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https://www.readbyqxmd.com/read/29156220/the-epilepsy-phenotype-in-adult-patients-with-intellectual-disability-and-pathogenic-copy-number-variants
#1
Giuseppe d'Orsi, Tommaso Martino, Orazio Palumbo, Maria Grazia Pascarella, Pietro Palumbo, Maria Teresa Di Claudio, Carlo Avolio, Massimo Carella
PURPOSE: To characterize the electroclinical features of epilepsy associated with intellectual disability and pathogenic copy number variations (CNVs) METHODS: we prospectively investigated 61 adult patients with epilepsy and intellectual disability or other neurodevelopmental disorders. We performed high resolution SNP-Array analysis in order to detect clinical relevant chromosomal microdeletions and microduplications. An ordinal logistic regression model was fitted with 34 demographic, clinical and EEG-related variables in order to identify the epilepsy phenotype of patients with pathogenic CNVs...
November 14, 2017: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/29150892/expanding-the-neurodevelopmental-phenotype-of-pura-syndrome
#2
Bo Hoon Lee, Margot R F Reijnders, Oluwatobi Abubakare, Emily Tuttle, Brynn Lape, Kelly Q Minks, Christopher Stodgell, Loisa Bennetto, Jennifer Kwon, Chin-To Fong, Karen W Gripp, Eric D Marsh, Wendy E Smith, Ahm M Huq, Stephanie A Coury, Wen-Hann Tan, Orestes Solis, Rupal I Mehta, Richard J Leventer, Diana Baralle, David Hunt, Alex R Paciorkowski
PURA syndrome is a recently described developmental encephalopathy presenting with neonatal hypotonia, feeding difficulties, global developmental delay, severe intellectual disability, and frequent apnea and epilepsy. We describe 18 new individuals with heterozygous sequence variations in PURA. A neuromotor disorder starting with neonatal hyptonia, but ultimately allowing delayed progression to walking, was present in nearly all individuals. Congenital apnea was present in 56% during infancy, but all cases in this cohort resolved during the first year of life...
November 17, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29147480/a-rare-case-of-late-onset-saphenous-vein-graft-spasm
#3
Nirmal Guragai, Upamanyu Rampal, Rahul Vasudev, Hiten Patel, Meherwan B Joshi, Fayez Shamoon
Spasm following coronary artery bypass graft surgery has been well established in arterial grafts, especially in grafts utilizing the internal mammary. Venous graft spasms are uncommon and are only observed in vein grafts during or soon after the coronary artery bypass surgery. It is exceedingly rare to see spasm of venous graft beyond one year of surgery. We report a 72-year-old female who had coronary artery bypass graft three years ago and presented with new onset chest pain for one month. The coronary angiogram revealed severe spasm of the proximal aspect of a patent saphenous venous graft which was relieved by intracoronary nitroglycerine...
2017: Journal of Community Hospital Internal Medicine Perspectives
https://www.readbyqxmd.com/read/29146437/efficacy-of-the-biomedical-glue-sling-technique-versus-the-traditional-technique-for-microvascular-decompression-for-hemifacial-spasm-with-refractory-hypertension
#4
Xin Zhang, Xiaokui Kang, Qunlong Jiang, Hua Zhao, Yinda Tang, Jin Zhu, Ping Zhou, Yan Yuan, Shiting Li
BACKGROUND: Microvascular decompression (MVD) is useful treatment for Hemifacial spasm (HFS) with refractory hypertension (RHTN). Biomedical glue sling technique is a new method for MVD. In this study, we retrospectively compared the outcome of biomedical glue sling technique with traditional technique in MVD for HFS with RHTN. METHODS: A retrospective study of HFS with RHTN treated by MVD was conducted between January 2010 and June 2016. There were 155 patients underwent their first MVD at our institution...
