RESUMO
Multiple endocrine neoplasia type 2 (MEN2) is a neuroendocrine cancer syndrome characterized by medullary thyroid carcinoma, in combination or not with pheochromocytoma, hyperparathyroidism, and extra-endocrine features. MEN2 syndrome includes two clinically distinct forms subtyped as MEN2A and MEN2B. Nearly all MEN2 cases are caused by germline mutations of the RET proto-oncogene. In this review, we propose "5P" strategies for management of MEN2: prevention, prediction, personalization, psychological support, and participation, which could effectively improve clinical outcomes of patients. Based on RET mutations, MEN2 could be prevented through prenatal diagnosis or preimplantation genetic testing. Identification of pathogenic mutations in RET can enable early diagnosis of MEN2. Combining RET mutation testing with measurement of serum calcitonin, plasma or urinary metanephrine/normetanephrine, and serum parathyroid hormone levels could allow risk stratification and accurately prediction of MEN2 progression, thus facilitating implementation of personalized precision treatments to increase disease-free survival and overall survival. Furthermore, increased awareness of MEN2 is needed, which requires participation of physicians, patients, family members, and related organizations. Psychological support is also important for patients with MEN2 to promote comprehensive management of MEN2 symptoms. The "5P" strategies for management of MEN2 represent a typical clinical example of precision medicine. These strategies could effectively improve the health of MEN2 patient, and avoid adverse outcomes, including death and major morbidity, from MEN2.
Assuntos
Neoplasia Endócrina Múltipla Tipo 2a/terapia , Medicina de Precisão/métodos , Gerenciamento Clínico , Testes Genéticos , Humanos , Neoplasia Endócrina Múltipla Tipo 2a/diagnóstico , Neoplasia Endócrina Múltipla Tipo 2a/genética , Proto-Oncogene Mas , Proteínas Proto-Oncogênicas c-ret/genéticaRESUMO
BACKGROUND: Although many treatments for ipsilateral proximal and shaft femoral fractures have been developed, controversy exists regarding their optimal management. The purpose of this retrospective study was to discuss the effectiveness of the bridge-link type combined fixation system (BCFS) and evaluate functional outcomes in treating patients with these complex fractures. PATIENTS AND METHODS: We retrospectively reviewed 14 cases of ipsilateral proximal and shaft femoral fractures treated from January 2012 to December 2016. All cases were treated by BCFS combined with minimally invasive percutaneous plate osteosynthesis (MIPPO). Clinical and radiographic data were collected during regular post-operative follow-up visits. Functional outcomes were determined according to the Friedman and Wyman scoring system. RESULTS: The proximal femoral fractures were emergency diagnoses in 11 cases and delayed diagnoses in 3 cases. The delay time was 5-6 days, with an average of 5.3 days. The mean operation time was 179.6 min (range 135-231 min) with a blood loss volume that ranged from 430 to 535 ml (average 483.6 ml). Follow-up was conducted in 13 cases between 9 and 30 months post-operation, with an average follow-up time of 17.3 months. The proximal femoral fractures were united in 12 cases at the final follow-up. One case had nonunion 13 months after the operation, underwent valgus intertrochanteric osteotomy, and healed 6 months later. The femoral shaft fractures obtained rigid union at the latest follow-up in 12 cases. One case endured nonunion 12 months after the operation. After the revision surgery and iliac bone grafting, the fracture healed 6 months later. Eight of the cases had good functional results, 4 had fair results, and results were poor in 1 case at the final follow-up. CONCLUSIONS: The treatment of ipsilateral proximal femoral and shaft fractures with BCFS in combination with MIPPO demonstrated a high likelihood of union for both fractures and good functional results.