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Design and Efficacy of Surgery for Horizontal Idiopathic Nystagmus with Abnormal Head Posture and Strabismus 被引量:4
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作者 王平 娄丽萍 宋琳 《Journal of Huazhong University of Science and Technology(Medical Sciences)》 SCIE CAS 2011年第5期678-681,共4页
The design and efficacy of surgery for horizontal idiopathic nystagmus (HIN) with abnormal head posture and strabismus were investigated. Different surgical procedures were selected according to the angle of head tu... The design and efficacy of surgery for horizontal idiopathic nystagmus (HIN) with abnormal head posture and strabismus were investigated. Different surgical procedures were selected according to the angle of head turn in 44 cases of HIN with abnormal head posture and strabismus. For patients with a head turn of 15° or less, the Anderson procedure was used; the yoke muscles were recessed upon slow-phase. For patients with a head turn between 15° and 25°, the surgery was designed as a Kestenbaum 5-4-4-5 procedure. For patients with a head turn of 25° or more, the surgery was designed as a Parks 5-8-6-7 procedure. The surgery to correct the abnormal head posture was performed on the fixating eye while that to correct the deviation was then performed on the non-fixating eye at the same time. The amount of surgery of the horizontal rectus muscles on the nonfixating eye was sum of the angle of head turn and the degree of deviation, which was calculated as follows: recession/resection amount of medial and lateral rectis/2×5=angle of head turn±degree of deviation. The results showed as follows: (1) Visual acuity: the visual acuity in the primary ocular position increased two lines or more in 35 patients, accounting for 79.55%. Nine patients had no or only one-line improvement, accounting for 20.45% of the entire study population; (2) The degree of deviation in the primary ocular position: 37 cases had a normal primary ocular position or the degree of deviation ≤8△ after surgery, accounting for 84.09%. Six patients had a residual degree of deviation of 8△―15△, accounting for 13.64%. One patient had a residual degree of deviation 〉20△, accounting for 2.27% of the patients examined; (3) Abnormal head posture: 34 patients had a normal head posture or a head turn of less than 5°, accounting for 72.27%. Eight patients had a residual head turn of 5°―15°, accounting for 18.18%. Two patients had a head turn of 15°― 25°, accounting for 4.55%. It was concluded that different surgical procedures based on the angle of head turn and the relationship between deviation and null zone can eliminate anomalous head posture, correct deviation, and improve vision acuity in the primary ocular position simultaneously. 展开更多
关键词 horizontal idiopathic nystagmus abnormal head posture and strabismus SURGERY
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Clinical features of strabismus and nystagmus in bilateral congenital cataracts 被引量:2
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作者 Sung Soo Hwang Wan Soo Kim Soo Jung Lee 《International Journal of Ophthalmology(English edition)》 SCIE CAS 2018年第5期813-817,共5页
