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Placode and neural crest origins of congenital deafness in mouse models of Waardenburg-Shah syndrome.
iScience
January 2025
Department of Regenerative Medicine and Cell Biology, Medical University of South Carolina, Charleston, SC 29425, USA.
Mutations in the human genes encoding the endothelin ligand-receptor pair and cause Waardenburg-Shah syndrome (WS4), which includes congenital hearing impairment. The current explanation for auditory dysfunction is defective migration of neural crest-derived melanocytes to the inner ear. We explored the role of endothelin signaling in auditory development in mice using neural crest-specific and placode-specific mutation plus related genetic resources.
View Article and Find Full Text PDFDuplication of the common bile duct associated with dorsal pancreas agenesis: a diagnostic enigma and a major therapeutic turning point.
J Surg Case Rep
January 2025
Department of General Surgery, Mohammed VI University Hospital, Oujda, Morocco.
We present a pioneering case of a duplication of the common bile duct associated with agenesis of the dorsal pancreas in a 66-year-old man. After an episode of cholestatic jaundice, radiological investigations revealed complex vascular and biliary anomalies, redefining the therapeutic strategy. Instead of risky surgery, endoscopic biliopancreatic drainage resolved the symptoms.
View Article and Find Full Text PDFEvaluation of Neutrophil Elastase Inhibitors as Potential Therapies for Associated Neutropenia.
J Cell Immunol
January 2024
Department of Medicine, University of Washington, Seattle, Washington, U.S.A.
Neutrophil elastase () mutations are the most common cause of cyclic (CyN) and congenital neutropenia (SCN), two autosomal dominant disorders causing recurrent infections due to impaired neutrophil production. Granulocyte colony-stimulating factor (G-CSF) corrects neutropenia but has adverse effects, including bone pain and in some cases, an increased risk of myelodysplasia (MDS) and acute myeloid leukemia (AML). Hematopoietic stem cell transplantation is an alternative but is limited by its complications and donor availability.
View Article and Find Full Text PDFAssociation of hip dysplasia in newborns with ethnicity using graf method ultrasound.
Pak J Med Sci
January 2025
Muhammad Ashfaq, MCPS, FCPS, CHPE (JSMU) Pediatric Medicine, National Institute of Child Health Karachi, Pakistan.
Objectives: To determine gender and ethnic distribution of developmental dysplasia of hip in newborns using Graf method for ultrasound. To determine the significance of association between developmental dysplasia of hip with ethnicity in newborns using Graf's method ultrasound.
Method: This analytical cross-sectional observational study was conducted in Karachi from January through June 2022 .
Predicting outcomes with compounding comorbidities - Left-sided congenital diaphragmatic hernia complicated by pre-viable premature rupture of the membranes: A case report.
Case Rep Womens Health
March 2025
Westmead Hospital, New South Wales, Australia.
This case report describes the difficulty in predicting the outcomes for a fetus affected with both left-sided congenital diaphragmatic hernia and second-trimester pre-viable rupture of membranes. Despite the reserved prognosis at the time of diagnosis, a favourable outcome was obtained. The case highlights the relevance of established prognosticators such as the observed/expected lung/head ratio and also underscores the importance of balanced counselling and providing parents with realistic expectations and appropriate support.
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