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31.
Essential tremor (ET) encompasses a group of progressive neurological diseases in which the primary clinical feature is kinetic tremor of the arms. There is accumulating evidence to suggest that the cerebellum is involved in the pathogenesis of ET; the clinical presentation, neurophysiological data, and functional and metabolic abnormalities revealed by neuroimaging studies all point toward the dysregulation of cerebellar circuits. Recent neuropathological findings at postmortem demonstrate that Purkinje neurons, and some brainstem neurons, play an integral role in the pathogenesis of this common neurological disorder. The assessment of Purkinje cell linear density shows that Purkinje density is abnormal in ET brains. Specific efforts need be devoted to understanding the molecular and cellular events occurring in the Purkinje neurons of the cerebellar cortex, which are emerging as being of particular importance in the pathogenesis of ET in a subgroup of patients. © 2013 International Parkinson and Movement Disorder Society. 相似文献
32.
Occupational exposure to nitrous oxide during procedural pain control in children: a comparison of different inhalation techniques and scavenging systems 下载免费PDF全文
33.
Rossi G Sartori G Murer B Capitanio G Cavazza A 《American journal of clinical pathology》2007,127(3):473-4; author reply 474
34.
Sergio Bernardi Serena Bertozzi Ambrogio P. Londero Giuliana Gentile Vito Angione Roberto Petri 《World journal of surgery》2014,38(9):2279-2287
Objective
Breast-conserving surgery has become the preferred treatment for early breast cancer. Yet the question of what constitutes a ‘safe margin’, in terms of impact on patient outcome, remains unanswered. Our aim was to address this knowledge gap by determining the prevalence of positive and narrow margins after breast-conserving surgery, and evaluating how margin status impacted local recurrence and overall survival.Materials and Methods
We collected data about all women who underwent breast-conserving cancer surgery in our department between 2002 and 2011, focusing on patient and tumor characteristics, the distance from the tumor to the surgical margin, therapies administered, and outcome (measured in terms of local recurrence and overall survival). Data were analyzed by R (version 3.0.1), considering p < 0.05 as significant. Multivariate analyses were also performed.Results
Of 1,192 women who received breast-conserving surgery, 264 were considered for widening; 111 of these patients had positive margins and 153 narrow (where narrow was defined as less than 5 mm). Widening was performed for 38 % of these patients (99/264) and mastectomy for 27 % (70/264), while 36 % (95/264) had no further surgery and were simply followed-up. Our multivariate analysis confirmed that local tumor recurrence and overall survival were not significantly influenced by margin status, either at initial surgery, or (for those patients with initially positive margins) at secondary margin-widening surgery. However, the following were found to be significantly correlated with local recurrence: tumor multifocality, high expression of Ki-67/Mib-1, comedo-like necrosis, and non-axillary lymph node positivity (p < 0.05).Conclusions
We found the status of resection margins and the management of infiltrated or narrow margins to have no significant influence on local tumor recurrence rates or on overall patient survival. Instead, biological factors connected with tumor aggressiveness seem to play the most important role in breast cancer prognosis, independent of surgical radicality. 相似文献35.
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37.
Rossana Taravell Marco Caruso Massimo Benedetto Renato Ciofalo Giuliana Pace Salvatore Asciutto Salvatore Novo Giuseppe Cirrincione 《老年心脏病学杂志》2016,13(12):1002-1004
MitraClip therapy for Mitral Regurgitation(MR) in advanced-endstage heart failure(HF),could open a final bridge to improve symptoms and quality of life in \"not transplantable\" patients.
