Lower extremity length discrepancy solution by modified drilling epiphysiodesis and anthropological prediction methods: long-term results.

This study aimed to summarize our experience with modified drilling epiphysiodesis and prediction methods for accurate timing of surgery and to compare the results with those of recent work by other authors. The Macnicol and Gupta modified drilling technique was used. Distal femoral and/or proximal tibial permanent epiphysiodesis was performed in 42 children (21 boys, 21 girls; median age at surgery=12.

Effect of transtibial prosthesis weight on the contralateral knee joint in relation to the risk of osteoarthritis.

Background: Individuals with transtibial amputation place more load on the contralateral lower extremity. A higher adduction moment at the knee joint has been shown to have an effect on the risk of osteoarthritis.

Objective: The aim of this study was to investigate the effect of weight-bearing of lower-limb prosthesis on the biomechanical parameters associated with the risk of contralateral knee osteoarthritis.

A case of congenital multiple epiphyseal dysplasia from the Late Migration Period graveyard in Drnholec (Czech Republic).

Objective: To contribute to differential diagnosis of multiple epiphyseal dysplasia (MED) in archeological and clinical contexts.

Materials: A skeleton of a 30- to 45-year-old male (grave no. 806) from the Late Migration Period graveyard in Drnholec-Pod sýpkou (Czech Republic), radio-carbon dated to AD 492-530.

Eight mutations including 5 novel ones in the COL1A1 gene in Czech patients with osteogenesis imperfecta.

Background And Aim: Osteogenesis imperfecta (OI), also called brittle bone disease, is a clinically and genetically heterogeneous disorder characterized by decreased bone density. Autosomal dominant forms result from mutations in either the COL1A1 (collagen type I alpha-1 chain) or COL1A2 (collagen type I alpha-2 chain) genes encoding the type I collagen. The aim of this study was to identify mutations and allelic variants of the COL1A1 gene in patients with osteogenesis imperfecta (OI).

The radiographic method for evaluation of axial vertebral rotation - presentation of the new method.

The objective of this study is to present a new radiographic method for the assessment of vertebral rotation from an antero-posterior view of conventional X-rays which is sufficiently precise in comparison with radiographic methods presently used in clinical practice (methods of Nash-Moe and Perdriolle). This method is based on the properties of the geometric shape of vertebrae and their shared dimensional proportions. It means that the relation between vertebral body width and height doesn't change significantly within the entire thoracic and lumbar sections of the spine.

Mutations in NOTCH2 in families with Hajdu-Cheney syndrome.

Hajdu-Cheney syndrome (HCS) is a rare genetic disorder whose hallmark is acro-osteolysis, shortening of terminal phalanges, and generalized osteoporosis. We assembled a cohort of seven families with the condition and performed whole exome resequencing on a selected set of affected patients. One protein-coding gene, NOTCH2, carried heterozygous truncating variants in all patients and their affected family members.

New predictive model for monitoring bone remodeling.

The aim of this article was to present a new thermodynamic-based model for bone remodeling which is able to predict the functional adaptation of bone in response to changes in both mechanical and biochemical environments. The model was based on chemical kinetics and irreversible thermodynamic principles, in which bone is considered as a self-organizing system that exchanges matter, energy and entropy with its surroundings. The governing equations of the mathematical model have been numerically solved using Matlab software and implemented in ANSYS software using the Finite Element Method.

Ultrasound diagnosis of severe mesomelic dysplasia in two fetuses, associated with increased neck translucency and tetralogy of Fallot in one and cystic hygroma in the other.

Two stillborn male sibling fetuses born to the same parents had severe mesomelic dysplasia documented at ultrasound and confirmed by radiography and autopsy. The 17-week-old fetus with increased neck translucency had additional heart and great vessel anomalies consistent with tetralogy of Fallot. The 15-week-old fetus had a nuchal cystic hygroma.

Hereditary sensory and autonomic neuropathy type IV orthopaedic complications.

Painless fractures with delayed healing or abnormal callus formation require exclusion of a systemic disorder. We report a 9-year-old girl with hereditary sensory and autonomic neuropathy type IV who developed bone changes in the hind foot after a protracted healing of a tibia fracture. Osteomyelitis was considered as a possible cause of destruction of the tarsal bones.

Case reports: Legg-Calvé-Perthes disease in Czech archaeological material.

Legg-Calvé-Perthes disease (osteochondrosis of the femoral head) has been recognized in archaeological material for nearly a century but is extremely rare. We describe two Czech cases from archaeological findings. The first case was diagnosed in the skeleton of a man older than 50 years with the left hip affected.

Czech dysplasia metatarsal type: another type II collagen disorder.

Czech dysplasia metatarsal type is an autosomal-dominant disorder characterized by an early-onset, progressive spondyloarthropathy with normal stature. Shortness of third and/or fourth toes is a frequently observed clinical feature. Similarities between individuals with this dysplasia and patients with an R275C mutation in the COL2A1 gene, prompted us to analyze the COL2A1 gene in the original families reported with Czech dysplasia.

Pachydermoperiostosis-critical analysis with report of five unusual cases.

Pachydermoperiostosis (idiopathic hypertrophic arthropathy) {MIM 167100} is an uncommon disease characterized by unique phenotype (digital clubbing and pachydermia) and distinctive radiographic appearances (periostosis). Two families are reported that, in additional to the typical phenotype and radiographic characteristics of pachydermoperiostosis, show some rare and/or unusual, not yet reported, clinical findings. In the first family, distinctive features were severe progressive arthritis with villonodular involvement of the knees.

Familial expansile osteolysis--not exclusively an adult disorder.

Familial expansile osteolysis (FEO, MIM174810) is a rare syndrome which was observed world-wide in only three kinships and in two unrelated American individuals. We report a patient with familial expansile osteolysis from the Czech Republic, not related to the previously reported cases. This patient's extraordinary clinical course does not conform to the ordinary.

Dominantly inherited progressive pseudorheumatoid dysplasia with hypoplastic toes.

Objective: To present four related patients with progressive pseudorheumatoid dysplasia (PPsRD) each with distinctive history, unique phenotype and some peculiar radiographic findings.

Results And Conclusions: The history was characterised by weather-dependent articular pain. The unique phenotypic features were hypoplasia/dysplasia of one or two toes.