RESUMO
Perampanel is approved for adjunctive therapy of focal epilepsy with or without secondarily generalized seizures in patients aged >12 years. This narrative review uses real-world and clinical trial data to elucidate perampanel's role in the clinic. Audit data show good tolerability with perampanel and higher freedom-from-seizure rates in elderly vs younger patients. When using perampanel in elderly patients, special attention should be given to comorbidities and co-medication to avoid potential interactions or adverse events. Slower titration is generally recommended, and seizure control should be reassessed at a dose of 4 mg before further dose increases. Perampanel efficacy is similar in adolescents and adults; however, somnolence, nasopharyngitis, and aggression are more frequent in adolescents vs the overall population. Individualized and slow-dose titration can minimize adverse events. Low serum concentrations of perampanel may occur in patients also receiving some enzyme-inducing anti-epileptic drugs; a perampanel dose increase may be required. Adverse events of importance with perampanel include dizziness; anger, aggression, and hostile behavior (particularly in adolescents); and falls (particularly in patients >65 years). An individualized approach to dosing, including slower up-titration and bedtime dosing, reduces dizziness risk. Other drugs may cause or aggravate dizziness; reducing concomitant drugs may be necessary when up-titrating perampanel. It would seem clinically appropriate to give due consideration to avoiding use in patients with a history of anger or hostile/aggressive behavior. The possibility of such behaviors should be discussed with patients before starting perampanel, with monitoring during up-titration. Slower up-titration of perampanel in older patients helps reduce fall risk.
Assuntos
Anticonvulsivantes/uso terapêutico , Epilepsias Parciais/tratamento farmacológico , Piridonas/uso terapêutico , Adolescente , Adulto , Anticonvulsivantes/efeitos adversos , Ensaios Clínicos como Assunto , Feminino , Humanos , Masculino , Nitrilas , Piridonas/efeitos adversos , Ensaios Clínicos Controlados Aleatórios como AssuntoRESUMO
The international marine ecological safety monitoring demonstration station in the Yellow Sea was developed as a collaborative project between China and Russia. It is a nonprofit technical workstation designed as a facility for marine scientific research for public welfare. By undertaking long-term monitoring of the marine environment and automatic data collection, this station will provide valuable information for marine ecological protection and disaster prevention and reduction. The results of some initial research by scientists at the research station into predictive modeling of marine ecological environments and early warning are described in this paper. Marine ecological processes are influenced by many factors including hydrological and meteorological conditions, biological factors, and human activities. Consequently, it is very difficult to incorporate all these influences and their interactions in a deterministic or analysis model. A prediction model integrating a time series prediction approach with neural network nonlinear modeling is proposed for marine ecological parameters. The model explores the natural fluctuations in marine ecological parameters by learning from the latest observed data automatically, and then predicting future values of the parameter. The model is updated in a "rolling" fashion with new observed data from the monitoring station. Prediction experiments results showed that the neural network prediction model based on time series data is effective for marine ecological prediction and can be used for the development of early warning systems.
Assuntos
Monitoramento Ambiental/métodos , Redes Neurais de Computação , Poluição da Água/estatística & dados numéricos , China , Ecossistema , Oceanos e Mares , TempoRESUMO
BACKGROUND: Epilepsy with myoclonic absences (EMA) is a rare epileptic syndrome with frequently poor response to antiepileptic treatment. Rufinamide (RUF) is a relatively new EMEA- and FDA-approved anticonvulsant licensed as an orphan drug for the adjunctive treatment of patients with Lennox-Gastaut syndrome. METHODS: A retrospective data analysis in 3 patients was performed. RESULTS: Add-on RUF treatment was initiated in 3 boys with EMA refractory to conventional antiepileptic therapy (primidone + valproic acid, n=1; levetiracetame + ethosuximide, n=2). It resulted in complete cessation of all seizures in 2, and a 50% reduction of the seizure frequency in one child, respectively. CONCLUSIONS: RUF add-on therapy should be considered in children with EMA not responding to conventional antiepileptic therapy.
