Artigos e Materiais de Revistas Científicas - LIM/36

Artigos e Materiais de Revistas Científicas - LIM/36

 

A coleção de Artigos e Materiais de Revistas Científicas engloba artigos originais, artigos de revisão, artigos de atualização, artigos técnicos, relatos de experiências, resenhas, ensaios, editoriais, cartas ao editor, debates, notas científicas e técnicas, depoimentos, entrevistas e pontos de vista. Consideram-se como artigos científicos originais os trabalhos redigidos para divulgação de informações e resultados sobre determinada pesquisa científica, publicados em periódico científico após avaliação por outros pesquisadores.

Recent Submissions

  • LEITE, Giuseppe Gianini Figueiredo; AZEVEDO, Hatylas; OLIVEIRA, Talita Mendes de; FURTADO, Danielle Zildeana Sousa; ASSUNCAO, Nilson Antonio (ELSEVIER SCIENCE BV, AMSTERDAM, NETHERLANDS, 2018)
    Cri-du-Chat Syndrome (CDCS) is a rare genetic disorder caused by the partial deletion of the chromosome 5 short arm (5p-) that results in morpho-physiological abnormalities. This study reports a network view of the genes ...
  • HSIA, Gabriella S. P.; MUSSO, Camila M.; ALVIZI, Lucas; BRITO, Luciano A.; KOBAYASHI, Gerson S.; PAVANELLO, Rita C. M.; ZATZ, Mayana; GARDHAM, Alice; WAKELING, Emma; ZECHI-CEIDE, Roseli M.; BERTOLA, Debora; PASSOS-BUENO, Maria Rita (FRONTIERS MEDIA SA, LAUSANNE, SWITZERLAND, 2018)
    Repeats in coding and non- coding regions have increasingly been associated with many human genetic disorders, such as Richieri-Costa-Pereira syndrome (RCPS). RCPS, mostly characterized by midline cleft mandible, Robin ...
  • LEAL, Gabriela Ferraz; NISHIMURA, Gen; VOSS, Ulrika; BERTOLA, Debora Romeo; ASTROM, Eva; SVENSSON, Johan; YAMAMOTO, Guilherme Lopes; HAMMARSJO, Anna; HOREMUZOVA, Eva; PAPADIOGANNAKIS, Nikos; IWARSSON, Erik; GRIGELIONIENE, Giedre; THAM, Emma (WILEY, HOBOKEN, USA, 2018)
    Osteogenesis imperfecta (OI) is a strikingly heterogeneous group of disorders with a broad range of phenotypic variations. It is also one of the differential diagnoses in bent bone dysplasias along with campomelic dysplasia ...
  • BUSCATTI, Izabel M.; CASELLA, Beatriz B.; AIKAWA, Nadia E.; WATANABE, Andrea; FARHAT, Sylvia C. L.; CAMPOS, Lucia M. A.; SILVA, Clovis Artur (SPRINGER LONDON LTD, LONDON, ENGLAND, 2018)
    The objective of this study was to evaluate prevalence, initial risk factors, and outcomes in Henoch-Schonlein purpura nephritis (HSPN) patients in Latin America. Two hundred ninety-six patients (validated EULAR/PRINTO/PRES ...
  • CLEMENTE, Gleice; SILVA, Clovis A.; SACCHETTI, Silvana B.; FERRIANI, Virginia P. L.; OLIVEIRA, Sheila K.; SZTAJNBOK, Flavio; BICA, Blanca E. R. G.; CAVALCANTI, Andre; ROBAZZI, Teresa; BANDEIRA, Marcia; TERRERI, Maria Teresa (SPRINGER HEIDELBERG, HEIDELBERG, GERMANY, 2018)
    Juvenile-Takayasu arteritis (j-TA) is a difficult diagnosis and some patients develop uncommon manifestations and associated diseases that may contribute to the delayed diagnosis. Our aim was to identify the misdiagnoses, ...
  • LOPES, Marcos Thomazin; KOCH, Vera Hermina; SARRUBBI-JUNIOR, Vicente; GALLO, Paulo Rogerio; CARNEIRO-SAMPAIO, Magda (HOSPITAL CLINICAS, UNIV SAO PAULO, SAO PAULO, BRAZIL, 2018)
