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1.
Pediatr Neurol ; 151: 5-16, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-38041905

RESUMO

Management of pediatric epilepsies poses unique challenges around diagnosis, treatment options, comorbidities, and the potential for these factors to interact with processes in the developing brain. In pediatric patients, broad-spectrum antiseizure medications (ASMs) with minimal potential for adverse events (AEs) and limited impact on cognition and behavior are preferred. Perampanel is a first-in-class ASM with broad-spectrum efficacy, a tolerable safety profile, minimal negative impact on cognitive function, and other features that make it a viable treatment option in this patient population. However, evidence and experience of its use in pediatric patients are less extensive than in adult patients. Experts in pediatric epilepsy across the region convened at a series of meetings to discuss the use of perampanel in pediatric patients, including dose optimization, AE prevention and management, and considerations in particular groups. This article summarizes key evidence for perampanel in the pediatric population and consolidates the experts' recommendations for using the ASM in managing pediatric epilepsies.


Assuntos
Epilepsias Parciais , Epilepsia , Nitrilas , Piridonas , Adulto , Humanos , Criança , Epilepsias Parciais/tratamento farmacológico , Anticonvulsivantes/efeitos adversos , Prova Pericial , Resultado do Tratamento , Epilepsia/tratamento farmacológico , Ásia
2.
Orphanet J Rare Dis ; 18(1): 43, 2023 03 02.
Artigo em Inglês | MEDLINE | ID: mdl-36859275

RESUMO

OBJECTIVE: To determine the prevalence of mitochondrial diseases (MD) in Hong Kong (HK) and to evaluate the clinical characteristics and genetic landscape of MD patients in the region. METHODS: This study retrospectively reviewed the phenotypic and molecular characteristics of MD patients from participating public hospitals in HK between January 1985 to October 2020. Molecularly and/or enzymatically confirmed MD cases of any age were recruited via the Clinical Analysis and Reporting System (CDARS) using relevant keywords and/or International Classification of Disease (ICD) codes under the HK Hospital Authority or through the personal recollection of treating clinicians among the investigators. RESULTS: A total of 119 MD patients were recruited and analyzed in the study. The point prevalence of MD in HK was 1.02 in 100,000 people (95% confidence interval 0.81-1.28 in 100,000). 110 patients had molecularly proven MD and the other nine were diagnosed by OXPHOS enzymology analysis or mitochondrial DNA depletion analysis with unknown molecular basis. Pathogenic variants in the mitochondrial genome (72 patients) were more prevalent than those in the nuclear genome (38 patients) in our cohort. The most commonly involved organ system at disease onset was the neurological system, in which developmental delay, seizures or epilepsy, and stroke-like episodes were the most frequently reported presentations. The mortality rate in our cohort was 37%. CONCLUSION: This study is a territory-wide overview of the clinical and genetic characteristics of MD patients in a Chinese population, providing the first available prevalence rate of MD in Hong Kong. The findings of this study aim to facilitate future in-depth evaluation of MD and lay the foundation to establish a local MD registry.


Assuntos
Povo Asiático , Doenças Mitocondriais , Humanos , Hong Kong , Prevalência , Estudos Retrospectivos
3.
Orphanet J Rare Dis ; 16(1): 32, 2021 01 15.
Artigo em Inglês | MEDLINE | ID: mdl-33446253

RESUMO

BACKGROUND: Movement disorders are a group of heterogeneous neurological diseases including hyperkinetic disorders with unwanted excess movements and hypokinetic disorders with reduction in the degree of movements. The objective of our study is to investigate the genetic etiology of a cohort of paediatric patients with movement disorders by whole exome sequencing and to review the potential treatment implications after a genetic diagnosis. RESULTS: We studied a cohort of 31 patients who have paediatric-onset movement disorders with unrevealing etiologies. Whole exome sequencing was performed and rare variants were interrogated for pathogenicity. Genetic diagnoses have been confirmed in 10 patients with disease-causing variants in CTNNB1, SPAST, ATP1A3, PURA, SLC2A1, KMT2B, ACTB, GNAO1 and SPG11. 80% (8/10) of patients with genetic diagnosis have potential treatment implications and treatments have been offered to them. One patient with KMT2B dystonia showed clinical improvement with decrease in dystonia after receiving globus pallidus interna deep brain stimulation. CONCLUSIONS: A diagnostic yield of 32% (10/31) was reported in our cohort and this allows a better prediction of prognosis and contributes to a more effective clinical management. The study highlights the potential of implementing precision medicine in the patients.


