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https://www.readbyqxmd.com/read/28074147/cerebellar-ataxia-and-sensory-ganglionopathy-associated-with-light-chain-myeloma
#1
Panagiotis Zis, Dasappaiah Ganesh Rao, Bart E Wagner, Lucinda Nicholson-Goult, Nigel Hoggard, Marios Hadjivassiliou
BACKGROUND: Cerebellar ataxia with sensory ganglionopathy is a rare neurological combination that can occur in some hereditary ataxias including mitochondrial diseases and in gluten sensitivity. Individually each condition can be a classic paraneoplastic neurological syndrome. We report a patient with this combination who was diagnosed with light-chain myeloma ten years after initial presentation. CASE PRESENTATION: A 65-year-old Caucasian lady was referred to our Ataxia Clinic because of a 6-year history of progressive unsteadiness and a 2-year history of slurred speech...
2017: Cerebellum & Ataxias
https://www.readbyqxmd.com/read/28067909/smchd1-mutations-associated-with-a-rare-muscular-dystrophy-can-also-cause-isolated-arhinia-and-bosma-arhinia-microphthalmia-syndrome
#2
Natalie D Shaw, Harrison Brand, Zachary A Kupchinsky, Hemant Bengani, Lacey Plummer, Takako I Jones, Serkan Erdin, Kathleen A Williamson, Joe Rainger, Alexei Stortchevoi, Kaitlin Samocha, Benjamin B Currall, Donncha S Dunican, Ryan L Collins, Jason R Willer, Angela Lek, Monkol Lek, Malik Nassan, Shahrin Pereira, Tammy Kammin, Diane Lucente, Alexandra Silva, Catarina M Seabra, Colby Chiang, Yu An, Morad Ansari, Jacqueline K Rainger, Shelagh Joss, Jill Clayton Smith, Margaret F Lippincott, Sylvia S Singh, Nirav Patel, Jenny W Jing, Jennifer R Law, Nalton Ferraro, Alain Verloes, Anita Rauch, Katharina Steindl, Markus Zweier, Ianina Scheer, Daisuke Sato, Nobuhiko Okamoto, Christina Jacobsen, Jeanie Tryggestad, Steven Chernausek, Lisa A Schimmenti, Benjamin Brasseur, Claudia Cesaretti, Jose E García-Ortiz, Tatiana Pineda Buitrago, Orlando Perez Silva, Jodi D Hoffman, Wolfgang Mühlbauer, Klaus W Ruprecht, Bart L Loeys, Masato Shino, Angela M Kaindl, Chie-Hee Cho, Cynthia C Morton, Richard R Meehan, Veronica van Heyningen, Eric C Liao, Ravikumar Balasubramanian, Janet E Hall, Stephanie B Seminara, Daniel Macarthur, Steven A Moore, Koh-Ichiro Yoshiura, James F Gusella, Joseph A Marsh, John M Graham, Angela E Lin, Nicholas Katsanis, Peter L Jones, William F Crowley, Erica E Davis, David R FitzPatrick, Michael E Talkowski
Arhinia, or absence of the nose, is a rare malformation of unknown etiology that is often accompanied by ocular and reproductive defects. Sequencing of 40 people with arhinia revealed that 84% of probands harbor a missense mutation localized to a constrained region of SMCHD1 encompassing the ATPase domain. SMCHD1 mutations cause facioscapulohumeral muscular dystrophy type 2 (FSHD2) via a trans-acting loss-of-function epigenetic mechanism. We discovered shared mutations and comparable DNA hypomethylation patterning between these distinct disorders...
January 9, 2017: Nature Genetics
https://www.readbyqxmd.com/read/28067622/a-homozygous-fitm2-mutation-causes-a-deafness-dystonia-syndrome-with-motor-regression-and-signs-of-ichthyosis-and-sensory-neuropathy
#3
Celia Zazo Seco, Anna Castells-Nobau, Seol-Hee Joo, Margit Schraders, Jia Nee Foo, Monique van der Voet, S Sendhil Velan, Bonnie Nijhof, Jaap Oostrik, Erik de Vrieze, Radoslaw Katana, Atika Mansoor, Martijn Huynen, Radek Szklarczyk, Martin Oti, Lisbeth Tranebjærg, Erwin van Wijk, Jolanda M Scheffer-de Gooyert, Saadat Siddique, Jonathan Baets, Peter de Jonghe, Syed Ali Raza Kazmi, Suresh Anand Sadananthan, Bart P van de Warrenburg, Chiea Chuen Khor, Martin C Göpfert, Raheel Qamar, Annette Schenck, Hannie Kremer, Saima Siddiqi
A consanguineous family from Pakistan was ascertained with a novel deafness-dystonia syndrome with motor regression, ichthyosis-like features and signs of sensory neuropathy. By applying a combined strategy of linkage analysis and whole-exome sequencing in the presented family, a homozygous nonsense mutation, c.4G>T (p.Glu2*), in FITM2 was identified. FITM2 and its paralog FITM1 constitute an evolutionary conserved protein family involved in partitioning of triglycerides into cellular lipid droplets. Despite the role of FITM2 in neutral lipid storage and metabolism, no indications for lipodystrophy were observed in the affected individuals...