AIM:To evaluate the prevalence,clinical features,and the factors affecting onset of strabismus and nystagmus in patients with bilateral congenital cataracts.METHODS:This study evaluated 116 eyes of 58 patients who u... AIM:To evaluate the prevalence,clinical features,and the factors affecting onset of strabismus and nystagmus in patients with bilateral congenital cataracts.METHODS:This study evaluated 116 eyes of 58 patients who underwent lens removal for the treatment of bilateral congenital cataracts between January 1999 and January 2011.The presence and type of strabismus and nystagmus were determined before and after surgery.Type of strabismus and final visual acuity were compared in patients with and without nystagmus.Patients were divided into three groups(orthotropia/orthotropia,orthotropia/strabismus,and strabismus/strabismus) according to their preoperative and postoperative ocular alignment.Age at cataract surgery and associations of nystagmus and primary intraocular lens(IOL) implantation with strabismus were analyzed.RESULTS:Six patients(10.3%) had strabismus preoperatively and an additional 11(19.0%) developed postoperative strabismus.Exotropia was more common than esotropia both preoperatively and postoperatively.Eighteen patients(31.0%) had postoperative nystagmus,with sensory nystagmus being the most common type.Of the 18 patients with nystagmus,10 had strabismus,with exotropia being more common than esotropia.Postoperative visual acuity was poor in patients with nystagmus.Age at cataract surgery and rate of primary IOL implantation were significantly lower,and postoperative nystagmus was more common,in the orthotropia/strabismus group than in the other two groups.CONCLUSION:Exotropia and sensory nystagmus are common in patients with bilateral congenital cataracts.Age at cataract surgery and rate of IOL implantation are lowerand nystagmus more common in patients with postoperative onset of strabismus.Nystagmus is associated with poor visual prognosis. 展开更多
关键词 bilateral congenital cataracts STRABISMUS nystagmus
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Spectral-domain optical coherence tomography in patients with congenital nystagmus 被引量:1
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作者 Hong Yang, Jiu-Quan Zhang 《International Journal of Ophthalmology(English edition)》 SCIE CAS 2011年第6期627-630,共4页
AIM: To study macular features in patients with congenital nystagmus and to assess the utility of spectral-domain optical coherence tomography (SD-OCT) in nystagmus. METHODS: The macular areas of 51 outpatients with c... AIM: To study macular features in patients with congenital nystagmus and to assess the utility of spectral-domain optical coherence tomography (SD-OCT) in nystagmus. METHODS: The macular areas of 51 outpatients with congenital nystagmus were examined using SD-OCT. Morphological changes in the retinal layers of the macular area were analysed. RESULTS: Macular images were successfully obtained with SD-OCT from 50 (98%) patients. Patients with ocular albinism mainly have macular hypoplasia, abnormal foveal depression, and increased foveal thickness with persistence of an inner nuclear layer, an inner plexiform layer, a ganglion cell layer and a nerve fiber layer. Macular morphology similar to albinism was observed in three patients with idiopathic macular hypoplasia. The OCT findings of cone dystrophy included unclear, disrupted or invisible photoreceptor outer segment/inner segment in the fovea; fusion, thickening and uneven reflection of the outer segment/inner segment with external limiting membrane. Some patients with congenital idiopathic nystagmus showed normal macular morphology and structure, and others showed indistinct macular external limiting membrane reflection. CONCLUSION: SD-OCT is an effective and reliable method to detect the macular morphology of congenital nystagmus patients. This technique has diagnostic value in particular for patients with macular hypoplasia and cone cell dystrophy with no distinct abnormality on fundoscopy. 展开更多
