keyword
MENU ▼
Read by QxMD icon Read
search

bart syndrome

keyword
https://www.readbyqxmd.com/read/29128194/treatment-of-electrical-status-epilepticus-in-sleep-clinical-and-eeg-characteristics-and-response-to-147-treatments-in-47-patients
#1
Bart van den Munckhof, Christian Alderweireld, Susanne Davelaar, Heleen C van Teeseling, Stavros Nikolakopoulos, Kees P J Braun, Floor E Jansen
OBJECTIVE: Electrical status epilepticus in sleep (ESES) syndrome is characterized by near-continuous sleep-induced epileptiform activity and acquired cognitive deficits. Treatment is assumed mandatory to improve cognitive outcome. We aimed to compare EEG characteristics, subjective evaluation and objective neuropsychological assessment as measures to evaluate treatment efficacy, and to analyze possible predictors. METHODS: We retrospectively included patients with ESES syndrome treated in our center...
October 26, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/29114051/dscam-mediated-control-of-dendritic-and-axonal-arbor-outgrowth-enforces-tiling-and-inhibits-synaptic-plasticity
#2
Aaron B Simmons, Samuel J Bloomsburg, Joshua M Sukeena, Calvin J Miller, Yohaniz Ortega-Burgos, Bart G Borghuis, Peter G Fuerst
Mature mammalian neurons have a limited ability to extend neurites and make new synaptic connections, but the mechanisms that inhibit such plasticity remain poorly understood. Here, we report that OFF-type retinal bipolar cells in mice are an exception to this rule, as they form new anatomical connections within their tiled dendritic fields well after retinal maturity. The Down syndrome cell-adhesion molecule (Dscam) confines these anatomical rearrangements within the normal tiled fields, as conditional deletion of the gene permits extension of dendrite and axon arbors beyond these borders...
November 7, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29073292/tofi-phenotype-its-effect-on-the-occurrence-of-diabetes
#3
REVIEW
Zygmunt Zdrojewicz, Ewa Popowicz, Marta Szyca, Tomasz Michalik, Bartłomiej Śmieszniak
Recent studies have reported a significant increase in the incidence of type 2 diabetes in the past 30 years. They also predict that this trend will continue. This is related to a change in lifestyle, which results in a parallel increase in the incidence of overweight and obesity. However, symptoms of the metabolic syndrome, so far closely related to abdominal obesity, are relatively common among people with normal body mass index (BMI) and waist circumference. The aim of the study is to present the TOFI phenotype (thin outside, fat inside) as an important factor in pathogenesis of type 2 diabetes...
2017: Pediatric Endocrinology, Diabetes, and Metabolism
https://www.readbyqxmd.com/read/29065229/prediction-of-disease-progression-in-miller-fisher-and-overlap-syndromes
#4
Christine Verboon, Heleen van Berghem, Pieter A van Doorn, Liselotte Ruts, Bart C Jacobs
BACKGROUND: Patients with Miller Fisher syndrome (MFS) may have a relatively mild clinical course or progress to Guillain-Barré syndrome with limb weakness (MFS-GBS overlap syndrome). Other variants in this spectrum are GBS with ophthalmoparesis and Bickerstaff's Brainstem encephalitis (BBE). AIM: To compare the clinical course of MFS and overlap syndromes and to identify predictors of disease progression. METHODS: In a prospective study of 170 patients with GBS and variant forms, 37 (22%) had a MFS, MFS-GBS overlap syndrome, ophthalmoplegic GBS or BBE...
October 24, 2017: Journal of the Peripheral Nervous System: JPNS
https://www.readbyqxmd.com/read/29034440/risperidone-induced-metabolic-dysfunction-is-attenuated-by-curcuma-longa-extract-administration-in-mice
#5
Florent Auger, Françoise Martin, Olivier Pétrault, Jennifer Samaillie, Thierry Hennebelle, Mohamed-Sami Trabelsi, François Bailleul, Bart Staels, Régis Bordet, Patrick Duriez
Antipsychotics, such as risperidone, increase food intake and induce alteration in glucose and lipid metabolism concomitantly with overweight and body fat increase, these biological abnormalities belong to the metabolic syndrome definition (high visceral adiposity, hypertriglyceridemia, hyperglycemia, low HDL-cholesterol and high blood pressure). Curcumin is a major component of traditional turmeric (Curcuma longa) which has been reported to improve lipid and glucose metabolism and to decrease weight in obese mice...
