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BACKGROUND: Hypophosphatemia is mainly characterized by hypophosphatemia and a low level of 1alpha,25-Dihydroxyvitamin D2 (1,25-(OH)2 D2) and/or 1alpha,25-Dihydroxyvitamin D3 (1,25-(OH)2 D3) in the blood. Previous studies have demonstrated that variants in PHEX and FGF23 are primarily responsible for this disease. Although patients with variants of these two genes share almost the same symptoms, they exhibit the different hereditary pattern, X-link dominant and autosome dominant, respectively. Three-dimensional (3D) printing is a method which can accurately reconstruct physical objects, and its applications in orthopedics can contribute to realizing a more accurate surgical performance and a better outcome. METHODS: An X-linked hypophosphatemia (XLH) family was recruited, with four patients across three generations. We screened candidate genes and filtered a duplication variant in PHEX. Variant analysis and co-segregation confirmation were then performed. Before the operation of our patient, a digital model of our patient's leg had been rebuilt upon the CT scan data, and a polylactic acid (PLA) model had been 3D-printed. RESULTS: A novel duplication PHEX variant c.574dupG (p.A192GfsX20) was identified in a family with XLH. Its pathogenicity was confirmed by the co-segregation assay and online bioinformatics database. The preoperative plan was made with the help of the PLA model. Then, arch osteotomy and transverse osteotomy were performed under the guidance of the previous simulation. The appearance of the surgical-intervened leg was satisfactory. CONCLUSIONS: This study identified a novel PHEX variant and showed that 3D printing tech is a very promising approach for corrective osteotomies.
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Raquitismo Hipofosfatêmico Familiar , Hipofosfatemia , Raquitismo Hipofosfatêmico Familiar/genética , Raquitismo Hipofosfatêmico Familiar/cirurgia , Testes Genéticos , Humanos , Hipofosfatemia/genética , Endopeptidase Neutra Reguladora de Fosfato PHEX/genética , Impressão TridimensionalRESUMO
Objective: Pheochromocytoma is a rare catecholamine-producing neuroendocrine tumour originating from the chromaffin cells of the adrenal medulla or extra-adrenal paraganglia. However, there are few bibliometric studies on Pheochromocytoma. Therefore, this study was employed to summarize the global trends and current status in pheochromocytoma by bibliometric analysis. Materials and methods: The Web of Science (WOS) core collection database was searched for publications relating to pheochromocytoma from 2001 to 2021. Bibliometric analysis was used to examine the data, and Microsoft Excel was utilized to create bar graphs. In addition, VOSviewer was used to carry out co-authorship analysis, co-citation analysis and co-occurrence analysis. CiteSpace was used to analyze the keywords citation bursts. Results: A total of 8,653 publications published in 1,806 journals by 38,590 authors in 6,117 organizations from 100 countries/regions were included in our study. Among them, USA was the leading countries in terms of total publications and sum of time cited, whereas Eunice Kennedy Shriver Natl Inst Child Hlth & Hum was the leading institutions. The main publications for pheochromocytoma-related articles were Journal of clinical endocrinology &metabolism. Pacak karel and Eisenhofer Graeme were the main contributing authors. The studies on pheochromocytoma could be grouped into five clusters: Treatment, Mechanism, Etiology, Radiology and Hormones study. Moreover, the radiology study, etiology study and some specific keywords such germlines mutation, mesenchymal stem-cells, autophagy, neuroinflammation, neurotoxicity, and hemodynamic instability, may become the hot spots of future. Conclusion: Although the number of articles on pheochromocytoma has fluctuated slightly over the past 20 years, there has been an overall upward trend. In general, precision medicine research on pheochromocytoma, especially metastatic pheochromocytoma, in terms of diagnosis, treatment, and etiology will be a hot research topic in the future. This study helps to understand the research perspectives, hot spots and trends of pheochromocytoma and provide new insight and a basis for future pheochromocytoma research quickly.
