Zobrazeno 1 - 10
of 19
pro vyhledávání: '"Ikuko, Hiejima"'
Autor:
Anri Hayashi, Minoru Shibata, Tatsuya Fujii, Fumihito Nozaki, Takashi Kusunoki, Ikuko Hiejima, Tomohiro Kumada
Publikováno v:
American Journal of Medical Genetics Part A. 173:1947-1950
Left ventricular noncompaction cardiomyopathy (LVNC) is characterized by prominent trabecular meshwork, and it is thought to result from arrest of the normal compaction process during embryogenesis. Patients with LVNC may be asymptomatic or have symp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::130f5d3cced3413e51d00b9a30fd0382
https://doi.org/10.1002/ajmg.a.38270
https://doi.org/10.1002/ajmg.a.38270
Autor:
Fumihito, Nozaki, Tomohiro, Kumada, Minoru, Shibata, Anri, Hayashi, Ikuko, Hiejima, Mioko, Mori, Kenji, Inoue, Saeko, Sasaki, Tatsuya, Fujii
Publikováno v:
No to hattatsu = Brain and development. 48(6)
Joubert syndrome is characterized by neonatal breathing disorders that are thought to improve with age, but recent findings indicate that sleep-related breathing disorders can occur even after infancy. A 15-year-old boy who had a breathing disorder d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::c01048ef9dfabc569e1a928a68fbe5ce
https://pubmed.ncbi.nlm.nih.gov/30010293
https://pubmed.ncbi.nlm.nih.gov/30010293
Autor:
Ikuko, Hiejima, Tomohiro, Kumada, Tomoko, Miyajima, Minoru, Shibata, Atsushi, Yokoyama, Fumihito, Nozaki, Anri, Hayashi, Mioko, Mori, Kanako, Maizuru, Tatsuya, Fujii
Publikováno v:
No to hattatsu = Brain and development. 48(6)
Objective: We have frequently applied noninvasive positive pressure ventilation (NPPV) to treat acute respiratory failure in children with severe motor and intellectual disabilities. We investigated the features and causes of conditions requiring end
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::f6391caad1d9235be0b8c05e681c7cce
https://pubmed.ncbi.nlm.nih.gov/30010291
https://pubmed.ncbi.nlm.nih.gov/30010291
Autor:
Anri Hayashi, Takashi Kusunoki, Oki Furukawa, Minoru Shibata, Fumihito Nozaki, Ikuko Hiejima, Tatsuya Fujii, Tomohiro Kumada
Publikováno v:
American Journal of Medical Genetics Part A. 167:2447-2450
Meckel's diverticulum (MD) is the most prevalent congenital anomaly of the gastrointestinal tract and often presents a diagnostic challenge. Patients with trisomy 18 frequently have MD, but the poor prognosis and lack of consensus regarding managemen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f406a72dd5750292e8863073ad26563a
https://doi.org/10.1002/ajmg.a.37098
https://doi.org/10.1002/ajmg.a.37098
Publikováno v:
Braindevelopment. 40(5)
The severity of X-linked myotubular myopathy (XLMTM) ranges from mild to severe, depending on the level of ventilatory support required. Patients with the severe form of XLMTM usually die within the first year of life due to respiratory failure. Most
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4c6b756ff2e403c0af2adfda2dbf638a
https://pubmed.ncbi.nlm.nih.gov/29343419
https://pubmed.ncbi.nlm.nih.gov/29343419
Autor:
Anri Hayashi, Tomohiro Kumada, Masashi Tanaka, Ikuko Hiejima, Keiko Saito, Tatsuya Fujii, Yutaka Nishigaki, Fumihito Nozaki, Yasutoshi Koga, Kei Murayama
Publikováno v:
Molecular Genetics and Metabolism. 112:133-138
Background Disorders of oxidative phosphorylation (OXPHOS) cause an increase in the NADH/NAD + ratio, which impairs the glycolysis pathway. Treatment with pyruvate is expected to decrease the ratio and thereby restore glycolysis. There are some case
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5357352d7c1a1735e750b0728d571792
https://doi.org/10.1016/j.ymgme.2014.04.008
https://doi.org/10.1016/j.ymgme.2014.04.008
Autor:
Tomoko Miyajima, Tomohiro Kumada, Ikuko Hiejima, Fumihito Nozaki, Takashi Kusunoki, Tatsuya Fujii, Anri Hayashi
Publikováno v:
Neuropediatrics. 44:291-294
Febrile infection-related epilepsy syndrome (FIRES) is a severe epileptic syndrome that manifests with refractory seizures or status epilepticus in previously healthy children after banal febrile illness. The neuroimaging findings in the acute phase
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c8b0941b0b57944d4a0a520fb9012a36
https://doi.org/10.1055/s-0033-1348030
https://doi.org/10.1055/s-0033-1348030
Autor:
Ryuichi Nishii, Ikuko Hiejima, Tatsuya Higashi, Tatsuya Fujii, Anri Hayashi, Fumihito Nozaki, Keiko Saito, Tomoko Miyajima, Tomohiro Kumada
Publikováno v:
Brain and Development. 35:91-94
Toothbrushing-induced seizures are rare reflex seizures triggered by the brushing of one's own teeth. We encountered an 11-year-old girl with severe mental retardation, hypotonic cerebral palsy and epilepsy who presented with toothbrushing-induced se
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::878c303472af7b60b9cd56cee77cab4c
https://doi.org/10.1016/j.braindev.2012.03.013
https://doi.org/10.1016/j.braindev.2012.03.013
Autor:
Fumihito, Nozaki, Tomohiro, Kumada, Minoru, Shibata, Anri, Hayashi, Ikuko, Hiejima, Kanako, Maizuru, Atsushi, Yokoyama, Tatsuya, Fujii
Publikováno v:
No to hattatsu = Brain and development. 48(1)
The abdominal complications of Duchenne muscular dystrophy (DMD) include acute gastric dilatation, superior mesenteric artery (SMA) syndrome, ileus and constipation. We report herein a patient with DMD in whom SMA syndrome was successfully treated wi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::8c7225ad638e7336b85fca4b24874d5e
https://pubmed.ncbi.nlm.nih.gov/27012109
https://pubmed.ncbi.nlm.nih.gov/27012109
Autor:
Ikuko, Hiejima, Tomohiro, Kumada, Fumihito, Nozaki, Anri, Hayasi, Tomoko, Miyajima, Tatsuya, Fujii
Publikováno v:
No to hattatsu = Brain and development. 47(1)
Severe muscle hypertonia in patients with the mixed type of tetraplegia may be associated with significant deterioration in the quality of life of the patients. Intermittent use of oral muscle relaxant drugs, for example, Tizanidine (Ternelin), which
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::4c50724b90d79eb9558125bc413e0cbf
https://pubmed.ncbi.nlm.nih.gov/25803908
https://pubmed.ncbi.nlm.nih.gov/25803908