[Erythrocyte membrane protein in Duchenne muscular dystrophy (author's transl)].
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Adult↗
Biomedical subjects
R Arteaga
Publications and source records attributed to R Arteaga.
Clinical side effects of phenobarbital, primidone, phenytoin, carbamazepine, and valproate during monotherapy in children.
The rate of onset of side effects was examined in 392 pediatric outpatients who received long-term monotherapy with phenobarbital (PB), primidone (PRM), phenytoin (PHT), carbamazepine (CBZ), or valproate (VPA) for epilepsy or febrile convulsions. The severity of side effects (based on need to alter treatment), the nature of each drug's most common side effects, and the doses and plasma levels of occurrence were recorded. Our results show that usually accepted therapeutic ranges are well tolerated. Indeed, although some form of side effect occurred in 50% of patients, treatment had to be changed in only 18% and the drug had to be stopped in only 7%. In decreasing order, the rates for side effects were PHT (71%) greater than PB (64%) greater than CBZ (43%) greater than VPA (43%) greater than PRM (29%). Serious side effects requiring withdrawal of treatment occurred at the following rates: PHT (10%) greater than VPA (8%) greater than PRM (8%) greater than PB (4%) greater than CBZ (3%). Among our patients, the best tolerated antiepileptic drug (AED) was CBZ, and the least tolerated was PHT. Behavioral disorders were most common with PB, neurologic disorders with PHT, digestive tract disorders with VPA, and gingival hyperplasia and hirsutism with PHT. Behavioral disorders involving excitement seen with PB and PRM occurred most commonly at low plasma levels. Behavioral disorders involving depression seen with PB and VPA, those involving excitement seen with PHT and VPA, and digestive disorders seen with VPA occurred particularly when plasma levels were high.
Adolescent↗
Gamma-vinyl GABA (vigabatrin): relationship between dosage, plasma concentrations, platelet GABA-transaminase inhibition, and seizure reduction in epileptic children.
The relationship between vigabatrin gamma-vinyl GABA (GVG, vigabatrin) daily dosage or steady-state plasma concentrations (CSS), platelet GABA-transaminase (GABA-T) inhibition, and seizure reduction were studied in 16 children with refractory epilepsy. After 2 months of observation and 1 month of single-blind add-on placebo, a fixed GVG dosage was added for 2 months. The dosage was then adjusted in two 2-month periods each, based on the patient's clinical response. In the fixed-dose period, GVG dosages of 56.8 mg/kg/day and CSS of 8.1 mg/L reduced GABA-T activity from 13.9 to 5.1 pmol/min/mg protein (p less than 0.001) and that of seizures from 51.4 to 22.3 seizures per month (p less than 0.01). Seizure reduction was correlated with dosage (r = 0.83, p less than 0.001), but not with CSS or with platelet GABA-T inhibition. After the GVG dose-adjustment periods, in which dosages of 84.4 mg/kg/day and CSS of 10.6 mg/L were reached, only a slight reduction was observed in both GABA-T activity (from 5.1 to 4.9 pmol/min/mg protein) and seizures (from 22.3 to 18.1 seizures per month). In GVG-responsive patients (excluding placebo-sensitive and GVG-resistant patients), a greater reduction of seizures was achieved (from 17.0 to 7.1 seizures per month, p less than 0.05), which was not accompanied by greater inhibition of GABA-T. GVG treatment in children should be started with a dosage of 50 mg/kg/day, increased to 75 or even 100 mg/kg/day when a partial response is observed. If seizures do not improve or if they become worse, the patient should be considered resistant and GVG should be discontinued.
4-Aminobutyrate Transaminase↗
Poor correlation between single-dose data and steady-state kinetics for phenobarbitone, primidone, carbamazepine and sodium valproate in children during monotherapy. Possible reasons for the lack of correlation.
An investigation was performed to determine the relationship between the serum drug concentration/dose ratio at 24 hours following a first dose and that at steady-state for phenobarbitone, primidone (as phenobarbitone and as primidone), carbamazepine and sodium valproate, in order to assess the utility of this method in clinical practice. The drugs were given as monotherapy to 63 children for the treatment of epilepsy or febrile convulsions. The correlation between concentration/dose ratios, instead of between serum concentrations, was investigated with the aim of allowing the use of variable doses. The correlation coefficients were: r = 0.30 for phenobarbitone; r = 0.05 for phenobarbitone derived from primidone; r = 0.38 for primidone; r = 0.19 for carbamazepine; and r = 0.52 for sodium valproate. None of these correlation coefficients differed statistically from 0. These low correlation coefficients contrast with the acceptable results found by other authors for other drugs, indicating that several factors may have a greater influence on this correlation than earlier investigations suggest. The poor correlation obtained emphasises the need for clinical verification of mathematical models based on theoretical considerations which do not always apply in practice.
Age Factors↗
[Rett's syndrome in the Spanish population].
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.
Adolescent↗
[In children with refractory epilepsy: vigabatrin or lamotrigine?].
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.
Adolescent↗
[Vigabatrin and alterations of the visual field].
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.
Adolescent↗
[Long-term efficacy and tolerance of topiramate in 44 children with resistant epilepsy].
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.
Anticonvulsants↗
[The use of intravenous valproate].
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.
Adolescent↗
[About protocols, regulations and guidelines in clinical practice. Spanish Society of Pediatric Neurology].
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.
Clinical Protocols↗
[Hereditary neuropathy with liability to pressure palsies in childhood].
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.
Biopsy↗
[Microcephaly, bilateral corneal opacity and congenital lobar holoprosencephaly with subsequent development of a rhabdomyosarcoma in a patient exposed to prenatal radiation].
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.
Abnormalities, Multiple↗
[Reflex epilepsy from hot water: a new case and review of the literature].
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.
Anticonvulsants↗
[Effectiveness and tolerability of levetiracetam in 43 children and adolescents with epilepsy].
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.
Adolescent↗
[Effectiveness and safety of levetiracetam in 133 children with medication resistant epileptic seizures].
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.
Adolescent↗
[Basic norms for the utilization of phenytoin by intravenous injection].
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Brain↗
[Rectal biopsies from HIV-infected patients].
Rectosigmoidoscopy and rectal biopsies specimens were taken from thirty six HIV infected patients in the Vargas Hospital of Caracas. There were thirty three males and three females. the mean age was thirty two years. Seventy three per cent were homosexuals. The sexual behaviour was the most important risk factor for the infection with the HIV. Forty four per cent of the rectosigmoidoscopies were abnormal, presenting hiperemic or petechiae mucosas. Alterations in rectal biopsies were reported on all specimens, twenty six with inespecific chronic rectitis. Two bipsies reported Kaposi's Sarcoma and eight bipsies demonstrated opportunistic agents.
AIDS-Related Opportunistic Infections↗