蒙特利尔认知评估量表在中国帕金森氏病患者中筛查痴呆的应用

背景：痴呆是帕金森氏病（PD）相关的最痛苦和最繁重的健康问题之一。蒙特利尔认知评估量表（MOCA）被广泛用于帕金森氏症患者的痴呆筛查，但是不知道怎样的诊断划界分适用于中国的帕金森病患者。目的：确定中国版蒙特利尔认知评估量表（MoCA—C）在中国帕金森氏症患者中的诊断划界分和了解经MoCA—C筛查痴呆阳性的帕金森氏症患者的特征方法：采用运动障碍学会工作组标准（金标准诊断）确定616例PD患者和85名社区对照中是否存在痴呆。我们对这些人进行了MoCA-C测试，并运用受试者工作特征（ROC）曲线来确定能够最有效地识别帕金森氏症患者和社区对照中痴呆的MoCA-C划界分。比较经MoCA—C筛查为痴呆阳性与阴性的PD患者的人口学和临床特征。结果：MoCA-C23分是诊断帕金森氏患者及对照组痴呆的最佳划界分。使用该划界分，PD患者的MoCA—C敏感性和特异性分别为0．70和0．77，阳性和阴性预测值分别为0．59和0．85，整体一致性（kappa【95％可信区间】）为0．45（0．39·0．52）。社区对照相应的kappa值（一致性）仅为0．25（0．05-0．45）。与筛查为痴呆阴性的PD患者相比，筛查为痴呆阳性的PD患者所有认知功能都有显著受损，包括视觉空间和执行功能，命名，注意力，语言，抽象，延迟回忆和定向（均P〈O．001）。在帕金森氏症患者中，筛查为痴呆阳性与年老，文化程度低，女性以及严重运动障碍独立相关。结论：通常建议的痴呆划界分26对于中国帕金森病患者来说过高：23分划界分更加合适。中国的帕金森氏症患者发生痴呆的可能危险因素包括年龄，文化程度较低，以及PD严重的运动障碍症状。     

Recent Advances in Intravesical Treatment of Overactive Bladder

The traditional medication for overactive bladder (OAB) is antimuscarinic agent, which targets muscarinic receptors. Recent investigations have revealed that muscarinic receptors are present in the urothelium and suburothelial sensory fibers, as well as in the detrusor. Urothelial dysfunction and abnormality of sensory receptor expression or transmitter release in suburothelial nerves could contribute to OAB refractory to antimuscarinics. Intravesical treatment to inhibit abnormal receptor expression or transmitter release in the sensory nerve terminals in the suburothelial space might provide beneficial therapeutic effects in the treatment of OAB. Intravesical resiniferatoxin (RTX) instillation and intravesical botulinum toxin A (BoNT‐A) injection are two promising treatment alternatives for refractory OAB. RTX at a high dose may cause undesired adverse events, such as hematuria, bladder pain or autonomic dysreflexia. RTX at a low concentration can decrease sensory urgency without influencing detrusor contractility; multiple instillations of low‐dose RTX may be required to achieve adequate desensitization of OAB. BoNT‐A, however, has a beneficial effect on detrusor contractility and causes large post‐void residual after injection in some patients. Therefore, careful dosage and injection site adjustment is mandatory to achieve satisfactory results using intravesical therapy.     

Prader–Willi syndrome in Taiwan

BACKGROUND: Prader-Willi syndrome (PWS) is a congenital disorder caused by absent expression of paternal genes in 15q11-13 affecting multiple systems. The information concerning the clinical features of this genetic disorder is incomplete in Taiwan. METHODS: A retrospective analysis was carried out of 70 PWS patients (39 male, 31 females; age range, 1 month-22 years) seen in four major medical centers in Taiwan from January 1980 through June 2005. All cases were confirmed by methylation-specific polymerase chain reaction. The molecular characteristics, birth history, clinical presentation and laboratory studies were analyzed. RESULTS: Complete genetic analysis was performed in 52 of the 70 patients with PWS. The abnormalities found included deletions in 45 (87%), maternal uniparental disomy (UPD) in five (10%), and a probable imprinting center deletion or an imprinting defect in two (4%). The average weight of the patients at birth was 2588 +/- 540 g. Bone age delay of >2 years and growth hormone (GH) deficiency were noted in 11/40 (28%) and 12/20 (60%), respectively. In the 18 in whom both bone age and GH were assessed, abnormalities of both were found in two (11%). In 2000, Taiwan instituted the Rare Diseases and Orphan Drugs Act and mandated a three-phase screening protocol for PWS. Of the 41 patients diagnosed with PWS before 2000, only four (10%) were diagnosed before the age of 3 months; in the 29 patients diagnosed after 2000, in 15 (52%) the syndrome was confirmed before 3 months of age (P < 0.001). CONCLUSIONS: The present finding is in contrast to that of most previous reports that indicated a higher incidence of UPD in PWS. It is unclear whether this discrepancy in the incidence of UPD arises from under-diagnosis or because of ethnic differences, a question worthy of further study. The three-phase screening protocol has generated notable improvement in the early diagnosis of PWS in Taiwan.     

Cloning and sequencing of the Dermatophagoides pteronyssinus group III allergen, Der p III

House dust mites are widely recognized as major factors involved in the triggering of allergic diseases such as asthma. It is now apparent that the group III allergens of the Dermatophagoides mite species may play a significant role in a number of house dust mite allergic cases. Natural Der p III was isolated by gel filtration of salt precipitated Dermatophagoides pteronyssinus extract and as reported previously ran as a doublet of Mr 28 and 30 K on sodium dodecyl sulphate-polyacrylamide gel electrophoresis (SDS-PAGE). Natural Der fIII was isolated by affinity purification with the 5A12 monoclonal antibody. Amino acid sequence data was generated for both these proteins which was used to construct DNA probes to screen a Dermatophagoides pteronyssinus cDNA library by hybridization and resulted in the isolation of a recombinant Der p III cDNA clone, P3WSI. The 1059 bp cDNA fragment included a 786 bp open reading frame which encodes a pre-pro region of 29 amino acids and a mature protein of 232 amino acids with a calculated Mr 24985. A search of the BLAST protein database has confirmed that the Der p III P3WS1 clone is approximately 50% homologous with other trypsin proteins. We have confirmed with both our natural protein sequence and the P3WS1 amino acid sequence data that the group III allergens are trypsin-like proteins.