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Davide Perruzza, Nicola Bernabò, Cinzia Rapino, Luca Valbonetti, Ilaria Falanga, Valentina Russo, Annunziata Mauro, Paolo Berardinelli, Liborio Stuppia, Mauro Maccarrone, Barbara Barboni
The relationship between varicocele and fertility has always been a matter of debate because of the absence of predictive clinical indicators or molecular markers able to define the severity of this disease. Even though accumulated evidence demonstrated that the endocannabinoid system (ECS) plays a central role in male reproductive biology, particularly in the testicular compartment, to date no data point to a role for ECS in the etiopathogenesis of varicocele. Therefore, the present research has been designed to investigate the relationship between testicular ECS gene expression and fertility, using a validated animal model of experimental varicocele (VAR), taking advantage of traditional statistical approaches and artificial neural network (ANN)...
2018: BioMed Research International
Wenqiong Xu, Hongyi Zhou, Hongzhuan Xuan, Pradip Saha, Gongxian Wang, Weiqin Chen
Bscl2-/- mice recapitulate many of the major metabolic manifestations in Berardinelli-Seip congenital lipodystrophy type 2 (BSCL2) individuals, including lipodystrophy, hepatosteatosis, muscular hypertrophy, and insulin resistance. Metabolic defects in Bscl2-/- mice with regard to glucose and lipid metabolism in skeletal muscle have never been investigated. Here, we identified Bscl2-/- mice displayed reduced intramyocellular triglyceride (IMTG) content but increased glycogen storage predominantly in oxidative type I soleus muscle (SM)...
December 4, 2018: Molecular and Cellular Endocrinology
Fabiola R Tamburro, Pietro Castellan, Fabio Neri, Francesco Berardinelli, Maida Bada, Petros Sountoulides, Nicola Giuliani, Enrico Finazzi Agrò, Luigi Schips, Luca Cindolo
OBJECTIVE: Onabotulinumtoxin-A has been approved for wet overactive bladder refractory to anticholinergics in randomised controlled trials; however, data from real-life practice are scarce. This study was designed to assess the efficacy of intravesical onabotulinumtoxin-A injections, focusing on health status, urinary symptoms and subjective satisfaction. METHODS: Data from consecutive patients with overactive bladder-refractory to anticholinergics treated with onabotulinumtoxin-A were prospectively collected and analysed...
November 2018: Urologia
Camille Vatier, Marie-Christine Vantyghem, Caroline Storey, Isabelle Jéru, Sophie Christin-Maitre, Bruno Fève, Olivier Lascols, Jacques Beltrand, Jean-Claude Carel, Corinne Vigouroux, Elise Bismuth
BACKGROUND: Lipodystrophic syndromes are rare diseases of genetic or acquired origin characterized by partial or generalized lack of body fat. Early detection and diagnosis are crucial to prevent and manage associated metabolic dysfunctions, i.e. insulin resistance, dyslipidemia, fatty liver, and diabetes, and to provide appropriate genetic counseling. By means of several representative case studies, this article illustrates the diagnostic and management challenges of lipodystrophic syndromes...
November 9, 2018: Current Medical Research and Opinion
Michele Marchioni, Francesco Berardinelli, Cosimo De Nunzio, Philippe Spiess, Francesco Porpiglia, Luigi Schips, Luca Cindolo
Penile cancer is a rare disease. Most of penile cancer are squamous cell carcinoma. Diagnosis is based on self-examination, clinical examination and confirmatory biopsy. Several imaging technique could be used for staging purpose. However, the best modality for staging in intermediate and high risk patients is by surgical evaluation and the use of inguinal lymph node dissection, that has also a therapeutic effect. Unfortunately, inguinal lymph node dissection is underused. Penile cancer treatment may have a major adverse impact on urinary and sexual function and on quality of life...
September 19, 2018: Minerva Urologica e Nefrologica, the Italian Journal of Urology and Nephrology
Jorge Luiz Dantas de Medeiros, Bruno Carneiro Bezerra, Thiago Anderson Brito de Araújo, Aquiles Sales Craveiro Sarmento, Lázaro Batista de Azevedo Medeiros, Lucien Peroni Gualdi, Maria do Socorro Luna Cruz, Thaiza Teixeira Xavier Nobre, Josivan Gomes Lima, Julliane Tamara Araújo de Melo Campos
BACKGROUND: Berardinelli-Seip Congenital Generalized Lipodystrophy (BSCL) is an ultra-rare metabolic disease characterized by hypertriglyceridemia, hyperinsulinemia, hyperglycemia, hypoleptinemia, and diabetes mellitus. Although cardiovascular disturbances have been observed in BSCL patients, there are no studies regarding the Respiratory Muscle Strength (RMS) in this type of lipodystrophy. This study aimed to evaluate RMS in BSCL subjects compared with healthy subjects. METHODS: Eleven individuals with BSCL and 11 healthy subjects matched for age and gender were included in this study...
