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Diagnosis related group, seizure

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https://www.readbyqxmd.com/read/28984246/the-role-of-eeg-in-the-diagnosis-and-classification-of-the-epilepsy-syndromes-a-tool-for-clinical-practice-by-the-ilae-neurophysiology-task-force-part-1
#1
Michalis Koutroumanidis, Alexis Arzimanoglou, Roberto Caraballo, Sushma Goyal, Anna Kaminska, Pramote Laoprasert, Hirokazu Oguni, Guido Rubboli, William Tatum, Pierre Thomas, Eugen Trinka, Luca Vignatelli, Solomon L Moshé
The concept of epilepsy syndromes, introduced in 1989, was defined as "clusters of signs and symptoms customarily occurring together". Definition of epilepsy syndromes based on electro-clinical features facilitated clinical practice and, whenever possible, clinical research in homogeneous groups of patients with epilepsies. Progress in the fields of neuroimaging and genetics made it rapidly clear that, although crucial, the electro-clinical description of epilepsy syndromes was not sufficient to allow much needed development of targeted therapies and a better understanding of the underlying pathophysiological mechanisms of seizures...
October 6, 2017: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/28946157/duplex-sonographic-diagnosis-of-perinatal-hemorrhagic-stroke
#2
Karl-Heinz Deeg
Children are particularly at risk for stroke in the neonatal period. Neonatal hemorrhagic stroke is rarer than ischemic stroke. The incidence is 40.7/100 000 live births. Hemorrhagic stroke is caused by a disruption in venous drainage usually due to local thrombosis. As a result of the nonspecific clinical symptoms in this age group, diagnosis is usually made too late. The only relatively specific symptom is a cerebral seizure during the first week of life. Therefore, stroke should be ruled out by diagnostic imaging in the case of any seizure in the first days of life...
October 2017: Ultraschall in der Medizin
https://www.readbyqxmd.com/read/28922360/comparison-of-background-eeg-activity-of-different-groups-of-patients-with-idiopathic-epilepsy-using-shannon-spectral-entropy-and-cluster-based-permutation-statistical-testing
#3
Jose Antonio Urigüen, Begoña García-Zapirain, Julio Artieda, Jorge Iriarte, Miguel Valencia
Idiopathic epilepsy is characterized by generalized seizures with no apparent cause. One of its main problems is the lack of biomarkers to monitor the evolution of patients. The only tools they can use are limited to inspecting the amount of seizures during previous periods of time and assessing the existence of interictal discharges. As a result, there is a need for improving the tools to assist the diagnosis and follow up of these patients. The goal of the present study is to compare and find a way to differentiate between two groups of patients suffering from idiopathic epilepsy, one group that could be followed-up by means of specific electroencephalographic (EEG) signatures (intercritical activity present), and another one that could not due to the absence of these markers...
2017: PloS One
https://www.readbyqxmd.com/read/28914375/central-nervous-system-involvement-in-patients-with-granulomatosis-with-polyangiitis-a-single-center-retrospective-study
#4
George E Fragoulis, Sophia Lionaki, Aliki Venetsanopoulou, Panayiotis G Vlachoyiannopoulos, Haralampos M Moutsopoulos, Athanasios G Tzioufas
The aims of this study were to estimate the frequency of central nervous system (CNS) involvement in Greek patients with granulomatosis with polyangiitis (GPA) and describe the related clinical characteristics and long-term outcomes of these patients. Medical charts of all ANCA-associated vasculitis patients were retrospectively reviewed, and GPA patients with CNS involvement were identified. Demographics, serological, and clinical features throughout the disease course were recorded. Comparisons of disease characteristics and long-term outcomes were performed between GPA patients with and without CNS involvement...
