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  1 / 2046 MEDLINE  
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[PMID]:28468226
[Au] Autor:Eom YS; Lim SY
[Ad] Endereço:Department of Plastic Surgery, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea.
[Ti] Título:Characteristics of Pediatric Cheek Mass.
[So] Source:J Craniofac Surg;28(3):e292-e295, 2017 May.
[Is] ISSN:1536-3732
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:PURPOSE: Patients with cheek mass are often referred to our medical center's department of plastic surgery. Most patients with deep cheek mass have the characteristic of a slowly growing, painless mass. We reviewed the lesion's pathology of this complex anatomic area in the pediatric population, focusing on differential diagnosis and the recent surgical strategies. METHODS: We retrospectively reviewed 56 patients visiting our department from 2009 to 2016. Data analysis included the patients' lesion characteristics, clinical presentation, presumptive diagnosis, results of preoperative investigations, pathological diagnosis, and treatment details. RESULTS: Patient age ranged from 1 day to 19 years (mean 7.81 years). The most common presentation was an asymptomatic, slowly enlarging mass. Preoperative diagnoses were made after clinical examination, and then the imaging study was performed. Surgical intervention was performed in 31 patients. The most common histopathological types were vascular anomalies. The next order of prevalence, from most prevalent to least, was lipomatosis, neurofibroma, and teratoma cases. CONCLUSION: As for our patients, various histopathological types of pediatric cheek mass were presented. Being suspicious of a rare disease and having a prudent diagnostic skill were important for a successful diagnosis. The primary treatment of these lesions is surgical excision with a meticulous surgical approach. In our patients, the prognosis of such treatment was good. This study provides a differential diagnosis of cheek mass in the pediatric population and signifies that the prevalence and types of cheek mass in pediatrics are different from those of the adult population.
[Mh] Termos MeSH primário: Bochecha
Lipomatose/diagnóstico
Neurofibroma/diagnóstico
Teratoma/diagnóstico
Malformações Vasculares/diagnóstico
[Mh] Termos MeSH secundário: Adolescente
Criança
Pré-Escolar
Diagnóstico Diferencial
Feminino
Seres Humanos
Lactente
Recém-Nascido
Lipomatose/cirurgia
Masculino
Neurofibroma/cirurgia
Estudos Retrospectivos
Teratoma/cirurgia
Malformações Vasculares/cirurgia
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180202
[Lr] Data última revisão:
180202
[Sb] Subgrupo de revista:D
[Da] Data de entrada para processamento:170505
[St] Status:MEDLINE
[do] DOI:10.1097/SCS.0000000000003547


  2 / 2046 MEDLINE  
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[PMID]:29192135
[Au] Autor:Özdogan S; Saymaz C; Yaltirik CK; Düzkalir HG; Kaya M; Demirel N; Düzkalir AH; Sarikaya B; Aktekin B
[Ad] Endereço:Department of Neurosurgery, Istanbul Training and Research Hospital, Istanbul, Turkey.
[Ti] Título:Encephalocraniocutaneous Lipomatosis: Haberland Syndrome.
[So] Source:Am J Case Rep;18:1271-1275, 2017 Dec 01.
[Is] ISSN:1941-5923
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:BACKGROUND Encephalocraniocutaneous lipomatosis (ECCL) was first announced as a new type of ectomesodermal dysgenesis in 1970 by Haberland and Perou. ECCL was first described in 1970, and approximately 60 cases have been reported since then. The classic triad of ECCL are skin, ocular, and central nervous system involvement, including conditions such as unilateral porencephalic cyst, ipsilateral lipomatous hamartoma of the scalp-eyelids-eye globe, cortical atrophy, cranial asymmetry, developmental delay, seizures, mental retardation, and spasticity of the contralateral limbs. The dermatological hallmark is a hairless fatty tissue nevus of the scalp called nevus psiloliparus. CASE REPORT An 11-year-old right-handed boy, born at full term, was referred to our clinic. His family had no consanguinity or history of neurocutaneous disease. The patient's physical examination revealed a large hairless lesion on the right frontoparietal scalp called nevus psiloliparus. Beginning from the birth, a dermolipoma (an uncommon benign tumor) was reported to have occurred on the conjunctiva, mostly ipsilateral in his right eye and present on the ipsilateral side of the neurological abnormalities shown on magnetic resonance imaging and computed tomography. The patient had muscle weakness in left upper and lower extremities. He had a mild form of mental retardation. CONCLUSIONS There is no specific treatment for ECCL. Management of ECCL is usually symptomatic. Surgical correction of a cutaneous lesion can be performed for cosmetic improvement. An early diagnosis of ECCL allows for early symptom treatment and improved patient quality of life.
[Mh] Termos MeSH primário: Oftalmopatias/diagnóstico
Lipomatose/diagnóstico
Síndromes Neurocutâneas/diagnóstico
[Mh] Termos MeSH secundário: Encéfalo/diagnóstico por imagem
Criança
Seres Humanos
Masculino
Síndrome
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1801
[Cu] Atualização por classe:180109
[Lr] Data última revisão:
180109
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171202
[St] Status:MEDLINE


