913 resultados para Juusola, Hannu


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BACKGROUND: Recent dramatic changes in surgical training resulting from working-hour regulations may lead to lack of competence. Traditionally, carotid surgery has been the domain of specialists. This study was designed to compare the outcome of carotid endarterectomy performed by vascular surgical trainees versus vascular surgeon (VS). METHODS: A retrospective study of 1,379 consecutive patients who underwent carotid endarterectomy as the sole procedure under local or general anesthesia (from 1995-2004) was performed. All patients were admitted to the intensive care unit for 24 hours. Trainees performed 475 (34.5%) and vascular specialists performed 904 (65.5%) operations. RESULTS: Patient characteristics with regard to preoperative neurological status were similar. Trainees operated on 61.4% symptomatic patients and VS on 56.8% (P = 0.09). Shunt use did not differ (16% trainee vs. 17.8% VS). Clamping time and total operating time were longer among trainees (41.9 vs. 33.5 min, P < 0.001; and 121.2 vs. 101.8 min, P < 0.001, respectively). Postoperative stroke and death rates (3.2% vs. 3.1% and 0.4% vs. 0.9%, respectively) did not differ. Peripheral nerve complications were more common among trainees (12.2% vs. 6.5%; P < 0.0001); 99.6% of these nerve injuries had resolved at 3 months' follow-up. CONCLUSIONS: Carotid endarterectomy can be performed safely by a trainee vascular surgeon when assisted and supervised by a specialist vascular surgeon.

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BACKGROUND L-serine plays an essential role in neuronal development and function. Although a non-essential amino acid, L-serine must be synthesised within the brain because of its poor permeability by the blood-brain barrier. Within the brain, its synthesis is confined to astrocytes, and its shuttle to neuronal cells is performed by a dedicated neutral amino acid transporter, ASCT1. METHODS AND RESULTS Using exome analysis we identified the recessive mutations, p.E256K, p.L315fs, and p.R457W, in SLC1A4, the gene encoding ASCT1, in patients with developmental delay, microcephaly and hypomyelination; seizure disorder was variably present. When expressed in a heterologous system, the mutations did not affect the protein level at the plasma membrane but abolished or markedly reduced L-serine transport for p.R457W and p.E256K mutations, respectively. Interestingly, p.E256K mutation displayed a lower L-serine and alanine affinity but the same substrate selectivity as wild-type ASCT1. CONCLUSIONS The clinical phenotype of ASCT1 deficiency is reminiscent of defects in L-serine biosynthesis. The data underscore that ASCT1 is essential in brain serine transport. The SLC1A4 p.E256K mutation has a carrier frequency of 0.7% in the Ashkenazi-Jewish population and should be added to the carrier screening panel in this community.

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Several tests for the comparison of different groups in the randomized complete block design exist. However, there is a lack of robust estimators for the location difference between one group and all the others on the original scale. The relative marginal effects are commonly used in this situation, but they are more difficult to interpret and use by less experienced people because of the different scale. In this paper two nonparametric estimators for the comparison of one group against the others in the randomized complete block design will be presented. Theoretical results such as asymptotic normality, consistency, translation invariance, scale preservation, unbiasedness, and median unbiasedness are derived. The finite sample behavior of these estimators is derived by simulations of different scenarios. In addition, possible confidence intervals with these estimators are discussed and their behavior derived also by simulations.

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