scholarly journals Warfarin-Associated Diaphragmatic Hernia: An Unusual Diagnosis

2015 ◽  
Vol 2015 ◽  
pp. 1-3
Author(s):  
Cristina Vilhena ◽  
Cátia Gameiro ◽  
Cláudia Tomás ◽  
Antónia Santos ◽  
Raquel Ilgenfritz
Keyword(s):  
Diaphragmatic Hernia ◽  
Pectus Excavatum ◽  
Pulmonary Hypoplasia ◽  
Obese Woman ◽  
Facial Dysmorphism ◽  
Ultrasonographic Diagnosis ◽  
Wide Range ◽  
Warfarin Embryopathy

Fetal warfarin syndrome is a consequence of maternal intake of warfarin during pregnancy and comprises a wide range of manifestations, including some typical facial dysmorphologic features. The authors report a case of prenatal ultrasonographic diagnosis of warfarin embryopathy in an obese woman on unsupervised warfarin prophylaxis at the 16th week of gestation. The fetus presented with facial dysmorphism, pectus excavatum, diaphragmatic hernia, and pulmonary hypoplasia. To the best of our knowledge, this is the second reported case of warfarin-associated diaphragmatic hernia.

Diaphragmatic Hernia

1983 ◽  
Vol 4 (8) ◽  
pp. 244-266
Keyword(s):  
Intensive Care ◽  
Pulmonary Arterial Hypertension ◽  
Diaphragmatic Hernia ◽  
Neonatal Intensive Care ◽  
Pulmonary Hypoplasia ◽  
Thoracic Cavity ◽  
Hemodynamic Changes ◽  
Life Threatening ◽  
Pulmonary Arterial ◽  
Immediate Surgery

In spite of the availability of almost immediate surgery and neonatal intensive care, congenital diaphragmatic hernia is a life-threatening anomaly in the newborn. It is the result of early embryologic malformation or failure of fusion of the components of the diaphragm allowing for the displacement of the abdominal contents into the thoracic cavity. There is consequent compression of the lung which may result in pulmonary hypoplasia or compression of the cardiovascular structures resulting in deleterious hemodynamic changes. Hypoxia and acidosis result in the presentation of respiratory distress and cyanosis. This is frequently associated with pulmonary arterial hypertension with right to left shunting through fetal circuits.

scholarly journals Congenital Diaphragmatic Hernia in Neonate: Experience in a Teaching Hospital

1970 ◽  
Vol 7 (1) ◽  
pp. 28-30 ◽  
Author(s):  
SE Khan ◽  
AKMZ Siddiq ◽  
M Nessa
Keyword(s):  
Pulmonary Hypertension ◽  
Congenital Diaphragmatic Hernia ◽  
Diaphragmatic Hernia ◽  
Birth Defect ◽  
Pulmonary Hypoplasia ◽  
Good Prognosis ◽  
Military Hospital ◽  
Paediatric Surgery ◽  
Stabilization Phase ◽  
Abdominal Route

Introduction: Congenital diaphragmatic hernia (CDH) is one of the major surgical causes of respiratory distress in neonates. Reported survival averages 60% but may be significantly lower. Pulmonary hypertension and pulmonary hypoplasia are recognised as two corner stones of the pathophysiology of CDH. Objective: Objective of the study was to evaluate the outcome of this birth defect in Bangladesh situation. Method: This retrospective study was carried out at the Department of Paediatric Surgery of Combined Military Hospital, Dhaka over a period of five years. During this period a total of 8 neonates of CDH were admitted in this hospital. All the data were collected from record sheet and were compiled. Result: Age of patients ranged from 1 day to 20 days. Out of 8 neonates 5 (62.50%) were male and 3 (37.50%) were female. All patients were diagnosed postnatally. All the 8 neonates had Bochdalek type of CDH. Seven patients (87.50%) had left sided hernia. Two patients (25%) died before operation in the stabilization phase while on ventilator and 6 (75%) were operated. Out of these 6 patients, 5 (left sided) were operated through abdominal route and 1 (right sided) was approached through thorax. Overall outcome was satisfactory in 5 neonates and one died. Conclusion: Early intervention can result good prognosis in CDH. Key words: Congenital diaphragmatic hernia; neonate; Bochdalek type DOI: http://dx.doi.org/10.3329/jafmc.v7i1.8623 JAFMC Bangladesh. Vol 7, No 1 (June) 2011; 28-30  

scholarly journals Amniotic fluid stem cell extracellular vesicles promote fetal lung branching and cell differentiation in experimental congenital diaphragmatic hernia