December 15, 2016: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/28057638/an-international-registry-of-survivors-with-hb-bart-s-hydrops-fetalis-syndrome
#4
Duantida Songdej, Christian Babbs, Douglas R Higgs
Hb Bart's Hydrops Fetalis Syndrome (BHFS) resulting from α(0)-thalassemia is considered a universally fatal disorder. However, over the last three decades improvements in intrauterine interventions and perinatal intensive care have resulted in increasing numbers of BHFS survivors. We have initiated an international registry containing information on 69 patients, of which 31 are previously unpublished. In this perspective we analyze the available clinical information to document the natural history of BHFS...
January 5, 2017: Blood
https://www.readbyqxmd.com/read/28054365/mapping-for-acute-transvenous-phrenic-nerve-stimulation-study-maps-study
#5
Lukas R C Dekker, Bart Gerritse, Avram Scheiner, Lilian Kornet
AIMS: Central Sleep Apnea Syndrome, correlated with the occurrence of heart failure, is characterized by periods of insufficient ventilation during sleep. This acute study in 15 patients aims to map the venous system and determine, if diaphragmatic movement can be achieved by phrenic nerve stimulation at various locations within the venous system. METHODS: Subjects underwent a scheduled catheter ablation procedure. During the procedural waiting time, one multi-electrode EP catheter was subsequently placed at the the superior and inferior vena cava and the junctions of the left jugular and left brachiocephalic vein and right jugular and right brachiocephalic vein, for phrenic nerve stimulation (1-2 seconds ON / 2-3 seconds OFF, 40 Hz, pulse width 210 μs)...
January 5, 2017: Pacing and Clinical Electrophysiology: PACE
https://www.readbyqxmd.com/read/28028157/brain-histopathology-in-patients-with-systemic-lupus-erythematosus-identification-of-lesions-associated-with-clinical-neuropsychiatric-lupus-syndromes-and-the-role-of-complement
#6
Daniëlle Cohen, Emilie C Rijnink, Rob J A Nabuurs, Gerda M Steup-Beekman, Maarten J Versluis, Bart J Emmer, Malu Zandbergen, Mark A van Buchem, Cornelia F Allaart, Ron Wolterbeek, Jan A Bruijn, Sjoerd G van Duinen, Tom W J Huizinga, Ingeborg M Bajema
OBJECTIVES: Neuropsychiatric (NP) involvement is a poorly understood manifestation of SLE. We studied post-mortem histopathology in relation to clinical NPSLE syndromes and complement deposition in brains of NPSLE and SLE patients and controls. Furthermore, we investigated the correlation between cerebral post-mortem histopathology and ex vivo 7 T MRI findings in SLE and NPSLE. METHODS: A nationwide search for autopsy material yielded brain tissue from 16 NPSLE and 18 SLE patients...
January 2017: Rheumatology
https://www.readbyqxmd.com/read/28027337/association-of-albumin-levels-with-outcome-in-intravenous-immunoglobulin-treated-guillain-barr%C3%A3-syndrome
#7
Willem-Jan R Fokkink, Christa Walgaard, Krista Kuitwaard, Anne P Tio-Gillen, Pieter A van Doorn, Bart C Jacobs
Importance: There is an urgent need for biomarkers to monitor treatment efficacy and anticipate outcome in patients with Guillain-Barré syndrome (GBS). Objective: To assess whether there is an association between serum albumin levels, a widely used and relatively easily measurable biomarker of health and inflammation, and the clinical course and outcome of GBS in patients treated with intravenous immunoglobulin (IVIG). Design, Setting, and Participants: We used serum samples derived from a cohort of patients with GBS admitted to hospitals across the Netherlands participating in national GBS studies from May 5, 1986, through August 2, 2000...
