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https://www.readbyqxmd.com/read/27917693/identification-of-kcnq1-compound-heterozygous-mutations-in-three-chinese-families-with-jervell-and-lange-nielsen-syndrome
#1
Cuicui Wang, Yu Lu, Jing Cheng, Lei Zhang, Wei Liu, Weihua Peng, Di Zhang, Hong Duan, Dongyi Han, Huijun Yuan
CONCLUSION: Besides expanding the spectrum of KCNQ1 mutations causing Jervell and Lange-Nielsen Syndrome (JLNS), the results showed diversity of its phenotypes, and emphasized the importance of molecular genetic analysis in confirming clinical diagnosis and making diagnosis possible before the emergency symptoms for deaf individuals. OBJECTIVES: This study aimed to investigate four patients from three Chinese families with congenital hearing loss clinically and genetically...
December 5, 2016: Acta Oto-laryngologica
https://www.readbyqxmd.com/read/27869560/syncope-seizure-or-both
#2
Paraskevi Koutrolou-Sotiropoulou, Abhijeet Singh, Mason Leeman-Markowski, Eric J Rashba
Ictal asystole (IA) is a rare phenomenon in patients with seizures with an incidence of 0.27-0.4% and has been proposed as a possible mechanism of sudden unexpected death in epilepsy patients (SUDEP). We present a case of a 53-year-old woman who initially presented with episodes of expressive aphasia and was treated with antiepileptic drugs (AEDs). While on therapy she experienced episodes of syncope. During her hospitalization for tapering of AEDs and 24-hour EEG monitoring, the patient developed a seizure followed by sinus bradycardia and an 18-second sinus pause, resulting in loss of consciousness and slowing of cerebral activity...
November 21, 2016: Acute Cardiac Care
https://www.readbyqxmd.com/read/27868350/an-elderly-jervell-and-lange-nielsen-patient-heterozygous-compound-for-two-new-kcnq1-mutations
#3
Eliecer Coto, Francisco J García-Fernández, David Calvo, Ricardo Salgado-Aranda, Javier Martín-González, Belén Alonso, Sara Iglesias, Juan Gómez
We present the case of a 66-year-old female with early onset deafness and seizures, who was diagnosed with epilepsy at the age of 2 years. She received antiepileptic drugs and was free of syncope episodes for 32 years. After a syncope at the age of 34, the ECG was characteristic of long-QT syndrome and was treated with antiarrhythmic drugs. Sequencing of the KCNQ1 gene identified two novel KCNQ1 variants interpreted to be pathogenic, and the patient was finally diagnosed with Jervell and Lange-Nielsen syndrome...
November 21, 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27843098/the-heart-of-epilepsy-current-views-and-future-concepts
#4
S Shmuely, M van der Lende, R J Lamberts, J W Sander, R D Thijs
Cardiovascular (CV) comorbidities are common in people with epilepsy. Several mechanisms explain why these conditions tend to co-exist including causal associations, shared risk factors and those resulting from epilepsy or its treatment. Various arrhythmias occurring during and after seizures have been described. Ictal asystole is the most common cause. The converse phenomenon, arrhythmias causing seizures, appears extremely rare and has only been reported in children following cardioinihibitory syncope. Arrhythmias in epilepsy may not only result from seizure activity but also from a shared genetic susceptibility...
October 26, 2016: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/27747448/calgary-score-and-modified-calgary-score-in-the-differential-diagnosis-between-neurally-mediated-syncope-and-epilepsy-in-children
#5
Runmei Zou, Shuo Wang, Liping Zhu, Lijia Wu, Ping Lin, Fang Li, Zhenwu Xie, Xiaohong Li, Cheng Wang
To evaluate the value of Calgary score and modified Calgary score in differential diagnosis between neurally mediated syncope and epilepsy in children. 201 children experienced one or more episodes of loss of consciousness and diagnosed as neurally mediated syncope or epilepsy were enrolled. Calgary score, modified Calgary score and receiver-operating characteristic curve were used to explore the predictive value in differential diagnosis. There were significant differences in median Calgary score between syncope [-4...