关键词 optical coherence tomography congenital nystagmus macular disease.
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A novel nonsense mutation of GPR143 gene in a Korean kindred with X-linked congenital nystagmus 被引量:2
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作者 Ungsoo Samuel Kim Eunhae Cho Hyon J.Kim 《International Journal of Ophthalmology(English edition)》 SCIE CAS 2016年第9期1367-1370,共4页
Dear Editor,I am Dr.Ungsoo Samuel Kim.from Kim's Eye Hospital,Konyang University,Seoul,Korea.I write to present a novel mutation of GPR143 in Korean patients with X-linked congenital nystagmus by using exome sequenci... Dear Editor,I am Dr.Ungsoo Samuel Kim.from Kim's Eye Hospital,Konyang University,Seoul,Korea.I write to present a novel mutation of GPR143 in Korean patients with X-linked congenital nystagmus by using exome sequencing.Congenital nystagmus is an inherited ocular disorder that can occur as an X-linked condition. 展开更多
关键词 GPR A novel nonsense mutation of GPR143 gene in a Korean kindred with X-linked congenital nystagmus GENE
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Benign paroxysmal positional vertigo with congenital nystagmus: A case report
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作者 Gui-Fang Li Yue-Tang Wang +3 位作者 Xin-Ge Lu Man Liu Chao-Bing Liu Chun-Hua Wang 《World Journal of Clinical Cases》 SCIE 2022年第31期11625-11629,共5页
BACKGROUND Benign paroxysmal positional vertigo(BPPV)is a form of temporary vertigo induced by moving the head to a specific position.It is a self-limited,peripheral,vestibular disease and can be divided into primary ... BACKGROUND Benign paroxysmal positional vertigo(BPPV)is a form of temporary vertigo induced by moving the head to a specific position.It is a self-limited,peripheral,vestibular disease and can be divided into primary and secondary forms.Congenital nystagmus(CN),an involuntary,rhythmic,binocular-symmetry,conjugated eye movement,is found at birth or within 3 mo of birth.According to the pathogenesis,CN can be divided into sensory-defect nystagmus and motordefect nystagmus.The coexistence of BPPV and CN is rarely seen in the clinic.CASE SUMMARY A 62-year-old woman presented to our clinic complaining of a 15-d history of recurrent positional vertigo.The vertigo lasting less than 1 min occurred when she turned over,sometimes accompanied by nausea and vomiting.Both the patient and her father had CN.Her spontaneous nystagmus was horizontal to right;however,the gaze test revealed variable horizontal nystagmus with the same degree when the eyes moved.The patient’s Dix-Hallpike test was normal,except for persistent nystagmus,and the roll test showed severe variable horizontal nystagmus,which lasted for about 20 s in the same direction as her head movement to the right and left,although the right-side nystagmus was stronger than the left-side.Since these symptoms were accompanied by nausea,she was diagnosed with BPPV with CN and treated by manual reduction.CONCLUSION Though rare,if BPPV with CN is correctly identified and diagnosed,reduction treatment is comparably effective to other vertigo types. 展开更多
