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https://read.qxmd.com/read/30767895/berardinelli-seip-syndrome-and-progressive-myoclonus-epilepsy
#1
Domenico Serino, Chiara Davico, Nicola Specchio, Carlo Efisio Marras, Franco Fioretto
Berardinelli-Seip syndrome, or congenital generalized lipodystrophy type 2 (CGL2), is characterized by a lack of subcutaneous adipose tissue and precocious metabolic syndrome with insulin resistance, resulting in diabetes, dyslipidaemia, hepatic steatosis, cardiomyopathy, and acanthosis nigricans. Most reported mutations are associated with mild, non-progressive neurological impairment. We describe the clinical and EEG data of a patient with progressive myoclonus epilepsy (PME), CGL2, and progressive neurological impairment, carrying a homozygous BSCL2 nonsense mutation...
February 15, 2019: Epileptic Disorders: International Epilepsy Journal with Videotape
https://read.qxmd.com/read/30742910/physiological-and-pathological-levels-of-prostaglandin-e-2-in-renal-parenchyma-and-neoplastic-renal-tissue
#2
Vittore Verratti, Luigi Brunetti, Claudio Ferrante, Giustino Orlando, Lucia Recinella, Annalisa Chiavaroli, Sheila Leone, Run Wang, Francesco Berardinelli
Prostaglandin (PG)E2 seems to promote tumor proliferation by regulating cell growth, inhibiting apoptosis, promoting angiogenesis, and suppressing host immune surveillance of cancer cells. The suppression of prostaglandins biosynthesis is thought to be the main molecular mechanism for non-steroidal anti-inflammatory drugs antineoplastic effect. Yet the relationship between PGE2 and human renal cell carcinoma remains unclear. The aim of our study is to evaluate the PGE2 content in human renal parenchyma and Renal Cell Carcinoma...
February 8, 2019: Prostaglandins & Other Lipid Mediators
https://read.qxmd.com/read/30734072/robotic-versus-laparoscopic-radical-nephrectomy-a-large-multi-institutional-analysis-rosula-collaborative-group
#3
Uzoma A Anele, Michele Marchioni, Bo Yang, Giuseppe Simone, Robert G Uzzo, Clayton Lau, Maria C Mir, Umberto Capitanio, James Porter, Ken Jacobsohn, Nicolo de Luyk, Andrea Mari, Kidon Chang, Cristian Fiori, Jay Sulek, Alexandre Mottrie, Wesley White, Sisto Perdona, Giuseppe Quarto, Ahmet Bindayi, Akbar Ashrafi, Luigi Schips, Francesco Berardinelli, Chao Zhang, Michele Gallucci, Miguel Ramirez-Backhaus, Alessandro Larcher, Patrick Kilday, Michael Liao, Peter Langenstroer, Prokar Dasgupta, Ben Challacombe, Alexander Kutikov, Andrea Minervini, Koon Ho Rha, Chandru P Sundaram, Lance J Hampton, Francesco Porpiglia, Monish Aron, Ithaar Derweesh, Riccardo Autorino
OBJECTIVE: To compare the outcomes of robotic radical nephrectomy (RRN) to those of laparoscopic radical nephrectomy (LRN) for large renal masses. METHODS: This was a retrospective analysis of RRN and LRN cases performed for large (≥ cT2) renal masses from 2004 to 2017 and collected in the multi-institutional international database (ROSULA: RObotic SUrgery for LArge renal masses). Peri-operative, functional, and oncologic outcomes were compared between each approach...
February 7, 2019: World Journal of Urology
https://read.qxmd.com/read/30598580/relationship-between-fusobacterium-nucleatum-inflammatory-mediators-and-micrornas-in-colorectal-carcinogenesis
#4
Marcela Alcântara Proença, Joice Matos Biselli, Maysa Succi, Fábio Eduardo Severino, Gustavo Noriz Berardinelli, Alaor Caetano, Rui Manuel Reis, David J Hughes, Ana Elizabete Silva
AIM: To examine the effect of Fusobacterium nucleatum ( F. nucleatum ) on the microenvironment of colonic neoplasms and the expression of inflammatory mediators and microRNAs (miRNAs). METHODS: Levels of F. nucleatum DNA, cytokine gene mRNA ( TLR2 , TLR4 , NFKB1 , TNF , IL1B , IL6 and IL8 ), and potentially interacting miRNAs (miR-21-3p, miR-22-3p, miR-28-5p, miR-34a-5p, miR-135b-5p) were measured by quantitative polymerase chain reaction (qPCR) TaqMan® assays in DNA and/or RNA extracted from the disease and adjacent normal fresh tissues of 27 colorectal adenoma (CRA) and 43 colorectal cancer (CRC) patients...
December 21, 2018: World Journal of Gastroenterology: WJG
https://read.qxmd.com/read/30591524/ago2-promotes-telomerase-activity-and-interaction-between-the-telomerase-components-tert-and-terc
#5
Ilaria Laudadio, Francesca Orso, Gianluca Azzalin, Carlo Calabrò, Francesco Berardinelli, Elisa Coluzzi, Silvia Gioiosa, Daniela Taverna, Antonella Sgura, Claudia Carissimi, Valerio Fulci
Telomerase reverse transcriptase (TERT) and telomerase RNA component (TERC) constitute the core telomerase enzyme that maintains the length of telomeres. Telomere maintenance is affected in a broad range of cancer and degenerative disorders. Taking advantage of gain- and loss-of-function approaches, we show that Argonaute 2 (AGO2) promotes telomerase activity and stimulates the association between TERT and TERC AGO2 depletion results in shorter telomeres as well as in lower proliferation rates in vitro and in vivo We also demonstrate that AGO2 interacts with TERC and with a newly identified sRNA ( terc -sRNA), arising from the H/ACA box of TERC Notably, terc -sRNA is sufficient to enhance telomerase activity when overexpressed...