September 15, 2017: Clinical Rheumatology
https://www.readbyqxmd.com/read/28904568/pediatric-autoimmune-encephalitis
#5
REVIEW
Massimo Barbagallo, Giovanna Vitaliti, Piero Pavone, Catia Romano, Riccardo Lubrano, Raffaele Falsaperla
Autoimmune (antibody mediated) encephalitis (AE) is emerging as a more common cause of pediatric encephalopathy than previously thought. The autoimmune process may be triggered by an infection, vaccine, or occult neoplasm. In the latter case, onconeural autoantibodies are directed against intracellular neuronal antigens, but a recent heterogeneous group of encephalitic syndromes has been found not to have underlying tumor but is associated with autoantibodies to the neuronal surface or synaptic antigens. Neuropsychiatric symptoms are very common in autoimmune encephalopathy; as a result, affected children may be initially present to psychiatrists...
April 2017: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/28883876/metabolic-screening-in-children-with-neurodevelopmental-delay-seizure-and-or-regression
#6
Parvaneh Karimzadeh, Mohammad Mahdi Taghdiri, Ezatollah Abasi, Masoud Hassanvand Amouzadeh, Zhila Naghavi, Ahad Ghazavi, Mohammad Mahdi Nasehi, Abbas Alipour
OBJECTIVE: Neurometabolic disorder is one of the important groups of diseases that prominently has presentation early infantile period. In this study, we evaluated the result of metabolic screening of the patient with seizure, developmental delay and/or regression in development, demographic disease clinical and radiological findings on admitted and outpatient visited children. MATERIALS & METHODS: Two-year retrospective review of 187 children with seizure, developmental delay and/or regression in the Mofid Children Hospital, Tehran, Iran was performed...
2017: Iranian Journal of Child Neurology
https://www.readbyqxmd.com/read/28843460/safety-threats-during-the-care-of-infants-with-hypoglycemic-seizures-in-the-emergency-department-a-multicenter-simulation-based-prospective-cohort-study
#7
Barbara M Walsh, Sandeep Gangadharan, Travis Whitfill, Marcie Gawel, David Kessler, Robert A Dudas, Jessica Katznelson, Megan Lavoie, Khoon-Yen Tay, Melinda Hamilton, Linda L Brown, Vinay Nadkarni, Marc Auerbach
BACKGROUND: Errors in the timely diagnosis and treatment of infants with hypoglycemic seizures can lead to significant patient harm. It is challenging to precisely measure medical errors that occur during high-stakes/low-frequency events. Simulation can be used to assess risk and identify errors. OBJECTIVE: We hypothesized that general emergency departments (GEDs) would have higher rates of deviations from best practices (errors) compared to pediatric emergency departments (PEDs) when managing an infant with hypoglycemic seizures...
August 23, 2017: Journal of Emergency Medicine
https://www.readbyqxmd.com/read/28814540/autism-spectrum-disorder-in-fragile-x-syndrome-cooccurring-conditions-and-current-treatment
#8
MULTICENTER STUDY
Walter E Kaufmann, Sharon A Kidd, Howard F Andrews, Dejan B Budimirovic, Amy Esler, Barbara Haas-Givler, Tracy Stackhouse, Catharine Riley, Georgina Peacock, Stephanie L Sherman, W Ted Brown, Elizabeth Berry-Kravis
BACKGROUND AND OBJECTIVE: Individuals with fragile X syndrome (FXS) are frequently codiagnosed with autism spectrum disorder (ASD). Most of our current knowledge about ASD in FXS comes from family surveys and small studies. The objective of this study was to examine the impact of the ASD diagnosis in a large clinic-based FXS population to better inform the care of people with FXS. METHODS: The study employed a data set populated by data from individuals with FXS seen at specialty clinics across the country...
