アジソン・シルダー病
WordNet
- an impairment of health or a condition of abnormal functioning
- caused by or altered by or manifesting disease or pathology; "diseased tonsils"; "a morbid growth"; "pathologic tissue"; "pathological bodily processes" (同)morbid, pathologic, pathological
PrepTutorEJDIC
- (体の)『病気』,疾患 / (精神・道徳などの)病気,病弊
- 女性の話術芸人 =diseur
- 病気にかかった / 病的な,不健全な(morbid)
UpToDate Contents
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English Journal
- Clinical and genetic aspects in twelve korean patients with adrenomyeloneuropathy.
- Park HJ1, Shin HY2, Kang HC3, Choi BO4, Suh BC5, Kim HJ6, Choi YC2, Lee PH2, Kim SM2.Author information 1Department of Neurology, Ewha Womans University School of Medicine, Seoul, Korea. ; Department of Neurology, Yonsei University College of Medicine, Seoul, Korea.2Department of Neurology, Yonsei University College of Medicine, Seoul, Korea.3Department of Pediatrics, Yonsei University College of Medicine, Seoul, Korea.4Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.5Department of Neurology, Kangbuk Samsung Hospital, Sungkyunkwan University School of Medicine, Seoul, Korea.6Department of Neurology, Research Institute and Hospital of National Cancer Center, Goyang, Korea.AbstractPURPOSE: This study was designed to investigate the characteristics of Korean adrenomyeloneuropathy (AMN) patients.
- Yonsei medical journal.Yonsei Med J.2014 May 1;55(3):676-82. doi: 10.3349/ymj.2014.55.3.676. Epub 2014 Apr 1.
- PURPOSE: This study was designed to investigate the characteristics of Korean adrenomyeloneuropathy (AMN) patients.MATERIALS AND METHODS: We retrospectively selected 12 Korean AMN patients diagnosed by clinical analysis and increased plasma content of very long chain fatty acids.RESULTS: All 12 pati
- PMID 24719134
- Deep Brain Stimulation and Dantrolene for Secondary Dystonia in X-Linked Adrenoleukodystrophy.
- van Karnebeek C1, Horvath G, Murphy T, Purtzki J, Bowden K, Sirrs S, Honey CR, Stockler S.Author information 1Division of Biochemical Diseases, Department of Pediatrics, BC Children's Hospital, Vancouver, BC, V5Z 1M9, Canada.AbstractDeep brain stimulation (DBS) has been used to treat secondary dystonias caused by inborn errors of metabolism with varying degrees of effectiveness. Here we report for the first time the application of DBS as treatment for secondary dystonia in a 22-year-old male with X-linked adrenoleukodystrophy (X-ALD). The disease manifested at age 6 with ADHD, tics, and dystonic gait, and deteriorated to loss of ambulation by age 11, and speech difficulties, seizures, and characteristic adrenal insufficiency by age 16. DBS in the globus pallidus internus was commenced at age 18. However, after 25 months, no improvement in dystonia was observed (Burke-Fahn-Marsden (BFM) scores of 65.5 and 62 and disability scores of 28 and 26, pre- and post-DBS, respectively) and the DBS device was removed. Treatment with dantrolene reduced skeletal muscle tone and improved movement (Global Dystonia Rating Scores from 5 to 1 and BFM score 42). Therefore, we conclude that DBS was a safe but ineffective intervention in our case with long-standing dystonia, whereas treatment of spasticity with dantrolene did improve the movement disorder in this young man with X-ALD.
- JIMD reports.JIMD Rep.2014 Apr 10. [Epub ahead of print]
- Deep brain stimulation (DBS) has been used to treat secondary dystonias caused by inborn errors of metabolism with varying degrees of effectiveness. Here we report for the first time the application of DBS as treatment for secondary dystonia in a 22-year-old male with X-linked adrenoleukodystrophy (
- PMID 24718842
- Small nerve fiber involvement is frequent in X-linked adrenoleukodystrophy.
- Horn MA1, Nilsen KB, Jørum E, Mellgren SI, Tallaksen CM.Author information 1From the Department of Neurology (M.A.H., E.J., C.M.E.T., K.B.N.), Oslo University Hospital; University of Oslo (M.A.H., E.J., C.M.E.T.); Department of Neuroscience (K.B.N.), Norwegian University of Science and Technology, Trondheim; Department of Neurology (S.I.M.), University Hospital of Northern Norway; and Department of Clinical Medicine (S.I.M.), UiT The Arctic University of Norway.AbstractOBJECTIVE: To investigate the presence of small nerve fiber dysfunction in subjects with X-linked adrenoleukodystrophy.
- Neurology.Neurology.2014 Apr 9. [Epub ahead of print]
- OBJECTIVE: To investigate the presence of small nerve fiber dysfunction in subjects with X-linked adrenoleukodystrophy.METHODS: Cross-sectional study in which 11 Norwegian subjects (3 males, 8 females) with X-linked adrenoleukodystrophy, phenotypes ranging from asymptomatic to wheelchair-bound with
- PMID 24719486
Related Links
- Addison-Schilder disease symptoms, causes, diagnosis, and treatment information for Addison-Schilder disease (Adrenoleukodystrophy) with alternative diagnoses, full-text book chapters, misdiagnosis, research treatments ...
- Adrenoleukodystrophy Definition Adrenoleukodystrophy is a rare genetic disease characterized by a loss of myelin surrounding nerve cells in the brain and progressive adrenal gland dysfunction. Description Adrenoleukodystrophy ...
★リンクテーブル★
[★]
- 英
- Addison-Schilder disease
- 関
- 副腎脳白質ジストロフィー、シルダー病
[★]
- 疾患:illnessより厳密な概念。「ある臓器に明確な障害が確認され、それによって症状が出ているとはっきり説明できる場合」 (PSY.9)
- 特定の原因、病態生理、症状、経過、予後、病理組織所見が全てそろった場合 (PSY.9)
- something that is very wrong with people's attitudes, way of life or with society.
- 関
- ail、ailment、disease entity、disorder、ill、illness、malady、sick、sickness
- disease ≠ illness ≠ disorder