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2014
Congenital diaphragmatic hernia (CDH) is a relatively common, life-threatening birth defect. We present a family with recurrent CDH-paraesophageal and central-for whom exome sequenc-ing (ES) revealed a frameshift mutation (c.4969_4970insA, p. Ile1657Asnfs*30) in the fibrillin 1 gene (FBN1) that causes Marfan syndrome. A diagnosis of Marfan syndrome had not been considered previously in this family. However, a review of the literature demonstrated that FBN1 mutations have an unusual pattern of CDH in which paraesophageal hernias are particularly common. Subsequent clinical evaluations revealed evidence for ectopia lentis in affected family members supporting a clinical diagnosis of Marfan syndrome. Since only two other cases of familial CDH have been described in association with FBN1 mutations, we investigated an oligogenic hypothesis by examining ES data for deleterious sequence changes in other CDH-related genes. This search revealed putatively deleterious sequence changes in four other genes that have been shown to cause diaphragm defects in humans and/or mice-FREM1, DES, PAX3 and MET. It is unclear whether these changes, alone or in aggregate, are contributing to the development of CDH in this family. However, their individual contribution is likely to be small compared to that of the frameshift mutation in FBN1. We conclude that ES can be used to identify both major and minor genetic factors that may contribute to CDH. These results also suggest that ES should be considered in the diagnostic evaluation of individuals and families with CDH, particularly when other diagnostic modalities have failed to reveal a molecular etiology.
European Journal of Human Genetics
Array comparative genomic hybridization in patients with congenital diaphragmatic hernia: mapping of four CDH-critical regions and sequencing of candidate genes at 15q26.1–15q26.22006 •
BMC Veterinary Research
Concomitant Congenital Diaphagmatic Hernia (CDH) and bilateral bacterial glomerulonephritis in a pet chinchilla (Chinchilla lanigera)2021 •
Background The domestic chinchilla has been descended from Chinchilla lanigera (long-tailed Chinchilla) or Chinchilla chinchilla (short-tailed Chinchilla). Both species of chinchilla are currently listed as endangered by the IUCN Red List of Threatened Species. Over the past 20 years, they have spread as pets and overall knowledge about their care is improving. The present case report describes a congenital diaphragmatic hernia in a Chinchilla lanigera. Case presentation A 1-year-old, 420 g female chinchilla (Chinchilla lanigera) was presented for clinical examination due to 2 days haematuria episodes and anorexia. A complete haematological analysis was performed, showing a moderate neutrophilia and severe renal involvement. X-rays showed severe intestinal meteorism affecting mostly the cecum, and a soft tissue density mass with translucent areas located in the caudal thorax, making it hard to distinguish the cardiac silhouette. A barium swallow (barium sulfate) was performed and af...
The article deals with anorectal malformation, which is a congenital anomaly in animals. This malformation is often combined with other birth defects and requires comprehensive diagnosis in patients. Congenital malformations of the gastrointestinal tract are quite rare. Carrying out complex diagnostics before each stage of surgical treatment will allow to determine a certain method and technique of surgical correction and will allow to save a part of the intestine. According to the results of this study, the incidence of anal atresia was observed more in females and in certain breeds of dogs. Due to the low number and limitation of diagnostic information, it was difficult to correlate the result with the type of anal atresia. In the diagnosis took part 69 females and 36 males, the gender of 14 dogs was not recorded. According to the records, females were found more often than males. The age range was 8 to 24 weeks (43%), 2 to 8 weeks (42%), and 0 to 2 weeks (15%). Five dogs were bet...
American Journal of Medical Genetics Part A
Characterization of the chromosome 1q41q42.12 region, and the candidate gene DISP1, in patients with CDH2010 •
Veterinary Radiology
Congenital Peritoneopericardial Diaphragmatic Hernia in the Dog and Cat: A Literature Review and 17 Additional Case Histories1980 •
Journal of medical genetics
Genomic alterations that contribute to the development of isolated and non-isolated congenital diaphragmatic hernia2011 •
Congenital diaphragmatic hernia (CDH) is a life threatening birth defect. Most of the genetic factors that contribute to the development of CDH remain unidentified.
American Journal of Medical Genetics Part A
Congenital diaphragmatic hernia and a complex heart defect in association with Wolf-Hirschhorn syndrome2010 •
Journal of Pediatric Surgery
The natural history of congenital diaphragmatic hernia and pulmonary hypoplasia in the embryo1993 •
International Journal of Mental Health Systems
Service users’ perspectives in the design of an online tool for assisted self-help in mental health: a case study of implications2014 •
2011 •
ABCS Health Sciences
Contribuições de testes de tempo de reação para avaliações do comportamento motor e da saúde: software E-Prime®2014 •
2018 •
Vestígios - Revista Latino-Americana de Arqueologia Histórica
Reflexões sobre a Arqueologia da Diáspora Africana no Brasil2013 •
Journal of the Association for Information Science and Technology
Knowledge creation and the concept of a human being: A phenomenological approach2014 •
2021 •
2021 •
Lecture Notes in Computer Science
3D Layout Propagation to Improve Object Recognition in Egocentric Videos2015 •
Micro & Nano Letters
Optical properties of TiO2 nanorod/PMMA bilayered film and the application for anti-reflection2017 •
Journal of Eye and Ophthalmology
Evaluation of the inner-retinal cells survival after low duration laser treatment measured by electroretinogram in patient with diabetic retinopathy2017 •
Archives of Iranian Medicine
The Iranian Study of Opium and Cancer (IROPICAN): Rationale, Design, and Initial Findings2021 •
HortScience
Two Nandina domestica Cultivars Perform Well as Interior Foliage Plants in Market Evaluations1993 •
Revista Internacional de Educación Emocional y Bienestar
Optimización Prosocial: Un Camino Seguro Para La Educación y El Bienestar EmocionalBehavioral Ecology and Sociobiology
Should the redstart Phoenicurus phoenicurus accept or reject cuckoo Cuculus canorus eggs?2005 •
Trends in Ecology & Evolution
Megafaunal extinction: climate, humans and assumptions2006 •
Nature Microbiology
Co-occurring genomic capacity for anaerobic methane and dissimilatory sulfur metabolisms discovered in the Korarchaeota2019 •
2021 •
2013 •
Industrial & Engineering Chemistry Research
Kinetics and Reactor Modeling of a High Temperature Water−Gas Shift Reaction (WGSR) for Hydrogen Production in a Packed Bed Tubular Reactor (PBTR)2008 •
IFIP Advances in Information and Communication Technology
Predicting Innovation Acceptance by Simulation in Virtual Environments (Theoretical Foundations)2009 •