Assuntos
Doenças dos Gânglios da Base , Cromossomos Humanos Par 4/genética , Adolescente , Adulto , Doenças dos Gânglios da Base/epidemiologia , Doenças dos Gânglios da Base/genética , Doenças dos Gânglios da Base/fisiopatologia , Área Programática de Saúde , Análise Mutacional de DNA , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Mutação Puntual/genética , Prevalência , Federação Russa/epidemiologia , SíndromeRESUMO
One hundred and three patients with spinal muscular atrophy (SMA) were registered in a population medical genetic study of autosomal recessive childhood proximal SMA in Saratov region. Twenty-five patients were investigated complexly, using biochemical analysis of some enzymes, electroneuromyography, magnetic resonance imaging of spinal cord, muscle biopsy and molecular genetic testing. Pronounced clinical polymorphism and genetic heterogeneity of the disease were revealed.
Assuntos
Cromossomos Humanos Par 5/genética , Proteínas do Tecido Nervoso/genética , Atrofias Musculares Espinais da Infância/genética , Biópsia , Criança , Proteína de Ligação ao Elemento de Resposta ao AMP Cíclico , Feminino , Humanos , Imageamento por Ressonância Magnética , Masculino , Músculo Esquelético/patologia , Mutação Puntual/genética , Proteínas de Ligação a RNA , Proteínas do Complexo SMN , Medula Espinal/patologia , Atrofias Musculares Espinais da Infância/diagnósticoRESUMO
Lamictal (Lamotrigin) action was studied in 61 patients with partial and generalized epileptic seizures (not fewer than twice a month). Most of the patients received Lamictal in doses of 200-300 mg daily as well as other antiepileptic medications (before lamictal all patients were treated without effect with various antiepileptic medications). Effectiveness of treatment with lamictal includes: the cessation of epileptic attacks (5 patients), its more rare appearance (31 patients), transformation into more light fits (15 patients). Lamictal has a broad spectrum of antiepileptic activity: it stops generalized tonic-clonic seizures, absences, simple and complex partial seizures as well as secondarily generalized tonic-clonic seizures. The medication is also effective in patients with psychopathologic symptoms.
Assuntos
Anticonvulsivantes/administração & dosagem , Epilepsias Parciais/tratamento farmacológico , Epilepsia Generalizada/tratamento farmacológico , Triazinas/administração & dosagem , Adolescente , Adulto , Anticonvulsivantes/efeitos adversos , Criança , Pré-Escolar , Doença Crônica , Epilepsias Parciais/psicologia , Epilepsia Generalizada/psicologia , Feminino , Humanos , Lamotrigina , Masculino , Pessoa de Meia-Idade , Neuropsicologia , Fatores de Tempo , Triazinas/efeitos adversosRESUMO
Blood rheology, hemocoagulation, free-radical oxidation, acid-alkaline condition of the capillary and venous blood were investigated in 62 ICIB patients before and after treatment which consisted of 8 hyperbaric oxygenation (HBO) sessions or 3 HBO sessions (1.5 atm and 1,2 atm, respectively), the rest patients were not exposed to HBO. The best therapeutic results were achieved with a short-term HBO at a small excessive pressure. The longer HBO regimen provided no positive tendencies in clinical parameters. On the contrary, it provoked blood rheology deterioration, activation of free-radical oxidation stemming from diminished adaptation to hyperoxia in ICIB.
Assuntos
Transtornos Cerebrovasculares/sangue , Transtornos Cerebrovasculares/terapia , Agregação Eritrocítica , Oxigenoterapia Hiperbárica/métodos , Peroxidação de Lipídeos , Adolescente , Adulto , Viscosidade Sanguínea , Doença Crônica , Terapia Combinada , Feminino , Radicais Livres/sangue , Humanos , Masculino , Pessoa de Meia-IdadeRESUMO
Antiepileptic effects of lamiktal (lamotrigine) produced in Great Britain (Wellcome) was tried in 7 children aged 3-14 and 3 adults aged 18-30. Of them 6 patients and 4 patients suffered from temporal polymorphic fits and general paroxysms, respectively. Upon 3-month follow-up it was found that the fits discontinued in 4 patients, frequency of the paroxysms reduced or they became abortive in 6 cases. EEG changes were insignificant. No side effects occurred. Lamiktal is recommended in polymorphic seizures in children and adults, in failure of other anticonvulsants in patients frequently affected with epileptic paroxysms.