关键词 congenital nystagmus Benign paroxysmal positional vertigo Case report
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Stereopsis Disorders in Patients with Congenital Nystagmus
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作者 Chunmin Liu, Jingcun YangDepartment of Ophthalmology, Affiliated Hospital of Medical CollegeJinan University, Guangzhou 510632 , ChinaDepartment of Ophthalmology, the First Affiliated Hospital of Henan Medical UniversityZhengzhou 450052, China 《眼科学报》 1997年第1期1-4,共4页
Purpose: To investigate the stereopsis functions in the cases of congenital nystagmus (CN) and determine the relations between nystagmus, visual acuity (VA) and stereoacuity (SA).Methods: The random-dot stereograms wa... Purpose: To investigate the stereopsis functions in the cases of congenital nystagmus (CN) and determine the relations between nystagmus, visual acuity (VA) and stereoacuity (SA).Methods: The random-dot stereograms was used to examine the patients' SA, crossed and uncrossed disparity. The oscillation types of the eyeballs were determined under the naked eyes cooperating with the electronystagmorgraphy ( ENG) examination. VA was measured at 5m and 30cm with distance and near International Standard Charts. The patient was permitted to see the target with his compensatary head posture.Results: Of the 57 patients tested, only 8 cases have normal stereopsis including normal SA,crossed and uncrossed disparity, which are all the jerk nystagmus. Forty-one have abnormal SA including 19 stereoblind, 18 abnormal stereopsis and 4 abnormal SA only. Serious damages of stereopsis exist in most of the pendular and more than half of the jerk nystagmus. The relations between stereopsis and VA are that (1)the better the 展开更多
关键词 先天性眼球震颤 视觉灵敏度 视觉深度知觉
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Factors associated with strabismus after cataract extraction and primary intraocular lens implantation in congenital cataracts 被引量:4
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作者 Soo Jung Lee Wan-Soo Kim 《International Journal of Ophthalmology(English edition)》 SCIE CAS 2014年第3期522-527,共6页
AIM:To evaluate factors associated with the development of strabismus after cataract extraction and primary intraocular lens implantation.METHODS:The medical records of 122 patients,aged1.5mo to 9y,who had undergone c... AIM:To evaluate factors associated with the development of strabismus after cataract extraction and primary intraocular lens implantation.METHODS:The medical records of 122 patients,aged1.5mo to 9y,who had undergone cataract extraction with primary intraocular lens implantation between January1993 and August 2011 were reviewed.Fourteen patients(17 eyes)with strabismus before cataract surgery were excluded.Patients were divided into those with congenital bilateral cataracts(64 patients,128 eyes)and those with unilateral cataracts(44 patients,44 eyes).The associations between the development of strabismus and age at cataract surgery,pre-and post-cataract extraction corrected distance visual acuity(CDVA),interocular CDVA difference,nystagmus,surgical method,and secondary cataract were evaluated.RESULTS:Factors significantly associated with the development of strabismus included age at cataract surgery(≤1y),preoperative mean CDVA≤20/100,presence of nystagmus in the bilateral cataract group and postoperative interocular CDVA difference】20/70 in the unilateral group.Postoperative CDVA≤20/100 and preservation of posterior capsule,and presence of secondary cataract were significant factors in both groups.CONCLUSION:Children with congenital cataracts should be monitored carefully after cataract surgery for the development of strabismus,especially when they underwent surgery at age≤1y,and they have nystagmus,large postoperative interocular CDVA difference,poor preoperative and postoperative CDVA,preservation of the posterior capsule,or secondary cataract. 展开更多
