Congenital Proximal Radioulnar Synostosis in an Elite Athlete-Case Report.

Background and Objectives: Proximal radioulnar synostosis (PRUS) is the most frequent congenital forearm disorder, although the prevalence in the general population is rare with a few hundred cases reported. Pfeiffer, Poland, Holt-Oram, and other serious congenital syndromes contain this abnormality. Non-syndromic cases with isolated PRUS very often exhibit as SMAD6, NOG genes variants, or sex chromosome aneuploidy. A subgroup of patients with haematological abnormalities presents with HOXA11 or MECOM genes variants. Case report: We present a non-syndromic adult elite ice-hockey player with unilateral proximal radioulnar synostosis of the left forearm. In early childhood he was able to handle the hockey stick only as a right-handed player and the diagnosis was set later at the age of 8 years due to lack of supination. Cleary-Omer Type III PRUS was found on x-ray with radial head hypoplasia and mild osteophytic degenerative changes of humeroulnar joint. Since the condition had minimal impact on sports activities, surgical intervention was not considered. The player continued his ice-hockey career at the top level and joined a national team for top tournaments. Upper extremity function assessment with questionnaires and physical testing resulted in minimal impairment. The most compromised tool was the Failla score with 10 points from a total of 15. Genetic testing with Sanger sequencing revealed no significant pathogenic variant in SMAD6, NOG, and GDP5 genes. No potentially pathogenic copy number variants were detected by array-based comparative genomic hybridization. Conclusions: In the reported case, the ability of an athlete to deal with an anatomic variant limiting the forearm supination is demonstrated. Nowadays, a comprehensive approach to rule out more complex musculoskeletal impairment and family burden is made possible by evolving genetics.

Isolated acetabular revision with modular trabecular titanium implants using tap-out tap-in technique of femoral cemented monoblock reinsertion.

OBJECTIVES:  To evaluate the role of isolated acetabular revision with modular trabecular titanium implants using simple extraction and reinsertion of femoral monoblock cemented stem (tap-out tap-in technique). BACKROUND: In the past years, we face the burden of revising hip arthroplasties in predominantly elderly population. METHODS: Single institution retrospective analysis of 17 hips in 16 patients with previous cemented total hip arthroplasty implanted between 1988 and 2007. These patients underwent isolated acetabular revision between 2010 and 2018 using modular acetabular Delta Trabecular Titanium (TT) system (Limacorporate S.p.a, Udine, Italy) with impaction bone grafting and reverse reamed allografts. Non-modular polished cemented stems (Poldi-Cech monoblock) were reinserted without additional cementing. RESULTS: Out of the total cohort (17 hips), 14 hips showed no signs of loosening or graft resorption as well as no femoral loosening during the median follow­up period of 5.1 (2 to 8.5 years). In one patient, fracture of cranial acetabular module occurred 4 months after the revision, one patient sustained two hip dislocations, and one patient developed deep infection resulting in permanent implant removal. CONCLUSION: Isolated acetabular revision using modular trabecular titanium implant with reinsertion of the original non-modular monoblock cemented femoral stem is a safe and effective technique in adequately selected patients (Tab. 3, Fig. 4, Ref. 30).

[Hypophosphatasia--biochemical and clinical manifestations, molecular genetic principles]. / Hypofosfatázia--biochemické a klinické prejavy, molekulovo-genetická podstata.

Hypophosphatasia is a rare hereditary metabolic disorder accompanying deficit of tissue nonspecific serum alkaline phosphatase. The incidence of overt forms is estimated about 1:100000 live births. In the prenatal manifestation the disease may cause severe damage to the foetus with intrauterine death. In children there is a defect of mineralization with rickets signs and the subsequent hypercalcaemia a hypercalciuria may lead to death. In adults the main manifestation is osteomalacia, skeletal deformities and fractures, early arthritis. In severe forms the heredity is autosomal recessive type. In mild forms the heredity may be dominant or recessive. In two case reports we present clinical course of the disease in two adult sisters, where diagnosis of hypophosphatasia was first time confirmed in Slovak population using molecular genetic methods.