We report a 32-year-old woman with an exceptionally large capillary telangiectasia in the brainstem which is associated with a developmental venous anomaly (DVA). Her major problems were nystagmus in both eyes, binocular diplopia, gait abnormalities, cerebellar ataxia, slightly disturbed finger-nose test, an instable Romberg test and obvious dysartria. The diagnosis was made on the basis of specific imaging findings, and the use of gradient echo-weighted images proved to be helpful in making a differential diagnostic decision.
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http://dx.doi.org/10.5334/jbr-btr.670 | DOI Listing |
Annu Rev Immunol
January 2025
1Immunity and Cancer, INSERM U932, PSL University, Institut Curie, Paris, France; email:
Mucosal-associated invariant T (MAIT) cells are evolutionarily conserved T cells that recognize microbial metabolites. They are abundant in humans and conserved during mammalian evolution, which suggests that they have important nonredundant functions. In this article, we discuss the evolutionary conservation of MAIT cells and describe their original developmental process.
View Article and Find Full Text PDFJ Speech Lang Hear Res
January 2025
Center for Autism Services, Science and Innovation, Kennedy Krieger Institute, Baltimore, MD.
Purpose: Despite group-level improvements in active engagement and related outcomes, significant individual variability in response to early intervention exists. The purpose of this preliminary study was to examine the effects of a group-based Naturalistic Developmental Behavioral Intervention (NDBI) on active engagement among a heterogeneous sample of young autistic children in a clinical setting.
Method: Sixty-three autistic children aged 24-60 months ( = 44.
Biol Open
January 2025
Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
Cell fate decisions during cortical development sculpt the identity of long-range connections that subserve complex behaviors. These decisions are largely dictated by mutually exclusive transcription factors, including CTIP2/Bcl11b for subcerebral projection neurons and BRN1/Pou3f3 for intra-telencephalic projection neurons. We have recently reported that the balance of cortical CTIP2-expressing neurons is altered in a mouse model of DDX3X syndrome, a female-biased neurodevelopmental disorder associated with intellectual disability, autism spectrum disorder, and significant motor challenges.
View Article and Find Full Text PDFmBio
January 2025
Centre for Microbiology and Environmental Systems Science, Department of Microbiology and Ecosystem Science, Division of Microbial Ecology, University of Vienna, Vienna, Austria.
Unlabelled: In the gut, microRNAs (miRNAs) produced by intestinal epithelial cells are secreted into the lumen and can shape the composition and function of the gut microbiome. Crosstalk between gut microbes and the host plays a key role in irritable bowel syndrome (IBS) and inflammatory bowel diseases, yet little is known about how the miRNA-gut microbiome axis contributes to the pathogenesis of these conditions. Here, we investigate the ability of miR-21, a miRNA that we found decreased in fecal samples from IBS patients, to associate with and regulate gut microbiome function.
View Article and Find Full Text PDFMol Genet Genomic Med
February 2025
Department of Chemistry and Molecular Biology, Gothenburg University, Gothenburg, Sweden.
Background: SYNGAP1 encodes a Ras/Rap GTPase-activating protein that is predominantly expressed in the brain with the functional roles in regulating synaptic plasticity, spine morphogenesis, and cognition function. Pathogenic variants in SYNGAP1 have been associated with a spectrum of neurodevelopmental disorders characterized by developmental delays, intellectual disabilities, epilepsy, hypotonia, and the features of autism spectrum disorder. The aim of this study was to identify a novel SYNGAP1 gene variant linked to neurodevelopmental disorders and to evaluate the pathogenicity of the detected variant.
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