Jonathan Northcroft, P B, Waldemar Januszczak, John Dugdale, Bertie Wooster, Karen Krizanovich, Yugo Kovach, Matthew Wall, Barbara Hall, Judith O'Reilly Education Correspondent, Tony Barrell, Fred Redwood, Eduardo Goncalves, Jim Munro, Philip Norman, Cliff Goodwin, Planto della Madonna, Nicholas Rufford, Phelim McAleer, John Peter, Brigitte Scheffer, Pam Barrett, Emma Moore, Stephen Bevan Transport Correspondent, Amanda Ursell, Rosina Permaul, Chris Tarrant, John Jay, Christopher Bowen, Susan d'Arcy, Anne-Marie Conway, Philip Ward, Gareth Walsh, Frank Whitford, Ravi Shastri, Ivo Tennant, Kathy Lette, Ferdinand Mount, Robert Peacock, Lucy Elkins, Sally O'Reilly, Lucy Hughes-Hallett, John Harlow Social Affairs Editor, Tim Richards, Kirstie Hamilton City Editor, Sally Payne, Lucy Irvine, Melanie Phillips, Nick Pitt, David Cohen, Neil Wormald, Andrew Sullivan, Alan Clark MP, Clive Davis, Stephen Grey, Mary Wilson, D K, Dylan Jones, Bruce Kemble, Robina Dam, Joseph Dunn, Tony Allen-Mills, Simon Wilde, Martin James, Robert Sandall, Annunziata Rees-Mogg, Eleanor Mills, Susan d'ARCY, Anthony Sattin, Robert Winnett, Jeremy Seal, Robert Hewison, Peter Wilson, Tim Bird, Roger Anderson, Angela Mollard, David Dougill, Paul Muldoon, Brigadier Simon Hill Chief of Staff to Commandant General, John Evans, David Harrison, Thrasy Petropoulos, Norman Shepherd, Dr John Jackson, David Hewson, Tania Alexander, Chris Hastings, Roy Hinchliff, Margaret Coles, Jonathon Carr-Brown, Hugh Mcllvanney, Mark Mazower, Ann Clwyd Mp, Sylvie Deroche, Jeremy Clarkson, Juliette Terzieff, Nigel Williams, Michael Saunders, Peter Kemp, Louise Taylor, James Major, Edward Porter, Stewart Lee, Mark Franchett, Rachael Forder, Eben Black, Adam Coffer, Mark Franchetti Blace, James Clarke, Graham Otway, Robin Marlar, Hugh McManners Defence Correspondent, Gerry Adams, Shelley von Strunckel, Anne Marie Conway, Sylvie Nickels, Paul Ham, Stuart Wavell, Josephine Smit, Peter Booth, P Stockley, Lynn Eaton, Steve Waugh, Eric Clapton, Frances Spalding, Digby Hildreth, Robert Graves, Caroline Aherne, Sue Lawrence, Paul Driver, Derek Clements, Boris Schapiro, Ann McFerran, Nick Newman, John Follain, Maeve Sheehan, Lee Lucas, Juliette Terzieff Kosovo, Ian Hawkey, Steven Downes, Alex Ferguson, Richard Brooks, David Leppard, Russell Hicks, Jay McINERNEY, Alicia Wyllie, Mark Edwards, Steve Farrar Science Correspondent, Kirstie Hamilton, Tom Shone, Sarah Gracie, Susan Clark, David Lawrenson, John Makin, Nicholas Rufford Home Affairs Editor, Tim Clifford, Stephen Ashworth, Celia Brayfield, Hugh Canning, Hugo Barnacle, Barry Took, Matthew Kalman, Raymond Keene, Patrick Jones, Gareth Huw Davies, Paul Brown, Brian Walsh, Norman Silver, Cosmo Landesman, Zoe Brennan, Marie Colvin, Simon Willis, Diana Wright, R W, Helen Hawkins, Stephen Jones, Paul Nuki Consumer Affairs Editor, Richard Evans, Peta Bee, Stephen Bevan, F Baker, Alistair Darling Secretary of State for Social Security, Paul Slatter, Natalie Graham, Paul Nuki, Mark Bowden, David Cottle, Tim Pitcher, Rob Ryan, Miranda Seymour, Tim Watson, Jeremy Paxman, John Stern, Trevor Lewis, Jack Grimston, Susan Redstone, Bryan Appleyard, Mark Macaskill, Peter Taylor, Paul Kavanagh, R W Johnson, Mark Prigg, L Gittings, Richard Woods, Roland White, Garth Alexander, Nicole Rothschild, Marcello Mega, Richard Heron, Nick Hanna, Andrew Lorenz Business Editor, S Finch, Ray Hutton, Jonathan Powell, Jon Ungoed-Thomas, Stephen Downes, Maureen Finnerty, Charles Lubar, Susan Elkin, Ricky