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1.
Neuromuscul Disord ; 26(11): 789-795, 2016 11.
Artigo em Inglês | MEDLINE | ID: mdl-27634344

RESUMO

Congenital myasthenic syndromes (CMS) are a heterogeneous group of genetic disorders. Mutations in CHRNE are one of the most common cause of them and the ɛ1267delG frameshifting mutation is described to be present on at least one allele of 60% of patients with CHRNE mutations. We present a comprehensive description of the heterogeneous clinical features of the CMS caused by the homozygous 1267delG mutation in the AChR Ɛ subunit in nine members of two large Gipsy kindreds. Our observations indicate that founder Roma mutation 1267delG leads to a phenotype further characterized by ophthalmoplegia, bilateral ptosis, and good response to pyridostigmine and 3,4-DAP; but also by facial weakness, bulbar symptoms, neck muscle weakness, and proximal limb weakness that sometimes entails the loss of ambulation. Interestingly, we found in our series a remarkable proportion of patients with a progressive or fluctuating course of the disease. This finding is in some contrast with previous idea that considered this form of CMS as benign, non progressive, and with a low impact on the capacity of ambulation.


Assuntos
Síndromes Miastênicas Congênitas/genética , Síndromes Miastênicas Congênitas/fisiopatologia , Receptores Nicotínicos/genética , Adolescente , Adulto , Criança , Família , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Mutação , Síndromes Miastênicas Congênitas/patologia , Síndromes Miastênicas Congênitas/terapia , Fenótipo , Roma (Grupo Étnico) , Espanha , Adulto Jovem
2.
Rev Neurol ; 43(7): 393-7, 2006.
Artigo em Espanhol | MEDLINE | ID: mdl-17006857

RESUMO

INTRODUCTION: Levetiracetam (LEV) is the latest drug approved in the European Union for use in polytherapy in children over 4 years of age with partial epileptic seizures that are resistant to other antiepileptic drugs. AIM. To report our experience of associating LEV in children with medication resistant epileptic seizures. PATIENTS AND METHODS: We conducted an open, observational, respective study involving 133 children with refractory epilepsies: 106 with focal seizures and 27 with other types of seizures. LEV was associated over a period of more than 6 months and we evaluated its repercussion on the frequency of the seizures and the side effects related to the drug. RESULTS: With average doses of LEV of 1,192 +/- 749 mg/day the frequency of the seizures was reduced by over 50% in 58.6% of cases and seizures were quelled in 15.8% of patients. Side effects were produced in 27.8% of cases, and were usually transient or tolerable; these effects led to withdrawal of LEV in only eight cases (6.02%). In 37 children (27.8%), their relatives noted an improvement in their social behaviour and cognitive abilities. CONCLUSIONS: a) LEV is an effective drug that is well tolerated in children with refractory epilepsy; b) Its effectiveness in different types of seizures indicates a broad therapeutic spectrum; and c) LEV can even condition favourable secondary effects, a circumstance that has been reported only exceptionally in the case of other antiepileptic drugs.


Assuntos
Anticonvulsivantes/uso terapêutico , Epilepsia/tratamento farmacológico , Piracetam/análogos & derivados , Adolescente , Criança , Pré-Escolar , Resistência a Medicamentos , Feminino , Humanos , Levetiracetam , Masculino , Piracetam/uso terapêutico , Estudos Retrospectivos
3.
Parasitology ; 132(Pt 4): 511-23, 2006 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-16332290

RESUMO

Tubulin is the predominant phosphoprotein in Trypanosoma cruzi epimastigotes and is phosphorylated by a protein kinase CK2. Interestingly, the presence or absence of divalent cations affected the solubilization of a pool of the parasite tubulin and the CK2 responsible for its phosphorylation. This fraction of tubulin and its kinase co-eluted using phosphocellulose, DEAE-Sepharose and Sephacryl S-300 chromatographies. Anti-alpha tubulin antibodies co-immunoprecipitated both tubulin and the CK2 responsible for its phosphorylation, and anti-CK2 alpha-subunit antibodies immunoprecipitated radioactively labelled alpha and beta tubulin from phosphorylated epimastigote homogenates. Additionally, native polyacrylamide gel electrophoresis of the purified and radioactively labelled fraction containing tubulin and its kinase demonstrated the phosphorylation of a unique band that reacted with both anti-CK2 alpha-subunit and anti-tubulin antibodies. Together, these results establish a strong interaction between a pool of the heterodimeric alpha/beta tubulin and a CK2 in this parasite. Hydrodynamic measurements indicated that the T. cruzi tubulin-CK2 complex is globular with an estimated size of 145.4-147.5 kDa.


