論文 - 中馬 秀樹
-
41st Annual Meeting of the Japanese Neuro-Ophthalmology society 査読あり
中馬 秀樹
Journal of Neuro-Opthalmology 24 ( 2 ) 170 - 174
記述言語:日本語 掲載種別:研究論文(学術雑誌)
-
動眼神経線維束症候群とはなんですか 査読あり
中馬 秀樹
あたらしい眼科 ( 21 ) 41 - 43
記述言語:日本語 掲載種別:研究論文(学術雑誌)
-
動脈炎虚血性視神経症は日本ではないのですか 査読あり
中馬 秀樹
あたらしい眼科 ( 21 ) 61 - 64
記述言語:日本語 掲載種別:研究論文(学術雑誌)
-
私の学んだ臨床神経眼科 査読あり
中馬 秀樹
神経眼科 21 ( 3 ) 329 - 334
記述言語:日本語 掲載種別:研究論文(学術雑誌)
-
私の学んだ臨床神経眼科 第2回 眼痛のみかた 査読あり
中馬 秀樹
神経眼科 21 ( 4 ) 445 - 451
記述言語:日本語 掲載種別:研究論文(学術雑誌)
-
GULDEN社製Maddox付遮眼子の臨床的有用性 査読あり
池田 福美,遠藤寛子,中馬 秀樹
日本視能訓練士協会誌 ( 33 ) 141 - 144
記述言語:日本語 掲載種別:研究論文(学術雑誌)
-
ハンフリー10-2プログラムが診断に有用であった同名性孤立暗点を生じた二例 査読あり
遠藤寛子,池田福美,中馬 秀樹
日本視能訓練士協会誌 34 185 - 189
記述言語:日本語 掲載種別:研究論文(学術雑誌)
-
特集 視神経炎診療のブレークスルー-病態理解から新規治療まで 【治療法の特性・副作用】 抗インターロイキン6抗体製剤
中馬 秀樹
臨床眼科 77 ( 2 ) 216 - 221 2023年2月
-
Watanabe T., Uehara H., Takeishi G., Chuman H., Azuma M., Yokogami K., Takeshima H.
World Neurosurgery 170 e817 - e826 2023年2月
記述言語:日本語 掲載種別:研究論文(学術雑誌) 出版者・発行元:World Neurosurgery
Objective: Craniopharyngiomas remain surgically challenging because of the strong adhesion to vital neurovascular structures. We propose a system for the selection of surgical approaches based on the optic recess (OR) displacement pattern to facilitate surgical planning and obtain optimum visual and endocrinologic outcomes. Methods: Craniopharyngiomas were divided into 3 types based on the OR displacement pattern: superior, anterior, and involvement types. Selected surgical approaches and patient outcome were retrospectively reviewed according to these classifications. Visual and endocrinologic outcomes were compared among the groups. Results: This study included 26 patients with primary craniopharyngiomas who underwent surgery at our institution, classified into 11 anterior, 11 superior, and 4 involvement types. The extended endoscopic endonasal approach provided excellent exposure inferodorsal aspect of the chiasm for manipulation of the dissection plane in the anterior and superior types with midline location. A unilateral subfrontal approach was required for tumor of the superior type with lateral extension. An interhemispheric translamina terminalis approach could provide safe dissection under direct vision of strong adhesion at the superior aspect of the chiasm in the involvement type. Visual and endocrinologic outcomes were better in the involvement type compared with the superior and anterior types. Visual outcome was significantly correlated with preoperative visual function. Conclusions: Craniopharyngiomas with the involvement type are indicated for the translamina terminalis approach to achieve the best visual and endocrinologic outcome. Our classification of the OR displacement pattern is useful to select the optimal surgical approach for craniopharyngiomas more accurately and concisely, especially in cases with third ventricular extension.
-
第29回九州神経眼科セミナー印象記
中馬 秀樹
神経眼科 39 ( 4 ) 334 - 336 2022年12月
-
Takano F., Ueda K., Godefrooij D.A., Yamagami A., Ishikawa H., Chuman H., Ishikawa H., Ikeda Y., Sakamoto T., Nakamura M.