October 17, 2016: Neurological Sciences
https://www.readbyqxmd.com/read/27719851/psychogenic-nonepileptic-seizures-eeg-and-investigation
#6
R Duncan
In the investigation of psychogenic nonepileptic seizures (PNES), the main differential diagnoses are between convulsive PNES and tonic-clonic seizures, between swoon PNES and syncope, and between pseudoabsence PNES and absence seizures. For the best diagnostic certainty, events must be captured, ideally using video-electroencephalogram (EEG), including an electrocardiographic channel. The "video" part of video-EEG allows EEG changes (or lack of them) to be interpreted in the appropriate clinical context. When the diagnosis is based on less good data (e...
2017: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/27680221/a-case-of-cerebrotendinous-xanthomatosis-mimicking-the-clinical-phenotype-of-mitochondrial-disease-with-a-novel-frame-shift-mutation-c-43_44-delgg-in-cyp27a1-gene-exon-1
#7
Junpei Koge, Shintaro Hayashi, Hiroo Yamaguchi, Takahisa Tateishi, Hiroyuki Murai, Jun-Ichi Kira
A 37-old-male with a history of early childhood mental retardation was admitted to our hospital. He experienced recurrent syncopes at 23 years old, and at age 35 gait disturbance and hearing impairment developed gradually and worsened over time. His grandparents were in a consanguineous marriage. He was of short stature and absent of tendon xanthomas. Neurological examinations revealed scanning speech, dysphagia, right sensorineural hearing loss, spasticity in both upper and lower extremities, and spastic gait...
September 28, 2016: Rinshō Shinkeigaku, Clinical Neurology
https://www.readbyqxmd.com/read/27621522/efficacy-of-nasya-nasal-medication-in-coma-a-case-study
#8
Rajkala S Ramteke, Panchakshari D Patil, Anup B Thakar
For emergency conditions, Ayurveda has never been given importance in recent times. However, there are certain emergency conditions where biomedicine has limitations but, Ayurveda can provide solution. Classics have many references regarding management of acute conditions like syncope, coma, episodic conditions of bronchial asthma, epilepsy, etc., In the present study, a 61 year female patient had a two year history of hypertension and was suffering with coma. She was treated with an Ayurvedic treatment modality...
April 2016: Ancient Science of Life
https://www.readbyqxmd.com/read/27592470/frequency-of-a-false-positive-diagnosis-of-epilepsy-a-systematic-review-of-observational-studies
#9
REVIEW
Ying Xu, Dennis Nguyen, Armin Mohamed, Cheryl Carcel, Qiang Li, Mansur A Kutlubaev, Craig S Anderson, Maree L Hackett
PURPOSE: To determine the frequency of false positive diagnoses of epilepsy and to explore its imitators and consequences. METHOD: A systematic review of all published observational studies (to November 2015) was conducted to determine the proportion of false positive diagnoses of epilepsy. We included studies of people of all ages receiving a diagnosis of epilepsy. All observational study designs were included with the exception of case-reports and case series with fewer than 3 participants...
October 2016: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/27549906/seizure-related-modulation-of-systemic-arterial-blood-pressure-in-focal-epilepsy
#10
Kevin G Hampel, Amirhossein Jahanbekam, Christian E Elger, Rainer Surges
OBJECTIVE: Cardiorespiratory function alterations are commonly observed with epileptic seizures and may lead to syncope and sudden unexpected death in epilepsy (SUDEP). Although most previous research has focused on controlling heart rate (HR) and respiration, little is known about seizure-related regulation of systemic blood pressure (BP). Herein, we have investigated whether the periictal modulation of systemic BP and HR depends on seizure characteristics. METHODS: Systemic arterial BP, HR, and peripheral capillary oxygen saturation (SPO2 ) were continuously and noninvasively monitored using the ccNexfin device in those epilepsy patients undergoing video-electroencephalography (EEG) telemetry...