Assuntos
Caseína Quinase II/metabolismo , Trypanosoma cruzi/metabolismo , Tubulina (Proteína)/metabolismo , Animais , Anticorpos Antiprotozoários/imunologia , Western Blotting/métodos , Caseína Quinases/metabolismo , Cátions Bivalentes/metabolismo , Cátions Bivalentes/farmacologia , Células Cultivadas , Cromatografia/métodos , Imunoprecipitação/métodos , Fosforilação , Ligação Proteica/fisiologia , Coelhos , Tubulina (Proteína)/efeitos dos fármacos , Tubulina (Proteína)/imunologia
4.
Rev Neurol ; 37(11): 1005-8, 2003.
Artigo em Espanhol | MEDLINE | ID: mdl-14669138

RESUMO

INTRODUCTION: Levetiracetam (LEV) is the latest antiepileptic drug (AED) to be marketed, and is indicated for use in association in adults with focal seizures. AIMS: The purpose of this study is to report on our experience of administering LEV to children and adolescents with pharmacoresistant epilepsies. PATIENTS AND METHODS: Retrospective open trial involving the observation of 43 children and adolescents with refractory epilepsies, using associated LEV for more than 6 months on an individual basis, the aim of which was to evaluate the repercussions on the frequency of the seizures, together with the adverse and beneficial side effects of LEV administration. RESULTS: With mean doses of LEV of 45.01 +/- 33.02 mg/kg/day the frequency of seizures was reduced by >50% in 65% of patients, while seizures were completely eradicated in 14% of patients; adverse side effects were reported in 28% of patients, although these were usually transient or tolerable, as LEV administration only had to be stopped for this reason in two cases (4.65%). Relatives noted an improvement in social behaviour and in cognitive skills in the case of 15 children (34.9%). CONCLUSIONS: 1. LEV is an effective drug that is well tolerated in children and adolescents with refractory epilepsies; 2. Its effectiveness in different types of seizures suggests a broad therapeutic spectrum; 3. LEV is a well tolerated drug with favourable side effects, a fact that is rarely reported with regard to other AED.


Assuntos
Anticonvulsivantes/uso terapêutico , Epilepsia/tratamento farmacológico , Piracetam/uso terapêutico , Adolescente , Anticonvulsivantes/efeitos adversos , Criança , Pré-Escolar , Feminino , Humanos , Levetiracetam , Masculino , Piracetam/efeitos adversos , Piracetam/análogos & derivados , Estudos Retrospectivos
5.
An Pediatr (Barc) ; 58(5): 411-7, 2003 May.
Artigo em Espanhol | MEDLINE | ID: mdl-12724072

RESUMO

OBJECTIVE: To evaluate exposure to the major risk factors for cardiovascular disease in children from Medellín according to age, sex, type of school, and socioeconomic status. METHOD: We performed a descriptive study in 2611 children aged 6-18 years old from the city of Medellín in Colombia. Lipid profile, blood pressure, body mass index, diet, exercise, alcohol intake, and smoking were evaluated. RESULTS: Forty-six percent of the children drank alcohol, 8.7 % smoked and 50 % were physically inactive. Fat and carbohydrate intake was high in 48 % and 47 %, respectively. A total of 9.3 % of the children were overweight and 4.6 % were obese. Systolic and diastolic blood pressure were high in 1.3 % and 3.9 %, respectively. Mean high-density lipoprotein cholesterol (HDL-C) values were lower than in other populations, while triglyceride values were higher. Differences in serum lipid concentrations were found according to age and sex. The prevalence of risk factors according to the National Cholesterol Education Program criteria were: 19.1 % for HDL-C, 17.1 % for triglycerides, 17.0 % for low-density lipoprotein cholesterol (LDL-C), 13.5 % for total cholesterol (TC) and 22.9 % for TC/HDL-C. CONCLUSIONS: In children from the city of Medellín, the most prevalent cardiovascular risk factors were related to lifestyle. Mean plasma lipid concentrations varied according to age and sex. The prevalence of overweight was higher than in other populations in Colombia but was lower than that reported for other countries.


