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https://www.readbyqxmd.com/read/28918368/gnptab-missense-mutations-cause-loss-of-glcnac-1-phosphotransferase-activity-in-mucolipidosis-type-ii-through-distinct-mechanisms
#1
Nataniel Floriano Ludwig, Renata Voltolini Velho, Fernanda Sperb-Ludwig, Angelina Xavier Acosta, Erlane Marques Ribeiro, Chong Kim, Dafne Dain Gandelman Horovitz, Raquel Boy, Maria Juliana Rodovalho-Doriqui, Charles Marques Lourenço, Emerson Santana Santos, Thomas Braulke, Sandra Pohl, Ida Vanessa D Schwartz
Mucolipidoses (ML) II and III alpha/beta are lysosomal storage diseases caused by pathogenic mutations in GNPTAB encoding the α⁄β-subunit precursor of GlcNAc-1-phosphotransferase. To determine genotype-phenotype correlation and functional analysis of mutant GlcNAc-1-phosphotransferase, 13 Brazilian patients clinically and biochemical diagnosed for MLII or III alpha/beta were studied. By sequencing of genomic GNPTAB of the MLII and MLIII alpha/beta patients we identified six novel mutations: p.D76G, p.S385L, p...
September 13, 2017: International Journal of Biochemistry & Cell Biology
https://www.readbyqxmd.com/read/28794496/measuring-inter-protein-pairwise-interaction-energies-from-a-single-native-mass-spectrum-by-double-mutant-cycle-analysis
#2
Miri Sokolovski, Jelena Cveticanin, Déborah Hayoun, Ilia Korobko, Michal Sharon, Amnon Horovitz
The strength and specificity of protein complex formation is crucial for most life processes and is determined by interactions between residues in the binding partners. Double-mutant cycle analysis provides a strategy for studying the energetic coupling between amino acids at the interfaces of such complexes. Here we show that these pairwise interaction energies can be determined from a single high-resolution native mass spectrum by measuring the intensities of the complexes formed by the two wild-type proteins, the complex of each wild-type protein with a mutant protein, and the complex of the two mutant proteins...
August 9, 2017: Nature Communications
https://www.readbyqxmd.com/read/28761589/the-role-of-urinary-cytology-when-diagnostic-workup-is-suspicious-for-upper-tract-urothelial-carcinoma-but-tumour-biopsy-is-nonconfirmatory
#3
David Horovitz, Yifan Meng, Jean V Joseph, Changyong Feng, Guan Wu, Hani Rashid, Edward M Messing
INTRODUCTION: We sought to determine the value of obtaining preoperative urinary cytology when diagnostic workup of an upper tract mass is suspicious for upper tract urothelial carcinoma (UTUC), but biopsy fails to confirm the diagnosis. METHODS: Using billing code data, 239 patients were identified as having undergone radical nephroureterectomy (RNU) by 16 urologists from September 29, 1998 to July 31, 2015. Of this group, 19 adult patients had a presumed preoperative diagnosis of UTUC in a native kidney, at least three months of followup, no history of concurrent radical cystectomy with RNU, and negative/non-diagnostic tissue biopsy...
July 2017: Canadian Urological Association Journal, Journal de L'Association des Urologues du Canada
https://www.readbyqxmd.com/read/28758982/n-doped-tio%C3%A2-coated-ceramic-membrane-for-carbamazepine-degradation-in-different-water-qualities
#4
Enbal Luster, Dror Avisar, Inna Horovitz, Luca Lozzi, Mark A Baker, Rossana Grilli, Hadas Mamane
The photocatalytic degradation of the model pollutant carbamazepine (CBZ) was investigated under simulated solar irradiation with an N-doped TiO₂-coated Al₂O₃ photocatalytic membrane, using different water types. The photocatalytic membrane combines photocatalysis and membrane filtration in a single step. The impact of each individual constituent such as acidity, alkalinity, dissolved organic matter (DOM), divalent cations (Mg(2+) and Ca(2+)), and Cl(-) on the degradation of CBZ was examined. CBZ in water was efficiently degraded by an N-doped TiO₂-coated Al₂O₃ membrane...
