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991.
Two amino-acid substitutions in the myelin protein zero gene of a case of Charcot-Marie-Tooth disease associated with light-near dissociation. 总被引:2,自引:0,他引:2
H M E Bienfait F Baas A A W M Gabre?ls-Festen J H T M Koelman C T Langerhorst M de Visser 《Neuromuscular disorders : NMD》2002,12(3):281-285
Charcot-Marie-Tooth disease caused by mutations of the myelin protein zero gene demonstrates considerable phenotypical variability. We describe a 45-year-old female with a peripheral neuropathy with demyelinating and axonal features, pes cavus and pupillary light-near dissociation. She was heterozygous for two mutations in the myelin protein zero gene (His81Tyr and Val113Phe), both present on the same allele. Our patient shows a less severe phenotype than previously described patients with a His81Arg mutation. Multiple mutations in the myelin protein zero gene, as well as Charcot-Marie-Tooth with pupillary abnormalities have previously been described in rare instances. However, concurrent occurrence of both phenomena is a novel finding. 相似文献
992.
Michael Groeneweg Suzan Tan Annemieke M. Boot Johan C. de Jongste Jan Bouquet Maarten Sinaasappel 《Journal of cystic fibrosis》2002,1(4):583-280
BACKGROUND: Assessment of nutritional status in children with cystic fibrosis (CF) is clinically relevant. Methods to measure nutritional status should be reliable and non-invasive, and reference values should be available. AIM: To compare weight and height measurements and measurements of specific body compartments in children with CF. METHODS: In a cross-sectional survey of 58 children with CF (28 females), we compared height and weight (expressed as: weight-for-height, body mass index (BMI), height-for-age and weight-for-age) with fat mass (skinfold sum (SFS)), muscle mass (upper arm circumference (UAC)) and bioelectrical impedance analysis (BIA). Results were expressed as Z-scores, using Dutch reference values. RESULTS: BMI and weight-for-height were within the normal range (mean Z-score (range): -0.13 (-1.5, 2.7) and -0.02 (-1.7, 2.8)). Weight and height corrected for age were below normal (mean Z-score (range): -0.79 (-2.4, -0.05) and -1.2 (-2.8, 1.4) (P<0.01)). Lean body mass by skinfold sum (LBM(sfs)), UAC and BIA were also significantly below reference values (mean Z-score (range): -0.9 (-2.2, 1.8), -0.95 (-2.4, 1.8) and -1.1 (-3.6, 1.0) (P<0.01)). Lean body mass (LBM) by BIA correlated with LBM(sfs). BIA systematically underestimated LBM in both CF patients and in control subjects. CONCLUSION: Nutritional status of children with CF must be evaluated, using age-corrected weight and height expressed in Z-score. LBM estimated by SFS, UAC and by BIA appear to be useful, although longitudinal studies in CF children should be performed to evaluate their clinical significance in detecting changes in nutritional status. 相似文献
993.
Luis Erik Clavería Jacinto Duarte Maria Dolores Sevillano Angel Pérez-Sempere Carmen Cabezas Fernanda Rodríguez Jesús de Pedro-Cuesta 《Movement disorders》2002,17(2):242-249
We assessed the prevalence of Parkinson's disease in Cantalejo, Spain. In 1994, we screened 1,579 persons (age > or = 40 years) using a high-sensitivity method. Cases fulfilling established clinical criteria were followed for a minimum of 3 years. Prevalences were compared with those from other door-to-door surveys. We detected 27 individuals with parkinsonism, 20 of whom had Parkinson's disease. The prevalence of Parkinson's disease increased with age and, when age-adjusted to European standards, was 9.01 per 1,000 (age 40 years and over; 10.78 in men and 5.23 in women). Of the 11 men, three were in Hoehn & Yahr grades III-IV, but six of the nine women were more severely affected. Overall, we found 18 newly diagnosed cases of parkinsonism, 13 of which were Parkinson's disease, and the majority of which were in men aged 80 years or older with a mean duration of illness of 5 years. Our prevalence figures are the highest reported, apparently because of the inclusion of several very elderly men. Parkinson's disease in Cantalejo is less severe in men than in women, particularly in those newly diagnosed. Despite the low numbers, the high prevalence and sex-related pattern are unexplained but they probably relate to the high sensitivity of the screening method. 相似文献
994.
原癌基因蛋白质C-erbB-2在乳腺良恶性病变中表达的意义 总被引:3,自引:1,他引:2
目的:检测原癌基因蛋白质C-erbB-2在乳腺良恶性病变中的表达及意义.方法:对111例乳腺良恶性病变的石蜡切片标本进行免疫组织化学染色.结果:乳腺良恶性病变中乳腺导管内乳头状瘤病的C-erbB-2阳性率为31.3%,与乳腺纤维腺病和纤维腺瘤比较差异有显著性(P<0.01),乳腺癌C-erbB-2的阳性率为74.3%,与良性病变比较差异有显著性(P<0.01);乳腺癌C-erbB-2表达与肿瘤大小和组织学分级呈正比(P<0.05),与激素受体(ER、PR)水平及5年生存期呈反比(P<0.05),与淋巴结是否转移无关.结论:C-erbB-2表达的乳腺导管内乳头状瘤病容易癌变,C-erbB-2过度表达的乳腺癌组织分化差、生存期短、预后不好.C-erbB-2 可作为判定乳腺导管内乳头状瘤病早期癌变及乳腺癌预后的有效指标. 相似文献
995.