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Neoplasias das Glândulas Suprarrenais , Medula Suprarrenal , Dermatite , Tumores Neuroendócrinos , Feocromocitoma , Criança , Humanos , BibliometriaRESUMO
OBJECTIVE: To develop a new internal fixation device and the matching tools for subtrochanteric fracture, investigate the biomechanical features thereof, and compare its effects with those of other instruments. METHODS: A new internal fixation device, static three dimensional screw-plate system: (STDSP) was developed based on the anatomical parameters and the biomechanical characteristics of proximal femur and combined with the biomechanical advantages of the model of three-dimensional plate and multiple-screws plate fixation. Sixteen paired cadaveric adult femurs were randomly divided into 2 equal groups: fracture healing group undergoing insertion of implant and then taking out thereof with a nail left, and fracture group with a trapezoid defect to mimic subtrochanteric fracture 4 of which were fixed with dynamic hip screw (DHS) and STDSP or Gamma nail and STDSP. All the specimens underwent A-P position four point bending test, axial compression test, torsion test, and destroyable test. RESULTS: (1) In the fracture group, A-P position four point bending test showed that the stretch displacement of STDSP group was (0.221 +/- 0.089) mm, significantly smaller than that of the Gamma nails group [(0.506 +/- 0.086) mm, t = 38.278 P = 0.000]; Axial compression test showed that the inferior displacement of the STDSP group was (2.804 +/- 0.585) mm, significantly larger than that of the Gamma nail group [(1.874 +/- 0.549) mm, t = -5.454, P = 0.012]; Torsion test showed that the torque values at 50 and 100 of the STDSP group were (3.78 +/- 0.84) J and (2.3 +/- 1.08) J, both significantly larger than those of the Gamma nail groups [(2.3 +/- 1.08) J and (4.35 +/- 1.81) J, t = -4.729 P = 0.018, and t = -3.227 P = 0.048] and those of the DHS group [(7.3 +/- 1.273) J and (4.325 +/- 0.88) J respectively, t = -3.242 P = 0.048]; and torsion destroyable test showed that the torque values at 200 of the STDSP group was (21.88 +/- 2.51) J, significantly larger than those of the Gamma nail and DHS groups, [(14.36 +/- 5.01) J and (15.475 +/- 1.924) J and (12.075 +/- 1.179) J, t = -3.323 P = 0.048, t = - 3.732 P = 0.034]. (2) In the fracture healing specimens, A-P position four point bending test showed that the radial degree displacement of the STDSP group was (1. 050 +/- 0.316) mm, significantly smaller than that of the DHS group [(1.261 +/- 0.364) mm, t = 3.4 P = 0.042]. CONCLUSIONS: More capable of resisting bending than DHS and less capable of resisting axial compression, STDSP is an excellent internal fixator with good biomechanical feature in treating subtrochanteric femoral fracture.
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Fenômenos Biomecânicos , Pinos Ortopédicos , Fixação Interna de Fraturas/instrumentação , Adulto , Placas Ósseas , Fraturas do Fêmur/cirurgia , Consolidação da Fratura , Humanos , Fixadores Internos , Teste de MateriaisRESUMO
OBJECTIVE: To design and manufacture a new type instrument and its matching tools for the proximal femur. METHODS: A new type instrument of subtrochanterical fracture-static 3-dimensional screw-plate system(STDSP)was designed and manufactured. The different types of accessory instruments which adapted to STDSP,the aiming guide, and the accessory tools were also designed and manufactured, and they were tested on bones. RESULTS: STDSP included 3 special lag screws and 1 anatomic plate. The lag screws distributed in femoral neck like "or"shape. There was 135 degree between the lag screws and femoral shaft. The shape of the plate was similar to the anatomic structure of the proximal thighbone. The posterior screw was stably connected to the plate. The plate was affixed crosswise to the lateral and anterior side by bicortical screws. The aiming guides and all kinds of accessory tools could help to install STDSP exactly and conveniently,which was verified on cadavers and X-ray photographs. CONCLUSION: STDSP has the function of dynamic compressing in 3-dimensional space, and can match with the structure of the proximal femur preferably. STDSP may be a suitable instrument to the subtrochanteric fractures. The accessory apparatus of STDSP has simple configuration,and can let the STDSP be installed accurately, conveniently and rapidly.