October 16, 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/29033814/a-case-of-aplasia-cutis-congenita-type-vi-bart-syndrome
#6
Yasmin Alfayez, Sahar Alsharif, Adel Santli
Aplasia cutis congenita type VI, also known as Bart syndrome, is a rare genetic mechanobullous disorder characterized by congenital localized absence of skin, mucocutaneous blistering lesions, and nail abnormalities. We present the case of a 4-h-old male newborn who presented with complete absence of skin over the anteromedial aspect of both lower legs associated with nail dystrophy since birth. After a few days, he developed blisters that were consistent with epidermolysis bullosa in histopathological examination...
May 2017: Case Reports in Dermatology
https://www.readbyqxmd.com/read/29032940/molecular-basis-of-%C3%AE-thalassemia
#7
REVIEW
Samaneh Farashi, Cornelis L Harteveld
α-Thalassemia is an inherited, autosomal recessive, disorder characterized by a microcytic hypochromic anemia. It is one of the most common monogenic gene disorders in the world population. The clinical severity varies from almost asymptomatic, to mild microcytic hypochromic, and to a lethal hemolytic condition, called Hb Bart's Hydrops Foetalis Syndrome. The molecular basis are usually deletions and less frequently, point mutations affecting the expression of one or more of the duplicated α-genes. The clinical variation and increase in disease severity is directly related to the decreased expression of one, two, three or four copies of the α-globin genes...
September 21, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/29023811/placental-growth-factor-inhibition-targets-pulmonary-angiogenesis-and-represents-a-novel-therapy-for-hepatopulmonary-syndrome-in-mice
#8
Sarah Raevens, Anja Geerts, Annelies Paridaens, Sander Lefere, Xavier Verhelst, Anne Hoorens, Jo Van Dorpe, Tania Maes, Ken R Bracke, Christophe Casteleyn, Bart Jonckx, Thomas Horvatits, Valentin Fuhrmann, Hans Van Vlierberghe, Christophe Van Steenkiste, Lindsey Devisscher, Isabelle Colle
Hepatopulmonary syndrome (HPS) is a severe complication of cirrhosis with increased risk of mortality. Pulmonary microvascular alterations are key features of HPS, but underlying mechanisms are incompletely understood, and studies on HPS are limited to rats. Placental growth factor (PlGF), a pro-angiogenic molecule that is selectively involved in pathological angiogenesis, may play an important role in HPS development, however, its role has never been investigated. In this study, we validated an HPS model by common bile duct ligation (CBDL) in mice, investigated the kinetic changes in pulmonary angiogenesis and inflammation during HPS development, and provide evidence for a novel therapeutic strategy by targeting pathological angiogenesis...
October 10, 2017: Hepatology: Official Journal of the American Association for the Study of Liver Diseases
https://www.readbyqxmd.com/read/29020176/dpp4-the-mers-coronavirus-receptor-is-upregulated-in-lungs-of-smokers-and-copd-patients
#9
Leen J M Seys, W Widagdo, Fien M Verhamme, Alex Kleinjan, Wim Janssens, Guy F Joos, Ken R Bracke, Bart L Haagmans, Guy G Brusselle
Background: Middle East respiratory syndrome coronavirus (MERS-CoV) causes pneumonia with a relatively high case fatality rate in humans. Smokers and chronic obstructive pulmonary disease (COPD) patients have been reported to be more susceptible to MERS-CoV infection. Here, we determined the expression of MERS-CoV receptor, dipeptidyl peptidase IV (DPP4), in lung tissues of smokers without airflow limitation and COPD patients in comparison to non-smoking individuals (never-smokers). Methods: DPP4 expression was measured in lung tissue of lung resection specimens of never-smokers, smokers without airflow limitation, COPD GOLD stage II patients and in lung explants of end-stage COPD patients...
August 17, 2017: Clinical Infectious Diseases: An Official Publication of the Infectious Diseases Society of America
https://www.readbyqxmd.com/read/28987660/partial-anomalous-pulmonary-venous-return-in-turner-syndrome
#10
Allard T van den Hoven, Raluca G Chelu, Anthonie L Duijnhouwer, Laurent Demulier, Daniel Devos, Koen Nieman, Maarten Witsenburg, Annemien E van den Bosch, Bart L Loeys, Iris M van Hagen, Jolien W Roos-Hesselink
PURPOSE: The aim of this study is to describe the prevalence, anatomy, associations and clinical impact of partial anomalous pulmonary venous return in patients with Turner syndrome. METHODS AND RESULTS: All Turner patients who presented at our Turner clinic, between January 2007 and October 2015 were included in this study and underwent ECG, echocardiography and advanced imaging such as cardiac magnetic resonance or computed tomography as part of their regular clinical workup...
