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Biomedical subjects

J R Ricoy-Campo

Publications and source records attributed to J R Ricoy-Campo.

7 recordsLinked to original sources
PubMed1979

Myotonic dystrophy associated with thyroid disease.

Two patients with hereditary, clinical, electromyographical and histological data typical of myotonic dystrophy are discussed. In both there was a thyroid disorder. The first patient had primary hypothyroidism, and the second a non-toxic multinodular goiter which necessitated total thyroidectomy. The EMG findings and the muscle histopathology of both patients are commented on and compared with the changes described in hypothyroidism. The disease processes in both patients are also discussed in relation to the muscle and metabolic changes described in myotonic dystrophy. The coexistence of these two diseases is not explicable in the light of present knowledge on the basis of a known genetic predisposition. Only two similar cases of myotonic dystrophy and hypothyroidism have been reported.

Adult↗
PubMedDate not supplied

[Mitochondriopathies].

AIMS: The purpose of this study is to review different aspects of mitochondrial myopathies. DEVELOPMENT: Mitochondrial DNA is different to that found in the nucleus and is generally inherited through the mother. There are from 2 to 10 copies per mitochondrion and hundreds or thousands of mitochondria per cell. It contains 37 genes. The oxidative phosphorylation system consists of five enzymatic complexes. Mitochondrial diseases can affect many organs but somewhat more frequent in tissues that are physiologically more demanding as regards oxidative phosphorylation, such as the nervous system, the heart and skeletal muscle. Diagnosis of mitochondrial disease is performed by studying skeletal muscle because it is easily accessible and because of its dependence on oxidative metabolism; moreover, deficits in the respiratory chain are often not expressed in cultivated fibroblasts. CONCLUSIONS: The bioptic muscle specimen must be frozen using isopentane for later histochemical examination. For study under the electron microscope, a small sample must be set in glutaraldehyde or a similar fixative. A 150 mg (5 mm3) fragment which has been frozen without isopentane should be used for the study of the respiratory chain, although fresh muscle tissue is needed for the examination of the complex V. About 50 mg of frozen tissue are required for the study of the mitochondrial mutations.

Biopsy↗
PubMedDate not supplied

[Congenital myopathies].

INTRODUCTION: Congenital myopathies include many genetically distinct diseases which have in common the early appearance of symptoms and characteristic morphological findings. AIM: To resume clinical, pathological and genetic findings of the most frequent myopathies in this group. DEVELOPMENT: The most severe of these group is myotubular myopathy; affected boys die frequently in the neonatal period due to respiratory failure. The altered protein, myotubularin, is involved in the metabolism of PI3P. The gene mutated is in Xq28 and more than 140 different mutations have been reported. Centronuclear myopathy is a genetically heterogeneous group, most frequently recessive but sometimes dominant and with a variable clinical course; childhood and adolescent cases usually present facial weakness and ophthalmoplegia together with proximal weakness, while adult forms show symptoms similar to limb girdle dystrophies. The protein responsible of the disease as well as the genetic locus involved are still unknown. Central core disease (CCD) is a scarcely progressive disease frequently associated with skeletal malformations. The inheritance is usually dominant. CCD has an important association with malignant hyperthermia and both diseases share the same gene in 19q13, locus of the RYR1 gene which encodes the ryanodine receptor. Minicore myopathy is a recessive disorder which shows four different phenotypes, the most frequent being the 'classical' one, with axial weakness, scoliosis and severe respiratory insufficiency; some of these cases have mutations in the selenoprotein N gene. Other phenotype with slowly progressive weakness and hand atrophy has a homozygous mutation in the RYR1 gene. Nemaline myopathy shows four different clinical and genetic types according to the age of beginning of symptoms and the type of inheritance. Several different genes have been identified: TPM3 in 1q21, NEB in 2q21 22, ACTA1, TPM2 and TNNT1.

Chromosomes, Human, X↗
PubMedDate not supplied

[Adult-onset subacute sclerosing panencephalitis: clinicopathological findings].

INTRODUCTION: Subacute sclerosing panencephalitis is a disease affecting the central nervous system that is produced by persistent infection by a defective measles virus. This disease is very infrequent and its incidence has gone down even further in western countries since the introduction of generalised measles vaccinations. Onset of the disease is usually during infancy or adolescence. Reports of cases beginning during adulthood are scarce. CASE REPORT: We describe the case of a 30-year-old female with a slowly progressive subacute clinical picture consisting in behavioural disorders, with defrontalisation, cortico-subcortical cognitive impairment, long tract signs and visual disorders, which led the patient into a vegetative state. Four years after the onset of symptoms the patient died. The different electroencephalogram recordings performed did not show any periodic activity and magnetic resonance imaging of the head revealed cerebral atrophy with hyperintense lesions in T2 sequences in white matter. The histological study of the brain showed a chronic inflammatory infiltration with neuronal loss and demyelination, as well as intranuclear inclusions and neurofibrillary degeneration. CONCLUSIONS: The appearance of subacute sclerosing panencephalitis in adulthood is exceptional. Diagnosis requires a high degree of clinical suspicion, above all in the absence of typical symptoms, such as myoclonias or periodic complexes in EEG recordings.

Adult↗
PubMedDate not supplied

[Parkinsonism and Camptocormia with focal spinal myopathy: case report and responsiveness to treatment].

INTRODUCTION: Camptocormia is characterised by extreme flexion of the thoracolumbar spine. It suffered an increase during walking and it is relieved in supine position. Camptocormia has been described in psychogenic disorders, but in other diseases, including Parkinson's disease as well. It has been recently described several cases with focal spinal myopathy, and we present a patient with this clinical association. CASE REPORT: This 82-year-old man had a 6-year history of parkinsonian symptoms, mostly of rigid-akinetic type. He was in stage 4 on Hoehn & Yahr scale, and he had reached 62 points on Unified Parkinson Disease Rating Scale. Over the past 6-8 months, he developed progressive forward flexion of the trunk with clinical features of camptocormia. He suffered flogotic symptoms and signs on her lower back, and there were no dystonic posture or clinical features. Lumbar computerised tomography showed fat replacement of the paravertebral L3 muscles. A surgical paravertebral muscle examination and biopsy were performed, showing diffuse fat replacement and only a marginal myopathic focus. It was made several therapeutic approaches, with levodopa dose increase, reduction, fractioning, and addition of dopa-agonists. All of these strategies failed. It was determined to try a steroid course, but there were no improvement, so physiotherapy and rehabilitation measures did. He finally was confined to wheelchair. CONCLUSIONS: Physiopathologic and therapeutic aspects of camptocormia in Parkinson's disease are unclear. Their relationship could be casual or causal. Patients with clear inflammatory myopathy could benefit from steroid therapy, but patients with end-stage myopathy probably do not so.

Aged, 80 and over↗