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Placas Ósseas , Parafusos Ósseos , Fixação Intramedular de Fraturas/instrumentação , Fraturas do Quadril/cirurgia , Cadáver , Desenho de Equipamento , HumanosRESUMO
OBJECTIVE: To compare the advantages and disadvantages among the conventional operative methods with the primary anterior debridement, intercentrum auto grafting, and anterior internal fixation method for the thoracolumbar spinal tuberculosis, and to discuss the applying principle. METHODS: Twenty-seven patients with thoracolumbar spinal tuberculosis were treated by the primary anterior debridement, intercentrum auto grafting, and anterior internal fixation, 8 patients were treated by focus debridement and intercentrum auto grafting operations, and the other 22 patients were treated by focus debridement from Feburary 1998 to July 2003, and we analysed the status of the grafting bone fused, the neural function resumed, the malformation rectified and the whole cure ratio. RESULTS: All patients were cured after the follow-up of 15.2 months averagely. Three thoracic spinal and 1 lumbar spinal tuberculosis patients who suffered local infection were cured by debridement and other managements. The time of beginning active movement postoperatively was shortened, and the degrees of kyphosis correction had increased in the anterior internal fixation group compared with the other two groups (P <0.05). But the cost and the bleeding resulted from operation had increased in the anterior internal fixation group compared with the other two groups (P <0.05). CONCLUSION: The conventional and the modern operation methods of thoracolumbar spinal tuberculosis have respective advantages and disadvantages, so that they can complement rather than replace each other.
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Vértebras Lombares/cirurgia , Procedimentos Ortopédicos/métodos , Vértebras Torácicas/cirurgia , Tuberculose da Coluna Vertebral/cirurgia , Adolescente , Adulto , Idoso , Sedimentação Sanguínea , Desbridamento/métodos , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-IdadeRESUMO
OBJECTIVES: miR-125b has been identified as a tumor suppressor in many tumors, but its role in giant cell tumor (GCT) of bone remains poorly understood. The current study aimed to investigate the potential role and mechanism of miR-125b in GCT. MATERIALS AND METHODS: Expression levels of miR-125b in GCT tissues were determined using RT-PCR. The cell proliferation was surveyed by direct cell counting, MTS and CCK-8, and the apoptotic cells were evaluated by Annexin V-FITC and propidium iodine staining assay. The target gene expression was determined using RT-PCR and western blot. Parathyroid hormone 1 receptor (PTH1R) 3'-UTR was cloned into luciferase reporter plasmid to confirm direct targeting. RESULTS: We found that miR-125b was significantly down-regulated in GCT tissues. Using both gain- and loss-of-function analyses, we further revealed that miR-125b suppressed GCT stromal cell proliferation and induced cell apoptosis. Furthermore, we revealed that PTH/PTHrP type 1 receptor is a direct and functional target of miR-125b. CONCLUSION: Our results suggest that miR-125b acts as a tumor suppressor through suppression of the PTH1R/RANKL signaling pathway. These findings contribute to our understanding of the functions of miR-125b in GCT.
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Venous crisis represents the most common complication in flap surgery and often results in flap failure. The gold standard for free flap monitoring is frequent clinical examination. The current study examined the systemic inflammatory response during the immediate post-operative period following flap venous crisis. Superficial epigastric artery perforator flap transplantation was performed in a total of 30 rabbits. Fifteen animals received venous obstruction by vein ligation (venous crisis group, n = 15) and others were sham treated (control group, n = 15). Venous thrombosis was examined by immunohistochemistry staining. Plasma levels of inflammatory response markers (IL-6, IL-8, TNF-α, and C-reactive protein) and thrombosis biomarkers (von Willebrand factor and tissue factor) were measured at 0, 2, and 4 h post-operation by enzyme-linked immunosorbent assay. The mRNA levels of relevant biomarkers in the flap were analyzed with quantitative real-time PCR. Flap histopathological examination showed erythrocyte and neutrophil aggregations in venous lumen and erythrocyte diapedesis. At 8 h post-operation, serious edema and fibrinoid necrosis were observed and the venous lumen was almost blocked by thrombus. The venous crisis group had higher plasma levels of IL-8, TNF-α, and thrombosis biomarkers. Vein ligation also increased the mRNA levels of IL-8, TNF-α, C-reactive protein, von Willebrand factor, and tissue factor in the flap. No significant change in IL-6 levels was observed between the control group and the venous crisis group. Flap venous crisis was accompanied by the increase in a number of inflammatory and thrombosis markers, both in the peripheral blood and the flaps.