July 31, 2017: Nanomaterials
https://www.readbyqxmd.com/read/28741376/rate-of-symptomatic-lymphocele-formation-after-extraperitoneal-vs-transperitoneal-robot-assisted-radical-prostatectomy-and-bilateral-pelvic-lymphadenectomy
#5
David Horovitz, Xiang Lu, Changyong Feng, Edward M Messing, Jean V Joseph
INTRODUCTION AND OBJECTIVE: With the peritoneum acting as a natural surface for lymphatic reabsorption, transperitoneal robot-assisted radical prostatectomy (tRARP) is thought to be associated with a lower incidence of symptomatic lymphoceles (SLs) compared with its extraperitoneal counterpart (eRARP) when bilateral pelvic lymph node dissection (BPLND) is performed. In this study, we aim to determine if there is a difference in SL formation and characteristics between the two approaches...
August 30, 2017: Journal of Endourology
https://www.readbyqxmd.com/read/28649514/early-hematopoietic-stem-cell-transplantation-in-a-patient-with-severe-mucopolysaccharidosis-ii-a-7%C3%A2-years-follow-up
#6
Anneliese L Barth, Tatiana S P C de Magalhães, Ana Beatriz R Reis, Maria Lucia de Oliveira, Fernanda B Scalco, Nicolette C Cavalcanti, Daniel S E Silva, Danielle A Torres, Alessandra A P Costa, Carmem Bonfim, Roberto Giugliani, Juan C Llerena, Dafne D G Horovitz
Mucopolysaccharidosis type II (MPS II - Hunter syndrome) is an X-linked lysosomal storage disorder caused by a deficiency in the enzyme iduronate-2 sulfatase (I2S), leading to the accumulation of the glycosaminoglycans, affecting multiple organs and systems. Enzyme replacement therapy does not cross the blood brain barrier, limiting results in neurological forms of the disease. Another option of treatment for severe MPS, hematopoietic stem cell transplantation (HSCT) has become the treatment of choice for the severe form of MPS type I, since it can preserve neurocognition when performed early in the course of the disease...
September 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28507791/the-mutational-status-of-p53-can-influence-its-recognition-by-human-t-cells
#7
Katerina Shamalov, Shlomo N Levy, Miryam Horovitz-Fried, Cyrille J Cohen
p53 was reported to be an attractive immunotherapy target because it is mutated in approximately half of human cancers, resulting in its inactivation and often accumulation in tumor cells. Peptides derived from p53 are presented by class I MHC molecules and may act as tumor-associated epitopes which could be targeted by p53-specific T cells. Interestingly, it was recently shown that there is a lack of significant correlation between p53 expression levels in tumors and their recognition by p53-TCR transduced T cells...
2017: Oncoimmunology
https://www.readbyqxmd.com/read/28461478/sequential-allosteric-mechanism-of-atp-hydrolysis-by-the-cct-tric-chaperone-is-revealed-through-arrhenius-analysis
#8
Ranit Gruber, Michael Levitt, Amnon Horovitz
Knowing the mechanism of allosteric switching is important for understanding how molecular machines work. The CCT/TRiC chaperonin nanomachine undergoes ATP-driven conformational changes that are crucial for its folding function. Here, we demonstrate that insight into its allosteric mechanism of ATP hydrolysis can be achieved by Arrhenius analysis. Our results show that ATP hydrolysis triggers sequential ‟conformational waves." They also suggest that these waves start from subunits CCT6 and CCT8 (or CCT3 and CCT6) and proceed clockwise and counterclockwise, respectively...
