Bisphosphonate therapy for painless fracture: change of HSAN 1 clinical course with biphosphonate and Vitamin D therapy.

Hereditary Sensory and Autonomic Neuropathies comprise a set of 5 rare neurologic conditions, little known to radiologists as the neurologic and skin abnormalities precede the radiographic changes by months or even years. We report a Caucasian patient with a clinical history of HSAN, most consistent with subtype 1, whose progressive, destructive bone changes of the foot were not only controlled but to a degree reversed by the administration of bisphosphonates (Alendronate ) and vitamin D (Colecalciferol). The authors believe that combined bisphosphonate and vitamin D therapy is the treatment of choice for progressive bony changes in HSAN1. This therapy may be beneficial in other neuropathic osteoarthropathies and possibly osteolytic bone disorders.

Treatment of children scoliosis by corrective brace with regulated force effect.

Rigid structural spine scoliosis of a child and even non progressive congenital scoliosis (e.g. isolated hemivertebra) can be treated by hypercorrective brace in full day regime. The article shows the new type of corrective brace with adjustable force effect. The brace consists of 3 stiff parts connected by joints and telescopes. The parts of brace are made from plastic according to plaster form of child trunk. The joints allow only mutual turning brace parts at frontal plane. The special telescopes were developed which operated with prescribed forces, it means the brace and trunk parts are mutually turned at prescribed moments. The article shows the algorithm for calculation of spine stress state, and spine curve correction for given brace with adjusted telescope forces. The second algorithm calculates the telescope forces for demanded spine curve correction. The computer program can be used for computer aid design of brace forces. The force effect of the new type of brace is demonstrated on a 14 months old boy with congenital scoliosis of lumbar spine (hemivertebra L1 and L3 on the right side). Curvature measured according to Coob was changed after application of this brace from 47.5° to 32.0°.

Computation of bone remodelling after Duracon knee arthroplasty using a thermodynamic-based model.

The present study utilizes a recently developed literature model for the bone remodelling process to predict the evolution of bone density following Duracon total knee arthroplasty (TKA). In this model, which is based on chemical kinetics and irreversible thermodynamics, bone is treated as a self-organizing system capable of exchanging matter, energy, and entropy with its surroundings. Unlike previous models in which mechanical loading is regarded as the only stimulus for bone remodelling, the present model establishes a unique coupling between mechanical loading and the chemical reactions involved in the process of bone remodelling. This model was incorporated into the finite element software ANSYS by means of a macro to compute density distribution in distal femoral bone both before and after TKA. Consistent with dual-energy X-ray absorptiometry (DEXA) scans reported in the literature, the results showed that the most severe bone loss occurs in the anterior region of the distal femur and that there is more bone resorption in the lateral than the medial condyle following TKA. Furthermore, the bone density distribution predicted using the present model showed a gradual and uniform pattern and thus a more realistic bone evolution contrary to the strain energy density model, where there is no gradual bone density evolution.

Biomechanics of leg deformity treatment.

At pre-school age, there is a possibility to treat severe varosity and/or valgosity of legs by orthoses. The three points force effect of the orthosis partially corrects the pathologic defect of the leg. If the orthosis is intermittently used for a long time the correction is permanent. Step by step correction of bone deformities are based on remodelling of growth epiphyses and bones that are caused by orthotic bending pre-stressing. According to Hüter-Volkmann's law, the oblique loading regulates the growth of epiphyseal plates of long bone into the direction of the pressure result and the bone remodelling process is started: it means that the bone grows at the tensile part of growth epiphyses more quickly than at pressure one and gradually eliminates the varosity and/or valgosity defect. The knowledge of stress values for starting of the bone remodelling process is principal for clinical praxis. The values of pre-stressing cannot be increased by starting the remodelling process from the ethical point of view but it can be judged on its starting according to the success of the treatment. The aim of this article is to study the bone, ligament stress state and deformations of successful treatment. Method and calculation algorithm of stress state and deformation that are necessary for the starting of the remodelling process at the knee region were verified on a group of eight patients that were fitted by orthoses with bending pre-stressing. The space models of the knee, femur and tibia were composed with the help of X-ray, CT and MRI scan. The calculation algorithm was implemented on a PC and the program can be easily applied at clinical praxis.

