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https://www.readbyqxmd.com/read/29668588/a-delayed-diagnosis-of-catecholaminergic-polymorphic-ventricular-tachycardia-with-a-mutant-of-ryr2-at-c-7580t-g-for-6-years-in-a-9-year-old-child
#1
Hongyu Duan, Yongyi Lu, Song Yan, Lina Qiao, Yimin Hua, Yifei Li, Kaiyu Zhou, Chuan Wang
RATIONALE: Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a rare but potentially lethal inherited arrhythmia syndrome induced by adrenergic stress. Due to the atypical clinical manifestations in early age, limited recognition and experience of pediatric cardiologists, and low awareness of the significance of genetic diagnosis in some underdeveloped areas in China, a delayed or missed diagnosis of CPVT in children is common and concerning. PATIENT CONCERNS: A 9-year and 3-month male child with recurrent exercise-induced syncope accompanied by convulsion was initially misdiagnosed as epilepsy since the first manifestation at the age of 3 years...
April 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29573040/f463l-increases-the-potential-of-dofetilide-on-human-ether-a-go-go-related-gene-herg-channels
#2
Gong Cheng, Jine Wu, Wenqi Han, Chaofeng Sun
Mutations in genes related to long QT syndrome (LQTS) is recognized as an independent risk of drug-induced LQTS. We previously screened a mutation F463L in a Chinese patient with LQT2, syncope, and epilepsy. Here, we planned to illustrate how F463L influences the action of dofetilide on hERG channels. F463L-hERG plasmids were transfected into the stable Human Embryonic Kidney 293 (HEK293) cells expressing WT-hERG to generate heterozygous mutant (WT + F463L-hERG). Whole-cell patch clamp and laser confocal scanning microscopy were used to evaluate electrophysiological consequences and the membrane distribution of hERG protein...
March 23, 2018: Microscopy Research and Technique
https://www.readbyqxmd.com/read/29557322/is-concussion-a-risk-factor-for-epilepsy
#3
Richard Wennberg, Carmen Hiploylee, Peter Tai, Charles H Tator
BACKGROUND: Epidemiologic studies have suggested that concussion, or mild traumatic brain injury (mTBI), is associated with a twofold or greater increase in relative risk for the development of post-traumatic epilepsy. To assess the clinical validity of these findings, we analyzed the incidence of epilepsy in a large cohort of post-concussion patients in whom concussion was strictly defined according to international guidelines. METHODS: A retrospective cohort study of 330 consecutive post-concussion patients followed by a single concussion specialist...
March 20, 2018: Canadian Journal of Neurological Sciences. le Journal Canadien des Sciences Neurologiques
https://www.readbyqxmd.com/read/29494855/effect-of-fluoxetine-on-three-year-recurrence-in-acute-ischemic-stroke-a-randomized-controlled-clinical-study
#4
Yitao He, Zhili Cai, Siling Zeng, Siyan Chen, Bingshan Tang, Yubing Liang, Xin Chang, Yi Guo
OBJECTIVE: To evaluate the effect of fluoxetine on three-year recurrence rate of acute ischemic stroke. PATIENTS AND METHODS: 404 enrolled patients with acute ischemic stroke were randomly divided into control and treatment groups, and underwent conventional secondary preventive therapy for ischemic stroke. In addition, the treatment group was administered fluoxetine (20 mg daily for 90 days). A three-year follow-up was performed, and indicators related to risk factors of stroke were assessed at day 90 of follow-up...
May 2018: Clinical Neurology and Neurosurgery
https://www.readbyqxmd.com/read/29454607/italian-wikipedia-and-epilepsy-an-infodemiological-study-of-online-information-seeking-behavior
#5
Francesco Brigo, Simona Lattanzi, Giorgia Giussani, Laura Tassi, Nicola Pietrafusa, Carlo Andrea Galimberti, Raffaele Nardone, Nicola Luigi Bragazzi, Oriano Mecarelli
Wikipedia is the most commonly accessed source of health information by both healthcare professionals and the lay public worldwide. We aimed to evaluate information-seeking behavior of Internet users searching the Italian Wikipedia for articles related to epilepsy and its treatment. Using Pageviews Analysis, we assessed the total and mean monthly views of articles from the Italian Wikipedia devoted to epilepsy, epileptic syndromes, seizure type, and antiepileptic drugs (AEDs) from January 1, 2015 to October 31, 2017...