Dalton, Kevin Sharpe, Juliet Oxborrow, Margaret Cook, Michael Sheridan, Margaret Walters, Godfrey Smith, Michael Austin, Peter Morris, Mandy Payne, Hunter Davies, Paul Rowan, Terry Murden, A A Gill, Matthew Campbell, Brian Glanville, Alan Myers, David Hutcheon, Tom Robbins, Kathryn Kenny, Tony O'Neil, Robert Johnston, Jonathan Carr-Brown, Stephen Pettitt, Sally Kinnes, Andrew Lorenz, Naomi Caine, Liam Clarke, David Wickers, Jane Hardy, Jane Thorne, Roger Dobson, Tom Rhodes, William Safire US Columnist, Martin Ouvry, Jeremy Lazell, Tony Banks, Mark Hodson, Charmian Evans Kukes, Nicholas Hellen Media Correspondent, Joe Lovejoy, Mark Porter, Rupert Steiner, Brian Pendreigh, Robert M Adams, John Allwood, Emma Noble, Dan Cairns, David Parsley, Phillip Knightley, Germaine Greer, Mrs Mills, R Hopper, Richard Whiteley, Simon Trump, Michael Sheridan Manila, Gavin Evans, General Sir Michael Rose, Rabbi Shmuley Boteach, Anthony Howard, Graham Spooner, Philip Kingsley The leading trichologist, Jonathan Aitken, Stephen Boyd, India Knight, Joanna Simon, Emma Taylor, Zoe Linkson, Simon Howard, Angus Pearson, Danny Danziger, Dan Pearson, Dominic Rushe, Sian Griffiths, Karen Robinson,
... Advertising Items FPDSavills Mountgrange Multiple Classified Advertising Items Campos de Guadalmina Multiple Classified Advertising Items Coombe Hill ...
1999 - Gale Group | Sunday Times HA GDA
Bruce Linder, Mario Campos, Michael E. Schafer,
This article begins with a discussion of normal orbital anatomy and the terminology involved in the description of abnormalities of the orbit. Case reports of patients with neurofibromatosis or with a craniofacial anomaly are presented, and the characteristic orbital findings on both CT and MRI are reviewed. Thus the radiologist's role and the value of CT and MRI in the overall treatment of these often complex abnormalities are elucidated.
Tópico(s): Soft tissue tumor case studies
1987 - Elsevier BV | Radiologic Clinics of North America
Mahmood F. Mafee, Allen M. Putterman, Galdino E. Valvassori, Mario Campos, Vlastimil Capek,
Tópico(s): Meningioma and schwannoma management
1987 - Elsevier BV | Radiologic Clinics of North America
Mahmood F. Mafee, Barry C. Levin, Edward L. Applebaum, Mario Campos, Charles F. James,
High-resolution CT scanning accurately depicts the status of the structures of the temporal bone, allowing delineation of pathology prior to surgical exploration of ears with cholesteatoma. It provides information concerning location and extent of disease as well as possible anatomic variations and complications that may be encountered. The main advantages of CT scanning over polytomography are superior soft-tissue contrast resolution and improved spatial detail at a reduced radiation dose for the ...
Tópico(s): Facial Nerve Paralysis Treatment and Research
1988 - Elsevier BV | Otolaryngologic Clinics of North America
Mahmood F. Mafee, Mario Campos, Subba Raju, Evan Samett, Hossein Mohamadi, Saeid Sadighi, H Leslie Heffez, Michael Friedman, James M. Chow,
A comparative review of head and neck lesions examined with both CT and MRI showed that the location and extent of lesions can be more precisely evaluated with MRI. MRI allows better differentiation of neurogenic tumors from other lesions. Vascular structures are easily visualized on MRI without intravenous contrast and can easily be differentiated from lymph nodes. However, cystic lesions and necrotic nodes sometimes could not be differentiated from solid lesions when using MRI.
