149 research outputs found

    Application of energy management coupled with fuel switching on a hydrotreater unit

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    AbstractIn the last decades, saving energy and protecting environment became the most important topics for search and survey. The energy engineer for any chemical process is obliged by restrictions of “Kyoto Protocol” for limitation of carbon dioxide emissions from fuel combustion, so he does his best to reduce utility consumption and thus reduce gas emission. Proper designing of the heat exchanger network (HEN) for any process is an effective and successful method to minimize utility consumption and therefore minimize gas emission (mainly carbon gases (CO2) and sulfur gases (SOx)). Fuel switching coupled with energy targeting achieved the least gas emission. In this work we choose a hydrotreater unit of a petroleum refinery as a case study due to its effective role and its obvious consumption of utility. We applied the methodology of energy targeting through HEN design (using pinch technology) at several values of mean temperature difference (ΔTmin); where the maximum percentage of energy saving was 37% for hot and cold utility which directly leads to percentage reduction of gas emission by 29% for CO2 and 17% for SOx. Switching fuel oil to other types of fuel realized gas emission reduction percentage where the maximum reduction established was through natural gas fuel type and reached 54% for CO2 and 90% for SOx. Comparison between existing design and the optimum ΔTmin HEN led to few modifications with the least added capital cost for the hydrotreater existing design to revamp it through four scenarios; the first one depended on fuel switching to natural gas while the second one switched fuel to diesel oil, in the third scenario we applied heat integration only and the fourth one used both of heat integration and fuel switching in a parallel way

    Adult case of partial trisomy 9q

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    Background: \ud Complete and partial trisomy 9 is the fourth most common chromosomal disorder. It is also associated with various congenital characteristics affecting the cranio-facial, skeletal, central nervous, gastrointestinal, cardiac and renal systems. Very few cases have been reported in adults. Partial trisomy 9q is also associated with short stature, poor growth and growth hormone deficiency. This is the first reported case of an extensive endocrinology investigation of short stature in trisomy 9q and the outcome of growth hormone treatment.\ud \ud Case Presentation: \ud The case involves a 23-year-old female of pure partial trisomy 9q. The case involves a 23-year old female with pure partial trisomy 9q involving a duplication of 9q22.1 to q32, de novo, confirmed by genetic studies using fluorescene in situ hybridization (FISH) method. The diagnosis was at 6 years of age. She did not demonstrate all the congenital morphologies identified with trisomy 9q disorders especially in relation to multi-organ morphologies. There is also a degree of associated intellectual impairment. At prepuberty, she was referred for poor growth and was diagnosed with partial growth hormone deficiency. She responded very well to treatment with growth hormone and is currently living an independent life with some support.\ud \ud Conclusions: \ud Trisomy 9q is associated with short stature and failure to thrive. Growth hormone deficiency should be identified in cases of trisomy 9q and treatment offered. This is the first reported case of response to growth hormone replacement in partial trisomy 9

    Extending the spectrum of Ellis van Creveld syndrome: a large family with a mild mutation in the EVC gene

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    <p>Abstract</p> <p>Background</p> <p>Ellis-van Creveld (EvC) syndrome is characterized by short limbs, short ribs, postaxial polydactyly, dysplastic nails and teeth and is inherited in an autosomal recessive pattern. We report a family with complex septal cardiac defects, rhizomelic limb shortening, and polydactyly, without the typical lip, dental, and nail abnormalities of EvC. The phenotype was inherited in an autosomal recessive pattern, with one instance of pseudodominant inheritance.</p> <p>Methods</p> <p>Because of the phenotypic overlap with EvC, microsatellite markers were used to test for linkage to the <it>EVC/EVC2 </it>locus. The results did not exclude linkage, so samples were sequenced for mutations.</p> <p>Results</p> <p>We identified a c.1868T>C mutation in <it>EVC</it>, which predicts p.L623P, and was homozygous in affected individuals.</p> <p>Conclusion</p> <p>We conclude that this <it>EVC </it>mutation is hypomorphic and that such mutations can cause a phenotype of cardiac and limb defects that is less severe than typical EvC. <it>EVC </it>mutation analysis should be considered in patients with cardiac and limb malformations, even if they do not manifest typical EvC syndrome.</p

    Extending the spectrum of Ellis van Creveld syndrome: a large family with a mild mutation in the EVC gene

