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  1 / 4643 MEDLINE  
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[PMID]:29192092
[Au] Autor:den Heijer M; Bakker A; Gooren L
[Ad] Endereço:Department of internal medicine, VU Medical Center, Amsterdam, Netherlands m.denheijer@vumc.nl.
[Ti] Título:Long term hormonal treatment for transgender people.
[So] Source:BMJ;359:j5027, 2017 11 30.
[Is] ISSN:1756-1833
[Cp] País de publicação:England
[La] Idioma:eng
[Mh] Termos MeSH primário: Terapia de Reposição Hormonal/efeitos adversos
Terapia de Reposição Hormonal/utilização
Policitemia/induzido quimicamente
Pessoas Transgênero/psicologia
Trombose Venosa/induzido quimicamente
[Mh] Termos MeSH secundário: Adulto
Assistência ao Convalescente
Idoso
Antagonistas de Androgênios/farmacologia
Estrogênios/administração & dosagem
Estrogênios/farmacologia
Feminino
Disforia de Gênero/psicologia
Guias como Assunto
Seres Humanos
Masculino
Policitemia/complicações
Fatores de Risco
Testosterona/administração & dosagem
Testosterona/farmacologia
Tempo
Trombose Venosa/complicações
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Androgen Antagonists); 0 (Estrogens); 3XMK78S47O (Testosterone)
[Em] Mês de entrada:1803
[Cu] Atualização por classe:180305
[Lr] Data última revisão:
180305
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:171202
[St] Status:MEDLINE
[do] DOI:10.1136/bmj.j5027


  2 / 4643 MEDLINE  
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[PMID]:28460542
[Au] Autor:Verbeek L; Slaghekke F; Sueters M; Middeldorp JM; Klumper FJ; Haak MC; Oepkes D; Lopriore E
[Ad] Endereço:a Division of Neonatology, Department of Pediatrics , Leiden University Medical Center , Leiden , The Netherlands.
[Ti] Título:Hematological disorders at birth in complicated monochorionic twins.
[So] Source:Expert Rev Hematol;10(6):525-532, 2017 06.
[Is] ISSN:1747-4094
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:INTRODUCTION: Monochorionic twins are at risk of severe complications including twin-twin transfusion syndrome (TTTS), twin anemia-polycythemia sequence (TAPS) and acute peripartum TTTS. The pathophysiology is based on inter-twin blood transfusion through placental vascular anastomoses. Areas covered: This review focuses on the incidence, management and outcome of neonatal hematological complications at birth in TTTS, TAPS and acute peripartum TTTS. Expert commentary: Hematological disorders are often present at birth in monochorionic twins and include acute or chronic anemia, polycythemia and thrombocytopenia. Routine measurement of complete blood counts in all complicated monochorionic twins is strongly recommended. Increased awareness on these disorders and correct diagnostic tests will lead to prompt and adequate management at birth.
[Mh] Termos MeSH primário: Transfusão Feto-Fetal
Policitemia
Gêmeos
[Mh] Termos MeSH secundário: Contagem de Células Sanguíneas
Feminino
Transfusão Feto-Fetal/sangue
Transfusão Feto-Fetal/etiologia
Transfusão Feto-Fetal/terapia
Seres Humanos
Recém-Nascido
Masculino
Placenta/anormalidades
Placenta/irrigação sanguínea
Policitemia/sangue
Policitemia/congênito
Policitemia/etiologia
Policitemia/terapia
Gravidez
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW; TWIN STUDY
[Em] Mês de entrada:1706
[Cu] Atualização por classe:180225
[Lr] Data última revisão:
180225
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170503
[St] Status:MEDLINE
[do] DOI:10.1080/17474086.2017.1324290


  3 / 4643 MEDLINE  
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[PMID]:27774607
[Au] Autor:Ke S; Chen S; Dong Z; Hong CS; Zhang Q; Tang L; Yang P; Zhai J; Yan H; Shen F; Zhuang Z; Wen W; Wang H
[Ad] Endereço:State Key Laboratory of Oncogenes and Related Genes, Shanghai Cancer Institute, Renji Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
[Ti] Título:Erythrocytosis in hepatocellular carcinoma portends poor prognosis by respiratory dysfunction secondary to mitochondrial DNA mutations.
