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Neslihan Tekin - One of the best experts on this subject based on the ideXlab platform.

  • isolated Congenital Diaphragm Hernia associated with homozygous slit3 gene variant in dizygous twins
    European Journal of Medical Genetics, 2021
    Co-Authors: Tugba Barsan Kaya, Ozge Aydemir, Serdar Ceylaner, Gulay Ceylaner, Neslihan Tekin
    Abstract:

    Abstract Congenital Diaphragmatic Hernia (CDH) is a serious life-threatening birth defect characterized by abnormal development in the muscular or tendinous portion of the Diaphragm during embryogenesis. Despite its high incidence, the etiology of CDH hasn't been fully understood. Genetic factors are important in pathogenesis; however, few single genes have been definitively implicated in human CDH. SLIT1, SLIT2, and SLIT3 (slit guidance ligand) are three human homologs of the drosophila Slit gene. They interact with roundabout (Robo) homolog receptors to affect cell migration, adhesion, cell motility, and angiogenesis and play important roles in cell signaling pathways including the guidance of axons. In this report, we presented dizygous twin babies with CDH related to the SLIT3 gene variant. Previous studies showed that Slit3 null mice had Congenital Diaphragmatic Hernias on or near the ventral midline portion of the central tendon. This is the first report of homozygous SLIT3 variant associated with CDH in humans.

Murat Yurdakök - One of the best experts on this subject based on the ideXlab platform.

  • Outcomes of Cases of Prenatally-Diagnosed Congenital Pulmonary Airway Malformation.
    Revista brasileira de ginecologia e obstetricia : revista da Federacao Brasileira das Sociedades de Ginecologia e Obstetricia, 2019
    Co-Authors: Mehmet Sinan Beksac, Erdem Fadiloglu, Atakan Tanacan, Canan Unal, Neslihan Bayramoglu Tepe, Emine Aydin, Gokcen Orgul, Murat Yurdakök
    Abstract:

    Objective To evaluate the outcomes of cases of prenatally-diagnosed Congenital pulmonary airway malformation (CPAM). Methods We retrospectively evaluated cases of prenatally-diagnosed CPAM between 2004 and 2018. Ultrasonographic features such as visualization of a fetal lung mass and heterogeneous pulmonary parenchyma were used for CPAM diagnosis. Prenatal and postnatal findings were compared in terms of accuracy regarding the CPAM diagnosis. Results The sample consisted of 27 cases. There were four cases in which the patients opted for the termination of pregnancy due to the severity of the lesion. A total of 23 neonates were delivered, and CPAM was confirmed in 15 cases. The median gestational age at delivery was 37 weeks (28-40 weeks) and the mean birth weight was 2,776 g. There were two neonatal deaths, one due to pneumothorax, and the other due to hypoplastic left heart syndrome (HLHS). A total of five patients with respiratory problems were operated in the postpartum period. There were eight misdiagnosis: bronchopulmonary sequestration (five cases), Congenital lobar emphysema (two cases), and Congenital Diaphragm Hernia (one case). Conclusion A precise postnatal diagnosis is very important to organize the proper management of the pregnancies with fetuses with CPAM. The positive predictive value of the prenatal diagnosis of CPAM via ultrasonography is of 70.3%. The differential diagnosis of CPAM may be prolonged to the postpartum period in some cases.

Tugba Barsan Kaya - One of the best experts on this subject based on the ideXlab platform.

  • isolated Congenital Diaphragm Hernia associated with homozygous slit3 gene variant in dizygous twins
    European Journal of Medical Genetics, 2021
    Co-Authors: Tugba Barsan Kaya, Ozge Aydemir, Serdar Ceylaner, Gulay Ceylaner, Neslihan Tekin
    Abstract:

    Abstract Congenital Diaphragmatic Hernia (CDH) is a serious life-threatening birth defect characterized by abnormal development in the muscular or tendinous portion of the Diaphragm during embryogenesis. Despite its high incidence, the etiology of CDH hasn't been fully understood. Genetic factors are important in pathogenesis; however, few single genes have been definitively implicated in human CDH. SLIT1, SLIT2, and SLIT3 (slit guidance ligand) are three human homologs of the drosophila Slit gene. They interact with roundabout (Robo) homolog receptors to affect cell migration, adhesion, cell motility, and angiogenesis and play important roles in cell signaling pathways including the guidance of axons. In this report, we presented dizygous twin babies with CDH related to the SLIT3 gene variant. Previous studies showed that Slit3 null mice had Congenital Diaphragmatic Hernias on or near the ventral midline portion of the central tendon. This is the first report of homozygous SLIT3 variant associated with CDH in humans.

Mehmet Sinan Beksac - One of the best experts on this subject based on the ideXlab platform.

  • Outcomes of Cases of Prenatally-Diagnosed Congenital Pulmonary Airway Malformation.
    Revista brasileira de ginecologia e obstetricia : revista da Federacao Brasileira das Sociedades de Ginecologia e Obstetricia, 2019
    Co-Authors: Mehmet Sinan Beksac, Erdem Fadiloglu, Atakan Tanacan, Canan Unal, Neslihan Bayramoglu Tepe, Emine Aydin, Gokcen Orgul, Murat Yurdakök
    Abstract:

    Objective To evaluate the outcomes of cases of prenatally-diagnosed Congenital pulmonary airway malformation (CPAM). Methods We retrospectively evaluated cases of prenatally-diagnosed CPAM between 2004 and 2018. Ultrasonographic features such as visualization of a fetal lung mass and heterogeneous pulmonary parenchyma were used for CPAM diagnosis. Prenatal and postnatal findings were compared in terms of accuracy regarding the CPAM diagnosis. Results The sample consisted of 27 cases. There were four cases in which the patients opted for the termination of pregnancy due to the severity of the lesion. A total of 23 neonates were delivered, and CPAM was confirmed in 15 cases. The median gestational age at delivery was 37 weeks (28-40 weeks) and the mean birth weight was 2,776 g. There were two neonatal deaths, one due to pneumothorax, and the other due to hypoplastic left heart syndrome (HLHS). A total of five patients with respiratory problems were operated in the postpartum period. There were eight misdiagnosis: bronchopulmonary sequestration (five cases), Congenital lobar emphysema (two cases), and Congenital Diaphragm Hernia (one case). Conclusion A precise postnatal diagnosis is very important to organize the proper management of the pregnancies with fetuses with CPAM. The positive predictive value of the prenatal diagnosis of CPAM via ultrasonography is of 70.3%. The differential diagnosis of CPAM may be prolonged to the postpartum period in some cases.

Rasih Yazkan - One of the best experts on this subject based on the ideXlab platform.

  • the cause of unexpected acute abdomen and intra abdominal hemorrhage in 24 week pregnant woman bochdalek Hernia
    Case Reports in Surgery, 2016
    Co-Authors: Yavuz Savas Koca, Ibrahim Barut, Ihsan Yildiz, Rasih Yazkan
    Abstract:

    Bochdalek Hernia (BH) is the most common type of Congenital Diaphragm Hernia and is rarely seen in adults. In adult patients, BH often remains asymptomatic or presents with nondiagnostic symptoms and may lead to complications, though rarely. The necrosis and perforations occurring in the Hernia may lead to mortality. In this report, we present a 34-year-old pregnant woman at 24 gestational weeks who presented with Bochdalek Hernia causing gastric volvulus associated with perforation and intra-abdominal hemorrhage associated with splenic rupture.