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[PMID]:29390296
[Au] Autor:Liu Q; Tong D; Liu G; Yi Y; Zhang D; Zhang J; Zhang Y; Huang Z; Li Y; Chen R; Guan Y; Yi X; Jiang J
[Ad] Endereço:Department of Urology, Institute of Surgery Research, Daping Hospital, Third Military Medical University, Chongqing.
[Ti] Título:Carney complex with PRKAR1A gene mutation: A case report and literature review.
[So] Source:Medicine (Baltimore);96(50):e8999, 2017 Dec.
[Is] ISSN:1536-5964
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:RATIONALE: Carney complex (CNC) is a multiple neoplasia syndrome with autosomal dominant inheritance. CNC is characterized by the presence of myxomas, spotty skin pigmentation, and endocrine overactivity. No direct correlation has been established between disease-causing mutations and phenotype. PATIENT CONCERNS: A 16-year-old boy was admitted because of excessive weight gain over 3 years and purple striae for 1 year. Physical examination revealed Cushingoid features and spotty skin pigmentation on his face, lip, and sclera. DIAGNOSES: The patient was diagnosed as Carney complex. INTERVENTIONS: the patient underwent right adrenalectomy and partial adrenalectomy of the left adrenal gland. OUTCOME: Results of imaging showed bilateral adrenal nodular hyperplasia, multiple microcalcifications of the bilateral testes, and compression fracture of the thoracolumbar spine. Histopathological results confirmed multiple pigmented nodules in the adrenal glands. DNA sequencing revealed a nonsense mutation in the gene encoding regulatory subunit type 1-alpha of protein kinase A (PRKAR1A; c.205C > T). After the second adrenalectomy, the Cushingoid features disappeared, and cortisol levels returned to normal. LESSONS: Carney complex is a rare disease that lacks consistent genotype-phenotype correlations. Our patient, who carried a germline PRKAR1A nonsense mutation (c.205C > T), clinical features included spotty skin pigmentation, osteoporosis, and primary pigmented nodular adrenal disease. Adrenalectomy is the preferred treatment for Cushing syndrome due to primary pigmented nodular adrenal disease.
[Mh] Termos MeSH primário: Complexo de Carney/genética
Subunidade RIalfa da Proteína Quinase Dependente de AMP Cíclico/genética
Mutação/genética
[Mh] Termos MeSH secundário: Adolescente
Adrenalectomia
Complexo de Carney/diagnóstico
Complexo de Carney/cirurgia
Diagnóstico Diferencial
Seres Humanos
Masculino
Reação em Cadeia da Polimerase
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (Cyclic AMP-Dependent Protein Kinase RIalpha Subunit); 0 (PRKAR1A protein, human)
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180301
[Lr] Data última revisão:
180301
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:180203
[St] Status:MEDLINE
[do] DOI:10.1097/MD.0000000000008999


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[PMID]:28615245
[Au] Autor:Ye H; Wang X; Constans MM; Sussman CR; Chebib FT; Irazabal MV; Young WF; Harris PC; Kirschner LS; Torres VE
[Ad] Endereço:Mayo Clinic, Rochester Minnesota; and.
[Ti] Título:The regulatory 1α subunit of protein kinase A modulates renal cystogenesis.
[So] Source:Am J Physiol Renal Physiol;313(3):F677-F686, 2017 Sep 01.
[Is] ISSN:1522-1466
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:The failure of the polycystins (PCs) to function in primary cilia is thought to be responsible for autosomal dominant polycystic kidney disease (ADPKD). Primary cilia integrate multiple cellular signaling pathways, including calcium, cAMP, Wnt, and Hedgehog, which control cell proliferation and differentiation. It has been proposed that mutated PCs result in reduced intracellular calcium, which in turn upregulates cAMP, protein kinase A (PKA) signaling, and subsequently other proliferative signaling pathways. However, the role of PKA in ADPKD has not been directly ascertained in vivo, although the expression of the main regulatory subunit of PKA in cilia and other compartments (PKA-RIα, encoded by ) is increased in a mouse model orthologous to ADPKD. Therefore, we generated a kidney-specific knockout of to examine the consequences of constitutive upregulation of PKA on wild-type and hypomorphic ( ) backgrounds. Kidney-specific loss of induced renal cystic disease and markedly aggravated cystogenesis in the models. In both settings, it was accompanied by upregulation of Src, Ras, MAPK/ERK, mTOR, CREB, STAT3, Pax2 and Wnt signaling. On the other hand, Gli3 repressor activity was enhanced, possibly contributing to hydronephrosis and impaired glomerulogenesis in some animals. To assess the relevance of these observations in humans we looked for and found evidence for kidney and liver cystic phenotypes in the Carney complex, a tumoral syndrome caused by mutations in These observations expand our understanding of the pathogenesis of ADPKD and demonstrate the importance of highlighting PKA as a therapeutic target in ADPKD.