February 14, 2018: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/29359374/value-of-clinical-features-to-differentiate-refractory-epilepsy-from-mimics-a-prospective-longitudinal-cohort-study
#6
A Labate, L Mumoli, A Curcio, G Tripepi, G D'Arrigo, E Ferlazzo, U Aguglia, C Indolfi, A Quattrone, A Gambardella
BACKGROUND AND PURPOSE: Misdiagnosis of refractory epilepsy (rE) is common and such patients experience a long diagnostic delay. Our aim was to identify key clinical/laboratory factors in order to obtain an alternative diagnosis in patients referred for rE. METHODS: Between January 2010 and December 2015, 125 consecutive patients with a diagnosis of rE were prospectively enrolled. All patients underwent a comprehensive neurological, neuropsychiatric and cardiological evaluation, and had an observation time of at least 1 year after the study entry...
May 2018: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/29262473/-clinical-challenges-in-the-management-of-catecholaminergic-polymorphic-ventricular-tachycardia-in-children
#7
H Y Ge, X M Li, H Jiang, Y Zhang, H J Liu, X C Zheng, M T Li
Objective: Catecholaminergic polymorphic ventricular tachycardia (CPVT) accounts for up to 10%-15% sudden cardiac death (SCD) in the children and young population. This study aimed to assess the current situation and challenges in CPVT clinical diagnosis. Method: A retrospective review included 11 children (7 male patients) at the First Hospital of Tsinghua University clinically diagnosed with CPVT from June 2014 to July 2017. Each patient was evaluated with detailed history, physical examination, resting 12-lead electrocardiogram(ECG), 24-h Holter, exercise stress test, Doppler echocardiography and genetic test...
December 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/29123835/ambulance-dispatches-to-schools-during-a-5-year-period-in-fukui-prefecture
#8
Yoshikazu Takinami, Shinji Maeda
Aim: To determine the characteristics and trends of medical emergencies during school activities by analyzing information provided by fire departments. Methods: During a 5-year period from January 2009 to December 2013, all nine fire departments in Fukui Prefecture handled 850 emergencies at schools. We investigated the 850 cases with the age range of 0-63 years. Results: It was found that 21.5% of ambulance dispatches to schools were on weekends and there were more dispatches for non-faculty members of all age groups on weekends than on weekdays...
January 2017: Acute Medicine & Surgery
https://www.readbyqxmd.com/read/29055272/engaging-psychiatrists-in-the-diagnosis-of-psychogenic-nonepileptic-seizures-what-can-they-contribute
#9
Massimiliano Beghi, Giuseppe Erba, Cesare Maria Cornaggia, Giorgia Giussani, Elisa Bianchi, Gianni Porro, Michela Russo, Ettore Beghi
PURPOSE: To investigate if psychiatrists could predict the diagnosis of psychogenic nonepileptic seizures (PNES) by reviewing videos of seizures of various types and to compare the accuracy and the criteria leading to the diagnosis used by psychiatrists with those used by epileptologists. METHODS: Four board-certified psychiatrists were asked to review 23 videos capturing representative events of 21 unselected consecutive patients admitted to an epilepsy center for long-term video-EEG monitoring...
October 16, 2017: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/29028678/increase-in-medical-emergency-calls-and-calls-for-central-nervous-system-symptoms-during-a-severe-air-pollution-event-january-2013-jinan-city-china
#10
Liangliang Cui, George A Conway, Lan Jin, Jingwen Zhou, Jun Zhang, Xinwei Li, Lei Zhou, Tiantian Li, Ji Zhang
BACKGROUND: In January 2013, a continuous and severe haze event affected one third of the major cities in China, including Jinan. OBJECTIVES: We investigated whether medical emergency calls (for nonaccidental emergencies) and calls for Central Nervous System (CNS) syndromes increased during this episode compared with the previous winter months (January, February, and December) in 2011 and 2012. METHODS: Daily emergency calls were obtained from Jinan Medical Emergency Center...
