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Bedii A Salman - One of the best experts on this subject based on the ideXlab platform.

  • left sided congenital Diaphragmatic Hernia associated with intrathoracic ectopic liver lobule
    European Journal of Cardio-Thoracic Surgery, 2002
    Co-Authors: Bedii A Salman
    Abstract:

    A case of intrathoracic ectopia of the left lobe lateral segment of the liver in a patient with left-sided Diaphragmatic Hernia is described. The ectopic liver part was found in the left hemithorax during excision of the Diaphragmatic Hernia sac, but it was not the content of the sac. The ectopic liver part has not been described previously in the left hemithorax and is actually the primary abnormality. The Diaphragmatic Hernia is merely a secondary development through this potential gap on the diaphragm where the pedicle of the ectopic liver lobule passes.

  • case report left sided congenital Diaphragmatic Hernia associated with intrathoracic ectopic liver lobule
    2002
    Co-Authors: Bedii A Salman
    Abstract:

    A case of intrathoracic ectopia of the left lobe lateral segment of the liver in a patient with left-sided Diaphragmatic Hernia is described. The ectopic liver part was found in the left hemithorax during excision of the Diaphragmatic Hernia sac, but it was not the content of the sac. The ectopic liver part has not been described previously in the left hemithorax and is actually the primary abnormality. The Diaphragmatic Hernia is merely a secondary development through this potential gap on the diaphragm where the pedicle of the ectopic liver lobule passes. q 2002 Elsevier Science B.V. All rights reserved.

S.w. Cheung - One of the best experts on this subject based on the ideXlab platform.

  • Congenital Diaphragmatic Hernia in WAGR syndrome.
    American journal of medical genetics. Part A, 2005
    Co-Authors: Daryl A. Scott, M.l. Cooper, Pawel Stankiewicz, Ankita Patel, Lorraine Potocki, S.w. Cheung
    Abstract:

    Wilms tumor, aniridia, genitourinary anomalies, and mental retardation (WAGR) syndrome is a contiguous gene deletion syndrome involving the Wilms tumor 1 gene (WT1), the paired box gene 6 (PAX6), and possibly other genes on chromosome 11p13. WT1 is required for normal formation of the genitourinary system and the high incidence of Wilms tumor and genitourinary anomalies found in patients with WAGR are attributed to haploinsufficiency of this gene. It has been hypothesized that WT1 also plays an important role in the development of the diaphragm. During mammalian embryonic development, WT1 is expressed in the pleural and abdominal mesothelium that forms part of the diaphragm. Furthermore, mice that are homozygous for a deletion in the mouse homolog of WT1 have Diaphragmatic Hernias. Case reports describing congenital Diaphragmatic Hernias in infants with Denys–Drash and Frasier syndromes, both of which can be caused by mutations in WT1, provide additional support for this hypothesis. We report an infant with aniridia, bilateral cryptorchidism, vesicoureteral reflux, and a right-sided Morgagni-type Diaphragmatic Hernia. G-banded chromosome analysis revealed a deletion of 11p12-p15.1. Breakpoint regions were refined by fluorescence in situ hybridization (FISH) and deletion of the WAGR critical region, including WT1, was confirmed. A review of the medical literature identified a second patient with a deletion of 11p13, a left-sided Bochdalek-type Diaphragmatic Hernia, and anomalies that suggest a diagnosis of WAGR including bilateral microphthalmia, a small penis, bilateral cryptorchidism, and a hypoplastic scrotum. These cases demonstrate that congenital Diaphragmatic Hernia can be associated with WAGR syndrome and suggest that deletions of WT1 may predispose individuals to develop congenital Diaphragmatic Hernia. © 2005 Wiley-Liss, Inc.

  • congenital Diaphragmatic Hernia in wagr syndrome
    American Journal of Medical Genetics Part A, 2005
    Co-Authors: Daryl A. Scott, M.l. Cooper, Pawel Stankiewicz, Ankita Patel, Lorraine Potocki, S.w. Cheung
    Abstract:

    Wilms tumor, aniridia, genitourinary anomalies, and mental retardation (WAGR) syndrome is a contiguous gene deletion syndrome involving the Wilms tumor 1 gene (WT1), the paired box gene 6 (PAX6), and possibly other genes on chromosome 11p13. WT1 is required for normal formation of the genitourinary system and the high incidence of Wilms tumor and genitourinary anomalies found in patients with WAGR are attributed to haploinsufficiency of this gene. It has been hypothesized that WT1 also plays an important role in the development of the diaphragm. During mammalian embryonic development, WT1 is expressed in the pleural and abdominal mesothelium that forms part of the diaphragm. Furthermore, mice that are homozygous for a deletion in the mouse homolog of WT1 have Diaphragmatic Hernias. Case reports describing congenital Diaphragmatic Hernias in infants with Denys-Drash and Frasier syndromes, both of which can be caused by mutations in WT1, provide additional support for this hypothesis. We report an infant with aniridia, bilateral cryptorchidism, vesicoureteral reflux, and a right-sided Morgagni-type Diaphragmatic Hernia. G-banded chromosome analysis revealed a deletion of 11p12-p15.1. Breakpoint regions were refined by fluorescence in situ hybridization (FISH) and deletion of the WAGR critical region, including WT1, was confirmed. A review of the medical literature identified a second patient with a deletion of 11p13, a left-sided Bochdalek-type Diaphragmatic Hernia, and anomalies that suggest a diagnosis of WAGR including bilateral microphthalmia, a small penis, bilateral cryptorchidism, and a hypoplastic scrotum. These cases demonstrate that congenital Diaphragmatic Hernia can be associated with WAGR syndrome and suggest that deletions of WT1 may predispose individuals to develop congenital Diaphragmatic Hernia.