Orphanet Journal of Rare Diseases 17 ( 1 ) 319 2022年12月
記述言語:日本語 掲載種別:研究論文(学術雑誌) 出版者・発行元:Orphanet Journal of Rare Diseases
Background: Leber hereditary optic neuropathy (LHON) is an acute or subacute optic neuropathy that mainly affects young males. The first nationwide epidemiological survey of LHON was conducted in 2014 in Japan, and LHON was officially designated as a rare intractable disease by the Japanese government in 2015. We conducted a second survey of the annual incidence of LHON in 2019, and estimated the total number of patients with LHON in Japan. Results: A questionnaire was sent to 997 facilities accredited by the Japanese Ophthalmological Society and/or affiliated with the councilors of the Japanese Neuro-Ophthalmology Society. Responses were received from 791 facilities, with a response rate of 79%. Fifty-five newly diagnosed cases (49 males and 6 females) of LHON were reported from 35 institutions in 2019, with a median age of 28.5 for males and 49.5 years for females. The total number of newly diagnosed cases was calculated as 69 (62 were males and 7 were females, 95% confidence interval 55–83), and the total number of patients was estimated to be 2491 (95% confidence interval: 1996–2986), suggesting a prevalence of LHON in Japan of 1:50,000. Conclusion: The incidence of LHON in 2019 was lower than the estimate in 2014, whereas its prevalence may be similar to that reported in other countries. The accurate estimation of the incidence and prevalence of patients with LHON requires prospective registration.
-
石川 哲先生を偲んで
中馬 秀樹
神経眼科 39 ( 3 ) 251 - 251 2022年9月
-
A case of adult-onset Wolfram syndrome with compound heterozygous mutations of the WFS1 gene 査読あり
Lee J., Iwasaki T., Kaida T., Chuman H., Yoshimura A., Okamoto Y., Takashima H., Miyata K.
American Journal of Ophthalmology Case Reports 25 101315 2022年3月
記述言語:日本語 掲載種別:研究論文(学術雑誌) 出版者・発行元:American Journal of Ophthalmology Case Reports
Purpose: Wolfram syndrome is a rare genetic disorder characterized by juvenile onset of diabetes mellitus with bilateral optic atrophy. We report a case of adult onset Wolfram syndrome with diabetes mellitus at age 22 and optic atrophy after age 40. The WFS1 gene sequence was analyzed in the patient and her father. Observations: A 46-year-old woman presented with bilateral vision loss. She had developed diabetes mellitus at age 22 and underwent bilateral cataract surgery at age 37. Visual acuity was 20/50 in the right eye and 20/200 in the left eye. The pupillary light reflex was sluggish in both eyes. Fundus examination showed bilateral optic atrophy, but there was no diabetic retinopathy. Cecocentral scotoma of both eyes was observed in Goldmann perimetry. There were no intracranial lesions on magnetic resonance imaging. Audiometry demonstrated high-frequency sensorineural hearing loss. Sequence analysis of the WFS1 gene revealed compound heterozygous mutation: c.908T>C p.L303P and c.1232_1233del, p.S411Cfs*131 in the patient and heterozygous mutation c. 908 T>C, p. L303P in her father. Conclusions and importance: The patient was diagnosed with adult-onset Wolfram syndrome with compound heterozygous mutations of the WFS1 alleles. Wolfram syndrome must be ruled out even in adult-onset diabetic patients with optic atrophy.
