Introduction: Progressive pseudorheumatoid dysplasia (PPD) is an autosomal recessive genetic disorder reported to be caused by gene alterations of the Wnt1-inducible signaling pathway protein 3 corresponding gene (WISP3) located on chromosome position 6q22. Up to date, there is only a handful of WISP3 mutations identified in Europe, whereas most mutations are identified in Asia and Middle East. According to our knowledge, this is the first report of genetic dissection of WISP3 associated with spondyloepiphyseal dysplasia tarda from Bosnia and Herzegovina. Based on clinical examination findings (general manifestations, physical examination, characteristics of their bones on X-ray and laboratory results), an index patient was directed to WISP3 genotyping for confirmation of suspected diagnosis of PPD. Methods: DNA was extracted from peripheral blood leukocytes. All 5 exons and their exon-intron boundaries of the WISP3 gene were amplified by polymerase chain reaction (PCR) and sequenced by Sanger method. Segregation analysis was done to confirm the familial carrier status. Results: A missense mutation (C223G) homozygous T to G transition at c.667 in exon 4 was identified in index patient. This mutation changed codon CAG to TAG and resulted in a subsequent change of the cysteine to glycine codon. Same mutation was observed in both parents in heterozygous form confirming the familial segregation. Conclusion: Due to its nature, the identified mutation C223G in exon 4 in WISP3 gene is the most probably causative for PPD in described patient. Here we describe the PCR based method for genotyping of specific mutation in WISP3 gene. The identification of this mutation might be a valuable addition to a regional databases on rare genetic variant although a functional analysis should be performed to explain its pathological effect.

INTRODUCTION 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. CASE OUTLINE This is a case report of male patient with pseudarthrosis involving both crural bones (Boyd type 5), diagnosed in neonatal age. Early conservative treatment was unsuccessful, so child never initiated gait. At the age of three and a half years, operative treatment was applied: resection of pseudarthrosis on both tibia and fibula, and osteoplasty of tibia using cylindric homologous graft and intramedullary fixation with transtarsal Steinman pin, followed by long leg cast immobilization. Pin was removed after ten months, and physical therapy was initiated 1.5 year after surgery, with initial to partial weight bearing and short leg cast throughout another year. Two and a half years after surgery complete union of graft was documented, and then full weight bearing was allowed. At final visit, five years and three months after surgery, shin axis was correct, leg lengths were equal, and child had normal walk with full range of motion. X-ray showed complete union of both tibia and fibula. CONCLUSION Despite bad prognostic factors (young age, severe deformity), utilization of obsolete and almost forgotten treatment methods can provide excellent result.

The aim of this study was to investigate the antioxidant capacity (AC) in the lipophilic fraction of postmortem motorcortex (MC), nucleus caudatus (NC) and gyrus temporalis (GT) from controls (C) and Alzheimer's disease (AD) patients. The initial samples consisted of 50 human brain tissues of AD and C. AC of the different region of human brain were measured by using the fluorescent method of the oxygen radical absorbance capacity (ORAC). Peroxyl and hydroxyl radical generators were used in the analysis. All ORAC analysis were carried out on the Perkin-Elmer spectrofluorometer LS 55 with fluorescent filters, Ex: 485 nm; Em: 520 nm. Final results were calculated using the differences between area under the quenching curve of fluorescein (FL), blank and analyzed biological samples. AC against peroxyl radicals (ORAC-ROO degrees ) of lipophilic fraction in MC of AD was statistically significantly lower in comparison with MC of C (p < 0.008). No changes in the AC against hydroxyl radicals (ORAC- degrees OH) of lipophilic fraction of AD were found in comparison with C. Reduction of total protein in GT of AD (p < 0.03) was found. The results showed that in the MC of AD brain the balance between production of free radicals and the neutralization by a complex antioxidant system is disturbed. The manual fluorescent method for AC measurements proved to be sufficiently appropriate and sensitive for the AC measurements of lipophilic fraction of postmortem brain tissues from different patologic conditions.