A novel DDC gene deletion mutation in two Chinese mainland siblings with aromatic l-amino acid decarboxylase deficiency

Background

Aromatic l-amino acid decarboxylase (AADC) deficiency (OMIM #608643) is a rare and severe disorder of biogenic amine synthesis caused by mutations in the DDC gene. The phenomenology of the movement disorder includes intermittent oculogyric crises and limb dystonia, generalized athetosis, and impaired voluntary movement.

医院离退休干部参与社会治理现状

通过文献研究、问卷调查、专家访谈、现地调研等方法,分析医院离退休干部参与社会治理的现状及影响因素,探讨社区对离退休干部参与社会治理的需求,提出通过党建引领医院离退休干部参与社会治理的“1235”模式,并给出具体的操作路径,以期为推动医院离退休干部积极参与社会治理提供参考。     

重型颅脑损伤的手术治疗

目的探讨重型颅脑损伤梯度减压的手术方法对预防术中脑膨出、降低死亡率及致残率的效果。方法对100例重型颅脑损伤患者采用分次减压手术方式及去骨瓣后，硬膜与颞肌筋膜瓣减张缝闭硬膜切口方法。结果40例脑肿胀患者术中脑嘭出6例占15．0％，死亡19例占47．5％；60例脑内血肿病人未发生脑膨出，死亡12例占20％。结论脑外伤后脑血管调节麻痹及血肿压迫继发脑水肿易造成脑膨出.术中分次减压降低了骨窗部位脑组织的顺应性，从而降低了局部的压力梯度，避免脑血管急性扩张，能有效防止脑膨出，降低死亡率及致残率。     

关节镜辅助下钢板内固定治疗关节内跟骨骨折

[目的]探讨分析关节镜辅助下钢板内固定治疗关节内跟骨骨折的方法和疗效;[方法]对78位患者，86例累及关节面的跟骨骨折在关节镜辅助下行切开复位钢板内固定术，术后平均随访18个月（12～30个月），通过比较术前术后X线片和踝足功能的AOFAS评分对治疗效果作分析评价．[结果]86例关节内跟骨骨折术后X线示复位满意．与术前存在显著性差异（P〈0．01），AOFAS评分优良率91．86％．[结论]对于关节内跟骨骨折，采用关节镜辅助钢板内固定更加接近解剖复位，足部功能恢复满意且并发症少     

带浅静脉干逆行皮瓣早期微血管构筑变化的体视学研究

目的 探讨带浅静脉干的逆行皮瓣早期微血管构筑变化的特点以供临床实践参考。方法 应用生物体视学技术测量带浅静脉干皮瓣微血管体积密度，结合组织学观察，与不带静脉干皮瓣作对照比较。结果 带浅静脉干皮瓣组微血管密度整体水平高于不带静脉干皮瓣组（P〈0．05）。结论 浅静脉干的存在有利于皮瓣的血管化进程，保留浅静脉干对皮瓣成活有利。     

Effects of magnetic resonance imaging diffusion gradient recalled echo on a patient with an intracranial hemorrhage presenting to the emergency department.

Generally, a computed tomography scan is conducted for the diagnosis of stroke in the emergency department, because these scans are easier and faster in the detection of stroke. If there are no signs of hemorrhage on computed tomography scan, an ischemic stroke is diagnosed and treated accordingly. A magnetic resonance imaging scan may be taken in order to verify ischemic stroke. This process may lead to improper treatment and is time consuming. To address this situation, case studies are presented in which magnetic resonance imaging diffusion-weighted imaging and gradient recalled echo were performed to detect hemorrhagic and ischemic stroke and particularly, subarachnoid hemorrhage, which is undetectable with a computed tomography scan.     

Lugol液染色对食管早期癌和癌前病变的诊断价值

目的 探讨Lugol液染色对食管早期癌和癌前病变的诊断价值。方法 对45例食管黏膜可疑病变经内镜以2％Lugol液喷洒染色，观察黏膜染色情况，并取活检送病理组织学检查。结果 45例食管病变染色后，39例呈浅染色或不染色，其中食管癌8例（食管早期癌5例，进展期癌3例），Barrett食管5例，轻至中度不典型增生1l例。本组Lugol液染色对食管早期癌和癌前病变的检出率达46．7％。结论 内镜下应用Lugol液染色结合活检有助于食管早期癌和癌前病变的诊断，且操作简便，具有重要的临床价值。     

Use of paracervical analgesia for outpatient hysteroscopic surgery: A randomized, double-blind, placebo-controlled study

Twenty-five women receiving sedation for outpatient hysteroscopic polypectomy were injected with 0.25% bupivacaine 10 mL (paracervical group) and another 25 received the same volume of saline (control group) at the cervical fornix. Both groups were given target-controlled propofol sedation during the procedure. More propofol (mg/min) was needed for adequate anesthesia in the control group compared to the paracervical group (6.5 versus 4.6). In addition, the postoperative pain scores were lower in the paracervical group than in the control group. Hemodynamic changes and postoperative side effects were similar in the two groups. This prospective, randomized, double-blind, placebo-controlled study confirmed the effective use of paracervical blocks. This approach has the effect of reducing the amount of intraoperative propofol and decreasing postoperative pain in outpatient hysteroscopic surgery.     

除颤仪技术的讨论

本文通过介绍了除颤仪原理、单相波和双相波电流、波形、能量,分析了除颤仪双相波技术的优点。     

孕妇产前心理状态与需求的调查

目的对孕妇产前心理状态及其影响因素进行调查和评定,以探讨心理因素对分娩方式的影响。方法用综合医院焦虑/抑郁情绪测定量表,采用调查问卷法。结果有焦虑/抑郁症状组与无焦虑/抑郁症状组剖宫产率分别为80%和30%,差异有非常显著性(χ2=25.25,P<0.01);两组产后出血和新生儿阿氏评分,差异也有非常显著性,对婴儿的哺乳喂养方式(母乳、混合、人工)两组亦存在显著性差异(χ2=7.36,P<0.05)。结论产前对有焦虑/抑郁障碍的孕妇进行科学、整体的护理,实施有效的心理干预,可以减轻甚至消除焦虑/抑郁情绪,使孕妇处于最佳身心状态,保障母婴平安度过分娩期。