[So] Source:Hepatology;65(1):134-151, 2017 01.
[Is] ISSN:1527-3350
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Erythrocytosis is a common paraneoplastic syndrome associated with hepatocellular carcinoma. Although increased erythropoietin (EPO) is found in these patients, the clinical significance and molecular mechanisms underlying this observation are unclear. We demonstrate an inverse relationship between EPO production and overall prognosis in our cohort of 664 patients as well as in data from The Cancer Genome Atlas. In the subset of hepatocellular carcinoma patients with erythrocytosis, we identified somatic mutations of mitochondrial DNA, resulting in impairment of respiratory metabolism, which sequentially led to depletion of α-ketoglutarate, stabilization of hypoxia inducible factor-α, and expression of target genes such as EPO. Cell lines and patient-derived xenograft models were used to demonstrate that EPO promoted cancer stem cell self-renewal and expansion in an autocrine/paracrine manner through enhanced Janus kinase/signal transducer and activator of transcription signaling both in vitro and in vivo. Furthermore, to explore the therapeutic targeting of EPO-induced tumor changes, we found that blocking EPO signaling with soluble EPO receptor extracellular domain Fc fusion protein could inhibit tumor growth both in vitro and in vivo. CONCLUSION: These findings suggest clinical and therapeutic implications for erythrocytosis in hepatocellular carcinoma. There is an underlying link between mitochondrial function and hypoxia inducible factor alpha signaling, revealing a mechanism of erythrocytosis in a subset of hepatocellular carcinoma patients who may benefit from treatment involving EPO signaling interference. (Hepatology 2017;65:134-151).
[Mh] Termos MeSH primário: Carcinoma Hepatocelular/complicações
Carcinoma Hepatocelular/genética
DNA Mitocondrial/genética
Neoplasias Hepáticas/complicações
Neoplasias Hepáticas/genética
Mutação
Síndromes Paraneoplásicas/etiologia
Policitemia/etiologia
[Mh] Termos MeSH secundário: Carcinoma Hepatocelular/fisiopatologia
Hipóxia Celular
Feminino
Seres Humanos
Neoplasias Hepáticas/fisiopatologia
Masculino
Doenças Mitocondriais/genética
Policitemia/fisiopatologia
Prognóstico
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (DNA, Mitochondrial)
[Em] Mês de entrada:1707
[Cu] Atualização por classe:180121
[Lr] Data última revisão:
180121
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161025
[St] Status:MEDLINE
[do] DOI:10.1002/hep.28889


  4 / 4643 MEDLINE  
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[PMID]:29298151
[Au] Autor:Atri D; Furfaro D; Dhaliwal G; Feingold KR; Manesh R
[Ad] Endereço:From the Department of Medicine, Johns Hopkins Hospital and Johns Hopkins University School of Medicine, Baltimore (D.A., D.F., R.M.); and the Department of Medicine, University of California, San Francisco, and the Medical Service, San Francisco Veterans Affairs Medical Center - both in San Francis
[Ti] Título:Going from A to Z.
[So] Source:N Engl J Med;378(1):73-79, 2018 01 04.
[Is] ISSN:1533-4406
[Cp] País de publicação:United States
[La] Idioma:eng
[Mh] Termos MeSH primário: Diarreia/etiologia
Gastrinoma/diagnóstico
Neoplasias Hepáticas/secundário
Fígado/diagnóstico por imagem
Neoplasias Primárias Desconhecidas/diagnóstico
Síndrome de Zollinger-Ellison/diagnóstico
[Mh] Termos MeSH secundário: Abdome/diagnóstico por imagem
Dor Abdominal/etiologia
Idoso
Análise Química do Sangue
Doença Crônica
Diagnóstico Diferencial
Gastrinoma/complicações
Gastrinoma/diagnóstico por imagem
Seres Humanos
Fígado/patologia
Neoplasias Hepáticas/diagnóstico
Neoplasias Hepáticas/patologia
Imagem por Ressonância Magnética
Masculino
Neoplasias Primárias Desconhecidas/complicações
Policitemia/complicações
Tomografia Computadorizada com Tomografia por Emissão de Pósitrons
Síndrome de Zollinger-Ellison/complicações
[Pt] Tipo de publicação:CASE REPORTS; CLINICAL CONFERENCE; JOURNAL ARTICLE
[Em] Mês de entrada:1801
[Cu] Atualização por classe:180118
[Lr] Data última revisão:
180118
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:180104
[St] Status:MEDLINE


  5 / 4643 MEDLINE  
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[PMID]:29100088
[Au] Autor:Crawford JE; Amaru R; Song J; Julian CG; Racimo F; Cheng JY; Guo X; Yao J; Ambale-Venkatesh B; Lima JA; Rotter JI; Stehlik J; Moore LG; Prchal JT; Nielsen R
[Ad] Endereço:Department of Integrative Biology, University of California, Berkeley, Berkeley, CA 94702, USA.
