Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019045 (hemoglobinopathies)
 2,704 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Towards a goal of using recombinant adeno-associated viruses (AAV) for the gene therapy of hemoglobinopathies we had previously constructed plasmid pAV h beta G psi 1, which contained a human beta-globin-encoding cDNA (HBB) downstream from the P40 promoter of AAV2 DNA [Ohi et al., Gene 89 (1990) 279-282]. Transfection of the plasmid into human 293 cells (embryonal kidney cell line) resulted in the expression of HBB at the mRNA level as well as rescue and replication of the recombinant AAV genome (Ohi et al., ibid.). The present study demonstrates that the replicated recombinant DNA was packaged into an intact virion by transcomplementation with pAV2 or the defective helpers, pAV delta Bam or pAVXB. The recombinant virus could be isolated by equilibrium CsCl density gradient, the density of which was about 1.4 g/cm3. The defective helpers are used to produce wild-type AAV-free recombinant AAV. The recombinant AAV were infectious and expressed chimeric mRNAs containing the HBB sequence in virus-infected 293, KB (oral epidermoid carcinoma cell line) and K562 (human erythroleukemia cell line) cells. The importance of the infectivity and expression of the recombinant AAV in hematopoietic cells is discussed in the context of gene therapy of hemoglobinopathies.
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PMID:Construction and expression of a recombinant adeno-associated virus that harbors a human beta-globin-encoding cDNA. 165 80

Chronic cutaneous ulcers are commonplace in the developing world, especially in rural areas with poor living conditions and often result from the trauma of road-traffic injuries. Chronic cutaneous ulcers may also be due to vascular insufficiency, neuropathy, nodular leprosy, pressure, diabetes, or hemoglobinopathies, or they may be tropical ulcers. If poorly managed, these lesions may undergo malignant transformation. We evaluated the clinical histories and treatment outcomes of patients seen at the University of Calabar Teaching Hospital, between January 2000 and December 2004, who had histologic diagnosis of Marjolin's ulcer, in an attempt to identify risk factors for this problem. The six patients were men, age 30-70 years (mean, 42 years). Trauma was the leading cause of injury leading to ulceration: road-traffic accidents (four patients, 66.7%), fall (one patient, 16.7%), and flame burn (one patient, 16.7%). Most injuries involved the limbs: lower (four patients, 66.7%) and upper (one patient, 16.7%). The histologic diagnosis in all the cases were squamous cell carcinoma and mean latency period from injury to diagnosis of malignancy was 18.5 years. All the patients had been admitted because of poor results from topical treatment. Three patients (50%) were managed with wide excision and skin grafting with the lesions healed. Ignorance as well as economic and sociocultural factors were the underlying issues. Education concerning the risks associated with chronic wounds and the need for prompt and proper surgical management are recommended.
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PMID:Marjolin's ulcer: the importance of surgical management of chronic cutaneous ulcers. 1795 27