June 2017: Pediatrics
https://www.readbyqxmd.com/read/28804898/epilepsy-surgery-of-low-grade-epilepsy-associated-neuroepithelial-tumors-a-retrospective-nationwide-italian-study
#9
Marco Giulioni, Gianluca Marucci, Veronica Pelliccia, Francesca Gozzo, Carmen Barba, Giuseppe Didato, Flavio Villani, Giancarlo Di Gennaro, Pier Paolo Quarato, Vincenzo Esposito, Alessandro Consales, Matteo Martinoni, Gianfranco Vornetti, Corrado Zenesini, Carlo Efisio Marras, Nicola Specchio, Luca De Palma, Raffaele Rocchi, Flavio Giordano, Giovanni Tringali, Paolo Nozza, Gabriella Colicchio, Guido Rubboli, Giorgio Lo Russo, Renzo Guerrini, Paolo Tinuper, Francesco Cardinale, Massimo Cossu
OBJECTIVE: To analyze the attitude and results of Italian epilepsy surgery centers in the surgical management of "low grade epilepsy associated neuroepithelial tumors" (LEATs). METHODS: We conducted a retrospective study enrolling 339 consecutive patients with LEATs who underwent surgery between January 2009 and June 2015 at eight Italian epilepsy surgery centers. We compared demographic, clinical, pathologic, and surgical features of patients with favorable (Engel class I) and unfavorable (Engel class II, III, and IV) seizure outcome...
August 14, 2017: Epilepsia
https://www.readbyqxmd.com/read/28783808/recrudescence-of-deficits-after-stroke-clinical-and-imaging-phenotype-triggers-and-risk-factors
#10
Mehmet A Topcuoglu, Esen Saka, Scott B Silverman, Lee H Schwamm, Aneesh B Singhal
Importance: Reemergence of previous stroke-related deficits (or poststroke recrudescence [PSR]) is an underrecognized and inadequately characterized phenomenon. Objective: To investigate the clinical features, triggers, and risk factors for PSR. Design, Setting, and Participants: This retrospective study incorporated a crossover cohort study to identify triggers and a case-control study to identify risk factors. The study used the Massachusetts General Hospital Research Patient Data Repository to identify patients for the period January 1, 2000, to November 30, 2015, who had a primary or secondary diagnosis of cerebrovascular disease, who underwent magnetic resonance imaging of the brain at least once, and whose inpatient or outpatient clinician note or discharge summary stated the term recrudescence...
September 1, 2017: JAMA Neurology
https://www.readbyqxmd.com/read/28768851/underestimation-of-sudden-deaths-among-patients-with-seizures-and-epilepsy
#11
Orrin Devinsky, Daniel Friedman, Jocelyn Y Cheng, Ellen Moffatt, Anthony Kim, Zian H Tseng
OBJECTIVE: To determine the definite and potential frequency of seizures and epilepsy as a cause of death (COD) and how often this goes unrecognized. METHODS: Prospective determination of seizures or epilepsy and final COD for individuals aged 18-90 years with out-of-hospital sudden cardiac deaths (SCDs) from the population-based San Francisco POST SCD Study. We compared prospective seizure or epilepsy diagnosis and final COD as adjudicated by a multidisciplinary committee (pathologists, electrophysiologists, and a vascular neurologist) vs retrospective adjudication by 2 epileptologists with expertise in seizure-related mortality...
August 29, 2017: Neurology
https://www.readbyqxmd.com/read/28762041/neuroinfluenza-evaluation-of-seasonal-influenza-associated-severe-neurological-complications-in-children-a-multicenter-study
#12
Muhammet Sukru Paksu, Kerim Aslan, Tanil Kendirli, Basak Nur Akyildiz, Nazik Yener, Riza Dincer Yildizdas, Mehmet Davutoglu, Ayhan Yaman, Sedat Isikay, Gulnar Sensoy, Haydar Ali Tasdemir
PURPOSE: Although influenza primarily affects the respiratory system, in some cases, it can cause severe neurological complications. Younger children are especially at risk. Pediatric literature is limited on the diagnosis, treatment, and prognosis of influenza-related neurological complications. The aim of the study was to evaluate children who suffered severe neurological manifestation as a result of seasonal influenza infection. METHODS: The medical records of 14 patients from six hospitals in different regions of the country were evaluated...