October 2016: Epilepsia
https://www.readbyqxmd.com/read/27516914/carotid-space-mass-proximal-to-vagus-nerve-causing-asystole-and-syncope
#11
Julie Leviter, Daniel H Wiznia
Manipulation of vagal nerve rootlets, whether surgical or through mass effect of a neoplasm, can result in asystole and hypotension, accompanied by ST depression and right bundle branch block. There are few case reports of a neoplasm causing these effects, and this case describes a patient with such a mass presenting with syncopal episodes. A 43-year-old man with a past medical history of HIV, bipolar disorder, and epilepsy was admitted to the neurology service for a video electroencephalogram (vEEG) to characterize syncopal episodes that were felt to be epileptic in origin...
2016: Case Reports in Neurological Medicine
https://www.readbyqxmd.com/read/27510871/-clinical-and-genetic-characteristics-and-detection-of-urinary-pipecolic-acid-in-pyridoxine-dependent-epilepsy
#12
J Xue, Z X Yang, H Li, P Qian, Y Wu, Y W Jiang, X Y Liu
OBJECTIVE: To analyze the clinical and genetic characteristics of patients with pyridoxine dependent epilepsy (PDE), and build a method to detect and analyze the concentration of urinary pipecolic acid in PDE patients receiving pyridoxine treatment. METHOD: Twelve patients (8 were male, 4 were female) were diagnosed as PDE in Peking University First Hospital between April 2012 and September 2015. The clinical manifestations, diagnosis and treatment process, video-electroencephalogram, magnetic resonance imaging were retrospectively analyzed...
August 2016: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/27506513/challenges-in-the-first-seizure-clinic-for-adult-patients-with-epilepsy
#13
Anvesh Jackson, Louise Teo, Udaya Seneviratne
AIMS: (1) To delineate the challenges in seizure diagnosis in the first seizure clinic setting for adult patients of a teaching hospital, and (2) quantify the diagnostic accuracy of the referral source and the yield of routine investigations, including blood tests, EEGs, and neuroimaging. METHODS: We retrospectively reviewed medical records of patients referred by the emergency department to the adult first seizure clinic and seen by the same epilepsy specialist between June 2007 and June 2011...
September 1, 2016: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/27490326/unilateral-mu-rhythm-and-associated-cortical-lesions-on-brain-mri
#14
Wissam R Yamak, Ahmad Beydoun, Maya Dirani, Hassan Toufaili, Taghrid El Hajj, Wassim Nasreddine
PURPOSE: The purpose of this study was to assess the frequency of occurrence of a unilateral Mu rhythm and the associated neuroimaging findings on dedicated epilepsy protocol brain MRI. METHODS: We retrospectively reviewed the EEG reports database at the American University of Beirut Medical Center between 2011 and 2014 searching for the presence of a unilateral Mu rhythm. For patients with a unilateral Mu rhythm, we recorded the patients' demographics, number of EEGs performed, characteristics of the Mu activity and the findings on the epilepsy protocol brain MRIs...
July 25, 2016: Journal of Clinical Neurophysiology: Official Publication of the American Electroencephalographic Society
https://www.readbyqxmd.com/read/27455832/vagoglossopharyngeal-neuralgia-occurred-concomitantly-with-ipsilateral-hemifacial-spasm-and-versive-seizure-like-movement-a-first-case-report
#15
Peeraphong Thiarawat, Apirath Wangtheraprasert, Jiraporn Jitprapaikulsan
Vagoglossopharyngeal neuralgia (VGPN) is a very rare condition. VGPN with convulsive like attack is even rarer All of the cases had their head turned to the opposite side of facial pain. Hemifacial spasm occurring concurrently with VGPN has never been reported. Herein, we present the first case of VGPN that had ipsilateral hemifacial spasm and versive seizure-like movement to the same side of facial pain. We reported a 71-year-old man presenting with multiple episodes of intermittent sharp shooting pain arising on the right middle neck, followed by hemifacial spasm on right face...