[Ti] Título:Natural Selection on Genes Related to Cardiovascular Health in High-Altitude Adapted Andeans.
[So] Source:Am J Hum Genet;101(5):752-767, 2017 Nov 02.
[Is] ISSN:1537-6605
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:The increase in red blood cell mass (polycythemia) due to the reduced oxygen availability (hypoxia) of residence at high altitude or other conditions is generally thought to be beneficial in terms of increasing tissue oxygen supply. However, the extreme polycythemia and accompanying increased mortality due to heart failure in chronic mountain sickness most likely reduces fitness. Tibetan highlanders have adapted to high altitude, possibly in part via the selection of genetic variants associated with reduced polycythemic response to hypoxia. In contrast, high-altitude-adapted Quechua- and Aymara-speaking inhabitants of the Andean Altiplano are not protected from high-altitude polycythemia in the same way, yet they exhibit other adaptive features for which the genetic underpinnings remain obscure. Here, we used whole-genome sequencing to scan high-altitude Andeans for signals of selection. The genes showing the strongest evidence of selection-including BRINP3, NOS2, and TBX5-are associated with cardiovascular development and function but are not in the response-to-hypoxia pathway. Using association mapping, we demonstrated that the haplotypes under selection are associated with phenotypic variations related to cardiovascular health. We hypothesize that selection in response to hypoxia in Andeans could have vascular effects and could serve to mitigate the deleterious effects of polycythemia rather than reduce polycythemia itself.
[Mh] Termos MeSH primário: Adaptação Fisiológica/genética
Doença da Altitude/genética
Sistema Cardiovascular/fisiopatologia
Seleção Genética/genética
[Mh] Termos MeSH secundário: Idoso
Idoso de 80 Anos ou mais
Altitude
Feminino
Estudo de Associação Genômica Ampla/métodos
Haplótipos/genética
Insuficiência Cardíaca/genética
Seres Humanos
Hipóxia/genética
Masculino
Meia-Idade
Policitemia/genética
Polimorfismo de Nucleotídeo Único/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171118
[Lr] Data última revisão:
171118
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171104
[St] Status:MEDLINE


  6 / 4643 MEDLINE  
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[PMID]:29038321
[Au] Autor:Cervi A; Balitsky AK
[Ad] Endereço:Department of Medicine, Divisions of Internal Medicine (Cervi) and Hematology (Balitsky), McMaster University, Hamilton, Ont. andrea.cervi@medportal.ca.
[Ti] Título:Testosterone use causing erythrocytosis.
[So] Source:CMAJ;189(41):E1286-E1288, 2017 10 16.
[Is] ISSN:1488-2329
[Cp] País de publicação:Canada
[La] Idioma:eng
[Mh] Termos MeSH primário: Androgênios/efeitos adversos
Policitemia/induzido quimicamente
Testosterona/efeitos adversos
[Mh] Termos MeSH secundário: Seres Humanos
Masculino
Meia-Idade
Policitemia/diagnóstico
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Androgens); 3XMK78S47O (Testosterone)
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171102
[Lr] Data última revisão:
171102
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:171018
[St] Status:MEDLINE
[do] DOI:10.1503/cmaj.170683


  7 / 4643 MEDLINE  
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[PMID]:28484264
[Au] Autor:Maslah N; Cassinat B; Verger E; Kiladjian JJ; Velazquez L
[Ad] Endereço:APHP, Laboratoire de Biologie Cellulaire, Hôpital Saint-Louis, Paris, France.
[Ti] Título:The role of LNK/SH2B3 genetic alterations in myeloproliferative neoplasms and other hematological disorders.
