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https://www.readbyqxmd.com/read/29753405/cardiovascular-disease-risk-in-children-with-kidney-disease
#1
REVIEW
Christine B Sethna, Kumail Merchant, Abigail Reyes
Cardiovascular disease is a major cause of death in individuals diagnosed with kidney disease during childhood. Children with kidney disease often incur a significant cardiovascular burden that leads to increased risk for cardiovascular disease. Evidence has shown that children with kidney disease, including chronic kidney disease, dialysis, kidney transplantation, and nephrotic syndrome, develop abnormalities in cardiovascular markers such as hypertension, dyslipidemia, left ventricular hypertrophy, left ventricular dysfunction, atherosclerosis, and aortic stiffness...
May 2018: Seminars in Nephrology
https://www.readbyqxmd.com/read/29751004/mutations-affecting-the-actin-regulator-wdr1-lead-to-aberrant-lymphoid-immunity
#2
Laurène Pfajfer, Nina K Mair, Raúl Jiménez-Heredia, Ferah Genel, Nesrin Gulez, Ömür Ardeniz, Birgit Hoeger, Sevgi Köstel Bal, Christoph Madritsch, Artem Kalinichenko, Rico Chandra Ardy, Bengü Gerçeker, Javier Rey-Barroso, Hanna Ijspeert, Stuart G Tangye, Ingrid Simonitsch-Klupp, Johannes B Huppa, Mirjam van der Burg, Loïc Dupré, Kaan Boztug
BACKGROUND: The actin-interacting protein WDR1 promotes cofilin-dependent actin filament turnover. Biallelic WDR1 mutations have recently been identified in an immunodeficiency/autoinflammatory syndrome with aberrant morphology and function of myeloid cells. OBJECTIVE: Given the pleiotropic expression of WDR1, we here investigated to what extent it might control the lymphoid arm of the immune system in humans. METHODS: Histological and detailed immunological analyses were performed to elucidate the role of WDR1 in development and function of B and T lymphocytes...
May 8, 2018: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/29750290/neonatal-intestinal-obstruction-syndrome
#3
Manuel Gil Vargas, Mariana L Miguel-Sardaneta, Michelle Rosas-Téllez, Dayana Pereira-Reyes, Jaime M Justo-Janeiro
Neonatal intestinal obstruction is caused by an anatomical abnormality that produces bowel movement failure. Intestinal obstruction presents with three classic clinical signs: vomiting, abdominal distention, and failure to pass meconium. Intestinal obstruction is one of the most common causes for admitting a pediatric patient to the pediatric surgery unit in his or her first weeks of postnatal life. Congenital obstruction of the digestive tract in neonates is a common problem, with the most frequent cause being anorectal malformations (41%), followed by esophageal obstruction (24%), and duodenal obstruction (20%)...
May 1, 2018: Pediatric Annals
https://www.readbyqxmd.com/read/29747579/burnout-syndrome-and-its-prevalence-in-primary-care-nursing-a-systematic-review-and-meta-analysis
#4
Carolina S Monsalve-Reyes, Concepción San Luis-Costas, Jose L Gómez-Urquiza, Luis Albendín-García, Raimundo Aguayo, Guillermo A Cañadas-De la Fuente
BACKGROUND: burnout syndrome is a significant problem in nursing professionals. Although, the unit where nurses work may influence burnout development. Nurses that work in primary care units may be at higher risk of burnout. The aim of the study was to estimate the prevalence of emotional exhaustion, depersonalization and low personal accomplishment in primary care nurses. METHODS: We performed a meta-analysis. We searched Pubmed, CINAHL, Scopus, Scielo, Proquest, CUIDEN and LILACS databases up to September 2017 to identify cross-sectional studies assessing primary care nurses' burnout with the Maslach Burnout Inventory were included...
May 10, 2018: BMC Family Practice
https://www.readbyqxmd.com/read/29734979/executive-and-visuospatial-dysfunction-in-patients-with-primary-restless-legs-syndrome-willis-ekbom-disease-study-of-a-chinese-population
#5
Gen Li, Huidong Tang, Jie Chen, Xuemei Qi, Shengdi Chen, Jianfang Ma
STUDY OBJECTIVES: The aim of the study was to investigate the cognitive function of patients with primary restless legs syndrome/Willis-Ekbom disease (RLS/WED) in a Chinese population. METHODS: A total of 40 patients with RLS/WED who were drug naïve and 40 controls, matched by age, sex, and educational level, were evaluated by cognitive function assessments, including the Chinese version of the Mini-Mental State Examination (MMSE-C), clock drawing test (CDT), Auditory Verbal Learning Test (AVLT), Rey-Osterrieth Complex Figure Test (CFT), and Stroop Color Word Test (SCWT)...