[Mh] Termos MeSH primário: Complexo de Carney/enzimologia
Subunidade RIalfa da Proteína Quinase Dependente de AMP Cíclico/metabolismo
Cistos/enzimologia
Rim/enzimologia
Hepatopatias/enzimologia
Rim Policístico Autossômico Dominante/enzimologia
[Mh] Termos MeSH secundário: Adolescente
Adulto
Animais
Complexo de Carney/diagnóstico por imagem
Complexo de Carney/genética
Proliferação Celular
Criança
Proteína de Ligação ao Elemento de Resposta ao AMP Cíclico/metabolismo
Subunidade RIalfa da Proteína Quinase Dependente de AMP Cíclico/deficiência
Subunidade RIalfa da Proteína Quinase Dependente de AMP Cíclico/genética
Cistos/diagnóstico por imagem
Cistos/genética
Modelos Animais de Doenças
MAP Quinases Reguladas por Sinal Extracelular/metabolismo
Feminino
Predisposição Genética para Doença
Seres Humanos
Rim/patologia
Rim/fisiopatologia
Fatores de Transcrição Kruppel-Like/genética
Fatores de Transcrição Kruppel-Like/metabolismo
Hepatopatias/diagnóstico por imagem
Hepatopatias/genética
Masculino
Camundongos da Linhagem 129
Camundongos Endogâmicos C57BL
Camundongos Knockout
Meia-Idade
Proteínas do Tecido Nervoso/genética
Proteínas do Tecido Nervoso/metabolismo
Fator de Transcrição PAX2/metabolismo
Fenótipo
Rim Policístico Autossômico Dominante/genética
Rim Policístico Autossômico Dominante/patologia
Rim Policístico Autossômico Dominante/fisiopatologia
Fator de Transcrição STAT3/metabolismo
Serina-Treonina Quinases TOR/metabolismo
Canais de Cátion TRPP/genética
Via de Sinalização Wnt
Adulto Jovem
Proteína Gli3 com Dedos de Zinco
Proteínas ras/metabolismo
Quinases da Família src/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Creb1 protein, mouse); 0 (Cyclic AMP Response Element-Binding Protein); 0 (Cyclic AMP-Dependent Protein Kinase RIalpha Subunit); 0 (Gli3 protein, mouse); 0 (Kruppel-Like Transcription Factors); 0 (Nerve Tissue Proteins); 0 (PAX2 Transcription Factor); 0 (PRKAR1A protein, human); 0 (Pax2 protein, mouse); 0 (Prkar1a protein, mouse); 0 (STAT3 Transcription Factor); 0 (Stat3 protein, mouse); 0 (TRPP Cation Channels); 0 (Zinc Finger Protein Gli3); 0 (polycystic kidney disease 1 protein); EC 2.7.1.1 (TOR Serine-Threonine Kinases); EC 2.7.1.1 (mTOR protein, mouse); EC 2.7.10.2 (src-Family Kinases); EC 2.7.11.24 (Extracellular Signal-Regulated MAP Kinases); EC 3.6.5.2 (ras Proteins)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170616
[St] Status:MEDLINE
[do] DOI:10.1152/ajprenal.00119.2017


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[PMID]:28522647
[Au] Autor:Kiefer FW; Winhofer Y; Iacovazzo D; Korbonits M; Wolfsberger S; Knosp E; Trautinger F; Höftberger R; Krebs M; Luger A; Gessl A
[Ad] Endereço:Clinical Division of Endocrinology and MetabolismDepartment of Medicine III, Medical University of Vienna, Vienna, Austria.
[Ti] Título: mutation causing pituitary-dependent Cushing disease in a patient with Carney complex.
[So] Source:Eur J Endocrinol;177(2):K7-K12, 2017 Aug.
