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Outcomes following vagus nerve stimulation (VNS) improve over years after implantation in children with drug-resistant epilepsy. The added value of deep brain stimulation (DBS) instead of continued VNS optimization is unknown. In a prospective, non-blinded, randomized patient preference trial of 18 children (aged 8-17 years) who did not respond to VNS after at least 1 year, add-on DBS resulted in greater seizure reduction compared with an additional year of VNS optimization (51.9% vs. 12.3%, p = 0.047). Add-on DBS also resulted in less bothersome seizures (p = 0.03), but no change in quality of life. DBS may be considered earlier for childhood epilepsy after non-response to VNS. ANN NEUROL 2024;96:405-411.
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Estimulación Encefálica Profunda , Epilepsia Refractaria , Prioridad del Paciente , Estimulación del Nervio Vago , Humanos , Niño , Estimulación del Nervio Vago/métodos , Adolescente , Masculino , Estimulación Encefálica Profunda/métodos , Femenino , Epilepsia Refractaria/terapia , Resultado del Tratamiento , Estudios Prospectivos , Calidad de VidaRESUMEN
OBJECTIVE: KCTD7-related progressive myoclonic epilepsy (PME) is a rare autosomal-recessive disorder. This study aimed to describe the clinical details and genetic variants in a large international cohort. METHODS: Families with molecularly confirmed diagnoses of KCTD7-related PME were identified through international collaboration. Furthermore, a systematic review was done to identify previously reported cases. Salient demographic, epilepsy, treatment, genetic testing, electroencephalographic (EEG), and imaging-related variables were collected and summarized. RESULTS: Forty-two patients (36 families) were included. The median age at first seizure was 14 months (interquartile range = 11.75-22.5). Myoclonic seizures were frequently the first seizure type noted (n = 18, 43.9%). EEG and brain magnetic resonance imaging findings were variable. Many patients exhibited delayed development with subsequent progressive regression (n = 16, 38.1%). Twenty-one cases with genetic testing available (55%) had previously reported variants in KCTD7, and 17 cases (45%) had novel variants in KCTD7 gene. Six patients died in the cohort (age range = 1.5-21 years). The systematic review identified 23 eligible studies and further identified 59 previously reported cases of KCTD7-related disorders from the literature. The phenotype for the majority of the reported cases was consistent with a PME (n = 52, 88%). Other reported phenotypes in the literature included opsoclonus myoclonus ataxia syndrome (n = 2), myoclonus dystonia (n = 2), and neuronal ceroid lipofuscinosis (n = 3). Eight published cases died over time (14%, age range = 3-18 years). SIGNIFICANCE: This study cohort and systematic review consolidated the phenotypic spectrum and natural history of KCTD7-related disorders. Early onset drug-resistant epilepsy, relentless neuroregression, and severe neurological sequalae were common. Better understanding of the natural history may help future clinical trials.
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Epilepsias Mioclónicas , Epilepsias Mioclónicas Progresivas , Síndrome de Unverricht-Lundborg , Adolescente , Niño , Preescolar , Humanos , Lactante , Adulto Joven , Electroencefalografía , Epilepsias Mioclónicas/genética , Epilepsias Mioclónicas Progresivas/genética , Canales de Potasio/genética , ConvulsionesRESUMEN
Children with epilepsy commonly have comorbid neurocognitive impairments that severely affect their psychosocial well-being, education, and future career prospects. Although the provenance of these deficits is multifactorial, the effects of interictal epileptiform discharges (IEDs) and anti-seizure medications (ASMs) are thought to be particularly severe. Although certain ASMs can be leveraged to inhibit IED occurrence, it remains unclear whether epileptiform discharges or the medications themselves are most deleterious to cognition. To examine this question, 25 children undergoing invasive monitoring for refractory focal epilepsy performed one or more sessions of a cognitive flexibility task. Electrophysiological data were recorded to detect IEDs. Between repeated sessions, prescribed ASMs were either continued or titrated to <50% of the baseline dose. Hierarchical mixed-effects modeling assessed the relationship between task reaction time (RT), IED occurrence, ASM type, and dose while controlling for seizure frequency. Both presence (ß ± SE = 49.91 ± 16.55 ms, p = .003) and number of IEDs (ß ± SE = 49.84 ± 12.51 ms, p < .001) were associated with slowed task RT. Higher dose oxcarbazepine significantly reduced IED frequency (p = .009) and improved task performance (ß ± SE = -107.43 ± 39.54 ms, p = .007). These results emphasize the neurocognitive consequences of IEDs independent of seizure effects. Furthermore, we demonstrate that inhibition of IEDs following treatment with select ASMs is associated with improved neurocognitive function.
