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The use of pedicle screws in low bone quality patients implicates risks of secondary implant loosening for grip lack. In fact, the result is a reduced mechanical stability at bone-screw interface and consequently an increased chance of pullout and hardware failure. Augmentation techniques have been described for many years and fenestrated screws that allow cement injection is one of them. This is a retrospective observational study of patients treated at our department with polymethylmethacrylate- (PMMA) augmented fenestrated screws. Indications for posterior instrumentation were traumatic fracture in osteoporotic spine, oncological disease, post-traumatic deformity, degenerative disease, revision surgery and sickle cell disease fractures. Implant stability was evaluated with X-Rays and CT scan performed 3 days after surgery and every 3 months during the follow-up. Accuracy of screw placement was evaluated with Heary classification. Fifty-three surgical treatments in 52 patients were performed and 247 PMMA augmented fenestrated screws were placed. According to the Heary classification, 96.21% resulted Grade I, 1.8% Grade II, 2% Grade IV. A total of 17 complications occurred. Fenestrated screw augmentation should be performed in selected patients in whom the bone quality is insufficient to guarantee implant stability. These screws may result useful in complex cases as revision surgeries, osteoporosis and tumour affections where bone quality is highly compromised.
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Cimentos Ósseos , Parafusos Pediculares , Polimetil Metacrilato , Fenômenos Biomecânicos , Humanos , Estudos Observacionais como Assunto , Procedimentos Ortopédicos , Estudos RetrospectivosRESUMO
Vertebral fusion is performed in order to stabilize the spine in the presence of degenerative, traumatic or oncological pathologies that alter its stability. The autologous bone, harvested from the patient's iliac crest or from the lamina during surgery, is still considered the "gold standard" for spine fusion due to its osteogenic, osteoinductive and osteoconductive properties. However, several biological and synthetic bone substitutes have been introduced as alternatives for regenerating bone tissue. We have studied in particular the use of ceramic biomaterials prepared from hydroxypatite (HA), starting from in vitro analysis, through an in vivo study on ovine animal model and a post-market surveillance analysis, to finally design and perform a clinical study, which is ongoing in our Department. In the first step, HA-derived biomaterials were tested in vitro in the presence of bone marrow-derived human mesenchymal stem cells (hMSCs) and evaluated for their ability to activate precursor cells. In the second step, the biomimetic bone graft substitute SintLife® putty (MgHA) was evaluated in vivo. A posterolateral fusion procedure was applied on 18 sheep, where a fusion level was treated with MgHA, while the other level was treated with autologous bone. Microtomography and histological/histomorphometric analysis were performed six months of after surgery. In the third step, we reported the results of a post-market surveillance study conducted on 4 independent cohorts of patients (total 115 patients), in which HA-derived biomaterials were used as bone graft substitutes or extenders. Finally, a clinical study has been designed and approved by the Ethics Committee of our Institute and is currently ongoing. This study aims to evaluate the efficacy of the ceramic biomaterial SintLife® putty for bone replacement in patients treated by posterolateral fusion for degenerative spine disorders. HA biomaterials were effective in promoting the in vitro growth of hMSCs and their osteogenic differentiation. In the animal model, SintLife® putty has been effective in generating neo-formed bone tissue with morphological and structural features similar to those of the pre-existing bone. The post-market surveillance analysis has not reported any intra-operative nor early or late post-operative adverse events. Seven patients are currently recruited for the clinical trial designed to evaluate Sintlife efficacy for spine fusion (FU range: 1-7 months). No adverse events have been recorded. The first CT analysis performed at 6 months FU showed a good spine fusion. The study is ongoing. Our results, obtained from in vitro, preclinical and clinical studies, suggest that biomaterials derived from hydroxyapatite could be a valid alternative to autologous bone graft for vertebral fusion. This would potentially avoid or reduce the need of autologous bone harvesting and therefore, the risk of drawback-related side effects.
