Idiopathic scoliosis--new surgical methods or search for the reasons.
Idiopathic scoliosis (IS) is a deformity of the spine whose aetiology is unknown despite of extensive clinical and basic research work. The significance of this disease lies in the consequences of a spine deformity (deformation of the chest, compromise of the cardio-pulmonar function, compression of the neurological elements, severe somatic and psychological sufferings). According to statistical data, one third of the idiopathic scoliotic cases progress and need surgical intervention. Cotrel and Dubousset introduced the three dimensional correction surgical method for the treatment of spine deformities in 1983 (CD method). The authors report on the application of the CD method for the treatment of IS from 1991 to date. After the operation of 36 patients they give an account of good results and report on the modifications of the surgical technique on the basis of their experiences. Aware of the late consequences of the surgical treatment of IS the authors started with the investigation of the aetiology of the disease in order to introduce a causal treatment. As for the aetiological background of IS, data on the role of heritable factors were relevant only. They gave a hint to start with studies aimed at the investigation of genetic determinants of the syndrome. I aberration of chromosome #10 [karyotype: inv(10)(p11q26)]. In one of the cases there was a multiple familial occurrence of the syndrome coupled with the same anomaly of the karyotype. The probands' father and grandfather all had the same pattern of scoliotic deformity and the same aberrant karyotype of chromosome #10 was found both in the proband and his father. Preparation of genomial DNA from peripheral blood of the patients was started. Fragment length polymorphism (RFLP) examination with PCR technique using oligonucleotide primers specific for chromosome #10 and for regulatory genes of left-right body assymetry is underway.
Szappanos
L
L
Department of Orthopaedic Surgery, University Medical School of Debrecen, Hungary.
Balogh
E
E
Szeszák
F
F
Oláh
E
E
Nagy
Z
Z
Szepesi
K
K
D002869:Chromosome Aberrations / Q000235:genetics; D002879:Chromosomes, Human, Pair 10 / Q000235:genetics; D004247:DNA / Q000235:genetics; D017931:DNA Primers; D015894:Genome, Human; D006321:Heart / Q000503:physiopathology; D006801:Humans; D007621:Karyotyping; D008168:Lung / Q000503:physiopathology; D009408:Nerve Compression Syndromes / Q000503:physiopathology; D010146:Pain / Q000503:physiopathology; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D011183:Postoperative Complications; D011602:Psychophysiologic Disorders / Q000503:physiopathology; D012600:Scoliosis / Q000209:etiology / Q000235:genetics / Q000473:pathology / Q000503:physiopathology / Q000601:surgery*; D013577:Syndrome; D013909:Thorax / Q000002:abnormalities
D017931:DNA Primers; D004247:DNA