SUMMARY A genetic family study was undertaken by photofluorography of the first, second, and third degree relatives of 1 16 index patients with adolescent idiopathic scoliosis (AIS). The index patients were ascertained in the course of an epidemiological screening. The pattern of familial clusters and the recurrence risk related to the number of affected relatives and to the severity of the disorder in the index patients support the theory of polygenic inheritance, a multifactorial-threshold aetiological model. The recurrence risk table for first degree relatives, prepared by computerised data processing and analysis, may contribute to the early diagnosis and prevention of the disorder.The aetiological evaluation of scoliosis rests upon 5 main points.(1) Scoliosis is of heterogeneous origin. Thus, it can be a symptom of various syndromes and disorders, and can also appear as an independent nosological entity

TNFalpha is a highly active cytokine which plays an important role in the regulation of apoptotic cell death, a mechanism involved in the pathophysiology of myelodysplastic syndrome (MDS). In this study we investigated the expression of TNFalpha of the bone marrow trephine biopsies by immunohistochemical method and the TNFalpha production of peripheral blood mononuclear cells by ELISA method in 15 patients affected by MDS. Five of seven patients without excess of blasts showed high or intermediate TNFalpha expression in the bone marrow biopsies, whereas two patients with excess of blasts were negative and one had low expression. The five CMML patients revealed low or intermediate expression. The production of TNFalpha by the PBMC was analysed in 10 patients, four patients with RA and two with CMML produced higher level of TNFalpha which increased after stimulation with phorbol myristic acetate, but none of the RAEB patients revealed increase in TNFalpha production. In conclusion we suppose that increased TNFalpha expression and production by PBMC may be an indirect evidence of the role of increased apoptosis in low risk MDS patients.

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