April 30, 2018: Journal of Clinical Sleep Medicine: JCSM: Official Publication of the American Academy of Sleep Medicine
https://www.readbyqxmd.com/read/29730871/the-relationship-of-insight-with-psychopathology-and-neuropsychological-functioning-in-patients-with-schizophrenia
#6
Ahmet Tiryaki, Aykut Karahan, Filiz Civil Arslan
OBJECTIVE: The aim of this study was to investigate the relationship of the different dimensions of insight with clinical variables, symptom severity, and cognitive functions in patients with schizophrenia. METHOD: In this cross-sectional descriptive study,  66  out  patients that applied to the Karadeniz Technical University, Psychiatry Clinic and were diagnosed with schizophrenia according to DSM-IV were evaluated. The patients were evaluated with Structured Clinical Interview for DSM (SCID-I), the Positive and Negative Syndrome Scale (PANSS), the Calgary Depression Scale for Schizophrenia (CDSS), and the Schedule for Assessing the Three Components of Insight (SAI)...
2018: Türk Psikiyatri Dergisi, Turkish Journal of Psychiatry
https://www.readbyqxmd.com/read/29730869/cognitive-features-of-high-functioning-adults-with-autism-and-schizophrenia-spectrum-disorders
#7
Öykü Mançe Çalışır, Eşref Cem Atbaşoğlu, Halise Devrimci Özgüven, Şenay Ölmez
OBJECTIVE: Autism Spectrum Disorder (ASD) and schizophrenia share common features in terms of pathophysiology and clinical appearance. Cognitive deficits are also present in both disorders. However, ASD and schizophrenia are heterogeneous syndromes, and  few  studies  have addressed patients with these disorders who have above average educational attainment. In this study, we assessed the cognitive functions of a group of adult ASD patients with adequate mental development and verbal communication skills (High Functioning Autism, HFA) and compared them with a group of Schizophrenia patients matched for level of education...
2018: Türk Psikiyatri Dergisi, Turkish Journal of Psychiatry
https://www.readbyqxmd.com/read/29718281/comprehensive-endocrine-metabolic-evaluation-of-patients-with-alstr%C3%A3-m-syndrome-compared-to-bmi-matched-controls
#8
Joan C Han, Daniela P Reyes-Capo, Chia-Ying Liu, James C Reynolds, Evrim Turkbey, Ismail Baris Turkbey, Joy Bryant, Jan D Marshall, Jürgen K Naggert, William A Gahl, Jack A Yanovski, Meral Gunay-Aygun
Background: Alström syndrome (AS), a monogenic form of obesity, is caused by recessive mutations in the centrosome- and basal body-associated gene, ALMS1. AS is characterized by retinal dystrophy, sensory hearing loss, cardiomyopathy, childhood obesity, and metabolic derangements. Objective: We sought to characterize the endocrine and metabolic features of AS while accounting for obesity as a confounder by comparing patients with AS to BMI-matched controls. Methods: We evaluated 38 patients with AS (age 2-38y) who were matched with 76 controls (age 2-48y) by age, sex, race, and BMI...
April 27, 2018: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29710228/immune-profiling-of-premalignant-lesions-in-patients-with-lynch-syndrome
#9
Kyle Chang, Melissa W Taggart, Laura Reyes-Uribe, Ester Borras, Erick Riquelme, Reagan M Barnett, Guido Leoni, F Anthony San Lucas, Maria T Catanese, Federica Mori, Maria G Diodoro, Y Nancy You, Ernest T Hawk, Jason Roszik, Paul Scheet, Scott Kopetz, Alfredo Nicosia, Elisa Scarselli, Patrick M Lynch, Florencia McAllister, Eduardo Vilar
Importance: Colorectal carcinomas in patients with Lynch syndrome (LS) arise in a background of mismatch repair (MMR) deficiency, display a unique immune profile with upregulation of immune checkpoints, and response to immunotherapy. However, there is still a gap in understanding the pathogenesis of MMR-deficient colorectal premalignant lesions, which is essential for the development of novel preventive strategies for LS. Objective: To characterize the immune profile of premalignant lesions from a cohort of patients with LS...
April 16, 2018: JAMA Oncology
https://www.readbyqxmd.com/read/29703613/noonan-syndrome-severe-phenotype-and-ptpn11-mutations
#10
Pilar Carrasco Salas, Gertrudis Gómez-Molina, Páxedes Carreto-Alba, Reyes Granell-Escobar, Ignacio Vázquez-Rico, Antonio León-Justel
INTRODUCTION AND OBJECTIVE: Noonan syndrome (NS) is a genetic disorder characterized by a wide range of distinctive features and health problems. It caused in 50% of cases by missense mutations in PTPN11 gene. It has been postulated that it is possible to predict the disease course based into the impact of mutations on the protein. PATIENTS AND METHODS: We report two cases of severe NS phenotype including hydrops fetalis. PTPN11 gene was studied in germinal cells of both patients by sequencing...
