45 research outputs found

    Novel single base-pair deletion in exon 1 of XK gene leading to McLeod syndrome with chorea, muscle wasting, peripheral neuropathy, acanthocytosis and haemolysis.

    Get PDF
    We present a 70-year-old male patient of Greek origin with choreatic movements of the tongue and face, lower limb muscle weakness, peripheral neuropathy, elevated creatinephosphokinase (CPK), acanthocytosis and haemolysis in the absence of Kell RBC antigens with an additional Factor IX-deficiency. Genetic testing for mutations in the three exons of the XK gene revealed a previously unreported hemizygous single base-pair frameshift deletion at exon 1 (c.229delC, p.Leu80fs). In conclusion, we hereby describe a rare phenotype of a patient with McLeod syndrome which was discovered coincidentally during routine blood group testing and consecutively genetically confirmed

    Pseudomonas viridiflava, a Multi Host Plant Pathogen with Significant Genetic Variation at the Molecular Level

    Get PDF
    The pectinolytic species Pseudomonas viridiflava has a wide host range among plants, causing foliar and stem necrotic lesions and basal stem and root rots. However, little is known about the molecular evolution of this species. In this study we investigated the intraspecies genetic variation of P. viridiflava amongst local (Cretan), as well as international isolates of the pathogen. The genetic and phenotypic variability were investigated by molecular fingerprinting (rep-PCR) and partial sequencing of three housekeeping genes (gyrB, rpoD and rpoB), and by biochemical and pathogenicity profiling. The biochemical tests and pathogenicity profiling did not reveal any variability among the isolates studied. However, the molecular fingerprinting patterns and housekeeping gene sequences clearly differentiated them. In a broader phylogenetic comparison of housekeeping gene sequences deposited in GenBank, significant genetic variability at the molecular level was found between isolates of P. viridiflava originated from different host species as well as among isolates from the same host. Our results provide a basis for more comprehensive understanding of the biology, sources and shifts in genetic diversity and evolution of P. viridiflava populations and should support the development of molecular identification tools and epidemiological studies in diseases caused by this species

    Deciphering the epigenetic alphabet involved in transgenerational stress memory in crops

    Get PDF
    Although epigenetic modifications have been intensely investigated over the last decade due to their role in crop adaptation to rapid climate change, it is unclear which epigenetic changes are heritable and therefore transmitted to their progeny. The identification of epigenetic marks that are transmitted to the next generations is of primary importance for their use in breeding and for the development of new cultivars with a broad-spectrum of tolerance/resistance to abiotic and biotic stresses. In this review, we discuss general aspects of plant responses to environmental stresses and provide an overview of recent findings on the role of transgenerational epigenetic modifications in crops. In addition, we take the opportunity to describe the aims of EPI-CATCH, an international COST action consortium composed by researchers from 28 countries. The aim of this COST action launched in 2020 is: (1) to define standardized pipelines and methods used in the study of epigenetic mechanisms in plants, (2) update, share, and exchange findings in epigenetic responses to environmental stresses in plants, (3) develop new concepts and frontiers in plant epigenetics and epigenomics, (4) enhance dissemination, communication, and transfer of knowledge in plant epigenetics and epigenomics

    Voltammetric Determination of Pb(II) by a Ca-MOF-Modified Carbon Paste Electrode Integrated in a 3D-Printed Device

    No full text
    In this work, a voltammetric method based on a metal organic framework (Ca-MOF)-modified carbon paste electrode for lead determination was developed. The MOF-based electrode was packed in a new type of 3D-printed syringe-type integrated device, which was entirely fabricated by a dual extruder 3D printer. After optimization of the operational parameters, a limit of detection of 0.26 µg L−1 Pb(II) was achieved, which is lower than that of existing MOF-based lead sensors. The device was used for Pb(II) determination in fish feed and bottled water samples with high accuracy and reliability. The proposed sensor is suitable for on-site analyses and provides a low-cost integrated transducer for the ultrasensitive routine detection of lead in practical applications