-
第28回 九州神経眼科セミナー印象記
中馬 秀樹
神経眼科 38 ( 4 ) 406 - 407 2021年12月
-
特集 覚えておきたい神経眼科疾患 Ⅰ.視神経疾患 6.動脈炎性前部虚血性視神経症
中馬 秀樹
眼科 63 ( 13 ) 1273 - 1279 2021年12月
-
増刊号 この症例このまま診ていて大丈夫? 病診連携にもとづく疾患別眼科診療ガイド 8 神経眼科 視神経炎
中馬 秀樹
臨床眼科 75 ( 11 ) 306 - 311 2021年10月
-
Association of Rare CYP39A1 Variants With Exfoliation Syndrome Involving the Anterior Chamber of the Eye. 査読あり
Aung T, Ozaki M, Chuman Hら
JAMA 2021年5月
掲載種別:研究論文(学術雑誌)
-
Li Z., Wang Z., Lee M.C., Zenkel M., Peh E., Ozaki M., Topouzis F., Nakano S., Chan A., Chen S., Williams S.E.I., Orr A., Nakano M., Kobakhidze N., Zarnowski T., Popa-Cherecheanu A., Mizoguchi T., Manabe S.I., Hayashi K., Kazama S., Inoue K., Mori Y., Miyata K., Sugiyama K., Higashide T., Chihara E., Ideta R., Ishiko S., Yoshida A., Tokumo K., Kiuchi Y., Ohashi T., Sakurai T., Sugimoto T., Chuman H., Aihara M., Inatani M., Mori K., Ikeda Y., Ueno M., Gaston D., Rafuse P., Shuba L., Saunders J., Nicolela M., Chichua G., Tabagari S., Founti P., Sim K.S., Meah W.Y., Soo H.M., Chen X.Y., Chatzikyriakidou A., Keskini C., Pappas T., Anastasopoulos E., Lambropoulos A., Panagiotou E.S., Mikropoulos D.G., Kosior-Jarecka E., Cheong A., Li Y., Lukasik U., Nongpiur M.E., Husain R., Perera S.A., Álvarez L., García M., González-Iglesias H., Cueto A.F.V., Cueto L.F.V., Martinón-Torres F., Salas A., Oguz Ç., Tamcelik N., Atalay E., Batu B., Irkec M., Aktas D., Kasim B., Astakhov Y.S., Astakhov S.Y., Akopov E.L., Giessl A., Mardin C., Hellerbrand C., Cooke Bailey J.N., Igo R.P., Haines J.L., Edward D.P., Heegaard S., Davila S., Tan P., Kang J.H., Pasquale L.R., Kruse F.E., Reis A., Carmichael T.R., Hauser M., Ramsay M.
JAMA - Journal of the American Medical Association 325 ( 8 ) 753 - 764 2021年2月
記述言語:日本語 掲載種別:研究論文(学術雑誌) 出版者・発行元:JAMA - Journal of the American Medical Association
Importance: Exfoliation syndrome is a systemic disorder characterized by progressive accumulation of abnormal fibrillar protein aggregates manifesting clinically in the anterior chamber of the eye. This disorder is the most commonly known cause of glaucoma and a major cause of irreversible blindness. Objective: To determine if exfoliation syndrome is associated with rare, protein-changing variants predicted to impair protein function. Design, Setting, and Participants: A 2-stage, case-control, whole-exome sequencing association study with a discovery cohort and 2 independently ascertained validation cohorts. Study participants from 14 countries were enrolled between February 1999 and December 2019. The date of last clinical follow-up was December 2019. Affected individuals had exfoliation material on anterior segment structures of at least 1 eye as visualized by slit lamp examination. Unaffected individuals had no signs of exfoliation syndrome. Exposures: Rare, coding-sequence genetic variants predicted to be damaging by bioinformatic algorithms trained to recognize alterations that impair protein function. Main Outcomes and Measures: The primary outcome was the presence of exfoliation syndrome. Exome-wide significance for detected variants was defined as P < 2.5 × 10-6. The secondary outcomes included biochemical enzymatic assays and gene expression analyses. Results: The discovery cohort included 4028 participants with exfoliation syndrome (median age, 78 years [interquartile range, 73-83 years]; 2377 [59.0%] women) and 5638 participants without exfoliation syndrome (median age, 72 years [interquartile range, 65-78 years]; 3159 [56.0%] women). In the discovery cohort, persons with exfoliation syndrome, compared with those without exfoliation syndrome, were significantly more likely to carry damaging CYP39A1 variants (1.3% vs 0.30%, respectively; odds ratio, 3.55 [95% CI, 2.07-6.10]; P = 6.1 × 10-7). This outcome was validated in 2 independent cohorts. The first validation cohort