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Motor Development as a Potential Marker to Monitor Infantile Pompe Disease on Enzyme Replacement Therapy

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Open Journal of Clinical Diagnostics 2017年第1期7卷 8-19页

作者： Paula de Almeida Thomazinho Fernanda Bertao Scalco maria lucia Costa de Oliveira Dafne Dain Gandelman Horovitz Juan Clinton Llerena Jr Fisioterapia Motora Instituto Nacional de Saude da Mulherda Crianca e do Adolescente Fernandes Figueira/FIOCRUZRio de JaneiroBrasil Departamento de Bioquimica Universidade Federal do Rio de JaneiroRio de JaneiroBrasil Area de Centro de Genetica Medica Instituto Nacional de Saude da Mulherda Crianca e do Adolescente Fernandes Figueira/FIOCRUZRio de JaneiroBrasil

After Enzyme Replacement Therapy (ERT) using recombinant human acid alpha-glucosidase (rhGAA), survival of Infantile Pompe Disease (IPD) patients through the first 18 months of age has been documented and acquisitions of motor development are an important outcome, but description of its course is scarce. Objective: To describe the motor development in an IPD patient and its correlation with clinical conditions during the first 18 months on ERT with rhGAA. Methods: By longitudinal observational study of an IPD case at early stage. Clinical and biochemical characteristics were obtained from patient records. Echocardiogram assessed cardiac indexes and the urinary biomarker—glucose tetrasaccharide (Glc4)—was obtained by HPLC/UV, following sample derivatization with butyl 4-amino benzoate and analysis on a C18 stationary phase column. Motor skills were evaluated with Alberta Infant of Motor Scale (AIMS) and motor delay was considered as motor percentile (p) below 10. Descriptive statistical analysis was carried out and t-test was used to calculate the differences among means, with significance level defined as p value < 0.05. Results: After ERT beginning amelioration of the cardiomyopathy with reduced left ventricle mass index (LVMI) from the 2nd month onwards was observed, but above the upper normal limit for healthy children and CRIM-positive IPD patients. Although GAA antibodies level remained above the recommended titers and fluctuating elevation of Glc4 quantified, motor development analysis showed an ascendant curve expected for age within achievement of independent ambulation. Motor delay after pneumonia and maintenance of hypotonia were noted. Variation of Glc4 appeared long after a transitory intercurrence. Conclusion: In an IPD case, motor development can have normal evolution despite hypotonia. Motor analysis seems to be sensitive to follow-up clinical intercurrences. To elucidate the interaction among prognostic factors and outcomes, further clinical studies

关键词： Infantile Pompe Disease Motor Development Enzyme Replacement Therapy Glc4 Biomarker

Characterization of the Ear Canal Bacterial Flora Present in Hearing Aids (HA) Wearing Subjects

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Advances in Microbiology 2019年第7期9卷 616-628页

作者： Marta Aleandri Cecilia Ambrosi maria Stefania Lepanto Antonietta lucia Conte Massimiliano Marazzato Catia Longhi Mauro Nicoletti Carlo Zagaglia Paola Goldoni Francesco Bussu Roberta Anzivino Roberto Gallus maria Pina Battista maria Pia Conte Anna Teresa Palamara Department of Public Health and Infectious Diseases “Sapienza” University of Rome Rome Italy Dani Di Giò Foundation-Onlus Rome Italy Department of Medical Oral and Biotechnological Sciences University “G. D’Annunzio” Chieti Italy Institute of Otolaryngology “Cattolica del Sacro Cuore” University Agostino Gemelli Polyclinic Rome Italy Otolaryngology Mater Olbia Hospital Olbia Italy Department of Public Health and Infectious Diseases “Sapienza” University of Rome Laboratory Affiliated to Institute Pasteur Italia Cenci-Bolognetti Foundation Rome Italy San Raffaele Pisana IRCCS Telematic University Rome Italy