    Κάθαρση μυελού παίδων με νεοπλασίες με τη χρήση φωτοδυναμικής θεραπείας

    No full text
    We studied the effect of Mc540 phototradiation on both neoplastic and norutal houcpoietic progenitor cells. Bone marrow cells front 26 children with acute lenkemias, ALL in remission and normaly children as weel as of Rch-6 and HC-60 all lines were incubated with Mc 540 in the presence or absence of human albumus and expesed to Laser light (Argon 514nm or Nd-Yag) A99.9999% inhibition of Reh-6 and HL-60 was noted at irydiation doses where corresponducy mean survival of BM cells was 80.6 +- 4% and 74.3 +-2.8% respectively (liggid cultures) fresh bone marrow shampuls from children with acute lenkemias were also very sensitive to Mc 540 photorractiation although variability was abserved in the sensitively to Mc 540. The survival of normal bone marrow progenitors from children with ALL in remission was 22% for CFU-E, 36% for BFU-E, 38% for CFU-GM and 26% for CFU- GEMM. H.A. protects normal haucpoietic cells from Mc 540 mediated phototoxicity and it has minimal effect on the survival of neoplantic cells at doses < =0.25%.Μελετήθηκε η εκλεκτική κυτταρικοξική δράση της φωτοακτινοβόλησης με laser παρουσία Μεροκυανικής 540 (Mc 540)σε κύτταρα λευχαιμικών σειρών (Rch-6 και HC-60) νεοκλασματικά κύτταρα μυελού παιδιών με ΟΛΛ σε ύφεση και φυσιολογικών μαρτύρων και κύτταρα περιφερικού αίματος φυσιολογικών παιδιών. Μελετήθηκε επίσης η επίδραση της ανθρώπινης λευκοματίνης στα νεοπλασματικά και φυσιολογικά αιμοπτητικά κύτταρα. Παρατηρήθηκε αναστολή επιβίωσης 99.9999% για τα HC-60 και RCH-6 κύτταρα, ενώ στις ίδιες συνθήκες ακτινοβόλησης η επιβίωση των φυσιολογικών πρόδρομων μυελικών κυττάρων ήταν 80-+4% και 74.3+-2.8% αντίστοιχα (υγρές καλ/γιες) και των προγονικών αιμοποιητικών κυττάρων των παιδιών με ΟΝΛ σε ύφεση 22% για CFU- Ε, 36% για BFU-Ε, 38.5% για CFU-GM και 26% CFU-GΕMM. Ετερογένεια παρατηρήθηκε στην αντίδραση της μεθόδου στα "νωπά" νεοπλαστικά κύτταρα παιδιών με κακοήθειες, ενώ η ανθρώπινη λευκωματίνη είχε ευνοϊκή επίδραση των επιβίωση των φυσιολογικών προδρόμων και προγονικών αιμοποιητικών κυττάρων

    Clinical experience with transcutaneous supraorbital nerve stimulation in patients with refractory migraine or with migraine and intolerance to topiramate: a prospective exploratory clinical study

    No full text
    Abstract Background Migraine is included in the top-ten disabling diseases and conditions among the Western populations. Non-invasive neurostimulation, including the Cefaly® device, for the treatment of various types of pain is a relatively new field of interest. The aim of the present study was to explore the clinical experience with Cefaly® in a cohort of migraine patients previously refractory or intolerant to topiramate prophylaxis. Methods A prospective, multi-center clinical study was performed in patients diagnosed with episodic or chronic migraine with a previous failure to topiramate treatment requiring prevention with Cefaly® according to the treating physician’s suggestion. A 1-month period of baseline observation was followed by a 3-month period of observation during the use of transcutaneous supraorbital nerve stimulation (t-SNS) with Cefaly® as the only preventive treatment. Results A small but statistically significant decline was shown over time in the number of days with headache (HA), the number of days with HA with intensity ≥5/10, and the number of days with use of acute medication after 3 months (p < 0.001 for all of the three changes). Twenty-three patients (65.7%) expressed their satisfaction and intent to continue treatment with Cefaly®. Compliance was higher among satisfied subjects compared to non-satisfied subjects. None of the explored factors were significantly associated with the reason for the failure of topiramate. Conclusion Three-months of preventive treatment for episodic or chronic migraine with t-SNS proved to be an effective, safe and well tolerated option for the treatment of patients with migraine who were intolerant or did not respond to topiramate. Trial registration ClinicalTrials NCT03125525 . Registered 21 April 2017
    corecore