    OBJECTIVES: The aim of this study is to present a survey of vulnerabilities and to suggest approaches for the treatment of rare diseases according to the perceptions of a group of affected individuals, patient association ...
  • CERONI, Jose R. M.; YAMAMOTO, Guilherme L.; HONJO, Rachel S.; KIM, Chong A.; PASSOS-BUENO, Maria R.; BERTOLA, Debora R. (SOC BRASIL GENETICA, RIBEIRAO PRET, BRAZIL, 2018)
    CHIME syndrome is an extremely rare autosomal recessive multisystemic disorder caused by mutations in PIGL. PIGL is an endoplasmic reticulum localized enzyme that catalyzes the second step of glycosylphosphatidylinositol ...
  • BUSCATTI, Izabel M.; CASELLA, Beatriz B.; AIKAWA, Nadia E.; WATANABE, Andrea; FARHAT, Sylvia C. L.; CAMPOS, Lucia M. A.; SILVA, Clovis Artur (SPRINGER LONDON LTD, LONDON, ENGLAND, 2018)
    One of the author's name on this article was incorrectly spelled as ""Sylvia C. L. Fahrat"" . The correct spelling is ""Sylvia C. L. Farhat"" and is now presented correctly in this article. The original article has been corrected.
  • MIYADAHIRA, Mariana Yumi; BRIZOT, Maria de Lourdes; CARVALHO, Mario Henrique Burlacchini de; BIANCOLIN, Sckarlet Ernandes; MACHADO, Rita de Cassia Alam; KREBS, Vera Lucia Jornada; FRANCISCO, Rossana Pulcineli Vieira; PERALTA, Cleisson Fabio Andrioli (HOSPITAL CLINICAS, UNIV SAO PAULO, SAO PAULO, BRAZIL, 2018)
    OBJECTIVES: To describe the perinatal outcomes of type II and III selective fetal growth restriction (sFGR) in monochorionic-diamniotic (MCDA) twin pregnancies treated with expectant management or laser ablation of placental ...
  • FERNANDES, Juliana Folloni; BONFIM, Carmem; KERBAUY, Fabio Rodrigues; RODRIGUES, Morgani; ESTEVES, Iracema; SILVA, Nathalia Halley; AZAMBUJA, Alessandra Prandini; MANTOVANI, Luiz Fernando; KUTNER, Jose Mauro; LOTH, Gisele; KUWAHARA, Cilmara Cristina; BUENO, Clarissa; KONDO, Andrea Tiemi; RIBEIRO, Andreza Alice Feitosa; KOK, Fernando; HAMERSCHLAK, Nelson (NATURE PUBLISHING GROUP, LONDON, ENGLAND, 2018)
    Allogeneic hematopoietic stem cell transplantation (HSCT) is the only treatment that enhances survival and stabilizes neurologic symptoms in X-linked adrenoleukodystrophy (X-ALD) with cerebral involvement, a severe ...
  • HONJO, R. S.; MELLO, C. B.; PIMENTA, L. S. E.; NUNES-VACA, E. C.; BENEDETTO, L. M.; KHOURY, R. B. F.; BEFI-LOPES, D. M.; KIM, C. A. (WILEY, HOBOKEN, USA, 2018)
    BackgroundCri du Chat syndrome (CdCS) is a genetic syndrome caused by deletions in the short arm of chromosome 5. Although the main clinical features of CdCS are well known, the neurocognitive and behavioural characteristics ...
  • SAKANO, Eulalia; SARINHO, Emanuel S. C.; CRUZ, Alvaro A.; PASTORINO, Antonio C.; TAMASHIRO, Edwin; KUSCHNIR, Fabio; CASTRO, Fabio F. M.; ROMANO, Fabrizio R.; WANDALSEN, Gustavo F.; CHONG-NETO, Herberto J.; MELLO JR., Joao F. de; SILVA, Luciana R.; RIZZO, Maria Candida; MIYAKE, Monica A. M.; ROSARIO FILHO, Nelson A.; RUBINI, Norma de Paula M.; MION, Olavo; CAMARGOS, Paulo A.; ROITHMANN, Renato; GODINHO, Ricardo N.; PIGNATARI, Shirley Shizue N.; SIH, Tania; ANSELMO-LIMA, Wilma T.; SOLE, Dirceu (ASSOC BRASILEIRA OTORRINOLARINGOLOGIA & CIRURGIA CERVICOFACIAL, SAO PAULO, BRAZIL, 2018)
    Introduction: The guidelines on allergic rhinitis aim to update knowledge about the disease and care for affected patients. The initiative called ""Allergic Rhinitis and its Impact on Asthma"", initially published in 2001 ...