996.
P G Jorens J J Janssens W I van Tichelen W van Paesschen P P de Deyn P J Schepens 《Neurotoxicology》1991,12(1):1-7
Pentachlorophenol (PCP) is a widely applied insecticide and fungicide, particularly in wood preservation. Significant amounts of this compound have been reported in human serum, adipose tissue and urine. PCP is even found in people not occupationally exposed to this toxin or not living in PCP-treated log-houses. Substantial concentrations of this possible neurotoxic agent were detected in the cerebrospinal fluid (CSF) of 16 neurologic patients as measured by a high resolution gas chromatographic method using electron capture detection. This is the first report on PCP levels in (human) CSF. The observed level in CSF ranged from 0.24 up to 2.03 micrograms/L (ppb), with an average value of 0.75 +/- 0.49. The cerebrospinal fluid level did not correlate with the serum PCP concentration nor with the protein level of the cerebrospinal fluid. 相似文献
997.
I Slavutsky M Labal de Vinuesa M Mudry de Pargament I Larripa 《Cancer Genetics and Cytogenetics》1987,28(2):357-361
The cell cycle kinetics in peripheral blood lymphocytes from 30 patients with hematologic diseases, including non-Hodgkin lymphomas [10], acute nonlymphoblastic leukemias [10], and myelodysplastic syndromes [10] were studied. Thirty normal healthy subjects formed the control group. Non-Hodgkin lymphoma patients showed an elongation of the cell cycle time (43% of metaphases in the first cycle), whereas leukemic patients presented a shortening of the cell cycle progression with 46% of cells in the third division. Myelodysplastic syndromes showed most of the metaphases (55%) in the second cycle. 相似文献
998.
Sergio J Canovas Eric Lim Fernando Hornero Jose Montero 《European journal of cardio-thoracic surgery》2003,23(4):639-641
Left ventricular free wall rupture is a dramatic complication after myocardial infarction. We present our experience with the simple, expedient technique of patch glue repair without extracorporeal circulation. Access is obtained via median sternotomy. Evacuation of blood and haematoma is undertaken and a Goretex patch exceeding the size of infarct is fashioned. The patch is applied to the epicardium using enbrucrilate surgical glue instilled with gentle pressure against the beating heart. We performed this technique on 17 patients from 1993 to 2001, with a operative (30-day) mortality of 23.5% with a post-discharge survival of 85% at 2.2 years. 相似文献
999.
Gerardo Tusman Stephan H. Böhm Fernando Suarez-Sipmann Elsio Turchetto 《Journal canadien d'anesthésie》2004,51(7):723-727
PURPOSE: The goal of this study was to analyze the effect of positive end-expiratory pressure (PEEP), with and without a lung recruitment maneuver, on dead space. METHODS: 16 anesthetized patients were sequentially studied in three steps: 1) without PEEP (ZEEP), 2) with 5 cm H(2)O of PEEP and 3) with 5 cm H(2)O of PEEP after an alveolar recruitment strategy (ARS). Ventilation was maintained constant. The single breath test of CO(2) (SBT-CO(2)), arterial oxygenation, end-expiratory lung volume (EELV) and respiratory compliance were recorded every 30 min. RESULTS: Physiological dead space to tidal volume decreased after ARS (0.45 +/- 0.01) compared with ZEEP (0.50 +/- 0.07, P < 0.05) and PEEP (0.51 +/- 0.06, P < 0.05). The elimination of CO(2) per breath increased during PEEP (25 +/- 3.3 mL.min(-1)) and ARS (27 +/- 3.2 mL.min(-1)) compared to ZEEP (23 +/- 2.6 mL.min(-1), P < 0.05), although ARS showed larger values than PEEP (P < 0.05). Pa-etCO(2) difference was lower after recruitment (0.9 +/- 0.5 kPa, P < 0.05) compared to ZEEP (1.1 +/- 0.5 kPa) and PEEP (1.2 +/- 0.5 kPa). Slope II increased after ARS (63 +/- 11%/L, P < 0.05) compared with ZEEP (46 +/- 7.7%/L) and PEEP (56 +/- 10%/L). Slope III decreased significantly after recruitment (0.13 +/- 0.07 1/L) compared with ZEEP (0.21 +/- 0.11 1/L) and PEEP (0.18 +/- 0.10 1/L). The angle between slope II and III decreased only after ARS. After lung recruitment, PaO(2), EELV, and compliance increased significantly compared with ZEEP and PEEP. CONCLUSION: Lung recruitment improved the efficiency of ventilation in anesthetized patients. 相似文献
1000.
Fernando Alfonso 《Journal of the American College of Cardiology》2007,50(7):650-1; author reply 651