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find Keyword "隐性" 19 results
  • 蓝锥细胞增强症

    蓝锥细胞增强症(ESCS)是一种少见的常染色体隐性遗传性视网膜疾病,通常与NR2E3突变相关常染色体隐性遗传有关。成年人主要表现为夜盲,眼底检查可以发现黄斑拱环周围视网膜深层团状色素沉着,不同程度的视网膜劈裂;儿童主要表现为夜盲、调节性内斜视以及视网膜损害。特征为视杆细胞功能缺失、S视锥细胞数量增多和功能异常增强、夜盲、视网膜电图明视反应以S视锥细胞介导的大振幅波为主。

    Release date:2016-09-02 05:48 Export PDF Favorites Scan
  • HIDDEN BLOOD LOSS AFTER LUMBAR SPINAL STENOSIS OPERATION

    Objective To determine the total blood loss and hidden blood loss associated with surgery for lumbar spinal stenosis and to identify risk factors for blood loss. Methods From September 2002 to July 2006, the cl inical data from 138 patients with lumbar spinal stenosis undergoing initial operation were analysed prospectively. There were 44 males and 94 females, aging 56-78 years (mean 66.7 years). A simple posterior lumbar spinal decompression was used in 26 cases;posterior spinal canal decompression, interbody distraction Cage, and bone graft between transverse process was used in 54 cases; pedicle screw fixation, posterior decompression and bone graft between transverse process was used in 32 cases; posterior decompression, pedicle screw fixation, interbody Cage, and graft between transverse process was used in 26 cases . Before operation, 23 patients took aspirin, and after operation 15 patients had gastrointestinal bleeding. Intraoperative blood loss was calculated by the aspirator and observed blood loss intraoperation. The whole estimated blood loss was calculated according to the level of hemoglobin, blood volume and blood transfusion at the time of admission and after 3 and 4 days of operation. Results The blood loss intraoperation was (485.51 ± 143.75) mL. The estimated blood loss was (1 218.60 ± 306.86) mL, which was significantly higher than the intraoperational blood loss (P lt; 0.001). There was significant difference between the estimated blood loss and observed blood loss during surgeries (P lt; 0.001). There were significant differences in the estimated blood loss and observed blood loss during surgery between patients treated with aspirin and without aspirin (P lt; 0.001), between patients with gastrointestinal bleeding and whiout gastrointestinal bleeding (P lt; 0.001). Conclusion The total blood loss after surgery for lumbar spinal stenosis is much greater than that of observed intra-operation. The type of surgery, treatment with aspirin and gastrointestinal bleeding or ulceration can all independently increase blood loss.

    Release date:2016-09-01 09:07 Export PDF Favorites Scan
  • RISK FACTORS OF HIDDEN BLOOD LOSS IN INTERNAL FIXATION OF INTERTROCHANTERIC FRACTURE

    ObjectiveTo analyze the associated risk factors of hidden blood loss in the internal fixation of intertrochanteric fracture. MethodsA retrospective analysis was made on the clinical data of 317 cases of intertrochanteric fractures which were treated by internal fixation between January 1993 and December 2008. There were 154 males and 163 females with an average disease duration of 4.58 days (range, 7 hours to 33 days); the age was (69.86±15.42) years; the average height was 1.64 m (range, 1.50-1.84 m);and the average weight was 62.26 kg (range, 39-85 kg). Of them, intramedullary fixation was used in 203 patients and extramedullary fixation in 114 patients. The operation time was (61.99±18.25) minutes. The red blood cell transfusion was given to 84 patients, and the transfusion amount was 200-1 000 mL. The drainage volume was 0-750 mL (mean, 61.85 mL). Hidden blood loss was calculated through change of hematocrit level before and after operation. The multiple linear regression was performed to analyse the risk factors of hidden blood loss. ResultsThe total blood loss was (918.60±204.44) mL, the hidden blood loss was (797.77±192.58) mL, and intraoperative visible blood loss was (257.32±271.24) mL. Single factor analysis showed hidden blood loss was significantly higher in variables as follows:gender, age, injury cause, fracture type, American anesthesiologists grading, anesthesia mode, hypertension, diabetes, disease duration, operation time, intraoperative transfusion of red blood cells, and fixation type. Multiple linear regression showed age, fracture type, anesthesia mode, and fixation type were significant risk factors. ConclusionThe risk factors of hidden blood loss are advanced age (>60 years), unstable fracture, general anesthesia, and imtramedullary fixation. Especially in elder patients with unstable fracture treated by intramedullary fixation under general anesthesia, hidden blood loss is more significant.