December 27, 2016: JAMA Neurology
https://www.readbyqxmd.com/read/27993616/quantitative-multi-target-rna-profiling-in-epstein-barr-virus-infected-tumor-cells
#8
A E Greijer, O Ramayanti, S A W M Verkuijlen, Z Novalić, H Juwana, J M Middeldorp
Epstein-Barr virus (EBV) is etiologically linked to multiple acute, chronic and malignant diseases. Detection of EBV-RNA transcripts in tissues or biofluids besides EBV-DNA can help in diagnosing EBV related syndromes. Sensitive EBV transcription profiling yields new insights on its pathogenic role and may be useful for monitoring virus targeted therapy. Here we describe a multi-gene quantitative RT-PCR profiling method that simultaneously detects a broad spectrum (n=16) of crucial latent and lytic EBV transcripts...
December 16, 2016: Journal of Virological Methods
https://www.readbyqxmd.com/read/27933655/immunological-diversity-in-phenotypes-of-chronic-lung-allograft-dysfunction-a-comprehensive-immunohistochemical-analysis
#9
Elly Vandermeulen, Elise Lammertyn, Stijn E Verleden, David Ruttens, Hannelore Bellon, Mario Ricciardi, Jana Somers, Ken R Bracke, Kathleen Van Den Eynde, Thomas Tousseyn, Guy G Brusselle, Erik K Verbeken, Johny Verschakelen, Marie-Paule Emonds, Dirk E Van Raemdonck, Geert M Verleden, Robin Vos, Bart M Vanaudenaerde
Chronic rejection after organ transplantation is defined as a humoral- and cell-mediated immune response directed against the allograft. In lung transplantation, chronic rejection is nowadays clinically defined as a cause of chronic lung allograft dysfunction (CLAD), consisting of different clinical phenotypes including restrictive allograft syndrome (RAS) and bronchiolitis obliterans syndrome (BOS). However, the differential role of humoral and cellular immunity is not investigated up to now. Explant lungs of patients with end-stage BOS (n = 19) and RAS (n = 18) were assessed for the presence of lymphoid (B and T cells) and myeloid cells (dendritic cells, eosinophils, mast cells, neutrophils, and macrophages) and compared to nontransplant control lung biopsies (n = 21)...
November 7, 2016: Transplant International: Official Journal of the European Society for Organ Transplantation
https://www.readbyqxmd.com/read/27912901/individualized-versus-conventional-ovarian-stimulation-for-in%C3%A2-vitro-fertilization-a-multicenter-randomized-controlled-assessor-blinded-phase-3-noninferiority-trial
#10
Anders Nyboe Andersen, Scott M Nelson, Bart C J M Fauser, Juan Antonio García-Velasco, Bjarke M Klein, Joan-Carles Arce
OBJECTIVE: To compare the efficacy and safety of follitropin delta, a new human recombinant FSH with individualized dosing based on serum antimüllerian hormone (AMH) and body weight, with conventional follitropin alfa dosing for ovarian stimulation in women undergoing IVF. DESIGN: Randomized, multicenter, assessor-blinded, noninferiority trial (ESTHER-1). SETTING: Reproductive medicine clinics. PATIENT(S): A total of 1,329 women (aged 18-40 years)...
November 22, 2016: Fertility and Sterility
https://www.readbyqxmd.com/read/27901465/livestock-susceptibility-to-infection-with-middle-east-respiratory-syndrome-coronavirus
#11
Júlia Vergara-Alert, Judith M A van den Brand, W Widagdo, Marta Muñoz, Stalin Raj, Debby Schipper, David Solanes, Ivan Cordón, Albert Bensaid, Bart L Haagmans, Joaquim Segalés
Middle East respiratory syndrome (MERS) cases continue to be reported, predominantly in Saudi Arabia and occasionally other countries. Although dromedaries are the main reservoir, other animal species might be susceptible to MERS coronavirus (MERS-CoV) infection and potentially serve as reservoirs. To determine whether other animals are potential reservoirs, we inoculated MERS-CoV into llamas, pigs, sheep, and horses and collected nasal and rectal swab samples at various times. The presence of MERS-CoV in the nose of pigs and llamas was confirmed by PCR, titration of infectious virus, immunohistochemistry, and in situ hybridization; seroconversion was detected in animals of both species...
