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Biomedical subjects

J M Prats

Publications and source records attributed to J M Prats.

At least 37 records · Page 2Linked to original sources
PubMed1982

[Cerebral arteriovenous malformation (author's transl)].

Three cases of congenital cerebral arteriovenous malformation are presented. They all developed congestive heart failure in the first day of life. The main clinical findings were a continuous murmur heard over the scalp, an ejection murmur at the upper left sternal border, gallop rhythm, cardiomegaly and hepatomegaly. Diagnosis was confirmed in all by carotideal arterography. Two had aneurysm of the vena cerebri interna Galeni and in the other, the aneurysm was localized in the area irrigated by the sylvian artery. The two former died after surgery was considered not feasible. The latter had his malformation resected. Two years after operation he is doing well.

Auscultation↗
PubMed1982

[Combined exchange transfusion and peritoneal dialysis treatment in a neonatal case of methylmalonic acidemia with severe hyperammonemia].

A case of methyl-malonic acidemia with severe neonatal hyperammoniemia is presented. Treatment during the first days of live with exchange-transfusion, with protein-free blood and peritoneal dialysis induced a decrease of blood ammonia values from 1360 to 270 micrograms/dl and the correction of systemic metabolic acidosis. Continuation of treatment by dietary means was followed by normalization of clinical status and almost total correction of the urinary excretion of methyl-malonic and propionic acids, but the patient died at 33 days of life due to an intercurrent infection. This case, together with a case previously reported of propionic acidemia with neonatal hyperammoniemia and prolonged survival, demonstrates that complementary treatment by means of exchange transfusion and peritoneal dialysis is mandatory in all cases of neonatal hyperammoniemia of metabolic origin, since survival without irreversible neurological damage is possible.

Amino Acid Metabolism, Inborn Errors↗
PubMed1980

[Neonatal form of Steinert's congenital dystrophia, myotonica. Diagnosis and outcome in eight cases (author's transl)].

Eight infants with neonatal form of dystrophia myotonica, and the outcome in the follow-up of five survivors, are reported. The disease is frequently overlooked in our country, since rare reports are available. Important findings of our series were increased incidence of obstetric complications and severe neonatal affectation with hypotonia and respiratory distress as well as high mortality and psychomotor handicaps in survivors.

Female↗
PubMed1977

[Thrombosis of intracraneal sinuses in homocystinuria (author's transl)].

The case of a child affected with piridoxinresistant homocystinuria who developed early on the disease an aseptic thrombosis of intracraneal sinuses, of chronic evolution is presented. Pathogenesis and therapy of the thrombosis are discussed emphasizing the value of measures directed to avoid the aggregation of platelets.

Aspirin↗
PubMedDate not supplied

Congenital nuclear syndrome of oculomotor nerve.

A patient is reported who suffered from a fixed, non-progressive encephalopathy caused by a lesion involving the left portion of both the mesencephalon and basal ganglia; the lesion was caused by an acquired prenatal vascular insult. The clinical expression of third cranial nerve palsy corresponds to a nuclear syndrome of the left oculomotor nerve, affecting both eyes asymmetrically, later developing into aberrant reinnervation.

Basal Ganglia↗
PubMedDate not supplied

[Etiology of epilepsy in adolescents].

OBJECTIVE: To review the etiology of epilepsies in adolescent patients treated at the Child Neurology Clinic, during the years 1995-1997. PATIENTS AND METHODS: All 13 years old patients, or older, were selected and considered adolescents. RESULTS AND CONCLUSIONS: A total of 863 patients with epileptic seizures were reviewed. Among them, 225 were epileptic adolescents and another 8 were adolescents with a single seizure or with several seizures clustering into a single event. Among the former, 163 suffered from partial epilepsy and 62 from generalized epilepsy. Partial epilepsies were distributed as: idiopathic (69), remote symptomatic (49) and cryptogenic (45). Generalized epilepsies were: idiopathic (22), cryptogenic (16) and cryptogenic-remote symptomatic (24). The latter included the Lennox-Gastaut syndrome, West syndrome, polymorphic epilepsy, etc. The etiology of these patients and related literature are reviewed in order to study the proper nosologic location of these entities.

Adolescent↗
PubMedDate not supplied

[Profile of the patient who drops out of neuropediatric follow-up].

