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INTRODUCTION: Interspinous process devices (IPDs) were developed as minimally invasive alternatives to open decompression surgery for spinal stenosis. However, given high treatment failure and reoperation rates, there has been minimal adoption by spine surgeons. This study leveraged a national claims database to characterize national IPD usage patterns and postoperative outcomes after IPD implantation. METHOD: Using the PearlDiver database, we identified all patients who underwent 1- or 2-level IPD implantation between 2010 and 2018. Univariate and multivariable logistic regression was performed to identify predictors of the number of IPD levels implanted and reoperation up to 3 years after the index surgery. Right-censored Kaplan-Meier curves were plotted for duration of reoperation-free survival and compared with log-rank tests. RESULTS: Patients (n = 4865) received 1-level (n = 3246) or 2-level (n = 1619) IPDs. Patients who were older (adjusted odds ratio [aOR] 1.02, 95% confidence interval [CI] 1.01-1.03, P < .001), male (aOR 1.31, 95% CI 116-1.50, P < .001), and obese (aOR 1.19, 95% CI 1.05-1.36, P < .01) were significantly more likely to receive a 2-level IPD than to receive a 1-level IPD. The 3-year reoperation rate was 9.3% of patients when mortality was accounted for during the follow-up period. Older age decreased (aOR 0.97, 95% CI 0.97-0.99, P = .0039) likelihood of reoperation, whereas 1-level IPD (aOR 1.37, 95% CI 1.01-1.89, P = .048), Charlson Comorbidity Index (aOR 1.07, 95% CI 1.01-1.14, P = .018), and performing concomitant open decompression increased the likelihood of reoperation (aOR 1.68, 95% CI 1.35-2.09, P = .0014). CONCLUSION: Compared with 1-level IPDs, 2-level IPDs were implanted more frequently in older, male, and obese patients. The 3-year reoperation rate was 9.3%. Concomitant open decompression with IPD placement was identified as a significant risk factor for subsequent reoperation and warrants future investigation.
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Descompressão Cirúrgica , Estenose Espinal , Humanos , Masculino , Idoso , Reoperação , Vértebras Lombares/cirurgia , Estenose Espinal/cirurgia , Estenose Espinal/etiologia , Fatores de Risco , Obesidade , Resultado do TratamentoRESUMO
STUDY DESIGN: This was a single-institution retrospective study. OBJECTIVE: Evaluate a magnetic resonance imaging (MRI)-scoring system to differentiate arthrodesis from pseudoarthrosis following anterior cervical discectomy and fusion. SUMMARY OF BACKGROUND DATA: Diagnostic workup following fusion surgery often includes MRI to evaluate neural structures and computed tomography (CT) and/or dynamic x-rays to evaluate instrumentation and arthrodesis. The use of MRI alone for these evaluations would protect patients from harmful CT and x-ray ionizing radiation. METHODS: Neurosurgical attending evaluated CTs for arthrodesis or pseudoarthrosis. Blinded neuroradiology attending and neurosurgery senior resident evaluated independent T1 and T2 region of interest (ROI) signal intensity over instrumented disk space. Cerebral spinal fluid (CSF) at the cisterna magnum and distal adjacent uninstrumented vertebral body (VB) were also calculated. ROI interspace /ROI CSF and ROI interspace /ROI VB quotients were used to create T1- and T2-interspace interbody scores (IIS). RESULTS: Study population (n=64 patients, 50% female) with a mean age of 51.72 years and 109 instrumented levels with 45 fused levels (41.3%) were included. T1-weighted MRI, median T1-IIS CSF for arthrodesis was 176.20 versus 130.92 for pseudoarthrosis ( P <0.0001), T1-IIS VB for arthrodesis was 68.52 and pseudoarthrosis was 52.71 ( P <0.0001). T2-weighted MRI, median T2-IIS CSF for arthrodesis was 27.72 and 14.21 for pseudoarthrosis ( P <0.0001), while T2-IIS VB for arthrodesis was 67.90 and 41.02 for pseudoarthrosis ( P <0.0001). The greatest univariable discriminative capability for arthrodesis via AUROC was T1-IIS VB (0.7743). CONCLUSION: We describe a novel MRI scoring system that may help determine arthrodesis versus pseudoarthrosis following anterior cervical discectomy and fusion. Postoperative symptomatic patients may only require MRI, which would protect patients from ionizing radiation. LEVEL OF EVIDENCE: Level IV.
