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Infantile spasms

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https://www.readbyqxmd.com/read/29342031/adenocarcinoma-of-pigmented-ciliary-epithelium-in-a-child-with-aicardi-syndrome-and-congenital-microphthalmia-with-cyst
#1
Jennifer Lira, Duncan E Berry, Christopher L Weller, Alan D Proia, Ilya M Leyngold
A 5-year-old girl with Aicardi syndrome and microphthalmia with cyst of the OD presented with progressive enlargement of the cyst causing pain. Microophthalmia with inferior cyst (35 × 25 × 12 mm) was noted at birth, and Aicardi syndrome was diagnosed at 10 months by the presence of the classic triad of callosal agenesis, infantile spasms, and chorioretinal lacunae. She underwent enucleation with cyst resection, and subsequent reconstruction with a dermis fat graft. Histopathologic study revealed adenocarcinoma of the pigmented ciliary epithelium...
January 16, 2018: Ophthalmic Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/29321200/bilateral-haemorrhagic-basal-ganglia-infarction-associated-with-early-onset-group-b-streptococcus-meningitis
#2
Rajesh Gupta, Taiwo Maraiyesa, Brendon Conry
A 2-day-old infant presented with poor feeding and grunting. Investigations revealed a raised C reactive protein of 164. Full septic screen was done, which subsequently confirmed a diagnosis of group B streptococcus meningitis. Baby was apyrexial and haemodynamically stable. There were no obvious neurological manifestations, and a routine cranial ultrasound scan was done, which revealed echogenic changes in the basal ganglia and thalami. MRI brain showed extensive haemorrhagic infarction within the lentiform and caudate nuclei with involvement of both posterior limbs of the internal capsule...
January 9, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29258718/different-mri-defined-tuber-types-in-tuberous-sclerosis-complex-quantitative-evaluation-and-association-with-disease-manifestations
#3
Simonas Jesmanas, Kristina Norvainytė, Rymantė Gleiznienė, Renata Šimoliūnienė, Milda Endzinienė
BACKGROUND: Tuberous sclerosis complex (TSC) is a rare genetic disorder with multisystem involvement. A magnetic-resonance (MRI) based classification of tubers into types A, B and C has been proposed. However, the relationship between different tuber types and their quantitative characteristics, also the non-neurological manifestations of TSC remains unknown. AIMS: To quantitatively evaluate different MRI-defined tuber types and to explore their relationships with major disease manifestations in patients with tuberous sclerosis complex...
December 16, 2017: Brain & Development
https://www.readbyqxmd.com/read/29249509/what-is-the-relationship-between-autism-spectrum-disorders-and-epilepsy
#4
Roberto Tuchman
The association of epilepsy and autism spectrum disorders (ASD) is best understood by examining the relationship between social cognition, nonsocial cognition, and epilepsy. The relationship between ASD and epilepsy is bidirectional and is strongly linked to intellectual disability (ID). The risk of developing ASD in children with epilepsy is highest in children with early onset seizures, with a high prevalence in children with infantile spasms. The risk of developing epilepsy in children first diagnosed with ASD is highest in those with ID...
November 2017: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/29249447/people-with-epilepsy-are-diagnosed-most-often-with-unspecified-epilepsy-followed-by-focal-epilepsy-generalized-convulsive-epilepsy-and-generalized-nonconvulsive-epilepsy-us-marketscan-data-2010-2015
#5
Sanjeeb Sapkota, Rosemarie Kobau, Daniel M Pastula, Matthew M Zack
The distribution of epilepsy types varies by age, etiology, provider diagnostic capabilities, and assessment criteria. No recent US study has examined the distribution of epilepsy types in a large, population-based sample of people with epilepsy. We used MarketScan data from January 1, 2010 through September 30, 2015, to estimate the proportion of epilepsy types among all (N=370,570) individuals diagnosed with epilepsy. We identified cases of epilepsy as individuals with at least one International Classification of Disease, 9th version (ICD-9) diagnostic code of 345...