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Epilepsia Refractaria , Epilepsias Parciales , Epilepsia , Niño , Humanos , Electroencefalografía/métodos , Epilepsia/complicaciones , Epilepsia/tratamiento farmacológico , Epilepsias Parciales/complicaciones , Epilepsias Parciales/tratamiento farmacológico , Cognición/fisiología , Epilepsia Refractaria/complicacionesRESUMEN
PURPOSE: Antenatal detection of limb anomalies is not uncommon, and pregnancies are usually terminated in view of the expected physical handicap. The aim of this retrospective observational study is to delineate the spectrum of fetal limb anomalies and provide evidence in support of complete postnatal evaluation in establishing recurrence risk. METHODS: We present 54 cases of limb malformations detected antenatally and discuss the spectrum of abnormalities, the utility of fetal autopsy, and genetic testing to establish recurrence risk in subsequent pregnancies. RESULTS: 16/54 cases were isolated radial ray anomalies. There were five cases of amniotic band syndrome, five limb body wall complex cases, three VACTERL (vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities) associations, one case of sirenomelia, two cases of limb pelvis hypoplasia, and one case of OEIS (Omphalocele Exstrophy Imperforate anus and spinal defects). Four fetuses with non-isolated radial ray anomaly had trisomy 18. One case with bilateral radial ray defect had a mutation in the FANC-E gene confirming fanconi anemia. Twelve cases were unclassified. CONCLUSION: Autopsy is the most important investigation in fetuses with limb anomalies. We suggest chromosomal microarray (CMA) as a first-tier test after autopsy. However, in cases of bilaterally symmetrical limb anomalies, in case of previous similarly affected child, or history of consanguinity, whole exome sequencing (WES) can be offered as the primary investigation, followed by CMA if WES is normal.
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Cardiopatías Congénitas , Deformidades Congénitas de las Extremidades , Fístula Traqueoesofágica , Femenino , Humanos , Embarazo , Feto/diagnóstico por imagen , Cardiopatías Congénitas/diagnóstico por imagen , Cardiopatías Congénitas/genética , Riñón/anomalías , Deformidades Congénitas de las Extremidades/diagnóstico por imagen , Deformidades Congénitas de las Extremidades/genética , Tráquea/anomalías , Fístula Traqueoesofágica/diagnóstico por imagen , Fístula Traqueoesofágica/genética , Diagnóstico PrenatalRESUMEN
OBJECTIVE: The theory of transient cognitive impairment in epilepsy posits that lapses in attention result from ephemeral disruption of attentional circuitry by interictal events. Eye movements are intimately associated with human attention and can be monitored in real time using eye-tracking technologies. Here, we sought to characterize the associations between interictal epileptiform discharges (IEDs), gaze, and attentional behavior in children with epilepsy. METHODS: Eleven consecutive children undergoing invasive monitoring with stereotactic electrodes for localization-related epilepsy performed an attentional set-shifting task while tandem intracranial electroencephalographic signals and eye-tracking data were recorded. Using an established algorithm, IEDs were detected across all intracranial electrodes on a trial-by-trial basis. Hierarchical mixed-effects modeling was performed to delineate associations between trial reaction time (RT), eye movements, and IEDs. RESULTS: Hierarchical mixed-effects modeling revealed that both the presence of an IED (ß ± SE = 72.74 ± 24.21 ms, p = .003) and the frequency of epileptiform events (ß ± SE = 67.54 ± 17.30 ms, p < .001) were associated with prolonged RT on the attentional set-shifting task. IED occurrence at the time of stimulus presentation was associated with delays in gaze initiation toward the visual targets (p = .017). SIGNIFICANCE: The occurrence of epileptiform activity in close temporal association with stimulus presentation is associated with delays in target-directed gaze and prolonged response time, hallmarks of momentary lapses in attention. These findings provide novel insights into the mechanisms of transient impairments in children and support the use of visual tracking as a correlate of higher order attentional behavior.