November 13, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/29145188/brueghel-syndrome-or-meige-syndrome-two-sides-of-a-same-disease
#5
M Béreau, L Tatu
Different eponyms such as "Wood syndrome," Meige syndrome, "Brueghel syndrome," "Blepharospasm plus syndrome" have been used to describe segmental craniocervical dystonias. These facial and/or oromandibular movement disorders are characterized by muscle contractions and spasms involving eyes, facial region, and sometimes pharynx, jaw, floor of the mouth, and tongue. The pathophysiology of craniocervical dystonia is poorly understood, but abnormal plasticity and impaired inhibition are suspected. Injection of botulinum toxin appears to be the best therapeutic option for treating segmental craniocervical dystonia...
2018: Frontiers of Neurology and Neuroscience
https://www.readbyqxmd.com/read/29145168/frontal-infraslow-activity-marks-the-motor-spasms-of-anti-lgi1-encephalitis
#6
Richard Wennberg, Claude Steriade, Robert Chen, Danielle Andrade
OBJECTIVE: The clinical and electrographic features of seizures in anti-LGI1 encephalitis are distinct from those seen in other autoimmune encephalitides or non-encephalitic epilepsies. One electroclinical phenomenon specific to the condition consists of lateralized motor spasms, known as faciobrachial dystonic seizures (FBDS). An electrodecremental pattern overriding a "DC shift" has been described as the EEG correlate of these spasms. We sought to further characterize this pre-spasm infraslow activity (ISA)...
October 28, 2017: Clinical Neurophysiology: Official Journal of the International Federation of Clinical Neurophysiology
https://www.readbyqxmd.com/read/29144264/please-diagnose-infantile-spasm-early
#7
Paul G Fisher
No abstract text is available yet for this article.
November 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/29144248/recognition-of-infantile-spasms-is-often-delayed-the-assist-study
#8
Shaun A Hussain, Johnson Lay, Emily Cheng, Julius Weng, Raman Sankar, Christine B Baca
OBJECTIVES: To characterize and quantify diagnostic and treatment delay among children with infantile spasms, and to estimate the developmental impact of this delay. STUDY DESIGN: In this cohort study, we surveyed the parents of 100 patients with infantile spasms about their experiences with diagnosis and treatment, and ascertained medical and sociodemographic factors potentially related to care of these infants. We specifically determined the latency to first visit an "effective provider," defined as a provider who identified infantile spasms, and prescribed an appropriate first-line treatment, namely adrenocorticotropic hormone, corticosteroids, or vigabatrin...
November 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/29144018/navigated-retrograde-endoscopic-myotomy-rem-for-the-treatment-of-therapy-resistant-achalasia
#9
K D Pham, R F Havre, T Langø, E F Hofstad, G A Tangen, R Mårvik, T Pham, O H Gilja, J G Hatlebakk, A Viste
BACKGROUND: In achalasia, muscle spasm may involve the proximal esophagus. When the muscle spasm is located in the proximal esophagus, conventional per oral endoscopic myotomy (POEM) may not be sufficient to relieve symptoms. In this paper, we describe retrograde endoscopic myotomy (REM) as a novel approach to perform myotomy of the proximal esophagus, with the application of a navigation tool for anatomical guidance during REM. We aim to evaluate the feasibility and safety of REM and usefulness of the navigation during REM...
November 16, 2017: Neurogastroenterology and Motility: the Official Journal of the European Gastrointestinal Motility Society
https://www.readbyqxmd.com/read/29143581/multiple-sclerosis-symptoms-and-spasticity-management-new-data
#10
Guillermo Izquierdo
Spasticity, perceived by patients as muscle rigidity and spasms, is a common symptom in multiple sclerosis (MS). It is associated with functional impairment that can exacerbate other MS symptoms and reduce quality of life. Pharmacological treatment options are limited and frequently ineffective. Treatment adherence is a key issue to address in these patients. The efficacy and safety of 9-delta-tetrahydrocannabinol:cannabidiol (THC:CBD) oromucosal spray for treatment of MS spasticity were demonstrated in four Phase III trials...
