholesterolemia. Among them, we identified eight novel mutations of the low-density lipoprote
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bbf9f46fc5cdc396251c316d1b179ade
https://doi.org/10.1007/s100380200005
https://doi.org/10.1007/s100380200005
Autor:
Roger R. Williams, Toshiaki Nakajima, Paul N. Hopkins, Harumi Katsumata, Yukiko Nobe, Mitsuru Emi, Susan H. Stephenson, Lily Wu, Tsunenori Hirayama, Yuanpei Xin
Publikováno v:
Journal of Human Genetics. 44:364-367
Heterozygous familial hypercholesterolemia (FH) is a serious disorder causing twice normal low-density lipoprotein (LDL) cholesterol levels early in childhood and very early coronary disease in both men and women. Treatment with multiple medications
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7bddd354bfbfa8258a240e19781fec19
https://doi.org/10.1007/s100380050179
https://doi.org/10.1007/s100380050179
Autor:
Vitaily Pozharov, Roger R. Williams, Emi Yamaki, Lily Wu, Tsunenori Hirayama, Harumi Katsumata, Mitsuru Emi, Paul N. Hopkins
Publikováno v:
Japanese Heart Journal. 39:785-789
In the course of investigations of coronary artery disease in Utah, we identified a family whose proband showed elevated plasma levels of LDL cholesterol. To determine the genetic etiology of the lipoprotein abnormalities, we screened DNA samples for
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4a83dfb8076b9af861052e9449b6c767
https://doi.org/10.1536/ihj.39.785
https://doi.org/10.1536/ihj.39.785
Publikováno v:
Japanese Heart Journal. 39:681-686
Plasma lipid and lipoprotein levels reflect in part the influence of relevant genetic loci. Defects at some of these loci account for specific types of dyslipoproteinemia occurring with regularity among family members. In the course of familial inves
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3bf5f20f757ccbd9404bfdc003a78797
https://doi.org/10.1536/ihj.39.681
https://doi.org/10.1536/ihj.39.681
Publikováno v:
No to hattatsu = Brain and development. 36(5)
Adult patients with Down syndrome show psychological symptoms and early senility. Improving their environment and dealing with their complaints and stress should first address their behavioral problems, such as self-injury, depression, aggression and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::0ebb2bcee5186fd6d9b2f73e4108141a
https://pubmed.ncbi.nlm.nih.gov/15461027
https://pubmed.ncbi.nlm.nih.gov/15461027
Publikováno v:
No to hattatsu = Brain and development. 36(3)
We report a case of 13-year-old girl with short stature, microcephalus, blepharophimosis, ptosis, bilateral microphthalmia (more prominent in the right), hypogonadism, other minor anomalies, and severe mental retardation. Her mother had two spontaneo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::9d04e2eb7b16620a39c782abd6f182aa
https://pubmed.ncbi.nlm.nih.gov/15176598
https://pubmed.ncbi.nlm.nih.gov/15176598
Autor:
Osamu Fujino, Kentaro Kuwabara, Yasuhiko Kawakami, Tsunenori Hirayama, Kiyoshi Hashimoto, Takehisa Fujita
Publikováno v:
Journal of Nippon Medical School = Nippon Ika Daigaku zasshi. 70(4)
We report a case of adversive seizures featuring neck rotation and conjugate deviation induced by the hyperventilation maneuver. At the age of 6 years the patient suffered from conjugate deviation to the left. She herself felt no symptoms other than
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::963b23c9fd00fb67fe0ab883fb001374
https://pubmed.ncbi.nlm.nih.gov/12928716
https://pubmed.ncbi.nlm.nih.gov/12928716