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M Pineda

Publications and source records attributed to M Pineda.

123 records · Page 7Linked to original sources
PubMedDate not supplied

[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↗
PubMedDate not supplied

[Ubiquinone: metabolism and functions. Ubiquinone deficiency and its implication in mitochondrial encephalopathies. Treatment with ubiquinone].

OBJECTIVE: Review of ubiquinone-10 metabolism and functions in humans, focusing its implication in the pathogenesis and physiopathology of mitochondrial encephalomyopathies. DEVELOPMENT: Ubiquinone-10 is an endogenously synthesized lipid with a wide distribution in tissues. Tyrosine and acetil-CoA are involved in ubiquinone biosynthesis. This molecule has several biological functions in cells: it is a movil electron carrier in the mitochondrial respiratory chain and also acts as antioxidant. Owing to its implication in these functions, ubiquinone deficiency may cause important deletereous effects in tissues. Several authors reported ubiquinone deficient status in some physiological and pathological conditions. Mitochondrial encephalomyopathies may be related to a primary or secondary ubiquinone deficient status, or even to an altered function of ubiquinone in the respiratory chain. Moreover, some relevant aspects about ubiquinone therapy in mitochondrial disorders are reported. CONCLUSIONS: According to recent reports about ubiquinone implication in several diseases, its determination in different biological samples seems very useful to elucidate the physiopathological mechanisms involved and even the to start a therapy in cases with ubiquinone deficiency.

Acetyl Coenzyme A↗
PubMedDate not supplied

[Risk factors in cerebrovascular disease in childhood].

INTRODUCTION: The etiopathogenesis of cerebrovascular diseases in paediatrics is little known and very varied. Review of the literature gives little practical information about how to investigate a paediatric patient who presents with an acute cerebrovascular illness. OBJECTIVES: To identify the risk factors for cerebrovascular accidents in the paediatric age group in our setting and establish guidelines as to how best to act. PATIENTS AND METHODS: A retrospective study was made of the patients admitted to the Hospital San Joan de Deú in Barcelona between January 1984 and December 1995 with the diagnosis of ischemic or hemorrhagic cerebral infarct. RESULTS: A total of 141 cases were identified. Sixty specific causes (43.7%) were detected, of which cardiopathies made up the biggest etiological group. Risk factors for cerebrovascular disease were found in 66% of the cases. The risk factors most often identified were association with non-specific (22) and specific (varicella: 7 cases) viral infections; moderate dehydration (10); mild head injuries (10) and situations of stress (9). There were prethrombotic factors in 32.8% of the patients and anaemia in 29%. The high percentage of the anti Cytomegalovirus (67.1%) was of doubtful significance, and the percentage rose to 82.8% in the patients who died (29/35). In this study the role of hyperhomo-cysteinemia and resistance to C activated protein could not be assessed. CONCLUSIONS: In this study we identified the risk factors for cerebrovascular disease in the paediatric age group of our population. Stroke in the paediatric age group is probably due to a combination of several risk factors which will need structured protocols for identification. It is important to recognize these causes so as to plan strategies for action during the acute phase and to prevent recurrence, as are currently available to the adult population.

Acute Disease↗
PubMedDate not supplied

[Aspects of neuropathy in mitochondrial diseases].

INTRODUCTION: The existence of neuropathy has been described in mitochondrial disorders such as MELAS, MERRF, Leigh's syndrome, the Kearns-Saye syndrome, myoneurogastro-intestinal encephalopathy and progressive external ophthalmoplegia and constitutes a basic component of the NARP (neuropathy, ataxia and retinosis pigmentosa). However, the general prevalence of the neuropathy and its characteristics within the mitochondrial encephalopathies is not well understood. OBJECTIVES: To characterize the neuropathy and try to establish a genotype-phenotype correlation. PATIENTS AND METHODS: Within study guidelines, we made a retrospective study of 27 patients, diagnosed as having mitochondrial disease, who had had neurophysiological studies (EMG-ENG). In those in whom neuropathy had been found we analysed the clinical, neurophysiological and genetic characteristics. RESULTS: Neuropathy was present in 37% of the patients who had an average age of 13 years, ranging from 1 to 25 years. Syndromic diagnoses were: 7 encephalomyopathies, one MELAS, one MERRF and one NARP. Four of the patients were classified genetically. In all but two of the patients the neuropathy was asymptomatic. The biochemical alterations seen were: deficit of Complex 1 in 3 patients, of complex III in 3 patients, of complex IV in 2 and of pyruvate dehydrogenase in one patient. The type of neuropathy found was varied, with predominance of axonal-type motor neuropathy but no correlation with either biochemical defects or genetic diagnosis. CONCLUSIONS: Neuropathy is a common finding in mitochondrial disorders and probably is under-diagnosed. The axonal form predominates. We have not been able to establish correlations between phenotypes and genotypes.

Adolescent↗
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

[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

[Familiar chronic progressive external ophthalmoplegia of mitochondrial origin].

