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  • Minireview

    Glucose transporter type I deficiency and epilepsy: an emerging condition

    Federica Patrizi , Chiara Mazzocchetti , Alberto Verroti
    Glucose transporter type I (GLUT1) deficiency syndrome (GLUT1DS) is a rare neurological disorder caused by a defective glucose transport through the blood-brain barrier. The main clinical manifestations are an early-onset epilepsy resistant to anticonvulsant treatment, with delayed neurological development, acquired microcephaly, incoordination and spasticity. Other clinical manifestations such as oculogyric crises, paroxysmal exertion-induced dyskinesia and weakness, have also been described. Lumbar puncture represents the primary approach to diagnose GLUT1DS. Thereafter, the solute...
    First Published on: 26 Jun 2017
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  • Case Report

    Acquisition of t(2;18)(p11.2;q21.3) and NOTCH1 mutations during Richter’s transformation in chronic lymphocytic leukemia with t(14;19)(q32;q13) and trisomy 12

    Zhenya Tang , Jie Xu , Sa A. Wang , Shaoying Li , Ken H. Young , L. Jeffrey Medeiros , Guilin Tang
    Richter’s transformation is defined as the development of clonally related diffuse large B-cell lymphoma (DLBCL) in a patient with chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL). The onset of DLBCL usually implies a rapidly progressive disease and a poor prognosis. The t(14;19)(q32;q13)/IGH-BCL3 occurs in a unique group of CLL/SLL patients who have younger age at initial diagnosis, faster progression of disease and a possible higher prevalence of a Richter’s transformation. It has been reported in a few cases that co-existence of two or more rearrangement involving IGH,...
    First Published on: 19 Jun 2017
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  • Topic: MicroRNAs as Biomarkers and Mediators of Pathogenesis in Human Diseases

    Breastmilk microRNAs are stable throughout feeding and correlate with maternal weight

    Steven D. Hicks , Molly C. Carney , Andrij Tarasiuk , Susan L. DiAngelo , Leann L. Birch , Ian M. Paul
    Aim: The nutritional content of maternal breast milk (MBM) changes over time and is inconsistent even within a single nursing session. Hindmilk (HM) samples at the end of a feeding demonstrate increased fat and energy compared with foremilk (FM) samples at feeding initiation. MBM also contains high concentrations of micro-ribonucleic acids (miRNAs); non-coding, bioactive molecules that may impact infant growth and development. The aim of this study was to examine whether miRNA concentrations differ in HM and FM fractions of MBM. Methods: FM and HM samples were self-expressed by 13...
    First Published on: 25 May 2017
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  • Original Article

    TBK1 regulates p62/sqstm1 mediated autophagic clearance of intracellular ubiquitinated Staphylococcus aureus in human epithelial cells

    Arun Kumar Singh , Pooja Patel , Dhanendra Tomar , Rochika Singh , Lakshmi Sripada , Paresh Prajapati , Kritarth Singh , Rajesh Singh
    Aim: Staphylococcus aureus (S. aureus), previously considered an extracellular pathogen, can also survive in the intracellular environment of the host cell. It is now evident that autophagy controls intracellular survival of bacteria, however, the role of autophagy in controlling S. aureus survival in epithelial cells is not well understood. The objective of current work was to study the role of ubiquitin in regulating selective autophagy of S. aureus. Methods: Intracellular survival of S. aureus in epithelial cells was studied by gentamycin protection assay. Autophagy was monitored by...
    First Published on: 21 May 2017
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