关键词 STRABISMUS congenital cataract nystagmus
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Novel mutation c.980_983delATTA compound with c.986C>A mutation of the FRMD7 gene in a Chinese family with X-linked idiopathic congenital nystagmus 被引量:5
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作者 Feng-wei SONG Bin-bin CHEN +4 位作者 Zhao-hui SUN Li-ping WU Su-juan ZHAO Qi MIAO Xia-jing TANG 《Journal of Zhejiang University-Science B(Biomedicine & Biotechnology)》 SCIE CAS CSCD 2013年第6期479-486,共8页
Objective:To screen mutations in FERM domain-containing protein 7(FRMD7) gene in two Chinese families with X-linked idiopathic congenital nystagmus(XLICN).Methods:Common ophthalmic data and peripheral blood of two Chi... Objective:To screen mutations in FERM domain-containing protein 7(FRMD7) gene in two Chinese families with X-linked idiopathic congenital nystagmus(XLICN).Methods:Common ophthalmic data and peripheral blood of two Chinese XLICN families(families A and B) were collected after informed consent.Genomic DNA was prepared from the peripheral blood of members of the two families and from 100 normal controls.Mutations in the FRMD7 gene were determined by directly sequencing polymerase chain reaction(PCR) products.Results:We identified a novel mutation c.980_983delATTA compound with c.986C>A mutation in the 11th exon of FRMD7 in family B,and a previously reported splicing mutation c.782G>C(p.R261G) in family A.The mutations were detected in patients and female carriers,while they were absent in other relatives or in the 100 normal controls.Conclusions:Our results expand the spectrum of FRMD7 mutations in association with XLICN,and further confirm that the mutations of FRMD7 are the underlying molecular mechanism for XLICN. 展开更多
关键词 MUTATION idiopathic congenital nystagmus FERM domain-containing protein 7(FRMD7)
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Novel variant syndrome associated with congenital hepatic fibrosis
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作者 Yusuf Bayraktar Ozlem Yonem +3 位作者 Kubilay Varl? Hande Taylan Ali Shorbagi Cenk Sokmensuer 《World Journal of Clinical Cases》 SCIE 2015年第10期904-910,共7页
Congenital hepatic fibrosis is part of many different malformation syndromes, of which oculo-encephalohepato-renal syndrome is the most common. These syndromes largely overlap, and so accurate classification of indivi... Congenital hepatic fibrosis is part of many different malformation syndromes, of which oculo-encephalohepato-renal syndrome is the most common. These syndromes largely overlap, and so accurate classification of individual patients may be difficult. We present herein three syndromic siblings who were products of a consanguineous marriage. We investigated in detail at least six organ systems in these patients, namely the liver, brain, eye, kidneys, skeleton, and gonads. The common features observed in these three cases were congenital hepatic fibrosis, retinitis pigmentosa, truncal obesity, rotatory