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Epilepsias Parciales , Epilepsia , Atención , Niño , Electroencefalografía , Epilepsias Parciales/complicaciones , Epilepsia/complicaciones , Epilepsia/cirugía , Movimientos Oculares , HumanosRESUMEN
OBJECTIVE: Working memory deficits are prevalent in childhood epilepsy. Working memory processing is thought to be supported by the phase of hippocampal neural oscillations. Disruptions in working memory have previously been linked to the occurrence of transient epileptic activity. This study aimed to resolve the associations between oscillatory neural activity, transient epileptiform events, and working memory in children with epilepsy. METHODS: Intracranial recordings were acquired from stereotactically implanted electrodes in the hippocampi, epileptogenic zones, and working memory-related networks of children with drug-resistant epilepsy during a 1-back working memory task. Interictal epileptic activity was captured using automated detectors. Hippocampal phase and interregional connectivity within working memory networks were indexed by Rayleigh Z and the phase difference derivative, respectively. Trials with and without transient epileptiform events were compared. RESULTS: Twelve children (mean age = 14.3 ± 2.8 years) with drug-resistant epilepsy were included in the study. In the absence of transient epileptic activity, significant delta and theta hippocampal phase resetting occurred in response to working memory stimulus presentation (Rayleigh z-score = 9, Rayleigh z-score = 8). Retrieval trials that were in phase with the preferred phase angle were associated with faster reaction times (p = .01, p = .03). Concurrently, delta and theta coordinated interactions between the hippocampi and working memory-related networks were enhanced (phase difference derivative [PDD] z-scores = 6-11). During retrieval trials with pre-encoding or pre-retrieval transient epileptic activity, phase resetting was attenuated (Rayleigh z-score = 5, Rayleigh z-score = 1), interregional connectivity was altered (PDD z-scores = 1-3), and reaction times were prolonged (p = .01, p = .03). SIGNIFICANCE: This work highlights the role of hippocampal phase in working memory. We observe poststimulus hippocampal phase resetting coincident with enhanced interregional connectivity. The precision of hippocampal phase predicts optimal working memory processing, and transient epileptic activity prolongs working memory processing. These findings can help guide future treatments aimed at restoring memory function in this patient population.
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Epilepsia Refractaria , Epilepsia , Adolescente , Niño , Hipocampo , Humanos , Trastornos de la Memoria/etiología , Memoria a Corto PlazoRESUMEN
In the present work, fluorescence anisotropy studies of BODIPY (pyrromethene 546 or C14H17BF2N2) dye have been performed and found that it has a potential to be used as a thermal probe to measure the temperature of microfluid. It is well-known that a dye rotates in its excited state, so to control the molecular rotation of the dye in the excited state, sorbitol is used in the solution. It has been found that adding sorbitol, fluorescence anisotropy increases, fluorescence lifetime decreases. It has been found that adding sorbitol, temperature sensitivity increases. To study the effect of -CH2 groups on fluorescence properties, another BODIPY (pyrromethene 597 or C22H33BF2N2) dye is also used, as C14H17BF2N2 and C22H33BF2N2 have similar structures with a difference of only -8CH2 groups. It has been found that C22H33BF2N2 has superior properties over C14H17BF2N2, i.e., pyrromethene 597 shows larger temperature sensitivity as compared to pyrromethene 546, even without the addition of sorbitol.