Tópico(s): Sarcoma Diagnosis and Treatment
1988 - Elsevier BV | Otolaryngologic Clinics of North America
Produção Nacional
Revisado por pares
Mário Campos, Sarah M. Churchman, Cíntia Barros Santos-Rebouças, Frédérique Ponchel, Márcia Mattos Gonçalves Pimentel,
Tópico(s): Autism Spectrum Disorder Research
2009 - Springer Science+Business Media | Journal of Molecular Neuroscience
Produção Nacional
Revisado por pares
Cláudia Bueno Abdalla-Carvalho, Cíntia Barros Santos-Rebouças, Bonfim Guimarães, Mário Campos, João Santos Pereira, Ana Lúcia Zuma de Rosso, Denise Hack Nicaretta, M. Marinho e Silva, Jussara Mendonça dos Santos, Márcia Mattos Gonçalves Pimentel,
Background and purpose: Mutations in the leucine‐rich repeat kinase 2 gene ( LRRK2 ) have been associated with Parkinson’s disease (PD), and the majority of the pathogenic variants are located in the ROC and MAPKKK domains. Methods: Exons 29–31 and 38–44 (ROC and MAPKKK domains) were sequenced in 204 patients with PD, mostly Brazilian. Results: We identified four polymorphisms, a novel silent variant p.R1398R and four substitutions: p.T1410M, p.G2019S, p.Y2189C and the novel variant p.C2139S. Conclusions: ...
Tópico(s): Plant Gene Expression Analysis
2010 - Wiley | European Journal of Neurology
Produção Nacional
Revisado por pares
Adriana Vaz dos Santos, Cristiane Pinheiro Pestana, Karen Rafaella da Silva Diniz, Mário Campos, Cláudia Bueno Abdalla-Carvalho, Ana Lúcia Zuma de Rosso, João Santos Pereira, Denise Hack Nicaretta, William Luciano de Carvalho, Jussara Mendonça dos Santos, Cíntia Barros Santos-Rebouças, Márcia Mattos Gonçalves Pimentel,
In the last decade, several genes have been linked to Parkinson's disease (PD), including GIGYF2, ATP13A2 and GBA. To explore whether mutations in these genes contribute to development of PD in the Brazilian population, we screened 110 patients with early-onset PD. No clearly pathogenic mutations were identified in ATP13A2 and GIGYF2. In contrast, we identified a significantly higher frequency of known pathogenic mutations in GBA gene among the PD cases (6/110 = 5.4%) when compared to the control group ( ...
Tópico(s): Neurological diseases and metabolism
2010 - Elsevier BV | Neuroscience Letters
Produção Nacional
Revisado por pares
Márcia Mattos Gonçalves Pimentel, Karla Cristina Vasconcelos Moura, Cláudia Bueno Abdalla, João Santos Pereira, Ana Lúcia Zuma de Rosso, Denise Hack Nicaretta, Mário Campos, Richard Morais de Almeida, Jussara Mendonça dos Santos, Izabel Cristina Constantino Bastos, María Fernanda Mendes, Henryk Maultasch, Flavio Henrique de Rezende Costa, Antônio Luiz dos Santos Werneck, Cíntia Barros Santos-Rebouças,
Mutations in the Leucine-rich repeat kinase 2 (LRRK2) gene are known as a common cause of Parkinson's disease (PD) among patients from different geographic origins. In this study, we evaluated the prevalence of LRRK2 mutations in exons 31 and 41 in a cohort of 154 consecutive, unrelated Brazilian patients with familial or sporadic PD, including early and late onset patients. The LRRK2 p.G2019S mutation was present in heterozygous state in three index cases (∼2%), and in three additional relatives. No ...
Tópico(s): Neurological disorders and treatments
2007 - Elsevier BV | Neuroscience Letters
Susana Machado, Nuno Figueiredo, Andreia Borges, Maria Pais, Luís Carlos Bastos Freitas, Paulo Moura, Mário Campos,
EPHROL AbstrActThe incidence of acute kidney injury in pregnancy declined significantly over the second half of the 20th century; however, it is still associated with major maternal and perinatal morbidity and mortality.A set of systemic and renal physiological adaptive mechanisms occur during a normal gestation that will constrain several changes in laboratory parameters of renal function, electrolytes, fluid and acid-base balances.The diagnosis of acute kidney injury in pregnancy is based on the ...
