ABSTRACT
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%). 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% 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.
Subject(s)
Blood Coagulation Disorders/blood , Noonan Syndrome/blood , Adolescent , Adult , Blood Coagulation Disorders/complications , Child , Child, Preschool , Factor XI Deficiency/complications , Female , Hemorrhagic Disorders/etiology , Humans , Infant , Male , Noonan Syndrome/complicationsABSTRACT
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
Subject(s)
Humans , Male , Female , Infant , Child, Preschool , Child , Adolescent , Adult , Blood Coagulation Disorders , Noonan Syndrome/blood , Blood Coagulation , Factor XI Deficiency , Hematologic Tests , Hemorrhagic Disorders , Noonan Syndrome/complicationsABSTRACT
BACKGROUND: Misoprostol exposure in the first trimester of pregnancy has been related to congenital malformations, particularly the Möbius sequence and terminal transverse limb defects. CASES: Neuropathological findings of three patients with Möbius sequence related to misoprostol are reported. No previous pathological studies have shown these abnormalities to be associated with misoprostol exposure in utero. The brain stem was cut serially, from the rostral mesencephalum to the caudal aspect of the medulla, and all fragments were stained with hematoxylin-eosin and cresyl violet. Old ischemic-anoxic foci of gliosis, with necrosis and calcification, dorsally situated, were present from the pons to the medulla, involving some cranial nerve nuclei (especially the IV, VII, and XII) that were partially or completely depopulated of neural cells. CONCLUSIONS: The findings suggest a circulatory mechanism to the Möbius sequence, with vascular disruption involving the territory of the subclavian artery, occurring in a critical period of embryonic life between six to eight weeks postconception. These cases add further evidence of the role of misoprostol as a teratogen.
Subject(s)
Abnormalities, Drug-Induced , Abortifacient Agents, Nonsteroidal/adverse effects , Abortion, Induced/adverse effects , Misoprostol/adverse effects , Mobius Syndrome/chemically induced , Child, Preschool , Fatal Outcome , Female , Gestational Age , Humans , Infant , Infant, Newborn , Male , PregnancyABSTRACT
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
Subject(s)
Infant, Newborn , Humans , Male , Diabetes Mellitus/complications , Pancreatectomy/adverse effects , Sacrococcygeal Region/abnormalitiesABSTRACT
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
Subject(s)
Cystic Fibrosis , Patient Care Team , Professional-Family RelationsABSTRACT
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
Subject(s)
Infant, Newborn , Humans , Female , Chromosome Aberrations , Chromosomes, Human, 13-15 , TrisomyABSTRACT
Os autores descrevem um caso de sindrome de Kartagener e fazem comentarios sobre o quadro clinico, etiopatogenia, diagnostico e tratamento dessa sindrome
