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1.
Obstet Gynecol ; 97(5 Pt 2): 802-3, 2001 May.
Artigo em Inglês | MEDLINE | ID: mdl-11336757

RESUMO

BACKGROUND: Women with spinal cord injuries are at risk for autonomic hyperreflexia during labor. CASE: A 36-year-old woman, gravida 4, para 2, abortus 1, with a spinal cord injury and a positive antibody screen result had had a previous pregnancy complicated by autonomic hyperreflexia during labor. Autonomic hyperreflexia did not occur during serial amniocenteses and fetal transfusions for isoimmunization or intrapartum. CONCLUSION: Intrauterine procedures and vaginal delivery were accomplished without autonomic hyperreflexia in this pregnancy. Intrauterine procedures and vaginal delivery might be done safely in women with histories of autonomic hyperreflexia.


Assuntos
Disreflexia Autonômica/terapia , Complicações na Gravidez/terapia , Traumatismos da Medula Espinal/terapia , Adulto , Transfusão de Sangue Intrauterina , Doença Crônica , Parto Obstétrico , Feminino , Humanos , Recém-Nascido , Masculino , Assistência Perinatal , Gravidez , Resultado da Gravidez , Cuidado Pré-Natal , Vértebras Torácicas
2.
Am J Med Genet ; 94(3): 179-83, 2000 Sep 18.
Artigo em Inglês | MEDLINE | ID: mdl-10995502

RESUMO

We describe a newborn boy one of triplets, whose karyotype was 46,XY, t(8;12)(q22;q21). Prenatal diagnosis of multiple craniofacial anomalies had been made. Following delivery, the patient was thought to exhibit findings consistent with a diagnosis of frontofacionasal dysostosis. We hypothesize that one of the break points of this translocation may involve a gene essential to craniofacial development.


Assuntos
Cromossomos Humanos Par 12/genética , Cromossomos Humanos Par 8/genética , Anormalidades Craniofaciais/genética , Disostoses/genética , Translocação Genética/genética , Humanos , Lactente , Recém-Nascido , Cariotipagem , Masculino , Fenótipo , Síndrome , Trigêmeos
3.
J Perinatol ; 18(5): 395-8, 1998.
Artigo em Inglês | MEDLINE | ID: mdl-9766419

RESUMO

Prenatal diagnosis and clinical follow up of a patient with mosaicism for anomalies of chromosome 18 are reported. The fetus appeared on ultrasound to have multiple anomalies, including clubbed feet, abnormal hand positioning, edema of the scalp, cleft palate, and polyhydramnios. The karyotype on amniocytes was 47,XY,+i(18p). Postnatally, the peripheral blood karyotype was 46,XY,+i(18q), whereas the skin fibroblast karyotype was 47,XY,+i(18p). The infant had many features consistent with those previously described in cases of tetrasomy 18p and some that were consistent with trisomy 18q.


Assuntos
Anormalidades Múltiplas/genética , Aberrações Cromossômicas/diagnóstico , Cromossomos Humanos Par 18 , Mosaicismo/diagnóstico , Diagnóstico Pré-Natal , Trissomia/diagnóstico , Anormalidades Múltiplas/diagnóstico , Adulto , Amniocentese , Transtornos Cromossômicos , Feminino , Seguimentos , Humanos , Recém-Nascido , Cariotipagem , Masculino , Gravidez , Ultrassonografia Pré-Natal
4.
Bone Marrow Transplant ; 22(2): 193-6, 1998 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-9707029

RESUMO

A 43-year-old woman with Philadelphia chromosome (Ph) positive chronic myelogenous leukemia in acute phase received high-dose chemotherapy followed by transfusion of 12 randomly selected units of umbilical cord blood. HLA analysis showed cells of one donor from day +10 to day +43 post-transfusion. This unit was HLA class II identical with that of the patient.


Assuntos
Transplante de Células-Tronco Hematopoéticas , Leucemia Mielogênica Crônica BCR-ABL Positiva/terapia , Adulto , Feminino , Sangue Fetal/citologia , Transplante de Tecido Fetal , Sobrevivência de Enxerto , Teste de Histocompatibilidade , Humanos , Transplante Homólogo
8.
J Perinatol ; 13(5): 354-60, 1993.
Artigo em Inglês | MEDLINE | ID: mdl-8263619

RESUMO

An automated amniotic fluid surfactant-albumin ratio (SAR) test was performed as a screening test for pregnancies requiring fetal pulmonary maturity testing. Of the 178 neonates delivered within 3 days of the testing, respiratory distress syndrome (RDS) developed in 21 (11.8%) and transient tachypnea of the newborn infant (TTN) in 11 (6.1%). A positive test was defined as one which predicted RDS or TTN. Sensitivity was interpreted as the proportion of neonates with RDS or TTN detected by SAR less than 70 mg/gm. Sensitivity was 90.7% with a specificity of 76.1%. The positive predictive value was 45.3%; the negative predictive value 97.4%. The interassay coefficient of variability was 3.5%. The SAR test has proven to be a rapid, precise laboratory tool. Our combined testing protocol uses the SAR as an initial screening test with the lecithin/sphingomyelin ratio used as backup if the SAR did not predict maturity (SAR < 70 mg/gm). This protocol has markedly lowered the use of lecithin/sphingomyelin ratios while maintaining necessary clinical accuracy.


Assuntos
Albuminas/análise , Líquido Amniótico/química , Maturidade dos Órgãos Fetais , Pulmão/embriologia , Surfactantes Pulmonares/análise , Idade Gestacional , Humanos , Recém-Nascido , Valor Preditivo dos Testes , Curva ROC , Transtornos Respiratórios/diagnóstico , Síndrome do Desconforto Respiratório do Recém-Nascido/diagnóstico , Sensibilidade e Especificidade
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