Tópico(s): Acute Kidney Injury Research
2011 - Springer Science+Business Media | Journal of Nephrology
Produção Nacional
Revisado por pares
Cíntia Barros Santos-Rebouças, Natália Fintelman-Rodrigues, Lars Riff Jensen, Andreas W. Kuß, Márcia Gonçalves Ribeiro, Mário Campos, Jussara Mendonça dos Santos, Márcia Mattos Gonçalves Pimentel,
Mutations in the Jumonji AT-rich interactive domain 1C (JARID1C/SMCX/KDM5C) gene, located at Xp11.22, are emerging as frequent causes of X-linked intellectual disability (XLID). KDM5C encodes for a member of an ARID protein family that harbors conserved DNA-binding motifs and acts as a histone H3 lysine 4 demethylase, suggesting a potential role in epigenetic regulation during development, cell growth and differentiation. In this study, we describe clinical and genetic findings of a Brazilian family ...
Tópico(s): Autism Spectrum Disorder Research
2011 - Elsevier BV | Neuroscience Letters
Produção Nacional
Revisado por pares
Beatriz de Carvalho Guimarães, Ana Carolina Valente Pereira, Fabíola da Costa Rodrigues, Adriana Vaz dos Santos, Mário Campos, Jussara Mendonça dos Santos, Flávia Lima dos Santos, Ana Lúcia Zuma de Rosso, Denise Hack Nicaretta, João Santos Pereira, Delson José da Silva, Marcus Vinícius Della Coletta, Cíntia Barros Santos-Rebouças, Márcia Mattos Gonçalves Pimentel,
Tópico(s): Autophagy in Disease and Therapy
2011 - Elsevier BV | Parkinsonism & Related Disorders
Mônica Heilbron, Antônio Carlos Pedrosa‐Soares, Mário Campos Neto, Luiz Carlos da Silva, Rudolph Allard Johannes Trouw, Valdecir de Assis Janasi,
Tópico(s): earthquake and tectonic studies
2004 - | Journal of the Virtual Explorer
Luís Rodrigues, Marta Neves, Susana Machado, Henrique Vieira Gomes, Jorge Pratas, Mário Campos,
Patients with multiple myeloma (MM) manifesting acute kidney injury (AKI) and who later recover renal function and independence from renal replacement therapy (RRT) are considered to have a better outcome. The aim of this work was to study the factors associated with renal function recovery (independence of hemodialysis) and longer survival in these patients.A retrospective single center study including patients with a diagnosis of MM and severe AKI, defined as stage 3 of the Kidney Disease: Improving ...
Tópico(s): Drug-Induced Hepatotoxicity and Protection
2014 - Elsevier BV | European Journal of Internal Medicine
Produção Nacional
Revisado por pares
Karla Cristina Vasconcelos Moura, Mário Campos, Ana Lúcia Zuma de Rosso, Denise Hack Nicaretta, João Santos Pereira, Delson José Silva, Flávia Lima dos Santos, Fabíola da Costa Rodrigues, Cíntia Barros Santos-Rebouças, Márcia Mattos Gonçalves Pimentel,
Parkinson's disease is the second most frequent neurodegenerative disorder in the world, affecting 1-2% of individuals over the age of 65. The etiology of Parkinson's disease is complex, with the involvement of gene-environment interactions. Although it is considered a disease of late manifestation, early-onset forms of parkinsonism contribute to 5–10% of all cases. In the present study, we screened mutations in coding regions of PARK2 and PINK1 genes in 136 unrelated Brazilian patients with early- ...
Tópico(s): Neurological diseases and metabolism
2013 - Hindawi Publishing Corporation | Disease Markers
Produção Nacional
Revisado por pares
Márcia Mattos Gonçalves Pimentel, Fabíola C. Rodrigues, Marco Antônio Araújo Leite, Mário Campos, Ana Lúcia Zuma de Rosso, Denise Hack Nicaretta, João Santos Pereira, Delson José Silva, Marcus Vinícius Della Coletta, Luiz Felipe Rocha Vasconcellos, Gabriella de Medeiros Abreu, Jussara Mendonça dos Santos, Cíntia Barros Santos-Rebouças,
Abstract Background Amongst Parkinson's disease-causing genetic factors, missense mutations and genomic multiplications in the gene encoding α-synuclein are well established causes of the disease, although genetic data in populations with a high degree of admixture, such as the Brazilian one, are still scarce. Methods In this study, we conducted a molecular screening of α-synuclein point mutations and copy number variation in the largest cohort of Brazilian patients with Parkinson's disease (n = 549) and also ...