December 27, 2018: EMBO Reports
https://read.qxmd.com/read/30563316/berardinelli-seip-syndrome-patient-with-novel-agpat2-splicesite-mutation-and-concomitant-development-of-non-diabetic-polyneuropathy
#6
Joanna Oswiecimska, Mateusz Dawidziuk, Tomasz Gambin, Katarzyna Ziora, Marta Marek, Sylwia Rzonca, D. Lys Guilbride, Shalini N. Jhangiani, Anna Obuchowicz, Alicja Sikora, James R. Lupski, Wojciech Wiszniewski, Pawel Gawlinski
Primary polyneuropathy in the context of Seip-Berardinelli type 1 seipinopathy, or congenital lipodystrophy type 1 (CGL1) is previously unknown. We report the case history of a 27 year old female CGL1 patient presenting with unusual additional development of non-diabetic peripheral neuropathy (PN) and learning disabilities in early adolescence. Whole exome sequencing (WES) of the patient genome identifies a novel rare variant homozygous for a 52 bp intronic deletion in the AGPAT2 locus uniquely associated with CGL1 seipinopathies, with no molecular evidence for dual diagnosis...
December 19, 2018: Journal of Clinical Research in Pediatric Endocrinology
https://read.qxmd.com/read/30553478/screening-and-characterization-of-brca2-c-156_157insalu-in-brazil-results-from-1380-individuals-from-the-south-and-southeast
#7
Paula Silva Felicio, Barbara Alemar, Aline Silva Coelho, Gustavo Noriz Berardinelli, Matias Eliseo Melendez, André Van Helvoort Lengert, Rodrigo Depieri Miche Lli, Rui M Reis, Gabriela Carvalho Fernandes, Ingrid Petroni Ewald, Camila Matzenbacher Bittar, Cristina Brinckmann Oliveira Netto, Osvaldo Artigalas, Ana Peixoto, Manuela Pinheiro, Manuel R Teixeira, Fernando Regla Vargas, Anna Cláudia Evangelista Dos Santos, Miguel Angelo Martins Moreira, Patricia Ashton-Prolla, Edenir Inêz Palmero
Portuguese immigration to Brazil occurred in several waves and greatly contributed to the genetic composition of current Brazilian population. In this study, we evaluated the frequency of a Portuguese founder Alu insertion in BRCA2 exon 3 (c.156_157insAlu) among individuals fulfilling Hereditary Breast and Ovarian Cancer (HBOC) syndrome criteria in 1,380 unrelated families originated from three distinct Brazilian States. We identified the c.156_157insAlu BRCA2 mutation in nine (9/1,380; 0.65%) probands analised...
December 2018: Cancer Genetics
https://read.qxmd.com/read/30552465/correction-to-structural-modeling-of-a-novel-terc-variant-in-a-patient-with-aplastic-anemia-and-short-telomeres
#8
M Rinelli, E Bellacchio, F Berardinelli, G Pascolini, P Grammatico, A Sgura, A P Iori, L Quattrocchi, A Novelli, S Majore, E Agolini
The original version of this article contained a mistake in the affiliation of E. Bellacchio. Correct affiliation is presented here.
December 14, 2018: Annals of Hematology
https://read.qxmd.com/read/30539009/artificial-neural-network-to-predict-varicocele-impact-on-male-fertility-through-testicular-endocannabinoid-gene-expression-profiles
#9
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
https://read.qxmd.com/read/30521848/novel-metabolic-disorders-in-skeletal-muscle-of-lipodystrophic-bscl2-seipin-deficient-mice
#10
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
https://read.qxmd.com/read/30426883/onabotulinumtoxin-a-improves-health-status-and-urinary-symptoms-in-subjects-with-refractory-overactive-bladder-real-life-experience
#11
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
https://read.qxmd.com/read/30296183/monogenic-forms-of-lipodystrophic-syndromes-diagnosis-detection-and-practical-management-considerations-from-clinical-cases
#12
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
https://read.qxmd.com/read/30230297/new-insight-in-penile-cancer
#13
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
https://read.qxmd.com/read/30208912/impairment-of-respiratory-muscle-strength-in-berardinelli-seip-congenital-lipodystrophy-subjects
#14
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
https://read.qxmd.com/read/30166092/functional-assessment-tools-in-children-with-pompe-disease-a-pilot-comparative-study-to-identify-suitable-outcome-measures-for-the-standard-of-care
#15
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
https://read.qxmd.com/read/30095224/naphthalene-diimide-derivatives-g-quadruplex-ligands-induce-cell-proliferation-inhibition-mild-telomeric-dysfunction-and-cell-cycle-perturbation-in-u251mg-glioma-cells
#16
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
https://read.qxmd.com/read/30049710/seipin-regulates-lipid-homeostasis-by-ensuring-calcium-dependent-mitochondrial-metabolism
#17
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
https://read.qxmd.com/read/29983889/advantage-of-hsp110-t17-marker-inclusion-for-microsatellite-instability-msi-detection-in-colorectal-cancer-patients
#18
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://read.qxmd.com/read/29959569/disruption-of-mek-erk-c-myc-signaling-radiosensitizes-prostate-cancer-cells-in-vitro-and-in-vivo
#19
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
https://read.qxmd.com/read/29924848/upper-limb-function-in-duchenne-muscular-dystrophy-24-month-longitudinal-data
#20
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
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