Objective: The aims of this study were to evaluate sonographically observable fetal cerebellar development by use of MR image and anatomic correlations to determine what aspects of this development can be visualized by sonography and to define the normal sonographic appearance of cerebellar development to assist in the differentiation of normal development from pathologic development during prenatal sonography.
Materials And Methods: The posterior fossae of 19 normal, whole, fixed fetal specimens of 11-21 weeks' gestational age were imaged by sonography and MR imaging. Images were correlated with anatomic atlases and anatomic sections.
Results: By 13-14 weeks, both sonography and MR imaging demonstrated the vermis between the hemispheres rostrally, but the caudal vermis was undeveloped. Although visualized on MR images, the caudal fourth ventricular roof was not yet appreciated on sonograms, giving the false impression of communication between the fourth ventricle and the cisterna magna. Separation of these CSF spaces was not appreciated at all levels sonographically until 16 weeks.
Conclusions: The sonographic appearance of normal cerebellar development can resemble pathology early in the second trimester. Caution is warranted in making an early diagnosis of fetal cerebellar dysgenesis.
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http://dx.doi.org/10.2214/ajr.166.2.8553961 | DOI Listing |
Clin Dysmorphol
December 2024
Department of Pediatric Genetics.
Introduction: Spondyloepimetaphyseal dysplasia with joint laxity type 1 (SEMD-JL1) is an extremely rare skeletal dysplasia belonging to a group of disorders called linkeropathies. It is characterized by skeletal and connective tissue abnormalities. Biallelic variants in genes encoding enzymes that synthesize the tetrasaccharide linker region of glycosaminoglycans lead to linkeropathies, which exhibit clinical and phenotypic features that overlap with each other.
View Article and Find Full Text PDFSci Rep
January 2025
Department of Neurosurgery, The First Affiliated Hospital, School of Medicine, Zhejiang University, No.79 Qingchun Road, Hangzhou, 310003, Zhejiang Province, China.
This study explored the risk factors associated with hydrocephalus incidence and evaluated the effectiveness of surgical treatments in managing this condition. Patients with PBSH were retrospectively evaluated, identifying clinical and radiological characteristics. A multivariate logistic regression model was used for analyses.
View Article and Find Full Text PDFDefects in DNA single-strand break repair are associated with neurodevelopmental and neurodegenerative disorders. One such disorder is that resulting from mutations in , a scaffold protein that plays a central role in DNA single-strand base repair. XRCC1 is recruited at sites of single-strand breaks by PARP1, a protein that detects and is activated by such breaks and is negatively regulated by XRCC1 to prevent excessive PARP binding and activity.
View Article and Find Full Text PDFRadiol Case Rep
March 2025
Department of Psychiatry, Datta Meghe Institute of Medical Sciences, Sawangi, Wardha, Maharashtra 442001, India.
Tic douloureux, also known as trigeminal neuralgia, is distinguished by recurrent episodes of severe, lancinating pain that affects one or more branches of the trigeminal nerve, representing a prevalent pain syndrome. This condition has an annual incidence rate of 27 per 100,000 individuals. Nevertheless, direct compression caused by vertebrobasilar dolichoectasia (VBD) represents a considerably less frequent etiology of trigeminal neuralgia, with an estimated overall incidence of about 1%.
View Article and Find Full Text PDFNeuroimage
January 2025
Department of Nuclear Medicine, University Hospital, LMU Munich, Munich, Germany; German Center for Neurodegenerative Diseases (DZNE) Munich, Munich, Germany. Electronic address:
Aim: Standardized evaluation of [F]PI-2620 tau-PET scans in 4R-tauopathies represents an unmet need in clinical practice. This study aims to investigate the effectiveness of visual evaluation of [F]PI-2620 images for diagnosing 4R-tauopathies and to develop a straight-forward reading algorithm to improve objectivity and data reproducibility.
Methods: A total of 83 individuals with [F]PI-2620 PET scans were included.
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