  3 / 2046 MEDLINE  
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[PMID]:28509441
[Au] Autor:Delaporta P; Sofocleous C; Economou M; Makis A; Kostaridou S; Kattamis A
[Ad] Endereço:First Department of Pediatrics, National and Kapodistrian University of Athens, Athens, Greece.
[Ti] Título:The Greek Registry of Shwachman Diamond-Syndrome: Molecular and clinical data.
[So] Source:Pediatr Blood Cancer;64(11), 2017 Nov.
[Is] ISSN:1545-5017
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:This study presents the clinical phenotype and molecular analysis findings from 11 patients recorded in the Greek Shwachman-Diamond syndrome (SDS) Registry. The most severely affected patient in our registry was diagnosed at birth and is the first patient reported to require bone marrow transplantation so early in life. Severe psoriasis, a feature not previously reported in SDS, was observed in one patient. Mutations in the Shwachman-Bodian-Diamond syndrome gene (SBDS) were found in all patients. Cytogenetic analyses revealed clonal abnormalities, one novel, in two patients.
[Mh] Termos MeSH primário: Doenças da Medula Óssea/genética
Doenças da Medula Óssea/patologia
Insuficiência Pancreática Exócrina/genética
Insuficiência Pancreática Exócrina/patologia
Lipomatose/genética
Lipomatose/patologia
Mutação/genética
Proteínas/genética
Sistema de Registros/estatística & dados numéricos
[Mh] Termos MeSH secundário: Adolescente
Pré-Escolar
Feminino
Grécia
Seres Humanos
Lactente
Masculino
Fenótipo
Prognóstico
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Proteins); 0 (SBDS protein, human)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171031
[Lr] Data última revisão:
171031
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170517
[St] Status:MEDLINE
[do] DOI:10.1002/pbc.26630


  4 / 2046 MEDLINE  
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[PMID]:28211564
[Au] Autor:Wegman-Ostrosky T; Savage SA
[Ad] Endereço:Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.
[Ti] Título:The genomics of inherited bone marrow failure: from mechanism to the clinic.
[So] Source:Br J Haematol;177(4):526-542, 2017 May.
[Is] ISSN:1365-2141
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:The inherited bone marrow failure syndromes (IBMFS) typically present with significant cytopenias in at least one haematopoietic cell lineage that may progress to pancytopenia, and are associated with increased risk of cancer. Although the clinical features of the IBMFS are often diagnostic, variable disease penetrance and expressivity may result in diagnostic dilemmas. The discovery of the genetic aetiology of the IBMFS has been greatly facilitated by next-generation sequencing methods. This has advanced understanding of the underlying biology of the IBMFS and been essential in improving clinical management and genetic counselling for affected patients. Herein we review the clinical features, underlying biology, and new genomic discoveries in the IBMFS, including Fanconi anaemia, dyskeratosis congenita, Diamond Blackfan anaemia, Shwachman Diamond syndrome and some disorders of the myeloid and megakaryocytic lineages.
[Mh] Termos MeSH primário: Anemia Aplástica/genética
Doenças da Medula Óssea/genética
Genômica/métodos
Hemoglobinúria Paroxística/genética
[Mh] Termos MeSH secundário: Anemia Aplástica/diagnóstico
Anemia de Diamond-Blackfan/diagnóstico
Anemia de Diamond-Blackfan/genética
Transtornos Plaquetários/diagnóstico
Transtornos Plaquetários/genética
Doenças da Medula Óssea/diagnóstico
Distúrbios no Reparo do DNA/genética
Disceratose Congênita/diagnóstico
Disceratose Congênita/genética
Insuficiência Pancreática Exócrina/diagnóstico
Insuficiência Pancreática Exócrina/genética
Anemia de Fanconi/diagnóstico
Anemia de Fanconi/genética
Aconselhamento Genético
Hemoglobinúria Paroxística/diagnóstico
Seres Humanos
Lipomatose/diagnóstico
Lipomatose/genética
Neutropenia/congênito
Neutropenia/diagnóstico
Neutropenia/genética
Ribossomos/genética
Telômero/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Em] Mês de entrada:1707
[Cu] Atualização por classe:170731
[Lr] Data última revisão:
170731
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170218
[St] Status:MEDLINE
[do] DOI:10.1111/bjh.14535


