600 research outputs found

    In situ hybridisation detects pro-apoptotic gene expression of a Bcl-2 family member in white syndrome-affected coral

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    White syndrome has been described as one of the most prolific diseases on the Great Barrier Reef. Previously, apoptotic cell death has been described as the mechanism driving the characteristic rapid tissue loss associated with this disease, but the molecular mechanisms controlling apoptotic cell death in coral disease have yet to be investigated. In situ methods were used to study the expression patterns of 2 distinct regulators of apoptosis in Acropora hyacinthus tissues undergoing white syndrome and apoptotic cell death. Apoptotic genes within the Bcl-2 family were not localized in apparently healthy coral tissues. However, a Bcl-2 family member (bax-like) was found to localize to cells and tissues affected by white syndrome and those with morphological evidence for apoptosis. A potential up-regulation of pro-apoptotic or bax-like gene expression in tissues with apoptotic cell death adjacent to disease lesions is consistent with apoptosis being the primary cause of rapid tissue loss in coral affected by white syndrome. Pro-apoptotic (bax-like) expression in desmocytes and the basal tissue layer, the calicodermis, distant from the disease lesion suggests that apoptosis may also underlie the sloughing of healthy tissues associated with the characteristic, rapid spread of tissue loss, evident of this disease. This study also shows that in situ hybridisation is an effective tool for studying gene expression in adult corals, and wider application of these methods should allow a better understanding of many aspects of coral biology and disease pathology

    An Asymptomatic Case of Wolff-Parkinson-White Syndrome with Right-sided Free-wall Accessory Pathway and Left Ventricular Dysfunction

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    AbstractA 16-year-old girl with a known history of asymptomatic Wolff-Parkinson-White syndrome exhibited signs of left ventricular (LV) septal akinesia and LV dysfunction during routine follow-up. A 12-lead surface ECG showed pre-excitation, a predominantly negative delta wave in V1 and left axis deviation, which was consistent with the presence of a right free-wall accessory pathway. Radiofrequency ablation of the anterolateral right atrium around the local shortest atrium-to-ventricle interval created the accessory pathway block. An echocardiogram taken one month after the procedure revealed that LV septal wall motion had normalized and that LV ejection fraction had improved from 50% before the ablation to 64% after the ablation. Most previous reports of asymptomatic patients of WPW with LV septal dyskinesia and dysfunction have described right septal or posteroseptal accessory pathways. This patient reported here represents a rare case with right free-wall accessory pathway and LV dysfunction without tachycardia

    Pyruvate dehydrogenase E1α deficiency in a family : Different clinical presentation in two siblings

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    The pyruvate dehydrogenase (PDH) complex (PDHc) is responsible for the irreversible conversion of pyruvate to acetyl-CoA. PDHc is a multienzyme complex consisting of three catalytic subunits, pyruvate decarboxylase (E1), dihydrolipoamideacetyltransferase (E2), dihydrolipoamide dehydrogenase (E3), and two regulatorysubunits, E1 kinase and phospho-E1 phosphatase. An abnormal E1asubunit, whosegene is located on the X chromosome, is the most frequent cause of PDH deÐciency. The clinical presentation of a PDH-E1adeÐciency (McKusick 312170) is variable.We have analysed a family with a mutation (36 bp insertion in exon 10) in thePDH-E1agene in which the male member had a diferent and less severe clinicalpicture than his afected sister.Facultad de Ciencias Médica

    Exploring Pompeii: discovering hospitality through research synergy

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    Hospitality research continues to broaden through an ever-increasing dialogue and alignment with a greater number of academic disciplines. This paper demonstrates how an enhanced understanding of hospitality can be achieved through synergy between archaeology, the classics and sociology. It focuses on classical Roman life, in particular Pompeii, to illustrate the potential for research synergy and collaboration, to advance the debate on hospitality research and to encourage divergence in research approaches. It demonstrates evidence of commercial hospitality activities through the excavation hotels, bars and taverns, restaurants and fast food sites. The paper also provides an example of the benefits to be gained from multidisciplinary analysis of hospitality and tourism

    Identification of RNA binding motif proteins essential for cardiovascular development

