Biomedical subjects

P Póo

Publications and source records attributed to P Póo.

11 recordsLinked to original sources

PubMed2002

[Visuo-constructive disorders in periventricular leukomalacia].

INTRODUCTION: Cerebral palsy involves not only motor impairment but also the impairment of cognitive functions. Visuo spatial impairment has often been reported in preterm children with spastic diplegia due to periventricular leukomalacia. PATIENTS AND METHODS: Eight children with periventricular leukomalacia diagnosis. When examined their ages were between 3 and 13 years. RESULTS: We found visuo spatial anomalies in all subjects. These anomalies don't result in reading and writing learning difficulties. CONCLUSION: Constructional dyspraxia is frequently found in children with periventricular leukomalacia and correlates with reduction of peritrigonal white matter in parietal lobe.

Adolescent↗

PubMed1997

Tocopherol in inborn errors of intermediary metabolism.

Red blood cell tocopherol was measured in a group of 92 children with inborn errors of intermediary metabolism to evaluate the peroxidative damage in different mitochondrial and cytosolic defects, and to consider the need for treatment or vitamin supplementation. Tocopherol was determined by HPLC with UV detection. Results were expressed in nanomoles red blood cell tocopherol per gram protein. Significant differences (Mann-Whitney; P < 0.001) were found between tocopherol levels in untreated patients: 19 with mitochondrial defects versus 23 with cytosolic enzyme or transport defects, and versus 58 age-matched reference values. In conclusion, mitochondrial enzyme deficiencies, either amino and organic acidurias or defects of energy metabolism, seem to produce an excess of free radicals with the consequent utilization of tocopherol as antioxidant. This is not apparent in the cytosolic enzyme defects studied, whose tocopherol levels are in the normal range. Treatment with tocopherol completely corrects the deficient antioxidant status.

Adolescent↗

PubMed1996

[Ataxia telangiectasia: review of 13 new cases].

We report the review of 13 patients who were diagnosed of ataxia telangiectasia before 6 years of age. All of them manifested cerebelous ataxia, oculocutaneus telangiectasias (11), sinopulmonary infections (9), dystonia (9), oculomotor apraxia (9) and Burkitt linfoma (1). We analyse the most common presentation of the disease in early stages and the complementary studies performed. The prompt diagnosis allow us a better control of infections, malignant process and finally the possibility of genetic counseling.

Adolescent↗

PubMedDate not supplied

[Cerebellar hemorrhage in full-term newborn babies].

INTRODUCTION: Cerebellar hemorrhage (CH) has been observed in 5 to 10% of the autopsies done on newborn babies. Since neuroimaging techniques have become available it is easier to diagnose the condition. In this paper we report on a series of cases of CH in full-term newborn babies. OBJECTIVES: To determine the number of patients with CH diagnosed by neuroimaging, make a descriptive study and analyze their progress. RESULTS: Between 1984 and 1999 six patients had CH, three boys and three girls, five born after their mother's first pregnancy. Four were vaginal births; in two forceps were used and in one a vacuum extractor; two were born by cesarean section. Four showed symptoms within the first 48 hours of life, one on the fourth day and one on the twenty fifth day. The latter had hemorrhagic disease of the newborn. In five patients transfontanellar ultrasound was useful in diagnosis. In all six cases computerized axial tomography scan confirmed the diagnosis. Cerebral magnetic resonance (MR) was done in three cases. No arteriovenous malformations were shown on angio-MR. Two patients had hydrocephalus and both were treated by ventriculo-peritoneal shunts. Three cases had transient ventricular dilatation which improved with medical treatment. The patient with hemorrhagic disease of the newborn had alterations in blood clotting. In three patients metabolic studies were normal. Five patients were treated conservatively and only one neurosurgically. Subsequent evolution was characterized by the presence of psychomotor retardation with mild cerebellar signs. At school age, only observed in two cases, there were learning difficulties with a low intellectual coefficient and problems with reading and writing. In one case there was epilepsy, controlled by use of two antiepileptic drugs. CONCLUSIONS: Half the cases of CH transfontanellar ultrasound is useful in diagnosis. Most patients were managed conservatively. During the clinical course there were psychomotor retardation, cerebellar signs, cognitive deficits with learning problems and epilepsy.

Brain Damage, Chronic↗

PubMedDate not supplied

[Magnetic Resonance in children with dyskinetic cerebral palsy secondary to perinatal injury].