Assuntos
Doenças Cardiovasculares , Lipoproteínas/sangue , Adolescente , Consumo de Bebidas Alcoólicas/efeitos adversos , Índice de Massa Corporal , Doenças Cardiovasculares/sangue , Doenças Cardiovasculares/epidemiologia , Doenças Cardiovasculares/etiologia , Área Programática de Saúde , Criança , Colômbia/epidemiologia , Gorduras na Dieta , Ingestão de Energia , Feminino , Humanos , Masculino , Prevalência , Fatores de Risco , Fumar/efeitos adversos , Fatores Socioeconômicos
6.
Rev Neurol ; 35(4): 349-53, 2002.
Artigo em Espanhol | MEDLINE | ID: mdl-12235567

RESUMO

INTRODUCTION: In approximately 5% of epilepsy patients, seizures are triggered off by a specific sensory stimulus, in other words, they have reflex epilepsies. Among these, seizures triggered off by hot water are exceptional, and especially so in our community as nearly all the cases have been reported as occurring in India. CASE REPORT: Our case involves a 2 year old girl who, from the first weeks onwards, presented bouts of paleness, hypotonia and loss of consciousness when her head came into contact with hot water. The findings from clinical, neurophysiological and neuroimaging studies are described and there was a good response to treatment with valproate. DISCUSSION: The induction of epileptic seizures by immersion in hot water has only rarely been reported in western countries. Its physiopathology remains unknown but genetic factors that determine an alteration in cranial thermoregulation seem to be involved. With similar clinical and electroencephalographic characteristics in patients, the prognosis is usually favourable because of a good response to pharmacological treatment and the tendency toward spontaneous remission of the seizures.


Assuntos
Epilepsia Reflexa/etiologia , Temperatura Alta/efeitos adversos , Imersão/efeitos adversos , Água , Anticonvulsivantes/uso terapêutico , Regulação da Temperatura Corporal , Pré-Escolar , Eletroencefalografia , Epilepsia Reflexa/tratamento farmacológico , Epilepsia Reflexa/epidemiologia , Feminino , Humanos , Ácido Valproico/uso terapêutico
7.
J Urol ; 166(4): 1364-7, 2001 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-11547075

RESUMO

PURPOSE: We describe extracapsular prostatectomy performed by applying lateral capsular transfixing sutures after adenoma enucleation and minimum operative hemorrhage. MATERIALS AND METHODS: A total of 117 patients with prostatic hypertrophy underwent surgery. After adenomectomy transfixing sutures were placed at the 3 and 9 o'clock positions clockwise around the prostatic capsule (hila). Five variables were used to quantify intraoperative and postoperative hemorrhage. RESULTS: Average intraoperative blood loss was 175 cc and average minimal decrease in hematocrit was 3.9%. Most patients had postoperative bleeding through the urethral and suprapubic catheters. CONCLUSIONS: Extracapsular prostatectomy with the application of lateral capsular transfixing sutures causes minimum operative hemorrhage.


Assuntos
Perda Sanguínea Cirúrgica/prevenção & controle , Técnicas Hemostáticas , Hemorragia Pós-Operatória/prevenção & controle , Prostatectomia/efeitos adversos , Prostatectomia/métodos , Hiperplasia Prostática/cirurgia , Técnicas de Sutura , Humanos , Masculino , Hemorragia Pós-Operatória/etiologia
8.
Rev Neurol ; 33(10): 948-51, 2001.
Artigo em Espanhol | MEDLINE | ID: mdl-11785006

RESUMO

INTRODUCTION: Most congenital malformations of which the cause is known are due to genetic or multifactorial causes or are secondary to a teratogen. Many congenital malformations are of unknown origin. However, the association of different malformations allows us to define the moment in which the noxous agent affected embryonic or foetal development. CLINICAL CASE: We present the case of a baby born after 40 weeks gestation, who had been exposed to ionising radiation before birth. Prenatal echography showed microcephaly and the karyotype was normal. The newborn baby had corneal opacities, microcephaly and complex encephalic malformations. The corneal opacity together with congenital glaucoma constitute Peters syndrome which leads to blindness, and is treated by trabeculectomy and bilateral corneal transplants. The microcephaly and lobar holoprosencephaly with agenesis of the corpus callosum led to reduced psychomotor development, hypertonia and epilepsy with an electroencephalogram recording of hemihypsarrythmia which was unsuccessfully treated with valproate and vigabatrine. At the age of 21 months the patient developed an embryonic rhabdomyosarcoma of the base of the tongue. He died with systemic infection whilst being treated with chemotherapy. CONCLUSIONS: The association of the malformations described has not previously been reported in the international data bases. Although it was not possible to prove that prenatal exposure to radiation caused the clinical condition described, the possibility of teratogenesis and carcinogenesis following such exposure means that pregnant women or those who may be pregnant should not be in places where radiodiagnosis is carried out.


