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https://www.readbyqxmd.com/read/30095224/naphthalene-diimide-derivatives-g-quadruplex-ligands-induce-cell-proliferation-inhibition-mild-telomeric-dysfunction-and-cell-cycle-perturbation-in-u251mg-glioma-cells
#1
D Muoio, F Berardinelli, S Leone, E Coluzzi, A di Masi, F Doria, M Freccero, A Sgura, M Folini, A 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
https://www.readbyqxmd.com/read/30049710/seipin-regulates-lipid-homeostasis-by-ensuring-calcium-dependent-mitochondrial-metabolism
#2
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...
July 26, 2018: EMBO Journal
https://www.readbyqxmd.com/read/29983889/advantage-of-hsp110-t17-marker-inclusion-for-microsatellite-instability-msi-detection-in-colorectal-cancer-patients
#3
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
https://www.readbyqxmd.com/read/29959569/disruption-of-mek-erk-c-myc-signaling-radiosensitizes-prostate-cancer-cells-in-vitro-and-in-vivo
#4
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...
June 29, 2018: Journal of Cancer Research and Clinical Oncology
https://www.readbyqxmd.com/read/29924848/upper-limb-function-in-duchenne-muscular-dystrophy-24-month-longitudinal-data
#5
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
https://www.readbyqxmd.com/read/29883474/causes-of-death-in-patients-with-berardinelli-seip-congenital-generalized-lipodystrophy
#6
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
https://www.readbyqxmd.com/read/29873509/presence-of-microsatellite-instability-in-esophageal-squamous-cell-carcinoma-associated-with-chagasic-megaesophagus
#7
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
https://www.readbyqxmd.com/read/29864145/nurses-knowledge-about-berardinelli-seip-congenital-lipodystrophy
#8
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
https://www.readbyqxmd.com/read/29784191/outcomes-of-robot-assisted-partial-nephrectomy-for-clinical-t2-renal-tumors-a-multicenter-analysis-rosula-collaborative-group
#9
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
https://www.readbyqxmd.com/read/29690976/berardinelli-seip-congenital-generalised-lipodystrophy
#10
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
https://www.readbyqxmd.com/read/29661643/muscle-ultrasound-elastography-and-mri-in-preschool-children-with-duchenne-muscular-dystrophy
#11
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
https://www.readbyqxmd.com/read/29562773/placental-stem-cells-from-domestic-animals-translational-potential-and-clinical-relevance
#12
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
https://www.readbyqxmd.com/read/29506193/variability-and-interaction-of-some-egg-physical-and-eggshell-quality-attributes-during-the-entire-laying-hen-cycle
#13
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
https://www.readbyqxmd.com/read/29493436/trifecta-and-pentafecta-rates-after-robotic-assisted-partial-nephrectomy-comparative-study-of-patients-with-renal-masses-4-and-%C3%A2-4-cm
#14
Roberto Castellucci, Giulia Primiceri, Pietro Castellan, Michele Marchioni, Carlo D'Orta, Francesco Berardinelli, Fabio Neri, Luca Cindolo, Luigi Schips
OBJECTIVES: Robotic-assisted partial nephrectomy (RAPN) is preferred to radical nephrectomy because it guarantees superior functional outcomes in patients with small renal masses (RMs). Only a few studies so far have evaluated the feasibility of RAPN for the treatment of RM ≥4 cm. The aim of this study is to evaluate the safety and feasibility of RAPN based on a comparison of trifecta and pentafecta rates for RMs ≥4 cm. MATERIAL AND METHODS: We retrospectively analyzed prospectively collected data from an institutional database of patients undergoing RAPN from September 2013 to November 2016...
July 2018: Journal of Laparoendoscopic & Advanced Surgical Techniques. Part A
https://www.readbyqxmd.com/read/29484821/the-g-quadruplex-stabilizing-ligand-rhps4-enhances-sensitivity-of-u251mg-glioblastoma-cells-to-clinical-carbon-ion-beams
#15
EDITORIAL
Francesco Berardinelli, Antonella Sgura, Angelica Facoetti, Stefano Leone, Barbara Vischioni, Mario Ciocca, Antonio Antoccia
The pentacyclic acridine RHPS4 is a highly potent and specific G-quadruplex (G4) ligand, which binds and stabilizes telomeric G4 leading to the block of the replication forks at telomeres and consequently to telomere dysfunctionalization. In turn, the cell recognizes unprotected telomeres as DNA double-strand breaks with consequent activation of DNA repair response at telomeres, cellular growth impairment, and death. Data from the literature showed the capability of this compound to sensitize U251MG glioblastoma radioresistant cell line to X-rays sparsely ionizing radiations...
