14 research outputs found
Novel mutation of PPOX gene in a patient with abdominal pain and syndrome of inappropriate antidiuresis
Purpose: Acute porphyrias are metabolic disorders of heme biosynthesis characterized by acute life-threatening attacks. The diagnosis is often missed since clinical presentation is aspecific mimicking other medical and surgical conditions. Variegate porphyria (VP) is an autosomal dominant inherited disease with incomplete penetrance due to decreased activity of the Protoporphyrinogen Oxydase (PPOX) gene; most VP mutations are family specific. We report the case of a 40 year-old woman who presented many times to the emergency department complaining of unexplained abdominal pain and laboratory investigations showed repeatedly hyponatremia. Syndrome of inappropriate antidiuresis (SIAD) was confirmed and measurement of urine porphobilinogen and delta-aminolevulinic acid disclosed the diagnosis of acute porphyria. The genetic analysis of PPOX gene was performed. Methods: The entire coding sequence and exon/intron boundaries of PPOX gene were amplified in 5 different Polymerase Chain Reaction (PCR) fragments. In silico prediction of the pathogenicity of the mutation was determined by using different tools, Polyphen2, SNPs&GO, SNPs3D. Results: The genetic analysis of PPOX gene revealed a novel missense variant c.1376 G > A (p.Cys459Tyr) in heterozygous state. The same variant was later found in one of her cousins with skin lesions and other three younger asymptomatic relatives. We provided evidence that this novel mutation is likely to be pathogenetic. Conclusions: Our case highlights the importance of considering VP in the differential diagnosis of SIAD and underlines the role of genetic screening in the management of such patients. The finding of a novel mutation of PPOX gene in our index case has allowed to recognize an affected family
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Knowledge for developent: university-firm interaction in sub-Saharan Africa: the case of Uganda: working papers
AugustThe Research on Knowledge Systems (RoKS) 2006 competition provided funding that has opened up a new field and delineated the contours of a research agenda in relation to the changing role of the university in sub-Saharan Africa. Governments in developing countries are increasingly imitating developed countries, by adopting policy, incentives and programmes aimed to promote linkages between universities and firms. In sub-Saharan Africa, with the largest number of low-income countries, there is evidence to suggest that policy-borrowing to promote university-industry linkages is occurring, but in a manner that does not take sufficient cognizance of the specifics of the local context and conditions, which may have unintended deleterious consequences. There is as yet not a great deal of research on the changing role of universities, but what does exist often engages with the challenges in aspirational and normative ways. There has been little systematic analysis of the conditions of universities, firms and their potential for interaction to contribute to growth and development in the low income countries of sub-Saharan Africa. Such concerns inspired a study to examine systematically how university-firm interaction contributes to national development goals in three countries at different stages of development in sub-Saharan Africa, namely Nigeria, Uganda and South Africa. The study was also conducted in nine other countries, in Latin America (Brazil, Costa Rica, Argentina and Mexico) and Asia (Korea, China, India, Malaysia and Thailand), providing a basis for systematic comparative work across countries of the South
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Analysis of the National System of Innovation in Nigeria: context and emerging trends
Working paper, Apri
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Interactions between universities and firms: results of the survey of Nigerian manufacturing firms
Working paper, Apri
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Knowledge for development: university-firm interaction in sub-Saharan Africa: final report
Augus