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https://www.readbyqxmd.com/read/29045977/-clinical-and-genetic-characteristics-of-williams-beuren-syndrome-2-cases-report
#1
S Q Wang, Z X Yang, H Li
To explore the clinical and genetic characteristics of Williams-Beuren syndrome (WBS) and to raise awareness of the disease. The characteristics of clinical manifestations, personal history, cardiac ultrasound, brain magnetic resonance imaging (MRI), electroencephalogram (EEG) and chromosome detection results of two cases with WBS were analyzed. The two patients were both male and the age was 11 months and 1 day, and 9 months and 9 days, respectively. They both suffered from cardiovascular malformation: case one presented supravalvular aortic stenosis, and case two showed atrial septal defect and patent ductus arteriosus...
October 18, 2017: Beijing da Xue Xue Bao. Yi Xue Ban, Journal of Peking University. Health Sciences
https://www.readbyqxmd.com/read/29042939/aphasic-status-epilepticus-as-the-sole-symptom-of-epilepsy-a-case-report-and-literature-review
#2
Ji-Qing Qiu, Yu Cui, Li-Chao Sun, Zhan-Peng Zhu
Aphasia is a common symptom encountered by neurologists. However, the presence of aphasia as the sole manifestation of partial status epilepticus is rare. The present study reports a case of aphasic status epilepticus in a 27-year-old right-handed female who presented after the abrupt onset of aphasia, which had persisted for 1.5 days. The patient's medical history included head trauma followed by a craniectomy and cranioplasty. Computed tomography scans revealed a lesion in the patient's left parietal lobe, and an electroencephalogram showed a spike and slow wave pattern in the left hemisphere of the brain during aphasia...
October 2017: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/29042752/spotlight-on-perampanel-in-the-management-of-seizures-design-development-and-an-update-on-place-in-therapy
#3
REVIEW
Michele A Faulkner
PURPOSE: Perampanel is a first-in-class antiepileptic medication approved for the treatment of partial (focal) seizures, and as adjunctive treatment for primarily generalized tonic-clonic seizures. The pharmacology, efficacy data, adverse-effect profile, pharmacokinetics and place in therapy are reviewed. SUMMARY: Perampanel is indicated for use in patients with epilepsy who are 12 years of age or older. It is the first medication designed specifically to be a non-competitive antagonist at post-synaptic α-amino-3-hydroxyl-5-methyl-4-isoxazole-propionate receptors...
2017: Drug Design, Development and Therapy
https://www.readbyqxmd.com/read/29042521/-transition-of-children-with-epilepsy-to-adult-care-current-status-and-challenge
#4
Hidemoto Kubota
Thirty percent of the patients consulting a pediatric neurologist have already reached adulthood as patients and their families do not like transfer to the adult clinics; moreover, there are no suitable clinics. Pediatric neurologists find it difficult to examine adult patients with childhood-onset epilepsy as they are unfamiliar with the psychiatric and psychological symptoms manifested in adulthood, and the common diseases of adulthood. On the other hand, adult neurologists have difficulty obtaining a complete picture of the patient's clinical history since childhood, and are unfamiliar with childhood-specific epilepsy syndrome...
October 2017: Brain and Nerve, Shinkei Kenkyū No Shinpo
https://www.readbyqxmd.com/read/29035798/sexual-function-and-related-factors-in-iranian-woman-with-epilepsy
#5
Zahra Atarodi-Kashani, Nourossadat Kariman, Abbas Ebadi, Hamid Alavi Majd, Nahid Beladi-Moghadam
PURPOSE: Epileptic women are faced with many sexual challenges in their life due to medical and non-medical factors. The present study was conducted to assess sexual function in epileptic women and its related factors. METHOD: The present cross-sectional study was conducted on 196 epileptic married women of reproductive age who were members of the Iranian Epilepsy Association and were selected continuously over six months through convenience sampling. The data collection tools included the Female Sexual Function Index (FSFI) and questions about the causes of sexual dysfunction...
October 5, 2017: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/29034463/statin-treatment-may-lower-the-risk-of-postradiation-epilepsy-in-patients-with-nasopharyngeal-carcinoma
#6
Xiaoming Rong, Jing Yin, Hongxuan Wang, Xiaoni Zhang, Ying Peng
OBJECTIVE: This study aimed to clarify the effect of statins on preventing the risk of postradiation epilepsy. METHODS: We performed a retrospective analysis of neurological nasopharyngeal carcinoma patients with a history of radiotherapy. Patients with a history of epilepsy before radiation and those who received prophylactically antiepileptic treatment were excluded. The demographic and clinical data of these patients were collected through chart review. We used Kaplan-Meier analysis (log-rank test) to examine the effect of statins on epilepsy-free survival...