Tópico(s): Nuclear Receptors and Signaling
2015 - Elsevier BV | Parkinsonism & Related Disorders
Produção Nacional
Revisado por pares
Gustavo Machado Badan, Décio Roveda Júnior, Sebastião Piato, Eduardo de Faria Castro Fleury, Mario Campos, Carlos Alberto Ferreira Pecci, Felipe Augusto Trocoli Ferreira, Camila D'Ávila,
To determine the rates of diagnostic underestimation at stereotactic percutaneous core needle biopsies (CNB) and vacuum-assisted biopsies (VABB) of nonpalpable breast lesions, with histopathological results of atypical ductal hyperplasia (ADH) or ductal carcinoma in situ (DCIS) subsequently submitted to surgical excision. As a secondary objective, the frequency of ADH and DCIS was determined for the cases submitted to biopsy.Retrospective review of 40 cases with diagnosis of ADH or DCIS on the basis ...
Tópico(s): Breast Cancer Treatment Studies
2016 - Colégio Brasileiro de Radiologia e Diagnóstico por Imagem | Radiologia Brasileira
Ignacia Fuentes, Mário Campos, Gabriela M. Repetto, Pilar Morandé, María Joao Yubero, Sergio González, Alfred Klausegger, Peter Schnitzhofer, G. Pohla‐Gubo, Johann Bauer, Francis Palisson,
Epidermolysis bullosa (EB) is an inherited disease encompassing a group of clinically and genetically heterogeneous disorders, characterized by mechanical fragility of epithelial tissue with blistering formation following minor trauma, most notably on the skin1. The junctional form of EB (JEB, OMIM #226650 and #226700) is a monogenic autosomal recessive disorder characterized by blistering within the lamina lucida. JEB, among all EB types, can have the most severe clinical manifestations and the highest ...
Tópico(s): Wnt/β-catenin signaling in development and cancer
2016 - Oxford University Press | British Journal of Dermatology
Produção Nacional
Revisado por pares
Gabriella de Medeiros Abreu, D. Valença, Mário Campos, Camilla P. da Silva, João Santos Pereira, Marco Antônio Araújo Leite, Ana Lúcia Zuma de Rosso, Denise Hack Nicaretta, Luiz Felipe Rocha Vasconcellos, Delson José da Silva, Marcus Vinícius Della Coletta, Jussara Mendonça dos Santos, Andressa Pereira Gonçalves, Cíntia Barros Santos-Rebouças, Márcia Mattos Gonçalves Pimentel,
Amongst Parkinson's disease (PD) genetic factors, mutations in LRRK2, SNCA, VPS35 and GBA genes are recognized causes of PD. Nonetheless, few genetic screenings have been conducted in families with a history of PD consistent with autosomal dominant inheritance (ADPD), and their relevance to the etiology of PD has been poorly explored in Latin American populations, such as the Brazilian one, with a high degree of admixture.In order to assess the contribution of specific mutations in LRRK2, SNCA, VPS35 ...
Tópico(s): Neurological diseases and metabolism
2016 - Elsevier BV | Neuroscience Letters
Produção Nacional
Beatriz Paschoal Duarte, MÁRIO C. H. FIGUEIREDO, MÁRIO CAMPOS NETO, Mônica Heilbron,
O Complexo Juiz de Fora (CJF) foi investigado em sua área-tipo (região de Juiz de Fora, MG) e está inserido em um contexto de evolução geológica complexa, policíclica, com o envolvimento de eventos deformacionais e metamórficos de alto grau recorrentes, que se desenvolveram desde o Arqueano até o Neoproterozóico-Neocambriano.O CJF é constituído de ortognaisses, migmatitos e metabasitos na fácies granulito, tendo, subordinadamente, ortognaisses na fácies anfïbolito.O mapeamento geológico mostrou que ...
Tópico(s): Geochemistry and Geologic Mapping
1997 - Sociedade Brasileira de Geologia | Revista Brasileira de Geociências
Carolina Fernandes, Amílcar Silva, A Macieira Coelho, Mario Campos, F A Pontes,
Blue rubber bleb naevus syndrome is a rare cutaneous-digestive angiomatosis, described first by William Bean in 1958. Today, there are more than 200 cases published. The dangers of this syndrome include angiomata in the brain, kidneys or lungs (due to vasculature obliteration by in situ thrombosis). Patients are scanned with technetium-labelled red blood cells in order to identify the affected organs. Multiple techniques are used to treat the lesions by gastrointestinal endoscopy. Eur J Gastroenterol ...
