19 research outputs found

    Congenital arterial thrombosis in newborn: A case report

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    Neonatal thrombosis is a serious event that can cause mortality or severe morbidity. Although catheters are the most common cause of neonatal thrombosis, spontaneous events can also occur. Arterial thrombosis is very rare and accounts for approximately half of all thrombotic events in neonates. Genetic prothrombotic risk factors may affect the occurence of neonatal thrombosis. In this report, a case of left brachial, radial, and ulnar arterial thrombosis associated with methylene-tetrahydrofolate reductase (MTHFR) gene C677T and A1298C polymorphism heterozygosity is presented. Plasma homocysteine level and other prothrombotic components were normal. Standard heparin, aspirin, vitamin B12, B6 and folic acid were initiated for treatment. However, the left arm of the patient was amputated at the shoulder because its capillary stream could not be observed. We suggest that MTHFR gene C677T and A1298C polymorphism heterozygosity might be investigated in neonates with congenital arterial thrombosis in spite of normal serum homocysteine levels. © Trakya University Faculty of Medicine

    “The Lolelaplap (Marshall Islands) in Us: Sailing West to East (Ralik→Ratak) to These Our Atolls (Aelon Kein Ad) Ad Jolet Jen Anij (Our Blessed Inheritance from God)”

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    This paper discusses the expansion of Oceania through a Marshallese indigenous lens as a focal point. It explains that decolonizing methodologies allows reclaiming of space for mental liberation and reassurement of constitutional rights. It highlights similar occurrences of decolonization practices meeting resistance in the 21st century all while strengthening the human right argument that no human deserves any less than their fellow human brothers and sisters. It argues that an indigenous imagery can only be viewed through an indigenous lens where the researches’ level of purity is retained and unfiltered. It nevertheless argues that Marshallese ethnolinguistics reveal the same cultural practices in America, Judeo-Christianity, and Oceania thus dictating the reality that “we are the same not withstanding one stays here and one there (Bedbedjin Bedbedjen, Bedbedjinma wot Kwe)”. It further explains the importance in these similarities and how Marshallese spirituality predates introduced American Judeo-Christianity despite the latter attempting to marginalize the former. It concludes by stating that Marshallese contributions on the global stage are rooted in that culture of love (IaKwe) which is echoed by the custom(s) revealing the significance of Marshallese validation academically, spiritually, economically, & socially to prevent institutionalized discrimination. This paper ends stating that the agency to know one’s self and how one should fit in the world, is a human right in itself and Marshallese are entitled to this sense of self worth through knowing thy self by thy self where real thinking takes place in one’s own mind as we all live our own lives

    Diagnostic and Management Strategies of Bietti Crystalline Dystrophy: Current Perspectives

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    Bietti crystalline dystrophy (BCD) is a rare, genetically determined chorioretinal dystrophy presenting with intraretinal crystalline deposits and varying degrees of progressive chorioretinal atrophy commencing at the posterior pole. In some cases, there can be concomitant corneal crystals noted first in the superior or inferior limbus. CYP4V2 gene, a member of the cytochrome P450 family is responsible for the disease and more than 100 mutations have been defined thus far. However, a genotype-phenotype correlation has not been established yet. Visual impairment commonly occurs between the second and third decades of life. By the fifth or sixth decade of life, vision loss can become so severe that the patient may potentially become legally blind. Multitudes of multimodal imaging modalities can be utilized to demonstrate the clinical features, course, and complications of the disease. This present review aims to reiterate the clinical features of BCD, update the clinical perspectives with the help of multimodal imaging techniques, and overview its genetic background with future therapeutic approaches
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