October 16, 2017: Epilepsia
https://www.readbyqxmd.com/read/29034101/lamotrigine-induced-sexual-dysfunction-and-non-adherence-case-analysis-with-literature-review
#7
Kenneth R Kaufman, Melissa Coluccio, Kartik Sivaraaman, Miriam Campeas
BACKGROUND: Optimal anti-epileptic drug (AED) treatment maximises therapeutic response and minimises adverse effects (AEs). Key to therapeutic AED treatment is adherence. Non-adherence is often related to severity of AEs. Frequently, patients do not spontaneously report, and clinicians do not specifically query, critical AEs that lead to non-adherence, including sexual dysfunction. Sexual dysfunction prevalence in patients with epilepsy ranges from 40 to 70%, often related to AEDs, epilepsy or mood states...
September 2017: BJPsych Open
https://www.readbyqxmd.com/read/29031194/the-prevalence-and-characteristics-of-epilepsy-in-patients-with-multiple-sclerosis-in-nordland-county-norway
#8
Espen Benjaminsen, Kjell-Morten Myhr, Karl B Alstadhaug
PURPOSE: The prevalence of epilepsy among patients with multiple sclerosis (MS) has been found higher than in the general population. Although cortical pathology may be involved, the causal link between MS and epileptic seizures is still unclear. We aimed to identify and describe the patients with active epilepsy in a previously described population based MS-cohort. METHODS: Medical records of all patients with MS in Nordland County on January 1, 2010, were scrutinizing for evidence of comorbid seizures and epilepsy...
October 6, 2017: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/29031192/growth-and-endocrine-function-in-children-with-dravet-syndrome
#9
Krista Eschbach, Sharon Scarbro, Elizabeth Juarez-Colunga, Victoria Allen, Stephanie Hsu, Kelly Knupp
PURPOSE: Dravet syndrome is an intractable childhood epilepsy syndrome most often associated with an SCN1A mutation. In our clinical practice, several patients with Dravet syndrome were noted to have short stature and endocrine dysfunction. This has not been reported in the literature. Our study aim was to describe growth measurements and endocrine abnormalities in children with Dravet syndrome. METHOD: A retrospective chart review was performed at a single institution...
September 29, 2017: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/29028517/effect-of-carbamazepine-and-oxcarbazepine-on-serum-neuron-specific-enolase-in-focal-seizures-a-randomized-controlled-trial
#10
Rituparna Maiti, Biswa Ranjan Mishra, Soham Sanyal, Debadatta Mohapatra, Sansita Parida, Archana Mishra
Neuron-specific enolase (NSE) is the most investigated biomarker in the context of epilepsy and brain damage. The present study was conducted to investigate the change in serum NSE in patients with focal seizure and the effect of carbamazepine and oxcarbazepine on serum NSE. The present study is a randomized, open-label, parallel design clinical trial (ClinicalTrials.gov Identifier: NCT02705768) conducted on 60 patients of focal seizure. After recruitment, detailed history, clinical evaluations including Chalfont-National Hospital seizure severity scale (NHS3), Quality of Life in Epilepsy Inventory (QOLIE-31) and serum NSE estimation were done at baseline...
October 6, 2017: Epilepsy Research
https://www.readbyqxmd.com/read/29021465/a-case-of-insulinoma-with-a-history-of-epilepsy-still-a-possible-misleading-factor-in-the-early-diagnosis-of-insulinoma
#11
Takaaki Murakami, Takafumi Yamashita, Daisuke Yabe, Toshihiko Masui, Yuki Teramoto, Sachiko Minamiguchi, Keisho Hirota, Masahito Ogura, Kazuaki Nagashima, Nobuya Inagaki
A delayed diagnosis of insulinoma remains a clinical issue. Hypoglycemic symptoms can mimic neuropsychiatric disorders such as epilepsy. A 27-year-old woman with a history of epilepsy and anti-epileptic drugs (AEDs) developed repeated seizures and neuropsychiatric symptoms after a 9-year asymptomatic interval. She had received transient treatment with AEDs before the possibility of hypoglycemia was considered. Following a clinical diagnosis of insulinoma, distal pancreatectomy was performed; her seizures didn't occur again...