Altered ratio of collagen chains in bone of a patient with non-lethal osteogenesis imperfecta.

Bone from a patient with osteogenesis imperfecta contained type III collagen which was absent in control bone. The ratio of alpha 1(I)/alpha 2(I) in type I collagen of patient's bone was increased (2.9 vs. 2.3 +/- 0.2 in controls) and the ratio of dimers beta 11/beta 12/beta 22 was altered due to the increased beta 22 content. No abnormality was observed in collagen from the patient's skin. The altered composition of collagen in bone, but the normal composition in skin suggests that the disease in the patient is due to impaired regulation of the synthesis of collagens in bone, rather than by a mutation in one of the two type I collagen genes. Unlike in skin, all the type III collagen in patient's bone was pepsin-soluble indicating an inability of the bone to incorporate type III collagen into mature highly cross-linked extracellular matrix.

Thoracic-pelvic dysostosis.

We report a third patient, a female, with thoraco-pelvic dysostosis. This rare disorder is similar in phenotypic and radiographic appearances to thoraco-laryngo-pelvic dysplasia (Barnes syndrome). The only major difference between these two diseases is absence of laryngeal involvement in thoraco-pelvic dysplasia. They may represent two different entities or a contiguous gene syndrome.

[Arthrogryposis multiplex congenita. I.]. / Arthrogryposis multiplex congenita.

In part I the authors deal with the present possibilities of the diagnostics and therapy of arthrogryposis multiplex congenita. They proceed from the classification after Hall of 1982 (classification of the so-called distal arthrogryposis) and of 1983 where congenital contractures are divided into three groups according to associated system anomalies. On the basis of their own experience they deal in details with distal arthrogryposis - amyoplasia which differs from spinal degenerative diseases by 3 symptoms: 1. it does not deteriorate after the birth, 2. nerves are not affected, 3. intelligence is normal. Differential diagnostics is carried out on the basis of clinical-genetic examination. Dermatoglyphic examination contributes to an early diagnosis mainly in distal arthrogryposis. The seriousness of neurogenic or myogenetic affection is determined by EMG examination. The authors compare therapeutical literary aspects with their own methods of treatment. The evaluation of diagnostic and therapeutical results is presented in part II of the communication. Key words: arthrogryposis multiplex congenita, amyoplasia, distal arhtrogryposis, electromyography, dermatoglyphes, surgical treatment.

[Flexional adduction contracture of the thumbs in distal arthrogryposis type I.]. / Flekcne addukcní kontraktura palcu rukou u distální artrogrypózy typu I.

The authors discuss diagnostic and therapeutic aspects of flexion adduction contractures of the thumb - so-called congenital clasped thumb - in patient with distal arthrogryposis type I. The diagnosis is based on classification of distal arthrogryposis elaborated by Hall et al. in 1982. For the prognosis of the deformity and strategy of treatment it is an advantage to divide congenital clasped thumb (CCT) into four groups, as recommended by Weckesser et al. in 1968. The demonstrated patient belongs according to the mentioned criteria into group 2. Associated congenital developmental defects were dealt with in preschool age - a tracheal cyst, inguinal hernias, cryptorchism. Orthopaedic treatment extended over a long period (from 3 months to 12 years); the surgical operations were performed in several stages. The very satisfactory functional results or the reconstruction operations of the hands could not be expressed objectively by EMG examination of the thenar musculature due to hypotrophy and a fixed flexion adduction contracture. Repeated EMG examinations of selected muscles of the upper and lower extremity revealed progression of a neurogenic lesion. An important dermatoglyphic finding was the vertical course of the main papillary lines, the monkey line of the palms and absence of flexional lines of the fingers. Key words: flexion adduction contracture of the thumbs, congenital clasped thumb, distal arthrogryposis, surgery of the hand, electromyography, dermatoglyphs.

