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Infantile spasm

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https://www.readbyqxmd.com/read/29441456/knowledge-attitude-and-practice-kap-study-of-pediatricians-on-infantile-spasms
#1
Vamsi Krishna Vaddi, Jitendra Kumar Sahu, Sumeet R Dhawan, Renu Suthar, Naveen Sankhyan
OBJECTIVE: To investigate the knowledge, attitude, and practice of Infantile Spasms among pediatricians. METHODS: A survey was carried out among pediatricians serving in Punjab, Haryana, Chandigarh, Himachal Pradesh and Delhi. The survey was done by Survey Monkey Software through emails by using a structured questionnaire between July 2016 and December 2017. RESULTS: A total of 236 pediatricians responded to the survey. Most of the respondents (95...
February 14, 2018: Indian Journal of Pediatrics
https://www.readbyqxmd.com/read/29429466/-recurrent-convulsion-and-pulmonary-infection-complicated-by-psychomotor-retardation-in-an-infant
#2
Juan Xiong, Jing Peng, Hao-Lin Duan, Chen Chen, Xiao-Le Wang, Shi-Meng Chen, Fei Yin
A 4-month-old girl developed convulsion in the neonatal period, which was focal motor seizures in the initial stage and later became spasm and tonic spasm. And the girl also had psychomotor retardation and recurrent pulmonary infection. Electroencephalography showed hypsarrhythmia, normal results were obtained from cranial magnetic resonance imaging, cerebrospinal fluid examination, and urine organic acid analysis, as well as the spectral analyses of blood ammonia, blood lactic acid, blood amino acids, and acylcarnitines...
February 2018: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/29410512/clinical-and-molecular-characteristics-of-newly-reported-mitochondrial-disease-entity-caused-by-biallelic-pars2-mutations
#3
Elżbieta Ciara, Dariusz Rokicki, Michal Lazniewski, Hanna Mierzewska, Elżbieta Jurkiewicz, Monika Bekiesińska-Figatowska, Dorota Piekutowska-Abramczuk, Katarzyna Iwanicka-Pronicka, Edyta Szymańska, Piotr Stawiński, Joanna Kosińska, Agnieszka Pollak, Maciej Pronicki, Dariusz Plewczyński, Rafał Płoski, Ewa Pronicka
Most of the 19 mitochondrial aminoacyl-tRNA synthetases (mt-aaRSs) involved in mitochondrial protein synthesis are already linked to specific entities, one of the exceptions being PARS2 mutations for which pathogenic significance is not finally validated. The aim of the study was to characterize the PARS2- related phenotype.Three siblings with biallelic PARS2 mutations presented from birth with infantile spasms, secondary microcephaly, and similar facial dysmorphy. Mental development was deeply impaired with speech absence and no eye contact...
February 6, 2018: Journal of Human Genetics
https://www.readbyqxmd.com/read/29396367/rp-hplc-method-for-simultaneous-estimation-of-vigabatrin-gamma-aminobutyric-acid-and-taurine-in-biological-samples
#4
Anitha Police, Vijay Kumar Shankar, S Narasimha Murthy
Vigabatrin is used as first line drug in treatment of infantile spasms for its potential benefit overweighing risk of causing permanent peripheral visual field defects and retinal damage. Chronic administration of vigabatrin in rats has demonstrated these ocular events are result of GABA accumulation and depletion of taurine levels in retinal tissues. In vigabatrin clinical studies taurine plasma level is considered as biomarker for studying structure and function of retina. The analytical method is essential to monitor taurine levels along with vigabatrin and GABA...
January 7, 2018: Journal of Chromatography. B, Analytical Technologies in the Biomedical and Life Sciences
https://www.readbyqxmd.com/read/29381910/somatic-kras-mutation-in-an-infant-with-linear-nevus-sebaceous-syndrome-associated-with-lymphatic-malformations-a-case-report-and-literature-review
#5
Jiang Lihua, Gao Feng, Mao Shanshan, Xu Jialu, Jiang Kewen
RATIONALE: Linear nevus sebaceous syndrome (LNSS) is a rare neurocutaneous syndrome, characterized by nevus sebaceous,central nervous system (CNS), ocular and skeletal abnormalities. The present study describes KRAS somatic mosaic mutation in a case of LNSS with lymphatic malformations (LMs). PATIENT CONCERNS: A 4-month-old female with a clinical diagnosis of LNSS presented with infantile spasms, mental retardation, skull dysplasia, ocular abnormalities, congenital atrial septal defect, and LMs...
November 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29381352/design-and-mechanism-of-s-3-amino-4-difluoromethylenyl-cyclopent-1-ene-1-carboxylic-acid-a-highly-potent-%C3%AE-aminobutyric-acid-aminotransferase-inactivator-for-the-treatment-of-addiction
#6
Jose I Juncosa, Kenji Takaya, Hoang V Le, Matthew J Moschitto, Pathum M Weerawarna, Romila Mascarenhas, Dali Liu, Stephen L Dewey, Richard B Silverman
γ-Aminobutyric acid (GABA) is the major inhibitory neurotransmitter in the central nervous system. Inhibition of GABA aminotransferase (GABA-AT), a pyridoxal 5'-phosphate (PLP)-dependent enzyme that degrades GABA, has been established as a possible strategy for the treatment of substance abuse. The raised GABA levels that occur as a consequence of this inhibition have been found to antagonize the rapid release of dopamine in the ventral striatum (nucleus accumbens) that follows an acute challenge by an addictive substance...
January 30, 2018: Journal of the American Chemical Society
https://www.readbyqxmd.com/read/29362620/compare-of-the-west-syndrome-with-other-syndromes-in-the-epileptic-encephalopathy-kosovo-experience
#7
Naim Zeka, Abdurrahim Gërguri, Ramush Bejiqi, Ragip Retkoceri, Armend Vuciterna
BACKGROUND: West Syndrome (WS) represents as a specific epileptic encephalopathy characterised with a unique type of attacks, called infantile spasms, severe forms of abnormalities in electroencephalographic (EEG) records as a hypsarythmias and delays in the psychomotoric development. The characteristics of the disease, mostly affecting male gender, are infantile spasms and typical findings in EEG as a hypsarythmia. Infantile spasms are a consequence of many factors in the undeveloped brain...
December 15, 2017: Open Access Macedonian Journal of Medical Sciences
https://www.readbyqxmd.com/read/29342031/adenocarcinoma-of-pigmented-ciliary-epithelium-in-a-child-with-aicardi-syndrome-and-congenital-microphthalmia-with-cyst
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
Paul G Fisher
No abstract text is available yet for this article.
November 2017: Journal of Pediatrics
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