  5 / 2046 MEDLINE  
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[PMID]:28195116
[Au] Autor:Bhagat P; Vaiphei K
[Ad] Endereço:Department of Histopathology, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
[Ti] Título:Pancreatic lipomatosis in a pregnant diabetic patient.
[So] Source:Indian J Pathol Microbiol;60(1):135-137, 2017 Jan-Mar.
[Is] ISSN:0974-5130
[Cp] País de publicação:India
[La] Idioma:eng
[Mh] Termos MeSH primário: Complicações do Diabetes
Lipomatose/diagnóstico
Lipomatose/patologia
Pâncreas/patologia
Pancreatopatias/diagnóstico
Pancreatopatias/patologia
Complicações na Gravidez
[Mh] Termos MeSH secundário: Adulto
Feminino
Histocitoquímica
Seres Humanos
Rim/patologia
Lipomatose/diagnóstico por imagem
Microscopia
Pancreatopatias/diagnóstico por imagem
Gravidez
Radiografia Abdominal
Tomografia Computadorizada por Raios X
[Pt] Tipo de publicação:CASE REPORTS; LETTER
[Em] Mês de entrada:1703
[Cu] Atualização por classe:170313
[Lr] Data última revisão:
170313
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170215
[St] Status:MEDLINE
[do] DOI:10.4103/0377-4929.200035


  6 / 2046 MEDLINE  
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[PMID]:28130858
[Au] Autor:Valli R; De Paoli E; Nacci L; Frattini A; Pasquali F; Maserati E
[Ad] Endereço:Human and Medical Genetics, Department of Clinical and Experimental Medicine, University of Insubria, Varese, Italy.
[Ti] Título:Novel recurrent chromosome anomalies in Shwachman-Diamond syndrome.
[So] Source:Pediatr Blood Cancer;64(8), 2017 Aug.
[Is] ISSN:1545-5017
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Two chromosome anomalies are frequent in the bone marrow (BM) of patients with Shwachman-Diamond syndrome (SDS): an isochromosome of the long arm of chromosome 7, i(7)(q10), and an interstitial deletion of the long arm of chromosome 20, del(20)(q). These anomalies are associated with a lower risk of developing myelodysplasia (MDS) and/or acute myeloid leukemia. The chromosome anomalies may be due to an SDS-specific karyotype instability, reflected also by anomalies that are not clonal, but found in single cells in the BM or in peripheral blood (PB). PROCEDURE: Starting in 1999, we have monitored the cytogenetic picture of a cohort of 91 Italian patients with SDS by all suitable cytogenetic and molecular methods. RESULTS: Here, we report clonal chromosome anomalies that are different from the aforementioned, as well as changes found in single cells in BM/PB of the same patients. CONCLUSIONS: Some of the newly recognized clonal anomalies in BM reported here are recurrent, especially unbalanced structural anomalies of chromosome 7, a further complex rearrangement of the del(20)(q) with duplicated and deleted portions, and an unbalanced translocation t(3;6), with partial trisomy of the long arm of chromosome 3 and partial monosomy of the long arm of chromosome 6. Firm conclusions on the possible prognostic relevance of these anomalies would require further study with larger patient cohorts, but our data are sufficient to suggest that these patients necessitate more frequent cytogenetic monitoring. The results on anomalies found in single cells confirm the presence of an SDS-specific karyotype instability.
[Mh] Termos MeSH primário: Doenças da Medula Óssea/genética
Aberrações Cromossômicas
Insuficiência Pancreática Exócrina/genética
Lipomatose/genética
[Mh] Termos MeSH secundário: Cariótipo Anormal
Adolescente
Adulto
Criança
Feminino
Seres Humanos
Hibridização in Situ Fluorescente
Lactente
Estudos Longitudinais
Masculino
Análise de Sequência com Séries de Oligonucleotídeos
Recidiva
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170914
[Lr] Data última revisão:
170914
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170129
[St] Status:MEDLINE
[do] DOI:10.1002/pbc.26454