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Pseudoartrose , Fusão Vertebral , Humanos , Feminino , Pessoa de Meia-Idade , Masculino , Estudos Retrospectivos , Pseudoartrose/cirurgia , Imageamento por Ressonância Magnética/métodos , Radiografia , Vértebras Cervicais/diagnóstico por imagem , Vértebras Cervicais/cirurgia , Vértebras Cervicais/patologia , Resultado do TratamentoRESUMO
Background: Magnetic resonance imaging (MRI) is not routinely ordered following spinal fusion. Some literature suggests MRIs are unhelpful due to postoperative changes that obscure interpretation. We aim to describe findings of acute postoperative MRI following anterior cervical discectomy and fusion (ACDF). Methods: The authors retrospectively analyzed adult MRIs completed within 30 days of ACDF (from 2005-2022). T1 and T2 signal intensity in the interbody space dorsal to the graft, mass effect on the dura/spinal cord, intrinsic spinal cord T2 signal, and interpretability were reviewed. Results: In 38 patients there were 58 ACDF levels (1, 2, and 3 levels; 23, 10, and 5, respectively). MRIs were completed on mean postoperative day 8.37 (range; 0-30 days). T1-weighted imaging was described as isointense, hyperintense, heterogenous, and hypointense in 48 (82.8%), 5 (8.6%), 3 (5.2%), and 2 levels (3.4%), respectively. T2-weighted imaging was described as hyperintense, heterogenous, isointense, and hypointense in 41 (70.7%), 12 (20.7%), 3 (5.2%), and 2 levels (3.4%), respectively. There was no mass effect in 27 levels (46.6%), 14 (24.1%) had thecal sac compression, and 17 (29.3%) had cord compression. Conclusions: The majority of MRIs exhibited readily compression and intrinsic spinal cord signal even with various types of fusion constructs. Early MRI after lumbar surgery can be difficult to interpret. However, our results support the use of early MRI to investigate neurological complaints following ACDF. Our findings do not support the idea that epidural blood products and mass effect on the cord are seen in most postoperative MRIs after ACDF.
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Trichorhinophalangeal syndromes (TRPSs) are rare hereditary syndromes with autosomal dominant inheritance. Patients exhibit abnormalities including bulbous pear-shaped nose, broad columella, and long and flat philtrum, fine, sparse, brittle, slow-growing scalp hair, skeletal abnormalities, and short stature. Three families; age at subependymoma surgery, pathogenic TRPS1(NM_014112.5) variant, and subependymoma number are described.
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Glioma Subependimal , Síndrome de Langer-Giedion , Humanos , Síndrome , Síndrome de Langer-Giedion/patologia , Nariz , Dedos/patologia , Proteínas RepressorasRESUMO
BACKGROUND: Occipital neuralgia is a painful condition that is believed to occur from processes that affect the greater, lesser, or third occipital nerves. Diagnosis is often made with a combination of classical symptoms, tenderness over the occipital region, and response to occipital nerve blocks. Cervical computed tomography or MRI may be obtained in multiple positions to detect any impingement. Diagnosis can be made with MRI tractography. Nonsurgical treatments include local anesthetic and steroid injections, anticonvulsant medications, botulinum toxin injections, physical therapy, acupuncture, transcutaneous electrical stimulation, cryoneurolysis, and radiofrequency ablation. Surgical treatments include greater occipital nerve decompression, C2 root section, intradural dorsal root rhizotomy, C1-2 fusion, and occipital nerve stimulation. Although stimulation has been favored in the past decade, complications and maintenance of the devices have led us to return to C2 ganglionectomy. OBJECTIVE: To report on the use of a minimally invasive technique for C2 ganglionectomy to treat occipital neuralgia. METHODS: Review demographic, surgery, and outcome data of a minimally invasive C2 root ganglionectomy used to treat to 2 patients with occipital neuralgia. RESULTS: We report on 2 patients with clinically stereotypical unilateral occipital neuralgia confirmed by greater occipital nerve block, but with no imaging correlate. Both were successfully managed by C2 ganglionectomy through an 18-mm tubular retractor and outpatient surgery. Accompanying text, still photographs, and video describe the technique in detail. CONCLUSION: Minimally invasive C2 ganglionectomy can be used to successfully treat occipital neuralgia.
