Srp Ark Celok Lek
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The multiple endocrine neoplasia type 2A (MEN 2A) syndrome, comprising medullary thyroid carcinoma (MTC), pheochromocytoma and primary hyperparathyroidism (PHPT) is most frequently caused by codon 634 activating mutations of the RET (rearranged during transfection) proto-oncogene on chromosome 10. For this codon-mutation carriers, earlier thyroidectomy (before the age of 5 years) would be advantageous in limiting the potential for the development of MTC as well as parathyroid adenomas. ⋯ Children with familial antecedents of MEN 2A should be genetically studied for the purpose of determining the risk of MTC and assessing the possibilities of making prophylactic thyroidectomy before the age of 5 years.
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Case Reports
[Congenital pseudarthrosis of lower leg treated by almost outdated method--case report].
Congenital pseudarthrosis of tibia is a rare congenital deformity with progressive evolution. Treatment is vague and difficult, and many methods have been used--from once mandatory early amputation to contemporary operative (Ilizarov method, free microvascular fibular graft) and adjuvant methods (electrostimulation, biphosphonates, bone morphogenetic protein). We present the usage of once popular method of homologous graft insertion and intramedullary fixation. ⋯ Despite bad prognostic factors (young age, severe deformity), utilization of obsolete and almost forgotten treatment methods can provide excellent result.