April 24, 2018: Medicina Clínica
https://www.readbyqxmd.com/read/29697274/effect-of-eicosapentaenoic-acid-on-body-composition-and-inflammation-markers-in-patients-with-head-and-neck-squamous-cell-cancer-from-a-public-hospital-in-mexico
#11
Obed Solís-Martínez, Valentina Plasa-Carvalho, Geraldine Phillips-Sixtos, Yanelly Trujillo-Cabrera, Arturo Hernández-Cuellar, Gloria E Queipo-García, Eduardo Meaney-Mendiolea, Guillermo M Ceballos-Reyes, Vanessa Fuchs-Tarlovsky
INTRODUCTION: Head and neck cancer patients are at high risk of anorexia-cachexia syndrome and literature shows that Eicosapentaenoic acid (EPA) could regulate it. We aim to determine the EPA effect on body composition and pro-inflammatory markers in patients with head neck cancer. MATERIALS AND METHODS: A randomized single-blind placebo-controlled clinical trial was conducted in patients with head and neck squamous cell cancer who received a polymeric diet with 2 g of EPA or a standard polymeric diet for six weeks before antineoplastic treatment...
May 2018: Nutrition and Cancer
https://www.readbyqxmd.com/read/29694417/executive-function-impairments-in-fibromyalgia-syndrome-relevance-of-clinical-variables-and-body-mass-index
#12
Cristina Muñoz Ladrón de Guevara, María José Fernández-Serrano, Gustavo A Reyes Del Paso, Stefan Duschek
BACKGROUND: Several investigations suggest the presence of deterioration of executive function in fibromyalgia syndrome (FMS). The study quantified executive functions in patients with FMS. A wide array of functions was assessed, including updating, shifting and inhibition, as well as decision making and mental planning. Moreover, clinical variables were investigated as possible mediators of executive dysfunction, including pain severity, psychiatric comorbidity, medication and body mass index (BMI)...
2018: PloS One
https://www.readbyqxmd.com/read/29691127/digenic-heterozigosity-in-scn5a-and-cacna1c-explains-the-variable-expressivity-of-the-long-qt-phenotype-in-a-spanish-family
#13
Paloma Nieto-Marín, Juan Jiménez-Jáimez, David Tinaquero, Silvia Alfayate, Raquel G Utrilla, María Del Mar Rodríguez Vázquez Del Rey, Francesca Perin, Geòrgia Sarquella-Brugada, Lorenzo Monserrat, Josep Brugada, Luis Tercedor, Juan Tamargo, Eva Delpón, Ricardo Caballero
INTRODUCTION AND OBJECTIVES: A known long QT syndrome-related mutation in Nav1.5 cardiac channels (p.R1644H) was found in 4 members of a Spanish family but only 1 of them showed prolongation of the QT interval. In the other 3 relatives, a novel missense mutation in Cav1.2 cardiac channels was found (p.S1961N). Here, we functionally analyzed p.S1961N Cav1.2 channels to elucidate whether this mutation regulates the expressivity of the long QT syndrome phenotype in this family. METHODS: L-type calcium current (ICaL ) recordings were performed by using the whole-cell patch-clamp technique in Chinese hamster ovary cells transiently transfected with native and/or p...
April 21, 2018: Revista Española de Cardiología
https://www.readbyqxmd.com/read/29681093/low-level-expression-of-epg5-leads-to-an-attenuated-vici-syndrome-phenotype
#14
Megan A Waldrop, Felecia Gumienny, Daniel Boue, Emily de Los Reyes, Richard Shell, Robert B Weiss, Kevin M Flanigan
Vici syndrome is a multisystem disorder characterized by agenesis of the corpus callosum, oculocutaneous hypopigmentation, cataracts, cardiomyopathy, combined immunodeficiency, failure to thrive, profound developmental delay, and acquired microcephaly. Most individuals are severely affected and have a markedly reduced life span. Here we describe an 8-year-old boy with a history of developmental delay, agenesis of the corpus callosum, failure to thrive, myopathy, and well-controlled epilepsy. He was initially diagnosed with a mitochondrial disorder, based in part upon nonspecific muscle biopsy findings, but mitochondrial DNA mutation analysis revealed no mutations...
May 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29624878/elastographic-ultrasound-an-additional-image-tool-in-sj%C3%A3-gren-s-syndrome
#15
Eric Kimura-Hayama, Sergio Criales-Vera, Luis Azpeitia-Espinosa, Carlos Pacheco-Molina, Edgardo Reyes, Guadalupe Lima, Diego Hernandez-Ramirez, Luis Llorente, Gabriela Hernandez-Molina
AIM: To evaluate the stiffness of parotid and submandibular glands using elastography ultrasound and to correlate it with B-mode ultrasonographical, clinical and serological features, salivary profibrotic and inflammatory chemokines, and salivary gland fibrosis. METHODS: We performed B-mode and elastography ultrasound of major salivary glands of 26 patients with primary Sjögren's syndrome. We registered the shear wave velocity (SWV) and correlated it with the morphologic ultrasonographic changes assessed by the Hocevar scale...
