RESUMO
Congenital cytomegalovirus infection can cause a wide variety of symptoms. We report three infants with congenital cytomegalovirus infection presenting with respiratory insufficiency associated with persistent diaphragmatic dysfunction. Congenital cytomegalovirus infection should be considered in the differential diagnosis of neonatal diaphragmatic dysfunction.
Assuntos
Infecções por Citomegalovirus/congênito , Infecções por Citomegalovirus/fisiopatologia , Diafragma/fisiopatologia , Insuficiência Respiratória/etiologia , Infecções por Citomegalovirus/sangue , Infecções por Citomegalovirus/diagnóstico por imagem , Infecções por Citomegalovirus/terapia , Diafragma/diagnóstico por imagem , Evolução Fatal , Feminino , Humanos , Recém-Nascido , Gravidez , Radiografia , Respiração Artificial , Insuficiência Respiratória/fisiopatologia , Insuficiência Respiratória/virologia , TraqueostomiaRESUMO
Ultrapremature babies accompanied by intrauterine growth retardation may require supplemental calcium and phosphorus far above the recommended doses.
Assuntos
Compostos de Cálcio/administração & dosagem , Desenvolvimento Infantil/fisiologia , Suplementos Nutricionais , Recém-Nascido Prematuro , Recém-Nascido de muito Baixo Peso , Fósforo/administração & dosagem , Adulto , Osso e Ossos/efeitos dos fármacos , Cesárea , Relação Dose-Resposta a Droga , Esquema de Medicação , Feminino , Retardo do Crescimento Fetal/diagnóstico por imagem , Seguimentos , Humanos , Recém-Nascido , Gravidez , Resultado do Tratamento , Ultrassonografia Pré-Natal/métodos , Aumento de PesoRESUMO
We describe a case of aneurysm of the vein of Galen (AVG), which was diagnosed by intrauterine US, MRI and MRA. The baby girl was born at 35 weeks' gestation. She had severe clinical symptoms at birth and died at 29 h of age from intractable congestive heart failure. Intrauterine US detected an intracranial aneurysm and cardiomegaly due to excessive arteriovenous shunting. Intrauterine MRI (SSFSE) confirmed the diagnosis of AVG, and intrauterine MRA (2D-TOF) successfully demonstrated the anatomical structure of the AVG. MRA may be a useful additional sequence to evaluate AVG, and 2D-TOF is thought to be an appropriate technique for scanning fetal AVG.
Assuntos
Veias Cerebrais/anormalidades , Aneurisma Intracraniano/congênito , Malformações Arteriovenosas Intracranianas/diagnóstico , Imageamento por Ressonância Magnética , Diagnóstico Pré-Natal , Adulto , Feminino , Morte Fetal , Insuficiência Cardíaca/congênito , Insuficiência Cardíaca/diagnóstico , Humanos , Recém-Nascido , Aneurisma Intracraniano/diagnóstico , Angiografia por Ressonância MagnéticaRESUMO
Ultrasonography is used for the prenatal diagnosis of hypoplastic lungs. However, ultrasound poses problems because of difficulties in getting the entire lung in perspective and the results depend on the skill of the examiner. When the alveolar formation of the fetal lung is retarded, the fetus is predicted to show an altered density on MRI using an SSFSE sequence due to a varied amount of alveolar lung fluid. We present a case of twins who showed a marked difference in signal intensity of the lung on MRI, which was useful for predicting the fetal pathophysiology. Intrauterine MRI provides the possibility of diagnosing hypoplastic lungs prenatally.
Assuntos
Imageamento por Ressonância Magnética , Adulto , Síndrome de Down/complicações , Transferência Embrionária , Evolução Fatal , Feminino , Fertilização in vitro , Idade Gestacional , Humanos , Pulmão/embriologia , Pulmão/patologia , Oligo-Hidrâmnio/complicações , Gravidez , Gêmeos , Ultrassonografia Pré-Natal , Doenças Urológicas/complicações , Incompetência do Colo do Útero/cirurgiaRESUMO
We report on a triploid infant who survived for 46 days. She had severe intrauterine growth retardation, relative macrocephaly, and a small, noncystic placenta, which are manifestations compatible with type II phenotype. Cultured amniotic fluid cells, skin fibroblasts, cord blood, and peripheral blood lymphocytes all showed a nonmosaic 69,XXX karyotype. Analysis of chromosomal heteromorphisms and microsatellite DNA polymorphisms in the infant and her parents indicated that the extra haploid set in the infant resulted from nondisjunction at maternal second meiosis. Postzygotic, mitotic nondisjunction was ruled out because of the presence of both homozygous and heterozygous markers of maternal origin. A search of the literature demonstrated five triploid infants, including the girl we described, who survived 4 weeks or more, and the parental origin of whose triploidy was studied: four were digynic and one was diandric. These findings support the notion that type II triploids are digynic in parental origin and that they survive longer than type I, diandric triploids.
Assuntos
Aberrações Cromossômicas/genética , Poliploidia , Anormalidades Múltiplas/genética , Anormalidades Múltiplas/patologia , Adulto , Aberrações Cromossômicas/patologia , Transtornos Cromossômicos , Evolução Fatal , Feminino , Genótipo , Humanos , Lactente , Cariotipagem , Masculino , FenótipoRESUMO
Plasmids expressing G1 and G2 cyclins were introduced into the Saos-2 cell system monitoring p53-mediated transactivation [(1993) Oncogene 8, 543]. Cyclin E, but not other cyclins, enhanced the p53-mediated transactivation about 2-fold. Co-transfection of a CDK2 expression plasmid caused a 30% increase in the extent of the p53-mediated transactivation. Moreover, the transfected p53 protein became phosphorylated coordinately with the enhanced transactivation. The close correlation between transactivation and p53 phosphorylation suggests that phosphorylation is involved in positive regulation for the transactivation by p53.