[So] Source:Leukemia;31(8):1661-1670, 2017 Aug.
[Is] ISSN:1476-5551
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Malignant hematological diseases are mainly because of the occurrence of molecular abnormalities leading to the deregulation of signaling pathways essential for precise cell behavior. High-resolution genome analysis using microarray and large-scale sequencing have helped identify several important acquired gene mutations that are responsible for such signaling deregulations across different hematological malignancies. In particular, the genetic landscape of classical myeloproliferative neoplasms (MPNs) has been in large part completed with the identification of driver mutations (targeting the cytokine receptor/Janus-activated kinase 2 (JAK2) pathway) that determine MPN phenotype, as well as additional mutations mainly affecting the regulation of gene expression (epigenetics or splicing regulators) and signaling. At present, most efforts concentrate in understanding how all these genetic alterations intertwine together to influence disease evolution and/or dictate clinical phenotype in order to use them to personalize diagnostic and clinical care. However, it is now evident that factors other than somatic mutations also play an important role in MPN disease initiation and progression, among which germline predisposition (single-nucleotide polymorphisms and haplotypes) may strongly influence the occurrence of MPNs. In this context, the LNK inhibitory adaptor protein encoded by the LNK/SH2B adaptor protein 3 (SH2B3) gene is the target of several genetic variations, acquired or inherited in MPNs, lymphoid leukemia and nonmalignant hematological diseases, underlying its importance in these pathological processes. As LNK adaptor is a key regulator of normal hematopoiesis, understanding the consequences of LNK variants on its protein functions and on driver or other mutations could be helpful to correlate genotype and phenotype of patients and to develop therapeutic strategies to target this molecule. In this review we summarize the current knowledge of LNK function in normal hematopoiesis, the different SH2B3 mutations reported to date and discuss how these genetic variations may influence the development of hematological malignancies.
[Mh] Termos MeSH primário: Doenças Hematológicas/genética
Mutação
Transtornos Mieloproliferativos/genética
Proteínas/genética
[Mh] Termos MeSH secundário: Animais
Neoplasias Hematológicas/genética
Seres Humanos
Janus Quinase 2/genética
Policitemia/genética
Proteínas/química
Proteínas/fisiologia
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (LNK protein, human); 0 (Proteins); EC 2.7.10.2 (Janus Kinase 2)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171009
[Lr] Data última revisão:
171009
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170510
[St] Status:MEDLINE
[do] DOI:10.1038/leu.2017.139


  8 / 4643 MEDLINE  
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[PMID]:28393779
[Au] Autor:Guevara JH; Zorrilla-Vaca A; Silva-Gordillo GC
[Ad] Endereço:Department of Anesthesiology, Hospital Universitario del Valle, Cali, Colombia.
[Ti] Título:The utility of preoperative level of erythrocytosis in the prediction of postoperative blood loss and 30-day mortality in patients with tetralogy of fallot.
[So] Source:Ann Card Anaesth;20(2):188-192, 2017 Apr-Jun.
[Is] ISSN:0974-5181
[Cp] País de publicação:India
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Postoperative major bleeding is a relatively common complication of patients undergoing corrective surgery of tetralogy of Fallot (TOF). Life-threatening blood losses can lead to aggressive transfusions or reoperation. Little is known about the risk factors associated with a bleeding tendency in TOF patients. This study aimed to establish predictive models for postoperative blood loss and mortality in TOF patients. METHODS: We conducted a retrospective observational study involving patients with TOF who were posted for corrective cardiac surgery in a single hospital between 2010 and 2015. Hospital records including sociodemographic, pre- and intra-operative characteristics were extracted. Postoperative blood loss (within 24 and 48 h) and 30-day mortality were the primary and secondary outcomes, respectively. Multivariate linear and logistic regression models were used to identify determinants of outcomes. RESULTS: A total of 60 patients were included in this study. The median age was 1 year (interquartile range = 0.62-5) and the male to female ratio of 1.7:1. Mean postoperative blood loss within 24 h was 283 ± 212 mL. In multivariate linear regression, preoperative hematocrit (ß = 6.63, P = 0.042) and duration of intraoperative oxygenator with CPB (ß = 5.16, P = 0.025) were significantly correlated with postoperative blood loss within 24 h. After adjusting for sociodemographic, intra- and post-operative characteristics, preoperative hematocrit (odds ratio [OR] = 1.10, 95% confidence interval [CI] = 1.01-1.21), and postoperative red blood cell transfusions (OR = 3.88, 95% CI = 1.16-12.9) showed statistically significant association with 30-day mortality. The area under the receiver operating characteristic curve of the multivariable model was 0.863. CONCLUSIONS: Preoperative levels of erythrocytosis appear to predict postoperative blood loss and short-term mortality in TOF patients undergoing corrective surgery.