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  • Clinical and genetic research on a Chinese family with X-linked complete congenital stationary night blindness

    Objective To make the diagnosis of a pedigree of X-linked congenital stational night blindness(CSNB) and to identify the disease-causing gene. Methods Clinical examination and family analysis were made. Venous blood was drawn from 5 affected and 16 unaffected individuals from the family. Genomic DNA was extracted. The locus of the candidate gene was mapped by linkage study. Mutation was screened by polymerase chain reaction (PCR) of the candidate gene exons and flanked introns. The PCR products are directly sequenced. The healthy people in and out of the family who were selected according to certain standards were as the control. Results A Chinese family with X-linked complete congenital stationary night blindness (CSNB1) was diagnosed. A missense mutation A772C (T258P) in exon 2 of NYX gene was identified in all affected patients and all female carriers were heterozygous. This mutation was neither found in normal family members nor among 110 unrelated normal controls. Conclusion A novel mutation of NYX gene with threonine to proline change is responsible for this Chinese CSNB1 family. (Chin J Ocul Fundus Dis, 2007, 23: 184-188)

    Release date:2016-09-02 05:48 Export PDF Favorites Scan
  • 肺泡微结石症的研究进展

    肺泡微结石症(PAM)是一种罕见疾病,起病隐匿,病程漫长,早期缺乏临床症状,极易误诊。影像学和病理活体组织检查是主要诊断手段。PAM病因不明,有研究表明可能与基因突变有关,且多有家族遗传史。早诊断、早治疗有助于延长PAM患者的生命。为提高对该病的认识,现将近年来有关肺泡微结石症的研究进展作一综述。

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  • CLINICAL OBSERVATION OF HIDDEN TENSION SUTURE WITH ABSORBABLE THREAD

    Objective To observe the operative technique and cl inical effects of hidden tension suture after tibiofibular fracture fixation with absorbable thread. Methods From October 2003 to October 2008, 203 patients (220 sides) with tibiofibular fracture underwent hidden tension suture (test group, 102 cases of 112 sides) and the common interrupted suture (control group, 101 cases of 108 sides), including 179 males and 24 females with an median age of 36 years (3-75 years). Fracture was caused by traffic accident in 170 cases, by heavy bruise in 21 cases, and by fall ing from height in 12 cases. Therewere 186 cases of single-side fracture, and 17 cases of double-side fracture. Of them, 127 sides were closed fracture, and 93 sides were open fracture (including 38 sides of type I, 45 sides of type II, and 10 sides of type IIIA according to Gustilo classification for the open fracture). The locations were upper tibia in 55 sides, middle tibia in 126 sides, and lower tibia in 39 sides. The X-ray films showed that there were transverse fractures in 65 sides, obl ique fractures in 53 sides, spiral fractures in 45 sides, and comminuted fractures in 57 sides. No blood vessel injury, osteofascial compartment syndrome and pressure syndrome were observed. The time from injury to operation was 2 hours to 7 days with an average of 2 days. Of 220 sides, 45 sides were fixed by interlocking nails, others by internal steel plate. Results In control group, heal ing by first intention was achieved in 70 cases (69.3%) and heal ing by secondary intention in 31 cases (30.7%); in test group, heal ing by first intention was achieved in 93 cases (91.2%) and heal ing by secondary intention in 9 cases (8.8%); and showing significant difference (P lt; 0.05). All patients were followed up for 6 months to 2 years (average 9 months). No compl ication occurred in test group, and scar was obvious in the control group. Conclusion The hidden tension suture with absorbable thread can be a good alternative for the incision heal ing after tibiofibular fracture fixation. It deals with the problems of the incision tension and difficult-to-suture, and is good for the incision heal ing after operation.