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Neuralgia , Raízes Nervosas Espinhais , Humanos , Resultado do Tratamento , Raízes Nervosas Espinhais/diagnóstico por imagem , Raízes Nervosas Espinhais/cirurgia , Neuralgia/cirurgia , Neuralgia/etiologia , Cervicalgia , PescoçoRESUMO
OBJECTIVE: The purpose of this study is to examine the utilization of kyphoplasty/vertebroplasty procedures in the management of compression fractures. With the growing elderly population and the associated increase in rates of osteoporosis, vertebral compression fractures have become a daily encounter for spine surgeons. However, there remains a lack of consensus on the optimal management of this patient population. METHODS: A retrospective analysis of 91 million longitudinally followed patients from 2016 to 2019 was performed using the PearlDiver Patient Claims Database. Patients with compression fractures were identified using International Classification of Disease, 10th Revision codes, and a subset of patients who received kyphoplasty/vertebroplasty were identified using Common Procedural Terminology codes. Baseline demographic and clinical data between groups were acquired. Multivariable regression analysis was performed to determine predictors of receiving kyphoplasty/vertebroplasty. RESULTS: A total of 348,457 patients with compression fractures were identified with 9.2% of patients receiving kyphoplasty/vertebroplasty as their initial treatment. Of these patients, 43.5% underwent additional kyphoplasty/vertebroplasty 30 days after initial intervention. Patients receiving kyphoplasty/vertebroplasty were significantly older (72.2 vs. 67.9, p < 0.05), female, obese, had active smoking status and had higher Elixhauser Comorbidity Index scores. Multivariable analysis demonstrated that female sex, smoking status, and obesity were the 3 strongest predictors of receiving kyphoplasty/vertebroplasty (odds ratio, 1.27, 1.24, and 1.14, respectively). The annual rate of kyphoplasty/vertebroplasty did not change significantly (range, 8%-11%). CONCLUSION: The majority of vertebral compression fractures are managed nonoperatively. However, certain patient factors such as smoking status, obesity, female sex, older age, osteoporosis, and greater comorbidities are predictors of undergoing kyphoplasty/vertebroplasty.
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Cervical disk protrusion is a common pathology. Anterior diskectomy and fusion is considered the gold standard of treatment, although anterior arthroplasty has gained some acceptance in the past decade as an alternative. Posterior cervical minimally invasive diskectomy is a rarely used technique, and there is less literature discussing this procedure. We have found this technique to be useful in lateral, soft disk herniations not ventral to the cord or mineralized. This avoids an anterior approach with risk to the cervical viscera, the dysphagia associated with an anterior approach, the need for expensive implanted instrumentation, and the need for prolonged activity restrictions after an anterior approach. We include a Video 1 documenting the technique of minimally invasive posterior cervical diskectomy (anatomic landmarks of interest are labeled at several points during the video). This is achieved prone on an OSI Jackson table (Mizuho OSI, Union City, California, USA) without skeletal fixation. A stepwise technique is used to advance an 18-mm tube retractor into contact with the facet and lateral lamina. A 5-mm smooth diamond drill is used to perform a foraminotomy. To avoid nerve root or spinal cord manipulation, it is often necessary to remove some of the rostral aspect of the inferior pedicle to gain access to the axilla and disk protrusion. The procedure is rapid, well tolerated, and performed as outpatient, and it results in a rapid return to normal activity.