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AIM: This study is a retrospective consecutive case series analysis of 198 patients who underwent spine surgery between 2009 and 2010. The aim of this paper was to assess the efficacy and safeness of bed rest and lumbar drainage in treating postoperative CSF fistula. Postoperative cerebrospinal fluid (CSF) fistula is a well-known complication in spine surgery which lead to a significant change in length of hospitalization and possible postoperative complications. Management of CSF leaks has changed little over the past 20 years with no golden standard advocated from literature. METHODS: Postoperative CSF fistulas were described in 16 of 198 patients (8%) who underwent spine surgery between 2009 and 2010. The choice of the therapeutic strategy was based on the clinical condition of the patients, taking into account the possibility to maintain the prone position continuously and the risk of morbidity due to prolonged bed rest. Six patients were treated conservatively (position prone for three weeks), ten patients were treated by positioning an external CSF lumbar drainage for ten days. The mean follow-up period was ten months. RESULTS: All patients healed their wound properly and no adverse events were recorded. Patients treated conservatively were cured in a mean period of 30 days, while patients treated with CSF drainage were cured in a mean period of 10 days. CONCLUSION: Lumbar drainage seems to be effective and safe both in preventing CSF fistula in cases of large dural tears and debilitated/irradiated patients and in treating CSF leaks.
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Rinorreia de Líquido Cefalorraquidiano/cirurgia , Fístula/líquido cefalorraquidiano , Fístula/cirurgia , Complicações Pós-Operatórias/cirurgia , Drenagem/efeitos adversos , Dura-Máter/cirurgia , Feminino , Humanos , Masculino , Complicações Pós-Operatórias/prevenção & controle , Estudos Retrospectivos , Resultado do TratamentoRESUMO
PURPOSE: Computer-assisted navigation systems are largely used for pedicle screws positioning in degenerative and traumatic spine surgery. In oncologic spine surgery its use is still developing and could be extended for tumor identification and excision. Aim of this paper is to present our experience. METHODS: Seven selected patients (5 females, 2 males), mean age 44 years (min 17-max 62) affected by primary benign or malignant tumors of the spine or spine metastases were surgically treated with the use of computer-assisted navigation system from March to October 2011. RESULTS: At 18 months mean F.U. (min 15-max 23), no LR were observed. Revision surgery was necessary only in one case for C1 pedicle screw malpositioning. CONCLUSIONS: Navigation system can improve surgical accuracy in screws placement and tumor localization and excision. Learning curve and technical aspects must be considered to avoid potential serious mistakes.
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Neoplasias da Coluna Vertebral/cirurgia , Cirurgia Assistida por Computador/métodos , Adolescente , Adulto , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Adulto JovemRESUMO
We described an algorithm for the management of spinal metastases in which the importance of single parameters varies depending on when they are contemplated. Each patient follows his own "personal" sequential process which does not necessarily consider all the parameters each time as some may be irrelevant for the purpose of choosing the type of treatment for that single individual. For instance, a patient in general poor condition with a high "ASA" score is usually not a candidate for surgery, regardless of the primary tumor nature or the number of metastases. For this patient, the most important element would be the sensitivity of the tumor to adjuvant treatment. Similarly, a patient with acute and progressive spinal cord injury would undergo surgical decompression and stabilization without considering a more strenuous intervention.
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We described an algorithm for the management of spinal metastases in which the importance of single parameters varies depending on when they are contemplated. Each patient follows his own «personal¼ sequential process which does not necessarily consider all the parameters each time as some may be irrelevant for the purpose of choosing the type of treatment for that single individual. For instance, a patient in general poor condition with a high ASA score is usually not a candidate for surgery, regardless of the primary tumor nature or the number of metastases. For this patient, the most important element would be the sensitivity of the tumor to adjuvant treatment. Similarly, a patient with acute and progressive spinal cord injury would undergo surgical decompression and stabilization without considering a more strenuous intervention.
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Spine infections require a multidisciplinary approach to be treated and solved. A guide line to drive physicians in the deep complexity of such a disease is extremely helpful. SIMP suggests a flow-chart built up on clear concepts such as right and well managed antibiotic therapy, sound stability of the spine, correct and smart use of the standard and functional imaging techniques, such as f18 FDG PET/CT. In 16 months a total of 41 patients have been treated for spondylodiscitis, discitis and vertebral osteomyelitis by our team of physicians and 25 patients have been enrolled in a prospective study whose target is the assessment of the SIMP flow-chart and of every single aspect that characterize it.
