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We studied the long-term clinical course of five patients with chronic manganese intoxication. The mean scores of the King's College Hospital Rating Scale for Parkinson's disease increased from 15.0 +/- 4.2 in 1987 to 28.3 +/- 6.70 in 1991 and then to 38.1 +/- 12.9 in 1995. The deterioration was most prominent in gait, rigidity, speed of foot tapping, and writing. Tissue concentrations of manganese in blood, urine, scalp hair, and pubic hair returned to normal. Follow-up MRIs did not show paramagnetic high-signal intensity on T1-weighted images. The data indicate that clinical progression in patients with manganese parkinsonism continues even 10 years after cessation of exposure. 相似文献
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CC O'Shea AP Thornell IR Rosewell B Hayes MJ Owen 《Canadian Metallurgical Quarterly》1997,7(5):591-599
A major issue is whether surface expression of the pre-TCR is necessary for signaling the development of immature thymocytes. To address this question, we generated transgenic mice expressing a TCRbeta chain that had a strong endoplasmic reticulum (ER) retrieval signal (TCRbetaER) and that was expressed intracellularly but failed to reach the cell surface. In TCRbetaER transgenic mice, there was a failure of allelic exclusion. Also, the transgene failed to rescue the developmental defects observed in TCRbeta-null mice. In contrast, TCRbeta transgenes with a mutant ER retrieval sequence or lacking this sequence signaled efficient allelic exclusion and suppressed the TCRbeta-/- defect. These data show that exit of the pre-TCR from the ER/cis-Golgi is required for progression through the double-negative thymocyte checkpoint. 相似文献
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In this paper we analyze the algebraic formulations of certain geometry statements appearing in recent literature related to mechanical geometry theorem proving and give several examples to show that one of these formulations can cause serious problems. We clarify a formulation which is essentially due to W. T. Wu and, in our opinion, is the most satisfactory.This author was supported by NSF Grants DCR-8503498 and CCR-8702108. 相似文献
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R Constantinides S Xenophontos P Neophytou S Nomura A Pierides CC Deltas 《Canadian Metallurgical Quarterly》1997,99(5):644-647
The PKD1 gene, which is responsible for the most common form of autosomal dominant polycystic kidney disease, has recently been cloned and sequenced. Many disease-causing mutations have been characterized in this gene, most of them resulting in premature protein termination. However, mutation analysis not routinely implemented for family investigations in a clinical setting, because of the large size and complexity of the gene. Instead, genetic linkage analysis using highly polymorphic CA dinucleotide repeats that map around the gene is still the method of choice. Recently, a few intragenic polymorphisms have been described that are also useful for linkage studies. Here, a new diallelic polymorphism is described for amino acid residue 4058, Ala/Val4058, with allelic frequencies of 0.88 and 0.12, respectively, and a heterozygosity of 0.23, in the Greek and Greek-Cypriot populations. Interestingly, this polymorphism and Ala4091-A/G, which has previously been described in Caucasians, were not detected in DNA from 44 Japanese samples tested. This is particularly important when allelic frequencies in a particular population are used for linkage analysis of families of different ethnic origin. Also, observation of the two polymorphisms together as haplotypes suggests that the Ala/Val4058 polymorphism occurred more recently than the establishment of the Ala4091-A/G polymorphism, and specifically on the G allele. 相似文献
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Fifteen paediatric patients with Salmonella meningitis were retrospectively reviewed. Presenting symptoms and signs included fever, vomiting, seizures, poor activity, diarrhoea and bulging anterior fontanelle in most patients. Seven out of eight patients with prolonged fever for > 10 days had neurologic sequelae; therefore, prolonged fever is a significant prognostic factor of a poor outcome (p < 0.005). All 15 patients had a brain ultrasound or computed tomography in the acute stage and 11 patients had abnormal findings. The 14 surviving patients were treated with a third-generation cephalosporin for at least 3 weeks. Seven patients (47%) made complete recoveries; two of them were treated solely with a third-generation cephalosporin. Only one mortality (6%) occurred and there were no relapses. In conclusion, high frequencies of prolonged fever, neuroimaging abnormalities and neurologic sequelae were seen in patients with Salmonella meningitis treated with third-generation cephalosporins. 相似文献
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HM Chaung CH Hong CP Chiang SK Lin YS Kuo WH Lan CC Hsieh 《Canadian Metallurgical Quarterly》1996,95(7):545-550
This review reports the different genetic factors that have been identified either as risk factor for Alzheimer's disease (AD) or directly causing the disease. First are reviewed epidemiological data and biological mechanisms about the apoplipoprotein E gene allele epsilon 4 that is a major risk factor for Alzheimer's disease. The second part describes the mutations responsible for early-onset autosomal dominant AD found in three different genes. The gene located on chromosome 21 encodes the amyloid precusor protein (APP). The presenilin 1 and presenilin 2 genes, located on chromosome 14 and 1 respectively, encode not yet known membrane proteins. 相似文献