Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0700208 (scoliosis)
 8,574 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Full field of view coronal chest magnetic resonance imaging (MRI) routinely displays bilateral images of the brachial plexus, surface anatomy, and anatomic structures. Eighty patients had chest radiographs correlated with surgery for thoracic outlet syndrome. The PA chest film findings correlated with the surgical findings: smaller thoracic inlet on the concave side of the cervicothoracic spine scoliosis, shorter distance between the dorsal spine of the second or third thoracic vertebral body to the concavity of the first ribs, asymmetric clavicles and coracoid processes, synchondrosis of the first and second ribs, and muscle atrophy on the side of the clinical complaints. More than 235 patients were imaged. One hundred sixty-five of these were imaged with a 1.5-T unit and 3-D reconstruction MRI. Coronal, transverse (axial), oblique transverse, and sagittal plane T1-weighted, selected T2-weighted, and fast spine echo pulse sequences were obtained, 4- to 5-mm slice thickness, 40 to 45 cm full field of view, 512 x 256 matrix and 2 NEX. Two-dimensional time of flight (2D TOF), magnetic resonance angiography (MRA) sequences were obtained in selected patients. Coronal, transverse, and sagittal sequences were reformatted for evaluation. Saline water bags were placed between the neck and thorax to enhance the signal-to-noise ratio. Compromising abnormalities of the brachial plexus were confirmed at surgery. Compromise of the neurovascular supply seemed to be one etiology that could be demonstrated. The clinical history, technique, and anatomic bilateral brachial plexus imaging is stressed to improve patient care. The cervical rib is one of the compromising brachial plexopathies selected for this presentation.
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PMID:The anatomy of the brachial plexus as displayed by magnetic resonance imaging: technique and application. 763 95

'Salt & Pepper' syndrome is an autosomal recessive condition characterized by severe intellectual disability, epilepsy, scoliosis, choreoathetosis, dysmorphic facial features and altered dermal pigmentation. High-density SNP array analysis performed on siblings first described with this syndrome detected four shared regions of loss of heterozygosity (LOH). Whole-exome sequencing narrowed the candidate region to chromosome 2p11.2. Sanger sequencing confirmed a homozygous c.994G>A transition (p.E332K) in the ST3GAL5 gene, which encodes for a sialyltransferase also known as GM3 synthase. A different homozygous mutation of this gene has been previously associated with infantile-onset epilepsy syndromes in two other cohorts. The ST3GAL5 enzyme synthesizes ganglioside GM3, a glycosophingolipid enriched in neural tissue, by adding sialic acid to lactosylceramide. Unlike disorders of glycosphingolipid (GSL) degradation, very little is known regarding the molecular and pathophysiologic consequences of altered GSL biosynthesis. Glycolipid analysis confirmed a complete lack of GM3 ganglioside in patient fibroblasts, while microarray analysis of glycosyltransferase mRNAs detected modestly increased expression of ST3GAL5 and greater changes in transcripts encoding enzymes that lie downstream of ST3GAL5 and in other GSL biosynthetic pathways. Comprehensive glycomic analysis of N-linked, O-linked and GSL glycans revealed collateral alterations in response to loss of complex gangliosides in patient fibroblasts and in zebrafish embryos injected with antisense morpholinos that targeted zebrafish st3gal5 expression. Morphant zebrafish embryos also exhibited increased apoptotic cell death in multiple brain regions, emphasizing the importance of GSL expression in normal neural development and function.
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PMID:A mutation in a ganglioside biosynthetic enzyme, ST3GAL5, results in salt & pepper syndrome, a neurocutaneous disorder with altered glycolipid and glycoprotein glycosylation. 2402 81