Tópico(s): Gastrointestinal disorders and treatments
1999 - Lippincott Williams & Wilkins | European Journal of Gastroenterology & Hepatology
Produção Nacional
Revisado por pares
Camilla P. da Silva, Gabriella de Medeiros Abreu, Pedro Hernán Cabello, Mário Campos, João Santos Pereira, Sarah R. de A. Ramos, Caroline Macedo Nascimento, D Voigt, Ana Lúcia Zuma de Rosso, Marco Antônio Araújo Leite, Luiz Felipe Rocha Vasconcellos, Denise Hack Nicaretta, Marcus Vinícius Della Coletta, Delson José da Silva, Andressa Pereira Gonçalves, Jussara Mendonça dos Santos, Veluma Calassara, D. Valença, C. Martins, Cíntia Barros Santos-Rebouças, Márcia Mattos Gonçalves Pimentel,
Parkinson's disease (PD) is a neurodegenerative disorder characterized by remarkable phenotypic variability. Accumulated evidence points that the manifestation of PD clinical signs might be differentially modified by genetic factors, as mutations in LRRK2 and GBA genes. In this sense, the clarification of the genotype-phenotype correlations in PD has important implications in predicting prognosis and can contribute to the development of specific therapeutic approaches.Here, we conducted the first ...
Tópico(s): Neurological diseases and metabolism
2017 - Elsevier BV | Journal of the Neurological Sciences
Produção Nacional
Roberta Magalhães Tarantino, Gabriella de Medeiros Abreu, Ana Carolina Proença De Fonseca, Rosane Kupfer, Maria de Fátima Carvalho Pereira, Mário Campos, Lenita Zajdenverg, Melanie Rodacki,
Objective We aimed to identify the frequency of monogenic diabetes, which is poorly studied in multiethnic populations, due to GCK or HNF1A mutations in patients with suggestive clinical characteristics from the Brazilian population, as well as investigate if the MODY probability calculator (MPC) could help patients with their selection. Subjects and methods Inclusion criteria were patients with DM diagnosed before 35 years; body mass index < 30 kg/m2; negative autoantibodies; and family history of ...
Tópico(s): Genomic variations and chromosomal abnormalities
2019 - Brazilian Society of Endocrinology and Metabolism | Archives of Endocrinology and Metabolism
Produção Nacional
Revisado por pares
Ana Carolina Proença da Fonseca, Gabriella de Medeiros Abreu, Verônica Marques Zembrzuski, Mário Campos, João Régis Ivar Carneiro, José Firmino Nogueira Neto, Giselda Maria Kalil de Cabello, Pedro Hernán Cabello,
Obesity occurs due to the interaction between the genetic background and environmental factors, including an increased food intake and a sedentary lifestyle. Nowadays, it is clear that there is a specific circuit, called leptin-melanocortin pathway, which stimulates and suppresses food intake and energy expenditure. Therefore, the aim of this study was to evaluate the influence of genetic variants related to appetite regulation and energy expenditure on severe obesity susceptibility and metabolic ...
Tópico(s): Adipose Tissue and Metabolism
2019 - Dove Medical Press | Diabetes Metabolic Syndrome and Obesity
Produção Nacional
Revisado por pares
Ana Carolina Proença da Fonseca, Gabriella de Medeiros Abreu, Verônica Marques Zembrzuski, Mário Campos, João Régis Ivar Carneiro, José Firmino Nogueira Neto, Fernanda Cristina Carvalho Mattos Magno, Eliane Lopes Rosado, Patrı́cia T. Bozza, Giselda Maria Kalil de Cabello, Pedro Hernán Cabello,
Tópico(s): Adipose Tissue and Metabolism
2020 - Springer Science+Business Media | Eating and Weight Disorders - Studies on Anorexia Bulimia and Obesity
Produção Nacional
Revisado por pares
Ana Carolina Proença da Fonseca, Gabriella de Medeiros Abreu, Lohanna Palhinha, Verônica Marques Zembrzuski, Mário Campos, João Régis Ivar Carneiro, José Firmino Nogueira Neto, Fernanda Cristina Carvalho Mattos Magno, Eliane Lopes Rosado, Clarissa M. Maya‐Monteiro, Giselda Maria Kalil de Cabello, Pedro Hernán Cabello, Patrı́cia T. Bozza,
Brain-derived neurotrophic factor (BDNF) is a pro-survival factor in the brain that also regulates energy balance. BDNF loss-of-function point mutations are responsible for haploinsufficiency, causing severe early-onset obesity. Up to date, only a few studies have sequenced this gene to search for rare mutations related to obesity. In this study, we aimed to investigate the prevalence of BDNF variants in a cohort of adults with severe obesity from Brazil.This study comprised 201 adults with severe ...
