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  1. Article ; Online: Vein of Galen malformation

    Francisca Calheiros-Trigo / Alexandra Cadilhe / João Reis / Nicole Silva / Almerinda Pereira

    Journal of Pediatric and Neonatal Individualized Medicine, Vol 9, Iss 2, Pp e090217-e

    prenatal diagnosis, postnatal monitoring and treatment

    2020  Volume 090217

    Abstract: Vein of Galen aneurysmal malformation (VGAM) is a very rare congenital vascular malformation. Also known as the “median prosencephalic arteriovenous fistula”, VGAM is a subtype of dural arteriovenous fistula. It is believed that the development of VGAM ... ...

    Abstract Vein of Galen aneurysmal malformation (VGAM) is a very rare congenital vascular malformation. Also known as the “median prosencephalic arteriovenous fistula”, VGAM is a subtype of dural arteriovenous fistula. It is believed that the development of VGAM occurs between weeks 6 and 11 of embryo development. Prenatal diagnosis is based on fetal ultrasound, between the second and third trimesters. Despite prenatal diagnosis, this congenital malformation is associated with high morbidity and mortality. We report the case of a 38-year-old primigravida referred at 32 weeks of gestational age to our Prenatal Diagnosis Unit for a suspected VGAM. The remaining fetal assessment was normal. At 38 weeks, a male newborn weighing 3,825 g was born. The postnatal evaluation confirmed VGAM. Endovascular treatment was performed at 4 and 5 months, without complications. The patient is currently 9 months old and has a normal neurodevelopment.
    Keywords vein of galen aneurysmal malformation ; arteriovenous malformation ; congestive heart failure ; hydrocephalus ; prenatal diagnosis ; endovascular embolization ; Medicine ; R ; Pediatrics ; RJ1-570
    Subject code 610
    Language English
    Publishing date 2020-09-01T00:00:00Z
    Publisher Hygeia Press di Corridori Marinella
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  2. Article ; Online: Single Fetal Death in Monochorionic Twin Pregnancy

    Emídio Vale-Fernandes / Joana Dias / Belandina Gil / Alexandra Cadilhe

    Acta Médica Portuguesa, Vol 30, Iss 2, Pp 148-

    Co-Twin Prognosis and Neonatal Outcome

    2017  Volume 151

    Abstract: The incidence of single fetal death in twin pregnancy varies from 0.5% - 6.8%, leaving the surviving fetus with increased morbi-mortality. The prognosis is worse in monochorionic pregnancies. In addressing these cases it should be noted referral to ... ...

    Abstract The incidence of single fetal death in twin pregnancy varies from 0.5% - 6.8%, leaving the surviving fetus with increased morbi-mortality. The prognosis is worse in monochorionic pregnancies. In addressing these cases it should be noted referral to tertiary center with differentiated perinatal support, induction of fetal lung maturation and termination of pregnancy if there’s loss of fetal well-being or possibility of maternal complications and suspected neurological sequelae in the surviving fetus. The risk of iatrogenic prematurity should always be weighed with the possible consequences arising from the fetus staying in a hostile uterine environment. The authors describe a case of a 32-year-old pregnant woman with monochorionic/diamniotic twin pregnancy diagnosed with death of one of the fetuses due to fetal growth restriction and velamentous insertion of the umbilical cord at 30 weeks of gestation. The couple opted for termination of pregnancy at 33 weeks after documentation of brain changes in the surviving fetus.
    Keywords Fetal Mortality ; Pregnancy Outcome ; Premature Birth ; Twins ; Monozygotic ; Medicine ; R ; Medicine (General) ; R5-920
    Subject code 610
    Language English
    Publishing date 2017-02-01T00:00:00Z
    Publisher Ordem dos Médicos
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  3. Article ; Online: Thoracoscopic Lobectomy for Congenital Pulmonary Airway Malformation with Prenatal Diagnosis

    Catarina Barroso / Andreia Felizes / Ana Raquel Silva / Inês Braga / Marta Gonçalves / Helena Salgado / Augusta Gonçalves / Alexandra Cadilhe / Almerinda Pereira / Maria João Santos / Jorge Correia-Pinto

    Portuguese Journal of Pediatrics, Vol 52, Iss

    2021  Volume 1

    Abstract: INTRODUCTION: Congenital pulmonary airway malformations (CPAM) are increasingly diagnosed in the prenatal period raising concerns on the post-natal management of asymptomatic cases. Favoring early resection are the concepts of better compensatory lung ... ...