Assuntos
Anticonvulsivantes/uso terapêutico , Epilepsias Mioclônicas/tratamento farmacológico , Triazóis/uso terapêutico , Pré-Escolar , Humanos , Masculino , Estudos RetrospectivosRESUMO
Mowat-Wilson syndrome (MWS) is an autosomal dominant developmental disorder with mental retardation and variable multiple congenital abnormalities due to mutations of the ZEB2 (ZFHX1B) gene at 2q22. MWS was first described in 1998 and the causative gene was delineated in 2001. Since then, 115 different mutations of ZEB2 have been published in association with this syndrome in 161 individuals. However, recent reports suggest that due to the variability of the congenital abnormalities, this syndrome may still be underdiagnosed. We report two unrelated patients with MWS where the clinical diagnosis was established only after finding of disruption of the ZEB2 gene by a balanced translocation breakpoint and an interstitial microdeletion, respectively.
Assuntos
Anormalidades Múltiplas/genética , Proteínas de Homeodomínio/genética , Deficiência Intelectual/genética , Proteínas Repressoras/genética , Anormalidades Múltiplas/diagnóstico , Quebra Cromossômica , Análise Citogenética , Feminino , Humanos , Recém-Nascido , Deficiência Intelectual/diagnóstico , Síndrome , Homeobox 2 de Ligação a E-box com Dedos de ZincoRESUMO
The paper gives current data on the genetic aspects of different epileptic syndromes. The data available in the world literature on clinicogenealogic, twin, and molecular genetic studies is summarized. New prospects in studying the genetics of epilepsies and epileptic syndromes are defined.
Assuntos
Epilepsia/genética , Genética Médica/métodos , Epilepsia/classificação , Epilepsia/prevenção & controle , Humanos , SíndromeRESUMO
A total of 70 patients with Duchenne progressive muscular dystrophy (DPMD) aged 3 to 20 were enrolled in this study. Peculiarities of the diagnosis and diagnostic errors were shown at different stages of medical follow-up of the patients. A half of the patients had pediatrists and orthopedists as their first doctors. Upon the initial investigation, DPMD was diagnosed in about 1/3 of the patients. Retarded motor and psycholingual development were the first signs of the disease in 72.9% and 37.1% of the cases, respectively. Bones and cartilages were also frequently changed. To improve the early DPMD diagnosis it is essential that pediatrists child surgeons and ortopedists be largely informed about the clinical features of the disease.
Assuntos
Distrofias Musculares/diagnóstico , Adolescente , Adulto , Fatores Etários , Criança , Pré-Escolar , Diagnóstico Diferencial , Erros de Diagnóstico , Humanos , Hipotonia Muscular/diagnóstico , Encaminhamento e ConsultaRESUMO
Osteochin (Quinoin, Hungary) efficacy was studied in the treatment of 20 patients with Duchenne's progressive myodystrophy. The drug was administered in a dose of 200 mg a day for a month. A favorable effect of such therapy was observed in all the patients. Osteochin was found to have a correcting effect on Ca-regulating hormone function and to promote stabilization of the myodystrophic process.
Assuntos
Bloqueadores dos Canais de Cálcio/uso terapêutico , Distrofias Musculares/tratamento farmacológico , 24,25-Di-Hidroxivitamina D 3/sangue , Avaliação de Medicamentos , Humanos , Locomoção/efeitos dos fármacos , Distrofias Musculares/sangue , Distrofias Musculares/fisiopatologia , Hormônio Paratireóideo/sangue , ComprimidosRESUMO
The authors describe a case of a benign variety of progressive Duchenne type muscular dystrophy in a 8-year-old short-stature boy. Provide the electromyographic and electroneuromyographic data, measurements of the growth hormone in blood serum and osseous age. Make suggestions about coupled inheritance of progressive Duchenne type muscular dystrophy and short stature . The latter one is likely to be attended by a decrease of anabolic processes, which may determine a more benign course of the myodystrophic process.