September 12, 2018: Respiratory Research
Federica Ricci, Chiara Brusa, Francesca Rossi, Enrica Rolle, Valeria Placentino, Angela Berardinelli, Veronica Pagliardini, Francesco Porta, Marco Spada, Tiziana Mongini
BACKGROUND: Pompe disease (PD) is a rare condition caused by mutations in gene encoding for the enzyme alpha-glucosidase, resulting in an abnormal intracellular accumulation of glycogen. The disease clinical spectrum ranges from severe infantile forms to adult-onset forms with minor limitations. Since 2000 enzyme replacement therapy (ERT) is available and disease natural history has changed, with prolonged survival and evidence of myopathic features. METHODS: In this study, we monitored disease progression up to three years in eight young patients with PD...
August 18, 2018: European Journal of Paediatric Neurology: EJPN
Daniela Muoio, Francesco Berardinelli, Stefano Leone, Elisa Coluzzi, Alessandra di Masi, Filippo Doria, Mauro Freccero, Antonella Sgura, Marco Folini, Antonio Antoccia
In the present paper, the biological effects of three different naphthalene diimides (NDIs) G-quadruplex (G4) ligands (H-NDI-Tyr, H-NDI-NMe2, and tetra-NDI-NMe2) were comparatively evaluated to those exerted by RHPS4, a well-characterized telomeric G4-ligand, in an in vitro model of glioblastoma. Data indicated that NDIs were very effective in blocking cell proliferation at nanomolar concentrations, although displaying a lower specificity for telomere targeting compared to RHPS4. In addition, differently from RHPS4, NDIs failed to enhance the effect of ionizing radiation, thus suggesting that additional targets other than telomeres could be involved in the strong NDI-mediated anti-proliferative effects...
August 10, 2018: FEBS Journal
Long Ding, Xiao Yang, He Tian, Jingjing Liang, Fengxia Zhang, Guodong Wang, Yingchun Wang, Mei Ding, Guanghou Shui, Xun Huang
Seipin , the gene that causes Berardinelli-Seip congenital lipodystrophy type 2 (BSCL2), is important for adipocyte differentiation and lipid homeostasis. Previous studies in Drosophila revealed that Seipin promotes ER calcium homeostasis through the Ca2+ -ATPase SERCA, but little is known about the events downstream of perturbed ER calcium homeostasis that lead to decreased lipid storage in Drosophila dSeipin mutants. Here, we show that glycolytic metabolites accumulate and the downstream mitochondrial TCA cycle is impaired in dSeipin mutants...
September 3, 2018: EMBO Journal
Gustavo Noriz Berardinelli, Cristovam Scapulatempo-Neto, Ronílson Durães, Marco Antônio de Oliveira, Denise Guimarães, Rui Manuel Reis
Colorectal cancer (CRC) is a leading cause of cancer death worldwide. Microsatellite instability (MSI) is a genetic pathway leading to CRC, associated with particular clinicopathological features, and recently a major biomarker of immunotherapy response. There is little information the frequency MSI among Brazilian CRC patients, and it is still debatable the ideal methodology for MSI screening in countries with limited resources. We proposed to evaluate MSI by molecular and immunohistochemistry (IHC) methods, to compare both methodologies and also to assess the inclusion of a novel microsatellite marker, HSP110 (T17)...
June 19, 2018: Oncotarget
Carmela Ciccarelli, Agnese Di Rocco, Giovanni Luca Gravina, Annunziata Mauro, Claudio Festuccia, Andrea Del Fattore, Paolo Berardinelli, Francesca De Felice, Daniela Musio, Marina Bouché, Vincenzo Tombolini, Bianca Maria Zani, Francesco Marampon
PURPOSE: Prostate cancer (PCa) cell radioresistance causes the failure of radiation therapy (RT) in localized or locally advanced disease. The aberrant accumulation of c-Myc oncoprotein, known to promote PCa onset and progression, may be due to the control of gene transcription and/or MEK/ERK-regulated protein stabilization. Here, we investigated the role of MEK/ERK signaling in PCa. METHODS: LnCAP, 22Rv1, DU145, and PC3 PCa cell lines were used in in vitro and in vivo experiments...