    Abstract INTRODUCTION: Congenital pulmonary airway malformations (CPAM) are increasingly diagnosed in the prenatal period raising concerns on the post-natal management of asymptomatic cases. Favoring early resection are the concepts of better compensatory lung growth, and prevention of long-term risk of infection and malignancy. Our aim was to review the results of our conduct over the years, in which we promote early thoracoscopic resection. METHODS: We have analyzed the series of patients with congenital pulmonary malformations submitted to thoracoscopic resection at our department, focusing on the infants with prenatal diagnosis of CPAM. RESULTS: From March 2012 to March 2020, we have performed 24 thoracoscopic pulmonary resections at our department for CPAM, congenital lobar emphysema, pulmonary sequestration, bronchogenic cyst and pleuropulmonary blastoma. Among these, nineteen performed thoracoscopic pulmonary lobectomy, including 14 children with prenatal diagnosis of CPAM that were operated during infancy. In our series of thoracoscopic pulmonary lobectomy, we did not have any perioperative complication. Regarding post-operative complications, we have to report two cases treated conservatively, but none in the subgroup of CPAM with prenatal diagnosis. Median length of stay was three days. In the entire series two patients report recurrent wheezing, whilst in the prenatal diagnosed CPAM subgroup all patients have a completely uneventful follow-up. CONCLUSION: Early thoracoscopic resection of prenatal diagnosed CPAM is safe and should be considered in cases with significant lung (morphological) malformation as the esthetic and clinical outcomes are excellent.
    Keywords Pediatrics ; RJ1-570 ; Medicine (General) ; R5-920
    Subject code 610
    Language English
    Publishing date 2021-02-01T00:00:00Z
    Publisher Sociedade Portuguesa de Pediatria
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  4. Article ; Online: A novel SRY nonsense mutation in a case of Swyer syndrome

    Clara Machado / Angela Pereira / José Matos Cruz / Alexandra Cadilhe / Albina Silva / Almerinda Pereira

    Journal of Pediatric and Neonatal Individualized Medicine, Vol 3, Iss 1, Pp e030107-e

    2014  Volume 030107

    Abstract: Swyer syndrome is a condition in which individuals with one X chromosome and one Y chromosome in each cell have a female appearance. They generally have female external genitalia, a normal uterus and Fallopian tubes, but no functional gonads. Its ... ...

    Abstract Swyer syndrome is a condition in which individuals with one X chromosome and one Y chromosome in each cell have a female appearance. They generally have female external genitalia, a normal uterus and Fallopian tubes, but no functional gonads. Its prevalence is about 1 in 30,000 births. Mutations in the SRY gene have been identified in 15-20% of the cases. The authors present the clinical case of a female fetus, who was the first child of young, healthy, unrelated parents, with increased nuchal translucency in first trimester ultrasonography and combined risk for Down syndrome of 1/20. Prenatal karyotype was 46,XY. Delivery occured at 37 weeks gestation by cesarean section. Uneventful neonatal period. At birth she had adequate weight and height and presented complete female external genitalia with no other abnormalities. Pelvic ultrasound showed normal morphology of the uterus, ovaries were not visualized. Hormonal study was normal. Repeated postnatal karyotype confirmed 46,XY. Follow-up on Neonatology Consultation as outpatient. Abdomino-pelvic MRI (3 months old) showed presence of uterus with normal dimensions and appearance and ovaries not clearly defined. The molecular genetic testing revealed the Q 114X (c.340 C>T) mutation of the SRY gene, a nonsense mutation that as not been described. Early diagnosis of Swyer syndrome in childhood is only possible if a karyotype is carried out for other reasons, such as for example as part of prenatal diagnosis (as it happened with our patient). This prompt diagnosis is important for early institution of hormone replacement therapy and close monitoring, because of the risk of gonadal malignancy. Clinical and imaging surveillance is mandatory in order to program early gonadectomy if necessary. In our patient, the novel mutation detected in the SRY gene may be an aetiopathogenic factor in clinically defined 46,XY complete gonadal dysgenesis.
    Keywords female ; gonads ; karyotype ; mutation ; syndrome ; swyer ; Medicine ; R ; Pediatrics ; RJ1-570
    Subject code 610
    Language English
    Publishing date 2014-01-01T00:00:00Z
    Publisher Hygeia Press di Corridori Marinella
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

    Full text online

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