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1.
Congenit Anom (Kyoto) ; 61(4): 118-126, 2021 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-33583092

RESUMO

We studied 27 cases that were post or prenatally diagnosed with body stalk anomaly (BSA) using medical records of prenatal ultrasound findings, pregnancy outcomes, and fetal/neonatal prognosis during 1992 to 2018. Termination of pregnancy was chosen in 15 cases. Of the remaining 12 cases, seven were stillbirths and five were live births. Of seven stillbirths, intrauterine fetal demise occurred before onset of labor in four cases at 17 to 20th weeks of pregnancy. Pregnancy was continued in eight cases. Median gestational age of delivery was 33rd weeks of pregnancy. Median birth weight was 1198 g (range:482-1914 g). Vaginal delivery was chosen in six and caesarean delivery in two cases. Among six vaginally delivered cases, three (50%) fetuses were stillborn. All five live born neonates died within a few hours (16-133 minutes). Eighteen cases were confirmed as BSA postnatally by placental examination or autopsy at our hospital. Main prenatal ultrasonographic findings of them were abdominal wall defect (100%), absence of the umbilical cord (72%), abnormal spine (61%), and abnormal legs (50%). The most characteristic prenatal ultrasonography findings of BSA were the absence of free umbilical cord in the amniotic cavity and the presence of abdominal organs into the extraembryonic celom through abdominal wall defects. The autopsy showed severe pulmonary hypoplasia with the median lung/body weight ratio of 0.61% (range:0.34-0.85%). There were no cases of maternal morbidities. Our study provides important information about the pregnancy outcome and the fetal/neonatal outcome of BSA cases for the parents whose fetuses are diagnosed with BSA prenatally.


Assuntos
Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/epidemiologia , Ultrassonografia Pré-Natal , Cordão Umbilical/anormalidades , Adulto , Gerenciamento Clínico , Feminino , Pesquisas sobre Atenção à Saúde , Humanos , Recém-Nascido , Gravidez , Resultado da Gravidez , Segundo Trimestre da Gravidez , Terceiro Trimestre da Gravidez , Ultrassonografia Pré-Natal/métodos
2.
Hum Genome Var ; 7: 32, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-33082983

RESUMO

Fraser syndrome (FS) involves multiple malformations and has a 25% recurrence risk among siblings. However, these malformations are difficult to detect prenatally, hampering prenatal diagnosis. Here, we describe a fetus with FS diagnosed using ultrasonography. Ultrasonography revealed congenital high airway obstruction syndrome and renal agenesis. Syndactyly of both hands and cryptophthalmos were noted postnatally, and the diagnosis was confirmed by genetic analysis, which showed novel compound heterozygous variants of FREM2.

3.
Pregnancy Hypertens ; 7: 39-43, 2017 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-28279446

RESUMO

OBJECTIVE: To investigate the incidence and pregnancy outcomes of superimposed preeclampsia (PE) with or without proteinuria among women with chronic hypertension. METHODS: This retrospective study included 142 women with essential hypertension diagnosed at ⩽20weeks of gestation, managed at a tertiary center. They were divided into three groups (non-PE, PE with proteinuria, and PE without proteinuria) to compare pregnancy outcomes. The non-PE group was further divided into two subgroups (controlled and uncontrolled hypertension). RESULTS: There were 87 women in the non-PE group, 47 in the PE with proteinuria group, and 8 in the PE without proteinuria group. Median gestational age at delivery was 38.7weeks in the non-PE group, 30.4 in the PE with proteinuria group, and 28.4 in the PE without proteinuria group. In three of the women in the PE without proteinuria group, the diagnostic criteria were fulfilled by liver involvement (complicated by thrombocytopenia in one woman). The remaining five women had uteroplacental dysfunction. The 87 women in the non-PE group were divided into a controlled hypertension subgroup of 75 women and uncontrolled hypertension subgroup of 12. The median gestational age at delivery was 39.1weeks in the controlled HT subgroup and 34.1weeks in the uncontrolled hypertension subgroup. The pregnancy outcomes were significantly poorer in the latter group. CONCLUSION: Pregnancy outcomes were unfavorable in both the PE without proteinuria and PE with proteinuria groups. Women with non-PE uncontrolled hypertension also had poor pregnancy outcomes, although their outcomes were better than those of women with PE.


Assuntos
Hipertensão/complicações , Pré-Eclâmpsia/fisiopatologia , Complicações na Gravidez/fisiopatologia , Resultado da Gravidez , Proteinúria/complicações , Adulto , Hipertensão Essencial , Feminino , Idade Gestacional , Humanos , Hipertensão/fisiopatologia , Recém-Nascido , Doenças do Recém-Nascido/epidemiologia , Fígado/fisiopatologia , Pessoa de Meia-Idade , Mortalidade Perinatal , Gravidez , Complicações Cardiovasculares na Gravidez/fisiopatologia , Nascimento Prematuro/epidemiologia , Proteinúria/fisiopatologia , Estudos Retrospectivos , Trombocitopenia/complicações
4.
Analyst ; 141(20): 5747-5752, 2016 Oct 21.
Artigo em Inglês | MEDLINE | ID: mdl-27508283

RESUMO

The development of a stimulated Raman scattering photoacoustic (SRS-PA) spectrometer is presented. In the apparatus, a molecular vibrational mode is excited by the SRS process. The vibrational excitation energy is converted to heat by vibrational relaxation. The volumes around the excited molecules including the surrounding solvent molecules expand by heating, resulting in the generation of an ultrasonic wave. The ultrasonic wave can be used as a molecular-selective signal. Because the ultrasonic wave is scarcely scattered by media, SRS-PA is expected to be applied for obtaining molecular-selective signals from deeply buried samples. In the present study, a SRS-PA spectrometer was developed and applied to obtain molecular-selective signals from test samples. The SRS-PA signals from water and lipid, which are important components in biological systems, were first obtained. The SRS-PA signal from a polystyrene film buried in a highly light-scattering intralipid suspension was also measured. We succeeded in obtaining the signal from the film when it was buried with a depth of up to 1.8 mm. The results indicate that SRS-PA can be effectively applied for the chemical-contrast imaging of deeply buried samples.

5.
Clin Case Rep ; 4(4): 320-2, 2016 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-27099717

RESUMO

In patients with bloody amniotic fluid, expectant management for chronic abruption is difficult and should not be applied except after a 48-h waiting period required for administration of steroids.

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