The use of hearing aids (HA) is considered a predisposing factor for ear microbial infections. We undertook this study to compare the presence and nature of the microbial flora inhabiting of ears of HA and non-HA (nHA) users. Swab samples of the ears of HA and nHA users were collected from the Institute of Otolaryngology, “Cattolica del Sacro Cuore” University “Agostino Gemelli”, Rome, Italy. Swab samples were taken from the ear canal of 57 HA and 33 nHA users. The components of the microbial flora present on each swab sample were identified and characterized at the level of species. A total of 41 different bacterial species were identified. A statistically significant prevalence of polymicrobial communities was found in ears presenting signs of inflammation (2.5 ± 1.7 vs 2.1 ± 1.3;P = 0.02) and in HA users (2.3 ± 1.2 vs 1.7 ± 1.0;P = 0.002). Few putative pathogens were detected. Candida albicans spp. was not isolated in our study. A small number of swab samples presented no microbial growth. Bacterial species isolated from HA users with and without inflammation were assayed for the ability to form biofilm. Among gram-positive and gram-negative bacteria, S. aureus, CoNS, P. aeruginosa and K. pneumoniae were found to be strong biofilm producers. S. aureus and P. aeruginosa, isolated only from the ears of HA and nHA users presenting signs of inflammation, were further analyzed for their antibiotic-resistance profile and characterized by the Multilocus Sequence Typing (MLST) assay. The highest rates of antibacterial resistance were in S. aureus to penicillin (75.5%) and in P. aeruginosa, to amoxicillin-clavulanic acid, cefotaxime, ertapenem, tigecycline and trime-thoprim-sulfamethoxazole (100%). Moreover, three S. aureus strains (37.5%) were methicillin-resistant (MRSA). Of the eight S. aureus isolates, we identified six sequence types (ST) indicating that 75% are likely independent clones. For what it concerned P. aeruginosa, six different STs were assigned. Interesti

关键词： Ear Bacterial Flora Hearing Aids Acute Otitis Externa

Incidental vertebral compression fractures in imaging studies:Lessons not learned by radiologists

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World Journal of Radiology 2010年第10期2卷 399-404页

作者： Tommaso Bartalena maria Francesca Rinaldi Cecilia Modolon lucia Braccaioli Nicola Sverzellati Giuseppe Rossi Eugenio Rimondi Maurizio Busacca Ugo Albisinni Donald Resnick Department of Radiologiy Poliambulatorio Privato Zappi Bartalena Department of Radiology Policlinico S.Orsola-Malpighi Department of Radiology Ospedale Ceccarini Department of Clinical Sciences Radiology SectionUniversityof Parma Department of Angiographic Interventional Radiology Istituto Ortopedico Rizzoli Department of Radiology Istituto Ortopedico Rizzoli Department of Musculoskeletal Radiology VA Medical Center

AIM:To assess radiologists reporting rates of incidental vertebral compression fractures in imaging studies. METHODS:We performed a review of the current literature on the prevalence and reporting rates of incidental vertebral compression fractures in radiologic examinations. RESULTS:The bibliographic search revealed 12 studies:7 studies using conventional radiology and 5 using multidetector computed tomography(MDCT).The lossof height cut-off to define a vertebral fracture varied from 15%to 25%.Fracture prevalence was high (mean 21.1%;range 9.5%-35%)in both radiographic and MDCT studies(mean 21.6%and 20.2%,respectively).Reporting rates were low with a mean value of 27.4%(range 0%-66.3%)and were significantly lower in MDCT than in radiographic studies(mean 8.1%vs 41.1%).Notably,recent studies showed lower reporting rates than older studies. CONCLUSION:Many scientific studies have confirmed a high prevalence of vertebral compression fractures as incidental findings on imaging ***,the underreporting of these fractures,as determined in our study,may negatively affect patient care.

关键词： Vertebral compression fractures Spine Osteoporosis Multidetector computed tomography X-rays

Structure of Personality at Intrapsychic and Interpersonal Levels and Depression of Caregivers of Patients Affected by Alzheimer’s Disease: Which Psychotherapeutic Approach?

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Advances in Alzheimer's Disease 2018年第4期7卷 103-118页

作者： Giulietti maria Velia Anna Vespa Stefano Berti Guido Gori Marica Ottaviani Cristina Meloni Paolo Fabbietti Giuseppe Pelliccioni lucia Paciaroni Roberta Spatuzzi Department of Research INRCA-IRCCS National Institute of Science and Health for Aging Ancona Italy Department of Research Scientific and Technological Area INRCA-IRCCS National Institute of Science and Health for Aging Anco-na Italy Health Promotion Department Ancona Alzheimer Daily Center Florence Italy Biostatistical Center INRCA-IRCCS National Institute of Health and Science on Aging Ancona Italy U.O.C. Hospice/Palliative Care Departments Potenza Italy

Background: Many studies have underlined as caregiving for people with Alzheimer’s disease (AD) is highly stressful and has significant negative consequences. Objectives: The study of the structure of personality, can help to understand the association between depression, intrapsychic and interpersonal processes of caregivers of Alzheimer’s disease patients and what kind of intervention can be planned to favor the stress burden management. Methods: Case group: Caregivers (CG) (n = 75);control group, Subjects not Caregivers (nCG) (n. 104). Tests: SASB questionnaire (Structural Analysis of Interpersonal Behavior) describing intrapsychic and interpersonal processes of the structure of personality validated on the basis of DSMIV;CDQ questionnaires—depression. Results: Intrapsychic level: From the results it emerged that CGs had lower autonomy in their choices, and lower acceptance of their own feelings, and exercised greater self-control exhausting themselves toward predetermined goals, and more depression compared to the control group. They may be not able to achieve psychic equilibrium in the presence of stress: they may likely become disoriented and engage in behaviors that may be self-defeating. SASB-Cl = Autonomy (p 0.001);SASB-Cl2-Autonomy and Love (p 0.001), SASB-CL3-Love (p 0.001);SASB-Cl4 Love and control (p 0.001), SASB-CL5-Control (p = 0.015), SASB-Cl6-Control and hate (p 0.001), SASB-Cl7-Hate (p Conclusions: Intrapsychic characteristics such as tendency to depression, inability to being in contact with their own feelings, excessive self-control may be linked to difficulties in facing burden of care and indicate serious difficulties to adaptation to burden condition. The knowledge of these modalities could allow to plan a psychotherapeutic and multidisciplinary intervention aimed at facing and overcoming the psychological distress of the caregiver.