[Is] ISSN:1479-683X
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:CONTEXT: Carney complex (CNC) is an autosomal dominant condition caused, in most cases, by an inactivating mutation of the gene, which encodes for the type 1 alpha regulatory subunit of protein kinase A. CNC is characterized by the occurrence of endocrine overactivity, myxomas and typical skin manifestations. Cushing syndrome due to primary pigmented nodular adrenocortical disease (PPNAD) is the most frequent endocrine disease observed in CNC. CASE DESCRIPTION: Here, we describe the first case of a patient with CNC and adrenocorticotropic hormone (ACTH)-dependent Cushing disease due to a pituitary corticotroph adenoma. Loss-of-heterozygosity analysis of the pituitary tumour revealed loss of the wild-type copy of , suggesting a role of this gene in the pituitary adenoma development. CONCLUSION: loss-of-function mutations can rarely lead to ACTH-secreting pituitary adenomas in CNC patients. Pituitary-dependent disease should be considered in the differential diagnosis of Cushing syndrome in CNC patients.
[Mh] Termos MeSH primário: Complexo de Carney/genética
Subunidade RIalfa da Proteína Quinase Dependente de AMP Cíclico/genética
Mutação/genética
Hipersecreção Hipofisária de ACTH/genética
[Mh] Termos MeSH secundário: Adulto
Complexo de Carney/complicações
Complexo de Carney/diagnóstico por imagem
Seres Humanos
Masculino
Hipersecreção Hipofisária de ACTH/complicações
Hipersecreção Hipofisária de ACTH/diagnóstico por imagem
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Cyclic AMP-Dependent Protein Kinase RIalpha Subunit); 0 (PRKAR1A protein, human)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170829
[Lr] Data última revisão:
170829
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170520
[St] Status:MEDLINE
[do] DOI:10.1530/EJE-17-0227


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[PMID]:28297688
[Au] Autor:Okamoto A; Wajima D; Tei R; Shin Y; Inoue M; Aketa S; Yonezawa T
[Ad] Endereço:Department of Neurosurgery, Osaka Police Hospital.
[Ti] Título:[A Case of a Pituitary Adenoma Diagnosed as Carney Complex Syndrome in an Older Female Patient].
[So] Source:No Shinkei Geka;45(3):225-231, 2017 Mar.
[Is] ISSN:0301-2603
[Cp] País de publicação:Japan
[La] Idioma:jpn
[Ab] Resumo:Carney complex syndrome is an autosomal dominant familial tumor syndrome first described by Carney et al. in 1985. The diagnostic criteria include endocrine hyperactivity and spotty skin pigmentation. A 73-year-old woman with cerebral infarction was referred to our department because her brain magnetic resonance imaging(MRI)revealed a pituitary tumor. Her blood tests revealed elevated levels of growth hormone(GH), thyroid stimulating hormone(TSH), and insulin-like growth factor-1(IGF-1). We suspected the presence of a GH-secreting tumor and performed the operation. The pathological finding was a TSH-positive pituitary adenoma. Her cervical computed tomography(CT)revealed a thyroid tumor and the tumor removal was performed. The pathological diagnosis was papillary carcinoma. She had skin pigmentation bilaterally on her face, forearms, hands, and legs. We diagnosed this case as Carney complex syndrome based on these findings.
[Mh] Termos MeSH primário: Adenoma/patologia
Adenoma/terapia
Complexo de Carney/cirurgia
Neoplasias Hipofisárias/terapia
[Mh] Termos MeSH secundário: Adenoma/diagnóstico
Idoso
Encéfalo/patologia
Complexo de Carney/diagnóstico
Complexo de Carney/patologia
Feminino
Hormônio do Crescimento Humano/análogos & derivados
Hormônio do Crescimento Humano/uso terapêutico
Seres Humanos
Imagem por Ressonância Magnética/métodos
Neoplasias Hipofisárias/diagnóstico
Neoplasias Hipofisárias/patologia
Pele/patologia
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
12629-01-5 (Human Growth Hormone); N824AOU5XV (pegvisomant)
[Em] Mês de entrada:1706
[Cu] Atualização por classe:170622
[Lr] Data última revisão:
170622
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170316
[St] Status:MEDLINE
[do] DOI:10.11477/mf.1436203483


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[PMID]:28255981
[Au] Autor:Sikorska D; Bednarek-Papierska L; Mojs E; Makowska E; Ruchala M; Samborski W
[Ad] Endereço:Department of Rheumatology and Rehabilitation, Poznan University of Medical Sciences, Poland. dorota_s8@wp.pl.
