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https://www.readbyqxmd.com/read/27901465/livestock-susceptibility-to-infection-with-middle-east-respiratory-syndrome-coronavirus
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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...
November 2, 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
#8
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
#9
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
#10
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...
October 24, 2016: Biology of Blood and Marrow Transplantation
https://www.readbyqxmd.com/read/27767173/euchromatin-histone-methyltransferase-1-regulates-cortical-neuronal-network-development
#11
Marijn Bart Martens, Monica Frega, Jessica Classen, Lisa Epping, Elske Bijvank, Marco Benevento, Hans van Bokhoven, Paul Tiesinga, Dirk Schubert, Nael Nadif Kasri
Heterozygous mutations or deletions in the human Euchromatin histone methyltransferase 1 (EHMT1) gene cause Kleefstra syndrome, a neurodevelopmental disorder that is characterized by autistic-like features and severe intellectual disability (ID). Neurodevelopmental disorders including ID and autism may be related to deficits in activity-dependent wiring of brain circuits during development. Although Kleefstra syndrome has been associated with dendritic and synaptic defects in mice and Drosophila, little is known about the role of EHMT1 in the development of cortical neuronal networks...
October 21, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27748392/minimal-change-disease-and-idiopathic-fsgs-manifestations-of-the-same-disease
#12
REVIEW
Rutger J Maas, Jeroen K Deegens, Bart Smeets, Marcus J Moeller, Jack F Wetzels
Minimal change disease (MCD) and focal segmental glomerulosclerosis (FSGS) are the key histological findings in patients with idiopathic nephrotic syndrome (INS). Although MCD and idiopathic FSGS are often considered to represent separate entities based on differences in their presenting characteristics, histology and outcomes, little evidence exists for this separation. We propose that MCD and idiopathic FSGS are different manifestations of the same progressive disease. The gradual development of FSGS in patients with non-remitting or relapsing INS has been well documented...
December 2016: Nature Reviews. Nephrology
https://www.readbyqxmd.com/read/27734823/-ibogaine-structure-influence-on-human-body-clinical-relevance
#13
Zygmunt Zdrojewicz, Bartłomiej Kuszczak, Natalia Olszak
Ibogaine is a natural chemical compound, which belongs to the indole alkaloid family. It can be naturally found within the root bark of african plant Tabernanthe iboga. Ibogaine plays a significant role among tribal cultures. Ibogaine, in small amount, causes reduction of hunger, thirst and exhaustion. In bigger amount, however, it can cause intensive visions. Other effects include reduction or complete disappearance of absitnence symptoms visible in people addicted to the nicotine, alcohol, methamphetamine, cocaine or opioids, what has been scientifically proven after the tests on animals and small groups of people...
July 29, 2016: Polski Merkuriusz Lekarski: Organ Polskiego Towarzystwa Lekarskiego
https://www.readbyqxmd.com/read/27724990/identification-of-fbn1-gene-mutations-in-ukrainian-marfan-syndrome-patients
#14
Rustam Zhurayev, Dorien Proost, Dmytro Zerbino, Viktor Fedorenko, Josephina A N Meester, Lut VAN Laer, Bart L Loeys
Marfan syndrome is an autosomal dominant connective tissue disorder, predominantly affecting the ocular, skeletal and cardiovascular systems. Here, we present the results of the first genetic testing in 40 Ukrainian Marfan (-like) patients and 10 relatives. We applied a targeted next generation sequencing panel comprising FBN1 and 13 thoracic aortic aneurysm genes. We identified 27 causal mutations in FBN1, obtaining a mutation yield of 67·5%. A significant difference in age at aortic surgery between mutation positive and negative patients was observed...
October 11, 2016: Genetics Research
https://www.readbyqxmd.com/read/27705091/guillain-barr%C3%A3-syndrome-associated-with-zika-virus-infection-in-colombia
#15
Beatriz Parra, Jairo Lizarazo, Jorge A Jiménez-Arango, Andrés F Zea-Vera, Guillermo González-Manrique, José Vargas, Jorge A Angarita, Gonzalo Zuñiga, Reydmar Lopez-Gonzalez, Cindy L Beltran, Karen H Rizcala, Maria T Morales, Oscar Pacheco, Martha L Ospina, Anupama Kumar, David R Cornblath, Laura S Muñoz, Lyda Osorio, Paula Barreras, Carlos A Pardo
Background Zika virus (ZIKV) infection has been linked to the Guillain-Barré syndrome. From November 2015 through March 2016, clusters of cases of the Guillain-Barré syndrome were observed during the outbreak of ZIKV infection in Colombia. We characterized the clinical features of cases of Guillain-Barré syndrome in the context of this ZIKV infection outbreak and investigated their relationship with ZIKV infection. Methods A total of 68 patients with the Guillain-Barré syndrome at six Colombian hospitals were evaluated clinically, and virologic studies were completed for 42 of the patients...