December 14, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/29227268/characteristics-of-west-syndrome-in-georgia-preliminary-results-of-the-prospective-study
#6
A Kvernadze, N Tatishvili, T Kipiani, G Lomidze
West syndrome hasn't been thoroughly investigated in Georgia. The purposes of our study were a) to assess the clinical and etiological peculiarities of West syndrome, based on MRI data and its relation to the long-term outcome; b) to assess the evolution of West syndrome and its relation to patient characteristics; c) to compare the efficacies of treatments with ACTH and antiepileptic drugs (AEDs); d) to evaluate the neuropsychological outcome after 12 and 24 months and their early predictors. We evaluated 31 patients (17 male, 14 female) with infantile spasms...
November 2017: Georgian Medical News
https://www.readbyqxmd.com/read/29225541/should-you-use-acth-or-vigabatrin-for-infantile-spasms-or-why-not-use-both-together
#7
COMMENT
Prakash Kotagal
No abstract text is available yet for this article.
September 2017: Epilepsy Currents
https://www.readbyqxmd.com/read/29217977/combined-treatment-of-vigabatrin-and-corticoids-for-infantile-spasms-a-superiority-complex-or-truly-superior-to-corticoids-monotherapy
#8
COMMENT
Ajay Gupta
No abstract text is available yet for this article.
November 2017: Epilepsy Currents
https://www.readbyqxmd.com/read/29214672/region-specific-deletions-of-the-glutamate-transporter-glt1-differentially-affect-seizure-activity-and-neurodegeneration-in-mice
#9
Junya Sugimoto, Moeko Tanaka, Kaori Sugiyama, Yukiko Ito, Hidenori Aizawa, Miho Soma, Tomoko Shimizu, Akira Mitani, Kohichi Tanaka
Glial glutamate transporter GLT1 plays a key role in the maintenance of extracellular glutamate homeostasis. Recent human genetic studies have suggested that de novo mutations in GLT1 (EAAT2) cause early-onset epilepsy with multiple seizure types. Consistent with these findings, global GLT1 null mice show lethal spontaneous seizures. The consequences of GLT1 dysfunction vary between different brain regions, suggesting that the role of GLT1 dysfunction in epilepsy may also vary with brain regions. In this study, we generated region-specific GLT1 knockout mice by crossing floxed-GLT1 mice with mice that express the Cre recombinase in a particular domain of the ventricular zone...
December 6, 2017: Glia
https://www.readbyqxmd.com/read/29212048/electroclinical-features-of-epilepsy-associated-with-1p36-deletion-syndrome-a-review
#10
REVIEW
M Greco, P Ferrara, G Farello, P Striano, A Verrotti
1p36 terminal deletion is a recently recognized syndrome with multiple congenital anomalies and intellectual disability. It occurs approximately in 1 out of 5000 to 10,000 live births and is the most common subtelomeric microdeletion observed in human. Medical problems commonly caused by terminal deletions of 1p36 include developmental delay, intellectual disability, seizures, vision problems, hearing loss, short stature, brain anomalies, congenital heart defects, cardiomyopathy, renal anomalies and distinctive facial features...
December 2, 2017: Epilepsy Research
https://www.readbyqxmd.com/read/29190579/efficacy-and-safety-of-vigabatrin-in-japanese-patients-with-infantile-spasms-primary-short-term-study-and-extension-study
#11
Yoko Ohtsuka
Vigabatrin was approved for the treatment of infantile spasms by the US Food and Drug Administration, but not in Japan at the time of initiating this clinical study because of concerns about irreversible peripheral visual field defects (VFDs). This study evaluated the efficacy and safety of vigabatrin for Japanese patients with infantile spasms. Of 15 patients (aged ≥4weeks and <2years) enrolled, with the exception of two patients who did not receive vigabatrin, 13 were treated with a titrated dosage of vigabatrin (50-150mg/kg/day; limited to 3000mg/day)...