Assuntos
Doenças Ósseas Infecciosas/diagnóstico , Doenças Ósseas Infecciosas/terapia , Doenças da Coluna Vertebral/diagnóstico , Doenças da Coluna Vertebral/terapia , Adulto , Idoso , Idoso de 80 Anos ou mais , Antibacterianos/uso terapêutico , Discite/diagnóstico , Discite/terapia , Feminino , Fluordesoxiglucose F18 , Guias como Assunto , Humanos , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Osteomielite/diagnóstico , Osteomielite/terapia , Tomografia por Emissão de Pósitrons , Estudos Prospectivos , Compostos Radiofarmacêuticos , Coluna Vertebral/patologia , Tomografia Computadorizada por Raios X , Adulto JovemRESUMO
OBJECTIVE: Experience of Department of Oncologic and Degenerative Spine Surgery of Rizzoli Orthopaedic Institute during SARS-CoV-2 pandemic lockdown. PATIENTS AND METHODS: Retrospective observational study of surgically treated patients from 09th March 2020 to 04th May 2020. DATA COLLECTED: age, sex, type of disease, neurological status, days of hospitalization, complications and type of discharge. A comparison analysis with same period of the last year was performed in order to evaluate the impact of COVID-19 spreading on daily surgical activity. RESULTS: A total of 107 surgical procedures in 102 patients were performed from 09th March 2020 to 04th May 2020. Analysis showed a statistically significant difference in age, sex, ASIA class and type of treated disease compared to the same period of the last year (p=0.042, 0.006, 0.022 and 0.007, respectively). No statistically significant differences were observed in type of discharge, length of hospitalization and complications (p= 0.447, 0.261 and 0.127, respectively). 3 COVID-19 infections have been identified in hospitalized patients. 1 COVID-19 patient wad admitted from Emergency Department and was managed according to a dedicated path. CONCLUSIONS: Surgical activity was paradoxically increased during SARS-CoV-2 pandemic lockdown through the management of urgent and non-deferrable spinal disease with a low rate (3,9%) of COVID-19 infections.
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Betacoronavirus/isolamento & purificação , Infecções por Coronavirus/cirurgia , Infecções por Coronavirus/virologia , Neoplasias/cirurgia , Neoplasias/virologia , Pneumonia Viral/cirurgia , Pneumonia Viral/virologia , Coluna Vertebral/cirurgia , Coluna Vertebral/virologia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , COVID-19 , Criança , Feminino , Humanos , Itália , Masculino , Pessoa de Meia-Idade , Pandemias , Estudos Retrospectivos , SARS-CoV-2 , Adulto JovemRESUMO
OBJECTIVE: Up to 70% of patients with cancer are likely to develop spine metastasis. Radiation therapy is the standard of care for painful spinal metastases in absence of unstable or impending fractures. More frequently these patients require open palliative surgery for pain, vertebral collapse and neurological deficits. Minimally Invasive Spine Surgery (MISS) techniques using percutaneous pedicle screw fixation may be considered as an alternative to open surgery in selected cases. MISS techniques are thought to be associated with fewer tissues damages resulting in early pain relief, they also allow for early mobilization and optimization of function. PATIENTS AND METHODS: From 2011 to 2018, 52 patients affected by spinal metastasis were treated with MISS techniques in Rizzoli Orthopaedic Institute of Bologna and in Cisanello Hospital of Pisa, Italy. All patients underwent percutaneous pedicle screw fixations (PPSF) coupled with mini-decompressions in case it was required by spinal cord compressions. All patients were evaluated pre and post-operatively by Frenkel classification and VAS scores. RESULTS: Mean follow-up time was 19,4 months. Preoperatively, Frankel scores were E in 37 patients, D3 in 6 patients, D2 in 3 cases, D1 in 3 patients, B in one patient and C in two. The Frankel score improved in 10 patients, remained stable in 40 patients and worsened in two patients. Preoperatively, the mean VAS score in 29 patients treated with PPSF procedure with spinal decompression was 7, while postoperatively, it became 5. In 23 patients who underwent only PPSF procedure without spinal decompression mean VAS score was 5, postoperatively it became 3. CONCLUSIONS: In selected cases, MISS surgeries may be considered as a valid alternative to open surgery. Although the efficacy of PPSF has been well documented in trauma or degenerative spine surgery, there is not sufficient literature about MISS techniques in spinal metastasis and further studies are needed to elucidate the most appropriate patient in which this approach could represent the gold standard of treatment.
