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Congenital Diaphragmatic Hernia [PDF]
Orphanet Journal of Rare Diseases, 2012 Congenital Diaphragmatic Hernia (CDH) is defined by the presence of an orifice in the diaphragm, more often left and posterolateral that permits the herniation of abdominal contents into the thorax. The lungs are hypoplastic and have abnormal vessels that cause respiratory insufficiency and persistent pulmonary hypertension with high mortality.
Rene M. H. Wijnen, Dick Tibboel
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Congenital diaphragmatic hernia
Seminars in Pediatric Surgery, 2010 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).
Richard Keijzer, Prem Puri
+6 more sources
Congenital diaphragmatic hernia [PDF]
European Respiratory Journal, 2011 Infants with congenital diaphragmatic hernia (CDH) have significant mortality and long-term morbidity. Only 60–70% survive and usually those in high-volume centres. The current Task Force, therefore, has convened experts to evaluate the current literature and make recommendations on both the antenatal and post-natal management of CDH.
S. Kotecha +12 more
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Congenital diaphragmatic hernia [PDF]
Emergency Medicine Journal, 2008 A female infant aged 5.5 months of Balkan origin arrived at the emergency department of our hospital with fever of 38.8°C, tachypnoea of 60 breaths per minute, heart rate of 110 beats per minute and oxygen saturation of 100%. The patient was admitted to the Paediatric Clinic and underwent full laboratory and culture tests, which were negative for ...
P Tsikouris, L Guindaglia, A A K Kotis
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Congenital Diaphragmatic Hernia
New England Journal of Medicine, 2017 A baby girl was delivered by cesarean section at 36 weeks of gestation because of an antenatal diagnosis of congenital diaphragmatic hernia.
Megan Sirota, Jared Klein
+12 more sources
Congenital Diaphragmatic Hernia
, 2018 Congenital diaphragmatic hernia (CDH) is characterized by malformation of the diaphragm, allowing for herniation of abdominal contents into the thoracic cavity. The most significant sequelae of this herniation are pulmonary hypoplasia and pulmonary hypertension, both contributing to significant morbidity and mortality.
Nitin Wadhwa, Sabina A. Khan
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Congenital diaphragmatic hernia
Early Human Development, 2014 There is a paucity of level 1 and level 2 evidence for best practice in surgical management of CDH. Antenatal imaging and prognostication is developing. Observed to expected lung-to-head ratio on ultrasound allows better predictive value over simple lung-to-head ratio.
Lisette Leeuwen +2 more
+8 more sources
Trisomy 5p: Long Recognized, Rarely Published‐ Three New Cases and Review of the Literature
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Complete trisomy 5p is a rare chromosomal disorder caused by a duplication of the short arm of chromosome 5. Current data suggest that complete trisomy 5p presents as a distinct clinical syndrome including but not limited to seizures, developmental delays, facial dysmorphisms, failure to thrive, and recurrent respiratory infections.
Gabriela J. Kim +2 more
wiley +1 more source
Current Nationwide Landscape of Cardiac Surgery for Children With Trisomy 18 in Japan
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Despite the increasing number of retrospective cohorts describing successful cardiac surgery for children with trisomy 18, no consensus has been reached among healthcare providers regarding cardiac surgery in Japan. This study provided a benchmark to facilitate consensus building by assessing a nationwide surgical database in Japan. A total of
Shintaro Nemoto +5 more
wiley +1 more source
Mortality Patterns and Phenotypic Clusters in Trisomy 13: A Population‐Based Study From Japan
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Trisomy 13, the third most common autosomal trisomy after trisomy 21 and trisomy 18, is associated with a significantly high infant mortality rate. However, large‐scale studies examining causes of death in trisomy 13 remain scarce. Therefore, we aimed to better understand the mortality patterns.
Narumi Kato +2 more
wiley +1 more source