No abstract

Subacute necrotizing encephalopathy (SNE) or Leigh's disease is associated with various defects in oxidative phosphorylation (OXPHOS). However, the relationships between these OXPHOS defects and nuclear DNA or mitochondrial DNA (mtDNA) mutations is still unclear. We evaluated three SNE pedigrees (two singleton cases and a pedigree) biochemically for OXPHOS abnormalities and genetically for four mtDNA point mutations. There was a complex I defect in all three pedigrees that was associated with a complex III defect in two individuals. An mtDNA mutation in the ATPase, subunit 6 gene (np 8993) was present in one SNE pedigree. This mutation was maternally inherited, heteroplasmic, produced marked clinical and biochemical heterogeneity between pedigree members, and varied along the maternal lineage at levels ranging from 0% to > 95% of the total mtDNAs. These mtDNA mutations were not present in the other two pedigrees. These observations emphasize the importance of screening for OXPHOS defects and mtDNA mutations in SNE cases.

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This investigation examined factors related to adherence to treatment regimens for children with cystic fibrosis (CF) and their mothers. Subjects were 45 children with CF who ranged in age from 6 to 10 years and their mothers. Findings revealed that children's and parents' reports of level of adherence were related to their knowledge of the specific details associated with medically prescribed treatments. In this sample, 12% to 32% of mothers did not have an accurate understanding of physician recommendations for their children's treatments. When controlling for individual differences in the prescribed treatment regimens, parents' and children's knowledge of what had been prescribed accounted for a significant portion of the variance in the children's reported treatment-related behaviors. Results are discussed in terms of implications for future intervention research aimed at enhancing adherence to treatment as well as for future directions for clinical efforts in this area.

Three patients are described who had spontaneously resolving transient thyrotoxicosis after resection of a parathyroid adenoma without thyroidectomy or an apparent thyroid abnormality before or during surgery. All had documented thyrotoxicosis that developed within 2 weeks after surgery, which was clinically symptomatic in two of three patients. The thyrotoxicosis was associated with subnormal radioactive iodine thyroid uptake when performed in the two symptomatic patients and was consistent with a postsurgical inflammatory etiology secondary to thyroid gland trauma during parathyroidectomy. In all patients, the clinical and biochemical evidence of thyrotoxicosis resolved within 2 months. Antithyroglobulin and antimicrosomal antibodies were not detected in the two patients who had a complete recovery 3 months after surgery. However, in the patient who had autoimmune thyroiditis, hyperthyroidism due to Graves' disease subsequently developed 19 months after parathyroidectomy and was associated with increasing titers of antithyroglobulin and antimicrosomal thyroidal autoantibodies. From these observations, we conclude that 1) spontaneously resolving transient thyrotoxicosis of varying severity may occur in some patients after parathyroidectomy, which could be secondary to intraoperative thyroid gland manipulation, and 2) while the occurrence of subsequent Graves' hyperthyroidism in a patient with underlying autoimmune thyroiditis may have been a coincidence, this observation also raises the possibility that thyroidal autoantigen released during parathyroidectomy may trigger the reactivation of autoimmune thyroid disease in a predisposed subject.