J Formos Med Assoc
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Complex arthroplasties for periacetabular metastatic lesions can result in complications including infection and prosthesis loosening owing to poor bone quality. A new surgical protocol has been developed as a joint-sparing surgery to avoid complications after arthroplasties. The main surgical steps are: (a) conservative and accurate tumor resection with aid of 3D printing model-assisted preoperative resection simulation and preparation of pre-contour plate, (b) reconstruction with structural bone graft through the sandwich technique for augmentation of subchondral bone. ⋯ With precise tumor resection and reconstruction with sandwich procedure, the joint-sparing surgery can be performed in selected patients with metastatic periacetabular tumors.
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Rotor syndrome is a rare, benign, inherited disorder that is commonly associated with mild hyperbilirubinemia. It is caused by bi-allelic pathological variants in both SLCO1B1 and SLCO1B3 genes, causing defective OATP1B1 and OATP1B3 in the sinusoidal membrane and interrupted bilirubin uptake of the hepatocytes. We report five Taiwanese pediatric and adult patients aged 5-32 years presenting with conjugated hyperbilirubinemia, and were found to have genetic variants of SLCO1B1 and SLCO1B3. ⋯ R253∗) in SLCO1B1 linked with c.1747+1G>A in SLCO1B3. In conclusion, we present the first time of genetic diagnosis of Rotor syndrome in Taiwan. Advanced genetic testing has enhanced the diagnosis of rare diseases with mild symptoms.