2022 ◽  
Author(s):  
Kasra Khalaj ◽  
Rebeca Lopes Figueira ◽  
Lina Antounians ◽  
Sree Gandhi ◽  
Matthew Wales ◽  
...  
Keyword(s):  
Amniotic Fluid ◽  
Congenital Diaphragmatic Hernia ◽  
Extracellular Vesicles ◽  
Diaphragmatic Hernia ◽  
Lung Development ◽  
Pulmonary Hypoplasia ◽  
Fetal Lung ◽  
Branching Morphogenesis ◽  
Neuroendocrine Cells ◽  
Beta Catenin

Pulmonary hypoplasia secondary to congenital diaphragmatic hernia (CDH) is characterized by impaired branching morphogenesis and differentiation. We have previously demonstrated that administration of extracellular vesicles derived from rat amniotic fluid stem cells (AFSC-EVs) rescues development of hypoplastic lungs at the pseudoglandular and alveolar stages in rodent models of CDH. Herein, we tested whether AFSC-EVs exert their regenerative effects at the canalicular and saccular stages, as these are translationally relevant for clinical intervention. To induce fetal pulmonary hypoplasia, we gavaged rat dams with nitrofen at embryonic day 9.5 and demonstrated that nitrofen-exposed lungs had impaired branching morphogenesis, dysregulated signaling pathways relevant to lung development (FGF10/FGFR2, ROBO/SLIT, Ephrin, Neuropilin 1, beta-catenin) and impaired epithelial and mesenchymal cell marker expression at both stages. AFSC-EVs administered to nitrofen-exposed lung explants rescued airspace density and increased the expression levels of key factors responsible for branching morphogenesis. Moreover, AFSC-EVs rescued the expression of alveolar type 1 and 2 cell markers at both canalicular and saccular stages, and restored markers of club, ciliated epithelial, and pulmonary neuroendocrine cells at the saccular stage. AFSC-EV treated lungs also had restored markers of lipofibroblasts and PDGFRA+ cells to control levels at both stages. EV tracking showed uptake of AFSC-EV RNA cargo throughout the fetal lung and an mRNA-miRNA network analysis identified that several miRNAs responsible for regulating lung development processes were contained in the AFSC-EV cargo. These findings suggest that AFSC-EV based therapies hold potential for restoring fetal lung growth and maturation in babies with pulmonary hypoplasia secondary to CDH.

Abnormalities of the Fetal Chest

2019 ◽  
Author(s):  
Karen M. Davidson
Keyword(s):  
Congenital Diaphragmatic Hernia ◽  
Airway Obstruction ◽  
Diaphragmatic Hernia ◽  
Pulmonary Hypoplasia ◽  
Abnormal Development ◽  
Neurenteric Cyst ◽  
Congenital Pulmonary Airway Malformation ◽  
Bronchopulmonary Sequestration ◽  
Lung Agenesis ◽  
Pulmonary Airway

The normal and abnormal development of the organs lying within the fetal thorax is discussed.  The abnormalities reviewed include more common findings of pulmonary hypoplasia, congenital diaphragmatic hernia, congenital pulmonary airway malformation, bronchopulmonary sequestration, as well as the rarer conditions of congenital fetal hydrothorax, congenital high airway obstruction syndrome, bronchogenic cysts, neurenteric cysts, and lung agenesis.  With each abnormality, the clinical implications for the fetus, best methods for prenatal diagnosis, as well as possible additional anomalies, syndromes, and aneuploidies are described.  In utero and postnatal treatments are also reviewed.   This review contains 10 figures, and 37 references. Key Words: Pulmonary hypoplasia, lung-head ratio, congenital diaphragmatic hernia, congenital pulmonary airway malformation, congenital fetal hydrothorax, bronchopulmonary sequestration, congenital high airway obstruction syndrome, bronchogenic cyst, neurenteric cyst, lung agenesis

