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A Case of a Newborn Presenting With a VACTERL-Like Association.
Cureus
December 2024
Family Medicine, Louisiana State University Health Sciences Center, Alexandria, USA.
The VACTERL (vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula, renal anomalies, and limb abnormalities) association represents an enigmatic syndrome requiring further study. This report describes a full-term neonate born to a multiparous woman who was found, upon further examination, to have multiple congenital abnormalities, including a bicuspid aortic valve, patent foramen ovale, tracheoesophageal fistula (TEF), asymmetric crying facies, microphallus, and a single inguinal testis. The discussion explores environmental and genetic factors that may contribute to this association, as well as similar conditions, such as CHARGE (coloboma, heart defects, choanal atresia, growth retardation, genital abnormalities, and ear abnormalities) syndrome.
View Article and Find Full Text PDFMorphometric analysis of the C1-2 zygapophysial joint in atlantoaxial dislocation patients with sandwich fusion of the craniovertebral junction.
Neurosurg Rev
January 2025
Department of Orthopaedics, Peking University Third Hospital, Beijing, China.
The combination of congenital C1 occipitalization and C2-3 non-segmentation (i.e. "sandwich fusion") results in early development of atlantoaxial dislocation (AAD).
View Article and Find Full Text PDFEffect analysis of unilateral deaf adults wearing bone-conduction hearing aids: A case report.
J Otol
October 2024
Department of Otolaryngology Head and Neck Surgery, Chinese PLA General Hospital, Beijing, China.
The prevalence of unilateral deafness (SSD) or asymmetric hearing loss (AHL) among patients with hearing impairments ranges from 7.2% to 15.0%, indicating a relatively significant proportion.
View Article and Find Full Text PDFBreaking Left-Right Symmetry by the Interplay of Planar Cell Polarity, Calcium Signaling and Cilia.
Cells
December 2024
Laboratoire de Biologie du Développement, LBD, CNRS UMR7622, INSERM U1156, Sorbonne Université, F-75005 Paris, France.
The formation of the embryonic left-right axis is a fundamental process in animals, which subsequently conditions both the shape and the correct positioning of internal organs. During vertebrate early development, a transient structure, known as the left-right organizer, breaks the bilateral symmetry in a manner that is critically dependent on the activity of motile and immotile cilia or asymmetric cell migration. Extensive studies have partially elucidated the molecular pathways that initiate left-right asymmetric patterning and morphogenesis.
View Article and Find Full Text PDFPhosphoribosyl pyrophosphate synthetase 1 () associated retinal degeneration: an international study.
Ophthalmic Genet
January 2025
Department of Ophthalmology, Casey Eye Institute, Oregon Health & Science University, Portland, Oregon, USA.
Introduction: Phosphoribosyl pyrophosphate synthetase 1 () is an X-linked gene critical for nucleotide metabolism. Pathogenic variants cause three overlapping phenotypes: Arts syndrome (severe neurological disease), Charcot-Marie-Tooth type 5 [CMTX5] (peripheral neuropathy), and non-syndromic sensorineural hearing loss (SNHL). Each may be associated with retinal dystrophy.
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