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    <p>Abstract</p> <p>Background</p> <p>Ellis-van Creveld (EvC) syndrome is characterized by short limbs, short ribs, postaxial polydactyly, dysplastic nails and teeth and is inherited in an autosomal recessive pattern. We report a family with complex septal cardiac defects, rhizomelic limb shortening, and polydactyly, without the typical lip, dental, and nail abnormalities of EvC. The phenotype was inherited in an autosomal recessive pattern, with one instance of pseudodominant inheritance.</p> <p>Methods</p> <p>Because of the phenotypic overlap with EvC, microsatellite markers were used to test for linkage to the <it>EVC/EVC2 </it>locus. The results did not exclude linkage, so samples were sequenced for mutations.</p> <p>Results</p> <p>We identified a c.1868T>C mutation in <it>EVC</it>, which predicts p.L623P, and was homozygous in affected individuals.</p> <p>Conclusion</p> <p>We conclude that this <it>EVC </it>mutation is hypomorphic and that such mutations can cause a phenotype of cardiac and limb defects that is less severe than typical EvC. <it>EVC </it>mutation analysis should be considered in patients with cardiac and limb malformations, even if they do not manifest typical EvC syndrome.</p

    Brachydactyly

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    Brachydactyly ("short digits") is a general term that refers to disproportionately short fingers and toes, and forms part of the group of limb malformations characterized by bone dysostosis. The various types of isolated brachydactyly are rare, except for types A3 and D. Brachydactyly can occur either as an isolated malformation or as a part of a complex malformation syndrome. To date, many different forms of brachydactyly have been identified. Some forms also result in short stature. In isolated brachydactyly, subtle changes elsewhere may be present. Brachydactyly may also be accompanied by other hand malformations, such as syndactyly, polydactyly, reduction defects, or symphalangism

    The Experience of Quality in Higher Education in the United Arab Emirates: In Times of Rapid Change and Complexities

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    In less than five decades, from offering formal education only in a few schools to a small tribal community to providing a selection of three public and approximately 100 private higher education institutions to the citizens of seven emirates creates a unique context in the United Arab Emirates (UAE). It is an evolution that corresponds with its remarkable economic growth. Quality assurance of diverse higher educational institutions requires complex schemes to ensure their fitness for purpose, while perhaps development and enhancement aspects need time to mature. The quality of the education is especially important because the UAE yearns for the diversified and knowledge-based economy; one that is led by its own citizens whose contribution to the workforce is currently less than 10%. This chapter highlights contextual complexities in the UAE that might have direct and/or indirect impacts on the quality experiences in the higher education sector, with proposed recommendations

    Consanguinity and reproductive health among Arabs

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    Consanguineous marriages have been practiced since the early existence of modern humans. Until now consanguinity is widely practiced in several global communities with variable rates depending on religion, culture, and geography. Arab populations have a long tradition of consanguinity due to socio-cultural factors. Many Arab countries display some of the highest rates of consanguineous marriages in the world, and specifically first cousin marriages which may reach 25-30% of all marriages. In some countries like Qatar, Yemen, and UAE, consanguinity rates are increasing in the current generation. Research among Arabs and worldwide has indicated that consanguinity could have an effect on some reproductive health parameters such as postnatal mortality and rates of congenital malformations. The association of consanguinity with other reproductive health parameters, such as fertility and fetal wastage, is controversial. The main impact of consanguinity, however, is an increase in the rate of homozygotes for autosomal recessive genetic disorders. Worldwide, known dominant disorders are more numerous than known recessive disorders. However, data on genetic disorders in Arab populations as extracted from the Catalogue of Transmission Genetics in Arabs (CTGA) database indicate a relative abundance of recessive disorders in the region that is clearly associated with the practice of consanguinity

    The Mayer-Rokitansky-Küster-Hauser syndrome (congenital absence of uterus and vagina) – phenotypic manifestations and genetic approaches

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    The Mayer-Rokitansky-KĂĽster-Hauser (MRKH) syndrome affects at least 1 out of 4500 women and has for a long time been considered as a sporadic anomaly. Congenital absence of upper vagina and uterus is the prime feature of the disease which, in addition, is often found associated with unilateral renal agenesis or adysplasia as well as skeletal malformations (MURCS association). The phenotypic manifestations of MRKH overlap various other syndromes or associations and thus require accurate delineation. Since MRKH manifests itself in males, the term GRES syndrome (Genital, Renal, Ear, Skeletal) might be more appropriate when applied to both sexes. The MRKH syndrome, when described in familial aggregates, seems to be transmitted as an autosomal dominant trait with an incomplete degree of penetrance and variable expressivity. This suggests the involvement of either mutations in a major developmental gene or a limited chromosomal deletion. Until recently progress in understanding the genetics of MRKH syndrome has been slow, however, now HOX genes have been shown to play key roles in body patterning and organogenesis, and in particular during genital tract development. Expression and/or function defects of one or several HOX genes may account for this syndrome

    The ever-expanding conundrum of primary osteoporosis: aetiopathogenesis, diagnosis, and treatment

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