October 11, 2017: Internal Medicine
https://www.readbyqxmd.com/read/29016869/clinical-characteristics-associated-with-postoperative-seizure-control-in-adult-low-grade-gliomas-a-systematic-review-and-meta-analysis
#12
Xia Shan, Xing Fan, Xing Liu, Zheng Zhao, Yinyan Wang, Tao Jiang
Background: Epilepsy is the most common symptom in patients with supratentorial low-grade gliomas (LGGs), which adversely affects the patient's quality of life. Poor seizure control with antiepileptic therapy is an indication for surgery in these patients. Recent studies have sought to identify predictors of postoperative seizure control after surgical resection of LGG; gross-total resection was shown to be a significant predictor in this respect. However, the prognostic value of other factors is not clear...
July 17, 2017: Neuro-oncology
https://www.readbyqxmd.com/read/28991673/mortality-and-morbidity-among-hospitalized-adult-patients-with-neurological-diseases-in-cameroon
#13
Katie Kompoliti, Jacques Doumbe, Yacoumba Njankouo Mapoure, Theophile Nyinyikua, Bichun Ouyang, Hiral Shah, Sara Calvo, Abel Fernandez-Sierra, Maria Esther Cubo Delgado
BACKGROUND: There is inadequate information on the morbidity and mortality (M&M) from neurological diseases in sub-Saharan Africa. OBJECTIVE: To record the M&M from neurological diseases in adults in Cameroon from 2013 to 2015 using a registry and surveillance from two urban health care centers. METHODS: Records from all adult admissions from two urban hospitals over a two year period were reviewed. Adult cases with neurological diagnosis as the main cause for admission were identified...
October 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28987826/orbital-compartment-syndrome-after-frontotemporal-craniotomy-case-report-and-review-of-literature
#14
F H Pahl, M F Oliveira, J E Dal Col Lucio, E F Souza E Castro
INTRODUCTION: Orbital compartment syndrome (OCS) is a rare condition characterized by increased intraorbital pressure and hypoperfusion of critical neural structures and usually associated with external ophthalmoplegia. We report a case of postoperative OCS following a frontotemporal craniotomy and review pertinent literature. CASE DESCRIPTION: A 3-year-old female patient presented with a 3-year history of refractory epilepsy and diagnosis of right frontobasal cortical dysplasia...
October 4, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28983881/alzheimer-s-disease-and-driving-review-of-the-literature-and-consensus-guideline-from-belgian-dementia-experts-and-the-belgian-road-safety-institute-endorsed-by-the-belgian-medical-association
#15
Jan Versijpt, Mark Tant, Ingo Beyer, Jean-Christophe Bier, Patrick Cras, Peter P De Deyn, Patrick De Wit, Olivier Deryck, Bernard Hanseeuw, Margareta Lambert, Jean-Claude Lemper, Eric Mormont, Mirko Petrovic, Gaetane Picard, Eric Salmon, Kurt Segers, Anne Sieben, Evert Thiery, Jos Tournoy, Maurits Vandewoude, Manfredi Ventura, Jurn Verschraegen, Sebastiaan Engelborghs, Tom Goffin, Michel Deneyer, Adrian Ivanoiu
Alzheimer's disease (AD) is a highly prevalent condition and its prevalence is expected to further increase due to the aging of the general population. It is obvious that the diagnosis of AD has implications for driving. Finally, driving discussions are also emotionally charged because driving is associated with independence and personal identity. However, it is not clear how to implement this in clinical practice and the Belgian law on driving is rather vague in its referral to neurodegenerative brain diseases in general nor does it provide clear-cut instructions for dementia or AD compared to for example driving for patients with epilepsy and as such does not prove to be very helpful...
October 5, 2017: Acta Neurologica Belgica
https://www.readbyqxmd.com/read/28982809/understanding-the-health-economic-burden-of-patients-with-tuberous-sclerosis-complex-tsc-with-epilepsy-a-retrospective-cohort-study-in-the-uk-clinical-practice-research-datalink-cprd
#16
Charles Shepherd, Matthias Koepp, Melissa Myland, Keyur Patel, Cristiana Miglio, Vathani Siva, Elizabeth Gray, Maureen Neary
INTRODUCTION: Epilepsy is highly prevalent in tuberous sclerosis complex (TSC), a multi-system genetic disorder. The clinical and economic burden of this condition is expected to be substantial due to treatment challenges, debilitating co-morbidities and the relationship between TSC-related manifestations. This study estimated healthcare resource utilisation (HCRU) and costs for patients with TSC with epilepsy (TSC+E) in the UK. METHODS: Patients with TSC+E in the Clinical Practice Research Datalink (CPRD) linked to Hospital Episodes Statistics were identified from April 1997 to March 2012...