September 2018: Journal of Cancer Research and Clinical Oncology
Marika Pane, Giorgia Coratti, Claudia Brogna, Elena Stacy Mazzone, Anna Mayhew, Lavinia Fanelli, Sonia Messina, Adele D'Amico, Michela Catteruccia, Marianna Scutifero, Silvia Frosini, Valentina Lanzillotta, Giulia Colia, Filippo Cavallaro, Enrica Rolle, Roberto De Sanctis, Nicola Forcina, Roberta Petillo, Andrea Barp, Alice Gardani, Antonella Pini, Giulia Monaco, Maria Grazia D'Angelo, Riccardo Zanin, Gian Luca Vita, Claudio Bruno, Tiziana Mongini, Federica Ricci, Elena Pegoraro, Luca Bello, Angela Berardinelli, Roberta Battini, Valeria Sansone, Emilio Albamonte, Giovanni Baranello, Enrico Bertini, Luisa Politano, Maria Pia Sormani, Eugenio Mercuri
The aim of the study was to establish 24 month changes in upper limb function using a revised version of the performance of upper limb test (PUL 2.0) in a large cohort of ambulant and non-ambulant boys with Duchenne muscular dystrophy and to identify possible trajectories of progression. Of the 187 patients studied, 87 were ambulant (age range: 7-15.8 years), and 90 non-ambulant (age range: 9.08-24.78). The total scores changed significantly over time (p<0.001). Non-ambulant patients had lower total scores at baseline (mean 19...
2018: PloS One
Josivan Gomes Lima, Lucia Helena C Nobrega, Natalia Nobrega Lima, Marcel Catão Ferreira Dos Santos, Pedro Henrique Dantas Silva, Maria de Fatima P Baracho, Debora Nobrega Lima, Julliane Tamara Araújo de Melo Campos, Leonardo Capistrano Ferreira, Francisco Paulo Freire Neto, Carolina de O Mendes-Aguiar, Selma Maria B Jeronimo
INTRODUCTION: Berardinelli-Seip Congenital Lipodystrophy (BSCL) is a rare autosomal recessive disease that affects the development of adipocytes and leads to an inability to store fat in adipocytes. This study aimed to evaluate the life expectancy and the causes of death of patients with BSCL. METHOD: We analyzed death certificates, and medical records of BSCL patients who died between 1997 and 2017. If the death certificate was incomplete or unavailable, we reviewed the medical records, and if they were not available too, we collected information from the patient's relatives to understand how the death happened...
2018: PloS One
Nathália C Campanella, Croider Franco Lacerda, Gustavo Noriz Berardinelli, Lucas Faria Abrahão-Machado, Adriana Cruvinel-Carloni, Antônio Talvane Torres De Oliveira, Cristovam Scapulatempo-Neto, Eduardo Crema, Sheila Jorge Adad, Maria Aparecida Marchesan Rodrigues, Maria Aparecida Coelho Arruda Henry, Denise Peixoto Guimarães, Rui Manuel Reis
AIM: The molecular pathogenesis of esophageal squamous cell carcinoma (ESCC) has been increasingly studied, but there is no report on the role of MSI in ESCC development associated with chagasic megaesophagus (CM).Results/methodology: In four ESCC/CM (4/19) we found microsatellite instability (MSI) alterations (21.1%), being three MSI-L (15.8%) and one MSI-H (5.3%). Four out of 35 ESCC cases showed MSI-L (11.4%) and only one out of 26 CM cases presented MSI-L (3.9%). The MSI-H was observed in an ESCC/CM patient that presents lack of MSH6 immunostaining corroborating deficiency in MMR pathway...
June 2018: Biomarkers in Medicine
Verônica Kristina Cândido Dantas, Joice da Silva Soares, Lázaro Batista de Azevedo Medeiros, Aquiles Sales Craveiro Sarmento, Thaiza Teixeira Xavier Nobre, Fábia Barbosa de Andrade, Josivan Gomes de Lima, Julliane Tamara Araújo de Melo Campos
Berardinelli-Seip Congenital Lipodystrophy (BSCL) is a rare autosomal recessive disease characterized by the almost complete absence of adipose tissue. Due to a strong founder effect that resulted in a higher prevalence of BSCL in Rio Grande do Norte (RN), a state in northeastern Brazil, it has been essential that health professionals develop knowledge about this disease. Nurses are often the first point of contact with patients during health care assistance. The purpose of this study was to investigate the knowledge of these professionals about BSCL in two main hospitals in RN state...