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Discotomia/métodos , Deslocamento do Disco Intervertebral/cirurgia , Procedimentos Cirúrgicos Minimamente Invasivos/métodos , HumanosRESUMO
BACKGROUND: The deleterious effect of diabetes mellitus on surgical outcomes is well documented for joint replacement surgery. We analyzed the large national US Department of Veterans Affairs (VA) database for patients who had undergone elective spinal surgery. METHODS: We retrospectively searched the VA database and identified 174 520 spine cases. RESULTS: There were 7766 (4.5%) wound infections and 49 271 (28%) had hemoglobin A1c (HbA1c) testing (range: 3.0-17.8) prior to surgery. In the preoperative HbA1c-checked group, there were 2941 (6.0% of 49 271) infections and in the without-preoperative HbA1c group, there were 4825 (3.9% of 125 249) infections. The distribution of infections was significantly different (χ2 = 372.577, P < .0001) and suggests a 2.12% increase in the absolute risk of infection based on the presence of preoperative HbA1c testing, regardless of the result. Logistic regression revealed a preoperative HbA1c test was associated with an odds ratio of 1.435 for infection (confidence interval 1.367-1.505, P < .0001). In a separate model based on HbA1c levels, we found that HbA1c is a significant predictor of infection with an odds ratio of 1.042 (confidence interval 1.017-1.068, P = .0009) for each 1% increase in the test result. This analysis differs from using a strict cutoff value of HbA1c of 6.5%. Similar testing for body mass index and age yielded an odds ratio of 1.027 for each increase of 1 kg/m2 and an odds ratio of 1.009 for each 1-year increase in age respectively. CONCLUSIONS: Hemoglobin A1c testing, HgA1c value, body mass index, and age all contribute to the risk of wound infection after elective spine surgery in a large national VA population. These data can be used to estimate surgical risks and to aid in patient counseling about proposed spine surgery. LEVEL OF EVIDENCE: 4.
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BACKGROUND: Currently, 37% of adults in the United States are obese, and 34% are overweight. Obesity poses a particularly complex challenge in spinal surgery management, whereby risk of adverse surgical outcomes increases with increased body mass index (BMI). When patients are counseled to reduce weight to levels associated with acceptable surgical risks, patients often respond that their spinal problems prohibit the exercise needed to lose the required weight and counter that surgery will allow for increased activity and thereby facilitate weight loss. A retrospective study of a US Veterans Affairs (USVA) nationwide patient database was undertaken. METHODS: A request was made of the USVA Corporate Data Warehouse for data on all patients undergoing elective spine surgery for degenerative conditions over a 10-year period. RESULTS: The mean preoperative age of 65 667 patients identified was 59 years. The mean preoperative weight was 91.8 kg, and BMI was 29.2. Before surgery, 26 772 patients had a BMI of >30. After surgery, 12 564 (46.9%) lost at least 2.3 kg, 9450 (35.3%) gained at least 2.3 kg, and 4758 (17.8%) were unchanged. After surgery, 4853 (18.1%) lost at least 11.3 kg and 1360 (5.1%) lost at least 22.7 kg. At a mean of 1.9 years after index surgery, mean postoperative weight was 92.5 kg, and BMI was 29.4. Of the 65 667 patients, 23 125 (35.2%) patients lost at least 2.3 kg, 27 571 (42.0%) gained at least 2.3 kg, and 14 971 (23.0%) remained within 2.3 kg of their preoperative weight. CONCLUSION: The study results will aid in counseling patients regarding realistic expectations about weight loss after spinal surgery. LEVEL OF EVIDENCE: 4. CLINICAL RELEVANCE: This evidence will allow for realistic patient counseling regarding the likelihood of weight loss after elective spinal surgery.
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INTRODUCTION: Polyetheretherketone (PEEK) rods for lumbar fusion have been available since 2007. However, literature about their utility is sparse and of mixed outcomes. METHODS: A retrospective review of PEEK rod lumbar fusion cases was performed. Data were analyzed from 108 patients of the senior author Donald Ross who underwent PEEK lumbar fusion. RESULTS: There were 97 single and 11 2-level fusions. Rates of tobacco use, diabetes mellitus, low bone density, depression, and immunosuppression were 23.1%, 24.1%, 14.8%, 32.4%, and 6.5%, respectively. In the study population, the mean age was 60.2 years, body mass index was 30.1, and there was a mean 31.3 months for follow-up. There were no wound infections or new neurologic deficits. Of 81 patients with > 11 months of follow-up, 70 (86.4%) had an arthrodesis, 8 (9.9%) had no arthrodesis, and 3 (3.7%) were indeterminate. No patients had revision fusion surgery and 2 patients had adjacent level fusions at 27 and 60 months. One patient had an adjacent segment laminectomy at 18 months and one a foraminotomy at 89 months, resulting in a 3.7% adjacent segment surgery rate. Mean preoperative Short Form-36 (SF-36) physical functioning (PF) score and Oswestry Disability Index (ODI) score were 28.9 and 24.8, respectively. Mean SF-36 PF postoperative score at 1 and 2 years were 59.3 and 65, respectively. Mean ODI postoperative score at 1 year was 14.5. CONCLUSIONS: In a large patient cohort lumbar fusion with PEEK rods can be undertaken with low complication rates, satisfactory clinical improvements, low rates of hardware failure or need for revision surgery. Longer follow-up is needed to confirm findings.