July 31, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28745672/-gender-aspects-of-medico-social-adaptation-in-adults-with-early-onset-of-epilepsy
#13
O V Grebenyuk, T V Kazennykh, V M Alifirova, M V Svetlik, N A Bokhan
AIM: To study the relationship between indicators of clinical picture and social adaptation in idiopathic and symptomatic epilepsies with onset before adulthood depending on patient's gender. MATERIAL AND METHODS: The cross-sectional study was carried out. The study group included 212 women and 171 men, aged 24-60 years, with confirmed diagnosis of epilepsy with onset before 18 years. Seventy-three patients were diagnosed with symptomatic epilepsy, 310 with idiopathic epilepsy...
2017: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
https://www.readbyqxmd.com/read/28712537/efficacy-and-safety-of-voretigene-neparvovec-aav2-hrpe65v2-in-patients-with-rpe65-mediated-inherited-retinal-dystrophy-a-randomised-controlled-open-label-phase-3-trial
#14
Stephen Russell, Jean Bennett, Jennifer A Wellman, Daniel C Chung, Zi-Fan Yu, Amy Tillman, Janet Wittes, Julie Pappas, Okan Elci, Sarah McCague, Dominique Cross, Kathleen A Marshall, Jean Walshire, Taylor L Kehoe, Hannah Reichert, Maria Davis, Leslie Raffini, Lindsey A George, F Parker Hudson, Laura Dingfield, Xiaosong Zhu, Julia A Haller, Elliott H Sohn, Vinit B Mahajan, Wanda Pfeifer, Michelle Weckmann, Chris Johnson, Dina Gewaily, Arlene Drack, Edwin Stone, Katie Wachtel, Francesca Simonelli, Bart P Leroy, J Fraser Wright, Katherine A High, Albert M Maguire
BACKGROUND: Phase 1 studies have shown potential benefit of gene replacement in RPE65-mediated inherited retinal dystrophy. This phase 3 study assessed the efficacy and safety of voretigene neparvovec in participants whose inherited retinal dystrophy would otherwise progress to complete blindness. METHODS: In this open-label, randomised, controlled phase 3 trial done at two sites in the USA, individuals aged 3 years or older with, in each eye, best corrected visual acuity of 20/60 or worse, or visual field less than 20 degrees in any meridian, or both, with confirmed genetic diagnosis of biallelic RPE65 mutations, sufficient viable retina, and ability to perform standardised multi-luminance mobility testing (MLMT) within the luminance range evaluated, were eligible...
July 13, 2017: Lancet
https://www.readbyqxmd.com/read/28704875/sonographic-and-doppler-sonographic-diagnosis-of%C3%A2-neonatal-ischemic-stroke
#15
Karl-Heinz Deeg
Children are particularly at risk for stroke in the neonatal period. 1/3 of all strokes in children occur during the perinatal period. The incidence of perinatal stroke is 1:4000. A differentiation is made between ischemic stroke and hemorrhagic stroke. Ischemic strokes are caused by arterial occlusion due to thrombosis or embolism. As a result of the nonspecific clinical symptoms in this age group, diagnosis is usually made too late. The only relatively specific symptom is focal cerebral seizure during the first week of life...
August 2017: Ultraschall in der Medizin
https://www.readbyqxmd.com/read/28653176/amino-acid-synthesis-deficiencies
#16
REVIEW
T J de Koning
In recent years the number of disorders known to affect amino acid synthesis has grown rapidly. Nor is it just the number of disorders that has increased: the associated clinical phenotypes have also expanded spectacularly, primarily due to the advances of next generation sequencing diagnostics. In contrast to the "classical" inborn errors of metabolism in catabolic pathways, in which elevated levels of metabolites are easily detected in body fluids, synthesis defects present with low values of metabolites or, confusingly, even completely normal levels of amino acids...