2018: PloS One
Riccardo Bertolo, Riccardo Autorino, Giuseppe Simone, Ithaar Derweesh, Juan D Garisto, Andrea Minervini, Daniel Eun, Sisto Perdona, James Porter, Koon Ho Rha, Alexander Mottrie, Wesley M White, Luigi Schips, Bo Yang, Kenneth Jacobsohn, Robert G Uzzo, Ben Challacombe, Matteo Ferro, Jay Sulek, Umberto Capitanio, Uzoma A Anele, Gabriele Tuderti, Manuela Costantini, Stephen Ryan, Ahmet Bindayi, Andrea Mari, Marco Carini, Aryeh Keehn, Giuseppe Quarto, Michael Liao, Kidon Chang, Alessandro Larcher, Geert De Naeyer, Ottavio De Cobelli, Francesco Berardinelli, Chao Zhang, Peter Langenstroer, Alexander Kutikov, David Chen, Nicolo De Luyk, Chandru P Sundaram, Francesco Montorsi, Robert J Stein, Georges Pascal Haber, Lance J Hampton, Prokar Dasgupta, Michele Gallucci, Jihad Kaouk, Francesco Porpiglia
BACKGROUND: While partial nephrectomy (PN) represents the standard surgical management for cT1 renal masses, its role for cT2 tumors is controversial. Robot-assisted PN (RAPN) is being increasingly implemented worldwide. OBJECTIVE: To analyze perioperative, functional, and oncological outcomes of RAPN for cT2 tumors. DESIGN, SETTING, AND PARTICIPANTS: Retrospective analysis of a large multicenter, multinational dataset of patients with nonmetastatic cT2 masses treated with robotic surgery (ROSULA: RObotic SUrgery for LArge renal mass)...
August 2018: European Urology
Huma Arshad Cheema, Hassan Suleman Malik, Nadia Waheed, Iqra Mushtaq, Zafar Fayyaz, Mohammad Nadeem Anjum
Berardinelli-Seip congenital lipodystrophy (BSCL) syndrome is a rare genetic disorder caused by dysregulation of glycemic and lipid metabolism. We report five BSCL cases with typical clinical pictures and complications. These, to the best of our knowledge, represent the first case series from Pakistan. BSCL is characterized by marked atrophy of adipose tissue, acromegaly, acanthosis nigricans and tall stature. We could not perform genetics studies in any patient owing to non-availability of genetic laboratory in Pakistan...
May 2018: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
Anna Pichiecchio, Francesco Alessandrino, Chandra Bortolotto, Alessandra Cerica, Cristina Rosti, Maria Vittoria Raciti, Marta Rossi, Angela Berardinelli, Giovanni Baranello, Stefano Bastianello, Fabrizio Calliada
The aim of this study was to determine muscle tissue elasticity, measured with shear-wave elastography, in selected lower limb muscles of patients affected by Duchenne muscular dystrophy (DMD) and to correlate the values obtained with those recorded in healthy children and with muscle magnetic resonance imaging (MRI) data from the same DMD children, specifically the pattern on T1-weighted (w) and short-tau inversion recovery (STIR) sequences. Five preschool DMD children and five age-matched healthy children were studied with shear-wave elastography...
June 2018: Neuromuscular Disorders: NMD
B Barboni, V Russo, P Berardinelli, A Mauro, L Valbonetti, H Sanyal, A Canciello, L Greco, A Muttini, V Gatta, L Stuppia, M Mattioli
The field of regenerative medicine is moving toward clinical practice in veterinary science. In this context, placenta-derived stem cells isolated from domestic animals have covered a dual role, acting both as therapies for patients and as a valuable cell source for translational models. The biological properties of placenta-derived cells, comparable among mammals, make them attractive candidates for therapeutic approaches. In particular, stemness features, low immunogenicity, immunomodulatory activity, multilineage plasticity, and their successful capacity for long-term engraftment in different host tissues after autotransplantation, allo-transplantation, or xenotransplantation have been demonstrated...
January 2018: Cell Transplantation
F Sirri, M Zampiga, A Berardinelli, A Meluzzi
The aim of this study was to investigate the variability and relationships between some egg physical (egg weight, width, length, shape index, and surface area) and eggshell parameters (weight and percentage, thickness, breaking strength, and L*, a*, and b* values) during the entire laying hen cycle. A total of 8,000 eggs was collected every 5 wk, from 30 to 81 wk of hen age (10 samplings of 400 eggs/house), in 2 identical poultry houses equipped with enriched cages. For the statistical analysis, ANOVA, Bivariate Correlation, Principal Component Analysis (PCA), and Hierarchical Cluster Analysis were used...
May 1, 2018: Poultry Science
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