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1.
Genet Med ; 19(12)2017 12.
Artigo em Inglês | MEDLINE | ID: mdl-28749475

RESUMO

The purpose of this statement is to provide consensus-based recommendations for optimal management and care for patients with primary mitochondrial disease. This statement is intended for physicians who are engaged in the diagnosis and management of these patients. Working group members were appointed by the Mitochondrial Medicine Society. The panel included members with several different areas of expertise. The panel members utilized surveys and the Delphi method to reach consensus. We anticipate that this statement will need to be updated as the field continues to evolve. Consensus-based recommendations are provided for the routine care and management of patients with primary genetic mitochondrial disease.


Assuntos
Doenças Mitocondriais/diagnóstico , Doenças Mitocondriais/terapia , Padrão de Cuidado , Gerenciamento Clínico , Humanos
3.
Am J Med Genet A ; 152A(11): 2775-83, 2010 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-20949524

RESUMO

Christianson syndrome is an X-linked mental retardation syndrome characterized by microcephaly, impaired ocular movement, severe global developmental delay, hypotonia which progresses to spasticity, and early onset seizures of variable types. Gilfillan et al.2008] reported mutations in SLC9A6, the gene encoding the sodium/hydrogen exchanger NHE6, in the family first reported and in three others. They also noted the clinical similarities to Angelman syndrome and found cerebellar atrophy on MRI and elevated glutamate/glutamine in the basal ganglia on MRS. Here we report on nonsense mutations in two additional families. The natural history is detailed in childhood and adult life, the similarities to Angelman syndrome confirmed, and the MRI/MRS findings documented in three affected boys.


Assuntos
Anormalidades Múltiplas/genética , Anormalidades Múltiplas/patologia , Adulto , Criança , Pré-Escolar , Movimentos Oculares , Família , Evolução Fatal , Feminino , Humanos , Lactente , Testes de Inteligência , Imageamento por Ressonância Magnética , Masculino , Mutação/genética , Linhagem , Gravidez , Trocadores de Sódio-Hidrogênio/genética , Síndrome
4.
Neurologist ; 9(3): 160-4, 2003 May.
Artigo em Inglês | MEDLINE | ID: mdl-12808412

RESUMO

BACKGROUND: This study retrospectively compared the effectiveness of vagus nerve stimulation (VNS) therapy among a constant cohort of patients in the patient outcome registry, which systematically monitors outcomes of patients receiving VNS therapy. Patients in the study had pharmacoresistant seizures for 6 years or less (early treatment group) or more than 6 years (late treatment group) before initiation of VNS therapy, and results are provided after both 3 and 12 months. REVIEW SUMMARY: Of 405 patients, 51 were in the early and 354 in the late treatment groups. Median age at onset of seizures was 7 years in the early and 4.5 years in the late treatment group. Seizure reduction of 100% was reported in 7.8% (early) and 3.7% (late) patients at 3 months and 11.8% (early) and 4.5% (late) at 12 months (P = 0.033). Reductions in seizure frequency greater than or equal to 90% for early and late treatment groups were similar: 11.8% (early) and 11.0% (late) at 3 months and 23.5% (early) and 17.0% (late) at 12 months. CONCLUSIONS: Patients treated earlier with VNS therapy were twice as likely to report no seizures as patients who had seizures for more than 6 years before they received VNS therapy. The effectiveness of VNS therapy should be assessed among other patients with pharmacoresistant seizures and lesser cumulative seizure loads.


Assuntos
Terapia por Estimulação Elétrica/estatística & dados numéricos , Epilepsia/fisiopatologia , Epilepsia/terapia , Avaliação de Resultados em Cuidados de Saúde/estatística & dados numéricos , Sistema de Registros/estatística & dados numéricos , Nervo Vago/fisiopatologia , Adolescente , Adulto , Idoso , Anticonvulsivantes/uso terapêutico , Criança , Pré-Escolar , Estudos de Coortes , Seguimentos , Humanos , Lactente , Pessoa de Meia-Idade , Estudos Retrospectivos , Índice de Gravidade de Doença , Fatores de Tempo
5.
ISRN Neurol ; 2013: 613456, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-23936671

RESUMO

Phenytoin (PHT) has been the most widely used medication to treat both partial and generalized seizures. However, over the past twenty years, a variety of new compounds have been released with comparable efficacy, fewer adverse effects, and more predictable pharmacokinetic properties. We surveyed neurologists and epileptologists to determine current practice patterns relating to the use of PHT using an online survey instrument. A total of 200 responses were obtained though response rates for each survey question varied. Of the respondents, 78.1% were epilepsy specialists; 60% were adult practitioners; and the remainder saw either, only children or both adults and children. For new onset partial seizures only 10 respondents said PHT would be their first or second choice, while 45% reported that they would not consider PHT. This study shows that in the era of newer medications, the role of PHT has been placed in the category of a reserve medication in intractable epilepsy.

6.
Pediatr Neurol ; 46(3): 185-6, 2012 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-22353296

RESUMO

We describe a 7-year-old boy with Alice in Wonderland syndrome associated with Lyme disease. He presented with metamorphopsia and auditory hallucinations in the absence of previous tick bites or other signs of Lyme disease. The boy never developed clinical seizures, and electroencephalograms during these spells indicated no epileptic activity. There was no history of migraine. Cranial magnetic resonance imaging produced normal results. Lyme serology tested positive in both serum and cerebrospinal fluid. He was treated with intravenous ceftriaxone for 3 weeks, with complete resolution of signs. This case report is the first, to our knowledge, of neuroborreliosis presenting as Alice in Wonderland syndrome with complete resolution of findings after intravenous antibiotic treatment.


Assuntos
Borrelia burgdorferi , Alucinações/etiologia , Neuroborreliose de Lyme/complicações , Transtornos da Visão/etiologia , Antibacterianos/uso terapêutico , Ceftriaxona/uso terapêutico , Criança , Humanos , Neuroborreliose de Lyme/diagnóstico , Neuroborreliose de Lyme/tratamento farmacológico , Masculino , Resultado do Tratamento
7.
J Child Neurol ; 27(7): 885-7, 2012 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-22241714

RESUMO

This study evaluates the outcome of urgent neurologic referrals. This was a retrospective review of all referrals to the Floating Hospital for Children in 1 month. The total number of patients referred to our center was 223. Amongst those, 108 were new patients and 195 were follow-up visits; 30 patients were deemed urgent, yet 6 of them did not present to their visit. Urgent and routinely scheduled patients were compared based on the need for further evaluation or medication initiation following their visit. The frequency of visit outcomes was statistically similar between urgently and nonurgently referred patients. We did observe though, that diagnostic testing and medication were initiated more frequently for the patients urgently referred for seizure compared with those routinely scheduled patients for seizure evaluation. For this reason, we suggest that pediatric neurologists preferentially should hold clinic space open for urgent referrals for patients with new-onset seizure.


Assuntos
Tomada de Decisões , Neurologia , Encaminhamento e Consulta/estatística & dados numéricos , Convulsões/terapia , Agendamento de Consultas , Estudos de Avaliação como Assunto , Feminino , Humanos , Masculino , Projetos Piloto , Estudos Retrospectivos , Convulsões/epidemiologia
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