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Extreme Phenotypic Variation in Siblings with Identical Homozygous Mutations Causing ADA2 Deficiency: A Case Series.
Turk J Haematol
January 2025
Hacettepe University, Faculty of Medicine, Department of Pediatric Hematology, Ankara, Türkiye.
Interpreting Variants of Uncertain Significance in PCD: Abnormal Splicing Caused by a Missense Variant of DNAAF3.
Mol Genet Genomic Med
January 2025
The State Key Laboratory for Complex Severe and Rare Diseases, the State Key Sci-Tech Infrastructure for Translational Medicine, Peking Union Medical College Hospital, Beijing, China.
Background: Primary ciliary dyskinesia (PCD) is a rare autosomal recessive disorder characterized by dysfunction of motile cilia. While approximately 50 genes have been identified, around 25% of PCD patients remain genetically unexplained; elucidating the pathogenicity of specific variants remains a challenge.
Methods: Whole exome sequencing (WES) and Sanger sequencing were conducted to identify potential pathogenic variants of PCD.
The elusive bipartite scaphoid: a rare congenital variant or misdiagnosed pseudoarthrosis? A proposal for novel radiological criteria.
Folia Morphol (Warsz)
January 2025
Department of Orthopedics and Traumatology, University Hospital Queen Giovanna-ISUL, Medical University of Sofia, Sofia, Bulgaria.
Variations in the development of carpal bones are uncommon, with the scaphoid bone typically forming from the fusion of the os centrale carpi and the radial chondrification center during embryogenesis. A bipartite scaphoid is a rare congenital disorder that occurs when these ossification centers fail to fuse, with a prevalence ranging from 0.1% to 0.
View Article and Find Full Text PDFSurgical treatment of congenital pseudarthrosis of the Tibia in children: CPAM-LRC consensus and guidelines.
Int J Surg
January 2025
Department of Orthopedics, Shanghai Sixth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Purpose: Congenital pseudarthrosis of the tibia (CPT) is a rare condition typically manifesting within the first decade of life. The primary objectives of surgical intervention for CPT include achieving long-term bony union of the tibia, preventing or minimizing limb length discrepancies (LLD), avoiding mechanical axis deviations of the tibia and adjacent joints, and preventing refracture. This study aims to conduct a systematic review of current treatment methods for CPT to determine the most effective non-surgical and surgical management strategies for pediatric patients with this condition.
View Article and Find Full Text PDFFungal keratitis caused by : a case report.
Front Med (Lausanne)
December 2024
Department of Ophthalmology, Ningbo Yinzhou No.2 Hospital, Ningbo Urology and Nephrology Hospital, Ningbo, Zhejiang, China.
Background: We report a rare case of fungal keratitis caused by , a filamentous fungus that is widely distributed in soil and graminaceous plants.
Case Presentation: A 40-year-old Mongoloid male patient came to our outpatient clinic with painful swelling of the left eye and redness, after being cut by a tree branch 1 week prior. After examination, the patient was diagnosed with a corneal ulcer of the left eye, and was given levofloxacin eye drops and levofloxacin ophthalmic gel.
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