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AIM: We performed a systematic review and network meta-analysis (NMA) to obtain comparative effectiveness estimates and rankings of non-surgical interventions used to treat infantile spasms. METHOD: All randomized controlled trials (RCTs) including children 2 months to 3 years of age with infantile spasms (with hypsarrhythmia or hypsarrhythmia variants on electroencephalography) receiving appropriate first-line medical treatment were included. Electroclinical and clinical remissions within 1 month of starting treatment were analyzed. RESULTS: Twenty-two RCTs comparing first-line treatments for infantile spasms were reviewed; of these, 17 were included in the NMA. Both frequentist and Bayesian network rankings for electroclinical remission showed that high dose adrenocorticotropic hormone (ACTH), methylprednisolone, low dose ACTH and magnesium sulfate (MgSO4 ) combination, low dose ACTH, and high dose prednisolone were most likely to be the 'best' interventions, although these were not significantly different from each other. For clinical remission, low dose ACTH/MgSO4 combination, high dose ACTH (with/without vitamin B6 ), high dose prednisolone, and low dose ACTH were 'best'. INTERPRETATION: Treatments including ACTH and high dose prednisolone are more effective in achieving electroclinical and clinical remissions for infantile spasms. WHAT THIS PAPER ADDS: Adrenocorticotropic hormone and high dose prednisolone are more effective than other medications for infantile spasms. Symptomatic etiology decreases the likelihood of remission even after adjusting for treatment lag.
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Espasmos Infantiles , Hormona Adrenocorticotrópica/uso terapéutico , Anticonvulsivantes/uso terapéutico , Niño , Humanos , Lactante , Sulfato de Magnesio/uso terapéutico , Metilprednisolona/uso terapéutico , Metaanálisis en Red , Espasmos Infantiles/tratamiento farmacológico , Resultado del Tratamiento , Vitaminas/uso terapéuticoRESUMEN
The neural mechanisms that underlie selective attention in children are poorly understood. By administering a set-shifting task to children with intracranial electrodes stereotactically implanted within anterior cingulate cortex (ACC) for epilepsy monitoring, we demonstrate that selective attention in a set-shifting task is dependent upon theta-band phase resetting immediately following stimulus onset and that the preferred theta phase angle is predictive of reaction time during attentional shift. We also observe selective enhancement of oscillatory coupling between the ACC and the dorsal attention network and decoupling with the default mode network during task performance. When transient focal epileptic activity occurs around the time of stimulus onset, phase resetting is impaired, connectivity changes with attentional and default mode networks are abolished, and reaction times are prolonged. The results of the present work highlight the fundamental mechanistic role of oscillatory phase in ACC in supporting attentional circuitry and present novel opportunities to remediate attention deficits in children with epilepsy.
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Trastorno por Déficit de Atención con Hiperactividad , Epilepsia , Niño , Giro del Cíngulo , Humanos , Imagen por Resonancia MagnéticaRESUMEN
OBJECTIVES: This research aimed to study the short-term seizure outcomes following treatment with 8 mg/kg/day prednisolone in children with infantile spasms (IS) refractory to vigabatrin. We hypothesized that high-dose prednisolone may result in similar rates of electroclinical remission when compared to published ACTH rates. METHODS: All consecutive children with hypsarrhythmia or hypsarrhythmia variant on EEG with/without IS, who had been treated with vigabatrin as first-line anti-seizure medication (ASM) followed by high-dose oral prednisolone (8 mg/kg/day; maximum 60 mg/day) in cases who did not respond to vigabatrin, were included. Clinical and electroclinical response (ECR) at 2 weeks following initiation of treatment and adverse effects were assessed. RESULTS: Sixty-five children were included. A genetic etiology was seen in 38.5% cases. Complete ECR was seen in 30.8% (20/65) of the patients 2 weeks after vigabatrin. Complete ECR was noted in 77.8% (35/45) of the patients, 2 weeks after prednisolone initiation in children who failed vigabatrin, and this was sustained at 6 weeks in 66.7% (30/45) patients. Prednisolone was generally well tolerated. CONCLUSIONS: High-dose (8 mg/kg/day) oral prednisolone resulted in sustained complete ECR (at 6 weeks) in two-thirds of the children with hypsarrhythmia or hypsarrhythmia variant on EEG with/without parentally reported IS. It was generally well tolerated and found to be safe.
