Case Report: The authors report a case of isolated atlas hypoplasia in an 18-month-old infant who experienced delayed motor development confined to the lower extremities, in the absence of other clinical features. Nonetheless, MRI revealed the upper cervical cord to be highly compressed with a high signal intensity lesion apparent at the craniovertebral junction. The patient underwent atlas laminectomy in addition to occipital decompression, resulting in a good neurological recovery.
Discussion: We speculate on the significance of this unique clinical presentation and discuss surgical strategies for this condition.
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http://dx.doi.org/10.1007/s00381-004-1000-9 | DOI Listing |
Biomolecules
January 2025
Department of Clinical and Experimental Medicine, University of Catania, 95123 Catania, Italy.
Background: Despite advances in uveal melanoma (UM) diagnosis and treatment, about 50% of patients develop distant metastases, thereby displaying poor overall survival. Molecular profiling has identified several genetic alterations that can stratify patients with UM into different risk categories. However, these genetic alterations are currently dispersed over multiple studies and several methodologies, emphasizing the need for a defined workflow that will allow standardized and reproducible molecular analyses.
View Article and Find Full Text PDFExp Eye Res
January 2025
Department of Ophthalmology & Visual Science, Eye & ENT Hospital, Shanghai Medical College, Fudan University, Shanghai, 200031, China; NHC Key Laboratory of Myopia, Chinese Academy of Medical Sciences, And Shanghai Key Laboratory of Visual Impairment and Restoration (Fudan University), Shanghai, 200031, China. Electronic address:
The periocular mesenchyme (POM) gives rise to key structures in the ocular anterior segment, and its malformation leads to anterior segment dysgenesis (ASD) with iridocorneal angle (ICA) abnormalities. However, the transcriptional profile of the POM and the regulatory mechanisms governing cell-fate decision during anterior eye and ICA development remain poorly understood. In this study, we performed a comprehensive time-series analysis by sequencing rat anterior ocular samples collected at five consecutive perinatal stages: embryonic days 16.
View Article and Find Full Text PDFBrain Res Bull
January 2025
Department of Radiology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China. Electronic address:
Background: Increasing evidence has documented cortical involvement at all stages of PD. The local vulnerabilities within certain brain regions in PD have been previously demonstrated, whereas its underlying genetic and neurochemical factors remain unclear. This study aims to investigate the spatial spectrum of cortical atrophy in Parkinson's disease (PD) and link these variances in gray matter properties and curvature respectively to putative molecular pathways and neurotransmitter factors.
View Article and Find Full Text PDFBioengineering (Basel)
December 2024
Department of Pathology, University of Yamanashi, Yamanashi 409-3898, Japan.
The latest World Health Organization (WHO) classification of central nervous system tumors (WHO2021/5th) has incorporated molecular information into the diagnosis of each brain tumor type including diffuse glioma. Therefore, an artificial intelligence (AI) framework for learning histological patterns and predicting important genetic events would be useful for future studies and applications. Using the concept of multiple-instance learning, we developed an AI framework named GLioma Image-level and Slide-level gene Predictor (GLISP) to predict nine genetic abnormalities in hematoxylin and eosin sections: , , mutations, promoter mutations, homozygous deletion (CHD), amplification (amp), 7 gain/10 loss (7+/10-), 1p/19q co-deletion, and promoter methylation.
View Article and Find Full Text PDFOrthod Fr
January 2025
5 rue Georges Meynieu, 44300 Nantes, France
Introduction: The relationship between facial asymmetry and cervical anomaly is rarely mentioned in the diagnosis of dento-maxillo-facial orthopaedics. It is regrettable that the study of the cervical spine is often ignored in the etio-pathogenesis of these dysmorphoses, particularly in cases of facial asymmetry.
Objective: The aim is twofold: to encourage orthodontists and maxillofacial surgeons to make a systematic study of the cervical spine in craniofacial dysmorphoses and in particular craniofacial asymmetries, without claiming that they are becoming specialists in cervical spine pathology, and to introduce the necessary training in malformations of this anatomical region as part of the orthodontist specialisation curriculum.
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