October 2017: Epidemiology
https://www.readbyqxmd.com/read/28869205/ictal-asystole-in-a-patient-with-posterior-reversible-encephalopathy-syndrome-pres-and-seizures
#11
Joanna Suski, Reginald Ho, Maromi Nei
We describe a case of ictal asystole in a patient with posterior reversible encephalopathy syndrome (PRES), which has never been described previously. Ictal asystole is rare and has possible serious medical consequences, including syncope, and may be a potential mechanism for sudden unexpected death in epilepsy (SUDEP). Awareness that PRES may be observed with recurrent ictal asystole may aid in the recognition and treatment of seizures in this condition and the prevention of asystole-associated complications...
September 1, 2017: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/28842725/-diagnosis-of-non-epileptic-paroxysmal-disorders-and-epileptic-seizures
#12
REVIEW
S Noachtar, B Güldiken
Non-epileptic paroxysmal disorders may clinically manifest in a similar way to epileptic seizures and have to be considered in the differential diagnosis of epilepsy. Syncope, non-epileptic psychogenic seizures, paroxysmal movement disorders, migraine, transient ischemic attacks and parasomnia constitute the major differential diagnoses. A meticulous history and a third party description are useful for the differential diagnosis. Neurological, psychiatric and cardiological examinations are required for the correct differential diagnosis...
October 2017: Der Nervenarzt
https://www.readbyqxmd.com/read/28831928/-driving-status-of-syncope-patients-is-not-part-of-standard-advice
#13
M R Snijders Blok, F J de Lange, R D Thijs, J G van Dijk, W Wieling, N van Dijk
OBJECTIVE: Some medical problems, such as syncope, have direct consequences for fitness to drive. Our objective was to discover if patients had been informed about their driving status after a syncopal episode by their physician, and if this advice was in line with current legislation. DESIGN: Cross-sectional study. METHOD: By means of a structured questionnaire, 150 patients referred to the syncope clinic at the Academic Medical Centre, Amsterdam, were asked about the advice they had received concerning their driving status during previous consultations with their general practitioner or specialists...
2017: Nederlands Tijdschrift Voor Geneeskunde
https://www.readbyqxmd.com/read/28815953/epilepsy-in-fragile-x-syndrome-mimicking-panayiotopoulos-syndrome-description-of-three-patients
#14
Paolo Bonanni, Susanna Casellato, Franco Fabbro, Susanna Negrin
Fragile-X-syndrome is the most common cause of inherited intellectual disability. Epilepsy is reported to occur in 10-20% of individuals with Fragile-X-syndrome. A frequent seizure/electroencephalogram (EEG) pattern resembles that of benign rolandic epilepsy. We describe the clinical features, EEG findings and evolution in three patients affected by Fragile-X-syndrome and epilepsy mimicking Panayiotopoulos syndrome. Age at seizure onset was between 4 and about 7 years. Seizures pattern comprised a constellation of autonomic symptoms with unilateral deviation of the eyes and ictal syncope...
August 16, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28779863/neurological-complications-of-cardiac-disease
#15
Nandini Madan, Karen S Carvalho
This article focuses on the complex interactions between the cardiovascular and neurologic systems. Initially, we focus on neurological complications in children with congenital heart disease both secondary to the underlying cardiac disease and complications of interventions. We later discuss diagnosis and management of common syncope syndromes with emphasis on vasovagal syncope. We also review the diagnosis, classification, and management of children and adolescents with postural orthostatic tachycardia syndrome...