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Espasmos Infantiles , Vigabatrin , Anticonvulsivantes/uso terapéutico , Niño , Humanos , Lactante , Prednisolona/efectos adversos , Prednisolona/uso terapéutico , Espasmos Infantiles/tratamiento farmacológico , Resultado del Tratamiento , Vigabatrin/uso terapéuticoRESUMEN
Jain P. Noninvasive Ventilation by Helmet vs Face Mask in COVID-19 Pneumonia: Emerging Evidence and Need of the Hour. Indian J Crit Care Med 2022;26(3):256-258.
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Decelerated resting cortical oscillations, high-frequency activity, and enhanced cross-frequency interactions are features of focal epilepsy. The association between electrophysiological signal properties and neurocognitive function, particularly following resective surgery, is, however, unclear. In the current report, we studied intraoperative recordings from intracranial electrodes implanted in seven children with focal epilepsy and analyzed the spectral dynamics both before and after surgical resection of the hypothesized seizure focus. The associations between electrophysiological spectral signatures and each child's neurocognitive profiles were characterized using a partial least squares analysis. We find that extent of spectral alteration at the periphery of surgical resection, as indexed by slowed resting frequency and its acceleration following surgery, is associated with baseline cognitive deficits in children. The current report provides evidence supporting the relationship between altered spectral properties in focal epilepsy and neuropsychological deficits in children. In particular, these findings suggest a critical role of disrupted thalamocortical rhythms, which are believed to underlie the spectral alterations we describe, in both epileptogenicity and neurocognitive function.NEW & NOTEWORTHY Spectral alterations marked by decelerated resting oscillations and ectopic high-frequency activity have been noted in focal epilepsy. We leveraged intraoperative recordings from chronically implanted electrodes pre- and postresection to understand the association between these electrophysiological phenomena and neuropsychological function. We find that the extent of spectral alteration, indexed by slowed resting frequency and its acceleration following resection, is associated with baseline cognitive deficits. These findings provide novel insights into neurocognitive impairments in focal epilepsy.
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Ondas Encefálicas/fisiología , Disfunción Cognitiva/fisiopatología , Electrocorticografía , Epilepsias Parciales/fisiopatología , Epilepsias Parciales/cirugía , Monitorización Neurofisiológica Intraoperatoria , Biomarcadores , Niño , Disfunción Cognitiva/etiología , Epilepsias Parciales/complicaciones , Humanos , Procedimientos Neuroquirúrgicos , Resultado del TratamientoRESUMEN
OBJECTIVE: Through international collaboration, we evaluated the phenotypic aspects of a multiethnic cohort of KCNT1-related epilepsy and explored genotype-phenotype correlations associated with frequently encountered variants. METHODS: A cross-sectional analysis of children harboring pathogenic or likely pathogenic KCNT1 variants was completed. Children with one of the two more common recurrent KCNT1 variants were compared with the rest of the cohort for the presence of particular characteristics. RESULTS: Twenty-seven children (15 males, mean age = 40.8 months) were included. Seizure onset ranged from 1 day to 6 months, and half (48.1%) exhibited developmental plateauing upon onset. Two-thirds had epilepsy of infancy with migrating focal seizures (EIMFS), and focal tonic seizures were common (48.1%). The most frequent recurrent KCNT1 variants were c.2800G>A; p.Ala934Thr (n = 5) and c.862G>A; p.Gly288Ser (n = 4). De novo variants were found in 96% of tested parents (23/24). Sixty percent had abnormal magnetic resonance imaging (MRI) findings. Delayed myelination, thin corpus callosum, and brain atrophy were the most common. One child had gray-white matter interface indistinctness, suggesting a malformation of cortical development. Several antiepileptic drugs (mean = 7.4/patient) were tried, with no consistent response to any one agent. Eleven tried quinidine; 45% had marked (>50% seizure reduction) or some improvement (25%-50% seizure reduction). Seven used cannabidiol; 71% experienced marked or some improvement. Fourteen tried diet therapies; 57% had marked or some improvement. When comparing the recurrent variants to the rest of the cohort with respect to developmental trajectory, presence of EIMFS, >500 seizures/mo, abnormal MRI, and treatment response, there were no statistically significant differences. Four patients died (15%), none of sudden unexpected death in epilepsy. SIGNIFICANCE: Our cohort reinforces common aspects of this highly pleiotropic entity. EIMFS manifesting with refractory tonic seizures was the most common. Cannabidiol, diet therapy, and quinidine seem to offer the best chances of seizure reduction, although evidence-based practice is still unavailable.