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Procedimentos Cirúrgicos Minimamente Invasivos/métodos , Procedimentos Cirúrgicos Minimamente Invasivos/normas , Neoplasias da Coluna Vertebral/diagnóstico por imagem , Neoplasias da Coluna Vertebral/cirurgia , Idoso , Feminino , Seguimentos , Humanos , Vértebras Lombares/diagnóstico por imagem , Vértebras Lombares/cirurgia , Masculino , Pessoa de Meia-Idade , Reprodutibilidade dos Testes , Estudos Retrospectivos , Neoplasias da Coluna Vertebral/secundário , Vértebras Torácicas/diagnóstico por imagem , Vértebras Torácicas/cirurgia , Resultado do TratamentoRESUMO
OBJECTIVE: Even though carbon ions treatment (CIRT) of sacral chordoma (SC) substantially reduces tumor mass, tumor remnants are observed in most patients. Differentiating tumor remnants from necrosis is challenging, expensive in terms of imaging and time-consuming. So far, there has not been a systematic histological and metabolic analysis of post-CIRT lesions. We designed a prospective study aiming to histologically a metabolically differentiate between viable tumor and foci of necrosis and of fibrosclerosis after CIRT and correlate these findings to clinical outcome in patients with SC. PATIENTS AND METHODS: Between January 2013 and December 2016 18 patients, 12 males and 6 females, with histological confirmation of sacral chordoma, underwent CIRT. The total dose was 70.4 GyE, with a daily fraction of 4.4 GyE, for 4 weeks. MRI was performed every three months after treatment. FDG PET-CT scan and CT-guided needle biopsy were performed 6-12 months after CIRT. The incidence of complications (intraoperative and postoperative), local control (LC), overall survival (OS) and progression-free survival (PFS), changes in neurological status, clinical outcomes and toxicity were considered. RESULTS: All histological analysis but 2 reported signs of necrosis and of fibrosclerosis after CIRT. One of these 2 patients turned into a dedifferentiated chordoma. Radiological partial response (PR) was observed in 10 patients (56.3%) and stable disease (SD) in 5 patients (28.3). Two patients (11%) had a local relapse. The overall survival rate was 100% at 24 months. FDG PET CT after CIRT showed uptake decreasing compared with the baseline exam in all but one patient. CONCLUSIONS: The histological presence of necrosis and of fibrosclerosis after CIRT at the histological analysis supports the previous clinical evidence on the efficacy of CIRT. Volumetric stability of the residual mass should be considered as a success of treatment. In cases of a volumetric increase of the mass, a CT needle biopsy should always be performed. In our series, during the follow-up, the FDG-PET was able to promptly detect an increased uptake in the case which later was histologically defined as dedifferentiated chordoma.
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Cordoma/patologia , Radioterapia com Íons Pesados , Adulto , Idoso , Idoso de 80 Anos ou mais , Carbono/química , Cordoma/diagnóstico por imagem , Cordoma/mortalidade , Cordoma/radioterapia , Eritema/etiologia , Feminino , Radioterapia com Íons Pesados/efeitos adversos , Humanos , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Parestesia/etiologia , Tomografia por Emissão de Pósitrons combinada à Tomografia Computadorizada , Intervalo Livre de Progressão , Sacro/patologia , Taxa de SobrevidaRESUMO
Describimos un algoritmo para el manejo de las metástasis espinales en el que la importancia de los parámetros individuales varía dependiendo del momento en el que se contemplan.Cada paciente sigue su propio proceso secuencial «personal» que no necesariamente considera todos los parámetros cada vez, ya que algunos pueden ser irrelevantes a la hora de elegir el tipo de tratamiento para ese individuo. Por ejemplo, un paciente en mal estado general con una puntuación ASA alta generalmente no es candidato para la cirugía, independientemente de la naturaleza del tumor primario o del número de metástasis. Para este paciente, el elemento más importante sería la sensibilidad del tumor al tratamiento adyuvante. Del mismo modo, un paciente con lesión aguda y progresiva de la médula espinal se sometería a descompresión quirúrgica y estabilización sin considerar una intervención más agresiva.(AU)
We described an algorithm for the management of spinal metastases in which the importance of single parameters varies depending on when they are contemplated.Each patient follows his own «personal» sequential process which does not necessarily consider all the parameters each time as some may be irrelevant for the purpose of choosing the type of treatment for that single individual. For instance, a patient in general poor condition with a high ASA score is usually not a candidate for surgery, regardless of the primary tumor nature or the number of metastases. For this patient, the most important element would be the sensitivity of the tumor to adjuvant treatment. Similarly, a patient with acute and progressive spinal cord injury would undergo surgical decompression and stabilization without considering a more strenuous intervention.(AU)
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Humanos , Masculino , Feminino , Metástase Neoplásica/terapia , Equipe de Assistência ao Paciente , Neoplasias da Coluna Vertebral/terapia , Descompressão Cirúrgica , Procedimentos Ortopédicos , Metástase Neoplásica/diagnóstico por imagem , Neoplasias da Coluna Vertebral/diagnóstico por imagem , Neoplasias da Coluna Vertebral/cirurgia , Registros , TraumatologiaRESUMO