INTRODUCTION: Patients who drop out of programmed follow-up cause adverse effects to both themselves and the running of the medical. OBJECTIVE: To obtain information which would permit us to modify guidelines for medical care in cases with particular diagnoses, so as to avoid interrupting follow-up. PATIENTS AND METHODS: We selected all the patients who attended during 1995, and on 31 December 1995 had not been discharged or died. We considered a patient to have dropped out of follow-up when there was failure to attend the centre during two consecutive years without a justifiable reason. Logistic regression analysis was used to determine the profile of the patients who dropped out of follow-up. RESULTS: Of the patients attended during one year and whose treatment should have been continued, 16% dropped out; 70% of those who dropped out of their follow-up treatment were somewhat older than the rest and came in particular from two of the five health districts of the province. They had tics, tension headaches and migraine. Only three independent factors are associated with dropping out: absence of complementary tests, which is favorable, and epilepsy or previous long-term follow-up which is unfavorable. CONCLUSION: Reduction in the programmed follow-up of patients with conditions which do not require complementary tests may reduce the drop out rate and improve the functioning of the Neuropaediatric Clinic.

Adolescent↗
PubMedDate not supplied

[Telephone consultation in child neurology practice: quantification and contents].

INTRODUCTION: The workload of telephone consultations has been scarcely studied except at the Emergency Units, in spite of the considerable amount of time consumed by the task in normal practice. OBJECTIVE: To asses the workload of telephone consultations in a Neuropediatric Unit, during normal working hours. METHODS: A prospective analysis of all calls received during a year, at the out-patient hospital-based neuropediatric clinic. RESULTS: 150-200 telephone consultations were received every month, decreasing during the holiday seasons. They amount to two thirds of the face-to-face contacts at the clinic, during the same period of time, and require about 10% of our day-time working hours. Disorders more likely to produce the calls: epilepsy (40%), mental retardation (19%), cerebral palsy (11%), all others with a frequency lower than 5%. These percentages, and those of hydrocephalus, autism and spina bifida, are similar to those encountered in normal practice, while headaches, speech delay, hyperactivity, syncopes, etc. produced half the number of calls expected; myopathies doubled the number of calls expected. The monthly frequency of calls varied significatively, along the year, for epilepsy, mental retardation, hyperactivity, migraine and autism. Calls were made especially by the family (49%), but it depends of the purpose and the patient's diagnosis. The purpose was most frequently to consult about the symptomatology of the illness; treatments produced 7% of calls; and discussion about citations, 19.5%, regardless of the diagnosis. CONCLUSION: In neuropediatric practice, telephone consultations should be recognized and provided for in order to manage effectively the clinical demand.

Child↗
PubMedDate not supplied

[Neuropediatric clinical practice in a tertiary hospital of Basque Country].

INTRODUCTION: In our country, studies on the neuropediatric practice are scarce, in spite of their importance for planning of spending and resources, and definition of quality criteria. OBJECTIVE: To study the clinical workload of the main neuropediatric clinical problems. METHODS: Prospective, longitudinal, descriptive study of doctor-patient encounters, according to diagnosis, in the Child Neurology Division of a tertiaty hospital. RESULTS: 3,200 visits, of which 83% were ambulatory. 24 ambulatory visits per 1,000 inhabitants younger than 15 years, and year. Diagnosis demanding larger clinical activity for out-patients were: epilepsy/seizures (38%), mental retardation (17%), headaches (17%), hyperactivity/conduct disorders (12%), and cerebral palsy/permanent motor sequela (10%). Among in-patients: epilepsy/seizures (47%), mental retardation (10%), brain tumors/neurological complications of oncology disorders (8%), cerebral palsy/motor sequela (8%), and neurological complications of prematurity (7%). Among new out-patients, headaches is the most frequent diagnosis, followed by epilepsy; among new in-patients, epilepsy holds the first place, followed by neurological complications of prematurity and brain trauma. The index follow-up/first visit is much larger for the real neurologic patient than for functional disorders so frequent among new referrals. CONCLUSIONS: The neuropediatric practice comprises essentially epilepsy, cognitive and conduct disorders, and headaches. Unfortunately, our practice is in part being defined by the pressure exerted by the primary medical care and by hospital management practices.

Adolescent↗
PubMedDate not supplied

[Long-term follow-up of childhood epilepsy treated with vigabatrin outside of clinical trials].