[Ti] Título:Bilateral primary pigmented nodular adrenal disease as a component of Carney syndrome - case report.
[So] Source:Endokrynol Pol;68(1):70-72, 2017.
[Is] ISSN:2299-8306
[Cp] País de publicação:Poland
[La] Idioma:eng
[Ab] Resumo:We report a case of a 20-year-old patient with Cushing's syndrome as a component of Carney syndrome. Carney syndrome is an autosomal dominant disease with co-existing bilateral pigmented nodular adrenal disease, heart and skin myxoma, skin pigmentation, breast fibroadenoma, testicular and ovarian tumours, thyroid tumours, and pituitary adenomas. (Endokrynol Pol 2017; 68 (1): 70-72).
[Mh] Termos MeSH primário: Complexo de Carney/complicações
Síndrome de Cushing/etiologia
[Mh] Termos MeSH secundário: Adrenalectomia
Síndrome de Cushing/diagnóstico
Síndrome de Cushing/metabolismo
Síndrome de Cushing/cirurgia
Subunidade RIalfa da Proteína Quinase Dependente de AMP Cíclico/genética
Feminino
Seres Humanos
Mutação de Sentido Incorreto
Adulto Jovem
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Cyclic AMP-Dependent Protein Kinase RIalpha Subunit); 0 (PRKAR1A protein, human)
[Em] Mês de entrada:1705
[Cu] Atualização por classe:170504
[Lr] Data última revisão:
170504
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170304
[St] Status:MEDLINE
[do] DOI:10.5603/EP.2017.0008


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[PMID]:28012237
[Au] Autor:Tatsi C; Bacopoulou F; Lyssikatos C; Belyavskaya E; Faucz FR; Stratakis CA
[Ad] Endereço:Section on Endocrinology & Genetics, Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD), National Institutes of Health (NIH), Bethesda, Maryland.
[Ti] Título:Sporadic melanotic schwannoma with overlapping features of melanocytoma bearing a GNA11 mutation in an adolescent girl.
[So] Source:Pediatr Blood Cancer;64(6), 2017 Jun.
[Is] ISSN:1545-5017
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Melanotic schwannoma (MS) is a soft tissue neoplasm that shares histologic features with melanocytic tumors and schwannomas. A type of MS, called psammomatous MS (PMS), is associated with Carney complex (CNC), which is caused by PRKAR1A mutations. Other pigmented neoplasms, such as uveal melanomas and melanocytomas (MCs), are associated with genetic defects in other genes including GNA11. We report an adolescent female with a large sporadic mesenteric MS with complex histologic findings reminiscent of both PMS and MC. The lesion carried a mutation of the GNA11 gene. We conclude that sporadic MSs may occur rarely in adolescents without CNC; MSs may also be associated with somatic GNA11 mutations.
[Mh] Termos MeSH primário: Complexo de Carney/genética
Subunidades alfa de Proteínas de Ligação ao GTP/genética
Proteínas de Neoplasias/genética
Neurilemoma/genética
[Mh] Termos MeSH secundário: Adolescente
Complexo de Carney/patologia
Feminino
Seres Humanos
Neurilemoma/patologia
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (GNA11 protein, human); 0 (GTP-Binding Protein alpha Subunits); 0 (Neoplasm Proteins)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170831
[Lr] Data última revisão:
170831
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161225
[St] Status:MEDLINE
[do] DOI:10.1002/pbc.26400


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[PMID]:27875378
[Au] Autor:Lowe KM; Young WF; Lyssikatos C; Stratakis CA; Carney JA
[Ad] Endereço:*Department of Internal Medicine †Division of Endocrinology, Diabetes, Metabolism and Nutrition §Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN ‡Section on Endocrinology and Genetics, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD.
[Ti] Título:Cushing Syndrome in Carney Complex: Clinical, Pathologic, and Molecular Genetic Findings in the 17 Affected Mayo Clinic Patients.
[So] Source:Am J Surg Pathol;41(2):171-181, 2017 Feb.