[Mh] Termos MeSH primário: Policitemia/mortalidade
Hemorragia Pós-Operatória/mortalidade
Cuidados Pré-Operatórios/métodos
Tetralogia de Fallot/mortalidade
Tetralogia de Fallot/cirurgia
[Mh] Termos MeSH secundário: Pré-Escolar
Comorbidade
Feminino
Seres Humanos
Lactente
Masculino
Policitemia/sangue
Valor Preditivo dos Testes
Estudos Retrospectivos
Medição de Risco
Fatores de Risco
[Pt] Tipo de publicação:JOURNAL ARTICLE; OBSERVATIONAL STUDY
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171102
[Lr] Data última revisão:
171102
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170411
[St] Status:MEDLINE
[do] DOI:10.4103/aca.ACA_25_17


  9 / 4643 MEDLINE  
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[PMID]:28355685
[Au] Autor:Wang XJ; Li LY; Wei Y; Zhao YY; Yuan PB
[Ad] Endereço:Department of Obstetrics and Gynecology, Peking University Third Hospital, Beijing 100191, China.
[Ti] Título:[Clinical outcome and placenta characteristics of spontaneous twin anemia-polycythemia sequence].
[So] Source:Zhonghua Fu Chan Ke Za Zhi;52(3):153-158, 2017 Mar 25.
[Is] ISSN:0529-567X
[Cp] País de publicação:China
[La] Idioma:chi
[Ab] Resumo:To investigate the clinical outcome and placental characteristics of spontaneous twin anemia-polycythemia sequence (sTAPS). Twelve cases with sTAPS delivered in Peking University Third Hospital from May 2013 to August 2016. The data of ultrasound characteristics, gestational age at delivery, and 1 minute Apgar score were analyzed, retrospectively. Placental superficial vascular anastomoses, placental territory discordance and the ratio of umbilical cords insertion distance to the longest placental diameter were also analyzed. (1) Only 1 case of sTAPS was diagnosed prenatally, the others were diagnosed postnatally because the fetal middle cerebral artery(MCA) doppler was not measured regularly. Five cases were complicated with selective intrauterine growth restriction (sIUGR). The median gestational age at delivery was 32.8 weeks (31-37 weeks) . The pregnancies were terminated because 3 cases were sIUGR type â… , 1 case was sIUGR type â…¡, 1 case was sIUGR type â…¢, 2 cases were fetal distress, 2 cases were severe pre-eclampsia, 2 cases were premature rupture of membrane, 1 case was fetal hydrops with abnormal doppler waveforms of ductus venouses. (2) When 5 sIUGR cases were excluded, there was no difference between the twins in birth weight [1 797 g (940-2 620 g) , 1 648 g (980-2 500 g) ; P=0.688]. The hemoglobin (Hb) level in all donor was significantly lower than recipient (P=0.000) and the inter-twin Hb difference was 147.6 g/L (84.0-216.0 g/L). While the reticulocyte percentage in donor was significantly higher than recipient (P=0.013) and reticulocyte percentage ratio was 3.60 (1.04-7.50). Five donor newborns had neonatal asphyxia, including 1 severe asphyxia, while no asphyxia happened in the recipient twins. (3) Arterio-arterial (A-A) anastomoses, veno-venous (V-V) anastomoses, arterio-venous (A-V) anastomoses were found in 3, 1 and 11 placentas, respectively. The total number of anastomoses was 2 (1-5) and the total diameter was 1.1 mm (0.4-2.1 mm), including 0 (0-1) A-A anastomoses with 0.2 mm (0.0-0.9 mm) in diameter and 2 (0-5) A-V anastomoses with 0.7 mm (0.0-2.1 mm) in diameter. The placental territory discordance was 0.17 (0.02-0.40) and the ratio of umbilical cords insertion to the longest placental diameter was 0.82 (0.34-0.99). The pathogenesis of sTAPS might result from slow and chronic blood transfusion from donor to recipient through a few minuscule vascular anastomoses in the placenta. In all monochorionic twins, especially sIUGR cases, MCA doppler should be monitored closely in the second and third trimester, in order to diagnose and manage sTAPS in time.