  7 / 2046 MEDLINE  
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[PMID]:28117206
[Au] Autor:Zhang F; Chen Y
[Ad] Endereço:Department of Pediatric Dentistry, Peking University School and Hospital of Stomatology, National Engineering Laboratory for Digital and Material Technology of Stomatology, Beijing Key Laboratory of Digital Stomatology, Beijing, China.
[Ti] Título:Lipogranuloma after facial cosmetic procedures.
[So] Source:Oral Surg Oral Med Oral Pathol Oral Radiol;123(4):e123-e132, 2017 Apr.
[Is] ISSN:2212-4411
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: Lipogranuloma is a rare inflammatory reactive process in the dermis and subcutis. We present a summary of the 6 cases of lipogranuloma after facial cosmetic procedures. STUDY DESIGN: We performed a retrospective review including patient demographic data, clinical symptoms, appearance on computed tomography, treatment, pathology results, and history of facial cosmetic procedures. RESULTS: In most cases, the nodules were painless and showed no significant growth. Computed tomography revealed ill-defined swellings in the buccal fat pad with heterogeneous density. Histopathological examinations revealed numerous variable-sized empty microcysts surrounded by abundant lymphocytes and foamy macrophages, the characteristic features of lipogranuloma. On further questioning, all of the patients revealed that they had undergone some form of facial cosmetic procedure in the preceding months to years. Among the 6 cases, facial autologous fat injection may have been the main cause of lipogranuloma. CONCLUSION: Lipogranulomas can develop months to years after facial cosmetic procedures distant from the injection sites. A thorough understanding of the patient's medical history and the clinical and histopathologic characteristics of lipogranuloma are necessary to make a definite diagnosis and allow appropriate treatment.
[Mh] Termos MeSH primário: Face
Granuloma de Corpo Estranho/etiologia
Lipomatose/etiologia
[Mh] Termos MeSH secundário: Adulto
Técnicas Cosméticas/efeitos adversos
Feminino
Granuloma de Corpo Estranho/cirurgia
Seres Humanos
Lipomatose/cirurgia
Meia-Idade
Estudos Retrospectivos
Tomografia Computadorizada por Raios X
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171024
[Lr] Data última revisão:
171024
[Sb] Subgrupo de revista:D; IM
[Da] Data de entrada para processamento:170125
[St] Status:MEDLINE


  8 / 2046 MEDLINE  
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[PMID]:28057454
[Au] Autor:Serpa MS; Scully C; Molina Vivas AP; de Almeida OP; Costa FD; Alves FA
[Ad] Endereço:Department of Stomatology, A. C. Camargo Cancer Center, São Paulo, Brazil.
[Ti] Título:Infiltrating lipomatosis of the face: case series and literature review.
[So] Source:Oral Surg Oral Med Oral Pathol Oral Radiol;123(3):e99-e105, 2017 Mar.
[Is] ISSN:2212-4411
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Infiltrating lipomatosis of the face is a rare disorder in which mature adipocytes infiltrate tissues, leading to facial asymmetry. We present three cases, emphasizing their clinical and imaging features. In two of our cases, typical clinical features of infiltrating lipomatosis of the face were observed, including enlargement of cheek and bones, as well as early tooth eruption. The other case stood out because of its uncommon clinical presentation: presenting with hemimacroglossia, ipsilateral submandibular gland enlargement, and papillomatosis on the dorsum of the tongue. The presence of infiltrating adipose tissue is essential to confirm the diagnosis.
[Mh] Termos MeSH primário: Assimetria Facial/etiologia
Lipomatose/complicações
Lipomatose/diagnóstico por imagem
[Mh] Termos MeSH secundário: Adulto
Feminino
Seres Humanos
Lipomatose/cirurgia
Imagem por Ressonância Magnética
Tomografia Computadorizada por Raios X
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE; REVIEW
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171026
[Lr] Data última revisão:
171026
[Sb] Subgrupo de revista:D; IM
[Da] Data de entrada para processamento:170107
[St] Status:MEDLINE