Assuntos
Encéfalo/anormalidades , Holoprosencefalia/diagnóstico , Neoplasias Induzidas por Radiação/patologia , Diagnóstico Pré-Natal , Rabdomiossarcoma/etiologia , Rabdomiossarcoma/patologia , Neoplasias da Língua/etiologia , Neoplasias da Língua/patologia , Anormalidades Múltiplas , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Evolução Fatal , Doenças Fetais/etiologia , Lateralidade Funcional/fisiologia , Glaucoma/cirurgia , Holoprosencefalia/genética , Humanos , Recém-Nascido , Imageamento por Ressonância Magnética , Masculino , Rabdomiossarcoma/tratamento farmacológico , Neoplasias da Língua/tratamento farmacológico
9.
Rev Neurol ; 31(1): 38-41, 2000.
Artigo em Espanhol | MEDLINE | ID: mdl-10948581

RESUMO

INTRODUCTION: The diagnosis of hereditary neuropathy with liability to pressure palsies during childhood is uncommon, since the disorder is still asymptomatic and the clinical features are nonspecific. CLINICAL CASE: We present a case of hereditary neuropathy with liability to pressure palsies in a seven and a half year old girl with deteriorating clinical findings of 'pies cavos', scoliosis, difficulty in walking and torticollis, but without episodes of paralysis. On the electroneurographic (ENG) study numerous anomalies of sensory and motor nerve conduction were seen, especially at sites of nerve trapping, both in the patient and in her mother; genetic study showed deletions of chromosome 17p11.2 in both. CONCLUSIONS: Hereditary neuropathy with liability to pressure palsiesin childhood may follow a course which does not show typical pressure palsies. Therefore the ENG study is very important for detection of the disorder. Torticollis, as well as pies cavos and scoliosis, is frequently seen in neuropaediatric clinics, so the possibility, as in the case reported, that this is part of the clinical spectrum of hereditary neuropathy with liability to pressure palsies should be considered. With diagnostic confirmation on genetic studies, nerve biopsy is not necessary.


Assuntos
Neuropatia Hereditária Motora e Sensorial/genética , Paralisia/genética , Biópsia , Doença de Charcot-Marie-Tooth/diagnóstico , Doença de Charcot-Marie-Tooth/genética , Criança , Diagnóstico Diferencial , Eletromiografia/métodos , Feminino , Neuropatia Hereditária Motora e Sensorial/patologia , Humanos , Paralisia/patologia , Linhagem , Nervos Periféricos/patologia , Nervos Periféricos/fisiopatologia , Pressão
10.
Pediatr Res ; 48(3): 315-22, 2000 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-10960496

RESUMO

Glutaryl-CoA dehydrogenase (GCDH) deficiency causes glutaric aciduria type I (GA I), an inborn error of metabolism that is characterized clinically by dystonia and dyskinesia and pathologically by neural degeneration of the caudate and putamen. Studies of metabolite excretion allowed us to categorize 43 GA I Spanish patients into two groups: group 1 (26 patients), those presenting with high excretion of both glutarate and 3-hydroxyglutarate, and group 2 (17 patients), those who might not be detected by routine urine organic acid analysis because glutarate might be normal and 3-hydroxyglutarate only slightly higher than controls. Single-strand conformation polymorphism (SSCP) screening and sequence analysis of the 11 exons and the corresponding intron boundaries of the GCDH gene allowed us to identify 13 novel and 10 previously described mutations. The most frequent mutations in group 1 were A293T and R402W with an allele frequency of 30% and 28%, respectively. These two mutations were also found in group 2, but always in heterozygosity, in particular in combination with mutations V400M or R227P. Interestingly, mutations V400M and R227P were only found in group 2, and at least one of these mutations was found in 11 of 15 unrelated alleles, accounting together for 53% of the mutant alleles in group 2. Therefore, it seems clear that two genetically and biochemically distinct groups of patients exist. The severity of the clinical phenotype seems to be closely linked to the development of encephalopathic crises rather than to residual enzyme activity or genotype. Comparison of GCDH protein with other acyl-CoA dehydrogenases (whose x-ray crystal structure has been determined) reveals that most of the mutations identified in GCDH protein seem to affect folding and tetramerization, as has been described for a number of mutations affecting mitochondrial beta-oxidation acyl-CoA dehydrogenases.


