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https://www.readbyqxmd.com/read/28341588/targeted-next-generation-sequencing-of-51-genes-involved-in-primary-electrical-disease
#1
Dorien Proost, Johan Saenen, Geert Vandeweyer, Annelies Rotthier, Maaike Alaerts, Emeline M Van Craenenbroeck, Joachim Van Crombruggen, Geert Mortier, Wim Wuyts, Christiaan Vrints, Jurgen Del Favero, Bart Loeys, Lut Van Laer
Primary electrical disease (PED) is characterized by cardiac arrhythmias, which can lead to sudden cardiac death in the absence of detectable structural heart disease. PED encompasses a diversity of inherited syndromes, predominantly Brugada syndrome, early repolarization syndrome, long QT syndrome, short QT syndrome, arrhythmogenic right ventricular cardiomyopathy, and catecholaminergic polymorphic ventricular tachycardia. To overcome the diagnostic challenges imposed by the clinical and genetic heterogeneity of PED, we developed a targeted gene panel for next-generation sequencing of 51 PED genes...
March 21, 2017: Journal of Molecular Diagnostics: JMD
https://www.readbyqxmd.com/read/28285880/phenotypic-screening-identifies-modulators-of-amyloid-precursor-protein-processing-in-human-stem-cell-models-of-alzheimer-s-disease
#2
Philip W Brownjohn, James Smith, Erik Portelius, Lutgarde Serneels, Hlin Kvartsberg, Bart De Strooper, Kaj Blennow, Henrik Zetterberg, Frederick J Livesey
Human stem cell models have the potential to provide platforms for phenotypic screens to identify candidate treatments and cellular pathways involved in the pathogenesis of neurodegenerative disorders. Amyloid precursor protein (APP) processing and the accumulation of APP-derived amyloid β (Aβ) peptides are key processes in Alzheimer's disease (AD). We designed a phenotypic small-molecule screen to identify modulators of APP processing in trisomy 21/Down syndrome neurons, a complex genetic model of AD. We identified the avermectins, commonly used as anthelmintics, as compounds that increase the relative production of short Aβ peptides at the expense of longer, potentially more toxic peptides...
March 6, 2017: Stem Cell Reports
https://www.readbyqxmd.com/read/28285055/the-role-of-routine-peritoneal-and-omental-biopsies-at-risk-reducing-salpingo-oophorectomy
#3
Heather Miller, Laura S Pipkin, Celestine Tung, Tracilyn R Hall, Ramya P Masand, Matthew L Anderson
STUDY OBJECTIVE: Assess the potential role of peritoneal and omental biopsies in women undergoing risk-reducing salpingo-oopherectomy (RRSO) for prophylactic management of hereditary breast/ovarian cancer syndromes (HBOC). DESIGN: Retrospective observational cohort DESIGN: Classification: II.1 SETTING: Academic gynecology practice PATIENTS: All women who underwent RRSO for a high risk BRCA1/2 mutation or deletion at a single institution between January, 2003 and June, 2016...
March 8, 2017: Journal of Minimally Invasive Gynecology
https://www.readbyqxmd.com/read/28275598/bilateral-ocular-myositis-associated-with-whipple-s-disease
#4
Vivak Parkash, Hardeep Singh Mudhar, Bart E Wagner, Didier Raoult, Ruth Batty, Hubert Lepidi, John Burke, Paul Collini, Thushan de Silva
PURPOSE: To describe the clinical features of a Caucasian female patient with a history of treated gastrointestinal Whipple's disease (WD) who developed new-onset diplopia, with a description of the histopathological features of the extraocular muscle biopsies. METHODS: A previously fit 38-year-old Caucasian female presented with acute-onset diplopia after being on a sustained medication regime for biopsy-proven gastrointestinal WD. A magnetic resonance imaging scan of her orbits with gadolinium revealed diffuse enhancement of the bellies of the extraocular muscles bilaterally, particularly the medial rectus, superior rectus, and superior oblique muscles, consistent with an infiltrative myositis...
January 2017: Ocular Oncology and Pathology
https://www.readbyqxmd.com/read/28251358/diagnosis-of-guillain-barr%C3%A3-syndrome-in-children-and-validation-of-the-brighton-criteria
#5
Joyce Roodbol, Marie-Claire Y de Wit, Bianca van den Berg, Vivienne Kahlmann, Judith Drenthen, Coriene E Catsman-Berrevoets, Bart C Jacobs
To describe the key diagnostic features of pediatric Guillain-Barré syndrome (GBS) and validate the Brighton criteria. Retrospective cohort study of all children (<18 years) diagnosed with GBS between 1987 and 2013 at Sophia Children's Hospital, Erasmus MC, Rotterdam. Clinical information was collected and the sensitivity of the Brighton criteria was calculated. 67 children (35 boys) were included, with a median age of 5.0 years [interquartile range (IQR) 3.0-10.0 years]. Bilateral limb weakness was present at hospital admission in 93% of children, and at nadir in all patients...