nystagmus, mental retardation, advanced myopia, and high-arched palate. The clinical dysmorphology in these patients was distinct and lacked the major features of the known syndromes associated with congenital hepatic fibrosis. Although some features of these presented cases are similar to those found in Bardet-Biedl syndrome(BBS), the absence of some major criteria of BBS(polydactyly, renal abnormality, and hypogonadism) suggests that this may be a new syndrome. All three patients remain under follow-up in the departments of Gastroenterology, Ophthalmology, and Neurology at Hacettepe University. 展开更多
关键词 congenital hepatic fibrosis nystagmus Mental retardation Retinitis pigmentosa High-arched palate
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1例先天性高胰岛素性低血糖症合并低促性腺激素性腺功能减退症病人的护理
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作者 杨沛 武卫乐 +1 位作者 崔芸 杨琴 《全科护理》 2024年第12期2359-2362,共4页
总结1例因葡萄糖激酶(GCK)基因突变所致的先天性高胰岛素性低血糖症合并低促性腺激素性腺功能减退症病人的护理经验。护理要点:积极动态监测血糖变化规律,管理反复性低血糖,减少神经系统损害;应用微量泵持续皮下脉冲输注促性腺激素释放... 总结1例因葡萄糖激酶(GCK)基因突变所致的先天性高胰岛素性低血糖症合并低促性腺激素性腺功能减退症病人的护理经验。护理要点:积极动态监测血糖变化规律,管理反复性低血糖,减少神经系统损害;应用微量泵持续皮下脉冲输注促性腺激素释放激素(GnRH),促进病人生育力恢复;及时评估与疏导病人心理,做好人文关怀,缓解消极情绪。最终病人症状明显改善,顺利出院。 展开更多
关键词 先天性高胰岛素血症 低血糖症 低促性腺激素性腺功能减退症 护理
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左向右分流减缓肺动脉高压大鼠心脏重构 被引量:1
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作者 纪爽 潘慧 +5 位作者 李天骐 叶梦婷 马铭婕 张学佳 王晓建 杨晓敏 《中国比较医学杂志》 CAS 北大核心 2023年第10期1-7,共7页
目的 左向右分流型先心病相关肺动脉高压患者预后要显著好于特发性肺动脉高压患者,但具体机制不清。本项目旨在制作特发性肺动脉高压与先心病合并肺动脉高压大鼠模型,比较两种模型在肺血管重构和心脏重构方面的异同。方法 雄性SD大鼠分... 目的 左向右分流型先心病相关肺动脉高压患者预后要显著好于特发性肺动脉高压患者,但具体机制不清。本项目旨在制作特发性肺动脉高压与先心病合并肺动脉高压大鼠模型,比较两种模型在肺血管重构和心脏重构方面的异同。方法 雄性SD大鼠分成3组:对照组(n=8),单纯野百合碱(monocrotaline, MCT)组(50 mg/kg)模拟特发性肺动脉高压(n=8);颈部动静脉分流手术+MCT组(50 mg/kg)模拟左向右分流型先心病合并肺动脉高压(n=8)。造模后3周进行超声心动图检测、左右心导管测压和肺组织病理学染色,比较大鼠心肺表型。结果 与对照组相比,单纯MCT组和手术+MCT组大鼠在术后3周右室肥厚、右室功能障碍、平均肺动脉压、肺血管重构等多项指标上均无明显差异。但在左心相关多项指标上,手术+MCT组大鼠显著优于单纯MCT组。与对照组相比,手术+MCT组大鼠舒张期左室腔径(left ventricular internal diame, LVID;d)未降低,左心射血分数(ejection fraction, EF)未升高;手术+MCT组大鼠右心等容收缩期心室内压上升最大速率(maximal ventricular pressure rising rate, dp/dt Max)和等容舒张期心室内压下降最大速率(maximal rate of decrease of ventricular pressure, dp/dt Min)均低于单纯MCT组(P<0.05)。结论 左向右分流手术不能改变MCT诱导产生的肺动脉高压和右心重构,但能够产生左心代偿作用,可能有利于患者预后。本项目动物模型为研究特发性肺动脉高压及先心病相关肺动脉高压的不同病理机制建立基础。 展开更多
关键词 先天性心脏病相关肺动脉高压 特发性肺动脉高压 肺血管重构 动物模型
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误诊为幼年型特发性关节炎的先天性无痛无汗症1例
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作者 豆君 封其华 +3 位作者 程江 鱼敏逸 苏徽 宋晓翔 《安徽医药》 CAS 2023年第1期113-116,共4页
目的分析1例以反复关节部位肿胀为主要表现并误诊为幼年型特发性关节炎(JIA)的先天性无痛无汗症(CIPA)病人的临床诊治经过,以提高对该疾病的认识。方法回顾苏州大学附属儿童医院收治的1例病儿2018年6月至2019年7月的临床与实验室检查资... 目的分析1例以反复关节部位肿胀为主要表现并误诊为幼年型特发性关节炎(JIA)的先天性无痛无汗症(CIPA)病人的临床诊治经过,以提高对该疾病的认识。方法回顾苏州大学附属儿童医院收治的1例病儿2018年6月至2019年7月的临床与实验室检查资料,查阅CIPA相关文献,分析该病例误诊的原因,并进行CIPA的文献总结。结果该例病儿以反复关节部位肿胀起病,初误诊为JIA,但相应治疗效果不佳,最终结合既往病史与详细的体格检查以及影像学表现等,经全外显子测序明确为CIPA,CIPA延迟诊断并误诊为JIA的主要原因包括:对CIPA认识不足,未能把握JIA诊断的排除性特征,采集病史不详细,体格检查未重视痛觉的不敏感等。结论对临床特征不符合典型JIA的病儿,特别是既往长期低热、少汗,体格检查发现痛觉不敏感甚至缺失的病儿,要考虑到先天性无痛无汗症的可能,及时进行基因测序有助于进一步明确诊断,以避免误诊误治。 展开更多
关键词 遗传性感觉和自主神经性神经病 先天性无痛无汗症 幼年型特发性关节炎 误诊
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先天性眼球震颤的临床特征 被引量:9
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作者 戴淑真 张黎 +2 位作者 王海山 张荻 王丽娅 《中华实验眼科杂志》 CAS CSCD 北大核心 2012年第8期749-752,共4页