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Mediadores da Inflamação/sangue , Retalhos Cirúrgicos/efeitos adversos , Trombose Venosa/sangue , Trombose Venosa/etiologia , Animais , Masculino , Coelhos , Trombose Venosa/patologiaRESUMO
OBJECTIVE: To investigate the effects of free and pedicled thoracodorsal artery perforator (TDAP) flaps for repairing skin and soft tissue defects in limbs, neck, axillary and shoulder. METHODS: From October 2009 to Auguest 2011, 16 TDAP flaps were used to repair skin and tissue defects. Among them, five ipsilateral pedicled flaps were used to repair wounds in neck, axillary and shoulder. 11 free TDAP flaps were used to repair the wounds with bone or tendon exposure. In 12 cases, the flaps were pedicled with thoracodorsal artery and vein-lateral branches-perforators, in 4 cases, pedicled with thoracodorsal artery and vein-serratus anterior muscular branches-perforators. The deep fascia, the latissimus dorsi and thoracodorsal nerve were not included in all flaps. The flaps size ranged from 10 cm x 5 cm to 26 cm x 10 cm. RESULTS: All 16 flaps survived completely with primary healing both at donor site and recipent area. After a follow-up of 3 to 24 months, all flaps gained good texture and appearance. Only linear scar was left at donor area. The shoulder could move freely. CONCLUSIONS: TDAP flap has good texture, long vascular pedicle,and reliable blood supply, leaving less morbidity at donor site. The latissimus dorsi and thoracodorsal nerve are also preserved. The pedicled TDAP flap is an ideal flap for repairing the ipsilateral skin and soft tissue defects of the neck, shoulder, axillary. The free TDAP flap is suited for repairing skin and soft tissue defects of the extremities.
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Retalho Perfurante/transplante , Ferimentos e Lesões/cirurgia , Artérias , Axila , Humanos , Músculo Esquelético , Retalhos Cirúrgicos/irrigação sanguínea , Retalhos Cirúrgicos/transplante , Parede Torácica , CicatrizaçãoRESUMO
Ahead of Print article withdrawn by publisher.
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OBJECT: With the increasing advocacy for total disc replacement (TDR) as a potential alternative to fusion in the management of lumbar degenerative disc disease, intradiscal pressures (IDPs) and facet joint stresses at the adjacent levels of spine have generated considerable interest. The purpose of this study was to compare adjacent-level IDPs and facet joint stresses among TDR, discectomy, and fusion. METHODS: Ten fresh human cadaveric lumbar specimens (L2-S1) were subjected to an unconstrained load in axial torsion, lateral bending, flexion, and extension by using multidirectional flexibility test. Four surgical treatment modes-control (disc intact), discectomy, TDR, and fusion-were tested in sequential order at L4-5. During testing, the IDPs and facet forces following each treatment were calculated at the adjacent vertebral levels (L3-4 and L5-S1). RESULTS: Intradiscal pressures and facet force pressures were similar between the intact condition and the TDR reconstruction at the L3-4 and L5-S1 levels under all loading conditions (p > 0.05). Compared with the intact and TDR groups, the discectomy and fusion groups had higher IDPs at the L3-4 and L5-S1 levels under all loading conditions (p < 0.05). No significant difference in the facet force pressure was noted among the intact, discectomy, and TDR groups at the L3-4 and L5-S1 levels under any loading conditions (p > 0.05). However, the facet force pressure produced for fusion was significantly higher than the mean values obtained for the intact, discectomy, and TDR groups at the L3-4 and L5-S1 levels under all loading conditions (p < 0.05). CONCLUSIONS: Lumbar TDR maintained adjacent-level IDPs and facet force pressures near the values for intact spines, whereas adjacent-level IDPs tended to increase after discectomy or fusion and facet forces tended to increase after fusion.