Describimos un algoritmo para el manejo de las metástasis espinales en el que la importancia de los parámetros individuales varía dependiendo del momento en el que se contemplan.Cada paciente sigue su propio proceso secuencial «personal» que no necesariamente considera todos los parámetros cada vez, ya que algunos pueden ser irrelevantes a la hora de elegir el tipo de tratamiento para ese individuo. Por ejemplo, un paciente en mal estado general con una puntuación ASA alta generalmente no es candidato para la cirugía, independientemente de la naturaleza del tumor primario o del número de metástasis. Para este paciente, el elemento más importante sería la sensibilidad del tumor al tratamiento adyuvante. Del mismo modo, un paciente con lesión aguda y progresiva de la médula espinal se sometería a descompresión quirúrgica y estabilización sin considerar una intervención más agresiva.(AU)
We described an algorithm for the management of spinal metastases in which the importance of single parameters varies depending on when they are contemplated.Each patient follows his own «personal» sequential process which does not necessarily consider all the parameters each time as some may be irrelevant for the purpose of choosing the type of treatment for that single individual. For instance, a patient in general poor condition with a high ASA score is usually not a candidate for surgery, regardless of the primary tumor nature or the number of metastases. For this patient, the most important element would be the sensitivity of the tumor to adjuvant treatment. Similarly, a patient with acute and progressive spinal cord injury would undergo surgical decompression and stabilization without considering a more strenuous intervention.(AU)
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Humanos , Masculino , Feminino , Metástase Neoplásica/terapia , Equipe de Assistência ao Paciente , Neoplasias da Coluna Vertebral/terapia , Descompressão Cirúrgica , Procedimentos Ortopédicos , Metástase Neoplásica/diagnóstico por imagem , Neoplasias da Coluna Vertebral/diagnóstico por imagem , Neoplasias da Coluna Vertebral/cirurgia , Registros , TraumatologiaRESUMO
OBJECTIVE: Aneurysmal Bone Cyst (ABC) is a cystic lesion of bone, occurring in 70% of cases as a primary lesion. Even if the metaphyseal region of long bones is more frequently involved, vertebral localization is not rare: ABC represents 15% of all primary spine and sacral tumours. Selective arterial embolization (SAE) represents the first treatment option for vertebral ABC. However, in few cases, multiple SAEs are not possible. The aim of this work is to report two cases of vertebral ABC unresponsive to SAE positively treated with Denosumab. PATIENTS AND METHODS: Two patients affected by ABC of the lumbar spine were treated by SAE without any response. Thus, the patients were submitted to an off-label treatment with Denosumab, following the same protocol already used in case of Giant Cell Tumour (GCT): 120 mg once a week for 4 weeks consecutively, then once every 40 days. RESULTS: In both cases, patients resulted to be pain-free after 11-13 Denosumab administrations and CT scan showed almost complete ossification of the lesions. CONCLUSIONS: The two cases reported here are not conclusive but they may support the project of a prospective study to confirm the effectiveness of Denosumab in ABC treatment as an alternative to SAE.
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Cistos Ósseos Aneurismáticos/tratamento farmacológico , Conservadores da Densidade Óssea/uso terapêutico , Adolescente , Adulto , Denosumab , Humanos , Masculino , Sacro , Resultado do TratamentoRESUMO
OBJECTIVE: Iliac crest bone graft (ICBG) is considered the gold standard for spine surgical procedures to achieve a successful fusion, because of its known osteoinductive and osteoconductive properties. Considering its autogenous origin, the use of ICBG has not been associated to an increase of intraoperative or postoperative complications directly related to the surgery. However, complications related to the harvesting procedure and to the donor site morbidity have been largely reported in the literature, favoring the development of a wide range of alternative products to be used as bone graft extenders or substitutes for spine fusion. The family of ceramic-based bone grafts has been widely used and studied during the last years for spine surgical procedures in order to reduce the need for iliac crest bone grafting and the consequent morbidity associated to the harvesting procedures. PATIENTS AND METHODS: We report here the results of a post-market surveillance analysis performed on four independent cohorts of patients (115 patients) to evaluate the safety of three different formulations of hydroxyapatite-derived products used as bone graft extenders/substitutes for lumbar arthrodesis. RESULTS: No intraoperative or post-operative complications related to the use of hydroxyapatite-derived products were detected, during medium and long follow up period (minimum 12 months-maximum 5 years). CONCLUSIONS: This post-market surveillance analysis evidenced the safety of ceramic products as bone graft extenders or substitutes for spine fusion. Moreover, the evidence of the safety of hydroxyapatite-derived products allows to perform clinical studies aimed at evaluating the fusion rates and the clinical outcomes of these materials as bone graft extenders/substitutes, in order to support their use as an alternative to ICBG for spine fusion.