Assuntos
Glutaratos/urina , Doenças Metabólicas/genética , Doenças Metabólicas/urina , Oxirredutases atuantes sobre Doadores de Grupo CH-CH , Oxirredutases/deficiência , Oxirredutases/genética , Polimorfismo Genético , Alelos , Sequência de Aminoácidos , Feminino , Frequência do Gene , Glutaril-CoA Desidrogenase , Humanos , Masculino , Dados de Sequência Molecular , Mutação , Alinhamento de Sequência , Espanha
11.
J Sports Med Phys Fitness ; 40(1): 26-34, 2000 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-10822906

RESUMO

BACKGROUND: To determine the reliability of squatting jumps (SJ), counter-movement jumps (CMJ) and drop jumps (DJ) tests, as well as the reliability of the optimal dropping height during drop jumping. METHODS: Jumping performance was assessed in 8 male and 9 female physical education students. Their age, weight and height (mean +/- SD) were 23.9 +/- 2.1 years, 72.0 +/- 12.1 kg, 174.3 +/- 10.4 cm, and 23.1 +/- 2.0 years, 54.8 +/- 4.9 kg, 160.1 +/- 5.0 cm for the males and females, respectively. The jumping performance was determined on six different testing days. On each testing day, squatting jumps (SJ) and counter-movement jumps (CMJ) were performed as well as drop jumps (DJ) from heights between 20 and 100 cm. The dropping height given the maximum attained height was registered as the optimal dropping height (ODH). After a 15 min rest period, a 30 sec hopping test (HT) was performed and the mean height attained (MHT) as well as the number of jumps executed (NHT) were recorded. The height attained was computed from the flight time, which was measured with a digital timer (+/- 0.001 sec) connected to a resistive platform. RESULTS: The pooled coefficients of variation in percentage were 5.4 (SJ), 6.3 (CMJ), 6.2 (DJ), 31.9 (ODH), 3.1 (NHT) and 6.7 (MHT). A parabolic relationship between dropping height and attained height was found (r = 0.39-0.43, p < 0.001). The ODH was 48.2 +/- 14.0 cm and 62.9 +/- 21.3 cm for females and males, respectively (p < 0.05). Multiple regression analysis showed than ODH can be predicted from the SJ with a standard error of 9 cm. CONCLUSIONS: The variability of the assessment of jumping performance is similar to that reported for other variables used in the assessment of physical fitness. In contrast, the assessment of the optimal dropping height is less reliable.


Assuntos
Aptidão Física , Adulto , Feminino , Humanos , Masculino , Análise de Regressão , Reprodutibilidade dos Testes
12.
Rev Neurol ; 29(8): 744-53, 1999.
Artigo em Espanhol | MEDLINE | ID: mdl-10560111

RESUMO

OBJECTIVE: To review the role of intravenous valproate (i.v. VPA) as an alternative to the oral route in the acute treatment of epileptic seizures and status epilepticus, and to establish criteria for its use. DEVELOPMENT: The bioavailability and tolerance of i.v. VPA, when administered in infusion for 60 minutes every 6 hours, are similar to those of oral VPA. Much of the data on acute administration, by injections of 3 to 5 minutes, for the treatment of seizures, are from series of cases and summaries from congresses and require confirmation. However, they suggest that i.v. VPA may be useful for the treatment of: a) convulsions due to insufficient blood drug levels or failure to take the drug, in order to rapidly raise the drug levels; b) a generalized convulsive status which is partially resistant to diazepam and phenytoin, as a non-depressant alternative to phenobarbital and other CNS depressants, and c) a non-convulsive status as an alternative to benzodiazepines when it is desired to avoid their side effects or when the treatment is going to be continued with oral VPA. The initial dose should be based on the concentration to be reached and the patient's previous VPA levels; the maintenance dose should be based on the stable level to be maintained, the age of the patient and the presence of enzyme inducers. CONCLUSION: Intravenous VPA would seem to offer new perspectives for the acute treatment of seizures, but its usefulness may be critically dependent on its correct use based on clinical and pharmacokinetic principles.