INTRODUCTION: The incidence of perinatal factors in the dyskinetic cerebral palsy (DCP) is high. The introduction of the magnetic resonance (MR) has improved our understanding of the pathophysiology and early diagnosis of injury. OBJECTIVE: Review the clinical characteristics of a group of patients with DCP and the appearance of their MR. PATIENTS AND METHODS: Retrospective study of 20 patients with DCP from 37 weeks of gestational age and perinatal injury with MR done. RESULTS: The perinatal injury was: fetal distress (15 cases), severe hyperbilirubinaemia (1 case) and neurological symptoms of unknown origin (3 cases). From the 15 patients with fetal distress, 10 had clinical manifestations of neonatal hypoxia ischemia. The rest were clinical healthy. Seventeen patients had abnormal MR. Four of these had fetal distress without neonatal clinical manifestations. MR findings show high intensity areas on T2 weighted images in the nucleus thalamus in 6 cases, putamen in 4, thalamus and putamen in 1, thalamus and pallidus in 2, thalamus and lenticular in 3 and in the lenticular alone in one case. In 5 cases hipointensity areas on T1 weighted images at the same sites were identified and in 1 case prolongation of T1. In the child whose CDP was caused by severe hyperbilirubinaemia the MR was normal. CONCLUSIONS: The fetal distress occurring late in labour without neonatal hipoxic ischemic manifestations can precede the developmental of DCP. Our observations support that in CDP resulting from perinatal injury the MR shows characteristic focal abnormalities in the basal ganglia (putamen and thalamus).

Birth Injuries↗

PubMedDate not supplied

[Angelman syndrome: physical characteristics and behavioural phenotype in 37 patients with confirmed genetic diagnosis].

INTRODUCTION: Angelman syndrome (AS) is characterised by mental retardation, ataxic gait, epilepsy, absence of language and a special series of physical traits behavioural phenotype. Its incidence is estimated as one in every 20,000 individuals. On the basis of discoveries made in molecular biology, patients can be classified as belonging to five types: deletion, paternal uniparental disomy (UPD), imprinting defects, mutation of the UBE3A ubiquitin protein ligase gene and unidentified mechanism (15% 20% of patients). Some studies report significant correlations between the phenotype and the genetic cause. PATIENTS AND METHODS: We reviewed, retrospectively, 37 patients suffering from AS with a positive genetic study and who had been controlled for at least two years in the Neurological Service at the Hospital Sant Joan de D u. Data was collected on physical characteristics, behavioural phenotype, type of communication, sleep disorders and the medication they needed, as well as epilepsy, start age, types of seizures, medication, schooling and social integration. RESULTS: 87% of cases were due to de novo deletion, 8% were caused by UPD, and 5% had their origins in imprinting defects. The average age of diagnosis was 6.5 years. The sleep disorders present in 48% of the patients required medication in 67% of cases, and 95% presented epilepsy. The most frequent seizures were myoclonic, tonic clonic and atonic. The electroencephalogram (EEG) was the characteristic found in the AS in 68%. The most effective treatment was afforded by valproate and clonazepam. CONCLUSIONS: As regards the phenotype, no differences were found according to the genetic alteration. The most effective treatment for the sleep disorders was melatonin. Epilepsy was an almost constant finding in our series, as was cognitive affectation. Lastly, it must be pointed out that educational and socio occupational integration is difficult for patients suffering from AS.

Adolescent↗

PubMedDate not supplied

[Botulinum toxin Type A. Indications and results].

INTRODUCTION: Since introduction for clinical in the 80s, the botulinum toxin type A is being used with effectiveness in the treatment of different disorders that goes with exaggerated muscular activity. Numerous studies have been demonstrated useful for focal treatment of spasticity. PATIENTS AND METHODS: Some indications of the botulinum toxin type A for the treatment of the cerebral palsy are reviewed, emphasizing that it use must be in a global planning. The positive results and adverse events are reviewed, of a series of 278 patients with spastic cerebral palsy. RESULTS: 19% of these patients have had a slightly positive answer, with modification of the tone but without functional repercussion, 49% have had a moderate answer, 17.5% have a good improvement and a 5% have presented good improvement for a long time. Of 224 patients with more than a year of evolution, the 9.5% have presented adverse reactions, but they have always been slight and transient. CONCLUSION: The botulinum toxin type A can be considered effective and safe for the treatment of spasticity, whenever the indication is correct and it is accompanied by a treatment of physiotherapy well oriented.

Botulinum Toxins, Type A↗

PubMedDate not supplied

[Course and treatment of progressive subacute encephalopathy caused by human immunodeficiency virus in children. The value of Botulinum toxin].

