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161.
Giuseppina Basta Anca I. Corciu Annamaria Vianello Serena Del Turco Ilenia Foffa Teresa Navarra Dante Chiappino Sergio Berti Annamaria Mazzone 《Atherosclerosis》2010,210(2):614-618
ObjectiveIt has been suggested that atherosclerotic mechanisms are involved in the pathogenesis of aortic valve stenosis (AVS). We hypothesised that low levels of the soluble receptor for advanced glycation end-products (sRAGE) might be associated with AVS due to its clinical and pathological associations with atherosclerosis.MethodsWe enrolled 75 consecutive patients with severe AVS scheduled for surgical aortic valve replacement and 39 controls without AVS matched for age and gender. Besides the traditional risk factors, we evaluated plasma levels of sRAGE, C-reactive protein (CRP) and IL-6. All patients underwent transthoracic echocardiography, carotid arteries ultrasound scan and coronary angiography. The aortic and coronary calcium by multislice computed tomography was assessed in AVS patients.ResultsThe values of sRAGE were significantly lower (p < 0.01) in AVS patients than in controls, while the CRP levels were significantly higher (p < 0.05) in AVS patients than in controls. In AVS patients the sRAGE levels correlated inversely with age, cholesterol levels and coronary calcification. In all study subjects, we found an inverse correlation between circulating sRAGE and the number of echographically assessed sites of calcification (ANOVA, p < 0.0001). In multivariable logistic regression analysis after adjustment for potential confounders, the sRAGE levels were significantly and independently associated with the risk of AVS (OR = 0.997, 95% CI = 0.994–1.000, p = 0.048).ConclusionSince sRAGE could exert antiatherogenic effects by preventing inflammatory responses mediated by cell surface RAGE activation, low levels in AVS patients indicate that ligand–RAGE axis could contribute to pathogenesis of AVS. 相似文献
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Hashimoto's encephalopathy (HE) is a severe but treatable condition that rarely complicates Hashimoto's thyroiditis. Clinically it is characterized by progressive or relapsing symptoms, including tremor, myoclonus, stroke-like episodes, seizures, impairment of consciousness, and dementia. We describe a patient presenting with recurrent generalized convulsive status epilepticus (GCSE), despite antiepileptic medications, who was successfully treated with methylprednisolone. Our observation confirms that the clinical spectrum of HE at presentation is heterogeneous and diagnosis is often difficult. This case highlights the crucial importance of antithyroid antibody measurement in patients presenting with otherwise unexplained episodes of GCSE with or without adjunctive signs of encephalopathy or thyroiditis. 相似文献
164.
Boria I Quarello P Avondo F Garelli E Aspesi A Carando A Campagnoli MF Dianzani I Ramenghi U 《Human mutation》2008,29(11):E263-E270
Mutations in ribosomal proteins RPS19, RPS24 and RPS17 have been reported in Diamond-Blackfan Anemia (DBA), an autosomal dominant disease characterised by pure red cell aplasia. DBA is the prototype of ribosomapathies: a protein synthesis defect in a tissue with a high cellular turnover is considered the cause of the erythroid progenitor failure. We have created the Diamond-Blackfan Anemia mutation database to curate and record DBA gene mutations, together with their functional consequences and clinical phenotypes. This locus-specific resource is open to future submissions and is available online (http://www.dbagenes.unito.it). It is founded on the Leiden Open (source) Variation Database (LOVD) system and includes data from sequence and structure analysis tools, genomic database resources and published reports. It lists all identified variants and background genomic information. Phenotypic data are accessed by selecting a particular mutation. The database includes 219 unique variants of which 86 are disease-causing mutations. The database will be supplemented with other DBA genes as soon as they are reported and their mutations are identified and it should be of assistance to clinicians and investigators involved in DBA research and care. 相似文献
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167.
The loss of muscle strength with aging appears to be greater in the lower than upper limbs, but strength and its neural control have never been compared in the same population of individuals in both upper and lower limbs. The aim of this study was to investigate differences between eight young (20-31 years) and eight older (68-76 years) healthy women in maximal voluntary contraction (MVC), force fluctuations, median frequency (MDF) of the surface electromyogram (sEMG), and muscle fiber conduction velocity (MFCV) during sustained isometric elbow flexion (EF) and knee extension (KE), performed at moderate to high force intensity. Older women showed larger fluctuations of force with endurance and changes in sEMG pointing to less fatigue, especially at high level of force, with no differences between upper and lower extremities. This may have significant implications in the design of rehabilitation programs directed to this population. 相似文献
168.
Mazza Monica Pino Maria Chiara Keller Roberto Vagnetti Roberto Attanasio Margherita Filocamo Angela Le Donne Ilenia Masedu Francesco Valenti Marco 《Journal of autism and developmental disorders》2022,52(3):1283-1298
Journal of Autism and Developmental Disorders - The differential diagnosis between schizophrenia spectrum disorders (SSD) and autism spectrum disorders (ASD) remains an important clinical question,... 相似文献
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170.
Luraschi P Brambilla S Infusino I Franzini C 《Clinica chimica acta; international journal of clinical chemistry》2003,333(1):41-45
BACKGROUND: Analytical evaluations of an available system for capillary zone electrophoresis (CZE) of serum protein have been reported. However, data concerning long-term precision and stability of the system, operated under routine conditions, are lacking. We report data from an internal quality control (QC) scheme, obtained over a 1-year period. METHODS: Measurements were done with a pair of instruments (Beckman Paragon CZE 2000 system), each equipped with seven capillaries. After preliminary (1 month) assessment of possible inter-capillary and inter-instrument variations, the QC material (a home prepared serum pool stored in the frozen state) was assayed daily over a 1-year period. RESULTS: Maximum inter-capillary and inter-instrument differences were 3.1% and 2.4%. No significant trend was observed for daily values (205 measurements over 1 year); in the same period overall imprecision values (CV) were in the interval 1.2% (albumin) to 3.2-6.1% (globulin zones). Mean monthly imprecision (CV) values were in the interval 1.1% (albumin) to 5.2% (globulin zones). There was no significant trend of monthly means with time. The observed imprecision values were within the biological variation-derived goals for imprecision. CONCLUSIONS: It is concluded that the assessed analytical instruments, operated in routine conditions, show long-term stability and imprecision consistent with the clinical use of the results produced. 相似文献