    Release date:2016-08-31 05:47 Export PDF Favorites Scan
  • 常染色体隐性卵黄样黄斑营养不良一例

    Release date:2020-05-19 02:20 Export PDF Favorites Scan
  • 一家系兄弟同患Usher综合征

    Release date:2016-09-02 05:46 Export PDF Favorites Scan
  • 疗养院实现隐性知识共享因素分析与解决途径

    目的分析疗养院工作人员实现隐性知识共享的影响因素。 方法统计北戴河疗养院图书馆2012年4月-11月和2013年4月-11月维普中文生物医学期刊和自建资源服务系统文献检索次数,绘制折线图对比,按照2010年-2013年图书馆每年登记的总阅览人数绘制分布图对比。 结果维普中文生物医学期刊和自建资源服务系统文献检索次数在2012年4月-11月和2013年4月-11月均呈递增趋势,且两个数据库使用率相差大;2010年-2013年图书馆每年登记的总阅览人数逐年上升。 结论在提高疗养院人员的文献检索能力、增强检索必要技巧的同时,仍要加强信息素养的培养。

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  • ANTERIOR LUMBAR INTERBODY FUSION WITH SELF-LOCKED CAGE FOR TREATMENT OF CENTRAL TYPE LUMBAR INTERVERTEBRAL DISC PROTRUSION AND RECESSIVE LUMBAR SEGMENTAL INSTABILITY

    ObjectiveTo evaluate the effectiveness of anterior lumbar interbody fusion (ALIF) with self-locked Cage in the treatment of central type lumbar intervertebral disc protrusion and recessive lumbar segmental instability. MethodsBetween March 2010 and February 2012, 31 patients with central type lumbar intervertebral disc protrusion and recessive lumbar segmental instability were treated with decompression and ALIF assisted by self-locked Cage through the mini-incision and retroperitoneal approach. There were 20 males and 11 females with the mean age of 46 years (range, 34-58 years). And the disease duration ranged from 5 to 32 months (mean, 16 months). The lesion located at the L3,4 level in 2 cases, L4,5 in 20 cases, and L5, S1 in 9 cases. The operation time, intraoperative blood loss, bedridden time, hospitalization time, and complications were recorded. The effectiveness was evaluated by Oswestry disability index (ODI) and visual analogue scale (VAS). Lumbar X-ray films and three-dimensional CT scan were taken to evaluate the fusion and the variation of the height and Cobb angle of intervertebral space. ResultsThe mean operation time was 102 minutes; the mean intraoperative blood loss was 121 mL; the mean bedridden time was 5 days; and the mean hospitalization time was 11 days. Intraoperative peritoneum tear and ascending lumbar vein tear, postoperative cerebrospinal fluid leakage, pain at donor site, and asymmetric elevated skin temperature of the lower extremity occurred in 2 cases, 1 case, 1 case, 4 cases, and 2 cases respectively, which were relieved after symptomatic treatment. All cases were followed up 12-28 months (mean, 20 months). No infection, recurrence, deep venous thrombosis, or retrograde ejaculation was observed after operation. MRI showed complete decompression at 3 months after operation. At last follow-up, the scores of ODI, VAS of lumbars and lower limbs, the intervertebral height, and Cobb angle were significantly improved when compared with preoperative ones (P<0.05); CT scan showed bone fusion in all cases. ConclusionThe clinical outcome of ALIF with self-locked Cage through mini-incision and retroperitoneal approach is satisfactory in treatment of central type lumbar intervertebral disc protrusion and recessive lumbar segmental instability. It can retain the posterior spinal construction and has the advantages of less trauma and bleeding, immediate stability, high bone fusion rate, and so on.

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