Construction and validation of a Parkinson's disease mutation genotyping array for the Parkin gene.

Parkin mutations account for the majority of familial and sporadic early onset Parkinson's disease (EOPD) cases with a known genetic association. More than 100 mutations have been described in the Parkin gene that includes homozygous, compound heterozygous, and single heterozygous mutations. We have designed a Parkin mutation genotyping array (gene chip) that includes published Parkin sequence variants and allows their simultaneous detection. The chip was validated by screening 85 PD cases and 47 controls previously tested for Parkin mutations. Similar genotyping microarrays have been developed for other genetically heterogeneous diseases including age-related macular degeneration. Here, we show the utility of a genotyping array for Parkinson's disease by analysis of 60 subjects from the Genetic Epidemiology of Parkinson Disease (GEPD) study that includes 15 early-onset PD case probands and 45 relatives.     

99mTc-depreotide生长抑素受体显像的临床应用研究

生长抑素受体显像近年来研究较多，depreotide已成为其研究热点之一。Depreotide在诊断与鉴别诊断临床常见的孤立性肺结节方面有其独特优势；此外，^99mTc—depreotide生长抑素受体显像在乳腺癌、甲状腺癌、淋巴瘤等肿瘤及甲状腺相关性眼病等非肿瘤性疾病也有一定应用前景。     

踝关节色素沉着绒毛结节性滑膜炎误诊1例报告

患者,女性,53岁,发现左外踝无痛性肿物2年余,无外伤史。发病1个月后曾在外院诊断为“血管瘤”,建议观察随诊。近期肿物逐渐增大,查体发现肿物位于外踝尖的前后侧分为两部分,轻度压痛,有揉面感,踝关节活动无受限。超声示外踝附近两个不规则低回声影,边界清,内部回声不均匀,内可见血流信号,为实性肿物。踝关节X线片未见明显骨质破坏,关节面光滑,关节间隙较对侧稍增宽。病理报告见图1。图1滑膜上皮呈乳头状增生,间质大量纤维组织细胞增生,淋巴细胞、多核巨细胞浸润,并伴大量含铁血黄素沉积(HE染色,×20)2005年1月12日行肿瘤切除术,由外踝沿肿…     

Local anesthesia for inguinal hernia repair in adolescents

Background Many centers use local anesthesia for adult inguinal hernia surgery in the setting of day-case surgery. There are no reports on, or guidelines for, use of anesthesia for inguinal hernia surgery in adolescents. We describe our initial experience with the use of local anesthesia and intravenous sedation for inguinal hernia surgery in adolescents in the setting of a day-surgery facility. Methods The charts of 14 consecutive adolescent patients (aged 12–17) who had inguinal hernia surgery from July 2004 to March 2005 were reviewed retrospectively. Intravenous sedation was administered 1–3 min before injection of local anesthetic. Sedation consisted of midazolam 0.085 mg kg⁻¹ and either fentanyl 0.85 μg kg⁻¹ or ketamine 0.085 mg kg⁻¹, according to the preference of the anesthesiologist. Additional sedation with half the initial dose was administered if required. Local anesthesia using a combination of lignocaine and bupivacaine was administered by the surgeon with infiltration in the skin and deep tissues. Results Fourteen adolescents aged 12–17 years (mean 14.8 ± 1.37), weighing 34–100 kg (mean 61.2 ± 16.5), had 15 inguinal hernia repairs with sedation and local anesthesia. All the patients were male. All completed the surgery with sedation and local anesthesia. None required conversion to general anesthesia. There were no immediate or subsequent complications. Mean time from the end of surgery to discharge home was under 2 h (mean 106 ± 36 min). Examination of patient charts did not reveal any complaints regarding the surgery or the postoperative course at the postoperative follow up visit. Conclusions The use of local anesthesia with intravenous sedation for inguinal hernia repair in the adolescent age group seems feasible and requires further prospective study.     

生物活性锶羟基磷灰石骨水泥应用于椎体后凸成形术的生物力学研究

目的探讨单侧和双侧球囊扩张注射生物活性锶羟基磷灰石骨水泥（SrHAC）行椎体后凸成形术对骨折椎体模型的高度和生物力学性能的修复能力。方法从2具新鲜冰冻人脊柱标本中分离14个椎体（T8～L5），随机分为单侧组（单侧球囊扩张注射SrHAC）和双侧组（双侧球囊扩张注射SrHAC），每组7个椎体。测量各椎体的骨密度、原始高度后，对各椎体标本施加轴向压力负载，测出各椎体的原始强度和原始刚度，并建立椎体压缩骨折模型。测量椎体骨折后的刚度。在c型臂x线机下手术，术中控制球囊扩张的体积均为3．00mL，术后测量各椎体的高度、强度和刚度。用单因素方差分析比较两组椎体的骨密度、原始刚度和原始强度。用配对t检验比较两组椎体的高度和生物力学性能在手术前、后的改变，其中椎体中线两侧高度差在手术前、后的改变用单因素方差分析。结果两组椎体的骨密度、原始强度和刚度之间差异无统计学意义（P〈0．05）。骨折后，椎体的前缘、中线和后缘高度均减少，刚度较原始刚度降低。单侧组平均注入3．07mLSrHAC，双侧组平均注入5．82mLSrHAC。术后椎体各部位的高度均有所增加，但未能恢复到原始高度水平。术后两组椎体中线两侧的高度及两组椎体强化后的强度差异均无统计学意义（P〉0．05）。两组椎体强化后的刚度均有一定程度的修复，双侧组较单侧组刚度修复效果好。结论单侧或双侧注射SrHAC行球囊扩张椎体后凸成形术均能修复骨折椎体模型的高度和生物力学性能。     