关键词： Caregiver Alzheimer Depression Intrapsychic Behaviours Interpersonal Behaviours Personality

Behavioral Risk Factors for Chronic Non-Communicable Diseases in Adults and Elderly People in the City of Ribeirão Preto—SP

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Journal of Biosciences and Medicines 2022年第12期10卷 42-54页

作者： Jennifer Vieira Paschoalin Marques Carla Regina de Souza Teixeira maria lucia Zanetti Vívian Saraiva Veras Paula Parisi Hodniki Luis Fernando Costa Pereira Fundamental Nursing Department Escola de Enfermagem de Ribeir&atilde o Preto Universidade de S&atilde o Paulo Ribeir&atilde o Preto Brazil

Aims: to analyze the presence and simultaneity of behavioral risk factors for chronic non-communicable disease (NCD) in adults and the elderly. Methods: quantitative, cross-sectional and observational study. Healthy and unhealthy eating are classified according to the frequency of food consumption. Smoking is expressed by the percentage of smokers. Harmful alcohol consumption by the percentage of individuals who consumed alcoholic beverages at least once in the last 30 days. Classification of the level of physical inactivity required to practice at least 150 minutes of physical activity. Results: the sample constituted 719 people, 535 adults and 184 elderly. The behavioral risk factor reported by most adults 499 (93.3%) and elderly 156 (84.8%) was unhealthy eating. Frequency 72% higher of smoking, four times higher of harmful alcohol consumption and 10% higher of unhealthy food among adults when compared to the elderly. The simultaneity between risk factors was 39% greater in adults than in the elderly. Discussion: risk factors evaluated in this study are key aspects of the development of NCDs. Adults have 2.43 times the chance of presenting two risk factors and 7.73 times the chance of presenting three in relation to the elderly. Conclusion: To achieve more effective and differentiated results, knowing and directing measures to control behavioral risk factors, whether isolated or concurrent, requires specific knowledge.

关键词： Risk Factors Chronic Disease Adult Elderly People Health Unic System

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意大利与突尼斯传统药用植物比较

亚太传统医药 2017年第14期13卷 1-2页

作者： maria lucia Leporatti Kamel Ghedira 罗马智慧大学植物生物学系

意大利和突尼斯地处地中海两边,隔海相望,自古以来便交往频繁。几个世纪以来,两个国家相互统治,彼此之间都留下了对方的痕迹。对两国目前使用的药用植物进行比较,重点考察共有的药用植物,以期发掘其在临床应用方面的异同。两国共有的药... 详细信息

意大利和突尼斯地处地中海两边,隔海相望,自古以来便交往频繁。几个世纪以来,两个国家相互统治,彼此之间都留下了对方的痕迹。对两国目前使用的药用植物进行比较,重点考察共有的药用植物,以期发掘其在临床应用方面的异同。两国共有的药用植物有60科153种,临床应用基本一致,仅有个别差异。两国药物植物对比研究表明,民族植物学不仅是一种重要的共有文化遗传,还是一个巨大的知识宝库,值得深入挖掘。

关键词：意大利突尼斯药用植物民族植物学

Target Therapy in Platinum-Refractory/Resistant Ovarian Cancer:From Preclinical Findings to Current Clinical Practice

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Journal of Cancer Therapy 2013年第5期4卷 1005-1017页

作者： Nicoletta Staropoli Cirino Botta Domenico Ciliberto lucia Fiorillo Antonina maria De Angelis Caterina Viscomi Simona Gualtieri Angela Salvino Pierfrancesco Tassone Pierosandro Tagliaferri Medical Oncology Unit Department of Experimental and Clinical MedicineMagna Graecia University and Tommaso Campanella Cancer CenterCampus Salvatore VenutaCatanzaroItaly

Epithelial ovarian cancer (EOC) is the sixth most common malignancy in women. Ovarian tumors consist of several clinical and pathological entities that share an anatomic site. The gold standard treatment, both in front-line and in adjuvant setting, is represented by carboplatin/paclitaxel combination. Conversely, the second-line treatment is not well defined. The response to platinum is the major prognostic factor for survival. In this review we discuss the current views on platinum-refractory/resistant patient treatment only, which includes patients progressing or relapsing within 6 months from the last platinum-based course. Concerning this subgroup, the activity of several conventional drugs was confirmed in different trials without a significant impact in terms of overall survival. In the last years particular emphasis was given to targeted anti-angiogenetic therapy which produced a survival improvement with an acceptable toxicity profile. New “ad hoc” approaches, with a major attention to outcome-predictive factors, are eagerly awaited.