背景先天性眼球震颤是严重影响患者视觉功能的眼科疾病,但目前对其临床特征完整描述的相关报道尚少见。目的分析先天性眼球震颤的临床特征。方法采用回顾性病例分析的方法,对2005年1月至2011年8月在河南省眼科研究所就诊的先天性眼球... 背景先天性眼球震颤是严重影响患者视觉功能的眼科疾病,但目前对其临床特征完整描述的相关报道尚少见。目的分析先天性眼球震颤的临床特征。方法采用回顾性病例分析的方法,对2005年1月至2011年8月在河南省眼科研究所就诊的先天性眼球震颤患者376例的临床资料进行归纳分析,包括患者家系的系谱分析、眼球震颤类型观察、斜视度测定、视力检查、检影验光、立体视觉测定和对患者有无震动幻觉的调查。结果本组患者就诊的年龄分布以〉5~10岁及〉15~20岁者最多,分别占24.73%和24.20%。本组患者中知觉缺陷型眼球震颤172例,运动缺陷型眼球震颤204例。先天性眼球震颤患者中最常见的遗传方式为常染色体显性遗传;水平眼球震颤为最常见的眼球震颤类型,占73.94%,其次为垂直眼球震颤,占10.11%。本组先天性眼球震颤患者中斜视的患病率为66.36%,知觉缺陷型患者与运动缺陷型患者间斜视的患病率差异无统计学意义(Ⅳ。=3.048,P=0.081)。先天性眼球震颤患者的双眼最佳矫正远视力均较差,知觉缺陷型患者双眼最佳矫正远视力明显低于先天性特发性患者(0.27±0.11VS0.50±0.13),差异有统计学意义(t=16.495,P=0.000)。先天性眼球震颤患者屈光不正的患病率为77.62%,知觉缺陷型患者与运动缺陷型患者间屈光不正患病率的差异无统计学意义(x2=1.337,P=0.248);散光患病率为75.17%,显著高于近视和远视的患病率。65.18%的先天性眼球震颤患者无立体视觉或立体视觉值在3000"以上,运动缺陷型患者有立体视觉者明显多于知觉缺陷型患者,差异有统计学意义(X2=7.058,P:0.008)。313例5岁以上的患者中36例有震动幻觉。结论先天性眼球震颤患者最常见的遗传方式为常染色体显性遗传;水平眼球震颤为其最常见的震颤类型;眼球震颤患者的斜视患病率高,视力和立体视觉较差,特别是知觉缺陷型患者;少数先天性眼球震颤患者有震动幻觉。 展开更多
关键词 眼球震颤/先天性 遗传方式 斜视 视力 立体视 震动幻觉
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先天性脊柱侧弯与特发性脊柱侧弯对肺功能影响的对比分析 被引量:10
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作者 赵大辉 张鹏 +3 位作者 汪建国 王峰 曹璐 李玉香 《吉林大学学报(医学版)》 CAS CSCD 北大核心 2016年第2期326-330,共5页
目的:比较先天性脊柱侧弯(CS)与特发性脊柱侧弯(IS)患者肺功能参数的差异,阐明其对呼吸功能的影响。方法:选择拟行手术治疗的脊柱侧弯患者61例,根据病因分为CS患者组(25例)和IS患者组(36例),分析两类脊柱侧弯患者肺功能参数的改变及其... 目的:比较先天性脊柱侧弯(CS)与特发性脊柱侧弯(IS)患者肺功能参数的差异,阐明其对呼吸功能的影响。方法:选择拟行手术治疗的脊柱侧弯患者61例,根据病因分为CS患者组(25例)和IS患者组(36例),分析两类脊柱侧弯患者肺功能参数的改变及其异同。结果:2组患者年龄、体质量和Cobb角等基线情况相似。CS和IS组中分别有6例和12例存在通气功能障碍,15例和25例存在换气功能障碍。2组患者残气量(RV)、残气量/肺总量(RV/TLC)和残气量/肺总量占预计值百分比(RV/TLC%pred)3项肺功能均异常升高。CS组患者用力肺活量占预计值百分比(FVC%pred)和第1秒用力呼气容积/用力肺活量(FEV1/FVC)显著低于IS组(P<0.05);IS组患者肺活量占预计值百分比(VC%pred)、FVC%pred、第1秒用力呼气容积占预计值百分比(FEV1%pred)、最大呼气中段流量占预计值百分比(MMEF%pred)、最大分钟通气量占预计值百分比(MVV%pred)、肺总量占预计值百分比(TLC%pred)及肺一氧化碳弥散量占预计值百分比(DLCO%pred)与Cobb角均呈负相关关系(r=-0.54^-0.35,P<0.05);CS组患者TLC%pred与Cobb角呈负相关关系(r=-0.047,P<0.05)。结论:不同类型脊柱侧弯对患者的肺功能指标均产生影响,IS患者肺功能损害程度较CS患者更为严重,对生活质量影响更大,需要早期及时处理。 展开更多
关键词 先天性脊柱侧弯 特发性脊柱侧弯 肺功能
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X染色体连锁显性遗传先天性眼球震颤家系的致病基因突变研究 被引量:2
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作者 庄建福 阳菊华 +3 位作者 朱益华 童绎 马旭 赵堪兴 《中国全科医学》 CAS CSCD 北大核心 2012年第9期1015-1018,共4页
目的对4个X染色体连锁显性遗传先天性眼球震颤(XL-CIN)家系进行候选致病基因FRMD7突变筛查。方法采集家系成员外周血5 ml,提取基因组DNA;以4个家系的先证者基因组DNA为模板,聚合酶链反应(PCR)扩增FRMD7基因的全部外显子及其外显子-内含... 目的对4个X染色体连锁显性遗传先天性眼球震颤(XL-CIN)家系进行候选致病基因FRMD7突变筛查。方法采集家系成员外周血5 ml,提取基因组DNA;以4个家系的先证者基因组DNA为模板,聚合酶链反应(PCR)扩增FRMD7基因的全部外显子及其外显子-内含子拼接部的序列,DNA直接测序筛查突变位点;一旦发现突变致病性位点,则采用DNA双向测序方法在其他家系成员进行疾病与致病突变共分离分析,以及进一步确认突变,将患者的FRMD7基因外显子8和10的扩增产物克隆至TA克隆载体测序。结果 4个XL-CIN家系皆为X染色体连锁显性遗传伴外显不全,其中2个家系携带FRMD7基因已知致病性突变:XL-CIN 02家系存在c.G886C/GGT>CGT(p.G296R)错义突变,位于FRMD7基因外显子8;XL-CIN 03家系存在c.C910T/CGA>TGA(p.R304X)无义突变,位于外显子10。结论 FRMD7 G296R和R304X是导致XL-CIN 02和XL-CIN 03家系致病的主要原因。 展开更多
关键词 先天性眼球震颤 基因 突变
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先天性眼球震颤手术效果的眼震电图评定 被引量:8
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作者 杨景存 曹木荣 +2 位作者 王国军 张志强 武亚东 《眼科研究》 CSCD 1991年第4期219-221,共3页
报告了21例先天性眼球震颤手术治疗前后眼震图对比情况,提示手术总有效率为76.2%,列举了典型病例的手术前后眼震图检查结果,并探讨了采用脑电图机作眼震图检查的方法和特点。
关键词 先天性眼球震颤 眼震电图 眼外科手术
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特发性与先天性脊柱侧凸患者肺功能障碍的差异性比较 被引量:13
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作者 黄爱兵 邱勇 +3 位作者 钱邦平 刘臻 朱泽章 孙光权 《中国脊柱脊髓杂志》 CAS CSCD 2008年第7期512-516,共5页