药物性肾损害53例临床分析

目的总结药物性。肾损害患者53例，旨在提高对该病的认识。方法对本科1995至2005年药物性。肾损害患者的临床资料进行回顾分析。结果53例中40岁以下者17例，40岁以上者36例，其中60岁以上者23例。致病药物中抗菌素32例，中药6例，解热镇痛药、避孕药、造影剂、抗肿瘤药、奥美拉唑、阿昔洛韦、卡托普利共15例。临床表现为急性间质性肾炎综合征21例，急性肾小管坏死11例，急进性。肾炎综合征4例，肾病综合征7例，慢性间质性。肾炎综合征9例，过敏性紫癜性。肾炎1例。死亡3例，转为慢性肾损害10例，其余患者均临床痊愈。结论中老年人为药物性。肾损害的高危人群；抗生素。肾损害特别是头孢类抗生素。肾损害发生率上升到所有药物之首。停用致病药物和支持治疗是公认的治疗方法，而对于少数表现为急进性。肾炎综合征、肾病综合征、过敏性紫癜性。肾炎的患者，甲基泼尼松龙加环磷酰冲击治疗后继以肾上腺皮质激素口服也不失为抢救。肾脏的重要方法。     

神经导航下锁孔开颅显微手术切除脑深部海绵状血管瘤(附15例分析)

目的探讨神经导航下锁孔开颅显微手术切除脑深部海绵状血管瘤的技巧及疗效。方法对15例脑深部海绵状血管病人在神经导航下行锁孔开颅，运用显微神经外科技术切除病灶。结果本组脑深部海绵状血管瘤均取得了显微镜下全切除。术中出血少，均未输血。病人术后恢复良好，无手术死亡。结论采用神经导航技术可精确定位脑深部病变，锁孔手术又是处理颅内病变的微创神经外科技术。正确应用这两项技术，结合熟练的显微神经外科技巧，可明显提高脑深部海绵状血管瘤的临床治疗效果。     

副神经节细胞瘤的影像诊断

目的探讨副神经节细胞瘤的影像特点，提高其诊断正准率。方法对25例副神经节细胞瘤的影像资料进行分析，探讨不同影像检查方法诊断副神经节细胞瘤的价值。结果16例位于腹膜后、4例位于心脏、2例位于膀胱、2例位于胸腔近膈顶处、1例位于肝门区。以囊实性为主，与周围组织分界不清，MR及CT平扫肿瘤信号及密度不均匀，增强扫描实性部分可明显强化。17例肾上腺髓质^131I-间碘苄胍（^131I-MIBG）显像阳性率为88．2％（15例）；7例行生长抑素受体^99Tc^m-奥曲肽（^99Tc^m-octreotide）显像者，6例阳性。结论CT、MRI可显示肿瘤内部结构特征及与周围组织的关系，^131I-MIBG显像有定性价值，^99Tc-octreotide显像可提供补充信息。     

肝脏单形性上皮样血管平滑肌脂肪瘤的影像表现

目的提高对肝脏单形性上皮样血管平滑肌脂肪瘤（HMEA）影像表现的认识和诊断准确率。方法对经手术病理证实的4例HMEA进行回顾性分析，讨论影像表现和病理之间的联系。结果4例HMEA中，2例误诊为肝细胞癌，1例误诊为局灶性结节增生，1例诊断正确。影像表现主要为：（1）平扫呈等低或等稍高密度的HMEA2例，强化模式呈“快进慢出”。病理特点足瘤内有丰富的窦隙状薄壁分隔微血管网，无分化成熟的脂肪细胞，1例伴厚壁的血管。（2）平扫呈低密度或低信号的HMEA2例，强化模式呈“快进快出”，中央可见粗大的动脉。病理特点为瘤中央有畸形粗大厚壁的动脉，无脂肪细胞夹杂其间。结论HMEA影像表现与病理结构直接相关，根据影像表现结合临床资料可对该病作出初步诊断，但确诊仍依赖病理组织学检查。     

氧化锌乳膏的质量控制

目的 氧化锌乳膏剂进行质量控制.方法 取处方量油相与水相分别置玻璃烧杯中,置水浴加热75℃使其熔化后,在相同温度条件下,两液合并搅拌至凝（约50℃）时加入氧化锌即得乳膏剂,采用络合量法乙二胺四醋酸二钠标准滴定液测定氧化锌的含量.结果 氧化锌乳膏制剂稳定,氧化锌在16%～24%浓度范围内线性关系良好（r=0.999 9）.平均回收率为99.55%,RSD为0.25%（n=9）.结论 本制剂处方工艺设计合理,质量控制方法简便易行.