Assuntos
Nanismo/complicações , Distrofias Musculares/diagnóstico , Criança , Nanismo/genética , Humanos , Masculino , Distrofias Musculares/etiologia , Distrofias Musculares/genética , Linhagem , Índice de Gravidade de DoençaRESUMO
The authors describe a 16-year-old patient suffering from facial scapulohumeral myopathy. The given case is regarded as sporadic. The disease was characterized by an early debut and rapid progression of neuromuscular disorders. Marked myasthenia and muscular atrophy of the face, shoulders, thighs, as well as contractures in the knee joints, hands and feet were noted. By 15 years the patient demonstrated a noticeable progress of motor disorders: she was unable to stand up from the chair, experienced difficulties in walking along the ward, and had a waddle gait. The given symptom-complex corresponds with the infantile variety of facial scapulohumeral myodystrophy.
Assuntos
Músculos Faciais , Distrofias Musculares/diagnóstico , Ombro , Adolescente , Eletromiografia , Feminino , Humanos , Distrofias Musculares/genética , Exame Neurológico , SíndromeRESUMO
The paper concerns a family in which father and sibs (two brothers and a sister) suffered from rapid-progressing myodystrophy. Clinically, the disease was marked by a debut in the pubertal period (at 12 to 13 years), derangement of the muscles of the limb girdles, proximal parts of the legs and arms, and distal parts of the legs. The given case was also characterized by the impairment of the cervical and facial muscles as well as by associated neuromuscular lesions and neurosensory hypoacusis. The case described supports the clinical pleomorphism of the facial scapulohumeral form of Landouzy-Dejerine myopathy.
Assuntos
Surdez/complicações , Distrofias Musculares/complicações , Adolescente , Adulto , Braço , Criança , Surdez/congênito , Surdez/genética , Eletromiografia , Músculos Faciais , Feminino , Humanos , Perna (Membro) , Masculino , Distrofias Musculares/diagnóstico , Distrofias Musculares/genética , Linhagem , Escápula , Fatores de TempoRESUMO
Vitamin B12 deficiency is often attended by neuropsychic disorders. In the geriatric population, the level of vitamin B12 is mostly reduced. However, the clinical manifestations and pathogenesis are not completely specified. The authors describe a female patients in whom vitamin B12 deficiency was coupled with manifest neuropsychic disorders. Provide a detailed depiction of the clinical status, the disease course and laboratory findings. Relate the most typical neuropsychic manifestations of vitamin B12 deficiency.
Assuntos
Ataxia/etiologia , Transtornos Cognitivos/etiologia , Transtornos Neurocognitivos/etiologia , Parestesia/etiologia , Deficiência de Vitamina B 12/complicações , Ataxia/diagnóstico , Transtornos Cognitivos/diagnóstico , Feminino , Humanos , Pessoa de Meia-Idade , Transtornos Neurocognitivos/diagnóstico , Parestesia/diagnóstico , Deficiência de Vitamina B 12/psicologiaRESUMO
Juvenile myoclonic epilepsy (JME) is an idiopathic primary generalized epilepsy of teenagers, characterized by massive myoclonic seizures. 18 patients were investigated. Myoclonic seizures first appeared at the mean age of 14 years and were characterized by short rapid abrupt involuntary jerks of extremities with the preserved consciousness. There were 2 types of myoclonic fits: massive seizures with symmetric jerks of extremities (33% of patients) and asymmetric asynchronous seizures of various frequency and intensity (67% of patients). In 50% of patients there were myoclonic seizures in leg muscles, in some cases patients fell down (myoclonic-astatic seizures). The authors emphasize the unusually high frequency of cases with myoclonic seizures combined with absences (66,7%) and generalized convulsions (83,3%) occurring on awakening. It is suggested that myoclonic component in the structure of absences may be an early sign of JME and predict development of myoclonic seizures.