January 2016: Journal of the Medical Association of Thailand, Chotmaihet Thangphaet
https://www.readbyqxmd.com/read/27385741/value-of-patient-reported-symptoms-in-the-diagnosis-of-transient-loss-of-consciousness
#16
Markus Reuber, Min Chen, Jenny Jamnadas-Khoda, Mark Broadhurst, Melanie Wall, Richard A Grünewald, Stephen J Howell, Matthias Koepp, Steve Parry, Sanjay Sisodiya, Matthew Walker, Dale Hesdorffer
OBJECTIVE: Epileptic seizures, syncope, and psychogenic nonepileptic seizures (PNES) account for over 90% of presentations with transient loss of consciousness (TLOC). The patient's history is crucial for the diagnosis, but the diagnostic value of individual semiologic features is limited. This study explores the diagnostic potential of a comprehensive questionnaire focusing on TLOC-associated symptoms. METHODS: A total of 386 patients with proven epilepsy, 308 patients with proven PNES, and 371 patients with proven syncope were approached by post to recruit 100 patients in each diagnostic group...
August 9, 2016: Neurology
https://www.readbyqxmd.com/read/27356810/similarity-of-symptoms-between-transient-epileptic-amnesia-and-lewy-body-disease
#17
Katsuyuki Ukai, Hiroshige Fujishiro, Masako Watanabe, Kenji Kosaka, Norio Ozaki
Epilepsy with the main symptom of amnesia is known as transient epileptic amnesia (TEA). Dementia with Lewy bodies (DLB) is the second most common form of neurodegenerative dementia. The concept that Lewy body disease includes Parkinson's disease with dementia and dementia with Lewy bodies was proposed in the 2005 revision of the Clinical Diagnostic Criteria. Here, we describe a woman with cognitive impairment, olfactory dysfunction, and reduced (123) I-meta-iodobenzylguanidine uptake on myocardial scintigraphy...
June 30, 2016: Psychogeriatrics: the Official Journal of the Japanese Psychogeriatric Society
https://www.readbyqxmd.com/read/27349049/-the-function-of-autonomic-nervous-system-during-paroxysmal-events-in-children-and-adolescents-and-available-diagnostic-methods
#18
REVIEW
Aleksandra Gergont
UNLABELLED: The aims of the study was to establish current knowledge regarding the involvement of autonomic nervous system (ANS) in paroxysmal disorders in children and available diagnostic tools. MATERIAL AND METHODS: Using key words ANS, epilepsy, syncope and breath-holding spells the search was performed in collections of Elsevier and Springer Journals, as well as MEDLINE/PubMed. RESULTS: Manifestation of ANS dysfunction may constitute the group of leading symptoms and signs of many diseases, including epilepsy with autonomic attacks and familial dysautonomia...
2016: Przegla̧d Lekarski
https://www.readbyqxmd.com/read/27282019/syncope-in-children-and-adolescents
#19
REVIEW
Khalil Kanjwal, Sundus Masudi, Blair P Grubb
No abstract text is available yet for this article.
December 2015: Adolescent Medicine: State of the Art Reviews
https://www.readbyqxmd.com/read/27275771/syncope-is-a-frequently-under-diagnosed-condition-in-infants-and-toddlers-and-has-similar-features-to-those-seen-in-adolescents-and-adults
#20
Shiran Sara Moore, Nathan Watemberg
AIM: Vagal syncope may not be readily recognised by the caregivers of younger children, often leading to extensive diagnostic evaluation. Our aim was to determine the characteristics of syncope in younger children and to assess whether this age group was more prone to undergoing extensive diagnostic work-ups and receiving wrong aetiological diagnoses. METHODS: We collected clinical data on children up to six years of age, referred to our paediatric neurology clinic between 2007 and 2014 following one or more episodes of sudden loss of consciousness...
September 2016: Acta Paediatrica
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