October 5, 2017: BMJ Open
https://www.readbyqxmd.com/read/28980702/detection-of-generalized-tonic-clonic-seizures-using-surface-electromyographic-monitoring
#17
Jonathan J Halford, Michael R Sperling, Dileep R Nair, Dennis J Dlugos, William O Tatum, Jay Harvey, Jacqueline A French, John R Pollard, Edward Faught, Katherine H Noe, Thomas R Henry, Gina M Jetter, Octavian V Lie, Lola C Morgan, Michael R Girouard, Damon P Cardenas, Luke E Whitmire, Jose E Cavazos
OBJECTIVE: A prospective multicenter phase III trial was undertaken to evaluate the performance and tolerability in the epilepsy monitoring unit (EMU) of an investigational wearable surface electromyographic (sEMG) monitoring system for the detection of generalized tonic-clonic seizures (GTCSs). METHODS: One hundred ninety-nine patients with a history of GTCSs who were admitted to the EMU in 11 level IV epilepsy centers for clinically indicated video-electroencephalographic monitoring also received sEMG monitoring with a wearable device that was worn on the arm over the biceps muscle...
October 5, 2017: Epilepsia
https://www.readbyqxmd.com/read/28979739/epilepsy-as-a-health-problem-among-school-children-in-turaif-northern-saudi-arabia-2017
#18
Mahmoud Mohammed Alsharif, Nagah Mohamed Abo El-Fetoh, Gihan Yousef Ali, Khulud Falah Alanazi, Anfal Nayir Alanazi, Ohud FalahAlanazi, Maha Hazzaa Alshalan, Zuhur Dhaher Alfuhigi, Anwar Eid Alruwaili, Reem Sebeh Alhazmi, Ajaweed Saud Muharrab Alruwaili, Tariq Mozil Aquab Alanizy, Jazzaa Hammad Alshammari, Alwaleed Oqab Altimyat, Muharib Mana Muhaylan Alshammari
BACKGROUND: Epilepsy is the most common serious neurological disorder and is one of the world's most prevalent non-communicable diseases. There are no recently published data on the prevalence of epilepsy in school children in Northern Saudi Arabia. OBJECTIVE: This study was conducted to determine the prevalence of epilepsy and to show some of its risk factors in school children and adolescents (6-18 years) in Turaif city, Northern Saudi Arabia. METHODS: This, population-based, cross-sectional study was conducted in Turaif city, over a 6-month period, from July 2016 to January 2017...
August 2017: Electronic Physician
https://www.readbyqxmd.com/read/28965695/-evaluating-a-child-after-a-febrile-seizure-insights-on-three-important-issues
#19
S Auvin, M Antonios, G Benoist, M-A Dommergues, F Corrard, V Gajdos, C Gras Leguen, E Launay, A Salaün, L Titomanlio, L Vallée, M Milh
Febrile seizures (FS) are the most common seizures seen in the paediatric population in the out-of-hospital and emergency department settings, and they account for the majority of seizures seen in children younger than 5 years old. An FS is a seizure accompanied by fever, without central nervous system infection, occurring in children between 6 months and 5 years old. Five criteria have been used and taught to classify any FS as simple or complex FS. These factors do not bear the same significance for clinical practice, in particular, the decision to perform a lumbar puncture for cerebrospinal fluid analysis to rule out an intracranial infection...
September 28, 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/28948142/lacosamide-for-refractory-generalized-tonic-clonic-seizures-of-non-focal-origin-in-clinical-practice-a-clinical-and-veeg-study
#20
Belén Abarrategui, María Eugenia García-García, Rafael Toledano, Beatriz Parejo-Carbonell, Antonio Gil-Nagel, Irene García-Morales
•7 of 9 patients with GGE reduced ≥ 50% their tonic-clonic seizure frequency on LCM.•All 7 patients remained seizure free for > 1 year, and 2 of them for > 5 years.•In 2 of the 9 patients, both with Juvenile Absence Epilepsy, absences aggravated.•One aggravation consisted on a myoclonia and absence status, in a patient with no history of myoclonia.•VEEG paralleled clinical improvement but didn't change in a case of absence worsening.
2017: Epilepsy & Behavior Case Reports
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