关键词： Ovarian Cancer Systemic Chemotherapy Platinum Sensitivity Status

The human olfactory system in two proteinopathies: Alzheimer’s and Parkinson’s diseases

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Translational Neurodegeneration 2020年第2期9卷 270-289页

作者： Isabel Ubeda-Bañon Daniel Saiz-Sanchez Alicia Flores-Cuadrado Ernesto Rioja-Corroto Melania Gonzalez-Rodriguez Sandra Villar-Conde Veronica Astillero-Lopez Juan Pablo Cabello-de la Rosa maria Jose Gallardo-Alcañiz Julia Vaamonde-Gamo Fernanda Relea-Calatayud lucia Gonzalez-Lopez Alicia Mohedano-Moriano Alberto Rabano Alino Martinez-Marcos Neuroplasticity and Neurodegeneration Laboratory Ciudad Real Medical SchoolCRIBUniversity of Castilla-La Mancha13005Ciudad RealSpain Neurology Service Ciudad Real General University Hospital13005Ciudad RealSpain Pathology Service Ciudad Real General University Hospital13005Ciudad RealSpain Faculty of Health Sciences University of Castilla-La ManchaTalavera de la ReinaSpain Neuropathology Department and Tissue Bank CIEN FoundationCarlos III Health InstituteMadridSpain

Alzheimer’s and Parkinson’s diseases are the most prevalent neurodegenerative *** etiologies are idiopathic,and treatments are symptomatic and orientated towards cognitive or motor ***,both are proteinopathies with pathological aggregates(plaques of amyloid-β peptide and neurofibrillary tangles of tau protein in Alzheimer’s disease,and Lewy bodies mostly composed of α-synuclein in Parkinson’s disease).These deposits appear in the nervous system in a predictable and accumulative sequence with six neuropathological *** disorders present a long prodromal period,characterized by preclinical signs including ***,the olfactory system,particularly the anterior olfactory nucleus,is initially and preferentially affected by the *** atrophy revealed by magnetic resonance imaging must be complemented by histological analyses to ascertain whether neuronal and/or glial loss or neuropil remodeling are responsible for volumetric *** has been proposed that these proteinopathies could act in a prion-like manner in which a misfolded protein would be able to force native proteins into pathogenic folding(seeding),which then propagates through neurons and glia(spreading).Existing data have been examined to establish why some neuronal populations are vulnerable while others are resistant to pathology and to what extent glia prevent and/or facilitate proteinopathy *** approaches reveal a number of hubs in the olfactory system(anterior olfactory nucleus,olfactory entorhinal cortex and cortical amygdala)that are key interconnectors with the main hubs(the entorhinal–hippocampal–cortical and amygdala–dorsal motor vagal nucleus)of network dysfunction in Alzheimer’s and Parkinson’s diseases.

关键词： α-Synuclein Amyloid-β Anterior olfactory nucleus Hyposmia Tau protein

Characteristics of Mesenchymal Stem Cells under Hypoxia

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CellBio 2013年第1期2卷 11-19页

作者： Bruna Amorin Ana Paula Alegretti Vanessa de Souza Valim Annelise Martins Pezzi da Silva maria Aparecida Lima da Silva Felipe Sehn lucia Silla Cell Technology Center Experimental Research Center Hospital de Clínicas de Porto Alegre-Porto AlegreRio Grande do Sul Brazil

Mesenchymal stem cells (MSC) are considered non-hematopoietic multipotent stem cells with self-renewal properties and the ability to differentiate into a variety of mesenchymal tissues. Optimal conditions for the culture of these cells have been the subject of investigation for several years. In particular, ideal oxygen tension levels have not been established in the literature. In physiological environments, oxygen tension may vary from 12% in peripheral blood to 1% in the deep zone of cartilage regions. In any case, oxygen tension is considerably lower in vivo when compared with the normal atmosphere of standard cell culture conditions (21%). The objective of this study was to review the literature available on MSC characteristics (cell cycle, survival, proliferation, differentiation, morphology, immunophenotype, cytogenetics) when cultured under hypoxic conditions. Our focus on optimal culture conditions is justified by the key role currently played by these cells in regenerative medicine.

关键词： Mesenchymal Stem Cells Culture Hypoxia