included 2337 individuals with exfoliation syndrome (median age, 74 years; 1132 women; n = 1934 with demographic data) and 2813 individuals without exfoliation syndrome (median age, 72 years; 1287 women; n = 2421 with demographic data). The second validation cohort included 1663 individuals with exfoliation syndrome (median age, 75 years; 587 women; n = 1064 with demographic data) and 3962 individuals without exfoliation syndrome (median age, 74 years; 951 women; n = 1555 with demographic data). Of the individuals from both validation cohorts, 5.2% with exfoliation syndrome carried CYP39A1 damaging alleles vs 3.1% without exfoliation syndrome (odds ratio, 1.82 [95% CI, 1.47-2.26]; P <.001). Biochemical assays classified 34 of 42 damaging CYP39A1 alleles as functionally deficient (median reduction in enzymatic activity compared with wild-type CYP39A1, 94.4% [interquartile range, 78.7%-98.2%] for the 34 deficient variants). CYP39A1 transcript expression was 47% lower (95% CI, 30%-64% lower; P <.001) in ciliary body tissues from individuals with exfoliation syndrome compared with individuals without exfoliation syndrome. Conclusions and Relevance: In this whole-exome sequencing case-control study, presence of exfoliation syndrome was significantly associated with carriage of functionally deficient CYP39A1 sequence variants. Further research is needed to understand the clinical implications of these findings.
-
Intravenous immunoglobulin treatment for steroid-resistant optic neuritis: a multicenter, double-blind, randomized, controlled phase III study 査読あり
Mimura O, Ishikawa H, Kezuka T, Shikishima K, Suzuki T, Nakamura M, Chuman H, Inoue K, Kimura A, Yamagami A, Mihoya M, Nakao Y
.Jpn J Ophthalmol 2021年1月
掲載種別:研究論文(学術雑誌)
-
Mimura O., Ishikawa H., Kezuka T., Shikishima K., Suzuki T., Nakamura M., Chuman H., Inoue K., Kimura A., Yamagami A., Mihoya M., Nakao Y.
Japanese Journal of Ophthalmology 65 ( 1 ) 122 - 132 2021年1月
記述言語:日本語 掲載種別:研究論文(学術雑誌) 出版者・発行元:Japanese Journal of Ophthalmology
Purpose: To evaluate the efficacy and safety of intravenous “freeze-dried sulfonated human normal immunoglobulin (GGS)” in patients with steroid-resistant optic neuritis (ON). Study design: Multicenter, prospective, double-blind, parallel-group, randomized controlled trial. Methods: Patients with steroid-resistant acute ON were randomly assigned to receive either intravenous GGS (GGS group) or intravenous methylprednisolone (steroid pulse [SP] group). Visual acuity (logarithm of the minimum angle of resolution [logMAR]), mean deviation (MD) value of the Humphrey Field Analyzer, and critical flicker fusion frequency were measured as efficacy endpoints; adverse events (AEs) were assessed as the safety endpoint. Results: Thirty-two patients (16 patients/group) received the study drugs. The primary endpoint, change in logMAR at week 2 compared to baseline, showed no statistically significant intergroup difference. However, compared with the SP group, change in the GGS group was increasingly indicative of visual improvement, with least squares mean difference of > 0.3 logMAR. On post-hoc analyses, the percentage of patients in the GGS and SP groups with improvement by ≥ 0.3 logMAR at week 2 were 75.0% and 31.3%, respectively. Changes in MD values at week 2 compared to baseline were 9.258 ± 8.296 (mean ± standard deviation) dB and 3.175 ± 6.167 dB in the GGS and SP groups, respectively. These results showed statistically significant intergroup differences (visual acuity improvement, P = 0.032; change in MD values, P = 0.030). No clinically significant AEs were observed. Conclusion: Our results suggest that intravenous immunoglobulin could be a safe and efficacious therapeutic option for prompt treatment of steroid-resistant acute ON. Trial registration: JapicCTI-132080.