23 research outputs found
Research conference summary from the 2014 International Task Force on
OBJECTIVE:
METHODS: In 2014, the Alternating Hemiplegia of Childhood Foundation hosted a multidisciplinary workshop intended to address fundamental challenges surrounding the diagnosis and management of individuals with
RESULTS: Workshop attendees were charged with the following: (1) to achieve consensus on expanded diagnostic criteria to facilitate the identification of additional patients, intended to supplement existing syndrome-specific diagnostic paradigms; (2) to standardize definitions for the broad range of paroxysmal manifestations associated with AHC to disseminate to families; (3) to create clinical recommendations for common recurrent issues facing families and medical care providers; (4) to review data related to the death of individuals in the Alternating Hemiplegia of Childhood Foundation database to guide future efforts in identifying at-risk subjects and potential preventative measures; and (5) to identify critical gaps where we most need to focus national and international research efforts.
CONCLUSIONS: This report summarizes recommendations of the workshop committee, highlighting the key phenotypic features to facilitate the diagnosis of possibl
Specialist laboratory networks as preparedness and response tool - The emerging viral diseases-expert laboratory network and the chikungunya outbreak, Thailand, 2019
We illustrate the potential for specialist laboratory networks to be used as preparedness and response tool through rapid collection and sharing of data. Here, the Emerging Viral Diseases-Expert Laboratory Network (EVD-LabNet) and a laboratory assessment of chikungunya virus (CHIKV) in returning European travellers related to an ongoing outbreak in Thailand was used for this purpose. EVD-LabNet rapidly collected data on laboratory requests, diagnosed CHIKV imported cases and sequences generated, and shared among its members and with the European Centre for Disease Prevention and Control. Data across the network showed an increase in CHIKV imported cases during 1 October 2018-30 April 2019 vs the same period in 2018 (172 vs 50), particularly an increase in cases known to be related to travel to Thailand (72 vs 1). Moreover, EVD-LabNet showed that strains were imported from Thailand that cluster with strains of the ECSA-IOL E1 A226 variant emerging in Pakistan in 2016 and involved in the 2017 outbreaks in Italy. CHIKV diagnostic requests increased by 23.6% between the two periods. The impact of using EVD-LabNet or similar networks as preparedness and response tool could be improved by standardisation of the collection, quality and mining of data in routine laboratory management systems
Convulsiones neonatales
importante. Se T\uedpicamente, las convulsiones neonatales indican una afecci\uf3n subyacente han clasificado mal, reconocido menos y por lo general es dif\uedcil el pron\uf3stico y el tratamiento suele ser \ufatil identificar la causa; la m\ue1s com\ufan es la encefalopat\ueda hip\uf3xica-isqu\ue9miea. Por lo general, los pacientes tienen mal pron\uf3stico y la mayor\ueda presenta encefalopat\ueda y epilepsia graves. Los estudios sugieren que las convulsiones neonatales y sus causas tienen un efecto importante en el cerebro en desarrollo; es indispensable identificar temprano las convulsiones e iniciar de inmediato el tratamiento antiepil\ue9ptico. Es imprescindible la vigilancia videoelectroencefalogr\ue1fiea computadorizada simult\ue1nea, continua; con frecuencia, los lactantes con riesgo tendr\ue1n convulsiones electrogr\ue1ficas sin manifestaciones cl\uednicas. Aunque hay tratamientos antiepil\ue9pticos para convulsiones neonatales, en m\ue1s del 35% de los casos no son eficaces. La investigaci\uf3n debe dirigirse a la creaci\uf3n de tratamientos m\ue1s eficaces para las convulsiones neonatales, prescindiendo de la causa
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Deletion of mitochondrial DNA in patients with combined features of kearns‐sayre and MELAS syndromes
A 9‐year‐old girl and an 11‐year‐old boy had ptosis, progressive external ophthalmoplegia, pigmentary retinopathy, and sensorineural hearing loss. The girl had diabetes mellitus and the boy had hypoparathyroidism. Both children also developed recurrent vomiting and cerebral infarcts with lactic acidosis. Muscle biopsy specimens showed ragged‐red fibers and Southern analysis demonstrated a distinct heteropolasmic deletion of muscle mitochondrial DNA in each patient but no evidence of the point mutation in the transfer RNALeu(UUR) generecently identified in mitochondrial encephalomyopathy, lactic acidosis, and stroke‐like episodes (MELAS). These 2 children had combined features of Kearns‐Sayre syndrome and MELAS, suggesting that mitochondrial DNA deletions occasionally can have pleomorphic clinical expression
The impact of bilingualism on working memory in pediatric epilepsy
Impairments in executive skills broadly span across multiple childhood epilepsy syndromes and can adversely affect quality of life. Bilingualism has been previously shown to correlate with enhanced executive functioning in healthy individuals. This study sought to determine whether the bilingual advantage in executive functioning exists in the context of pediatric epilepsy. We retrospectively analyzed neuropsychological data in 52 children with epilepsy and compared executive function scores in monolingual versus bilingual children with epilepsy while controlling for socioeconomic status and ethnicity. Bilingual children performed significantly better on the Working Memory Index than did monolingual children. There were no significant differences on the remaining executive function variables. The bilingual advantage appears to persist for working memory in children with epilepsy. These findings suggest that bilingualism is potentially a protective variable in the face of epilepsy-related working memory dysfunction
