Search PubMed⌕ Search

Biomedical subjects

A Sans

Publications and source records attributed to A Sans.

135 records · Page 8Linked to original sources
PubMedDate not supplied

Postnatal development of vestibular receptor surfaces in the rat.

The development of vestibular receptor surfaces was studied during the postnatal period in the rat on the 1st, 7th, 13th, 32nd and 75th days after birth. Cristae and utricles increase and change their shapes, up to day 13 for the cristae and day 32 for the utricles. Cristae hair bundles are less developed than those of the utricles on the 1st day after birth, with evidence of ciliogenesis being present in the cristae. There is an increase in hair bundle length in both organs that appears complete by the 32nd day after birth. These results are discussed in relation to the ultrastructural and electrophysiological studies concerning the postnatal maturation of the vestibular receptors.

Animals↗
PubMedDate not supplied

[Mitochondrial encephalomyelitis, lactic acidosis and cerebrovascular accidents (MELAS) in pediatric age with the A3243G mutation in the tRNALeu(UUR) gene of mitochondrial DNA].

OBJECTIVES: To evaluate three patients with the mitochondrial encephalopathy, lactic acidosis and cerebrovascular accident syndrome (MELAS) diagnosed in childhood, with particular reference to the initial symptoms and clinical evolution during the first stage at a pediatric age, and to compare them with other studies on the subject. PATIENTS AND METHODS: Two boys and a girl of 10, 11 and 13 years had tests on lactate, pyruvate and aminoacids in biological fluids under basal conditions and also functional tests and enzyme activity assay of the mitochondrial respiratory chain of a muscle biopsy. We also analysed the particular DNA mutations related to MELAS in different tissues from these patients and in lymphocytes from members of the mothers' families who could be tested. RESULTS: The patients fulfilled the clinical criteria for the MELAS syndrome. Neuroimaging showed cerebrovascular accidents. Neurophysiological studies showed myopathy in one patient and neuroaxonal neuropathy in another. In two cases ophthalmological study showed retinitis pigmentaria and during cerebrovascular accidents transient phenomena of homonymous hemianopsia and cortical blindness were seen. In all patients muscle biopsy showed ragged red fibres and the biochemical study showed an enzyme deficit in the respiratory mitochondrial chain. On molecular genetic study of the mitochondrial DNA (mtDNA) there was a particular mutation A3243G on the tRNA(Leu) in all patients and some members of the mothers' families. CONCLUSIONS: In children with frequent episodes of migraine headaches, vomiting, refractory epilepsy and fatigue the presence of a mitochondrial disease should be suspected. On detection of mtDNA mutations MELAS may be diagnosed even without all the clinical criteria which characterise this syndrome.

Child↗
PubMedDate not supplied

[A ketogenic diet: is this a valid alternative in refractory epilepsy].

INTRODUCTION: The ketogenic diet was first used in refractory epilepsy of childhood in the early 1920s. It was forgotten when new antiepileptic drugs were introduced, but recently has been used again. Although its efficacy in the treatment of epilepsy, in some patients, is beyond doubt, its mechanism of action is still not clear. There are three types of diet: the classical diet with a proportion of 4:1 of long chain fatty acids, with MCT oil and with modified MCT oil. OBJECTIVE: To present a protocol recently designed in our hospital. We include the type of diet, form of onset, subsequent follow up of complications, clinical and electroencephalographic response and side effects seen in the patients. PATIENTS AND METHODS: Introduction of the ketogenic diet with MCT oil in six patients aged between 2 and 11 years, with various types of epilepsy, all resistant to treatment, who had been unsuccessfully treated for 28 months in one case and between 4 and 6 months in the others. We evaluated the response on the criteria of Huttenlocher and Panic electroencephalograms. RESULTS: Two of the patients improved with good control of their disorder and the EEG became normal. No serious side effects were seen apart from gastrointestinal symptoms which improved when the quantity of MCT oil was reduced. CONCLUSIONS: In patients with drug resistant epilepsy it is convenient to have a guideline for treatment using a ketogenic diet. It is also useful to have a multi disciplinary team for management, follow up to detect late side effects and obtain the cooperation of the patient s family in following the protocol.

Child↗
PubMedDate not supplied

[The contribution of the cerebellum to cognitive function in childhood].

INTRODUCTION: Cerebellum traditionally has been considered as a neural structure dedicated to motor control. Published studies in the last decades suggest that the cerebellum has an important role in behaviour and cognition specially in paediatric age. OBJECTIVE: We review the cerebellum role in cognitive function in developmental and acquired cerebellar pathology.

Brain Diseases↗
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

[Growth charts for the Spanish population with neurofibromatosis type 1].

OBJECTIVE: To make the charts of stature and head circumference of Spanish pediatric patients affected with neurofibromatosis type 1 (NF1), to compare them with the ones from a healthy population and to review the possible causes of its alterations. PATIENTS AND METHODS: We obtained the data from 251 Spanish patients (122 women and 129 men) with NF1 seen in seven hospitals between the years 2000 and 2002, with ages between 1 month and 18 years old. The calculation of the 50th centile or median was done using the method of mobile variables, and the 3rd and 97th centiles where calculated from this median. RESULTS: Girls with NF1 have a shorter stature than the healthy ones, which becomes evident after 10 years of age. We have not found differences in the stature between boys with the disease and those without it. In regards to head circumference, in boys and girls we have observed that it is bigger throughout life in patients affected with NF1, and that the 50th centile of healthy people correlates with the 3rd centile of those affected, the 97th centile of the healthy ones with the 50th centile of those affected, being the 3rd centile of the healthy people well below the 3rd centile of the affected ones, and the 97th centile of the affected ones well above the 97th of the healthy people. CONCLUSIONS: The short stature in postpuberal girls and the macrocephaly in both sexes at all ages, are primary characteristics in the NF1 and they are not usually related with other alterations, although they are not specific for this illness.

Adolescent↗
PubMedDate not supplied

[Retrospective diagnosis of congenital infection by cytomegalovirus in the case of one infant].

INTRODUCTION: 10-15% of asymptomatic congenital infections by cytomegalovirus (CMV) in the neonatal period develop persistent problems with varying degrees of severity, fundamentally involving neurological disorders, neurosensory hypoacusis and hypovision, which appear from the age of 6-9 months onwards, when a diagnosis is no longer possible. The PCR (polymerase chain reaction) technique can detect DNA of CMV in blood samples on filter paper used for screening hypothyroidism and metabolic pathologies that were kept from the neonatal period. CASE REPORT: A child aged 3 years and 8 months with delayed intrauterine growth, autism, mental retardation, microcephalus and neurosensory hypoacusis; periventricular calcifications, leukoencephalopathy and bilateral malformation of the temporal lobe; and a diagnosis of congenital CMV confirmed by detection of DNA by PCR in the blood sample on filter paper saved from the neonatal period. CONCLUSIONS: The retrospective study of congenital infection by CMV should be considered when faced with severity and varying association of delayed intrauterine growth, microcephalus, neurosensory hypoacusis, chorioretinitis, mental retardation, autism or other behavioural disorders, intracranial calcifications, encephaloclastic alterations, leukoencephalopathy, cortical dysplasia and malformations of the temporal lobe and the hippocampus. Since the filter papers from neonatal screening are not kept for ever, perhaps the idea of doing so ought to be considered, given the possibilities they offer for retrospective studies.

Child, Preschool↗