Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0029089 (ophthalmoplegia)
 3,338 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Ultrastructural investigation of bone marrow histiocytes in neurovisceral storage disorder associated with vertical ophthalmoplegia revealed 3 types of cytosomes: (1) lamellar cytosomes; (2) larger cytosomes composed of lamellar fragments and a granular component; and (3) large irregular cytosomes with amorphous and granular portions, often including fingerprint profiles--in some of these, lysosome-like bodies were numerous. The lamellar cytosomes corresponded to vacuoles seen by light microscopy. The Type 2 and 3 cytosomes were the ultrastructural substract of Wright-Giemsa stained blue granules. Histiocytes having a predominance of Type 2 cytosomes in a cytoplasm rich in free ribosomes had the appearance of sea-blue histiocytes at the light-microscopic level. Transformed Type 1 cytostomes served as building blocks for Type 2 and 3 cytosomes. In the sural nerve, Schwann cells and endoneurial fibroblasts accumulated autofluorescent lipopigment but no lamellar cytosomes or their fragments were found on electron-microscopic examination. Ultrastructure of sea-blue histiocytes in this disease differed from that observed in some other diseases.
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PMID:Sea-blue histiocytes and sural nerve in neurovisceral storage disorder with vertical ophthalmoplegia. 115 47

We present a direct anterior sternal split expansion as a surgical option for a case of severe Thoracic Insufficiency Syndrome (TIS) in an arthrogryposis-like patient. This patient's clinical features were published as a newly described syndrome: Adam Robert Wright Syndrome. The patient born with this syndrome displays characteristic craniofacial abnormalities, severe thoracic insufficiency syndrome, cleft palate, limb contractures, arthrogryposis, pulmonary hypoplasia, cryptorchidism, ophthalmoplegia and retinopathy, with normal intelligence. His severe thoracic insufficiency necessitated an urgent life-saving surgical intervention for a progressively worsening sleep apnoea and respiratory distress. We present a review of published data of sternal expansion thoracoplasty from 1965 to 2007 found in the literature. We demonstrate that direct anterior sternal split thoracoplasty with autogenous rib grafts is an effective technique for the acute management of thoracic insufficiency syndrome in this specific case. This procedure provided our patient with symptomatic benefit. To our knowledge, this is the only reported surgical management of thoracic insufficiency syndrome demonstrating a statistical improvement in chest wall compliance and tidal volume. We show that direct anterior sternal split expansion is a surgical treatment option in some patients with thoracic insufficiency syndrome. Our surgical strategy for the management of severe thoracic insufficiency syndrome in Adam Robert Wright Syndrome provided symptomatic relief and favourable long-term results.
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PMID:Autogenous bone graft for expansion thoracoplasty in Adam Robert Wright syndrome: a case report and review. 2042 50