April 2018: FEBS Journal
https://www.readbyqxmd.com/read/29463031/telomere-length-maintenance-in-cancer-at-the-crossroad-between-telomerase-and-alternative-lengthening-of-telomeres-alt
#16
REVIEW
Marco De Vitis, Francesco Berardinelli, Antonella Sgura
Eukaryotic cells undergo continuous telomere shortening as a consequence of multiple rounds of replications. During tumorigenesis, cells have to acquire telomere DNA maintenance mechanisms (TMMs) in order to counteract telomere shortening, to preserve telomeres from DNA damage repair systems and to avoid telomere-mediated senescence and/or apoptosis. For this reason, telomere maintenance is an essential step in cancer progression. Most human tumors maintain their telomeres expressing telomerase, whereas a lower but significant proportion activates the alternative lengthening of telomeres (ALT) pathway...
February 18, 2018: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29452367/variant-in-human-pofut1-reduces-enzymatic-activity-and-likely-causes-a-recessive-microcephaly-global-developmental-delay-with-cardiac-and-vascular-features
#17
Hideyuki Takeuchi, Derek Wong, Michael Schneider, Hudson H Freeze, Megumi Takeuchi, Steven J Berardinelli, Atsuko Ito, Hane Lee, Stanley F Nelson, Robert S Haltiwanger
Protein O-fucosyltransferase-1 (POFUT1) adds O-fucose monosaccharides to epidermal growth factor-like (EGF) repeats found on approximately 100 mammalian proteins, including Notch receptors. Haploinsufficiency of POFUT1 has been linked to adult-onset Dowling Degos Disease (DDD) with hyperpigmentation defects. Homozygous deletion of mouse Pofut1 results in embryonic lethality with severe Notch-like phenotypes including defects in somitogenesis, cardiogenesis, vasculogenesis and neurogenesis, but the extent to which POFUT1 is required for normal human development is not yet understood...
May 1, 2018: Glycobiology
https://www.readbyqxmd.com/read/29412397/experience-of-people-living-with-the-berardinelli-seip-syndrome-in-the-brazilian-northeast
#18
Éverson de Brito Damasceno, Jakson Gomes de Figueiredo, Jean Marcel Bezerra França, Júlio Cesar Duarte Veras, Raul Elton Araújo Borges, Lucas Pereira de Melo
This paper analyzes the experience of people living with the Berardinelli-Seip Syndrome in the Brazilian Northeast. This qualitative study was developed with eleven informants, namely, nine people living with the syndrome and two mothers. Information was gathered using participant observation, social characterization and semi-structured interviews. Data were analyzed by means of a thematic coding technique. Two categories emerged: (1) 'the secret is to shut your mouth': food management in daily life; and (2) 'Ah, is it a transvestite?' body, gender, and masculinization...
February 2018: Ciência & Saúde Coletiva
https://www.readbyqxmd.com/read/29236949/seipin-deficiency-leads-to-increased-endoplasmic-reticulum-stress-and-apoptosis-in-mammary-gland-alveolar-epithelial-cells-during-lactation
#19
Ahmed E El Zowalaty, Rong Li, Weiqin Chen, Xiaoqin Ye
Seipin is an integral endoplasmic reticulum (ER) membrane protein encoded by Berardinelli-Seip congenital lipodystrophy type 2 (BSCL2/Bscl2) gene. Most litters (59%) from Bscl2-/- dams mated with wild type (WT) (Bscl2+/+) males did not survive postnatal day 5 (PND5) and pups (Bscl2+/-) lacked milk in their stomachs. The survived litters had reduced pup survival rate at PND21. It was hypothesized that seipin was critical for lactation. Bscl2 was upregulated and highly detected in the lactation day 1 (LD1) WT mammary gland alveolar epithelial cells...
April 1, 2018: Biology of Reproduction
https://www.readbyqxmd.com/read/29229582/survival-after-cytoreductive-nephrectomy-in-metastatic-non-clear-cell-renal-cell-carcinoma-patients-a-population-based-study
#20
Michele Marchioni, Marco Bandini, Felix Preisser, Zhe Tian, Anil Kapoor, Luca Cindolo, Giulia Primiceri, Francesco Berardinelli, Alberto Briganti, Shahrokh F Shariat, Luigi Schips, Pierre I Karakiewicz
BACKGROUND: The benefit of cytoreductive nephrectomy (CNT) for cancer-specific mortality (CSM)-free survival is unclear in contemporary metastatic non-clear cell renal cell carcinoma (non-ccmRCC) patients. OBJECTIVE: To assess the role of CNT in non-ccmRCC patients. DESIGN, SETTING, AND PARTICIPANTS: Within Surveillance, Epidemiology, and End Results registry (2001-2014), we identified patients with non-ccmRCC. INTERVENTION: CNT versus no CNT in non-ccmRCC patients...
December 8, 2017: European Urology Focus
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