Assuntos
Anticonvulsivantes/uso terapêutico , Epilepsia/tratamento farmacológico , Ácido Valproico/uso terapêutico , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Anticonvulsivantes/sangue , Criança , Pré-Escolar , Relação Dose-Resposta a Droga , Hipersensibilidade a Drogas , Humanos , Lactente , Recém-Nascido , Infusões Intravenosas , Pessoa de Meia-Idade , Ácido Valproico/sangue
13.
Rev Neurol ; 28(11): 1052-6, 1999.
Artigo em Espanhol | MEDLINE | ID: mdl-10390772

RESUMO

INTRODUCTION: Topiramate (TPM) is a new antiepileptic drug with multiple modes of action which should theoretically represent a wide therapeutic spectrum. However, there is still little clinical experience of its use in children with epilepsy. PATIENTS AND METHODS: TPM was given during a period of 14.8 +/- 15.4 months, at an average dose of 6.6 +/- 2.5 mg/kg/day to 44 children with resistant epilepsy. They included 21 children with Lennox-Gastaut syndrome, 14 with partial epilepsy, 7 with multifocal epilepsy, one with polymorphic epilepsy and one with electrical changes during sleep. RESULTS: When TPM was associated with their treatment, a response of > 50% reduction in epileptic crises was seen in 76% of the cases (85% with Lennox-Gastaut syndrome, 64% with partial epilepsy, 71% with multifocal epilepsy) and suppression of crises in 12% of the cases (5% with Lennox-Gastaut syndrome, 21% with partial epilepsy and 14% with multifocal epilepsy). The drug was well tolerated and only stopped because of side-effects in 4.5% of the cases. CONCLUSIONS: TPM is an antiepileptic drug with a broad therapeutic spectrum, good clinical efficacy in children and is well tolerated by them.


Assuntos
Anticonvulsivantes/uso terapêutico , Epilepsia/tratamento farmacológico , Frutose/análogos & derivados , Criança , Resistência a Medicamentos , Tolerância a Medicamentos , Feminino , Frutose/uso terapêutico , Humanos , Masculino , Topiramato , Resultado do Tratamento
14.
Rev Neurol ; 28(8): 741-5, 1999.
Artigo em Espanhol | MEDLINE | ID: mdl-10363313

RESUMO

INTRODUCTION: Since 1997 when Ecke et al described peripheral constriction of the visual field in three patients taking vigabatrin (VGB), and persistence of the changes after the drug was stopped, study of the visual fields of persons taking this antiepileptic drug has increased. OBJECTIVE: To evaluate the ocular repercussions of monotherapy with carbamazepine (CBZ), valproate (VPA) and VGB in children with epilepsy. PATIENTS AND METHODS: We made a blind retrospective study to evaluate visual side effects using Goldmann's campimetry and direct ophthalmoscopy in 9 children treated for 2.1 years with CBZ, 12 children treated with VPA for 3.1 years and 12 children treated for 2.1 years with VGB, all as monotherapy. In recent years visual evoked potentials (VEP) have also been assessed before starting treatment and every six months during treatment. RESULTS: One child treated with CBZ had changes in vision (blurred vision which disappeared on reducing the dose), 3 treated with VGB (diplopia which disappeared spontaneously in 2 and after reducing the dose in 1) and none of the group treated with VPA had these symptoms. All the campimetry done was found to be normal. Two of the 12 children treated with VGB had reduction in the amplitude of VEP, which became normal later. CONCLUSIONS: Since the changes in vision caused by VGB seem to be irreversible and asymptomatic in most cases, campimetric study is advisable in patients taking VGB, both when starting treatment and whilst this is being continued.