目的:比较特发性脊柱侧凸(idiopathicscoliosis,IS)与先天性脊柱侧凸(congenitalscoliosis,CS)患者肺功能参数的差异性。方法:术前检测214例脊柱侧凸患者的肺活量(vitalcapacity,VC)、用力肺活量(forcedvi-talcapacity,FVC)、第1秒用力... 目的:比较特发性脊柱侧凸(idiopathicscoliosis,IS)与先天性脊柱侧凸(congenitalscoliosis,CS)患者肺功能参数的差异性。方法:术前检测214例脊柱侧凸患者的肺活量(vitalcapacity,VC)、用力肺活量(forcedvi-talcapacity,FVC)、第1秒用力呼气容积(forcedexpiratoryvolumeinonesecond,FEV1)、最大呼气中期流量(maximalmid-expiratoryflow,MMEF)、最大自主通气量(maximalvoluntaryventilation,MVV),计算实测值占预计值百分比(实/预%),其中IS141例(IS组),CS73例(CS组),将肺功能指标与Cobb角进行相关分析。依据主弯顶椎所在位置分为胸段及非胸段侧凸两组,胸段侧凸依据Cobb角大小分为:Cobb角<60°(A组)、60°≤Cobb角<90°(B组)、Cobb角≥90°(C组)3组。分析胸段及非胸段IS、CS患者术前肺功能参数的差异,同时比较年龄≤10岁的IS、CS患者各参数的差异。结果:脊柱侧凸患者VC、FVC、FEV1、MMEF及MVV的实/预%与Cobb角呈显著性负相关(r=-0.40~-0.55)。在胸段侧凸患者中,CS组的FEV1实/预%为64.2%,明显低于IS组患者的80.0%(P<0.05);不同Cobb角CS组患者的VC、FVC、FEV1、MVV实/预%值都较相应Cobb角的IS组患者低(P<0.05)。非胸段侧凸患者中,CS组的VC、FVC、MVV的实/预%较IS组患者低(P<0.05)。年龄≤10岁的CS与IS患者肺功能指标比较也具有显著性差异(P<0.05)。结论:IS和CS患者均存在肺功能损害,但损害模式不同,IS以限制性通气功能障碍为特征,CS表现为混合性通气功能障碍;年龄和Cobb角相匹配时,无论在胸段还是非胸段,CS患者的肺功能损害均较IS患者严重;且两者肺功能损害的差异性在青春期前就存在。 展开更多
关键词 特发性脊柱侧凸 先天性脊柱侧凸 肺功能
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影响脊柱侧凸患者肺功能的脊柱胸廓畸形指标 被引量:11
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作者 郝冉 吴志宏 +5 位作者 韩江娜 孟淑珍 朱元珏 于斌 王以朋 邱贵兴 《中国医学科学院学报》 CAS CSCD 北大核心 2011年第2期194-199,共6页
目的研究脊柱侧凸患者的肺功能及影响肺功能的脊柱胸廓畸形指标。方法采用配对研究的方法,将78例先天性和特发性脊柱侧凸患者与正常受试者以性别和年龄1:1配对。测定两组受试者的肺功能和侧凸患者的脊柱胸廓畸形影像学指标。结果脊柱... 目的研究脊柱侧凸患者的肺功能及影响肺功能的脊柱胸廓畸形指标。方法采用配对研究的方法,将78例先天性和特发性脊柱侧凸患者与正常受试者以性别和年龄1:1配对。测定两组受试者的肺功能和侧凸患者的脊柱胸廓畸形影像学指标。结果脊柱侧凸患者第1秒用力呼气容积和用力肺活量成比例下降,肺总量和功能残气量降低,呈现以肺容积下降为特征的限制性通气功能障碍。弥散量相应降低,单位肺泡弥散量正常或略偏高。气道阻力和气道传导未受累。先天性脊柱侧凸患者除了上述改变外,还出现了气道阻力和残气量的异常。多元线性回归分析显示,受累胸椎数、胸腰椎高度、侧凸度数是肺容积降低的主要影响因素,解释肺容积下降的40%-51%。结论脊柱侧凸患者的肺功能为限制性通气功能障碍伴弥散量降低。累及胸椎数越多、胸腰椎高度越低、侧凸度数越大,肺容积损害越明显。 展开更多
关键词 特发性脊柱侧凸 先天性脊柱侧凸 肺功能 脊柱胸廓畸形
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先天性眼球震颤治疗方法研究进展 被引量:7
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作者 李亮亮 胡敏 江春光 《国际眼科杂志》 CAS 2010年第10期1940-1943,共4页
先天特发眼球震颤是以眼部表现为主的疾病,虽然不属于常见或多发病,但在临床上并非罕见,多见于婴幼儿,发病时间一般都在半岁以内。该病的特点为:发病早或发病时间不能确定,眼球不自主的持续跳动或摆动,极少患者有晃视感,大多数患者都有... 先天特发眼球震颤是以眼部表现为主的疾病,虽然不属于常见或多发病,但在临床上并非罕见,多见于婴幼儿,发病时间一般都在半岁以内。该病的特点为:发病早或发病时间不能确定,眼球不自主的持续跳动或摆动,极少患者有晃视感,大多数患者都有不同程度的视力损害,有的视力减低比较严重,而且不能矫正,较多患者有侧视现象和代偿头位表现,有的头部摇晃,还有的表现为频繁眨眼等代偿现象。该病的主要治疗手段是手术治疗,但影响手术效果的因素很多:发病年龄,眼震强度,代偿头位,休止眼位,视力,手术方式和手术量等。随着近年的发展,对该病有了更深入的认识,我们就一些问题做一简要回顾。 展开更多
关键词 先天性眼球震颤 发病机制 治疗方法
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先天性特发性眼球震颤手术治疗后视功能的恢复 被引量:2
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作者 戴淑真 张黎 +2 位作者 王海山 张荻 王丽娅 《中华实验眼科杂志》 CAS CSCD 北大核心 2011年第11期1032-1035,共4页
背景先天性特发性眼球震颤的手术方式已日渐成熟,但其术后视功能的恢复仍然值得关注。目的探讨先天性特发性眼球震颤的手术治疗方法及其对视功能的影响。方法按照患者的头位扭转角大小和斜视度数的不同将60例先天性特发性眼球震颤患者... 背景先天性特发性眼球震颤的手术方式已日渐成熟,但其术后视功能的恢复仍然值得关注。目的探讨先天性特发性眼球震颤的手术治疗方法及其对视功能的影响。方法按照患者的头位扭转角大小和斜视度数的不同将60例先天性特发性眼球震颤患者分为4组,Ⅰ组:头位扭转角〈15°,水平斜视度≤15°,行本体感受器切除术;Ⅱ组:头位扭转角〈15°,水平斜视度〉15°,行本体感受器切除术联合斜视矫正术;Ⅲ组:头位扭转角≥15°,水平斜视度≤15°,行中间带移位术(部分同时施行本体感受器切除术);Ⅳ组:患者头位扭转角≥15°,水平斜视度〉15°,行中间带移位联合斜视矫正术(部分同时施行本体感受器切除术),采用自身对照法对患者手术前后单眼及双眼远近最佳矫正视力、头位扭转角、斜视度、眼球运动及立体视觉的变化进行比较。结果与术前相比,术后各组患者第一眼位单眼及双眼远视力均明显提高,差异均有统计学意义(单眼:t=6.00、8.94、11.76、16.41,P=0.00;双眼:t=4.81,P=0.0l;t=6.27、4.25、4.18,P:0.00)。术后Ⅰ组和Ⅱ组患者单眼及双眼近视力与术前比较差异无统计学意义(单眼:t=1.63,P=0.18;t=1.17,P=0.26;双眼:t=2.45,P=0.07;t=2.09,P=0.06),而Ⅲ组和Ⅳ组患者术后单眼及双眼近视力均明显提高(单眼:t=2.91,P=0.01;t=5.32,P=0.00;双眼:t=3.36、4.30,P=0.00)。Ⅲ组和Ⅳ组中,术前有代偿头位的41例中,术后39例代偿头位消失,2例明显改善,头位扭转角手术前后比较差异有统计学意义(t=29.90、16.91,P=0.00)。术前26例合并斜视的患者中术后24例患者眼位正位,2例患者斜视欠矫,Ⅱ组、Ⅳ组斜视度明显降低,手术前后比较差异均有统计学意义(t=29.15、36.79,P=0.00)。所有患者术后眼球运动无受限。术前12岁以下的患儿共23例,立体视觉平均为256.52″±66.23″,术后1年其立体视觉平均为120.87″±45.31″,手术前后比较差异有统计学意义(t=12.06,P=0.00)。结论中间带移位术、本体感受器切除术及斜视矫正术可以改善先天性特发性眼球震颤患者的视功能、矫正头位及斜视。 展开更多
关键词 眼球震颤/先天性 特发性 斜视 中间带移位 本体感受器切除
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