Read by QxMD icon Read


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
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
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
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
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...
January 30, 2017: International Journal of Surgery
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
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
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
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
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
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...
September 26, 2016: Journal of Molecular Biology
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
Eva Morava, Vera Tiemes, Christian Thiel, Nathalie Seta, Pascale de Lonlay, Hans de Klerk, Margot Mulder, Estela Rubio-Gozalbo, Gepke Visser, Peter van Hasselt, Dafne D G Horovitz, Carolina Fischinger Moura de Souza, Ida V D Schwartz, Andrew Green, Mohammed Al-Owain, Graciella Uziel, Sabine Sigaudy, Brigitte Chabrol, Franc-Jan van Spronsen, Martin Steinert, Eleni Komini, Donald Wurm, Andrea Bevot, Addelkarim Ayadi, Karin Huijben, Marli Dercksen, Peter Witters, Jaak Jaeken, Gert Matthijs, Dirk J Lefeber, Ron A Wevers
No abstract text is available yet for this article.
September 2016: Journal of Inherited Metabolic Disease
Cecile Gallea, Silvina G Horovitz, Muslimah 'Ali Najee-Ullah, Mark Hallett
Handwriting with the dominant hand is a highly skilled task singularly acquired in humans. This skill is the isolated deficit in patients with writer's cramp (WC), a form of dystonia with maladaptive plasticity, acquired through intensive and repetitive motor practice. When a skill is highly trained, a motor program is created in the brain to execute the same movement kinematics regardless of the effector used for the task. The task- and effector-specific symptoms in WC suggest that a problem particularly occurs in the brain when the writing motor program is carried out by the dominant hand...
December 2016: Human Brain Mapping
Simone Beuter, Ziv Ardi, Omer Horovitz, Jennifer Wuchter, Stefanie Keller, Rinki Saha, Kuldeep Tripathi, Rachel Anunu, Orli Kehat, Martin Kriebel, Gal Richter-Levin, Hansjürgen Volkmer
Neuronal transmission is regulated by the local circuitry which is composed of principal neurons targeted at different subcellular compartments by a variety of interneurons. However, mechanisms that contribute to the subcellular localisation and maintenance of GABAergic interneuron terminals are poorly understood. Stabilization of GABAergic synapses depends on clustering of the postsynaptic scaffolding protein gephyrin and its interaction with the guanine nucleotide exchange factor collybistin. Lentiviral knockdown experiments in adult rats indicated that the receptor tyrosine kinase EphA7 is required for the stabilisation of basket cell terminals on proximal dendritic and somatic compartments of granular cells of the dentate gyrus...
2016: Scientific Reports
Carine W Maurer, Kathrin LaFaver, Rezvan Ameli, Steven A Epstein, Mark Hallett, Silvina G Horovitz
OBJECTIVE: To investigate the neural mechanisms underlying impaired self-agency in patients with functional movement disorders using resting-state functional MRI (fMRI). METHODS: We obtained resting-state fMRI on 35 patients with clinically definite functional movement disorders and 35 age- and sex-matched healthy controls. Between-group differences in functional connectivity from the right temporo-parietal junction (TPJ), a region previously demonstrated to play a critical role in self-agency by comparing internal predictions of movement with actual external events, were assessed using t tests...
August 9, 2016: Neurology
Dafne Dain Gandelman Horovitz, Marcos Vinicius da Silva Pone, Sheila Moura Pone, Tania Regina Dias Saad Salles, Marcia Cristina Bastos Boechat
No abstract text is available yet for this article.
July 5, 2016: Neurology
Yoseph Horovitz, Osama Tanous, Morad Khayat, Munir Shaker, Stavit Shalev, Ronen Spiegel
AIMS: To determine if familial Mediterranean fever (FMF) genetic testing should be advised in children with initial presentation of monoarthritis and to identify clinical parameters associated with FMF-induced arthritis that warrant genetic investigation. METHODS: A prospective study of 71 otherwise healthy children admitted to our pediatric department between 2010-2013 with a first episode of idiopathic monoarthritis. Demographic, clinical and laboratory data were documented and genetic assay of the five common mutations in our population of the MEFV gene that cause FMF syndrome were analyzed in the entire study population...
June 16, 2016: International Journal of Rheumatic Diseases
Dafne Dain Gandelman Horovitz, Angelina X Acosta, Roberto Giugliani, Anna Hlavatá, Katarína Hlavatá, Michel C Tchan, Anneliese Lopes Barth, Laercio Cardoso, Emília Katiane Embiruçu de Araújo Leão, Ana Carolina Esposito, Sandra Obikawa Kyosen, Carolina Fischinger Moura De Souza, Ana Maria Martins
BACKGROUND: Enzyme replacement therapy (ERT) with laronidase (recombinant human α-L-iduronidase, Aldurazyme®) is indicated for non-neurological signs and symptoms of mucopolysaccharidosis type I (MPS I). The approved laronidase dose regimen is weekly infusions of 0.58mg/kg, however, patients and caregivers may have difficulty complying with the weekly regimen. We examined clinical outcomes, tolerability, compliance, and satisfaction in a series of patients who switched to every other week infusions...
2016: Orphanet Journal of Rare Diseases
Nora Vanegas-Arroyave, Peter M Lauro, Ling Huang, Mark Hallett, Silvina G Horovitz, Kareem A Zaghloul, Codrin Lungu
Deep brain stimulation therapy is an effective symptomatic treatment for Parkinson's disease, yet the precise mechanisms responsible for its therapeutic effects remain unclear. Although the targets of deep brain stimulation are grey matter structures, axonal modulation is known to play an important role in deep brain stimulation's therapeutic mechanism. Several white matter structures in proximity to the subthalamic nucleus have been implicated in the clinical benefits of deep brain stimulation for Parkinson's disease...
April 2016: Brain: a Journal of Neurology
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"