Assuntos
Anticonvulsivantes/efeitos adversos , Epilepsias Parciais/tratamento farmacológico , Campos Visuais/efeitos dos fármacos , Ácido gama-Aminobutírico/análogos & derivados , Adolescente , Criança , Método Duplo-Cego , Feminino , Humanos , Masculino , Receptores de GABA/efeitos dos fármacos , Estudos Retrospectivos , Vigabatrina , Ácido gama-Aminobutírico/efeitos adversos
15.
Rev Neurol ; 28(5): 444-8, 1999.
Artigo em Espanhol | MEDLINE | ID: mdl-10229954

RESUMO

INTRODUCTION: Both vigabatrin (VGB) and lamotrigine (LTG) have been shown to be effective in the control of epileptic crises in double-blind randomized studies, as compared with placebos and as treatment in addition to the classical drugs. PATIENTS AND METHODS: In this study we made a retrospective analysis of the evolution of 97 children aged from 6 months to 16 years with resistant epilepsy, to whose treatment either VGB or LTG were added. RESULTS: Frequency of the crises was reduced by > 50% in 54.7% of the children treated with VGB and in 57.9% of those treated with LTG. However, with VGB total remission of the crises was achieved in 40% and with LTG in 13% of cases. Vigabatrin is more effective than lamotrigine in suppressing crises in children with partial crises (44% as compared with 9%). In children with generalize crises treated with LTG there was a reduction of > 50% in 69% of cases and with VGB in 46% (p = 0.02) but total suppression of crises was also seen more often with VGB (32% as compared with 19%, p = 0.12). Both drugs were well tolerated. In only one child treated with VGB and one treated with LTG did this treatment have to be suspended, in both cases due to psychotic reactions. CONCLUSIONS: No significant relationship was seen between dosage and serum levels, nor between serum levels and efficacy or side-effect. However, determinations of serum levels may be useful to detect excessively high levels of LTG which may lead to side-effects, especially when used in polytherapy.


Assuntos
Anticonvulsivantes/uso terapêutico , Epilepsia/tratamento farmacológico , Triazinas/uso terapêutico , Ácido gama-Aminobutírico/análogos & derivados , Adolescente , Anticonvulsivantes/sangue , Criança , Pré-Escolar , Relação Dose-Resposta a Droga , Feminino , Humanos , Lactente , Lamotrigina , Masculino , Estudos Retrospectivos , Resultado do Tratamento , Triazinas/sangue , Vigabatrina , Ácido gama-Aminobutírico/sangue , Ácido gama-Aminobutírico/uso terapêutico
16.
Rev Neurol ; 28(1): 105-9, 1999.
Artigo em Espanhol | MEDLINE | ID: mdl-10101777

RESUMO

INTRODUCTION AND OBJECTIVE: Rett syndrome was described in 1966 and became known through the English medical literature in 1983. There are typical and atypical forms. The objective of this study was to record the cases diagnosed in Spain and discover their clinical characteristics in order to describe its phenotype and geographical distribution. PATIENTS AND METHODS: We know of 207 cases and have obtained the records of 168 of these patients. A protocol and data collection programme has been developed giving the criteria for inclusion, and data which support or exclude this. Data collection was by post and the data for identification were the date of birth and the initials of the name and two surnames. With these variables, double-registering of patients was almost impossible. A statistical study with descriptive analysis and a study of continuous and alternating variables was immediately done. RESULTS AND CONCLUSION: The results gave the main characteristics, the differences between typical and atypical cases and a comparative study of variables. It has given clinical data which may be useful for prognosis of the condition in the future.


Assuntos
Síndrome de Rett/epidemiologia , Adolescente , Adulto , Distribuição por Idade , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Espanha/epidemiologia
17.
Rev Neurol ; 29(11): 1089-92, 1999.
Artigo em Espanhol | MEDLINE | ID: mdl-10637877

RESUMO

OBJECTIVE: In order to increase the awareness and perception of guidelines as a helpful tool in clinical practice, a description of its main features, foundations and social context is provided. DEVELOPMENT: Protocols, algorithms and guidelines are defined as instruments to improve patient care without interfering with the clinician's criteria regarding a particular patient. They are supported by the Evidence Based Medicine, and its development follows precise rules. Guidelines are the product of high quality research, made public through Medline, research that is previously evaluated in a specified manner. The level of evidence determines the strength of the recommendation. The effects of guidelines on the health status of patients are one of the subjects of the outcomes assessment methodology. They have some limitations but they contribute to avoid arbitrary practice and to reduce practice variability among professionals. Their contribution to the present health system management and to optimized resources utilization is decisive. CONCLUSIONS: At present, clinical, scientific and management practices are closely related. Guidelines have a role in the three aspects of the Health System.