Abnormalities of the Fetal Chest

2019 ◽  
Author(s):  
Karen M. Davidson
Keyword(s):  
Congenital Diaphragmatic Hernia ◽  
Airway Obstruction ◽  
Diaphragmatic Hernia ◽  
Pulmonary Hypoplasia ◽  
Abnormal Development ◽  
Neurenteric Cyst ◽  
Congenital Pulmonary Airway Malformation ◽  
Bronchopulmonary Sequestration ◽  
Lung Agenesis ◽  
Pulmonary Airway

The normal and abnormal development of the organs lying within the fetal thorax is discussed.  The abnormalities reviewed include more common findings of pulmonary hypoplasia, congenital diaphragmatic hernia, congenital pulmonary airway malformation, bronchopulmonary sequestration, as well as the rarer conditions of congenital fetal hydrothorax, congenital high airway obstruction syndrome, bronchogenic cysts, neurenteric cysts, and lung agenesis.  With each abnormality, the clinical implications for the fetus, best methods for prenatal diagnosis, as well as possible additional anomalies, syndromes, and aneuploidies are described.  In utero and postnatal treatments are also reviewed.   This review contains 10 figures, and 37 references. Key Words: Pulmonary hypoplasia, lung-head ratio, congenital diaphragmatic hernia, congenital pulmonary airway malformation, congenital fetal hydrothorax, bronchopulmonary sequestration, congenital high airway obstruction syndrome, bronchogenic cyst, neurenteric cyst, lung agenesis

Complex Small Supernumerary Marker Chromosome Leading to Partial 4q/21q Duplications: Clinical Implication and Review of the Literature

2018 ◽  
Vol 156 (4) ◽  
pp. 173-178 ◽  
Author(s):  
Fernanda T. Bellucco ◽  
Rodrigo A. Fock ◽  
Hélio R. de Oliveira-Júnior ◽  
Ana B. Perez ◽  
Maria I. Melaragno
Keyword(s):  
Genetic Counseling ◽  
Developmental Delay ◽  
Clinical Implication ◽  
Marker Chromosome ◽  
Accurate Diagnosis ◽  
Facial Dysmorphism ◽  
Review Of The Literature ◽  
Small Supernumerary Marker Chromosome ◽  
Wide Range ◽  
Similar Phenotype

Complex small marker chromosomes (sSMCs) consist of chromosomal material derived from more than 1 chromosome. Complex sSMCs derived from chromosomes 4 and 21 are rare, with only 7 cases reported. Here, we describe a patient who presented with a complex sSMC derived from a maternal translocation between chromosomes 4 and 21, which was revealed by G-banding, MLPA, and array techniques. The marker chromosome der(21)t(4;21)(q32.1; q21.2)mat is composed of a 25.6-Mb 21pterq21.2 duplication and a 32.1-Mb 4q32.1q35.2 duplication. In comparison to patients with sSMCs derived from chromosomes 4 and 21, our patient showed a similar phenotype with neuropsychomotor developmental delay and facial dysmorphism as the most important finding, being a composition of the findings found in pure 4q and 21q duplications. The wide range of phenotypes associated with sSMCs emphasizes the importance of detailed cytogenomic analyses for an accurate diagnosis, prognosis, and genetic counseling.

scholarly journals The transcriptome of nitrofen-induced pulmonary hypoplasia in the rat model of congenital diaphragmatic hernia

2015 ◽  
Vol 79 (5) ◽  
pp. 766-775 ◽  
Author(s):  
Thomas H. Mahood ◽  
Dina R. Johar ◽  
Barbara M. Iwasiow ◽  
Wayne Xu ◽  
Richard Keijzer
Keyword(s):  
Congenital Diaphragmatic Hernia ◽  
Diaphragmatic Hernia ◽  
Rat Model ◽  
Pulmonary Hypoplasia
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