Tópico(s): Protein Degradation and Inhibitors
2021 - Dove Medical Press | Diabetes Metabolic Syndrome and Obesity
Produção Nacional
Revisado por pares
Mário Campos, Cláudia Bueno Abdalla, Cíntia Barros Santos-Rebouças, Adriana Vaz dos Santos, Cristiane Pinheiro Pestana, Mariana Lopes Domingues, Jussara Mendonça dos Santos, Márcia Mattos Gonçalves Pimentel,
MeCP2 is a protein that selectively binds to methylated cytosines through its methyl-CpG-binding domain (MBD) and connects DNA methylation to transcriptional repression. Mutations in MECP2 gene, located in Xq28, have been reported as being the major cause of Rett syndrome and are also associated with some cases of X-linked mental retardation in both males and females. In this study, we present the first screening in the MECP2 gene in a Brazilian cohort of 239 unrelated males with idiopathic mental ...
Tópico(s): Chromatin Remodeling and Cancer
2006 - Elsevier BV | Brain and Development
Produção Nacional
Revisado por pares
Gustavo Machado Badan, Décio Roveda Júnior, Carlos Alberto Pecci Ferreira, Felipe Augusto Trocoli Ferreira, Eduardo de Faria Castro Fleury, Mario Campos, Rodrigo de Oliveira Seleti, Hélio da Cruz Júnior,
Objective To evaluate the BI-RADS as a predictive factor of suspicion for malignancy in breast lesions by correlating radiological with histological results and calculating the positive predictive value for categories 3, 4 and 5 in a breast cancer reference center in the city of São Paulo. Materials and Methods Retrospective, analytical and cross-sectional study including 725 patients with mammographic and/or sonographic findings classified as BI-RADS categories 3, 4 and 5 who were referred to the ...
Tópico(s): AI in cancer detection
2013 - Colégio Brasileiro de Radiologia e Diagnóstico por Imagem | Radiologia Brasileira
Produção Nacional
Revisado por pares
Gabriella de Medeiros Abreu, Roberta Magalhães Tarantino, Pedro Hernán Cabello, Verônica Marques Zembrzuski, Ana Carolina Proença da Fonseca, Melanie Rodacki, Lenita Zajdenverg, Mário Campos,
Abstract Background MODY‐NEUROD1 is a rare form of monogenic diabetes caused by mutations in Neuronal differentiation 1 ( NEUROD1 ). Until now, only a few cases of MODY‐NEUROD1 have been reported worldwide and the real contribution of mutations in NEUROD1 in monogenic diabetes and its clinical impact remain unclear. Methods Genomic DNA was isolated from peripheral blood lymphocytes of 25 unrelated Brazilians patients with clinical characteristics suggestive of monogenic diabetes and the screening of ...
Tópico(s): Metabolism, Diabetes, and Cancer
2019 - Wiley | Molecular Genetics & Genomic Medicine
Produção Nacional
Revisado por pares
Ana Carolina Proença da Fonseca, Gabriella de Medeiros Abreu, Verônica Marques Zembrzuski, Mário Campos, João Régis Ivar Carneiro, Fernanda Cristina Carvalho Mattos Magno, Eliane Lopes Rosado, José Firmino Nogueira Neto, Giselda Maria Kalil de Cabello, Pedro Hernán Cabello,
Background: Melanocortin 4 receptor gene ( MC4R ) is an important regulator of food intake, body weight, and blood pressure. Mutations in MC4R are associated with the most common form of nonsyndromic monogenic obesity. MC4R variations have an autosomal co-/dominant model of inheritance. MC4R screening could reveal individuals previously unrecognized with Mendelian form of obesity for further clinical management and genetic counseling. However, there are limited data regarding MC4R variants in patients ...
Tópico(s): Pancreatic function and diabetes
2019 - Dove Medical Press | Diabetes Metabolic Syndrome and Obesity