Lorraine Potocki - One of the best experts on this subject based on the ideXlab platform.

  • Congenital Diaphragmatic Hernia in WAGR syndrome.
    American journal of medical genetics. Part A, 2005
    Co-Authors: Daryl A. Scott, M.l. Cooper, Pawel Stankiewicz, Ankita Patel, Lorraine Potocki, S.w. Cheung
    Abstract:

    Wilms tumor, aniridia, genitourinary anomalies, and mental retardation (WAGR) syndrome is a contiguous gene deletion syndrome involving the Wilms tumor 1 gene (WT1), the paired box gene 6 (PAX6), and possibly other genes on chromosome 11p13. WT1 is required for normal formation of the genitourinary system and the high incidence of Wilms tumor and genitourinary anomalies found in patients with WAGR are attributed to haploinsufficiency of this gene. It has been hypothesized that WT1 also plays an important role in the development of the diaphragm. During mammalian embryonic development, WT1 is expressed in the pleural and abdominal mesothelium that forms part of the diaphragm. Furthermore, mice that are homozygous for a deletion in the mouse homolog of WT1 have Diaphragmatic Hernias. Case reports describing congenital Diaphragmatic Hernias in infants with Denys–Drash and Frasier syndromes, both of which can be caused by mutations in WT1, provide additional support for this hypothesis. We report an infant with aniridia, bilateral cryptorchidism, vesicoureteral reflux, and a right-sided Morgagni-type Diaphragmatic Hernia. G-banded chromosome analysis revealed a deletion of 11p12-p15.1. Breakpoint regions were refined by fluorescence in situ hybridization (FISH) and deletion of the WAGR critical region, including WT1, was confirmed. A review of the medical literature identified a second patient with a deletion of 11p13, a left-sided Bochdalek-type Diaphragmatic Hernia, and anomalies that suggest a diagnosis of WAGR including bilateral microphthalmia, a small penis, bilateral cryptorchidism, and a hypoplastic scrotum. These cases demonstrate that congenital Diaphragmatic Hernia can be associated with WAGR syndrome and suggest that deletions of WT1 may predispose individuals to develop congenital Diaphragmatic Hernia. © 2005 Wiley-Liss, Inc.

  • congenital Diaphragmatic Hernia in wagr syndrome
    American Journal of Medical Genetics Part A, 2005
    Co-Authors: Daryl A. Scott, M.l. Cooper, Pawel Stankiewicz, Ankita Patel, Lorraine Potocki, S.w. Cheung
    Abstract:

    Wilms tumor, aniridia, genitourinary anomalies, and mental retardation (WAGR) syndrome is a contiguous gene deletion syndrome involving the Wilms tumor 1 gene (WT1), the paired box gene 6 (PAX6), and possibly other genes on chromosome 11p13. WT1 is required for normal formation of the genitourinary system and the high incidence of Wilms tumor and genitourinary anomalies found in patients with WAGR are attributed to haploinsufficiency of this gene. It has been hypothesized that WT1 also plays an important role in the development of the diaphragm. During mammalian embryonic development, WT1 is expressed in the pleural and abdominal mesothelium that forms part of the diaphragm. Furthermore, mice that are homozygous for a deletion in the mouse homolog of WT1 have Diaphragmatic Hernias. Case reports describing congenital Diaphragmatic Hernias in infants with Denys-Drash and Frasier syndromes, both of which can be caused by mutations in WT1, provide additional support for this hypothesis. We report an infant with aniridia, bilateral cryptorchidism, vesicoureteral reflux, and a right-sided Morgagni-type Diaphragmatic Hernia. G-banded chromosome analysis revealed a deletion of 11p12-p15.1. Breakpoint regions were refined by fluorescence in situ hybridization (FISH) and deletion of the WAGR critical region, including WT1, was confirmed. A review of the medical literature identified a second patient with a deletion of 11p13, a left-sided Bochdalek-type Diaphragmatic Hernia, and anomalies that suggest a diagnosis of WAGR including bilateral microphthalmia, a small penis, bilateral cryptorchidism, and a hypoplastic scrotum. These cases demonstrate that congenital Diaphragmatic Hernia can be associated with WAGR syndrome and suggest that deletions of WT1 may predispose individuals to develop congenital Diaphragmatic Hernia.

Daryl A. Scott - One of the best experts on this subject based on the ideXlab platform.