INTRODUCTION: Progressive subacute encephalopathy due to human immunodeficiency virus (PSE-HIV) is an important cause of morbidity and mortality in perinatal HIV infection. Although current combined antiretroviral therapies do manage to check its progression, they often give rise to severe motor sequelae that are similar to the spastic infantile cerebral palsy resulting from other aetiologies. We present the case reports of four preschool age children suffering from this pathology who have benefited from long term treatment with botulinum toxin type A (BTA). CASE REPORTS: Four patients suffering from early onset PSE HIV, who responded well to combined antiviral therapies, and who had severe motor sequelae (two cases of tetraparesis and two spastic dysplegias), with no cognitive disorders. The multidisciplinary treatment of their motor disorder included six monthly sessions of muscular injections of BTA in the usual doses, with good results from the functional point of view and with no significant side effects. DISCUSSION: PSE-HIV is defined by one of the following criteria: acquired microcephalus, retarded neurological development or symmetrical motor involvement. It constitutes one of the most frequent diagnostic criteria of AIDS in patients infected by vertical transmission. An early diagnosis and treatment are fundamental for the patient's prognosis. Severe motor sequelae in the form of spastic infantile cerebral palsy are frequent. In our experience treatment of the spasticity associated to this entity with BTA has proved to be useful and safe, with a clear improvement in gait functionality.

AIDS Dementia Complex↗

PubMedDate not supplied

[Guidelines for the treatment of spasticity in adults using Botulinum toxin].

AIMS: The introduction of Botulinum toxin type A (BTA) in the treatment of spasticity in adults was a large step forward in neurology and it is currently seen as the first choice treatment in focal spasticity. In an attempt to achieve the optimisation of this therapeutic resource, different clinical guidelines have been drawn up which include reviews of the evidence available about the indications and use of BTA. Spasticity is characterised by the presence of involuntary muscular hyperactivity that is often associated to pain, deformity and functional disability. From the clinical point of view, the advantages of BTA are obvious (ease of use and dosage determination, long lasting effects, reversibility should the response be inappropriate, etc.) and far outweigh its drawbacks. It can only be used after a proper selection of patients, of the therapeutic aims and of the muscular areas to be treated, and a tailor-made programme of rehabilitation must also be drawn up. Increasing experience in its use suggests that its early administration is effective in preventing or reducing the complications arising from spasticity. CONCLUSIONS: BTA is effective in the treatment of spasticity and plays a significant role if the clinical objectives involve functional aspects. At present a large amount of well-documented experience concerning its indications, effects and safety in clinical practice is already available.

Adult↗

PubMedDate not supplied

[Infantile spasms in children with Down's syndrome].

Two hundred eighty six infants with Down syndrome have been studied. Infantile spasms have been identified in nine of them, in which background, EEG pattern and its evolution, modalities of treatment and its effects, neuroimaging and development course have been revised. None of these patients had either familiar or personal pathological antecedents. The pattern in the first EEG made was hypsarrhytmic in all cases except one which showed a multifocal paroxystical activity, with intermittent and bilateral bursts of spike-waves. The treatment first used was ACTH in four cases, valproate in three cases and phenobarbital in two cases (one of these associated with nitrazepam). The ACTH treatment was effective in seven infants, either was the first or the second choice. An infant in whom the first treatment with ACTH was not successful, responded to the association with valproate+clonazepam. One patient treated initially with phenobarbital+nitrazepam, having no response to different prescriptions, responded finally to the association of carbamacepin+vigabatrin. The first treatment with valproate or phenobarbital had no effect in all patients. The EEG pattern improved in all cases just after the treatment response. Normal tracing was found for a period of two months to three years. Cranial TC was performed to three infants showing one of them a discrete ventricular dilatation and periventricular calcifications that suggested tuberous sclerosis. It is important to point out that, although the good effect of therapy and EEG pattern normalization, the development is below what had been expected in children with Down syndrome. Behavioral problems have been found in seven (77.7%) of these children.(ABSTRACT TRUNCATED AT 250 WORDS)

Adrenocorticotropic Hormone↗

PubMedDate not supplied

[Neurological development of very low birth weight infants (<1,501 gr) at two ears of age].

The aim of this study is to analyse different aspects of the psychomotor development, during the first two years of the life, of 56 very low birth weight newborns (less of 1.501 g) that had completed a follow-up program. Of the results we have got, the most important are the following: 4 observations (7%) presented severe sequelae motor disability in a tetraparesis with sensorial defects in 3 of them and behavior disturbance (psychosis) with visual defect in the rest. Three observations (5.3%) presented moderate sequelae: all of them with motor disability (hemi- or tetraparesis) and cognitive deficiency. Me have to point out that in the two groups described above, the pathological signs were detected before the age of 6 months. Nine observations (16%) presented mild sequelae dominating language delayed (7% of whole sample) and transient abnormalities in 7 of them (12.5%). In the subgroup of small for gestational age newborns (21 observations), 28.5% presented mild sequelae, 14% transient abnormalities and no one presented severe or moderate sequelae. Although a long term follow-up is necessary in order to detect learning, cognitive, or behavior disturbances, that can just become evident later, we think that the attention of the deviations of the normality during the two first years of the life, would warn about possible future disturbances.

Child Behavior Disorders↗