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STUDY DESIGN: This was a retrospective study of 2 surgeons' use of a single polyetheretherketone (PEEK) device. OBJECTIVE: Our objective was to investigate the fusion adjunct placed within PEEK devices to examine the likelihood of an arthrodesis, regardless of the PEEK interbody device itself. SUMMARY OF BACKGROUND DATA: The effectiveness of PEEK interbody devices in anterior cervical arthrodesis has been questioned. METHODS: The authors retrospectively reviewed the results of 121 patients with demineralized bone matrix (DBM) and 96 with local autograft bone placed within identical PEEK devices for anterior cervical arthrodesis (from 2011 to 2018); 1 surgeon used DBM and another local autograft bone. Arthrodesis was determined independently by a surgeon and 2 blinded neuroradiologists. RESULTS: For DBM versus autograft; mean age was 60 versus 61 years, smoking status 42.1% versus 31%, diabetes mellitus 18.2% versus 28%, mean body mass index 31 versus 30, and follow up averaged 17 months in both groups. For DBM versus autograft; a radiographic arthrodesis was observed in 22.3% versus 76% of patients. Refusion at the index level was required in 5.8% of the DBM and 0% of the autograft patients. CONCLUSIONS: A PEEK interbody device filled with local autograft resulted in a higher radiographic fusion rate and a lower need for reoperation at the index level than an identical device filled with DBM. Caution is warranted in assigning fusion failure to the PEEK device alone in anterior cervical discectomy and fusion surgery.
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Vértebras Cervicais , Fusão Vertebral , Benzofenonas , Vértebras Cervicais/diagnóstico por imagem , Vértebras Cervicais/cirurgia , Discotomia , Humanos , Cetonas/uso terapêutico , Pessoa de Meia-Idade , Polietilenoglicóis , Polímeros , Estudos RetrospectivosRESUMO
BACKGROUND: In the medicolegal literature, focal concavities or notching of the corpus callosum has been thought to be associated with fetal alcohol spectrum disorders. Recent work suggests corpus callosum notching is a dynamic and normal anatomical feature, although it has not yet been defined in early life or infancy. OBJECTIVE: Our purpose was to characterize the dorsal contour of the corpus callosum during the first 2 years of life by defining the prevalence, onset and trajectory of notching on midsagittal T1-weighted images. MATERIALS AND METHODS: We reviewed retrospectively 1,157 consecutive patients between birth and 2 years of age. Corpus callosum morphology was evaluated and described. A notch was defined as a dorsal concavity of at least 1 mm in depth along the dorsal surface of the corpus callosum. Patient age as well as notch depth, location, number and presence of the pericallosal artery in the notch were noted. RESULTS: Two hundred thirty-three notches were identified in 549 patients: 36 anterior, 194 posterior and 3 patients with undulations. A statistically significant (R2=0.53, Beta=0.021, P=0.002) positive correlation between posterior notch prevalence and age in months was noted. A positive correlation between age and depth of the posterior notch was also statistically significant (r=0.32, n=179, P≤0.001). A trend for increased anterior notch prevalence with age was identified with significant correlation between visualized pericallosal artery indentation and anterior notching (r=0.20, n=138, P=0.016). Sub-analysis of the first month of life showed corpus callosum notching was not present. CONCLUSION: The presence of posterior notching increased significantly with age and was more frequent than that of anterior notching. Corpus callosum notching was absent in the first week of life, building on prior studies suggesting corpus callosum notching is acquired. This study provides baseline data on normative corpus callosum notching trajectories by age group during early life, a helpful correlate when associating corpus callosum morphology with disease.