November 2017: Neurodegenerative Disease Management
https://www.readbyqxmd.com/read/29143297/impact-of-trimetazidine-treatment-on-5-year-clinical-outcomes-in-patients-with-significant-coronary-artery-spasm-a-propensity-score-matching-study
#11
Yong Hoon Kim, Ae-Young Her, Seung-Woon Rha, Byoung Geol Choi, Se Yeon Choi, Jae Kyeong Byun, Ahmed Mashaly, Yoonjee Park, Won Young Jang, Woohyeun Kim, Jah Yeon Choi, Eun Jin Park, Jin Oh Na, Cheol Ung Choi, Hong Euy Lim, Eung Ju Kim, Chang Gyu Park, Hong Seog Seo, Dong Joo Oh
OBJECTIVE: We aimed to evaluate the additive benefit of trimetazidine with well-known antispasmodic agents such as calcium channel blockers and nitrate in patients with significant coronary artery spasm (CAS) as assessed by acetylcholine provocation test up to 5 years. METHODS: A total 1727 patients with significant CAS were enrolled. They were divided into two groups: a trimetazidine group (trimetazidine, diltiazem, and nitrate, n = 695), and control group (diltiazem and nitrate, n = 473)...
November 15, 2017: American Journal of Cardiovascular Drugs: Drugs, Devices, and Other Interventions
https://www.readbyqxmd.com/read/29143107/how-i-do-it-endoscopic-microvascular-decompression-for-hemifacial-spasm-associated-with-the-vertebral-artery
#12
Fuminari Komatsu, Masaaki Imai, Mitsunori Matsumae
BACKGROUND: Microvascular decompression (MVD) of hemifacial spasm (HFS) associated with the vertebral artery (VA) shows higher rates of incomplete cure and complications compared to non-VA-related HFS. METHOD: Purely endoscopic MVD for VA-associated HFS via a retrosigmoid keyhole was performed. Neurovascular conflicts by a directly offending artery and VA around the root exit zone of the facial nerve were clearly demonstrated under 30° endoscopic view without significant cerebellar retraction...
November 15, 2017: Acta Neurochirurgica
https://www.readbyqxmd.com/read/29142097/fast-oscillation-dynamics-during-hypsarrhythmia-as-a-localization-biomarker
#13
Min-Jee Kim, Mi-Sun Yum, Hye-Ryun Yeh, Tae-Sung Ko
Hypsarrhythmia in West syndrome, although hard to define, is characterized by chaotic and disorganized electrical activity of the brain and is often regarded as a generalized EEG pattern without any localization value. Using event-related spectral perturbation (ERSP), we tried to determine the brain dynamics during hypsarrhythmia. Routine 1-h scalp EEGs were retrieved from 31 patients with infantile spasms and 20 age-matched controls. Using the EEGLAB toolbox of MATLAB 2015b, the ERSPs of fast oscillations (FOs; 20-100 Hz) of selected channels were analyzed and compared among groups according to their MRI lesions...
November 15, 2017: Journal of Neurophysiology
https://www.readbyqxmd.com/read/29141310/-analysis-of-gene-mutation-of-early-onset-epileptic-spasm-with-unknown-reason
#14
X Yang, G Pan, W H Li, L M Zhang, B B Wu, H J Wang, P Zhang, S Z Zhou
Objective: To summarize the gene mutation of early onset epileptic spasm with unknown reason. Method: In this prospective study, data of patients with early onset epileptic spasm with unknown reason were collected from neurological department of Children's Hospital of Fudan University between March 2016 and December 2016. Patients with known disorders such as infection, metabolic, structural, immunological problems and known genetic mutations were excluded. Patients with genetic disease that can be diagnosed by clinical manifestations and phenotypic characteristics were also excluded...
November 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/29132808/bilateral-vocal-fold-medialization-a-treatment-for-abductor-spasmodic-dysphonia
#15
Karuna Dewan, Gerald S Berke
INTRODUCTION: Abductor spasmodic dysphonia, a difficult-to-treat laryngologic condition, is characterized by spasms causing the vocal folds to remain abducted despite efforts to adduct them during phonation. Traditional treatment for abductor spasmodic dysphonia-botulinum toxin injection into the posterior cricoarytenoid muscle-can be both technically challenging and uncomfortable. Due to the difficulty of needle placement, it is often unsuccessful. The purpose of this investigation is to present a previously undescribed treatment for abductor spasmodic dysphonia-bilateral vocal fold medialization...
