Adolescent idiopathic scoliosis is known to aggregate within families; however, the pattern of inherited susceptibility is unclear. A genomic screen and statistical linkage analysis of a genetic isolate including individuals with idiopathic scoliosis is being performed to identify variants responsible for this disease.

Scoliosis does not demonstrate a characteristic pattern of classical genetic (inherited) disorders. The severity of the disease within families can change and sometimes generations are skipped. However, the role of hereditary or genetic factors in the development of this condition is widely accepted. Numerous investigators are currently attempting to locate these genes. Studies based on a wide variety of populations have suggested an autosomal dominant mode of inheritance or sex-linked inheritance pattern. Other authors state that the “genetics link” may be complex, with an interaction of several genes rather than just one.

To identify chromosomal loci encoding genes involved in susceptibility to idiopathic scoliosis and the trasmission way of scoliosis we are studing a genetic isolate. We have generated a 10,600 individual pedigree of the village of Campora, in the Cilento area, starting from the beginning of the 17th century connecting all the 1200 living inhabitants. The actual population of Campora derives from a few founders; therefore, the living inhabitants are all related to each other. The population will undergo clinical and radiographic evaluation for the presence and degree of scoliosis. A genomic screen and statistical linkage analysis of the families with individuals having idiopathic scoliosis will be performed. With this approach we can identify variants responsible for this complex disease and genetic links of scoliosis.

Neglected rupture of quadriceps tendon is an infrequently occurring lesion resulting from sport, but it is very interesting as regards the physiological and functional repercussions. The lesion is common in football players. The pathogenesis is a flexion trauma of knee. Many authors point out the importance of a pre-existent degeneration due to exogenous and endogenous factors. Pain, inextensible knee, ecchymosis, axe hit are a common presentation in acute events, difficult knee extension and pain in chronic. X-ray study shows calcification at the tendon-bone junction.

The treatment of neglected rupture of quadriceps tendon is surgical. If a defect of 5 cm or more is present between the ends of tendon the fascia lata can be used to correct the gap. When the ends can be apposed an end-to-end repair is possible. We treated a neglected rupture of quadriceps femoris muscle tendon in a bodybuilder with a particular technique: we stripped and harvested the semitendinosus and gracilis tendon and sutured them together. Then we made a transverse hole in the mid-portion of the patella; the tendons were passed through the transverse hole in the patella and sutured with the lateral, medial and intermendial vastus, and with the rectum femoral. At 6-month follow-up the patient has no pain and stability is improved, a practical range of knee motion regained. Full forceful extension is not completely restored.