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Corpo Caloso/diagnóstico por imagem , Corpo Caloso/crescimento & desenvolvimento , Imageamento por Ressonância Magnética/métodos , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Estudos RetrospectivosRESUMO
BACKGROUND: Cervical spondylotic myelopathy often affects elderly and fragile patients who are not optimal candidates for major surgical procedures. Here, we report patients previously judged not suitable for cervical surgery, who were successfully treated with minimally invasive (MI) cervical decompressions without complications. METHODS: Retrospectively, we reviewed medically fragile patients (e.g., too many comorbidities), previously deemed unsuitable for surgery who successfully tolerated MI cervical decompressions. The accompanying preoperative comorbidities, surgical risks, complications, and neurological outcomes were assessed. RESULTS: Three male patients, with a mean age of 73 years, exhibited an average preoperative modified Japanese Orthopedic Association (mJOA) score of 8. The preoperative Charlson comorbidity indices, the Elixhauser comorbidity indices (respectively averaging 5.7 and 5.7 points, the preoperative Edmonton fragility index (average 12 points), and national surgical quality improvement program risks were calculated. Surgical times averaged 185 min and patients were followed for an average of 11.3 months. No patient had any immediate or delayed postoperative complications. The length of hospital stay was 1 day for each patient. The postoperative mJOA scores averaged 11, which was clinically significant. Further, the postoperative magnetic resonance imaging obtained approximately 3 months postoperative demonstrated adequate cord decompression. CONCLUSION: Medically fragile patients with significant cervical spondylotic myelopathy but major comorbidities precluding major surgery successfully underwent MI cervical decompressions.
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OBJECTIVE: Cervical spondylotic myelopathy is a common cause of neurological disability, especially in aging populations. There are several approaches to decompress the cervical spinal cord, including anterior cervical discectomy and fusion, corpectomy and fusion, arthroplasty, posterior cervical laminectomy with or without fusion, and laminoplasty. Less well described is minimally invasive cervical laminectomy. The authors report their technique and results for minimally invasive cervical laminectomy. MATERIALS AND METHODS: The authors describe in detail their surgical technique and results of 30 consecutive cases. Preoperative and postoperative modified Japanese Orthopaedic Association (mJOA) myelopathy scores were recorded. RESULTS: In total, 30 cases were included. Mean age was 69 years (range, 57-89 y). Twelve procedures were at C3-4, 4 at C4-5, 5 at C5-6, 4 at C7-T1, 3 at C3-4 and C4-5, 1 at C4-5 and C5-6, and 1 at C5-6 and C6-7. Mean preoperative mJOA score was 12.1 (range, 4-15). Average length of surgery was 142 minutes. Mean follow-up was 27 months (range, 3-64 mo). At 3 months, mean postoperative mJOA score was 14.0 (range, 5-17). Mean mJOA improvement of 1.9 was statistically significant (P<0.001). Seventeen patients had magnetic resonance imaging (MRI) available at 3 months postoperatively (5 patients had no MRI, 3 patients had MRI contraindications, and 5 are pending). No MRI findings led to further surgery. There were no durotomies and no wound infections. A single patient had an unexplained new neurological deficit that resolved over 6 months. CONCLUSIONS: Minimally invasive laminectomy for cervical myelopathy is safe and effective and may be an underutilized procedure.
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Vértebras Cervicais/cirurgia , Laminectomia , Procedimentos Cirúrgicos Minimamente Invasivos , Doenças da Medula Espinal/cirurgia , Espondilose/cirurgia , Idoso , Idoso de 80 Anos ou mais , Vértebras Cervicais/diagnóstico por imagem , Descompressão Cirúrgica , Humanos , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Doenças da Medula Espinal/diagnóstico por imagem , Espondilose/diagnóstico por imagemRESUMO
BACKGROUND: Posterior cervical foraminotomy is a long utilized and commonly performed procedure, but has been supplanted in many cases by anterior procedures. With the advent of minimally invasive techniques, posterior foraminotomy may again deserve a prominent place in the treatment of cervical foraminal stenosis. OBJECTIVE: To report in detail a successfully utilized minimally invasive technique and the results in a large series of patients, by a single author. METHODS: The technique is described and illustrated in detail. A retrospective review of the use of this technique in a large series is reported. RESULTS: Precise details of the technique are described with specific attention to complication avoidance. In over 360 cases, there have been no nerve root injuries other than idiopathic C5 palsies, no wound infections, and a single durotomy that required no specific treatment. CONCLUSION: Minimally invasive posterior cervical foraminotomy is a well-tolerated and effective procedure which can be performed with minimal complications when attention to detail is maintained.