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Transplante Ósseo/métodos , Durapatita/uso terapêutico , Ílio/transplante , Região Lombossacral/cirurgia , Vigilância de Produtos Comercializados/métodos , Fusão Vertebral/métodos , Adulto , Idoso , Idoso de 80 Anos ou mais , Transplante Ósseo/efeitos adversos , Estudos de Coortes , Feminino , Humanos , Masculino , Pessoa de Meia-IdadeRESUMO
INTRODUCTION: Spinal bone metastases may be lytic or sclerotic lesions. Sometimes aneurismal bone cyst (ABC)-like areas (also called "secondary ABC") can be found in giant-cell tumors, osteoblastomas and chondroblastomas but are rare in metastatic tumors. CASE REPORT: A retrospective study on 518 patients surgically treated for metastatic lesions of the spine from 1995 to 2012 was performed to evaluate the radiographic presentation. We propose a case report of a metastatic lesion associated with imaging features suggestive of aneurismal bone cyst. The patient was treated by intralesional surgery, after embolization of the lesion. CONCLUSIONS: Fluid-fluid levels detected on imaging can be found in bone metastases and may be similar to a primary aneurismal bone cyst. Embolization of metastastic tumor was useful to help the surgeon.
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Adenocarcinoma , Cistos Ósseos Aneurismáticos/diagnóstico , Neoplasias Pulmonares , Neoplasias da Coluna Vertebral , Adenocarcinoma/diagnóstico por imagem , Adenocarcinoma/patologia , Adenocarcinoma/cirurgia , Adenocarcinoma/terapia , Adenocarcinoma de Pulmão , Líquidos Corporais , Cistos Ósseos Aneurismáticos/diagnóstico por imagem , Cistos Ósseos Aneurismáticos/etiologia , Cistos Ósseos Aneurismáticos/terapia , Embolização Terapêutica , Feminino , Humanos , Neoplasias Pulmonares/diagnóstico por imagem , Neoplasias Pulmonares/patologia , Neoplasias Pulmonares/cirurgia , Neoplasias Pulmonares/terapia , Imageamento por Ressonância Magnética , Pessoa de Meia-Idade , Neoplasias da Coluna Vertebral/diagnóstico por imagem , Neoplasias da Coluna Vertebral/secundário , Neoplasias da Coluna Vertebral/cirurgia , Neoplasias da Coluna Vertebral/terapia , Tomografia Computadorizada por Raios XRESUMO
Myoepithelioma is a very rare tumour. This tumor type has been reported in the soft tissue, ear, sinonasal cavity, breast and lung. Although rare, myoepithelioma can occur in bone. We present the first case of myoepithelioma in the spine, documenting the clinical, radiographic and pathological features.
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Mioepitelioma , Neoplasias da Coluna Vertebral , Vértebras Torácicas , Humanos , Masculino , Pessoa de Meia-Idade , Mioepitelioma/diagnóstico por imagem , Mioepitelioma/patologia , Mioepitelioma/cirurgia , Tomografia por Emissão de Pósitrons , Neoplasias da Coluna Vertebral/diagnóstico por imagem , Neoplasias da Coluna Vertebral/patologia , Neoplasias da Coluna Vertebral/cirurgia , Vértebras Torácicas/diagnóstico por imagem , Vértebras Torácicas/patologia , Vértebras Torácicas/cirurgia , Tomografia Computadorizada por Raios XRESUMO
Familial dysautomonia (FD, or Riley-Day syndrome) is a rare but fatal autosomal recessive peripheral neuropathy caused by a point mutation in I-κ-B kinase complex associated protein (IKBCAP) gene. The disease, that affects primarily people of Ashkenazi Jewish origin, prejudices the development of primary sensory neurons determining depletion of autonomic and sensory neurons. Musculoskeletal problems include: spinal deformities, foot deformities, fractures and arthopathies. In this article we review a case of a 34 years old male of non-Jewish origin affected by FD presenting L2-L3 kyphosis and inability to walk due to chronic L2-L3 spondylodiscitis not surgically treated 14 years before as acute disease. De novo spondylodiscitis affecting patients presenting FD and its subsequent management was not previously described in the literature.