October 2017: European Journal of Radiology
https://www.readbyqxmd.com/read/28975040/small-volume-plasma-exchange-for-guillain-barr%C3%A3-syndrome-in-resource-poor-settings-a-safety-and-feasibility-study
#11
Md Badrul Islam, Zhahirul Islam, Shafiqur Rahman, Hubert P Endtz, Margreet C Vos, Mathieu van der Jagt, Pieter A van Doorn, Bart C Jacobs, Quazi D Mohammad
BACKGROUND: In Bangladesh, most patients with Guillain-Barré syndrome (GBS) cannot afford standard treatment with intravenous immunoglobulin (IVIG) or a standard plasma exchange (PE) course, which partly explains the high rate of mortality and residual disability associated with GBS in this country. Small volume plasma exchange (SVPE) is an affordable and potentially effective alternative form of plasma exchange. SVPE is the repeated removal of small volumes of supernatant plasma over several days via sedimentation of patient whole blood...
2017: Pilot and Feasibility Studies
https://www.readbyqxmd.com/read/28965549/mild-stimulation-for-in%C3%A2-vitro-fertilization
#12
REVIEW
Geeta Nargund, Adrija Kumar Datta, Bart C J M Fauser
It has been proven that the use of high gonadotropin dose does not necessarily improve the final outcome of IVF. Mild ovarian stimulation is based on the principle of optimal utilization of competent oocytes/embryos and endometrial receptivity. There is growing evidence that the pregnancy or live birth rates with mild-stimulation protocols are comparable to those with conventional IVF; the cumulative pregnancy outcome has been shown to be no different, despite having fewer numbers of oocytes or embryos available with milder ovarian stimulation...
October 2017: Fertility and Sterility
https://www.readbyqxmd.com/read/28952829/mental-fatigue-and-physical-and-cognitive-performance-during-a-two-bout-exercise-test
#13
Susan Vrijkotte, Romain Meeusen, Cloe Vandervaeren, Luk Buyse, Jeroen van Cutsem, Nathalie Pattyn, Bart Roelands
PURPOSE: The two bout exercise protocol has been developed to diagnose non-functional overreaching (NFO) and the 'Overtraining Syndrome' (OTS). It consists of two maximal exercise bouts separated by 4 hours. Mental fatigue negatively influences performance but the effects of its occurrence during the two bout exercise protocol have never been investigated. The aim of this study was to examine whether mental fatigue (induced during the rest period) influences physical and cognitive performance during/after the second exercise bout of the two bout exercise protocol...
September 27, 2017: International Journal of Sports Physiology and Performance
https://www.readbyqxmd.com/read/28947563/cardiovascular-benefits-of-moderate-exercise-training-in-marfan-syndrome-insights-from-an-animal-model
#14
Aleksandra Mas-Stachurska, Anna-Maria Siegert, Monsterrat Batlle, Darya Gorbenko Del Blanco, Thayna Meirelles, Cira Rubies, Fabio Bonorino, Carla Serra-Peinado, Bart Bijnens, Julio Baudin, Marta Sitges, Lluís Mont, Eduard Guasch, Gustavo Egea
BACKGROUND: Marfan syndrome (MF) leads to aortic root dilatation and a predisposition to aortic dissection, mitral valve prolapse, and primary and secondary cardiomyopathy. Overall, regular physical exercise is recommended for a healthy lifestyle, but dynamic sports are strongly discouraged in MF patients. Nonetheless, evidence supporting this recommendation is lacking. Therefore, we studied the role of long-term dynamic exercise of moderate intensity on the MF cardiovascular phenotype...
September 25, 2017: Journal of the American Heart Association
https://www.readbyqxmd.com/read/28942118/carpal-tunnel-syndrome-effectiveness-of-physical-therapy-and-electrophysical-modalities-an-updated-systematic-review-of-randomized-controlled-trials
#15
REVIEW
Bionka M A Huisstede, Peter Hoogvliet, Thierry P C Franke, Manon S Randsdorp, Bart W Koes
OBJECTIVE: To review scientific literature studying the effectiveness of physical therapy and electrophysical modalities for carpal tunnel syndrome (CTS). DATA SOURCES: The Cochrane Library, PubMed, EMBASE, CINAHL, and PEDro. STUDY SELECTION: Two reviewers independently applied the inclusion criteria to select potential eligible studies. DATA EXTRACTION: Two reviewers independently extracted the data and assessed the methodological quality using the Cochrane Risk of Bias Tool...