Assuntos
Guias de Prática Clínica como Assunto , Protocolos Clínicos , Medicina Baseada em Evidências , Serviços de Saúde/normas , Humanos , Avaliação de Resultados em Cuidados de Saúde
18.
Cir Pediatr ; 11(1): 15-8, 1998 Jan.
Artigo em Espanhol | MEDLINE | ID: mdl-9662865

RESUMO

UNLABELLED: The purpose of this project is to determine the role of the retrogade endoscopic dilatation with balloon and derivation using double pig-tail catheter, as inicial treatment for the vesicoureteral junction stenosis in children. As there are no previous paediatric publications, we present the technical details and early results. From August 1994 to December 1995, we have treated 11 children (8 boys and three girls), whose ages were between 4 months and eleven years, with objectivated vesicoureteral stenosis. Six of which were primary obstructive megaureters, and the other five were secondary obstructive megaureters (two were secondary to posterior urethral valves, one to neurogenic bladder, another one to ectopic ureter, and the last one was secondary to previous antirreflux surgery). We have used rigid dilatators and 7 Fr balloons over guide. All the patients have improved from their obstruction (proved by renogram). In six of the cases only one dilatation was needed, and in the other five only two dilatations. Only two patients presented reflux (grade I and IV). CONCLUSIONS: The endoscopic dilatation of the obstructive megaureter in children is possible, and reflux is rare.


Assuntos
Cateterismo/métodos , Obstrução Ureteral/diagnóstico , Obstrução Ureteral/terapia , Cateterismo Urinário/métodos , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Estudos Retrospectivos
19.
Arch Esp Urol ; 51(3): 243-51, 1998 Apr.
Artigo em Espanhol | MEDLINE | ID: mdl-9622915

RESUMO

OBJECTIVE: To analyze the survival and the main prognostic factors in patients with transitional cell carcinoma of the upper urinary tract. METHODS: From 1983 to 1996, we treated 50 patients with transitional cell carcinoma of the upper urinary tract. Treatment was basically conservative except in those cases whose tumor stage or grade required a radical approach. Grading and staging were performed according to the 1992 TNM classification. Eighteen patients had died at one year mean follow-up., At the time the study was completed (June, 1997), 32 patients were alive with a mean follow-up of 4.9 years. Disease-free survival, overall and specific survival were analyzed according to sex, age, association with bladder tumors, localization, type of treatment, tumor size, number, histological grade and stage. RESULTS: The male-to-female ratio was 5:1. Patient mean age was 65.7 years. Association with bladder tumors was observed in 50%. Treatment was conservative in 40% and radical in 60%. The five- and ten-year disease-free survival rates were 69%, overall survival 61% and specific survival 71%. The univariate analysis showed the following to be unfavorable prognostic factors for survival: renal vs ureteral tumors, radical vs conservative treatment, high grade and stage tumors. The association of carcinoma in situ with other tumors of the upper urinary tract was also found to be an unfavorable factor for disease-free survival. The multivariate analysis associated T4 and G3 tumors with poor prognosis. CONCLUSIONS: Transitional cell carcinoma of the upper urinary tract was associated with bladder tumors in 50% of the cases. Low grade stage tumors demonstrated a high survival rate, therefore conservative treatment should be the first approach. High grade/ stage tumors were found to be unfavorable prognostic factors for survival.


Assuntos
Carcinoma de Células de Transição/mortalidade , Neoplasias Renais/mortalidade , Neoplasias Ureterais/mortalidade , Adulto , Idoso , Idoso de 80 Anos ou mais , Intervalo Livre de Doença , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Prognóstico , Taxa de Sobrevida
20.
Rev. Fac. Cienc. Méd. (Quito) ; 22(1): 6-8, dic. 1997.
Artigo em Espanhol | LILACS | ID: lil-235544

RESUMO

Analiza que la disminución de la actividad sexual en la menopausia puede atribuirse a varios factores como los cambios físicos producto del hipoestrogenismo, trastornos de naturaleza física y psíquica, cambios en la respuesta sexual, desinterés y aburrimiento sexual, disfunciones sexuales asociadas y actividades socioculturales. Para abordar la problemática sexual de la menopausia de una forma coherente, es necesario informar a las pacientes de los cambios fisiológicos que esta etapa conlleva, así como suministrar un correcto tratamiento farmacológico, que tienda a aliviar los síntomas ocasionados por el déficit hormonal.


Assuntos
Feminino , Menopausa , Sexualidade , Pacientes
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