[Mh] Termos MeSH primário: Transfusão Feto-Fetal/patologia
Placenta/patologia
Policitemia/patologia
Gêmeos Monozigóticos
[Mh] Termos MeSH secundário: Peso ao Nascer
Feminino
Retardo do Crescimento Fetal
Idade Gestacional
Seres Humanos
Recém-Nascido
Placenta/irrigação sanguínea
Pré-Eclâmpsia
Gravidez
Terceiro Trimestre da Gravidez
Estudos Retrospectivos
Gêmeos
Cordão Umbilical
[Pt] Tipo de publicação:JOURNAL ARTICLE; TWIN STUDY
[Em] Mês de entrada:1706
[Cu] Atualização por classe:170630
[Lr] Data última revisão:
170630
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170330
[St] Status:MEDLINE
[do] DOI:10.3760/cma.j.issn.0529-567X.2017.03.003


  10 / 4643 MEDLINE  
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[PMID]:28336782
[Au] Autor:Janssen I; Chen CC; Zhuang Z; Millo CM; Wolf KI; Ling A; Lin FI; Adams KT; Herscovitch P; Feelders RA; Fojo AT; Taieb D; Kebebew E; Pacak K
[Ad] Endereço:Section on Medical Neuroendocrinology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland.
[Ti] Título:Functional Imaging Signature of Patients Presenting with Polycythemia/Paraganglioma Syndromes.
[So] Source:J Nucl Med;58(8):1236-1242, 2017 Aug.
[Is] ISSN:1535-5667
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Pheochromocytoma/paraganglioma (PPGL) syndromes associated with polycythemia have previously been described in association with mutations in the von Hippel-Lindau gene. Recently, mutations in the prolyl hydroxylase gene ( ) 1 and 2 and in the hypoxia-inducible factor 2 α ( ) were also found to be associated with multiple and recurrent PPGL. Such patients also presented with PPGL and polycythemia, and later on, some presented with duodenal somatostatinoma. In additional patients presenting with PPGL and polycythemia, no further mutations have been discovered. Because the functional imaging signature of patients with PPGL-polycythemia syndromes is still unknown, and because these tumors (in most patients) are multiple, recurrent, and metastatic, the goal of our study was to assess the optimal imaging approach using 4 different PET radiopharmaceuticals and CT/MRI in these patients. Fourteen patients (10 women, 4 men) with confirmed PPGL and polycythemia prospectively underwent Ga-DOTATATE (13 patients), F-FDG (13 patients), F-fluorodihydroxyphenylalanine ( F-FDOPA) (14 patients), F-fluorodopamine ( F-FDA) (11 patients), and CT/MRI (14 patients). Detection rates of PPGL lesions were compared between all imaging studies and stratified between the underlying mutations. F-FDOPA and F-FDA PET/CT showed similar combined lesion-based detection rates of 98.7% (95% confidence interval [CI], 92.7%-99.8%) and 98.3% (95% CI, 90.9%-99.7%), respectively. The detection rates for Ga-DOTATATE (35.3%; 95% CI, 25.0%-47.2%), F-FDG (42.3; 95% CI, 29.9%-55.8%), and CT/MRI (60.3%; 95% CI, 48.8%-70.7%) were significantly lower ( < 0.01), irrespective of the mutation status. F-FDOPA and F-FDA are superior to F-FDG, Ga-DOTATATE, and CT/MRI and should be the radiopharmaceuticals of choice in this rare group of patients.
[Mh] Termos MeSH primário: Imagem Multimodal
Paraganglioma/complicações
Policitemia/complicações
Policitemia/diagnóstico
[Mh] Termos MeSH secundário: Adolescente
Adulto
Criança
Feminino
Seres Humanos
Masculino
Meia-Idade
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170825
[Lr] Data última revisão:
170825
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170325
[St] Status:MEDLINE
[do] DOI:10.2967/jnumed.116.187690



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