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1.
Rev. Hosp. Clin. Fac. Med. Univ. Säo Paulo ; 58(1): 5-8, Jan.-Feb. 2003. tab
Article Dans Anglais | LILACS | ID: lil-335223

Résumé

OBJECTIVE: Noonan syndrome is a multiple congenital anomaly syndrome, and bleeding diathesis is considered part of the clinical findings. The purpose of this study was to determine the frequency of hemostatic abnormalities in a group of Noonan syndrome patients. METHOD: We studied 30 patients with clinical diagnosis of Noonan syndrome regarding their hemostatic status consisting of bleeding time, prothrombin time, activated partial thromboplastin time and thrombin time tests, a platelet count, and a quantitative determination of factor XI. RESULTS: An abnormal laboratory result was observed in 9 patients (30 percent). Although coagulation-factor deficiencies, especially factor XI deficiency, were the most common hematological findings, we also observed abnormalities of platelet count and function in our screening. CONCLUSIONS: Hemostatic abnormalities are found with some frequency in Noonan syndrome patients (30 percent in our sample). Therefore, we emphasize the importance of a more extensive hematological investigation in these patients, especially prior to an invasive procedure, which is required with some frequency in this disorder


Sujets)
Humains , Mâle , Femelle , Nourrisson , Enfant d'âge préscolaire , Enfant , Adolescent , Adulte , Troubles de l'hémostase et de la coagulation , Syndrome de Noonan/sang , Coagulation sanguine , Déficit en facteur XI , Tests hématologiques , Troubles hémorragiques , Syndrome de Noonan/complications
2.
J. pediatr. (Rio J.) ; 58(4): 211-5, abr. 1985.
Article Dans Portugais | LILACS | ID: lil-2624

Résumé

Os autores relatan um caso de síndrome de Regressäo Caudal associado ao diabetes materno pós-pancreatectomia. Säo apresentados dados clínicos, laboratoriais e radiológicos do caso, revisäo da literatura e discutidos os aspectos etiológicos da síndrome. Trata-se do 1§ caso da literatura de SRC associado com diabetes pós-pancreatectomia


Sujets)
Nouveau-né , Humains , Mâle , Diabète/complications , Pancréatectomie/effets indésirables , Région sacrococcygienne/malformations
3.
Pediatria (Säo Paulo) ; 5(2): 117-20, 1983.
Article Dans Portugais | LILACS | ID: lil-14208

Résumé

Os autores descrevem as caracterisiticas de organizacao e operacionalizacao de um atendimento multiprofissional ao paciente com fibrose cistica. Salientam o valor da abordegem global do paciente por profissionais familiarizados com a molestia, possibilitando uma acao terapeutica mais adequada e completa


Sujets)
Mucoviscidose , Équipe soignante , Relations famille-professionnel de santé
4.
Pediatria (Säo Paulo) ; 5(2): 123-8, 1983.
Article Dans Portugais | LILACS | ID: lil-14210

Résumé

Os autores apresentam um caso de sindrome de Patau, diagnosticado clinicamente e com confirmacao atraves do cariotipo.A necropsia verificou-se alteracoes compativeis com o diagnostico de infeccao congenita de etiologia nao determinada: havia antecedentes de lues materna. Discute-se a correlacao entre os dados clinicos e os achados anatomo-patologicos indicativos de infeccao congenita


Sujets)
Nouveau-né , Humains , Femelle , Aberrations des chromosomes , Chromosomes humains 13-15 , Trisomie
5.
Pediatria (Säo Paulo) ; 4(3): 230-4, 1982.
Article Dans Portugais | LILACS | ID: lil-8443

Résumé

Os autores descrevem um caso de sindrome de Kartagener e fazem comentarios sobre o quadro clinico, etiopatogenia, diagnostico e tratamento dessa sindrome


Sujets)
Enfant d'âge préscolaire , Humains , Mâle , Syndrome de Kartagener
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