February 15, 2017: Emerging Infectious Diseases
https://www.readbyqxmd.com/read/27899912/specific-mri-abnormalities-reveal-severe-perrault-syndrome-due-to-clpp-defects
#12
Tom E J Theunissen, Radek Szklarczyk, Mike Gerards, Debby M E I Hellebrekers, Elvira N M Mulder-Den Hartog, Jo Vanoevelen, Rick Kamps, Bart de Koning, S Lane Rutledge, Thomas Schmitt-Mechelke, Carola G M van Berkel, Marjo S van der Knaap, Irenaeus F M de Coo, Hubert J M Smeets
In establishing a genetic diagnosis in heterogeneous neurological disease, clinical characterization and whole exome sequencing (WES) go hand-in-hand. Clinical data are essential, not only to guide WES variant selection and define the clinical severity of a genetic defect but also to identify other patients with defects in the same gene. In an infant patient with sensorineural hearing loss, psychomotor retardation, and epilepsy, WES resulted in identification of a novel homozygous CLPP frameshift mutation (c...
2016: Frontiers in Neurology
https://www.readbyqxmd.com/read/27886869/frailty-and-the-prediction-of-negative-health-outcomes-a-meta-analysis
#13
REVIEW
Sofie Vermeiren, Roberta Vella-Azzopardi, David Beckwée, Ann-Katrin Habbig, Aldo Scafoglieri, Bart Jansen, Ivan Bautmans
INTRODUCTION: Frailty is one of the most important concerns regarding our aging population. Evidence grows that the syndrome is linked to several important health outcomes. A general overview of frailty concepts and a comprehensive meta-analysis of their relation with negative health outcomes still lacks in literature, making it difficult for health care professionals and researchers to recognize frailty and the related health risks on the one hand and on the other hand to appropriately follow up the frailty process and take substantiated action...
December 1, 2016: Journal of the American Medical Directors Association
https://www.readbyqxmd.com/read/27879596/sleep-architecture-linked-to-airway-obstruction-and-intracranial-hypertension-in-children-with-syndromic-craniosynostosis
#14
Bart Spruijt, Irene M J Mathijssen, Hansje H Bredero-Boelhouwer, Perumpillichira J Cherian, Linda J A Corel, Marie-Lise van Veelen, Richard D Hayward, Robert C Tasker, Koen F M Joosten
BACKGROUND: Children with syndromic craniosynostosis often have obstructive sleep apnea and intracranial hypertension. The authors aimed to evaluate (1) sleep architecture, and determine whether this is influenced by the presence of obstructive sleep apnea and/or intracranial hypertension; and (2) the effect of treatment on sleep architecture. METHODS: This study included patients with syndromic craniosynostosis treated at a national referral center, undergoing screening for obstructive sleep apnea and intracranial hypertension...
December 2016: Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/27843126/biallelic-loss-of-proprioception-related-piezo2-causes-muscular-atrophy-with-perinatal-respiratory-distress-arthrogryposis-and-scoliosis
#15
Andrea Delle Vedove, Markus Storbeck, Raoul Heller, Irmgard Hölker, Malavika Hebbar, Anju Shukla, Olafur Magnusson, Sebahattin Cirak, Katta M Girisha, Mary O'Driscoll, Bart Loeys, Brunhilde Wirth
We report ten individuals of four independent consanguineous families from Turkey, India, Libya, and Pakistan with a variable clinical phenotype that comprises arthrogryposis, spontaneously resolving respiratory insufficiency at birth, muscular atrophy predominantly of the distal lower limbs, scoliosis, and mild distal sensory involvement. Using whole-exome sequencing, SNPchip-based linkage analysis, DNA microarray, and Sanger sequencing, we identified three independent homozygous frameshift mutations and a homozygous deletion of two exons in PIEZO2 that segregated in all affected individuals of the respective family...
November 3, 2016: American Journal of Human Genetics
https://www.readbyqxmd.com/read/27837102/treatment-dilemmas-in-guillain-barr%C3%A3-syndrome
#16
REVIEW
Christine Verboon, Pieter A van Doorn, Bart C Jacobs
Guillain-Barré syndrome (GBS) is an acute polyradiculoneuropathy with a highly variable clinical course and outcome. Intravenous immunoglobulin (IVIg) and plasma exchange are proven effective treatments, but the efficacy has been demonstrated mainly on motor improvement in adults with a typical and severe form of GBS. In clinical practice, treatment dilemmas may occur in patients with a relatively mild presentation, variant forms of GBS, or when the onset of weakness was more than 2 weeks ago. Other therapeutic dilemmas may arise in patients who do not improve or even progress after initial treatment...