  • COLLETI JUNIOR, José; KOGA, Walter; CARVALHO, Werther Brunow de (Sociedade de Pediatria de São Paulo, 2017)
    ABSTRACT Objective: To report a rare case of dorsal brainstem syndrome in an infant after hypoxic-ischemic episode due to severe sepsis and the use of neurally adjusted ventilatory assist (NAVA) to aid in diagnosis and in ...
  • LO, Denise Swei; RODRIGUES, Larissa; KOCH, Vera Hermina Kalika; GILIO, Alfredo Elias (Sociedade Brasileira de Nefrologia, 2018)
    ABSTRACT Introduction: Urinary tract infection (UTI) is the most common serious bacterial infection in young infants. Signs and symptoms are often nonspecific. Objectives: To describe clinical, demographic and laboratory ...
  • YBARRA, Marina; FRANCO, Ruth Rocha; COMINATO, Louise; SAMPAIO, Raissa Beltrao; ROCHA, Silvia Maria Sucena da; DAMIANI, Durval (TAYLOR & FRANCIS LTD, ABINGDON, ENGLAND, 2018)
    Background and aims: In adolescence and obesity, the pathophysiology of polycystic ovary syndrome (PCOS) is very difficult to distinguish. We aimed to assess the diagnosis of PCOS in the population of obese adolescent. ...
  • ADDE, Fabiola Villac; CAMPOS, Silvia Vidal; TEIXEIRA, Ricardo Henrique de Oliveira Braga; RODRIGUES, Joaquim Carlos (ELSEVIER SCI LTD, OXFORD, ENGLAND, 2018)
    The current available literature evaluating lung resection surgery and lung transplantation in children with cystic fibrosis (CF) was reviewed through a PubMed search and references from selected studies were additionally ...
  • HOMMA, Thais K.; KREPISCHI, Ana C. V.; FURUYA, Tatiane K.; HONJO, Rachel S.; MALAQUIAS, Alexsandra C.; BERTOLA, Debora R.; COSTA, Silvia S.; CANTON, Ana P.; ROELA, Rosimeire A.; FREIRE, Bruna L.; KIM, Chong A.; ROSENBERG, Carla; JORGE, Alexander A. L. (KARGER, BASEL, SWITZERLAND, 2018)
    Background/Aims: Genetic imbalances are responsible for many cases of short stature of unknown etiology. This study aims to identify recurrent pathogenic copy number variants (CNVs) in patients with syndromic short stature ...
  • SALVUCCI, Isadora Darriba Macedo; FINZI, Simone; OYAMADA, Maria Kiyoko; KIM, Chong Ae; PIMENTEL, Sergio Luis Gianotti (TAYLOR & FRANCIS INC, PHILADELPHIA, USA, 2018)
    Introduction: We report a case of retinal and posterior ocular findings in a 33-year-old man diagnosed with Hunter syndrome (Mucopolysaccharidosis type II) in a multimodal imaging way. Case presentation: Our patient was ...
  • BERMUDES, Ana Carolina G.; CARVALHO, Werther B. de; ZAMBERLAN, Patricia; MURAMOTO, Giovana; MARANHAO, Raul C.; DELGADO, Artur F. (ELSEVIER SCIENCE INC, NEW YORK, USA, 2018)
    Objectives: Limited knowledge exists regarding the lipid profiles of critically ill pediatric patients with systemic inflammatory response syndrome. The aim of this study was to evaluate the relationship between the intensity ...
  • CONDE, Paola G.; FARHAT, Luis C.; BRAGA, Alfesio L. F.; SALLUM, Adriana E. M.; FARHAT, Sylvia C. L.; SILVA, Clovis A. (TAYLOR & FRANCIS LTD, ABINGDON, ENGLAND, 2018)
    Objective: The objective of this study is to evaluate the influence of exposure to air pollutants and inhalable environmental elements during pregnancy and after birth until childhood-onset systemic lupus erythematosus(cSLE) ...

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