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Vértebras Cervicais/cirurgia , Constrição Patológica/cirurgia , Foraminotomia/métodos , Procedimentos Cirúrgicos Minimamente Invasivos/métodos , Fluoroscopia , Foraminotomia/instrumentação , Humanos , Imageamento por Ressonância Magnética , Procedimentos Cirúrgicos Minimamente Invasivos/instrumentação , Estudos RetrospectivosRESUMO
Subependymoma is a rare primary brain tumor, constituting 0.07-0.51% of brain tumors. Genetic alterations in subependymoma are largely unknown, but familial occurrences have been reported. Trichorhinophalangeal syndrome type 1 (TRPS1) is a rare hereditary malformation complex caused by mutations in a gene identified in the year 2000 on 8q24.12. We report two patients with TRPS I and surgically treated subependymomas, one of whom has a first degree relative, now deceased, who was affected and also had a subependymoma. We therefore sought a role for the TRPS1 gene in the molecular oncogenesis of subependymoma. Formalin fixed tumor specimens and saliva samples were obtained from the two index patients as well as tumor samples from six sporadic subependymoma surgical specimens. A heterozygous TRPS1 germ line mutation predicted to cause a frame shift leading to a premature stop codon was found in the first index patient and also present in the associated tumor. No germline mutation was found in the second index patient, but his tumor displayed copy number neutral loss of heterozygosity in TRPS1. TRPS1 mutation analysis of the sporadic subependymomas revealed genetic, mostly loss of function alterations in one-third (two of six) of samples. Genetic alterations in TRPS1 likely play a role in at least a subgroup of subependymomas. Confirmation and further (epi)genetic investigations, ideally in newly acquired, fresh-frozen tumor samples, are warranted.
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Neoplasias Encefálicas/genética , Neoplasias Encefálicas/fisiopatologia , Proteínas de Ligação a DNA/genética , Glioma Subependimal/genética , Glioma Subependimal/fisiopatologia , Mutação/genética , Fatores de Transcrição/genética , Adulto , Análise Mutacional de DNA , Feminino , Humanos , Masculino , Proteínas RepressorasRESUMO
STUDY DESIGN: Clinical case series. OBJECTIVE: This study sought to clarify symptoms, diagnostic criteria, and treatment of C4 radiculopathy, and the role of diagnostic C4 root block in this entity. SUMMARY OF BACKGROUND DATA: Although well understood cervical dermatomal/myotomal syndromes have been described for symptoms originating from impingement on the C2, C3, C5, C6, C7, and C8 roots, less has been written about the syndrome(s) associated with the C4 root. METHODS: The senior author reviewed surgical records and describes his personal experience with the diagnosis and treatment of C4 radiculopathy. RESULTS: A total of 712 procedures for cervical radiculopathy without myelopathy were reviewed. Among that cohort, 13 procedures involved the C4 root only and five procedures involved two level procedures including the C4 root. Patients described pain as involving the axial cervical region, paraspinal muscles, trapezius muscle, and interscapular region. No patient described pain over the anterior chest wall or radiating distal to the shoulder, one described pain over the medial clavicle. All patients who were offered surgery had a positive response to a diagnostic C4 transforaminal single nerve root block. Thirteen patients underwent posterior foraminotomy (five at two levels) and five patients underwent an anterior discectomy and fusion at C3-4. Mean Oswestry Disability Index score significantly declined; preoperative score 24.3 (range 14-29), postoperative score 9.7 (range 2-18; Pâ=â0.003) at ≥3 months. Mean Short Form-36v2 score significantly increased; preoperative score 34.2 (range 20-40.2), postoperative score 73.7 (range 40.5-88.3, Pâ=â0.001) at ≥3 months. CONCLUSION: C4 root symptoms overlap those of the C3 and C5 roots and are very similar to facet mediated pain. Asymptomatic C4 foraminal stenosis may be a common imaging finding, it can be difficult to diagnose C4 radiculopathy clinically. Diagnostic C4 root block can make an accurate diagnosis and lead to successful surgical outcomes. LEVEL OF EVIDENCE: 4.