A 3½-year-old boy presented with megaloblastic anemia and recurrent episodes of severe lactic acidosis and coma. At age 4 years, he developed sepsis and died; postmortem examination failed to show ...any gross abnormality in any tissue. Biochemical analysis of muscle showed decreased activities for all respiratory chain enzymes except complex II. Muscle histochemistry revealed diffuse cytochrome c oxidase deficiency. Southern blot analysis of mitochondrial DNA from muscle, liver, and blood showed a heteroplasmic single mitochindrial DNA deletion of 2.4 kb, which removed the genes for cytochrome c oxidase I and II and the transfer ribonucleic acid genes for serine and aspartic acid. Single large-scale deletions in mitochondrial DNA have been associated with Pearson's syndrome, Kearns-Sayre syndrome, and progressive external ophthalmoplegia. This patient's presentation is unusual and suggests an overlap between Pearson's syndrome and Kearns-Sayre syndrome. (J Child Neurol 2004;19:258-261).
The protective effects of cobalt and vitamin E in iron overloaded rats were investigated. Rats were divided into four groups: group I as control, group 2 received only iron; group 3 iron and cobalt, ...group 4 iron and vitamin E. All injections were given 3 times per week for 3 weeks. Biochemical and histopathologic studies were done on samples of blood and liver, spleen, and intestine. The results showed that the administration of iron with cobalt or vitamin E decreased lipid peroxidation and the levels of hypoxanthine in all tissues (
P < .001). Tissue associated myeloperoxidase (MPO) activity was increased in all iron-overloaded animals. However, vitamin E and cobalt decreased MPO activity (
P < .001) in all tissues with the exception of the intestines, where cobalt was ineffective. Cobalt therapy increased hemoglobin, hematocrit, and MCV (
P < .05). In contrast to SGPT activity, SGOT activity was significantly increased in all groups but more so in group 3 animals. The increased activity of serum SGOT levels might be related to the mechanical injury by cardiac puncture. The most striking histopathologic finding was the presence of granulomas in the livers of 71% of the animals of group 2 and in 66.6% of group 3. Interestingly, granulomas developed in only 33.3% of group 4 animals, whereas no granulomas were found in the livers of control animals (group 1). In this article we report that cobalt is as effective as vitamin E in significantly reducing ironinduced biochemical changes in an iron-overload in vivo model. We further describe for the first time the presence of extensive granuloma formation in iron-overloaded liver tissue and the greater efficiency of vitamin E over cobalt in protecting against granuloma formation in iron overload.
Infliximab is a monoclonal antibody that targets TNF-alpha and has been shown to be effective for the management of steroid-dependent or refractory Crohn's disease. It is an effective therapy in ...adult patients, but experience in children is limited. We report a case of Crohn's disease which was refractory to the conventional treatment. A 14-year-old boy was admitted to the hospital with arthralgia and oral and perianal lesions. On physical examination his body weight was below the 3rd percentile, and height was between the 3rd-10th percentiles. He had elevated erythrocyte sedimentation rate and C-reactive protein and decreased hemoglobin, hematocrit and albumin levels. Barium enema and computerized abdominal tomography revealed a markedly distended small bowel with a narrowed area just above the ileocecal valve and terminal ileum. There was no mucosal pathology in his colonoscopic study. A regimen of prednisolone was begun with a diagnosis of Crohn's disease. In the first month of therapy the patient experienced progressive worsening of his symptoms, and azathioprine was added to the treatment in the second month. As he had exacerbation of his symptoms and worsening laboratory tests, infliximab infusions (5 mg/kg/d) were administered intravenously (at 0, 2 and 6 weeks) at the end of the 8th week. At the 6th week of treatment including two infusions of infliximab at 0 and 2 weeks, clinical and laboratory response occurred. The only side effect of the treatment was pneumonia, which was seen after the 6th week of the therapy. In conclusion, infliximab appears to be an effective and safe therapy for childhood refractory Crohn's disease.
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