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1.
J Hypertens ; 38(2): 340-346, 2020 02.
Artigo em Inglês | MEDLINE | ID: mdl-31568062

RESUMO

BACKGROUND: Mutations of genes related to Krebs cycle enzymes, kinases or to pseudohypoxic signaling pathways, including Von-Hippel-Lindau (VHL) and transmembrane-protein-127 predispose to pheochromocytoma and paraganglioma development. Homozygous loss of function mutation of VHL (VHL 598C>T) gene can associate with polycythemia because of an altered hypoxia sensing. PATIENT: A 19-year-old normotensive man presented with headache, fatigue associated with severe erythrocytosis (hematocrit 76%), high hemoglobin (25.3 g/dl) in normoxic condition. Bone marrow biopsy showed marked hyperplasia of erythroid series. The Janus kinase 2 (V617F) mutation was absent. Abdominal computed tomography scan showed a 8-mm left adrenal pheochromocytoma with tracer uptake on GaDOTA-octreotate PET. Twenty-four-hour urinary metanephrine excretion was slightly increased, while normetanephrine, 3-methoxytyramine were normal. Adrenal veins sampling showed high left-side erythropoietin secretion. RESULTS: Next-generation sequencing genetic analysis evidenced two concurrent heterozygous mutation of VHL598C>T and of transmembrane-protein-127 c.268G>A. Left side adrenalectomy improved symptoms, erythrocytosis, hemoglobin, and erythropoietin circulating levels. Adrenal histologic sections showed a pheochromocytoma with extensive immunostaining for erythropoietin, but also coexpression of chromogranin A, a marker of chromaffin tissue. CONCLUSION: Congenital polycythemia was clinically diagnosed, mimicking Chuvash polycythemia. Chuvash polycythemia is an autosomal recessive disorder that usually harbors a homozygous mutation of VHL598C>T but not predispose to pheochromocytoma development; in contrast our patient showed for the first time that the concurrent heterozygous VHL and TMEM mutations, resulted in a clinical phenotype of a normotensive patient with polycythemia due to erythropoietin-secreting pheochromocytoma that improved after adrenalectomy.


Assuntos
Neoplasias das Glândulas Suprarrenais/genética , Eritropoetina/metabolismo , Heterozigoto , Mutação , Feocromocitoma/genética , Policitemia/genética , Proteína Supressora de Tumor Von Hippel-Lindau/genética , Neoplasias das Glândulas Suprarrenais/complicações , Genótipo , Humanos , Masculino , Fenótipo , Feocromocitoma/complicações , Policitemia/complicações , Adulto Jovem
2.
J Pediatr Oncol Nurs ; 35(4): 235-246, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-29589818

RESUMO

Parents of children newly diagnosed with cancer must acquire new knowledge and skills in order to safely care for their child at home. Institutional variation exists in the methods and content used by nurses in providing the initial education. The goal of this project was to develop a checklist, standardized across institutions, to guide nursing education provided to parents of children newly diagnosed with cancer. A team of 21 members (19 nurses and 2 parent advocates) used current hospital educational checklists, expert consensus recommendations, and a series of iterative activities and discussions to develop one standardized checklist. The final checklist specifies primary topics that are essential to teach prior to the initial hospital discharge, secondary topics that should be discussed within the first month after the cancer diagnosis, and tertiary topics that should be discussed prior to completion of therapy. This checklist is designed to guide education and will set the stage for future studies to identify effective teaching strategies that optimize the educational process for parents of children newly diagnosed with cancer.


Assuntos
Enfermagem Baseada em Evidências/educação , Assistência Domiciliar/educação , Oncologia/educação , Neoplasias/enfermagem , Pais/educação , Pediatria/educação , Adolescente , Adulto , Lista de Checagem , Criança , Pré-Escolar , Crianças com Deficiência , Enfermagem Baseada em Evidências/métodos , Feminino , Assistência Domiciliar/métodos , Humanos , Lactente , Recém-Nascido , Masculino , Oncologia/métodos , Pessoa de Meia-Idade , Pediatria/métodos
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