[Is] ISSN:1532-0979
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Carney complex (CNC) is a rare dominantly inherited multiorgan tumoral disorder that includes Cushing syndrome (CS). To establish the Mayo Clinic experience with the CS component, including its clinical, laboratory, and pathologic findings, we performed a retrospective search of the patient and pathologic databases of Mayo Clinic in Rochester, MN, for patients with CNC and clinical or laboratory findings of CS. Thirty-seven patients with CNC were identified. Twenty-nine had clinical, pathologic, or laboratory evidence of an adrenocortical disorder. Seventeen had classic CS; 15 underwent bilateral, subtotal, or partial unilateral adrenalectomy, and 2 had no treatment. Pathologically, the glands were normal sized or slightly enlarged with multiple small (1 to 4 mm), brown, black, and yellow micronodules (primary pigmented nodular adrenocortical disease; PPNAD). Three glands each had a mass: a 2 cm adenoma, a 1.5 cm macronodule, and an unencapsulated 1.8 cm myelolipoma. Fourteen of the patients were alive at follow-up, and 3 were deceased; 2 of the latter had PPNAD at autopsy, and the third had PPNAD at surgery. Twelve patients without clinical features of classic CS had abnormal adrenocortical testing results; none developed classic CS during follow-up (mean, 10 y). Autopsy findings in 1 showed bilateral vacuolated cell cortical hyperplasia.
[Mh] Termos MeSH primário: Glândulas Suprarrenais/patologia
Complexo de Carney/complicações
Síndrome de Cushing/etiologia
[Mh] Termos MeSH secundário: Adulto
Complexo de Carney/genética
Complexo de Carney/patologia
Criança
Pré-Escolar
Subunidade RIalfa da Proteína Quinase Dependente de AMP Cíclico/genética
Análise Mutacional de DNA
Feminino
Seres Humanos
Masculino
Meia-Idade
Estudos Retrospectivos
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Cyclic AMP-Dependent Protein Kinase RIalpha Subunit); 0 (PRKAR1A protein, human)
[Em] Mês de entrada:1707
[Cu] Atualização por classe:170719
[Lr] Data última revisão:
170719
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161123
[St] Status:MEDLINE
[do] DOI:10.1097/PAS.0000000000000748


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[PMID]:27943004
[Au] Autor:Stratakis CA
[Ad] Endereço:Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Building 10, Room East 1330, CRC, 10 Center Dr. MSC1862, Bethesda, MD, 20892-1862, USA. stratakc@mail.nih.gov.
[Ti] Título:Carney complex: A familial lentiginosis predisposing to a variety of tumors.
[So] Source:Rev Endocr Metab Disord;17(3):367-371, 2016 Sep.
[Is] ISSN:1573-2606
[Cp] País de publicação:Germany
[La] Idioma:eng
[Ab] Resumo:Carney complex is a familial lentiginosis syndrome; these disorders cover a wide phenotypic spectrum ranging from a benign inherited predisposition to develop cutaneous spots not associated with systemic disease to associations with several syndromes. Carney complex is caused by PRKAR1A mutations and perturbations of the cyclic AMP-dependent protein kinase (PKA) signaling pathway. In addition to the cutaneous findings, the main tumors associated with Carney complex are endocrine: 1) primary pigmented nodular adrenocortical disease, a bilateral adrenal hyperplasia leading to Cushing syndrome; 2) growth-hormone secreting pituitary adenoma or pituitary somatotropic hyperplasia leading to acromegaly; 3) thyroid and gonadal tumors, including a predisposition to thyroid cancer. Other tumors associated with Carney complex include: 1) myxomas of the heart, breast and other sites; 2) psamommatous melanotic schwannomas which can become malignant; 4) a predisposition to a variety of cancers.
[Mh] Termos MeSH primário: Complexo de Carney/patologia
Neoplasias das Glândulas Endócrinas/patologia
Doenças do Sistema Endócrino/patologia
Lentigo/patologia
[Mh] Termos MeSH secundário: Complexo de Carney/genética
Neoplasias das Glândulas Endócrinas/genética
Doenças do Sistema Endócrino/genética
Seres Humanos
Lentigo/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171004
[Lr] Data última revisão:
171004
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161213
[St] Status:MEDLINE


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[PMID]:27377598
[Au] Autor:Papanastasiou L; Fountoulakis S; Voulgaris N; Kounadi T; Choreftaki T; Kostopoulou A; Zografos G; Lyssikatos C; Stratakis CA; Piaditis G
[Ad] Endereço:Department of Endocrinology and Diabetes Center, "G. Gennimatas" General Hospital, Athens, Greece.
[Ti] Título:Identification of a novel mutation of the PRKAR1A gene in a patient with Carney complex with significant osteoporosis and recurrent fractures.
[So] Source:Hormones (Athens);15(1):129-35, 2016 Jan-Mar.
