Freezing of gait in postmortem-confirmed atypical parkinsonism.

The frequency and pathophysiology of freezing of gait (FoG) in atypical parkinsonism is unknown. We analysed the frequency of FoG in postmortem-confirmed atypical parkinsonian disorders (APD) comprising corticobasal degeneration (CBD), dementia with Lewy bodies (DLB), multiple system atrophy (MSA), and progressive supranuclear palsy (PSP). Sixty-six patients with pathologically confirmed APD (CBD, n = 13; DLB, n = 14; MSA, n = 15; PSP, n = 24) formed the basis for a multicenter clinicopathological study. Clinical features at first and last clinical visit were abstracted from patient records on standardized forms following strict instructions. At the first visit (median 36 months after symptom onset), 24% of APD had FoG (CBD, 8%; DLB, 21%; PSP, 25%; MSA, 40%). Logistic regression analysis showed a significant association of FoG and urinary incontinence (P = 0.04) at first visit. At last visit, 47% of APD had FoG (CBD, 25%; PSP, 53%; DLB, 54%; MSA, 54%). Clinicopathological correlation based on routine postmortem examination failed to identify a consistent neuropathological substrate of FoG. This study demonstrates that (1) FoG is common in APD, and (2) urinary incontinence is significantly associated with FoG in these disorders. Whether FoG and urinary incontinence share similar neuropathological substrates remains to be determined by future studies.     

高脂血症患者血小板体积及有关参数的研究

本文报道242例高脂血症患者血小板(PLT)、平均血小板数(MPLT)及平均血小板体积(MPV)等参数的测定结果,其中高胆固醇并高甘油三酯患者,PLT、MPLT及巨大血小板比例(Macro-PLT)高于正常,MPV正常;而单纯高胆固醇或高甘油三酯患者,上述指标与正常人无显著性差异。提示高胆固醇并高甘油三酯患者,存在血小板生成动力学异常,其血小板的破坏增加,生成率加速、但处于一种高水平的动态平衡之中。这可能是高脂血症出现高凝状态的原因之一。同时表明此类患者使用抗血小板疗法具有一定的合理性和必要性。     

A mixing model for polychlorinated dibenzo-p-dioxins and dibenzofurans in surface sediments from Newark Bay,New Jersey using polytopic vector analysis

The identity and relative contributions of various sources of polychlorinated dibenzo-p-dioxins (PCDDs) and dibenzofurans (PCDFs) to recently deposited sediments collected in Newark Bay and its major tributaries were determined using polytopic vector analysis (PVA), a multivariate statistical technique relatively new in the chemometric literature. The concentrations of 2,3,7,8-substituted PCDD/Fs were assayed in eighty-one surface and near-surface sediment samples collected from the Passaic River, Hackensack River, Arthur Kill, Elizabeth River, Kill Van Kull, Port Elizabeth, and Port Newark navigation channels and Robins Reef, which is located in New York Harbor. PVA modeling revealed five predominant 2,3,7,8-substituted PCDD/F fingerprint patterns in geographically plausible distributions throughout the estuary. This was consistent with the current understanding of hydrodynamic and sedimentation conditions reported in the literature for Newark Bay. Three patterns contained 2,3,7,8-tetrachlorodibenzo-p-dioxin (2,3,7,8-TCDD), which is alleged to originate from a single industrial source on the lower Passaic River. One of the fingerprints containing 2,3,7,8-TCDD was present in moderate proportions (10–20%) in surface sediments near the site, but was generally observed in low abundance (<5%) elsewhere in the estuary. A fingerprint pattern characteristic of PCDD/F profiles in effluents from municipal sewage and waste water treatment plants was widely distributed in the estuary, but reached its highest relative proportions in the Elizabeth River. A third fingerprint pattern was highest in the Arthur Kill and lower Passaic River and closely matched the residue patterns found in several types of combustion sources. A fourth finger-print pattern in Hackensack River and lower Passaic River sediment matched the PCDD/F profile reported in PCB Aroclor^® formulations. A fifth fingerprint pattern matched the profile in recycled pulp and paper mill effluents and was highest in Kill van Kull and upper Passaic River sediment. The majority of PCDD/Fs in sediment from Reaches B, C, and D of Port Newark and Port Elizabeth were attributable to sediments transported via the Arthur Kill and the Kill Van Kull. These results are consistent with those previously reported using principal components analysis, which indicated that 2,3,7,8-substituted PCDD/F patterns in the sediments of Newark Bay are consistent with discharges from multiple sources.     