March 1, 2017: Journal of Neurology
https://www.readbyqxmd.com/read/28243924/the-respiratory-pressure-abdominal-volume-curve-in-a-porcine-model
#6
Adrian Regli, Bart Leon De Keulenaer, Bhajan Singh, Lisen Emma Hockings, Bill Noffsinger, Peter Vernon van Heerden
BACKGROUND: Increasing intra-abdominal volume (IAV) can lead to intra-abdominal hypertension (IAH) or abdominal compartment syndrome. Both are associated with raised morbidity and mortality. IAH can increase airway pressures and impair ventilation. The relationship between increasing IAV and airway pressures is not known. We therefore assessed the effect of increasing IAV on airway and intra-abdominal pressures (IAP). METHODS: Seven pigs (41.4 +/-8.5 kg) received standardized anesthesia and mechanical ventilation...
December 2017: Intensive Care Medicine Experimental
https://www.readbyqxmd.com/read/28209655/mutational-analysis-in-serial-marrow-samples-during-azacitidine-treatment-in-patients-with-post-transplant-relapse-of-acute-myeloid-leukemia-or-myelodysplastic-syndromes
#7
Janghee Woo, Nicholas P Howard, Barry E Storer, Min Fang, Cecilia C Yeung, Bart L Scott, H Joachim Deeg
No abstract text is available yet for this article.
February 16, 2017: Haematologica
https://www.readbyqxmd.com/read/28169448/bold-perch-live-life-in-the-fast-lane
#8
Bart Adriaenssens
A schematic summary showing the links between behaviour and life-history observed by Nakayama, Rapp & Arlinghaus in wild Eurasion perch (Perca fluviatilis). [Colour figure can be viewed at wileyonlinelibrary.com]. In Focus: Nakayama, S., Rapp, T. & Arlinghaus, R. (2017) Fast-slow life history is correlated with individual differences in movements and prey selection in an aquatic predator in the wild. Journal of Animal Ecology, 86, 192-201. The pace-of-life syndrome hypothesis (POLS) suggests that individual behavioural variation co-evolves with life-history variation, causing individuals on a fast life-history trajectory to display more active or bold personalities than individuals following a slow trajectory...
March 2017: Journal of Animal Ecology
https://www.readbyqxmd.com/read/28169189/ovarian-stimulation-protocols-for-ivf-is-more-better-than-less
#9
REVIEW
Michael M Alper, Bart C Fauser
Conventional ovarian stimulation protocols for IVF are designed to achieve maximum oocyte yields. Conventional protocols, however, are associated with patient discomfort, increased risk of ovarian hyperstimulation syndrome and higher costs. In recent years, mild stimulation protocols have risen in popularity. These protocols typically use lower doses (≤150 IU/day), shorter duration of exogenous gonadotrophins, or both, compared with conventional protocols, with the goal of limiting the number of retrieved oocytes to less than eight...
January 24, 2017: Reproductive Biomedicine Online
https://www.readbyqxmd.com/read/28102232/aetiology-and-management-of-hereditary-aortopathy
#10
REVIEW
Aline Verstraeten, Ilse Luyckx, Bart Loeys
Aortic aneurysms are a major health problem because they account for 1-2% of all deaths in the Western population. Although abdominal aortic aneurysms (AAAs) are more prevalent than thoracic aortic aneurysms (TAAs), TAAs have been more exhaustively studied over the past 2 decades because they have a higher heritability and affect younger individuals. Gene identification in both syndromic and nonsyndromic TAA is proceeding at a rapid pace and has already pinpointed >20 genes associated with familial TAA risk...
April 2017: Nature Reviews. Cardiology
https://www.readbyqxmd.com/read/28074147/cerebellar-ataxia-and-sensory-ganglionopathy-associated-with-light-chain-myeloma
#11
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
#12
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...
February 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
#13
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 to have 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...
February 1, 2017: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/28057638/an-international-registry-of-survivors-with-hb-bart-s-hydrops-fetalis-syndrome
#14
REVIEW
Duantida Songdej, Christian Babbs, Douglas R Higgs
Hemoglobin (Hb) Bart's hydrops fetalis syndrome (BHFS) resulting from α(0)-thalassemia is considered a universally fatal disorder. However, over the last 3 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...
March 9, 2017: Blood
https://www.readbyqxmd.com/read/28054365/mapping-for-acute-transvenous-phrenic-nerve-stimulation-study-maps-study
#15
Lukas R C Dekker, Bart Gerritse, Avram Scheiner, Lilian Kornet
BACKGROUND: 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 multielectrode electrophysiology catheter was subsequently placed at 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)...
March 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
#16
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
#17
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...
February 1, 2017: JAMA Neurology
https://www.readbyqxmd.com/read/27993616/quantitative-multi-target-rna-profiling-in-epstein-barr-virus-infected-tumor-cells
#18
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
#19
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
#20
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)...
February 2017: Fertility and Sterility
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