BRCA1 frameshift variants leading to extended incorrect protein C termini.

Carriers of BRCA1 germline pathogenic variants are at substantially higher risk of developing breast and ovarian cancer than the general population. Accurate identification of at-risk individuals is crucial for risk stratification and the implementation of targeted preventive and therapeutic interventions. Despite significant progress in variant classification efforts, a sizable portion of reported BRCA1 variants remain as variants of uncertain clinical significance (VUSs).

Factors responsible for the development of avascular necrosis secondary to the treatment of congenital dislocation of the hip.

We present 104 cases of unilateral congenital dislocation of the hip treated with the same regime between 1977 and 1988. The patients had an average age of 12 months (range 4-24). The average age at follow-up was 6 years (range 3-13).

Fractures of the proximal humeral epiphysis.

Twenty-two patients with marked displacement of a fracture of the proximal humeral epiphysis have been treated with closed or open reduction and fixation by Kirschner wires. At an average follow-up of 6.8 years there have been good functional results in almost all patients (91.

[Bone lengthening in congenital malformations of the lower limbs].

The authors analyse 21 patients with congenital inequaliti of the lower limbs that had been included on a lengthening programme. The shortening aetiology was: global hipoplasy (8p), congenital deficiency of the fibula isolated (5p) or associated to proximal femoral focal deficiency (PFFD) (3p), congenital short femur (3p) and congenital abscense of the tibia (2p) The authors evaluate the anticipated discrepancy at the end of growth, the lengthening that was obtained and the complications that had been arised. On the femur and tibia hipoplasy the authors equalize the length of the lower limbs in the 75% of the patients, at only one time of lengthening.