Wilson病基因突变类型与临床表型的关系

目的 探讨Wilson病（WD）基因突变类型与临床表型的关系。方法 应用聚合酶链反应-单链构象多态分析（PCR-SSCP）和DNA测序方法,对84例WD患者进行WD基因全长21个外显子的突变检测。结合统计学方法,着重分析并探讨中国人WD基因突变热点Arg778Leu基因型与临床表型的关系。结果 18例患者检出Arg778Leu纯合突变。29例患者在一条染色体上检出Arg778Leu杂合错义突变。其中,在另一条染色体上,3例检出移码突变;15例突变未明;余11例检出其他错义突变。就理论而言。与错义突变相比。移码突变可导致更严重的功能缺陷及表型。不能与错义突变混合进行统计学分析。另15例患者因有一条染色体突变未明亦被排除在外。因此,相对Arg778Leu纯合错义突变进行统计学分析时,只能选择11例发生复合错义突变的患者做为Arg778Leu杂合突变病例组。经统计学分析。携带Arg778Leu纯合突变的患者和携带Arg778Leu杂合突变的患者,其起病年龄,血清铜蓝蛋白水平及临床类型均差异有显著意义,P值小于0.05或0.001。结论 Arg778Leu突变不是一种温和的突变。它可导致患者症状出现较早并较严重。     

内直肌边缘切开合并肌联合术治疗麻痹性内斜视

目的 观察肌联合术治疗麻痹性内斜视的作用.方法 25例麻痹性内斜视应用内直肌边缘切开术减弱拮抗肌力量,应用外直肌与上、下直肌联合术加强麻痹肌.结果 术前第一斜视角+30.375°(+66.25△),术后1周残余度数+6.25°(+12.15△),残余以内斜＜10△为良好,良好率为88%.外转范围5.57±0.535°.结论 外直肌与上、下直肌联合术可使眼球有一定的外展功能.     

L—NNA对大鼠脑缺血时脑组织含水量和乳酸含量的影响

为研究ＮＯＳ抑制剂对大鼠脑缺血时脑组织含水量和乳酸含量的影响,用干温质量法和酶法检测脑组织中含水量和乳酸含量。结果表明脑缺血１０ｍｉｎ,。脑组织含水量和乳酸含量明显高于假手术组,预先给予Ｌ－ＮＮＡ可明显降低脑血１０ｍｉｎ时组织含水量和乳酸的含量。     

Carrier detection and presymptomatic identification of Wilson disease in Chinese by non-isotopic linkage analysis with four short tandem repeat polymorphisms

Ｗｉｌｓｏｎｄｉｓｅａｓｅ（ＷＤ）ｉｓａｎａｕｔｏｓｏｍａｌｒｅｃｅｓｓｉｖｅｄｉｓｏｒｄｅｒｏｆｃｏｐｐｅｒｍｅｔａｂｏｌｉｓｍｗｉｔｈａｗｏｒｌｄｗｉｄｅｆｒｅｑｕｅｎｃｙｏｆｂｅｔｗｅｅｎ１／５０００ａｎｄ１／３００００ｉｎｌｉｖｅｂｉｒｔｈｓ...     

胃疡安胶囊治疗消化性溃疡疗效观察

目的：观察胃疡安胶囊治疗消化性溃疡近期及远期疗效。方法：用胃疡安胶囊治疗消化性溃疡80例（胃溃疡29例,十二指肠球部溃疡51例）,与用雷尼替丁治疗的40例（胃溃疡12例,十二指肠球部溃疡28例）作对照,治疗30天评定近期疗效,随访1年观察远期疗效。结果：近期临床疗效及盲镜检查结果,治疗组均优于对照组（P＜0.05,P＜0．005）。随访观察近期治愈患者停药1年后溃疡复发情况,治疗组胃溃疡复发率为8．7％,十二搭肠球部溃疡复发率为9．3％;对照组胃溃疡复发率为60％,十二指肠球部溃疡复发率为58．8％,对照组复发率明显高于治疗组,治疗组远期疗效优于对照组（P＜0．01,P＜0．005）。结论：胃疡安胶囊为治疗消化性溃疡的有效药物,可降低消化性溃疡治疗后的复发率。     

Mutation analysis and the correlation between genotype and phenotype of Arg778Leu mutation in chinese patients with Wilson disease

BACKGROUND: The defective gene (ATP7B) that causes Wilson disease (WD) codes for a putative copper-transporting P-type adenosine triphosphatase. After cloning of ATP7B, the spectrum of mutations and their clinical consequences have been investigated in patients with WD in different ethnic populations. However, the spectrum of mutations and the correlation of genotype-phenotype in the Chinese population have not been extensively studied. OBJECTIVE: To investigate the characterization of mutations of ATP7B and the correlation between genotype and phenotype in the Chinese population. METHODS: We studied 60 unrelated healthy Chinese and 65 unrelated Chinese families, including 84 patients with WD and 126 parents. Genomic DNA was prepared from peripheral blood leukocytes using a salt-precipitation method. Polymerase chain reaction single-strand conformation polymorphism and subsequent direct sequencing were used to identify the mutations and polymorphisms of ATP7B. Statistical analysis was performed using t test or chi(2) test. RESULTS: We identified 18 mutations (7 novel) and 11 polymorphisms (3 novel). The novel mutations are -36C-->T, Trp650ter, Gln914ter, 2810delT, Thr935Met, Arg1041Pro, and Glu1173Lys. The novel polymorphisms are 1168A-->G (Ile390Val), 2785A-->G (Ile929Val), and 3316G-->A (Val1106Ile). Two mutations, Arg778Leu and Thr935Met, are relatively frequent, representing 37.7% and 10.0% of patients, respectively. To our knowledge, we are the first to report the correlation between the genotype and phenotype of Arg778Leu. The result shows that Arg778Leu homozygotes are associated with the early onset of WD with hepatic presentation. CONCLUSIONS: The Arg778Leu and Thr935Met mutations are hot spots in the Chinese population. The features of mutations of ATP7B differ between the Chinese and Western ethnic populations. The Arg778Leu mutation has severe effects on the function of ATP7B. These findings are valuable for developing a fast and effective method to diagnose the presence of the WD gene.     

