Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0033377 (prolapse)
 11,717 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The present report describes clinical variability in an affected dizygotic twin pair. Twin 1 showed classical features of the congenital myasthenic syndromes (CMS), that is, ptosis, dysphonia, asthenia and hypotonia. In twin 2, these clinical signs were less pronounced, but subtle resulting in severe lumbar hyperlordosis. Molecular analysis, performed for both twins, revealed the presence of three polymorphisms in the heterozygous form in RAPSN gene. The present report highlights the clinical variability of the CMS.
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PMID:Congenital familial myasthenic syndromes: disease and course in an affected dizygotic twin pair. 2336 76

The orbicularis oculi are the sphincter muscles of the eyelids and are involved in modulating facial expression. They differ from both limb and extraocular muscles (EOMs) in their histology and biochemistry. Weakness of the orbicularis oculi muscles is a feature of neuromuscular disorders affecting the neuromuscular junction, and weakness of facial muscles and ptosis have also been described in patients with mutations in the ryanodine receptor gene. Here, we investigate human orbicularis oculi muscles and find that they are functionally more similar to quadriceps than to EOMs in terms of excitation-contraction coupling components. In particular, they do not express the cardiac isoform of the dihydropyridine receptor, which we find to be highly expressed in EOMs where it is likely responsible for the large depolarization-induced calcium influx. We further show that human orbicularis oculi and EOMs express high levels of utrophin and low levels of dystrophin, whereas quadriceps express dystrophin and low levels of utrophin. The results of this study highlight the notion that myotubes obtained by explanting satellite cells from different muscles are not functionally identical and retain the physiological characteristics of their muscle of origin. Furthermore, our results indicate that sparing of facial and EOMs in patients with Duchenne muscular dystrophy is the result of the higher levels of utrophin expression.
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PMID:Functional characterization of orbicularis oculi and extraocular muscles. 2706 19

Subconjunctival fat prolapse is a rare benign entity or disease presenting as fat containing epibulbar mass in lateral canthus region. Weakness of Tenon's capsule secondary to age, trauma or any surgery leads to herniation of intraconal fat. Radiologists should be aware of the condition and its imaging features. We report a case of 70-year-old obese man presenting with bilateral soft yellowish lateral canthal mass. Computed Tomography (CT) and Magnetic Resonance Imaging (MRI) showed typical imaging features of epibulbar fatty lesion in continuation with the intraconal fat.
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PMID:Subconjunctival Fat Prolapse: What Radiologists Need to Know? 2889 4


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