Biomedical subjects

R Erazo-Torricelli

Publications and source records attributed to R Erazo-Torricelli.

3 recordsLinked to original sources

PubMed2006

[Acute disseminated encephalomyelitis in children].

AIM: Acute disseminated encephalomyelitis (ADEM) is an immune-mediated inflammatory-demyelinating disease, which usually follows an infection or vaccination. It is more frequent in children. In this paper, I will review clinical, diagnosis, treatment, and prognosis data, based on last 10 years papers, including our experience with 42 patients studied at Calvo Mackenna Hospital and German Clinic of Santiago de Chile, Chile. DEVELOPMENT: ADEM symptoms present 2 to 30 days after viral or bacterial infection. There is a slight male predominance (1,3:1). The clinical picture is characterized by multiple symptoms. Prominent findings are altered level of consciousness in 50-60% of patients, and motor system dysfunction in 80-90%. Spinal cord dysfunction occurs in 20-25% of children. Optic neuritis (10-20%) is usually bilateral. Magnetic resonance imaging is the gold standard to detect typical white matter lesions, which suggest ADEM diagnosis, but a clinico-neuroimaging gap may occurs. Steroids are the first choice for treatment. In practice, they seem to be useful in up to 90% of patients. Recurrences occur in 10-30% of cases, and raise a differential diagnosis with multiple sclerosis. Mortality is as low as 0-7%. Sequelae are seen in 10-20% of patients. CONCLUSIONS: ADEM is a demyelinating condition, usually with a monophasic course and good outcome. The only way to confirm a definite diagnosis is long-term follow-up.

Child↗

PubMedDate not supplied

[Neonatal hypotonia].

INTRODUCTION: Neonatal hypotonia is a condition which appears to expand continually. Since the 1980s new clinical disorders, such as mitochondriopathies, peroxisomal diseases, disorders of the beta-oxidation of fatty acids, congenital myasthenic syndromes and botulism in infants have been described. At the same time, considerable progress has been made in the understanding of congenital myopathies, congenital muscular dystrophy and neonatal myotonic dystrophy. In this review we describe the most relevant conditions in which hypotonia is seen, and give guidelines for orientation in the study of newborn babies with this condition. We emphasize the importance of a clinical approach based on the family history (myotonic dystrophy, transitory neonatal myasthenia), the prenatal history (fetal movements, polyhydramnios) and neurological examination (facial diplegia, lingual fasciculations, arthrogryposis, respiratory difficulty) which permits early completion of studies, including muscle biopsy--very useful in the neonatal period--and genetic analysis. This allows the prognosis of the condition to be established early so that timely and effective genetic counselling may be given to the parents, avoiding recurrence of the serious morbi-mortality of many of these conditions.

Guidelines as Topic↗

PubMedDate not supplied

[Updates in muscular dystrophies].

INTRODUCTION: Advances in molecular genetics on lasts 15 years had modified profoundly our knowledge about muscular dystrophies. The pathogenia, caused by defectives proteins which disrupt dystrophin-associated-protein complex in most of the dystrophies, has generate a new classification based in protein and genomic defects. DEVELOPMENT: In this review, clinical, genetic, diagnostic and therapeutic aspects of the main muscular dystrophies are described. Limb girdle muscular dystrophies with Duchenne-like phenotype (sarcoglycanopathies), are identified by immunohistochemistry, as X-linked Emery-Dreifuss muscular dystrophy (emerin deficit), and classical congenital muscular dystrophy (merosine depletion). The others limb girdle muscular dystrophies, an heterogeneous phenotypical group, are detected by Western blot (mainly calpainopathies), or inmunohistochemistry in muscle (caveolinopathies) and blood (dysferlinopathies). Congenital muscular dystrophies with brain malformations: Fukuyama, muscle-eye-brain, and Walker-Warburg syndrome; and fukutin-related protein dystrophy, only may be differentiated by genetic analysis. All them shows alpha-dystroglican depletion. Autosomal dominant Emery-Dreifuss muscular dystrophy and facioscapulohumeral dystrophy are exclusively identified by DNA study. Finally, Duchenne/Becker muscular dystrophies are diagnosed by immunohistochemistry, Western blot and/or DNA analysis. Treatment of muscular dystrophies is based in physiotherapy, ventilatory support, surgery and drugs (mainly steroids, effective in Duchenne/Becker muscular dystrophies). CONCLUSION: Genic and cellular therapy are yet on experimental field, and are matter of the future. Now, accurate diagnosis is important for therapeutic management, prognosis and genetic counseling.

Dystrophin↗