May 16, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28380188/respiratory-manifestations-in-late-onset-pompe-disease-a-case-series-conducted-in-brazil
#9
Bruna de Souza Sixel, Luanda Dias da Silva, Nicolette Celani Cavalcanti, Glória Maria Cardoso de Andrade Penque, Sandra Lisboa, Dafne Dain Gandelman Horovitz, Juan Clinton Llerena
Objective: To describe respiratory function in a series of patients with late-onset Pompe disease after the definitive diagnosis and before enzyme replacement therapy. Methods: This was a cross-sectional study involving patients with a definitive molecular diagnosis of late-onset Pompe disease. The data analyzed included age at symptom onset; age at definitive diagnosis; type of initial symptoms; time from symptom onset to diagnosis; FVC in the sitting and supine positions; six-minute walk distance; and locomotor ability...
January 2017: Jornal Brasileiro de Pneumologia: Publicaça̋o Oficial da Sociedade Brasileira de Pneumologia e Tisilogia
https://www.readbyqxmd.com/read/28352073/periaqueductal-grey-differential-modulation-of-nucleus-accumbens-and-basolateral-amygdala-plasticity-under-controllable-and-uncontrollable-stress
#10
Omer Horovitz, Alon Richter-Levin, Lin Xu, Liang Jing, Gal Richter-Levin
Resilience has been conceptualized in part as a dynamic process that includes the ability to adapt to stressful conditions. As such it encompasses the extent to which neural plasticity may be promoted. The current study examined metaplasticity by referring to the "plasticity of synaptic plasticity" in a neural circuit composed of the basolateral amygdala (BLA) and the nucleus accumbens (NAcc), using behavioural stress controllability with or without preceding stimulation of the dorsal periaqueductal gray (i...
March 28, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28346496/overlapping-setbp1-gain-of-function-mutations-in-schinzel-giedion-syndrome-and-hematologic-malignancies
#11
Rocio Acuna-Hidalgo, Pelagia Deriziotis, Marloes Steehouwer, Christian Gilissen, Sarah A Graham, Sipko van Dam, Julie Hoover-Fong, Aida B Telegrafi, Anne Destree, Robert Smigiel, Lindsday A Lambie, Hülya Kayserili, Umut Altunoglu, Elisabetta Lapi, Maria Luisa Uzielli, Mariana Aracena, Banu G Nur, Ercan Mihci, Lilia M A Moreira, Viviane Borges Ferreira, Dafne D G Horovitz, Katia M da Rocha, Aleksandra Jezela-Stanek, Alice S Brooks, Heiko Reutter, Julie S Cohen, Ali Fatemi, Martin Smitka, Theresa A Grebe, Nataliya Di Donato, Charu Deshpande, Anthony Vandersteen, Charles Marques Lourenço, Andreas Dufke, Eva Rossier, Gwenaelle Andre, Alessandra Baumer, Careni Spencer, Julie McGaughran, Lude Franke, Joris A Veltman, Bert B A De Vries, Albert Schinzel, Simon E Fisher, Alexander Hoischen, Bregje W van Bon
Schinzel-Giedion syndrome (SGS) is a rare developmental disorder characterized by multiple malformations, severe neurological alterations and increased risk of malignancy. SGS is caused by de novo germline mutations clustering to a 12bp hotspot in exon 4 of SETBP1. Mutations in this hotspot disrupt a degron, a signal for the regulation of protein degradation, and lead to the accumulation of SETBP1 protein. Overlapping SETBP1 hotspot mutations have been observed recurrently as somatic events in leukemia. We collected clinical information of 47 SGS patients (including 26 novel cases) with germline SETBP1 mutations and of four individuals with a milder phenotype caused by de novo germline mutations adjacent to the SETBP1 hotspot...
