Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/j.hlc.2010.02.005 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Epiphora associated with anomalies of the distal end of the nasolacrimal duct in children over 12 months: endoscopic findings and treatment.
Arq Bras Oftalmol
January 2025
Department of Ophthalmology, Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo, Ribeirão Preto, SP, Brazil.
Purpose: Congenital epiphora can be related to anomalies of the nasolacrimal duct. This study aimed to assess the distal end of the nasolacrimal duct and the outcomes of endoscopic treatment in children older than 12 months with congenital epiphora.
Methods: This retrospective analysis describes the clinical characteristics, management, and outcomes of symptomatic congenital lacrimal obstruction in 32 lacrimal systems of 23 children.
Combined Klippel-Feil syndrome, Sprengel deformity, and diffuse large B-cell lymphoma: A rare case report.
Radiol Case Rep
March 2025
Loyola University Medical Center and Loyola University Chicago, 2160 S First Ave, Maywood, IL 60153, USA.
Klippel-Feil syndrome (KFS) is a rare congenital disorder characterized by the fusion of cervical vertebrae, with a clinical presentation that can vary widely due to genetic and phenotypic diversity. While KFS can occur as an isolated anomaly, it is often associated with other congenital conditions, such as Sprengel deformity, which may present with or without an omovertebral bone, complicating diagnosis and management. This particular case also involves diffuse large B-cell lymphoma (DLBCL), the most common subtype of non-Hodgkin lymphoma.
View Article and Find Full Text PDFCentral congenital hypothyroidism due to TSHB gene mutation: 25-year follow-up.
BMJ Case Rep
January 2025
Endocrinology Department, Sri Ramachandra Institute of Higher Education and Research, Chennai, India
TSHB gene mutation results in isolated central congenital hypothyroidism (iCCH). Often diagnosed late, mild neurocognitive impairment is common despite thyroxine initiation. We discuss a female term neonatal presenting with prolonged unconjugated hyperbilirubinaemia.
View Article and Find Full Text PDFImpact and mechanism of the TBX-22 gene mutation G874A on the epithelial-mesenchymal transition in medial edge epithelial cells.
In Vitro Cell Dev Biol Anim
January 2025
Department of Oral and Maxillofacial Surgery, Shandong Provincial Hospital Affiliated to Shandong First Medical University, Jinan, 250012, Shandong, China.
Cleft lip and palate (CL/P) are prevalent congenital anomalies with complex genetic causes. The G874A mutation of T-box transcription factor 22 (TBX-22) gene is notably associated with CL/P, while the underlying mechanism remains to be clarified. Studies have shown that the restriction of epithelial-mesenchymal transformation (EMT) process in medial edge epithelial cells (MEEs) is crucial for CL/P development.
View Article and Find Full Text PDFRNA-sequencing unveils FLT4 splice site variants in variable congenital heart disease.
Eur J Hum Genet
January 2025
Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
The etiology of congenital heart disease (CHD) is complex, comprising both genetic and environmental factors. Despite documented familial occurrences, the genetic etiology remains largely elusive. Trio exome sequencing identified a heterozygous FLT4 splice site variant in two families with respectively tetralogy of Fallot (TOF), and variable CHD comprising both the TOF spectrum and aortic coarctation.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!