We describe a homeless patient with NYHA class III HF, not elegible to heart transplantation for poor socio-economic status,and severe functional MR,treated with MitraClip. The patient was not suitable for conventional mitral valve repair because of high surgical risk and advanced HF (The STS mortality morbidity score=76%; EUROSCORE II=9,7%). Severe MR was confirmed at TEE preoperative evaluation of patient in which severe LV systolic dysfunction, diastolic dysfunction, severe right ventricle dysfunction, moderate tricuspid regurgitation and post-capillary pulmonary hypertension were detected. After 2 MitraClips implantation, TEE documented effective device position in relation to the main regurgitant jet, a MR grade reduction to 2 , with uneventful recovery. A gradual hemodynamic and general improvement was observed at three-month follow-up echocardiography documenting PAPs reduction and LVEF improvement. Beside, the patient showed HF symptoms reduction in NYHA class I-II. Management of functional MR in end-stage HF is an hard challenge, in addiction to the limited patient group feasibility and long-waiting list of heart transplantation. In the setting of this difficult current real-world experience, percutaneous tecnique was able to improve general conditions, quality of life and survival of our referred patient. 相似文献
38.
Miccio A Cesari R Lotti F Rossi C Sanvito F Ponzoni M Routledge SJ Chow CM Antoniou MN Ferrari G 《Proceedings of the National Academy of Sciences of the United States of America》2008,105(30):10547-10552
Gene therapy for β-thalassemia requires stable transfer of a β-globin gene into hematopoietic stem cells (HSCs) and high and regulated hemoglobin expression in the erythroblastic progeny. We developed an erythroid-specific lentiviral vector driving the expression of the human β-globin gene from a minimal promoter/enhancer element containing two hypersensitive sites from the β-globin locus control region. Transplantation of transduced HSCs into thalassemic mice leads to stable and long-term correction of anemia with all red blood cells expressing the transgene. A frequency of 30–50% of transduced HSCs, harboring an average vector copy number per cell of 1, was sufficient to fully correct the thalassemic phenotype. In the mouse model of Cooley's anemia transplantation of transduced cells rescues lethality, leading to either a normal or a thalassemia intermedia phenotype. We show that genetically corrected erythroblasts undergo in vivo selection with preferential survival of progenitors harboring proviral integrations in genome sites more favorable to high levels of vector-derived expression. These data provide a rationale for a gene therapy approach to β-thalassemia based on partially myeloablative transplantation protocols. 相似文献
39.
Joakim Bergstr?m Maria Cristina Patrosso Giacomo Colussi Maurizio Salvadore Silvana Penco Giuliana Lando Alessandro Marocchi Akihiko Ueda Masaaki Nakamura Yukio Ando 《Amyloid》2007,14(2):141-145
A 68-year-old Italian woman who had a clinical history of thyroidectomy in 2002 presented with slowly progressing renal insufficiency and non-nephrotic proteinurea in 2004. A renal biopsy showed the occurrence of amyloid; the thyroid biopsy previously taken also revealed amyloid infiltration. Other amyloid-containing tissues included bone marrow and heart. The plasma cell level in the bone marrow was found to be less than 5% and both serum and urine samples were positive for a monoclonal kappa light chain band. DNA analysis unexpectedly revealed the presence of a novel transthyretin (TTR) mutation, ATTR Asn124Ser. Histologically, amyloid deposits in the thyroid had a homogeneous appearance with moderate Congophilia. In immunohistochemistry, a kappa light chain antiserum showed positive immunoreactivity with amyloid deposits in the thyroid. Furthermore, a TTR antiserum, anti-TTR50-127, also recognized a number of amyloid deposits stained positive with the kappa light chain antiserum. Overall, the kappa light chain antiserum reacted with most of the amyloid deposits in the thyroid, whereas TTR immunoreactivity was scarcer, with a scattered appearance. In contrast, only the anti-TTR50-127 antiserum labeled amyloid in the kidney, albeit not all deposits. In this study, we report a patient having a novel TTR variant, ATTR Asn124Ser, with co-localization of kappa light chains in the amyloid deposits in the thyroid tissue. 相似文献
40.
PATE, a gene expressed in prostate cancer, normal prostate, and testis, identified by a functional genomic approach 总被引:3,自引:0,他引:3 下载免费PDF全文