March 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28328129/the-phenotypic-spectrum-of-congenital-zika-syndrome
#12
Miguel Del Campo, Ian M L Feitosa, Erlane M Ribeiro, Dafne D G Horovitz, André L S Pessoa, Giovanny V A França, Alfredo García-Alix, Maria J R Doriqui, Hector Y C Wanderley, Maria V T Sanseverino, João I C F Neri, João M Pina-Neto, Emerson S Santos, Islane Verçosa, Mirlene C S P Cernach, Paula F V Medeiros, Saile C Kerbage, André A Silva, Vanessa van der Linden, Celina M T Martelli, Marli T Cordeiro, Rafael Dhalia, Fernanda S L Vianna, Cesar G Victora, Denise P Cavalcanti, Lavinia Schuler-Faccini
In October 2015, Zika virus (ZIKV) outbreak the Brazilian Ministry of Health (MoH). In response, the Brazilian Society of Medical Genetics established a task force (SBGM-ZETF) to study the phenotype of infants born with microcephaly due to ZIKV congenital infection and delineate the phenotypic spectrum of this newly recognized teratogen. This study was based on the clinical evaluation and neuroimaging of 83 infants born during the period from July, 2015 to March, 2016 and registered by the SBGM-ZETF. All 83 infants had significant findings on neuroimaging consistent with ZIKV congenital infection and 12 had confirmed ZIKV IgM in CSF...
April 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28153785/aortic-and-splanchnic-artery-aneurysms-unusual-causes-of-biliary-obstruction-a-retrospective-cohort-from-literature
#13
REVIEW
Kevin Tin, Zain A Sobani, Joel Horovitz, Rabin Rahmani
Mechanical obstruction of the biliary tree and resultant stasis are the cornerstone of a spectrum of diseases ranging from biliary colic to fulminant cholangitis. Infrequently acquired abnormalities of the abdominal vasculature can lead to biliary obstruction. In 2010, we reported a case of acute cholangitis resulting from compression of extra hepatic bile duct by an abdominal aortic aneurysm (AAA). We subsequently conducted a follow up scoping review of literature to identify other cases of acquired abdominal arterial abnormalities resulting in biliary obstruction looking at their management and outcomes...
March 2017: International Journal of Surgery
https://www.readbyqxmd.com/read/28120135/extraperitoneal-vs-transperitoneal-robot-assisted-radical-prostatectomy-in-patients-with-a-history-of-prior-inguinal-hernia-repair-with-mesh
#14
David Horovitz, Changyong Feng, Edward M Messing, Jean V Joseph
Robot-assisted radical prostatectomy (RARP) may be performed via an extraperitoneal (eRARP) or transperitoneal (tRARP) approach. There are no published studies comparing these two methods in patients with a history of prior inguinal hernia repair with mesh (IHRm), but the latter is often advocated in this setting. A retrospective review of patients who underwent RARP with prior IHRm who had a minimum follow-up of 3 months from July 1, 2003 to December 31, 2014 was undertaken. Of 2927 patients who underwent RARP for primary treatment of adenocarcinoma of the prostate, 286 patients had a clear history of IHRm...
January 24, 2017: Journal of Robotic Surgery
https://www.readbyqxmd.com/read/28116232/changes-in-functional-organization-and-white-matter-integrity-in-the-connectome-in-parkinson-s-disease
#15
Sule Tinaz, Peter M Lauro, Pritha Ghosh, Codrin Lungu, Silvina G Horovitz
Parkinson's disease (PD) leads to dysfunction in multiple cortico-striatal circuits. The neurodegeneration has also been associated with impaired white matter integrity. This structural and functional "disconnection" in PD needs further characterization. We investigated the structural and functional organization of the PD whole brain connectome consisting of 200 nodes using diffusion tensor imaging and resting-state functional MRI, respectively. Data from 20 non-demented PD patients on dopaminergic medication and 20 matched controls were analyzed using graph theory-based methods...
2017: NeuroImage: Clinical
https://www.readbyqxmd.com/read/28073298/extraperitoneal-vs-transperitoneal-robot-assisted-radical-prostatectomy-in-the-setting-of-prior-abdominal-or-pelvic-surgery
#16
David Horovitz, Changyong Feng, Edward M Messing, Jean V Joseph
INTRODUCTION: During robot-assisted radical prostatectomy (RARP), the prostate may be approached extraperiteoneally (extraperitoneal robot-assisted radical prostatectomy [eRARP]) or transperitoneally (transperitoneal robot-assisted radical prostatectomy [tRARP]). The former avoids the abdominal cavity, which might be of benefit in patients who have had prior abdominal or pelvic surgery (PAPS). Our objective was to compare the outcomes of patients with PAPS undergoing either technique...