July 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28628467/juvenile-and-adult-onset-systemic-lupus-erythematosus-a-comparative-study-in-a-large-cohort-from-the-spanish-society-of-rheumatology-lupus-registry-relesser
#17
Vicenç Torrente-Segarra, Tarek Carlos Salman Monte, Iñigo Rúa-Figueroa, Fernando Sánchez-Alonso, Francisco Javier López-Longo, María Galindo-Izquierdo, Jaime Calvo-Alén, Alejandro Olivé-Marqués, Jesús Ibañez-Ruán, Loreto Horcada, Ana Sánchez-Atrio, Carlos Montilla, Rafael Benito Melero González, Elvira Díez-Álvarez, Victor Martinez-Taboada, José Luis Andreu, Olaia Fernández-Berrizbeitia, José Ángel Hernández-Beriain, Marian Gantes, Blanca Hernández-Cruz, Ángela Pecondón-Español, Carlos Marras, Gema Bonilla, José M Pego-Reigosa
OBJECTIVES: We aimed to describe juvenile-onset systemic lupus erythematosus (jSLE) features and to establish its differences compared to adult-onset SLE (aSLE) from a large national database. METHODS: Data from patients (≥4 ACR criteria) included in Spanish Society of Rheumatology Lupus Registry (RELESSER) were analysed. Sociodemographic, clinical, serological, activity, treatment, cumulative damage, comorbidities and severity data were collected. Patients with disease onset <18 years were described and compared to those with disease onset ≥18 years...
June 12, 2017: Clinical and Experimental Rheumatology
https://www.readbyqxmd.com/read/28624716/seizure-related-hospital-admissions-readmissions-and-costs-comparisons-with-asthma-and-diabetes-in-south-australia
#18
Michelle L Bellon, Christopher Barton, Nikki McCaffrey, Denise Parker, Claire Hutchinson
PURPOSE: Seizures are listed as an Ambulatory Care Sensitive Condition (ACSC), where, in some cases, hospitalisation may be avoided with appropriate preventative and early management in primary care. We examined the frequencies, trends and financial costs of first and subsequent seizure-related hospital admissions in the adult and paediatric populations, with comparisons to bronchitis/asthma and diabetes admissions in South Australia between 2012 and 2014. METHODS: De-identified hospital separation data from five major public hospitals in metropolitan South Australia were analysed to determine the number of children and adults admitted for the following Australian Refined Diagnosis Related Groups: seizure related conditions; bronchitis/asthma; and diabetes...
June 10, 2017: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/28623751/epilepsy-and-stigmatization-in-turkey
#19
Ozge Doganavsargil-Baysal, Buket Cinemre, Yesim Senol, Ebru Barcin, Zehra Gokmen
Patients with epilepsy experience stigmatization quite often. Studies investigating stigmatization perceived by patients with epilepsy in Turkey are limited in number. In this study, we aimed to understand the relationship between stigmatization and psychopathology and also to identify the effects of stigmatization on the quality of life in epilepsy. Patients completed a socio-demographical data form and epilepsy information form. They were evaluated in terms of psychiatric diagnosis using SCID I and they were asked to complete SCL-90 R, Epilepsy Stigmatization Scale and SF 36...
June 14, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28619360/further-delineation-of-cog8-cdg-a-case-with-novel-compound-heterozygous-mutations-diagnosed-by-targeted-exome-sequencing
#20
Aram Yang, Sung Yoon Cho, Ja-Hyun Jang, Jinsup Kim, Sook Za Kim, Beom Hee Lee, Han-Wook Yoo, Dong-Kyu Jin
Congenital disorders of glycosylation (CDG) are a rapidly expanding group of inherited metabolic disorders with highly variable clinical presentations caused by deficient glycosylation of proteins and/or lipids. CDG-IIh is a very rare subgroup of CDG caused by mutations in the conserved oligomeric Golgi (COG) complex gene, COG8, and so far, only two cases have been reported in the medical literature. Here, we describe an 8-year-old Korean boy with psychomotor retardation, hypotonia, failure to thrive, elevated serum liver enzymes, microcephaly, and talipes equinovarus...
June 13, 2017: Clinica Chimica Acta; International Journal of Clinical Chemistry
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