Indications and methodology for video-electroencephalographic studies in the epilepsy monitoring unit
Wiley Periodicals, Inc. © 2017 International League Against Epilepsy Although the epilepsy and neurology communities have position papers on a number of topics pertaining to epilepsy diagnosis and management, no current paper exists for the rationale and appropriate indications for epilepsy monitoring unit (EMU) evaluation. General neurologists, hospital administrators, and insurers also have yet to fully understand the role this type of testing has in the diagnosis and management of individuals with paroxysmal neurologic symptoms. This review outlines the indications for long-term video-electroencephalography (VEEG) for typical elective admissions to a specialized inpatient setting. The common techniques used in EMUs to obtain diagnostic information are reviewed. The added benefit of safety measures and clinical testing above that available for routine or long-term ambulatory electroencephalography is also discussed. The indications for admission to the EMU include differential diagnosis of paroxysmal spells, characterization of seizure types, presurgical epilepsy evaluations, seizure quantification, monitoring medication adjustment in a safe setting, and differentiation between seizures and side effects. We conclude that the appropriate use of this specialized testing can lead to an early and correct diagnosis in a variety of clinical circumstances. The EMU evaluation is considered the gold standard test for the definitive diagnosis of epilepsy and seizure-like spells
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Mitochondrial DNA Deletions in Progressive External Ophthalmoplegia and Kearns-Sayre Syndrome
We investigated the correlations of deletions of mitochondrial DNA in skeletal muscle with clinical manifestations of mitochondrial myopathies, a group of disorders defined either by biochemical abnormalities of mitochondria or by morphologic changes causing a ragged red appearance of the muscle fibers histochemically. We performed genomic Southern blot analysis of muscle mitochondrial DNA from 123 patients with different mitochondrial myopathies or encephalomyopathies. Deletions were found in the mitochondrial DNA of 32 patients, all of whom had progressive external ophthalmoplegia. Some patients had only ocular myopathy, whereas others had Kearns—Sayre syndrome, a multisystem disorder characterized by ophthalmoplegia, pigmentary retinopathy, heart block, and cerebellar ataxia.
The deletions ranged in size from 1.3 to 7.6 kilobases and were mapped to different sites in the mitochondrial DNA, but an identical 4.9-kilobase deletion was found in the same location in 11 patients. Biochemical analysis showed decreased activities of NADH dehydrogenase, rotenone-sensitive NADH–cytochrome c reductase, succinate–cytochrome c reductase, and cytochrome c oxidase, four enzymes of the mitochondrial respiratory chain containing subunits encoded by mitochondrial DNA.
We conclude that deletions of muscle mitochondrial DNA are associated with ophthalmoplegia and may result in impaired mitochondrial function. However, the precise relation between clinical and biochemical phenotypes and deletions remains to be defined. (N Engl J Med 1989; 320:1293–9.)
MITOCHONDRIA are unique among intracellular organelles because they contain their own DNA, which can be transcribed and translated to form proteins. Human mitochondrial DNA is a small (16.5-kilobase [kb]), circular, double-stranded molecule that contains 13 structural genes, 22 transfer RNA genes, and 2 genes encoding the 16S and 12S mitochondrial ribosomal RNAs. All 13 peptides encoded by mitochondrial DNA are components of respiratory-chain complexes, including seven subunits of Complex I (NADH–coenzyme Q oxidoreductase), one subunit of Complex III (ubiquinol–cytochrome
c
oxidoreductase), three subunits of Complex IV (cytochrome
c
oxidase), and two subunits of Complex V (ATP synthase). Because all mitochondria . .
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Research conference summary from the 2014 International Task Force on ATP1A3-Related Disorders
Objective: ATP1A3-related neurologic disorders encompass a broad range of phenotypes that extend well beyond initial phenotypic criteria associated with alternating hemiplegia of childhood (AHC) and rapid-onset dystonia parkinsonism. Methods: In 2014, the Alternating Hemiplegia of Childhood Foundation hosted a multidisciplinary workshop intended to address fundamental challenges surrounding the diagnosis and management of individuals with ATP1A3-related disorders. Results: Workshop attendees were charged with the following: (1) to achieve consensus on expanded diagnostic criteria to facilitate the identification of additional patients, intended to supplement existing syndrome-specific diagnostic paradigms; (2) to standardize definitions for the broad range of paroxysmal manifestations associated with AHC to disseminate to families; (3) to create clinical recommendations for common recurrent issues facing families and medical care providers; (4) to review data related to the death of individuals in the Alternating Hemiplegia of Childhood Foundation database to guide future efforts in identifying at-risk subjects and potential preventative measures; and (5) to identify critical gaps where we most need to focus national and international research efforts. Conclusions: This report summarizes recommendations of the workshop committee, highlighting the key phenotypic features to facilitate the diagnosis of possible ATP1A3 mutations, providing recommendations for genetic testing, and outlining initial acute management for common recurrent clinical conditions, including epilepsy
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