November 11, 2016: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/27804958/dominant-variants-in-the-splicing-factor-puf60-cause-a-recognizable-syndrome-with-intellectual-disability-heart-defects-and-short-stature
#17
Salima El Chehadeh, Wilhelmina S Kerstjens-Frederikse, Julien Thevenon, Paul Kuentz, Ange-Line Bruel, Christel Thauvin-Robinet, Candace Bensignor, Hélène Dollfus, Vincent Laugel, Jean-Baptiste Rivière, Yannis Duffourd, Caroline Bonnet, Matthieu P Robert, Rodica Isaiko, Morgane Straub, Catherine Creuzot-Garcher, Patrick Calvas, Nicolas Chassaing, Bart Loeys, Edwin Reyniers, Geert Vandeweyer, Frank Kooy, Miroslava Hančárová, Marketa Havlovicová, Darina Prchalová, Zdenek Sedláček, Christian Gilissen, Rolph Pfundt, Jolien S Klein Wassink-Ruiter, Laurence Faivre
Verheij syndrome, also called 8q24.3 microdeletion syndrome, is a rare condition characterized by ante- and postnatal growth retardation, microcephaly, vertebral anomalies, joint laxity/dislocation, developmental delay (DD), cardiac and renal defects and dysmorphic features. Recently, PUF60 (Poly-U Binding Splicing Factor 60 kDa), which encodes a component of the spliceosome, has been discussed as the best candidate gene for the Verheij syndrome phenotype, regarding the cardiac and short stature phenotype...
January 2016: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/27793082/dwarfism-with-joint-laxity-in-friesian-horses-is-associated-with-a-splice-site-mutation-in-b4galt7
#18
Peter A Leegwater, Manon Vos-Loohuis, Bart J Ducro, Iris J Boegheim, Frank G van Steenbeek, Isaac J Nijman, Glen R Monroe, John W M Bastiaansen, Bert W Dibbits, Leanne H van de Goor, Ids Hellinga, Willem Back, Anouk Schurink
BACKGROUND: Inbreeding and population bottlenecks in the ancestry of Friesian horses has led to health issues such as dwarfism. The limbs of dwarfs are short and the ribs are protruding inwards at the costochondral junction, while the head and back appear normal. A striking feature of the condition is the flexor tendon laxity that leads to hyperextension of the fetlock joints. The growth plates of dwarfs display disorganized and thickened chondrocyte columns. The aim of this study was to identify the gene defect that causes the recessively inherited trait in Friesian horses to understand the disease process at the molecular level...
October 28, 2016: BMC Genomics
https://www.readbyqxmd.com/read/27790627/microarray-screening-of-guillain-barr%C3%A3-syndrome-sera-for-antibodies-to-glycolipid-complexes
#19
Susan K Halstead, Gabriela Kalna, Mohammad B Islam, Israt Jahan, Quazi D Mohammad, Bart C Jacobs, Hubert P Endtz, Zhahirul Islam, Hugh J Willison
OBJECTIVE: To characterize the patterns of autoantibodies to glycolipid complexes in a large cohort of Guillain-Barré syndrome (GBS) and control samples collected in Bangladesh using a newly developed microarray technique. METHODS: Twelve commonly studied glycolipids and lipids, plus their 66 possible heteromeric complexes, totaling 78 antigens, were applied to polyvinylidene fluoride-coated slides using a microarray printer. Arrays were probed with 266 GBS and 579 control sera (2 μL per serum, diluted 1/50) and bound immunoglobulin G detected with secondary antibody...
December 2016: Neurology® Neuroimmunology & Neuroinflammation
https://www.readbyqxmd.com/read/27789363/factors-determining-responses-to-azacitidine-in-patients-with-myelodysplastic-syndromes-and-acute-myeloid-leukemia-with-early-post-transplantation-relapse-a-prospective-trial
#20
Janghee Woo, H Joachim Deeg, Barry Storer, Cecilia Yeung, Min Fang, Marco Mielcarek, Bart L Scott
Retrospective analyses suggest a benefit of therapy with hypomethylating agents in patients with myelodysplastic syndromes (MDS) or acute myeloid leukemia (AML) who relapse after allogeneic hematopoietic cell transplantation (HCT). We conducted a prospective trial in 39 patients with MDS or AML who relapsed within 100 days of HCT. Relapse was documented by morphology, flow cytometry, or cytogenetics. Treatment consisted of 5-azacitidine, 75 mg/m(2)/day for 7 days, administered every 28 days. Patients were followed by sequential marrow examinations, and responses were assessed at 6 months...
January 2017: Biology of Blood and Marrow Transplantation
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