[Is] ISSN:1109-3099
[Cp] País de publicação:Greece
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: Carney complex (CNC) is a rare autosomal dominant multiple neoplasia syndrome characterized by the presence of endocrine and non-endocrine tumors. More than 125 different germline mutations of the protein Kinase A type 1-α regulatory subunit (PRKAR1A) gene have been reported. We present a novel PRKAR1A gene germline mutation in a patient with severe osteoporosis and recurrent vertebral fractures. DESIGN: Clinical case report. CASE REPORT: A 53-year-old male with a medical history of surgically removed recurrent cardiac myxomas was evaluated for repeated low-pressure vertebral fractures and severe osteoporosis. Physical examination revealed spotty skin pigmentation of the lower extremities and papules in the nuchal and thoracic region. The presence of hypercortisolism due to micronodular adrenal disease and the history of cardiac myxomas suggested the diagnosis of CNC; the patient underwent detailed imaging investigation and genetic testing. METHODS: Standard imaging and clinical testing; DNA was sequenced by the Sanger method. RESULTS: Sequence analysis from peripheral lymphocytes DNA revealed a novel heterozygous point mutation at codon 172 of exon 2 (c.172G>T) of the PRKAR1A gene, resulting in early termination of the PRKAR1A transcript [p.Glu58Ter (E58X)]. CONCLUSION: We report a novel point mutation of the PRKAR1A gene in a patient with CNC who presented with significant osteoporosis and fractures. Low bone mineral density along with recurrent myxomas should point to the diagnosis of CNC.
[Mh] Termos MeSH primário: Complexo de Carney/genética
Complexo de Carney/metabolismo
Subunidade RIalfa da Proteína Quinase Dependente de AMP Cíclico/metabolismo
Fraturas Espontâneas/etiologia
Osteoporose/etiologia
[Mh] Termos MeSH secundário: Subunidade RIalfa da Proteína Quinase Dependente de AMP Cíclico/genética
Fraturas Espontâneas/patologia
Regulação da Expressão Gênica
Seres Humanos
Masculino
Meia-Idade
Mutação
Osteoporose/patologia
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE; RESEARCH SUPPORT, N.I.H., INTRAMURAL; REVIEW
[Nm] Nome de substância:
0 (Cyclic AMP-Dependent Protein Kinase RIalpha Subunit); 0 (PRKAR1A protein, human)
[Em] Mês de entrada:1701
[Cu] Atualização por classe:170106
[Lr] Data última revisão:
170106
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160706
[St] Status:MEDLINE
[do] DOI:10.14310/horm.2002.1627


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[PMID]:27364495
[Au] Autor:Kellner S; Beug D; Empen K; Felix SB; Hummel A
[Ad] Endereço:Medizinische Klinik für Innere Medizin B, Universitätsmedizin Greifswald, Ferdinand-Sauerbruch-Straße, 17475, Greifswald, Deutschland. kellners@uni-greifswald.de.
[Ti] Título:[From myxomas of the skin to LVAD implantation : A 28-year-old female patient with Carney complex].
[Ti] Título:Von Hautmyxomen zur LVAD-Implantation : Eine 28-jährige Patientin mit Carney-Komplex..
[So] Source:Internist (Berl);57(9):927-33, 2016 Sep.
[Is] ISSN:1432-1289
[Cp] País de publicação:Germany
[La] Idioma:ger
[Ab] Resumo:Multiple skin lesions, endocrine dysfunction and cardiac myxomas are characteristic symptoms of Carney complex. This case report gives an overview about the major and minor criteria of Carney complex and presents the course of a female patient who developed severe cardiac insufficiency with multiple organ failure because of recurring heart operations leading to implantation of a left ventricular assist device (LVAD).
[Mh] Termos MeSH primário: Procedimentos Cirúrgicos Cardíacos/efeitos adversos
Complexo de Carney/cirurgia
Insuficiência Cardíaca/etiologia
Insuficiência Cardíaca/prevenção & controle
Coração Auxiliar
Insuficiência de Múltiplos Órgãos/etiologia
[Mh] Termos MeSH secundário: Adulto
Complexo de Carney/complicações
Feminino
Seres Humanos
Insuficiência de Múltiplos Órgãos/prevenção & controle
Implante de Prótese
Resultado do Tratamento
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170916
[Lr] Data última revisão:
170916
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160702
[St] Status:MEDLINE
[do] DOI:10.1007/s00108-016-0093-z



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