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Epilepsias Parciales/genética , Epilepsias Parciales/patología , Epilepsias Parciales/terapia , Proteínas del Tejido Nervioso/genética , Canales de potasio activados por Sodio/genética , Anticonvulsivantes/uso terapéutico , Preescolar , Estudios de Cohortes , Estudios Transversales , Dieta Cetogénica , Epilepsia Refractaria/genética , Epilepsia Refractaria/patología , Epilepsia Refractaria/terapia , Femenino , Estudios de Asociación Genética , Humanos , Masculino , Quinidina , Estudios RetrospectivosRESUMEN
AIM: To determine whether epilepsy surgery improved health-related quality of life (HRQoL) and whether seizure freedom after surgery mediated the improvement in HRQoL. METHOD: This multicenter cohort study compared HRQoL after epilepsy surgery to pharmacological management in children with drug-resistant epilepsy (DRE). HRQoL was measured using the Quality of Life in Childhood Epilepsy (QOLCE) questionnaire at baseline and 1-year follow-up. The mediator between treatment type and HRQoL was seizure freedom. RESULTS: Two hundred and thirty-seven patients were recruited (surgery group: n=147 [92 males, 45 females]; pharmacological group: n=90 [53 males, 37 females]). Mean age at seizure onset was 6 years (SD 4y 4mo) in the surgical group and 6 years 1 month (SD 4y) in the pharmacological group. The odds ratio of seizure freedom was higher for the surgery versus pharmacological group (ß=4.24 [95% confidence interval {CI}: 2.26-7.93], p<0.001). Surgery had no direct effect on total QOLCE score at 1-year (ß=0.24 [95% CI -2.04 to 2.51], p=0.839) compared to pharmacological management, but had an indirect effect on total QOLCE that was mediated by seizure freedom (ß=0.92 [95% CI 0.19-1.65], p=0.013), adjusting for baseline total QOLCE score. Surgery had a direct effect on improving social function (p=0.043), and an indirect effect on improving physical function (p=0.016), cognition (p=0.042), social function (p=0.012) and behavior (p=0.032), mediated by seizure freedom. INTERPRETATION: Greater seizure freedom achieved through epilepsy surgery mediated the improvement in HRQoL compared to pharmacological management in children with DRE. WHAT THIS PAPER ADDS: Seizure freedom is higher after pediatric epilepsy surgery compared to pharmacologically managed epilepsy. Surgery indirectly improves health-related quality of life (HRQoL) mediated by seizure freedom compared to pharmacological management. Surgery has a direct effect on improving social function relative to pharmacological management. Baseline HRQoL was an important predictor of HRQoL after treatment.
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Epilepsia Refractaria/psicología , Epilepsia Refractaria/cirugía , Calidad de Vida , Anticonvulsivantes/uso terapéutico , Niño , Epilepsia Refractaria/tratamiento farmacológico , Femenino , Humanos , Masculino , Estudios Prospectivos , Resultado del TratamientoAsunto(s)
Epilepsia Generalizada , Epilepsia , Trastornos Mentales , Humanos , Niño , Memantina , Estudios CruzadosRESUMEN
A 16-year-old boy with learning disability presented with nocturnal pharmaco-resistant focal seizures consisting of right arm/axilla pain, sometimes followed by tonic-clonic movements of right arm/leg since 8 years of age. He was on valproate and levetiracetam and had failed multiple drugs in the past. Family history and examination were unremarkable.
