Molecular and biochemical study of glutaric aciduria type 1 in 49 Russian families: nine novel mutations in the GCDH gene

Metabolic Brain Disease - Glutaric aciduria type 1 (GA1, deficiency of glutaryl CoA dehydrogenase, glutaric acidemia type 1) (ICD-10 code: E72.3; MIM 231670) is an autosomal recessive disease...     

食管测压及24小时pH监测结果分析——附60例报告

目的：通过食管测压及ｐＨ监测，观察食管在静息和吞咽后各部分的压力变化，探讨食管测压及ｐＨ监测之临床意义。方法：应用多导胃肠功能测定仪及便携式ｐＨ监测记录仪，对６０例患者进行了食管压力测定及４５例食管动态２４小时ｐＨ监测。结果：２５例患者上、下食管括约肌位置、松驰率、食管蠕动收缩的波幅、时限等，数据与国内报道正常值接近，下食管括约肌静息压（ＬＥＳＰ）及上食管括约肌静息压（ＵＥＳＰ）接近或略低于国内报道正常值。２３例２４ｈｐＨ监测提示有酸反流之患者中，１６例ＬＥＳＰ明显低于正常。结论：有助于贲门失驰缓之早期诊断；ＬＥＳＰ与反流有明显关系。     

Balloon Angioplasty and Stent Implantation Performed Through Systemic-to-Pulmonary Artery Shunts in Infants and Neonates

Branch pulmonary artery stenosis (BPAS) in the setting of systemic-pulmonary artery shunts (SPS) may result in significant sequelae. Limited information exists regarding the safety and efficacy of pulmonary artery balloon angioplasty and stent implantation via SPS in neonates and infants. This study aimed to examine the feasibility, safety, and efficacy of balloon angioplasty/stent implantation for BPAS performed via SPS in neonates and infants. A single-center retrospective analysis of all patients weighing 10 kg or less who underwent angioplasty for BPAS via SPS was performed. Systemic oxygen saturations and vessel diameter before, during, and after the procedure were compared. Between July 1996 and February 2008, 15 patients underwent 20 catheterizations for the treatment of 27 BPAS via SPS. The patients had a mean weight of 5.6 kg (range, 2.6–10 kg) and a mean age of 7.6 months (range, 7 days to 33 months). The SPS diameter ranged between 2 and 5 mm (median, 3.5 mm). Angioplasty was performed for all 27 lesions, and an additional stent was placed in 5 of these. The average lesion diameter increased from 2.3 ± 1.5 to 4.7 ± 1.7 mm (p < 0.05), and 25 (93 %) of the 27 lesions met the predetermined criteria for success. Systemic oxygen saturation increased from 73 ± 9.5 % to 82 ± 6.8 % immediately after intervention and was 83 ± 7.9 % at discharge (p < 0.05). There were no instances of shunt thrombosis. Two patients experienced transient hypotension during the procedure. No procedural deaths occurred. The study findings suggest that balloon angioplasty or stent implantation performed via SPS appears to be safe and effective treatment for BPAS in neonates and infants.     

APACHEⅣ评分系统在脑卒中预后及危险因素分析中的临床应用

目的探讨APACHEⅣ评分系统在脑卒中预后及危险因素分析中的临床应用。方法选取2012年3月—2013年9月在我院治疗的脑卒中患者54例,入院24 h后对患者进行APACHEⅣ评分。记录患者各项评分得分,并分析死亡与存活患者各项得分情况;分析患者APACHEⅣ得分与预测死亡危险系数与实际病死率之间的关系,并利用ROC曲线下面积衡量APACHEⅣ评分预测脑卒中患者病死率的效果。结果患者的总体评分分值在8~42分之间,患者得分的差异项主要有血肌酐水平、年龄、心率以及血压等,其中存活组的平均得分(13.52±6.68)分,明显高于死亡组的(26.42±6.48),差异具有统计学意义(P<0.05)。当患者APACHEⅣ得分>30分时,其预测死亡的准确率最高,且随着得分和预测死亡危险系数增加,患者实际病死率也在升高,预测病死率与实际病死率呈正相关(r=0.93,P<0.01)。ROC曲线下面积为0.79,说明其预测脑卒中患者病死率效果良好。结论脑卒中的危险因素主要有血肌酐水平、年龄、心率以及血压等,APACHEⅣ评分系统对脑卒中患者预后具有较好的预测作用,值得临床推广应用。     

帕金森病当代药物治疗与神经保护

帕余森病（Pal-kinson disease，PD）以静止性震颤、肌强直、运动迟缓和姿势反射障碍为典型临床特征，中脑黑质致密部多巴胺（DA）神经元选择性死亡和残存神经元内Lewy小体存在为特征性病理标志。PD是目前唯一有高效对症治疗的慢性神经变性疾病，但症状性治疗似并不能改变潜在的神经变性进程，探寻可能减缓、终止甚至逆转疾病进展的神经保护治疗成为研究热点。本文就PD当代药物治疗与神经保护作一综述。     

阿尔泰柴胡的挥发性成分研究

目的研究阿尔泰柴胡挥发油的化学成分.方法水蒸汽蒸馏法提取阿尔泰柴胡中的挥发油,采用气相色谱-质谱(GC-MS)联用技术分析、鉴定挥发油的化学成分.结果共鉴定出45个化合物,占挥发油总成分的70.61%.结论阿尔泰柴胡挥发油的化学成分主要为α-荜澄茄油烯(21.1%)、氧化香树烯(2)为6.61%,α-石竹烯为4.65%,并与正品柴胡有一定的相似性.