INTRODUCTION: Experimental conditions are not mirrored by clinical practice. OBJECTIVE: To study the efficacy of vigabatrin in the usual conditions of everyday clinical practice. PATIENTS AND METHODS: Retrospective review of all epileptic patients treated with vigabatrin in a neuropediatric outpatient clinic. OUTCOME MEASURES: a) Persistent seizure frequency reduction > or = 50%, and total control of seizures. Potential predictors of response were studied by logistic regression. b) Duration of VGB therapy, studied by the Kaplan-Meier method and its associated log-rank test. RESULTS: 113 patients with: partial symptomatic epilepsy (38%), partial cryptogenic (25.6%), partial idiopathic (6%), West syndrome (14%), Lennox-Gastaut syndrome (6%), other syndromes (9.7%). Reduction of seizure frequency was attained by 60% of patients at 3 months, sustained during 12 months by 40%, and during 5 years by 14%. Total control of seizures was present in 33% of patients at 3 months, persisted 12 months in 18% and 5 years in 2%. Independent predictors of a poor outcome were generalized seizures (except infantile spasms) and cerebral palsy, among others. The probability of continuing vigabatrin (VGB) therapy was 78% at 6 months, 55% at 2 years and 32% at 5 years. Duration of therapy was modified by early therapeutic response and antecedent of status epilepticus, among others. Adverse events were recorded in 18.5%. Visual fields were not studied in these series. CONCLUSIONS: For the time being, VGB-treated patients belong to the difficult-to-treat group. Percentages of responders depend upon duration of follow-up.

Adolescent↗
PubMedDate not supplied

[Opercular epileptic syndrome: an unusual form of benign partial epilepsy in childhood].

INTRODUCTION: Functional opercular syndrome in childhood is an exceptional form of presentation of benign partial epilepsy with centro-temporal rolandic spikes (BECRS). CLINICAL CASES: We studied the evolution of four patients, three of them followed for more than 15 years. Two were siblings, and their father suffered from BECRS with permanent language problems (verbal dyspraxia) and difficulty of protunding his tongue in adulthood. A third patient suffered benign familial neonatal convulsions (BFNC). In all four patients the actual illness begun as a BECRS with opercular troubles as an ictal phenomena. At about four years of age, the opercular disfunction became evident, with severe drooling, facial hypomobility and speech disturbance which waxed and vanished along weeks, months or years, apparently not ictal. Antiepileptic drugs not only were unable to control this situation but also, some of them, like carbamazepine, even worsened the opercular disfunction, increased the number of seizures and enhanced the neuropsychologic disfunction. Only clobazam could achieve the control on opercular disfunction. After 16 years, no further treatment was needed for all patients. There were some permanent sequelae, as speech and orolingual dyspraxia and different neuropsychologic problems. CONCLUSION: Of noteworth the best performance was attained by the patient treated with clobazam on monotherapy.

Adolescent↗
PubMedDate not supplied

[The efficacy of lamotrigine in refractory infantile epilepsy].

INTRODUCTION: The new antiepileptic drugs should also be evaluated outside clinical trials. OBJECTIVE: To study the efficacy of treatment with lamotrigine in everyday neuropaediatric clinical practice. PATIENTS AND METHODS: We made a longitudinal study of all patients treated with lamotrigine in a hospital outpatients department. The efficacy was evaluated by: 1. The number of patients showing partial response (>/=50% reduction in seizures as compared to the basal rate), and total response maintained throughout the follow up period. 2. Duration of treatment, studied using the Kaplan Meier method. RESULTS: 80 patients treated with LTG had as the aetiology of their seizures: idiopathic 3.7%, cryptogenic (51.3%) and symptomatic (45%). We found there to be partial control during the first three months of treatment in 60.8% of the patients, which was maintained after 12 months in 43.1%, and after three years in 30.7%. Total control of the seizures after three months was found in 14.8%, after twelve months in 9.8% and after three years in 3.8%. The probability of treatment with lamotrigine being maintained for six months was 86%, for twelve months 61% and for three years 31%. Lamotrigine was suspended in 38 patients (47.5%). Side effects were reported in five cases. CONCLUSIONS: In clinical practice, the therapeutic effect not only consists of the percentage of patients who respond to treatment, but also the length of time this response is maintained. In our study, both measurements of effect showed results similar to those with classical antiepileptic drugs.

Anorexia↗
PubMedDate not supplied

[Congenital atonic-sclerotic muscular dystrophy (Ullrich disease)].

A case of congenital atonic-sclerotic muscular dystrophy is described, with a combination of proximal joint rigidity and distal hypotonia and hyperextensibility, besides torticollis and kyphoscoliosis. These severe congenital defects usually prevent walking and are followed by chronic respiratory insufficiency, with a fatal outcome in the long term. An autosomal recessive type of heredity is implied. There is not sensory or intellectual impairment, therefore it can be distinguished from other congenital muscular dystrophies, that usually have CNS abnormalities associated.

Follow-Up Studies↗