Dopamine D4 receptor polymorphism and idiopathic Parkinson's disease

Patients with idiopathic Parkinson's disease (IPD) are described as having markedly decreased novelty seeking characteristics. Since recent publications suggest an association between the dopamine D4 receptor polymorphism and novelty seeking, we investigated this polymorphism in a group of 122 patients with IPD and 127 healthy control subjects. We found similar allele and genotype frequencies in both groups and no association with the age of onset of symptoms. Therefore, the dopamine D4 receptor polymorphism does not confer genetic susceptibility to IPD and cannot explain the decreased novelty seeking in IPD patients.     

Identification of a new locus for autosomal dominant non-syndromic hearing impairment (DFNA7) in a large Norwegian family

Hereditary hearing impairment affects about 1 in 1000 newborns. In most cases hearing loss is non-syndromic with no other clinical features, while in other families deafness is associated with specific clinical abnormalities. Analysis of large families with non-syndromic and syndromic deafness have been used to identify genes or gene locations that cause hearing impairment. The present report describes a large Norwegian family with autosomal dominant non-syndromic, progressive high tone hearing loss with linkage to 1q21-q23. A maximum LOD score of 7.65 (theta = 0.00) was obtained with the microsatellite marker D1S196. Analysis of recombinant individuals maps the deafness gene (DFNA7) to a 22 cM region between D1S104 and D1S466. The region contains several attractive candidate genes. This report supports the idea of extensive genetic heterogeneity in hereditary hearing impairment and represents the first localization of a deafness gene in a Norwegian family.      

Multiple cerebral metastases: detectability with Gd-DTPA-enhanced MR imaging

Sixteen patients with suspected cerebral metastases were studied with magnetic resonance (MR) imaging before and after the intravenous administration of 0.1 mmol/kg of gadolinium diethylenetriaminepenta-acetic acid. The images were interpreted blindly by two neuroradiologists; all clinical, radiologic (computed tomographic and MR imaging), and pathologic data were reviewed to arrive at a final "best diagnosis," which was then compared with the prior blinded interpretations. Of seven patients found to have multiple metastases, six (86%) had at least one tumor nodule depicted by postinfusion MR imaging that was missed by one or both observers on review of preinfusion images alone. Lesions missed on preinfusion studies were usually small nodules hidden by or not detected next to regions of high-signal edema thought to be related to the adjacent tumor nodule. The authors believe that contrast enhancement improves detection of metastatic foci with MR imaging and that the findings indicate broader implications for the detection of multiple lesions from other causes.     

间歇性气囊挤压大鼠腿部对挤压部位和远端骨骼肌一氧化氮合酶mRNA表达的影响

目的:为了进一步了解间歇性气囊挤压法(Intermittent pneumatic compression, IPC)挤压大鼠腿部与一氧化氮(NO)的关系.方法:检测了大鼠骨骼肌中3种一氧化氮合酶(NOS)同工酶:神经型NOS(nNOS);诱导型NOS(iNOS)和内皮细胞型NOS(eNOS)mRNA在IPC作用后的表达变化.25只SD大鼠被随机分为3个模拟实验组和4个IPC实验组.每只鼠取右侧胫前肌(AT)和提睾肌(CM)作为正常对照.IPC组挤压0.5,1,和5h,及挤压5h加等待4h,模拟实验组除不挤压外,其他操作均与实验组相同,然后分离左侧AT和CM作为处理后样品.所有样品应用RT-PCR进行NOS mRNA测定.以样品中看家基因2,3-二羟基丙醛-3-磷酸脱氢酶(GAPHD)cDNA为内参,与NOS cDNA 共同扩增.PCR产物电泳条带密度用NIH图像分析软件定量,并以与正常对照的对比值作为变化比率.结果:在IPC作用0.5、1和5h后,eNOS mRNA显著上升,在AT中分别达到正常对照的1.2,1.8和2.6倍;在CM中分别达到1.2,1.8和2.7倍,而其他NOS,除5hIPC组的nNOS外,总体表现下调.在IPC作用1h加等待4h组中,eNOS mRNA回复至正常对照水平.结论:该结果证实了IPC产生的机械压力至少部分增加了血管壁的剪切压,使内皮细胞增加了NO产物的释放量,导致了挤压部位及远端肌肉的血管扩张和改善了微循环.