[Prediction of body height and shortening of the lower part of the body in adults with achondroplasia]. / Predikce telesné výsky a zkrácení dolního segmentu tela v dospelosti u achondroplazie.

The authors present the method of predicting the body height of patients with achondroplasia in adulthood and the method of predicting shortening of the lower segment of the body as compared to the trunk. They evaluate a group of 12 patients with achondroplasia at the age from 3 to 17 years. They compare the growth curves of patients with normal Czechoslovak population and with a group of American patients suffering with achondroplasia. The application of growth curves of American patients with achondroplasia appears to be the most suitable and simple graphical method for the prediction of the body height of the Czechoslovak patients suffering from achondroplasia. The method of the prediction of dwarfism of the lower segment of the body has been developed for the purpose of the rational indication of the stepwise prolongation therapy by the compression-distraction method. Analogically it will be possible to verify the growth curves for some other bone dysplasiae presented in literature and predict dwarfism of the lower segment of the body in adulthood, e.g. in hypochondroplasia, metaphyseal chondrodysplasia of the type of Schmid, Turner syndromes, etc.

[Arthrogryposis Multiplex Congenita - Part II.]. / Arthrogryposis multiplex congenita (2. cást).

It is a follow-up to Part I of the communication where the authors report on the present possibilities of the diagnostics and therapy of arthrogryposis multiplex congenita. In evaluating the patients with congenital contractures they proceed from the classification of Hall et al. of 1982 and 1983. A 24-member group is made up of patients with classic and distal arthrogryposis. The diagnostics is based on the clinical-genetical examination including dermatoglyphical and electromyographical examination. Electromyographical examination aims at the determination of the prognosis and impairment of mobility. EMG examination has proved neurogenic lesion in 17 children and myogenic lesion which was combined with neurogenic lesion in 3 children. After repeating EMG examination the authors found out in 5 children out of 6 the progression of neurogenic lesion. Dermatoglyphical examination performed in 13 patients (with taking sole prints in four of them) showed considerable changes which are significant for arthrogryposis. In evaluating the clinical findings the verticality of the course of papillary lines correlates with the degree of the clinical impairment as well as the increase of atdangles. The surgical treatment of contractures of lower extremities is indicated on the basis of the authors' own experience as early as in the first year of life. The result of the therapy is to a decisive extent influenced - apart from the severity of congenital contractures - by the timely and longterm comprehensive treatment carried out by an orthopaedic surgeon and rehabilitation specialist closely cooperating together and in case of occurrence of other associated congenital defects also by other specialists. Adequate involvement of parents is a necessary condition for a successful treatment. Key words: arthrogryposis multiplex congenita, amyoplasia, distal arthrogryposis, electromyography, dermatoglyphes, therapy.

[The Camurati-Engelmann syndrome (progressive diaphyseal dysplasia)]. / Morbus Camurati-Engelmann (progresivní diafyzární dysplazie).

The presented case-history demonstrates an infant with a rare bone disease with a very serious prognosis. Based on X-ray findings on the skeleton (sclerosis of the diaphyses of long bones, ribs, vertebrae and in particular the base and vault of the skull), the diagnosis of morbus Camurati-Engelmann--progressive diaphyseal dysplasia was established. With regard to the striking progression of the process in the cranial area and the progressing stigmatization of the patient's face, the authors consider also a more recent diagnostic unit--craniodiaphyseal dysplazia. With advancing sclerotization of the skull the most serious complications are compression of the cranial nerves which can be resolved in the final stage only by surgery. From a brief review of the literature: the aetiology of the disease is not known, the therapeutic effect of prednisone or calcitonin is small.

Hajdu-Cheney syndrome: report of a family and a short literature review.

We report three members of an Armenian family with Hajdu-Cheney syndrome. The history suggested that five other members of the family were also probably affected. This disorder is important for the radiologist because distinctive radiographic findings make the diagnosis possible before clinical signs and symptoms are fully developed. Additionally, radiographic examination is essential in all patients suspected of Hajdu-Cheney syndrome for confirmation of the clinical diagnosis. Radiographic examination also detects complications of the syndrome not evident on clinical examination.