陵水暗罗活性成分研究

从陵水暗罗(polyalthia nemoralis A.etDC)根的乙醇提取物中分离得到五个化合物。经光谱(UV,IR,¹H-NMR,¹³C-NMR,DEPT和MS)解析和化学反应,分别鉴定为暗罗素(zincpolyanemine,PN1),2-巯基吡啶-N-氧化物铜盐(PN₂),β-谷甾醇(PN₃),β-谷甾醇-β-D-吡喃葡萄糖甙(PN₄)和2-巯基吡啶-N-氧化物-2-S-β-D-吡喃葡萄糖甙(PN₅),其中PN₅为新化合物,PN2为新天然产物。PN1和PN2有较强抗疟、防霉杀菌作用。PN5的抗疟、防霉试验尚在进行中。     

单眼水平直肌后徙联合缩短术与内直肌斜向缩短术治疗集合不足型外斜视的疗效对比

目的：比较单眼水平直肌后徙联合缩短手术与内直肌斜向缩短术对集合不足型外斜视的治疗效果。方法：前瞻性研究。对2016年9月到2017年2月在郑州大学第一附属医院就诊的36例集合不足型外斜视患者行手术治疗,随访时间≥6个月。根据手术方式不同分为3组：单眼水平直肌后徙联合缩短手术组（A组,16例）、单眼内直肌斜向缩短术组（B组,9例）和双眼内直肌斜向缩短术组（C组,11例）。A组中外直肌按照看远斜视度数后徙,内直肌按照看近斜视度数缩短。B组和C组中内直肌肌止端上端按照看远斜视度数缩短,肌止端下端按照看近斜视度数缩短。术后正位的评价标准为看远斜视度在±10 △ 以内。采用Fisher精确概率检验、重复测量方差分析进行数据分析。结果：随访期末,A组正位占比为14/16例,显著高于B组（2/9例）和C组（4/11例）,差异具有统计学意义（均P < 0.05）。A组看近和看远斜视度均小于其他2组,差异具有统计学意义（均P < 0.05）。3组间手术后看近和看远斜视度的差异无统计学意义。结论：单眼水平直肌后徙联合缩短手术中外直肌按照看远斜视度数后徙,内直肌按照看近斜视度数缩短设计术式,可以有效治疗集合不足型外斜视,优于内直肌斜向缩短手术。     

马蓝的化学成分研究

Seven compounds have been isolated from the whole plant of Strobilanthes cusia (Nees) O. Ktze. Three of them are triterpenes (Ⅰ～Ⅲ), two are indole alkaloids (Ⅳ, Ⅴ), two are quinazolinone alkaloids (Ⅵ, Ⅶ). On the basis of spectral analysis and physicochemical properties, their structures were established as lupeol (Ⅰ), betulin (Ⅱ), lupenone (Ⅲ), indigo (Ⅳ), indirubin (Ⅴ), 4 (3H)-quinazolinone (Ⅵ), 2, 4 (1H, 3H)-quinazolinedione (Ⅶ). Ⅵ and Ⅶ were found from natural plant for the first time.The results of the pharmacological tests demonstrate that compound Ⅴ has anticancer activity and compound Ⅵ has hypotensive action. Compound Ⅶ can be quantitatively determined by HPLC, which may serve as a quality control standard for materia medica and its preparations. Compounds Ⅵ and Ⅶ have been confirmed by means of synthesis.     

彩色超声多普勒引导器官移植术患者颈内静脉穿刺及对并发症的监控效应

目的:为提高器官移植术患者颈内静脉穿刺置管的成功率及其安全性,减少并发症,应用彩色多普勒超声引导颈内静脉穿刺置管,并与采用传统的体表标志法穿刺者进行对比观察。方法:选择2004-11/2007-04南京医科大学附属无锡第一医院收治,预计穿刺较困难的肝移植及肾移植手术患者70例,根据患者意愿分为彩超定位组和对照组各35例。彩超定位组应用HDI5000型彩色多普勒超声显像仪进行实时立体定位,引导行颈内静脉穿刺置管并定期监控;对照组采用传统的体表标志法定位行颈内静脉穿刺置管。记录穿刺置管时间、成功率和并发症,穿刺置管成功后定期监控置入导管所在血管的血流情况、有无血栓形成或栓塞及飘浮导管的位置是否合适等。结果:70例均进入结果分析。①彩超定位组穿刺置管操作时间少于对照组(P<0.001)。②彩超定位组46次穿刺操作均一次成功,43次经颈内静脉单壁直接穿入,3例次穿过双壁,经稍退针后成功穿入,无一例次发生误穿动脉或其他并发症;对照组45次穿刺中,一次直接成功者20例次,6例次曾误穿入动脉。③21例肝移植患者均成功置入飘浮导管全程行有创心功能监测,术后监测发现4例有早期血栓形成。结论:①将彩色多普勒超声技术用于器官移植术患者颈内静脉穿刺时进行立体定位,引导穿刺置管,可明显提高穿刺置管的成功率和安全性。②通过术后定期监控,可了解导管位置是否保持准确及有无血栓形成等并发症发生。