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    Background We recently identified Rbm24 as a novel gene expressed during mouse cardiac development. Due to its tightly restricted and persistent expression from formation of the cardiac crescent onwards and later in forming vasculature we posited it to be a key player in cardiogenesis with additional roles in vasculogenesis and angiogenesis. Results To determine the role of this gene in cardiac development, we have identified its zebrafish orthologs (rbm24a and rbm24b), and functionally evaluated them during zebrafish embryogenesis. Consistent with our underlying hypothesis, reduction in expression of either ortholog through injection of morpholino antisense oligonucleotides results in cardiogenic defects including cardiac looping and reduced circulation, leading to increasing pericardial edema over time. Additionally, morphant embryos for either ortholog display incompletely overlapping defects in the forming vasculature of the dorsal aorta (DA), posterior caudal vein (PCV) and caudal vein (CV) which are the first blood vessels to form in the embryo. Vasculogenesis and early angiogenesis in the trunk were similarly compromised in rbm24 morphant embryos at 48 hours post fertilization (hpf). Subsequent vascular maintenance was impaired in both rbm24 morphants with substantial vessel degradation noted at 72 hpf. Conclusion Taken collectively, our functional data support the hypothesis that rbm24a and rbm24b are key developmental cardiac genes with unequal roles in cardiovascular formation

    Identification of RNA binding motif proteins essential for cardiovascular development

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    Background: We recently identified Rbm24 as a novel gene expressed during mouse cardiac development. Due to its tightly restricted and persistent expression from formation of the cardiac crescent onwards and later in forming vasculature we posited it to be a key player in cardiogenesis with additional roles in vasculogenesis and angiogenesis. Results: To determine the role of this gene in cardiac development, we have identified its zebrafish orthologs (rbm24a and rbm24b), and functionally evaluated them during zebrafish embryogenesis. Consistent with our underlying hypothesis, reduction in expression of either ortholog through injection of morpholino antisense oligonucleotides results in cardiogenic defects including cardiac looping and reduced circulation, leading to increasing pericardial edema over time. Additionally, morphant embryos for either ortholog display incompletely overlapping defects in the forming vasculature of the dorsal aorta (DA), posterior caudal vein (PCV) and caudal vein (CV) which are the first blood vessels to form in the embryo. Vasculogenesis and early angiogenesis in the trunk were similarly compromised in rbm24 morphant embryos at 48 hours post fertilization (hpf). Subsequent vascular maintenance was impaired in both rbm24 morphants with substantial vessel degradation noted at 72 hpf. Conclusion: Taken collectively, our functional data support the hypothesis that rbm24a and rbm24b are key developmental cardiac genes with unequal roles in cardiovascular formation

    A Rare Myelin Protein Zero (MPZ) Variant Alters Enhancer Activity In Vitro and In Vivo

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    expression. variants. that resides within a previously described SOX10 binding site is associated with decreased enhancer activity, and alters binding of nuclear proteins. Additionally, the genomic segment harboring this variant directs tissue-relevant reporter gene expression in zebrafish. variant within a cis-acting transcriptional regulatory element. While we were unable to implicate this variant in disease onset, our data suggests that similar non-coding sequences should be screened for mutations in patients with neurological disease. Furthermore, our multi-faceted approach for examining the functional significance of non-coding variants can be readily generalized to study other loci important for myelin structure and function

    Identifying the connection between Roman Conceptions of ‘Pure Air’ and Physical and Mental Health in Pompeian Gardens (c. 150 BC-AD 79): A Multi-Sensory Approach to Ancient Medicine

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    Different genres of Roman literature commented on the relationship between the condition of the environment and physical and mental health. They often refer to clear, pure, or good air as a beneficial aspect of the environment. Yet, unlike fetid air, they provide few descriptions of what constituted healthy air quality. Moreover, aside from pointing out the association between the environment and bodily condition, the writers also did not explain precisely how the link between the two was made. This paper utilizes a comparative study of ancient literature and the archaeological remains of Roman gardens in Pompeii: archaeobotanical samples, fresco paintings, location, and surviving features. Three questions are addressed in this study: First, how did the Romans identify and define pure? Second, how did air connect to the body? Third, what were the qualities of pure air and how did they benefit the body? Not only was inhalation a means of linking air to the body, but the two were also related through sensory perception. I argue that sight, sound, and olfaction were used to identify the qualities of pure air. Through the sensory process of identification, the beneficial properties of pure air were, in accordance with ancient perceptions of sensory function, taken into the body and affected health. Thus, sensory perception acted as the bridge between the environment and health
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