April 6, 2018: International Journal of Rheumatic Diseases
https://www.readbyqxmd.com/read/29623059/cognitive-impairments-in-fibromyalgia-syndrome-associations-with-positive-and-negative-affect-alexithymia-pain-catastrophizing-and-self-esteem
#16
Carmen M Galvez-Sánchez, Gustavo A Reyes Del Paso, Stefan Duschek
Fibromyalgia syndrome (FMS) is a chronic condition characterized by widespread pain accompanied by symptoms like depression, anxiety, sleep disturbance and fatigue. In addition, affected patients frequently report cognitive disruption such as forgetfulness, concentration difficulties or mental slowness. Though cognitive deficits in FMS have been confirmed in various studies, not much is known about the mechanisms involved in their origin. This study aimed to investigate the contribution of affect-related variables to cognitive impairments in FMS...
2018: Frontiers in Psychology
https://www.readbyqxmd.com/read/29605169/burnout-and-posttraumatic-stress-in-paediatric-critical-care-personnel-prediction-from-resilience-and-coping-styles
#17
Rocío Rodríguez-Rey, Alba Palacios, Jesús Alonso-Tapia, Elena Pérez, Elena Álvarez, Ana Coca, Santiago Mencía, Ana Marcos, Juan Mayordomo-Colunga, Francisco Fernández, Fernando Gómez, Jaime Cruz, Olga Ordóñez, Ana Llorente
INTRODUCTION: Our aims were (1) to explore the prevalence of burnout syndrome (BOS) and posttraumatic stress disorder (PTSD) in a sample of Spanish staff working in the paediatric intensive care unit (PICU) and compare these rates with a sample of general paediatric staff and (2) to explore how resilience, coping strategies, and professional and demographic variables influence BOS and PTSD. MATERIALS AND METHODS: This is a multicentre, cross-sectional study. Data were collected in the PICU and in other paediatric wards of nine hospitals...
March 28, 2018: Australian Critical Care: Official Journal of the Confederation of Australian Critical Care Nurses
https://www.readbyqxmd.com/read/29579829/mortality-analysis-of-acute-liver-failure-in-uruguay
#18
V Mainardi, K Rando, D Olivari, G Rey, J Castelli, G Grecco, A Leites, M Harguindeguy, S Gerona
BACKGROUND: Acute liver failure (ALF) is a syndrome with high mortality. OBJECTIVE: Describe characteristics and outcomes of patients with ALF in Uruguay, and identify factors associated with mortality. METHODS: A retrospective analysis of 33 patients with ALF was performed between 2009 and 2017. RESULTS: The patients' median age was 43 years, and 64% were women. Average Model for End-Stage Liver Disease (MELD) score at admission was 33...
March 2018: Transplantation Proceedings
https://www.readbyqxmd.com/read/29575773/non-invasive-ventilation-practices-in-children-across-europe
#19
Juan Mayordomo-Colunga, Martí Pons-Òdena, Alberto Medina, Corsino Rey, Christophe Milesi, Merja Kallio, Andrea Wolfler, Mireia García-Cuscó, Demet Demirkol, Milagros García-López, Peter Rimensberger
OBJECTIVES: To describe the diversity in practice in non-invasive ventilation (NIV) in European pediatric intensive care units (PICUs). WORKING HYPOTHESIS: No information about the use of NIV in Pediatrics across Europe is currently available, and there might be a wide variability regarding the approach. STUDY DESIGN: Cross-sectional electronic survey. METHODOLOGY: The survey was distributed to the ESPNIC mailing list and to researchers in different European centers...
March 24, 2018: Pediatric Pulmonology
https://www.readbyqxmd.com/read/29547828/benign-rolandic-epilepsy-and-generalized-paroxysms-a-study-of-13-patients
#20
Rodrigo Vargas, Lucas Beltrán, Rafael Lizama, Gabriela Reyes Valenzuela, Roberto Caraballo
PURPOSE: To present a retrospective study of 13 children with benign epilepsy with centrotemporal spikes (BECTS), also known as benign rolandic epilepsy (BRE), associated with generalized spikes and waves as the only EEG manifestation at onset. METHOD: Charts of children with typical clinical criteria of BRE electroclinically followed-up between February 2000 and February 2015 were reviewed. RESULTS: Among 309 patients who met the electroclinical criteria of BRE, we identified 13 children who presented with the typical clinical manifestations but who, on the EEG, only had generalized paroxysms at onset that continued along the course of the syndrome...
April 2018: Seizure: the Journal of the British Epilepsy Association
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