November 10, 2017: Journal of Voice: Official Journal of the Voice Foundation
https://www.readbyqxmd.com/read/29131513/role-of-vascular-ultrasound-scanning-in-repeated-trans-radial-coronary-artery-intervention-prospective-randomized-study
#16
Mahmoud Farouk Elmahdy, Mohamed Hassan, Ahmed Elguindy
OBJECTIVES: We aimed to detect if pre-procedure vascular ultrasound scanning (VUS) of radial arteries (RAs) can increase the radial access success (RAS) rate and/or reduce the vascular access time (VAT), by guiding the choice of the proper access site for repeated trans-radial interventions (TRIs). BACKGROUND: Currently, repeated-TRIs are encountered more frequently in most of the cath. labs. However, structural changes of the RAs after TRA may hinder it is usage for repeated-TRI...
November 13, 2017: Catheterization and Cardiovascular Interventions
https://www.readbyqxmd.com/read/29131041/skin-manifestations-of-targeted-antineoplastic-therapy
#17
Onofre Sanmartín
The management of oncology patients has changed significantly over recent years, with the development of new targeted anticancer therapies. Cutaneous adverse effects are among the most frequently observed toxicities with many targeted agents; their intensity can be dose-limiting or lead to the discontinuation of therapy. Tyrosine kinase inhibitors can cause maculopapular rash and hand-foot reaction, whereas papulopustular rash, paronychia, regulatory changes in hair, and dryness are caused by epidermal growth factor receptor inhibitors...
2018: Current Problems in Dermatology
https://www.readbyqxmd.com/read/29129154/predictors-of-drug-resistant-epilepsy-in-tuberous-sclerosis-complex
#18
Anna Jeong, Jo Anne Nakagawa, Michael Wong
Utilizing the multicenter TSC (tuberous sclerosis complex) Natural History Database including 2034 subjects, this study aimed to identify predictors of drug-resistant epilepsy in TSC. Basic epilepsy data were available for 1965 individuals in the database. Supplemental data were further collected from 1546 of these subjects through directed site queries, addressing additional epilepsy characteristics including the presence of drug-resistant epilepsy, therapies trialed, and outcomes of specific therapies. Epilepsy was reported in 86...
December 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/29126457/chest-compression-related-fatal-internal-mammary-artery-injuries-manifesting-after-venoarterial-extracorporeal-membrane-oxygenation-a-case-series
#19
Toshinobu Yamagishi, Masahiro Kashiura, Kazuhiro Sugiyama, Kazuha Nakamura, Takuto Ishida, Takahiro Yukawa, Kazuki Miyazaki, Takahiro Tanabe, Yuichi Hamabe
BACKGROUND: Cardiopulmonary resuscitation-related bleeding, especially internal mammary artery injuries, can become life-threatening complications after initiating venoarterial extracorporeal membrane oxygenation owing to the frequent involvement of concomitant anticoagulant treatment, antiplatelet treatment, targeted temperature management, and bleeding coagulopathy. We report the cases of five patients who experienced this complication and discuss their management. CASE PRESENTATION: We retrospectively evaluated five patients with cardiopulmonary resuscitation-related internal mammary artery injuries who were treated between February 2011 and February 2016 at our institution...
November 11, 2017: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/29124438/reorganization-of-sensory-input-at-brainstem-in-hemifacial-spasm-and-postparalytic-facial-syndrome
#20
Meral E Kızıltan, Ayşegul Gunduz
We hypothesized the filtering of sensory input from face and hand at brainstem may reorganize in hemifacial spasm (HFS) and postparalytic facial syndrome (PFS). Thus, we examined the prepulse inhibition of blink reflex (BR-PPI) in HFS and PFS. We included 12 healthy subjects, 13 patients with HFS, and 11 patients with PFS. Baseline BR, BR recovery at interstimulus interval (ISI) of 300 ms and BR-PPI at ISI of 100 ms were performed on the right sides of healthy subjects and on both sides of patients. Within-subject analysis showed baseline BR and BR-PPI were similar between asymptomatic and symptomatic sides of patients with HFS whereas BR recovery was higher on the symptomatic side...
November 9, 2017: Neurological Sciences
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