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61.
Andrea C. Solomon PhD Julie C. Stout PhD Marjorie Weaver MS Sarah Queller PhD Allison Tomusk PhD Kathryn Burr Whitlock MS Siu L. Hui PhD Jeanine Marshall MS Jacqueline Gray Jackson BS Eric R. Siemers MD Xabier Beristain MD Joanne Wojcieszek MD Tatiana Foroud PhD 《Movement disorders》2008,23(13):1830-1836
Longitudinal studies of neurocognitive function in prediagnosis Huntington disease (pre‐HD) have been few, and duration of follow‐up has been brief. In this study, 155 individuals at‐risk for HD completed a battery of cognitive and motor tasks at two study visits ~10 years apart. Participants were classified as: (1) at‐risk, without the CAG expansion (healthy controls, NC; n = 112), or (2) CAG expanded (CAG+; n = 43). To examine the rate of decline at different stages of the pre‐HD period, participants in the CAG+ group were further characterized as converters (i.e., individuals who developed manifest HD over the course of the study; n = 21) or nonconverters (n = 22), and their performances were compared. The CAG+ group exhibited faster rates of neurocognitive decline over the course of the study, relative to the NC group. In addition, more rapid decline was associated with closer proximity to estimated age of disease onset in the CAG+ group. Faster rates of motor and psychomotor decline were observed in the CAG+ converter group, relative to the nonconverters. These findings suggest that neurocognitive decline in pre‐HD, particularly in motor and psychomotor domains, begins insidiously and accelerates as individuals approach disease onset. © 2008 Movement Disorder Society 相似文献
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Isabel Zegri-Reiriz Arístides de Alarcón Patricia Muñoz Manuel Martínez Sellés Victor González-Ramallo Jose M. Miro Carles Falces Claudia Gonzalez Rico Xabier Kortajarena Urkola José Antonio Lepe Regino Rodriguez Alvarez Jose Maria Reguera Iglesias Enrique Navas Fernando Dominguez Pablo Garcia-Pavia 《Journal of the American College of Cardiology》2018,71(24):2731-2740
Background
There is little information concerning infective endocarditis (IE) in patients with bicuspid aortic valve (BAV) or mitral valve prolapse (MVP). Currently, IE antibiotic prophylaxis (IEAP) is not recommended for these conditions.Objectives
This study sought to describe the clinical and microbiological features of IE in patients with BAV and MVP and compare them with those of IE patients with and without IEAP indication, to determine the potential benefit of IEAP in these conditions.Methods
This analysis involved 3,208 consecutive IE patients prospectively included in the GAMES (Grupo de Apoyo al Manejo de la Endocarditis infecciosa en España) registry at 31 Spanish hospitals. Patients were classified as high-risk IE with IEAP indication (high-risk group; n = 1,226), low- and moderate-risk IE without IEAP indication (low/moderate-risk group; n = 1,839), and IE with BAV (n = 54) or MVP (n = 89).Results
BAV and MVP patients had a higher incidence of viridans group streptococci IE than did high-risk group and low/moderate-risk group patients (35.2% and 39.3% vs. 12.1% and 15.0%, respectively; all p < 0.01). A similar pattern was seen for IE from suspected odontologic origin (14.8% and 18.0% vs. 5.8% and 6.0%; all p < 0.01). BAV and MVP patients had more intracardiac complications than did low/moderate-risk group (50% and 47.2% vs. 30.6%, both p < 0.01) patients and were similar to high-risk group patients.Conclusions
IE in patients with BAV and MVP have higher rates of viridans group streptococci IE and IE from suspected odontologic origin than in other IE patients, with a clinical profile similar to that of high-risk IE patients. Our findings suggest that BAV and MVP should be classified as high-risk IE conditions and the case for IEAP should be reconsidered. 相似文献65.
Xabier de Aretxabala Jorge Leon Juan Hepp Fernando Maluenda Ivan Roa 《Surgical endoscopy》2010,24(9):2192-2196
Background
The aim of this study was to evaluate the role that laparoscopy plays in the management of gallbladder cancer. 相似文献66.
ObjectivesAssess p63 and p73 expression in acoustic neuroma and its correlation with clinical and radiological findings.Materials and methodsmedical records of 34 patients who were operated on for acoustic neuroma during a 3-year period (2001-2003) were evaluated retrospectively. Immunohistochemical analysis of the schwannoma was performed with p63 and p73 antibodies and clinical patient characteristics were correlated with the immunoreactivity results.Results41% of the acoustic neuroma specimens showed p63 and p73 staining. Correlation between both proteins was 100%. Age of the patients tended to be older when staining was positive, but no statistical significance was achieved. Likewise, tumour size was bigger for positive tumours but, again, this difference was not statistically significant. There was no correlation between gender and immunostaining.Discussion and ConclusionsExpression of p63 and p73 was demonstrated in almost half of the patients studied. Although both proteins were more prevalent in older patients and bigger tumours, this difference was not statistically significant, probably due to the reduced sample size. No differences were found in laterality, gender or audiogram. However, the expression of these two proteins in almost half of the tumours shows that they can play a role in the development and progression of acoustic neuromas, although further studies are needed. 相似文献
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Agirre X Román-Gómez J Vázquez I Jiménez-Velasco A Garate L Montiel-Duarte C Artieda P Cordeu L Lahortiga I Calasanz MJ Heiniger A Torres A Minna JD Prósper F 《International journal of cancer. Journal international du cancer》2006,118(8):1945-1953
The PARK2 gene, previously identified as a mutated target in patients with autosomal recessive juvenile parkinsonism (ARJP), has recently been found to be a candidate tumor suppressor gene in ovarian, breast, lung and hepatocellular carcinoma that maps to the third common fragile site (CFS) FRA6E. PARK2 is linked to a novel described PACRG gene by a bidirectional promoter containing a defined CpG island in its common promoter region. We have studied the role of promoter hypermethylation in the regulation of PARK2 and PACRG expression in different tumor cell lines and primary patient samples. Abnormal methylation of the common promoter of PARK2 and PACRG was observed in 26% of patients with acute lymphoblastic leukemia and 20% of patients with chronic myelogenous leukemia (CML) in lymphoid blast crisis, but not in ovarian, breast, lung, neuroblastoma, astrocytoma or colon cancer cells. Abnormal methylation resulted in downregulation of PARK2 and PACRG gene expression, while demethylation of ALL cells resulted in demethylation of the promoter and upregulation of PARK2 and PACRG expression. By FISH, we demonstrated that a lack of PARK2 and PACRG expression was due to biallelic hypermethylation and not to deletion of either PARK2 or PACRG in ALL. In conclusion, our results demonstrate for the first time that the candidate tumor suppressor genes PARK2 and PACRG are epigenetically regulated in human leukemia, suggesting that abnormal methylation and regulation of PARK2 and PACRG may play a role in the pathogenesis and development of this hematological neoplasm. 相似文献