February 2017: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/28747444/recurrence-risk-of-ictal-asystole-in-epilepsy
#16
REVIEW
Kevin G Hampel, Roland D Thijs, Christian E Elger, Rainer Surges
OBJECTIVE: To determine the recurrence risk of ictal asystole (IA) and its determining factors in people with epilepsy. METHODS: We performed a systematic review of published cases with IA in 3 databases and additionally searched our local database for patients with multiple seizures simultaneously recorded with ECG and EEG and at least one IA. IA recurrence risk was estimated by including all seizures without knowledge of the chronological order. Various clinical features were assessed by an individual patient data meta-analysis...
August 22, 2017: Neurology
https://www.readbyqxmd.com/read/28702333/cough-syncope-induced-by-post-nasal-drip-successfully-managed-by-gabapentin
#17
Hussein Algahtani, Bader Shirah
Syncope is a common complaint in both neurology clinic and emergency department. It is defined as transient loss of consciousness with loss of postural tone, which is usually self-limited and followed by a spontaneous recovery. Our report describes a case of cough syncope resulting from chronic intractable cough caused by post nasal drip. Although his experience was debilitating, we were able to control his symptoms significantly using a small dose of Gabapentin. This dose is much lower when compared with the already established licensed indicated higher doses used for the treatment of neuropathic pain and epilepsy...
2017: Respiratory Medicine Case Reports
https://www.readbyqxmd.com/read/28667576/can-syncope-cause-convulsive-seizures-in-adults
#18
Dearbhla M Kelly, Daniel J Costello
PURPOSE: Convulsive epileptic seizures triggered by transient cerebral hypoperfusion 'reflex anoxic seizures' are well-described in children but are not commonly recognized in adults. METHODS: We report a case series of 12 adults who presented acutely after generalized tonic-clonic seizures with a clear syncopal phase before the convulsion. We describe the aetiology, semiology and natural history of these events. RESULTS: Four patients (33...
August 2017: Clinical Autonomic Research: Official Journal of the Clinical Autonomic Research Society
https://www.readbyqxmd.com/read/28520630/diagnostic-yield-of-routine-electroencephalography-with-concurrent-video-recording-in-detecting-interictal-epileptiform-discharges-in-relation-to-reasons-for-request-a-prospective-study-of-1-080-video-electroencephalograms
#19
Laia Grau-López, Marta Jiménez, Jordi Ciurans, Sonia Barambio, Alejandra Fumanal, Juan L Becerra
PURPOSE: The aim of this study was to prospectively analyze the sensitivity and specificity of routine electroencephalography with concurrent video recording (vEEG) in relation to the reasons for requesting the test and to investigate when routine vEEG should be requested. METHODS: We prospectively analyzed 1,080 consecutive vEEGs performed between April 2015 and April 2016. The requests for vEEG were classified as requests with a low suspicion of epilepsy (syncope, confusion or delirium, suspicion of psychogenic nonepileptic seizures, and paroxysmal focal neurological deficit) or requests with a high suspicion of epilepsy (first clinical seizure, suspected status epilepticus, follow-up study of a patient with epilepsy, and acute symptomatic seizures)...
May 16, 2017: Journal of Clinical Neurophysiology: Official Publication of the American Electroencephalographic Society
https://www.readbyqxmd.com/read/28403704/nursing-management-of-reflex-anoxic-seizures-in-children
#20
Neal Patel, Rowan Kerr-Liddell, Louise Challis, Siba Prosad Paul
Children who present with transient loss of consciousness (T-LOC) are often first seen in emergency departments (EDs). Reflex anoxic seizure (RAS), vasovagal syncope and prolonged respiratory apnoea are benign, syncopal events that can be generally managed by explanation and reassurance. RAS is a short, paroxysmal, self-reverting episode of asystole that is triggered by pain, fear or anxiety and is caused by increased vagal response. It is an important differential diagnosis in pre-school age children who present with T-LOC, but is often underdiagnosed and can sometimes be misdiagnosed as epilepsy...
April 13, 2017: Emergency Nurse: the Journal of the RCN Accident and Emergency Nursing Association
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