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Encéfalo/fisiopatología , Convulsiones/fisiopatología , Adolescente , Electroencefalografía , Humanos , Magnetoencefalografía , MasculinoRESUMEN
Multiple genes/variants have been implicated in various epileptic conditions. However, there is little general guidance available on the circumstances in which genetic testing is indicated and test selection in order to guide optimal test appropriateness and benefit. This is an account of the development of guidelines for genetic testing in epilepsy, which have been developed in Ontario, Canada. The Genetic Testing Advisory Committee was established in Ontario to review the clinical utility and validity of genetic tests and the provision of genetic testing in Ontario. As part of their mandate, the committee also developed recommendations and guidelines for genetic testing in epilepsy. The recommendations include mandatory prerequisites for an epileptology/geneticist/clinical biochemical geneticist consultation, prerequisite diagnostic procedures, circumstances in which genetic testing is indicated and not indicated and guidance for selection of genetic tests, including their general limitations and considerations. These guidelines represent a step toward the development of evidence-based gene panels for epilepsy in Ontario, the repatriation of genetic testing for epilepsy into Ontario molecular genetic laboratories and public funding of genetic tests for epilepsy in Ontario.
Élaborer des critères en vue du dépistage génétique de l'épilepsie en Ontario (Canada). De multiples gènes et variations génétiques sont responsables de la variété des conditions épileptiques existantes. Cependant, très peu de lignes directrices permettent de déterminer les situations en vertu desquelles le dépistage génétique est indiqué et de choisir des tests qui soient appropriés et bénéfiques. Dans le cas de l'Ontario (Canada), nous voulons nous pencher sur l'élaboration de lignes directrices en matière de dépistage génétique de l'épilepsie. Ainsi, un Comité consultatif de dépistage génétique a été établi dans cette province afin d'examiner la pertinence clinique et la validité de tests génétiques de même que leur prestation. Dans le cadre de son mandat, le Comité a également formulé des recommandations se rapportant au dépistage génétique de l'épilepsie. Parmi ces recommandations, il a inclus le fait de consulter obligatoirement, avant tout test, un épileptologue, un généticien ou un généticien biochimique clinique. Il a aussi recommandé aux professionnels de la santé d'établir des procédures diagnostiques préalables et de déterminer les circonstances en fonction desquelles le dépistage génétique est indiqué ou non. Enfin, il a fourni des indications en ce qui regarde la sélection des tests génétiques, notamment leurs restrictions et d'autres considérations générales. En ce qui concerne l'Ontario, l'ensemble de ces lignes directrices représente un pas vers la constitution de panels de séquençage génétique basés sur des données probantes mais aussi vers le rapatriement du dépistage de l'épilepsie dans des laboratoires ontariens de génétique moléculaire et le financement public de tests génétiques pour cette maladie.
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Epilepsia/diagnóstico , Epilepsia/genética , Predisposición Genética a la Enfermedad , Pruebas Genéticas/métodos , Pruebas Genéticas/normas , Epilepsia/epidemiología , Guías como Asunto/normas , Humanos , Ontario/epidemiologíaRESUMEN
BACKGROUND: The safety of hemispherectomy between staged cardiac procedures is unknown and not previously reported. METHOD: Retrospective review of a case with drug-resistant epilepsy due to stroke following bidirectional cavopulmonary connection (BDCPC). RESULTS: This report describes the first case of a successful pediatric peri-insular functional hemispherectomy in the setting of a BDCPC. A discussion of the complex preoperative planning from both a cardiac and neurological perspective is presented. Considerations regarding hemispherectomy and its effects on the cardiac physiology, and perioperative considerations are emphasized in clinical decision making. CONCLUSIONS: A multidisciplinary approach was critical in this child which led to a successful outcome.
