颗粒状角膜营养不良,Granular corneal dystrophy
1)Granular corneal dystrophy颗粒状角膜营养不良
1.MethodsMutations of BIGH3 gene were detected in patients with granular corneal dystrophy(GCD) in Beijing Tongren Eye Center.并取颗粒状角膜营养不良Ⅰ型(GCDⅠ,R555W突变)患者9例18眼作为对照。
2)Gelatinous drop-like corneal dystrophy胶滴状角膜营养不良
1.Gelatinous drop-like corneal dystrophy(GDLD) is an autosomal recessive hereditary disease,which may result in bilateral loss of vision.胶滴状角膜营养不良是一种罕见的常染色体隐性遗传病,可导致视力严重障碍甚至失明。
英文短句/例句
1.Two Novel Mutations Found in Two Chinese Gelatinous Drop-like Corneal Dystrophy Families a Clinical, Histological and Genetic Study;胶滴状角膜营养不良的临床病理特征和基因型分析
2.dystrophia adiposa corneae角膜脂肪性营养不良
3.An Analysis of BIGH3 Mutations with Granular Corneal Dystrophy Groenouw Type Ⅰ and Lattice Corneal Dystrophy Type Ⅰ;颗粒状及Ⅰ型格子状角膜营养不良的BIGH3基因突变分析
4.In fleck corneal dystrophy,the lesion only involved stroma,epithelium and endothelium levels were normal.斑点状角膜营养不良病变仅累及基质层,而角膜上皮层及内皮层正常;
5.Report the Clinical Effect of Curing 2 Patients (3 Eyes) with Macula Corneal Dystrophy Through the "Big Bubble Technque" Combined with "Small Bubble Technique" of Deep Anterior Lamellar Keratoplasty (DALK)“大泡”联合“小泡”的深板层角膜移植术治疗斑块状角膜营养不良2例（3眼）
6.Research progress of molecular genetics of endothelial corneal dystrophy角膜内皮营养不良分子遗传学研究进展
7.fascioscapulohumeral dystrophy肩胛肱骨筋膜营养不良
8.Clinical Analysis of Penetrating Keratoplasty Performed for Stromal Corneal Dystrophy;穿透性角膜移植术治疗基质层角膜营养不良临床分析
9.parathyroid osteodystrophy甲状旁腺性骨营养不良
10.The Clinical and Genetic Features Analysis of BIGH3 Related Corneal Dystrophy;BIGH3基因相关性角膜营养不良的临床及遗传学分析
11.Study of TGFBI Gene Mutations in the Patients with Two Types of Corneal Dystrophy in Northeast in China;中国东北地区两种常见角膜营养不良患者TGFBI基因突变分析
12.A degenerative disorder caused by inadequate or defective nutrition.营养不良因营养不足或营养障碍而引起的不良症状
13.Clinical and immune pathological characteristics of skeletal muscle in UCMD with sarcolemma-specific collagen Ⅵ deficiencyⅥ型胶原肌膜选择性缺失型Ullrich型先天性肌营养不良临床及免疫病理特点
14.Depigmentation of the hair and spooned nails point to malnutrition.头发脱色和匙状甲表明营养不良。
15.The symptoms of lead poisoning are much like those of malnutrition.铅中毒的症状和营养不良极为相似。
16.Alexander disease and Canavan disease亚历山大病及海绵状脑白质营养不良
17.Effects of Intermittent Nasogastric Tube Feeding on Gastrointestinal Side-effects输液器间歇滴入营养液预防鼻饲所致胃肠道不良反应
18.Preconditioning and treatment of malnutrition in diabetic patient of peritoneal dialysis糖尿病腹膜透析患者营养不良的预防和治疗
相关短句/例句
Gelatinous drop-like corneal dystrophy胶滴状角膜营养不良
1.Gelatinous drop-like corneal dystrophy(GDLD) is an autosomal recessive hereditary disease,which may result in bilateral loss of vision.胶滴状角膜营养不良是一种罕见的常染色体隐性遗传病,可导致视力严重障碍甚至失明。
3)macula corneal dystrophy斑块状角膜营养不良
1.Objective: Report the clinical effect of curing 2 patients (3 eyes) withmacula corneal dystrophy through the“big bubble technique”combined with“small bubble technique”of deep anterior lamellar keratoplasty (DALK).方法:选择1月在我院诊断为斑块状角膜营养不良的患者2例,对病例1双眼及病例2右眼行深板层角膜移植术(Deep anterior lamellar keratoplasty, DALK)。
4)corneal dystrophies角膜营养不良
1.The role of confocal microscopy in diagnosis ofcorneal dystrophies;共焦显微镜在角膜营养不良诊断中的应用
5)corneal dystrophy角膜营养不良
1.Progress in the study of molecular genetics of BIGH3 relatedcorneal dystrophy;BIGH3相关性角膜营养不良的分子遗传学研究进展
2.BIGH3 andcorneal dystrophy;BIGH3基因与人角膜营养不良
3.Molecular genetic study oncorneal dystrophy related to BIGH3 in China;国人BIGH3相关性角膜营养不良基因突变类型分析
6)Avellino corneal dystrophyAvellino角膜营养不良
1.Morphologic characteristics ofAvellino corneal dystrophy by confocal microscopy;Avellino角膜营养不良在共焦显微镜下的形态学特征
延伸阅读
X-连锁肾上腺脑白质营养不良X-连锁肾上腺脑白质营养不良是肾上腺脑白质营养不良较多见的一种类型。致病基因在X染色体上，位于Xq28。本病的酶异常是二十四酰辅酶A连接酶的缺陷，生化特点是极长链脂肪酸分解障碍。病理改变神经系统有广泛的中枢性和周围性白质脱髓鞘，肾上腺皮质有萎缩和发育不良。起病年龄可于儿童和成人，临床症状轻重不等，有的可能长期不出现症状。还有介于儿童型和成人型之间的过渡类型。儿童起病的X-连锁ALD最多见。多在4～10岁间的男孩起病。临床特点是神经、心理、行为异常。神经症状和肾上腺症状可同时或相继出现，并可能单独存在。神经系统症状可见多动、攻击行为、智力低下、学习困难、记忆障碍、退缩等，运动障碍有步态不稳、痉挛性瘫痪。还可见癫痫发作，视、听障碍，视神经萎缩等。肾上腺皮质功能不全时表现为轻重不等的皮肤和黏膜色素增加，变黑，以及失盐征。病程为进行性，多在15岁以内死亡。CT和MRI可查出大脑白质病变，脑脊液可有蛋白和细胞数稍增高，局部有γ球蛋白产生。实验室诊断：血浆和皮肤成纤维细胞中极长链脂肪酸增高，特别是C26脂肪酸增高，C26/Ｃ22比值增加。在发生肾上腺皮质功能不全的艾迪生危象时，血中皮质醇减低，不发生危象时，用ACTH刺激试验才能发现肾上腺储备减少。治疗困难。发生肾上腺皮质功能不全时可给以类固醇激素行替代疗法。但对神经系统症状的进展并无影响。