Assuntos
Distúrbios Distônicos , Transtornos dos Movimentos , Criança , Distúrbios Distônicos/genética , Exoma/genética , Subunidades alfa Gi-Go de Proteínas de Ligação ao GTP , Humanos , Transtornos dos Movimentos/genética , Mutação/genética , Proteínas , ATPase Trocadora de Sódio-Potássio/genética , Espastina , Sequenciamento do Exoma
4.
BMC Med Genet ; 19(1): 162, 2018 09 12.
Artigo em Inglês | MEDLINE | ID: mdl-30208878

RESUMO

BACKGROUND: Mucolipidosis alpha/beta is an inborn error of metabolism characterized by deficiency of GlcNAc-1-phosphotransferase, in which essential alpha/beta subunits are encoded by the GNPTAB gene. The autosomal recessive condition is due to disruptions of hydrolase mannose 6-phosphate marker generation, defective lysosomal targeting and subsequent intracellular accumulation of non-degraded material. Clinical severity depends on residual GlcNAc-1-phosphotransferase activity, which distinguishes between the milder type III disease and the severe, neonatal onset type II disease. CASE PRESENTATION: We report the clinical, biochemical and genetic diagnosis of mucolipidosis III alpha/beta in a two-year-old Chinese boy who initially presented with poor weight gain, microcephaly and increased tone. He was confirmed to harbor the common splice site mutation c.2715 + 1G > A and the nonsense variant c.2404C > T (p.Q802*). Clinically, the patient had multiple phenotypic features typical of mucopolysaccharidosis including joint contractures, coarse facial features, kypho-lordosis, pectus carinatum and umbilical hernia. However, the relatively mild developmental delay compared to severe type I and type II mucopolysaccharidosis and the absence of macrocephaly raised the possibility of the less commonly diagnosed mucolipidosis alpha/beta. Critical roles of lysosomal enzyme activity assay, which showed elevated α-iduronidase, iduronate sulfatase, galactose-6-sulphate sulphatase, arylsulfatase B and α-hexosaminidase activities; and genetic study, which confirmed the parental origin of both mutations, were highlighted. CONCLUSIONS: The recently reported nonsense variant c.2404C > T in the GNPTAB gene is further recognized and this contributes to the genotype-phenotype spectrum of mucolipidosis alpha/beta.


Assuntos
Códon sem Sentido , Mucolipidoses/genética , Transferases (Outros Grupos de Fosfato Substituídos)/genética , Pré-Escolar , Condroitina Sulfatases/genética , Condroitina Sulfatases/metabolismo , Regulação da Expressão Gênica , Genes Recessivos , Humanos , Iduronato Sulfatase/genética , Iduronato Sulfatase/metabolismo , Iduronidase/genética , Iduronidase/metabolismo , Lisossomos/enzimologia , Lisossomos/patologia , Masculino , Mucolipidoses/diagnóstico , Mucolipidoses/enzimologia , Mucolipidoses/patologia , N-Acetilgalactosamina-4-Sulfatase/genética , N-Acetilgalactosamina-4-Sulfatase/metabolismo , Linhagem , Transferases (Outros Grupos de Fosfato Substituídos)/deficiência , Cadeia alfa da beta-Hexosaminidase/genética , Cadeia alfa da beta-Hexosaminidase/metabolismo
5.
Pediatr Neurol ; 34(1): 63-5, 2006 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-16376283

RESUMO

This report describes the management of three children, ranging in age from 7 to 9 years, who had refractory status epilepticus. This condition was likely the result of viral encephalitis; it manifested initially as generalized tonic-clonic seizure and later frequent subtle eye staring and twitching of mouth or limbs as well as tachycardia and dilatation of pupils. The seizures were not responsive to treatment with conventional doses of intravenous phenobarbital, phenytoin, and midazolam infusion. Very-high-dose phenobarbital was administered at accumulated daily doses up to 80 mg/kg, with a resulting serum level of more than 1000 mumol/L. It was effective in achieving seizure control, with milder adverse effects compared with thiopental infusion.


Assuntos
Anticonvulsivantes/administração & dosagem , Fenobarbital/administração & dosagem , Estado Epiléptico/tratamento farmacológico , Criança , Relação Dose-Resposta a Droga , Quimioterapia Combinada , Eletroencefalografia , Humanos , Masculino , Estado Epiléptico/fisiopatologia
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