  9 / 2046 MEDLINE  
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[PMID]:27884011
[Au] Autor:Djuric-Stefanovic A; Ebrahimi K; Sisevic J; Saranovic D
[Ad] Endereço:Department of Radiology, Faculty of Medicine, University of Belgrade, Belgrade, Serbia.
[Ti] Título:Gastroduodenal Lipomatosis in Familial Multiple Lipomatosis.
[So] Source:Med Princ Pract;26(2):189-191, 2017.
[Is] ISSN:1423-0151
[Cp] País de publicação:Switzerland
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: To present a case of gastroduodenal lipomatosis associated with familial multiple lipomatosis (FML). CLINICAL PRESENTATION AND INTERVENTION: A 58-year-old male presented with FML that manifested as multiple, painless, subcutaneous lipomas on his body; his mother had subcutaneous lipoma without a diagnosis of gastroduodenal lipomatosis. His lipid profile was normal. Abdominal computed tomography showed multiple, submucosal, polypoid lesions (of uniform density) of fat in the stomach and duodenum, and a small, similar lesion in the ileum. CONCLUSION: This case shows that gastrointestinal lipomatosis can manifest as FML.
[Mh] Termos MeSH primário: Lipomatose Múltipla Familiar/complicações
Gastroenteropatias/etiologia
[Mh] Termos MeSH secundário: Lipomatose Múltipla Familiar/diagnóstico por imagem
Lipomatose Múltipla Familiar/fisiopatologia
Gastroenteropatias/diagnóstico por imagem
Gastroenteropatias/fisiopatologia
Seres Humanos
Lipomatose/diagnóstico por imagem
Lipomatose/etiologia
Lipomatose/fisiopatologia
Masculino
Meia-Idade
Tomografia Computadorizada por Raios X
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171102
[Lr] Data última revisão:
171102
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161125
[St] Status:MEDLINE
[do] DOI:10.1159/000454714


  10 / 2046 MEDLINE  
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[PMID]:27882508
[Au] Autor:Al Mullahi AM; Bakathir A; Al Jahdhami S
[Ad] Endereço:Oral Health Department, Sultan Qaboos University Hospital, Muscat, Sultanate of Oman. mullahi.ama@gmail.com.
[Ti] Título:Regional early development and eruption of permanent teeth: case report.
[So] Source:Eur Arch Paediatr Dent;18(1):59-63, 2017 Feb.
[Is] ISSN:1996-9805
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Early development and eruption of permanent teeth are rarely reported in scientific literature. Early eruption of permanent teeth has been reported to occur due to local factors such as trauma or dental abscesses in primary teeth, and in systemic conditions. Congenital diffuse infiltrating facial lipomatosis (CDIFL) is a rare condition that belongs to a group of lipomatosis tumours. In this disorder, the mature adipocytes invade adjacent soft and hard tissues in the facial region. Accelerated tooth eruption is one of the dental anomalies associated with CDIFL. CASE REPORT: A 3-year-old boy presented with a swelling of the lower lip localised early development and eruption of permanent teeth and dental caries involving many primary teeth. TREATMENT: The planned treatment included biopsy of the swollen lower lip to confirm the diagnosis, surgical reduction and reconstruction of lip aesthetics. The management of the carious primary teeth included preventative and comprehensive dental care and extractions. These procedures were completed under general anaesthesia due to the child's young age and poor cooperation. The lip biopsy showed features of CDIFL such as the presence of infiltrating adipose tissue, prominent number of nerve bundles and thickened vessels. FOLLOW-UP: The high recurrence rate of CDIFL mandates long-term monitoring during the facial growth period of the child. Follow-up care by the paediatric dentist and maxillofacial surgeon has been required to manage all aspects of this congenital malformation. CONCLUSION: This rare disorder has many implications affecting child's facial aesthetics, psychological well being, developing occlusion and risk of dental caries. A multi-disciplinary approach is needed for management of this condition.
[Mh] Termos MeSH primário: Cárie Dentária/complicações
Dentição Permanente
Lipomatose/congênito
Erupção Dentária
[Mh] Termos MeSH secundário: Fatores Etários
Pré-Escolar
Cárie Dentária/diagnóstico por imagem
Seres Humanos
Lipomatose/complicações
Lipomatose/patologia
Masculino
Fotomicrografia
Radiografia Dentária
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171114
[Lr] Data última revisão:
171114
[Sb] Subgrupo de revista:D; IM
[Da] Data de entrada para processamento:161125
[St] Status:MEDLINE
[do] DOI:10.1007/s40368-016-0257-5



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