November 27, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/29150892/expanding-the-neurodevelopmental-phenotype-of-pura-syndrome
#12
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/29144264/please-diagnose-infantile-spasm-early
#13
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
#14
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/29142097/fast-oscillation-dynamics-during-hypsarrhythmia-as-a-localization-biomarker
#15
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/29129154/predictors-of-drug-resistant-epilepsy-in-tuberous-sclerosis-complex
#16
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/29119560/prevalence-and-risk-factors-for-autism-spectrum-disorder-in-epilepsy-a-systematic-review-and-meta-analysis
#17
REVIEW
Lauren Strasser, Michelle Downes, Jane Kung, J Helen Cross, Michelle De Haan
AIM: To assess the prevalence and risk factors for autism spectrum disorder (ASD) in epilepsy, and to better understand the relationship and comorbidity between these disorders. METHOD: PsychINFO and PubMed were searched for articles published in the past 15 years that examined the prevalence of ASD in individuals with epilepsy. RESULTS: A total of 19 studies were found with a pooled ASD prevalence of 6.3% in epilepsy. When divided by type, the risks of ASD for general epilepsy, infantile spasms, focal seizures, and Dravet syndrome were 4...
January 2018: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/29105055/the-impact-of-hypsarrhythmia-on-infantile-spasms-treatment-response-observational-cohort-study-from-the-national-infantile-spasms-consortium
#18
Scott T Demarest, Renée A Shellhaas, William D Gaillard, Cynthia Keator, Katherine C Nickels, Shaun A Hussain, Tobias Loddenkemper, Anup D Patel, Russell P Saneto, Elaine Wirrell, Iván Sánchez Fernández, Catherine J Chu, Zachary Grinspan, Courtney J Wusthoff, Sucheta Joshi, Ismail S Mohamed, Carl E Stafstrom, Cynthia V Stack, Elissa Yozawitz, Judith S Bluvstein, Rani K Singh, Kelly G Knupp
OBJECTIVE: The multicenter National Infantile Spasms Consortium prospective cohort was used to compare outcomes and phenotypic features of patients with infantile spasms with and without hypsarrhythmia. METHODS: Patients aged 2 months to 2 years were enrolled prospectively with new-onset infantile spasms. Treatment choice and categorization of hypsarrhythmia were determined clinically at each site. Response to therapy was defined as resolution of clinical spasms (and hypsarrhythmia if present) without relapse 3 months after initiation...
December 2017: Epilepsia
https://www.readbyqxmd.com/read/29073472/epilepsy-may-be-the-major-risk-factor-of-mental-retardation-in-children-with-tuberous-sclerosis-a-retrospective-cohort-study
#19
Yang-Yang Wang, Ling-Yu Pang, Shu-Fang Ma, Meng-Na Zhang, Li-Ying Liu, Li-Ping Zou
Mental retardation (MR) is one of the most common cognitive comorbidities in children with tuberous sclerosis, and there are enormous studies about its risk factors. The genetic difference and the severity of epilepsy are the two main factors, but their weight in the occurrence of MR is still unclear. Two hundred twenty-three patients with tuberous sclerosis who received intelligence assessment, genetic mutation analysis, and the epilepsy severity assessment were included in our study. Genotype-neurocognitive phenotype correlations and epilepsy-neurocognitive phenotype correlations were analyzed by binary logistic regression analysis...
December 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/29054612/dihydropyrimidinase-deficiency-in-four-east-asian-patients-due-to-novel-and-rare-dpys-mutations-affecting-protein-structural-integrity-and-catalytic-activity
#20
Yoko Nakajima, Judith Meijer, Doreen Dobritzsch, Tetsuya Ito, Chunhua Zhang, Xu Wang, Yoriko Watanabe, Kyoko Tashiro, Rutger Meinsma, Jeroen Roelofsen, Lida Zoetekouw, André B P van Kuilenburg
Dihydropyrimidinase (DHP) is the second enzyme of the pyrimidine degradation pathway and catalyzes the ring opening of 5,6-dihydrouracil and 5,6-dihydrothymine. To date, only 31 genetically confirmed patients with a DHP deficiency have been reported and the clinical, biochemical and genetic spectrum of DHP deficient patients is, therefore, still largely unknown. Here, we show that 4 newly identified DHP deficient patients presented with strongly elevated levels of 5,6-dihydrouracil and 5,6-dihydrothymine in urine and a highly variable clinical presentation, ranging from asymptomatic to infantile spasm and reduced white matter and brain atrophy...
October 12, 2017: Molecular Genetics and Metabolism
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