INTRODUCTION: The syndrome of chronic progressive external ophthalmoplegia (CPEO) is a mitochondrial disease characterized by ptosis and ophthalmoplegia has that has been associated to the presence of large deletion, single or multiple, in the mitochondrial DNA of skeletal muscle. CASE REPORT: We report a familiar case of chronic progressive external ophthalmoplegia of maternal inheritance that began at birth, and developed with slow progression but with no multisystemic involvement. Non of the affected individuals had ragged-red fibers in skeletal muscle. Genetic analysis of mitochondrial DNA revealed the presence of a single deletion of 4,977 bp that encompasses the nucleotide positions 8,482 to 13,460, flanked by a direct repeat sequence. CONCLUSIONS: The amount of deleted mitochondrial DNA (15%) in this patient's muscle suggests, even if the percentage of the mutation is low, that this deletion is the molecular cause of the phenotypic presentation of this patient. This is one of the few cases described in the literature of CPEO maternally inherited.

Adolescent↗
PubMedDate not supplied

[Early onset Neurobehçet's disease].

INTRODUCTION: Behçet's disease is difficult to diagnose in infancy due to the absence of early clinicopathological pathognomonic symptoms. There have been reports of patients in whom the onset of the disease occurred during the first months of their lives. CASE REPORT: We describe here the case of a 12-year-old female from Pakistan whose first symptoms appeared at the age of 6 months in the form of fever and skin lesions. The first neurological symptoms appeared at the age of 5 years in the form of ophthalmoplegia, followed by ataxia and dysmetry. Magnetic resonance imaging of the head was a valuable aid in the study of the vascular alterations. She also presented abdominal pains, arthromyalgia, ulcers in the mouth and severely delayed weight gain. Yet, we were finally guided towards a diagnosis by the appearance of ulcers on the genitals, which do not usually occur until puberty, as well as the findings from the skin biopsy study. The serological study revealed the presence of antigen B08. Establishing therapy with methylprednisolone and later with azathioprine brought about the practically complete remission of the clinical picture. CONCLUSIONS: Behçet's disease, which has been infrequent in our country up till now, is a condition to be taken into account, especially in young female patients from countries with a high incidence rate of oral and genital ulcers, accompanied by neurological symptoms. Knowledge of this syndrome and performing appropriate complementary studies are essential to be able to reach an early diagnosis and for establishing suitable treatment.

Adolescent↗
PubMedDate not supplied

A Golgi study of cerebellar malformation in 13 trisomy.

The structure of cerebellar malformations in the brains of two infants with 13 trisomy has been studied by means of the Golgi method. Poorly organized cerebellar dysplasias (heterotaxias) are composed of Purkinje, Golgi and granule cells arranged and oriented in a disorderly fashion. The variable orientation and organization of the dendritic arbor of Purkinje cells within these cellular aggregates is supposed to be related to abnormal distribution of parallel fibers. Large ganglion cell heterotopias are not a homogeneous group, but two distinct types may be defined. First, Purkinje cell heterotopias which are located in the white matter of the cerebellum below the normally formed folia; these are composed of large neurons with arrested migration to the cortex. Secondly, multipolar cell heterotopias which are located in the deep white matter near the dentate and the roof nuclei, formed of neurons belonging to the deep cerebellar nuclei.

Abnormalities, Multiple↗
PubMedDate not supplied

Purkinje cells in degenerative diseases of the cerebellum and its connections: a Golgi study.

The cellular pathology of Purkinje cells in several degenerative diseases of the cerebellum and its connections was studied with the rapid Golgi method. Purkinje cells from a patient with Creutzfeldt-Jakob disease (case 1) showed decreased numbers of spiny branchlets. In a patient with a cystic infarct of the cerebellar white matter and chronic deafferentation of the cerebellar cortex (case 2) there was a striking increase in the density of spines on the primary dendrites. No abnormalities were observed in Purkinje cells from two patients with hereditary spinocerebellar degeneration (cases 3 and 4). Purkinje cells in two patients with olivopontocerebellar atrophy (OPCA) had severely reduced numbers of dendritic branches. Ballooned proximal axons were found in Purkinje cells with severely damaged dendrites (cases 5 and 6). In contrast to experimental olivary degeneration in laboratory animals, Purkinje cells from patients with OPCA did not have increased numbers of stubby spines in stout proximal dendrites but few spines with long pedicles were observed in the proximal segment of the primary dendrites and in the cellular body.

Adult↗
PubMedDate not supplied

[Kinsbourne's disease. Study of four cases (author's transl)].

Four children who at ages from five months to three years developed an acute (one case), subacute (two cases) and chronic form (one case) clinical picture of ataxia, myoclonus, ocular dyskinesia and behaviour disorder are reported. In one of them there was, in addition mental retardation. Response to treatment with ACTH was successful. Clinical and evolutive characteristics of this process as well as the variety of ocular manifestations are emphasized.

Cerebellar Ataxia↗
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[Hallervorden-Spatz disease: presentation of a new case].

A case of Hallervorden-Spatz's disease is described in a thirteen-year-old patient, with typical case symptoms of pyramidalism, dystonia and regressive motor control, over the last four years. MRI provided a bilateral palidal image in 'tiger eye'. The possible appearance of early forms have been stressed, characterised by a learning delay and a regressive syndrome starting between 5-10 years of age, along with later forms which manifest themselves mainly as Parkinson's disease. The MRI findings are of considerable value when diagnosing 'in vivo'; the pathogeny is not clear, despite current theories.

Basal Ganglia↗