September 20, 2017: Archives of Physical Medicine and Rehabilitation
https://www.readbyqxmd.com/read/28939546/using-smart-technology-to-improve-outcomes-in-myocardial-infarction-patients-rationale-and-design-of-a-protocol-for-a-randomized-controlled-trial-the-box
#16
Roderick Willem Treskes, Louise Anna van Winden, Nicole van Keulen, Douwe Ekke Atsma, Enno Tjeerd van der Velde, Elske van den Akker-van Marle, Bart Mertens, Martin Jan Schalij
BACKGROUND: Recent evidence suggests that frequent monitoring using smartphone-compatible wearable technologies might improve clinical effectiveness and patient satisfaction of care. OBJECTIVE: The aim of this study is to investigate the clinical effectiveness and patient satisfaction of a smart technology intervention in patients admitted with a ST elevation myocardial infarction (STEMI) or non-ST acute coronary syndrome (NST-ACS). METHODS: In this single center, open, randomized controlled trial patients who suffered from STEMI or NST-ACS will be randomized 1:1 to an intervention group or control group...
September 22, 2017: JMIR Research Protocols
https://www.readbyqxmd.com/read/28938420/bone-structural-characteristics-and-response-to-bisphosphonate-treatment-in-children-with-hajdu-cheney-syndrome
#17
Sophia Sakka, Rachel I Gafni, Justin H Davies, Bart Clarke, Peter Tebben, Mark Samuels, Vrinda Saraff, Klaus Klaushofer, Nadja Fratzl-Zelman, Paul Roschger, Frank Rauch, Wolfgang Högler
Context: Hajdu-Cheney syndrome (HJCYS) is a rare, multisystem bone disease caused by heterozygous mutations in the NOTCH2 gene. Histomorphometric and bone ultrastructural analyses in children have not been reported and sparse evidence exists on response to bisphosphonate (BP) therapy. Objective: To investigate clinical and bone histomorphometric characteristics, bone matrix mineralization, and the response of bone geometry and density to BP therapy. Patients: Five children with HJCYS (three males) between 6...
November 1, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28932572/chronic-lung-allograft-dysfunction-phenotypes-and-treatment
#18
REVIEW
Stijn E Verleden, Robin Vos, Bart M Vanaudenaerde, Geert M Verleden
Chronic lung allograft dysfunction (CLAD) remains a major hurdle limiting long-term survival post lung transplantation. Given the clinical heterogeneity of CLAD, recently two phenotypes of CLAD have been defined [bronchiolitis obliterans syndrome (BOS) vs. restrictive allograft syndrome (RAS) or restrictive CLAD (rCLAD)]. BOS is characterized by an obstructive pulmonary function, air trapping on CT and obliterative bronchiolitis (OB) on histopathology, while RAS/rCLAD patients show a restrictive pulmonary function, persistent pleuro-parenchymal infiltrates on CT and pleuroparenchymal fibro-elastosis on biopsies...
August 2017: Journal of Thoracic Disease
https://www.readbyqxmd.com/read/28923942/identification-of-sialic-acid-binding-function-for-the-middle-east-respiratory-syndrome-coronavirus-spike-glycoprotein
#19
Wentao Li, Ruben J G Hulswit, Ivy Widjaja, V Stalin Raj, Ryan McBride, Wenjie Peng, W Widagdo, M Alejandra Tortorici, Brenda van Dieren, Yifei Lang, Jan W M van Lent, James C Paulson, Cornelis A M de Haan, Raoul J de Groot, Frank J M van Kuppeveld, Bart L Haagmans, Berend-Jan Bosch
Middle East respiratory syndrome coronavirus (MERS-CoV) targets the epithelial cells of the respiratory tract both in humans and in its natural host, the dromedary camel. Virion attachment to host cells is mediated by 20-nm-long homotrimers of spike envelope protein S. The N-terminal subunit of each S protomer, called S1, folds into four distinct domains designated S1(A) through S1(D) Binding of MERS-CoV to the cell surface entry receptor dipeptidyl peptidase 4 (DPP4) occurs via S1(B) We now demonstrate that in addition to DPP4, MERS-CoV binds to sialic acid (Sia)...
October 3, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28891183/primary-percutaneous-coronary-intervention-for-inferior-st-segment-elevation-myocardial-infarction-in-a-patient-supported-by-the-heartware-left-ventricular-assist-device
#20
Roberto Spina, Maithri Siriwardena, Nicole Bart, Mayooran Namasivayam, Mark Connellan, Paul Jansz, Philip Spratt, Christopher S Hayward, Eugene Kotlyar, Brendan Gunalingam
A 63-year-old man with an ischaemic cardiomyopathy, supported by the HeartWare left ventricular assist device (LVAD), presented with ventricular tachycardia and inferior ST-elevation myocardial infarction (STEMI) with associated acute right ventricular (RV) dysfunction. He underwent primary percutaneous coronary intervention with balloon angioplasty and placement of three drug-eluting stents in the proximal-to-mid right coronary artery. Post-procedure, ventricular arrhythmias abated, RV systolic dysfunction resolved and RV size normalised...
September 2017: Internal Medicine Journal
keyword
keyword
102211
1
2
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"