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Epilepsia Refractaria/cirugía , Cardiopatías Congénitas/complicaciones , Hemisferectomía/efectos adversos , Accidente Cerebrovascular/complicaciones , Epilepsia Refractaria/complicaciones , Humanos , Lactante , Masculino , Procedimientos Neuroquirúrgicos , Resultado del TratamientoRESUMEN
Injection vincristine is an important component of therapy for acute lymphoblastic leukemia (ALL). An important adverse effect of vincristine is neurotoxicity. The incidence of this adverse effect is well studied. The present was undertaken to determine the incidence of vincristine-induced neurotoxicity in children with ALL after the induction of remission phase of chemotherapy and to ascertain its correlation with undernutrition, vitamin B12, folate and iron deficiency. Thirty children (1-18 years) with ALL were enrolled at the commencement of chemotherapy. The electrophysiological evaluation was done at baseline and repeated after four doses of vincristine (1.5 mg/m2/dose). Clinical evaluation was done regularly. Anthropometry and serum B12, folate and ferritin levels were assessed at baseline. Twelve children over a 4-week period of observation had peripheral neuropathy clinically. The autonomic system was most commonly involved followed by motor and sensory system respectively. On electrophysiological testing, half of the patients had evidence of neuropathy. Micronutrient deficiencies were present in a significant number of patients-63.3% had a B12 deficiency, 20% were deficient in folate and 43.3% in iron. The incidence of vincristine-induced neuropathy in patients with/without these micro-nutrient deficiencies was not statistically significantly different. Vincristine-induced neuropathy is common in Indian children with ALL. The present study did not find any correlation between the occurrences of vincristine-induced neuropathy and nutritional deficiencies. Larger studies are warranted to evaluate the contribution of micronutrient deficiencies to the development of peripheral neuropathy in childhood ALL.
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Antineoplásicos Fitogénicos/efectos adversos , Desnutrición/complicaciones , Síndromes de Neurotoxicidad/etiología , Leucemia-Linfoma Linfoblástico de Células Precursoras/complicaciones , Vincristina/efectos adversos , Adolescente , Niño , Preescolar , Femenino , Humanos , Incidencia , Lactante , Masculino , Leucemia-Linfoma Linfoblástico de Células Precursoras/tratamiento farmacológico , Estudios ProspectivosRESUMEN
OBJECTIVE: To evaluate the effectiveness of anterior temporal lobectomy (ATL) versus selective amygdalohippocampectomy (SAH) on seizure-free outcome in patients with temporal lobe epilepsy, using both direct and indirect evidence from the literature. METHODS: MEDLINE, Embase and Cochrane databases were searched for original research articles and systematic reviews comparing ATL versus SAH, and ATL or SAH versus medical management (MM). The outcome was seizure freedom at 12 months of follow-up or longer. Direct pairwise meta-analyses were conducted, followed by a random-effect Bayesian network meta-analysis (NMA) combining direct and indirect evidence. RESULTS: Twenty-eight articles were included (18 compared ATL vs SAH, 1 compared ATL vs SAH vs MM, 8 compared ATL vs MM, and 1 compared SAH vs MM). Direct pairwise meta-analyses showed no significant differences in seizure-free outcome of ATL versus SAH (OR 1.14, 95% CI 0.93 to 1.39; p=0.201), but the odds of seizure-free outcome were higher for ATL versus MM (OR 29.16, 95% CI 10.44 to 81.50; p<0.00001), and SAH versus MM (OR 28.42, 95% CI 10.17 to 79.39; p<0.00001). NMA also showed that the odds of seizure-free outcome were no different in ATL versus SAH (OR 1.15, 95% credible interval (CrI) 0.84-1.15), but higher for ATL versus MM (OR 27.22, 95% CrI 15.38-27.22), and SAH versus MM (OR 23.57, 95% CrI 12.67-23.57). There were no significant differences between direct and indirect comparisons (all p>0.05). CONCLUSION: Direct evidence, indirect evidence and NMA did not identify a difference in seizure-free outcome of ATL versus SAH.