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1.
Nat Commun ; 8(1): 1893, 2017 12 01.
Artigo em Inglês | MEDLINE | ID: mdl-29196615

RESUMO

Multiple myeloma is a plasma cell malignancy characterized by recurrent IgH translocations and well described genomic heterogeneity. Although transcriptome profiles in multiple myeloma has been described, landscape of expressed fusion genes and their clinical impact remains unknown. To provide a comprehensive and detailed fusion gene cartography and suggest new mechanisms of tumorigenesis in multiple myeloma, we performed RNA sequencing in a cohort of 255 newly diagnosed and homogeneously treated multiple myeloma patients with long follow-up. Here, we report that patients have on average 5.5 expressed fusion genes. Kappa and lambda light chains and IgH genes are main partners in a third of all fusion genes. We also identify recurrent fusion genes that significantly impact both progression-free and overall survival and may act as drivers of the disease. Lastly, we find a correlation between the number of fusions, the age of patients and the clinical outcome, strongly suggesting that genomic instability drives prognosis of the disease.


Assuntos
Fusão Gênica , Mieloma Múltiplo/genética , Idoso , Feminino , Humanos , Cadeias Pesadas de Imunoglobulinas/genética , Cadeias kappa de Imunoglobulina/genética , Cadeias lambda de Imunoglobulina/genética , Masculino , Pessoa de Meia-Idade , Análise de Sequência de RNA , Translocação Genética
2.
J Hepatol ; 21(3): 347-52, 1994 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-7836703

RESUMO

Prolactin is known to have renal sodium retention properties in animals. In man, only two studies have suggested a similar effect in healthy volunteers or in patients with microprolactinoma. Since hyperprolactinemia is frequently observed in liver disease, this prospective study of 19 patients evaluated the influence of prolactin on urinary electrolytes excretion in cirrhosis. Basal hyperprolactinemia was found in 14 out of 19 cases. The effect of serum prolactin elevation on renal sodium and potassium excretion was studied in all patients after thyrotropin-releasing hormone stimulation (200 micrograms), with seven consecutive hourly urinary samples. Patients were separated into two groups according to amount of prolactin discharge after thyrotropin-releasing hormone injection. Group I included patients with "low prolactin release", defined as the difference between basal and peak prolactin values (delta prolactin) < 1000 mu u/ml (n = 8), and no change in natriuresis could be observed. In contrast, in group II with a "high PRL release" (delta prolactin > 1000 mu u/ml, n = 11), significant reductions in urinary sodium (p < 0.01) and potassium (p < 0.02) excretion were observed, which lasted until the third hour after thyrotropin-releasing hormone injection. A significant correlation was found between peak prolactin values and the decrements of natriuresis (r = 0.70, p < 0.02). The pattern of urinary electrolyte changes and the stability of the ratio UK/UK+Na suggest a possible sodium-retaining effect of prolactin localized proximally to the distal tubule.


Assuntos
Hiperprolactinemia/complicações , Cirrose Hepática/metabolismo , Prolactina/fisiologia , Equilíbrio Hidroeletrolítico/fisiologia , Desequilíbrio Hidroeletrolítico/etiologia , Adulto , Idoso , Creatinina/sangue , Creatinina/urina , Feminino , Humanos , Hiperprolactinemia/epidemiologia , Incidência , Rim/efeitos dos fármacos , Rim/metabolismo , Rim/fisiologia , Fígado/efeitos dos fármacos , Fígado/metabolismo , Fígado/fisiologia , Cirrose Hepática/complicações , Masculino , Pessoa de Meia-Idade , Natriurese/efeitos dos fármacos , Potássio/sangue , Potássio/urina , Prolactina/sangue , Sódio/sangue , Sódio/urina , Espironolactona/farmacologia , Hormônio Liberador de Tireotropina/farmacologia , Equilíbrio Hidroeletrolítico/efeitos dos fármacos
3.
Ann Chir ; 48(2): 194-6, 1994.
Artigo em Francês | MEDLINE | ID: mdl-8192413

RESUMO

To evaluate the efficacy of fibrin glue for lymphostasis during axillary and inguinal lymph node removal, we conducted a prospective randomized study including 40 patients. Post-operative mortality and morbidity rates were not different throughout the 2 groups. However they were significant decreasement in drainage duration, in drainage quantity and in hospital duration in the group "with" fibrin when compared with the group "without".


Assuntos
Adenocarcinoma/cirurgia , Neoplasias da Mama/cirurgia , Adesivo Tecidual de Fibrina/uso terapêutico , Excisão de Linfonodo/métodos , Linfoma não Hodgkin/cirurgia , Adulto , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos
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