October 20, 2016: New England Journal of Medicine
https://www.readbyqxmd.com/read/27632686/loss-of-function-mutations-in-the-x-linked-biglycan-gene-cause-a-severe-syndromic-form-of-thoracic-aortic-aneurysms-and-dissections
#16
Josephina A N Meester, Geert Vandeweyer, Isabel Pintelon, Martin Lammens, Lana Van Hoorick, Simon De Belder, Kathryn Waitzman, Luciana Young, Larry W Markham, Julie Vogt, Julie Richer, Luc M Beauchesne, Sheila Unger, Andrea Superti-Furga, Milan Prsa, Rami Dhillon, Edwin Reyniers, Harry C Dietz, Wim Wuyts, Geert Mortier, Aline Verstraeten, Lut Van Laer, Bart L Loeys
PURPOSE: Thoracic aortic aneurysm and dissection (TAAD) is typically inherited in an autosomal dominant manner, but rare X-linked families have been described. So far, the only known X-linked gene is FLNA, which is associated with the periventricular nodular heterotopia type of Ehlers-Danlos syndrome. However, mutations in this gene explain only a small number of X-linked TAAD families. METHODS: We performed targeted resequencing of 368 candidate genes in a cohort of 11 molecularly unexplained Marfan probands...
September 15, 2016: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/27616152/guillain-barr%C3%A3-syndrome-in-bangladesh-validation-of-brighton-criteria
#17
Mohammad Badrul Islam, Zhahirul Islam, Kaniz Sharmin Farzana, Sumit Kumar Sarker, Hubert P Endtz, Quazi Deen Mohammad, Bart C Jacobs
Guillain-Barré syndrome has a diverse clinical phenotype related to geographical origin. To date, the majority of large-scale studies on Guillain-Barré syndrome (GBS) have been conducted in developed countries. We aimed to evaluate the key diagnostic features and assess the suitability of the Brighton criteria in 344 adult GBS patients from Bangladesh. All patients fulfilled the National Institute of Neurological Diseases and Stroke (NINDS) diagnostic criteria. Standardized data on demographic characteristics and clinical features, cerebrospinal fluid (CSF) analysis and nerve conduction study (NCS) results were elaborated to measure the sensitivity of Brighton criteria...
September 12, 2016: Journal of the Peripheral Nervous System: JPNS
https://www.readbyqxmd.com/read/27612033/fluorine-18-fluorocholine-pet-ct-localizes-hyperparathyroidism-in-patients-with-inconclusive-conventional-imaging-a-multicenter-study-from-the-netherlands
#18
Wouter P Kluijfhout, Wessel M C M Vorselaars, Sandra A M van den Berk, Menno R Vriens, Inne H M Borel Rinkes, Gerlof D Valk, Thijs van Dalen, John M H de Klerk, Bart de Keizer
BACKGROUND: Several reports have shown good performance of fluorine-18 fluorocholine (F-FCH) PET-computed tomography (CT) for parathyroid localization, although overall evidence remains scarce. We collected data from three institutions in the Netherlands and investigated the performance of F-FCH PET-CT as a second-line imaging modality. MATERIALS AND METHODS: We performed a retrospective review of all patients at least 18 years who underwent F-FCH PET-CT for biochemically proven hyperparathyroidism (HPT) and inconclusive ultrasound and sestamibi scintigraphy...
September 8, 2016: Nuclear Medicine Communications
https://www.readbyqxmd.com/read/27588529/co-citation-analysis-of-articles-published-in-substance-abuse-journals-intellectual-structure-and-research-fields-2001-2012
#19
Gregorio González-Alcaide, Amador Calafat, Elisardo Becoña, Bart Thijs, Wolfgang Glänzel
OBJECTIVE: The purpose of this study is to introduce a new methodology in the field of substance abuse, namely, co-citation analysis, which uses the bibliographic references of publications to establish the main thematic areas being researched and to identify the seminal documents that have contributed to establishing the intellectual foundation of the discipline at the present time. METHOD: We identified all bibliographic references that were cited in documents published in the substance abuse journals included in the Journal Citation Reports in the 2001-2012 period, generating a co-citation matrix...
September 2016: Journal of Studies on Alcohol and Drugs
https://www.readbyqxmd.com/read/27582382/recognizing-the-tenascin-x-deficient-type-of-ehlers-danlos-syndrome-a-cross-sectional-study-in-17-patients
#20
S Demirdas, E Dulfer, L Robert, M Kempers, D van Beek, D Micha, B G van Engelen, B Hamel, J Schalkwijk, B Loeys, A Maugeri, N C Voermans
The tenascin-X (TNX) deficient type Ehlers-Danlos syndrome (EDS) is similar to the classical type of EDS. Because of the limited awareness among geneticists and the challenge of the molecular analysis of the TNXB gene, the TNX-deficient type EDS is probably to be under diagnosed. We therefore performed an observational, cross-sectional study. History and physical examination were performed. Results of serum TNX measurements were collected and mutation analysis was performed by a combination of next-generation sequencing (NGS), Sanger sequencing and multiplex ligation-dependent probe amplification (MLPA)...
September 1, 2016: Clinical Genetics
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