  • Congenital Diaphragmatic Hernia in WAGR syndrome.
    American journal of medical genetics. Part A, 2005
    Co-Authors: Daryl A. Scott, M.l. Cooper, Pawel Stankiewicz, Ankita Patel, Lorraine Potocki, S.w. Cheung
    Abstract:

    Wilms tumor, aniridia, genitourinary anomalies, and mental retardation (WAGR) syndrome is a contiguous gene deletion syndrome involving the Wilms tumor 1 gene (WT1), the paired box gene 6 (PAX6), and possibly other genes on chromosome 11p13. WT1 is required for normal formation of the genitourinary system and the high incidence of Wilms tumor and genitourinary anomalies found in patients with WAGR are attributed to haploinsufficiency of this gene. It has been hypothesized that WT1 also plays an important role in the development of the diaphragm. During mammalian embryonic development, WT1 is expressed in the pleural and abdominal mesothelium that forms part of the diaphragm. Furthermore, mice that are homozygous for a deletion in the mouse homolog of WT1 have Diaphragmatic Hernias. Case reports describing congenital Diaphragmatic Hernias in infants with Denys–Drash and Frasier syndromes, both of which can be caused by mutations in WT1, provide additional support for this hypothesis. We report an infant with aniridia, bilateral cryptorchidism, vesicoureteral reflux, and a right-sided Morgagni-type Diaphragmatic Hernia. G-banded chromosome analysis revealed a deletion of 11p12-p15.1. Breakpoint regions were refined by fluorescence in situ hybridization (FISH) and deletion of the WAGR critical region, including WT1, was confirmed. A review of the medical literature identified a second patient with a deletion of 11p13, a left-sided Bochdalek-type Diaphragmatic Hernia, and anomalies that suggest a diagnosis of WAGR including bilateral microphthalmia, a small penis, bilateral cryptorchidism, and a hypoplastic scrotum. These cases demonstrate that congenital Diaphragmatic Hernia can be associated with WAGR syndrome and suggest that deletions of WT1 may predispose individuals to develop congenital Diaphragmatic Hernia. © 2005 Wiley-Liss, Inc.

  • congenital Diaphragmatic Hernia in wagr syndrome
    American Journal of Medical Genetics Part A, 2005
    Co-Authors: Daryl A. Scott, M.l. Cooper, Pawel Stankiewicz, Ankita Patel, Lorraine Potocki, S.w. Cheung
    Abstract:

    Wilms tumor, aniridia, genitourinary anomalies, and mental retardation (WAGR) syndrome is a contiguous gene deletion syndrome involving the Wilms tumor 1 gene (WT1), the paired box gene 6 (PAX6), and possibly other genes on chromosome 11p13. WT1 is required for normal formation of the genitourinary system and the high incidence of Wilms tumor and genitourinary anomalies found in patients with WAGR are attributed to haploinsufficiency of this gene. It has been hypothesized that WT1 also plays an important role in the development of the diaphragm. During mammalian embryonic development, WT1 is expressed in the pleural and abdominal mesothelium that forms part of the diaphragm. Furthermore, mice that are homozygous for a deletion in the mouse homolog of WT1 have Diaphragmatic Hernias. Case reports describing congenital Diaphragmatic Hernias in infants with Denys-Drash and Frasier syndromes, both of which can be caused by mutations in WT1, provide additional support for this hypothesis. We report an infant with aniridia, bilateral cryptorchidism, vesicoureteral reflux, and a right-sided Morgagni-type Diaphragmatic Hernia. G-banded chromosome analysis revealed a deletion of 11p12-p15.1. Breakpoint regions were refined by fluorescence in situ hybridization (FISH) and deletion of the WAGR critical region, including WT1, was confirmed. A review of the medical literature identified a second patient with a deletion of 11p13, a left-sided Bochdalek-type Diaphragmatic Hernia, and anomalies that suggest a diagnosis of WAGR including bilateral microphthalmia, a small penis, bilateral cryptorchidism, and a hypoplastic scrotum. These cases demonstrate that congenital Diaphragmatic Hernia can be associated with WAGR syndrome and suggest that deletions of WT1 may predispose individuals to develop congenital Diaphragmatic Hernia.

Prem Puri - One of the best experts on this subject based on the ideXlab platform.

  • congenital Diaphragmatic Hernia
    Seminars in Pediatric Surgery, 2010
    Co-Authors: Richard Keijzer, Prem Puri
    Abstract:

    Congenital Diaphragmatic Hernia (CDH) is a congenital anomaly consisting of a posterolateral defect in the diaphragm also known as a Bochdalek Hernia. It occurs in 1 in 2000 to 3000 newborns and is associated with a variable degree of pulmonary hypoplasia (PH) and persistent pulmonary hypertension (PPH). Despite remarkable advances in neonatal resuscitation and intensive care and the new postnatal treatment strategies, many newborns with CDH continue to have high rates of mortality and morbidity as the result of severe respiratory failure secondary to PH and PPH. The pathogenesis of CDH and associated PH and PPH is poorly understood. Herein, we aim to review diaphragm and pulmonary development and correlate this to the abnormalities found in CDH.