April 2017: Journal of Endourology
https://www.readbyqxmd.com/read/28060550/evaluating-platelet-function-disorders-in-children-with-bleeding-tendency-a-single-center-study
#17
Osama Tanous, Orna Steinberg Shemer, Joanne Yacobovich, Meira Zoldan, Yoseph Horovitz, Isaac Yaniv, Esther Rabizadeh, Hannah Tamary, Sigal Nakav, Judith Lahav
Platelet function disorders (PFDs) are a common cause of mild bleeding tendency. However, they cannot be recognized by standard screening studies. The gold standard test for PFD is platelet aggregation, performed by light transmission aggregometry (LTA). A newer and less validated method is the closure time (CT), performed by the platelet function Analyzer 100 (PFA-100). Data regarding the validity of these tests in children are limited. The aim of this study was to evaluate the usefulness of LTA and PFA-100 for the diagnosis of pediatric patients with bleeding tendency...
January 6, 2017: Platelets
https://www.readbyqxmd.com/read/27709275/-impairment-of-oxygenation-of-patients-in-surgical-intensive-care-early-symptom-of-severe-sepsis
#18
M Hückstädt, G O Hofmann, T Mendel, R Stuttmann, P Hilbert-Carius
BACKGROUND: Sepsis and septic shock are major contributors to morbidity and mortality in intensive care patients. Early identification and adequate therapy are of utmost importance to reduce the still high mortality in patients with severe sepsis. Many of the pathophysiologic changes are nonspecific. Thus, a combination of symptoms and laboratory results are necessary to confirm the diagnosis. Impairment of the Horovitz index is identified as being a primal prognostic criterion for early diagnosis in serious progression of sepsis, after exclusion of a few differential diagnoses...
November 2016: Der Anaesthesist
https://www.readbyqxmd.com/read/27686496/transient-kinetic-analysis-of-atp-hydrolysis-by-the-cct-tric-chaperonin
#19
Ilia Korobko, Michal Nadler-Holly, Amnon Horovitz
The chaperonin-containing t-complex polypeptide 1 (CCT, also known as TRiC) assists protein folding in an ATP-dependent manner. CCT/TRiC was mixed rapidly with different concentrations of ATP, and the amount of phosphate formed upon ATP hydrolysis was measured as a function of time using the coumarin-labeled phosphate-binding protein method. Two burst phases were observed, followed by a lag phase and then a linear steady-state phase of ATP hydrolysis. The phases were assigned by (i) determining their dependence on ATP and K(+) concentrations and (ii) by measuring their sensitivity to the mutation Gly345→Asp in subunit CCT4, which decreases cooperativity in ATP binding...
November 6, 2016: Journal of Molecular Biology
https://www.readbyqxmd.com/read/27634356/gabaergic-synapses-at-the-axon-initial-segment-of-basolateral-amygdala-projection-neurons-modulate-fear-extinction
#20
Rinki Saha, Stephanie Knapp, Darpan Chakraborty, Omer Horovitz, Anne Albrecht, Martin Kriebel, Hanoch Kaphzan, Ingrid Ehrlich, Hansjürgen Volkmer, Gal Richter-Levin
Inhibitory synaptic transmission in the amygdala has a pivotal role in fear learning and its extinction. However, the local circuits formed by GABAergic inhibitory interneurons within the amygdala and their detailed function in shaping these behaviors are not well understood. Here we used lentiviral-mediated knockdown of the cell adhesion molecule neurofascin in the basolateral amygdala (BLA) to specifically remove inhibitory synapses at the axon initial segment (AIS) of BLA projection neurons. Quantitative analysis of GABAergic synapse markers and measurement of miniature inhibitory postsynaptic currents in BLA projection neurons after neurofascin knockdown ex vivo confirmed the loss of GABAergic input...
January 2017: Neuropsychopharmacology: Official Publication of the American College of Neuropsychopharmacology
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