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Major histocompatibility complex class I (MHC-I) has been implicated in several types of neuroplasticity phenomena. Interferon beta-1b (IFN-β) increases MHC-I expression by motoneurons after sciatic nerve crush in mice, improving axonal growth and functional recovery. Additionally, IFN-β induces glial hypertrophy associated with upregulation of glial fibrillary acidic protein (GFAP) and MHC-I in murine astrocytes in vitro. As knowledge about MHC-I and its role in synaptic plasticity in human astrocytes (HAs) is scarce, we investigated these aspects in mature HAs obtained from the neocortex of patients undergoing surgery due to hippocampal sclerosis. Cells were exposed to media in the absence (0 IU/ml) or presence of IFN-β for 5 days (500 IU/ml). Beta-2 microglobulin (β2m), a component of the MHC-I, GFAP and vimentin proteins, was quantified by flow cytometry (FC) and increased by 100%, 60% and 46%, respectively, after IFN-β exposure. We also performed qRT-PCR gene expression analyses for β2m, GFAP, vimentin, and pro- and anti-inflammatory cytokines. Our data showed that IFN-β-treated astrocytes displayed β2m and GFAP gene upregulation. Additionally, they presented a proinflammatory profile with increase in the IL-6 and IL-1β genes and a tendency to upregulate TNF-α. Moreover, we evaluated the effect of HAs conditioned medium (CM) on the formation/maintenance of neurites/synapses by the PC12 lineage. Synaptophysin protein expression was quantified by FC. The CM of IFN-β-activated astrocytes was not harmful to PC12 neurites, and there was no change in synaptophysin protein expression. Therefore, IFN-β activated HAs by increasing GFAP, vimentin and MHC-I protein expression. Like MHC-I modulation and astrocyte activation may be protective after peripheral nerve damage and in some neurodegenerative conditions, this study opens perspectives on the pathophysiological roles of astroglial MHC-I in the human CNS.

It is well accepted among craniofacial surgeons that surgery does not improve mental status but does prevent worsening or deterioration of cognitive and mental function. In this report, we describe significant improvement in behavioral, learning skills and visual acuity for a Crouzon patient who underwent late posteriorvault distraction osteogenesis.A 9-year-old Crouzon patient was referred to our hospital, presenting severe intracranial hypertension. The patient had previously undergone a strip craniectomy in early infancy at another medical institution, but there was no subsequent follow-up. Magnetic resonance imaging showed Chiari type I malformation and fundoscopy revealed papilledema. At the time of referral, the patient was not attending a regular school, had not acquired reading skills, was unable to concentrate, and could not accomplish school-related tasks that were standard for children in his age group.The patient underwent posterior vault distraction osteogenesis and showed concentration improvement and acquisition of fluent reading skills. Chiari type I malformation resolved as well as papilledema. visual acuity improved at Snellen test preoperatively from 20/200 to 20/60 at postoperative test. Ventricle size remained unchanged subsequent to performance of the posterior cranial vault distraction. The occipital veins were less visible upon clinical examination and less pronounced when palpated, and the bruit had completely disappeared.Late posterior vault distraction osteogenesis can improve behavioral, learning skills and visual acuity as shown in this 9-year-old Crouzon patient.

In this study, the authors present the outcomes of 4 patients with a severe form of Crouzon syndrome characterized by mutation of fibroblast growth factor receptor 2 (FGFR2) c.1040 CG p.Ser347Cys or the pathogenic c.1061CG p.Ser354Cys variant of FGFR2, who underwent posterior vault distraction osteogenesis (PVDO) to alleviate elevated intracranial pressure.Patients with diagnosed Crouzon syndrome who were found by genetic testing to have an FGFR2 c.1040 CG p.Ser347Cys mutation or the c.1061CG p.Ser354Cys variant were included. Outcome data and presence of hydrocephalus, Chiari Malformation type I (CMIs), and the presence/absence of a tracheostomy were recorded.Three patients with the FGFR2 c.1040 CG p.Ser347Cys mutation and 1 with the pathogenic FGFR2 c.1061CG p.Ser354Cys variant were identified as having characteristics of severe Crouzon syndrome. The mean age at PVDO was 15 months and the mean posterior advancement was 20 mm. All 4 patients experienced sufficient relief of the elevated intracranial pressure from the PVDO to prevent the need for shunt placement, stabilize the ventricular dimensions (n = 2), and resolve the CMIs (n = 2). Intracranial pressure screening ruled out malignant cerebrospinal fluid volume increase.PVDO effectively prevented hydrocephalus and resolved CMIs, successfully alleviating intracranial pressure and maximizing clinical outcomes for patients with severe Crouzon syndrome.

We compared the proteomic signatures of the hippocampal lesion induced in three different animal models of mesial temporal lobe epilepsy with hippocampal sclerosis (MTLE+HS): the systemic pilocarpine model (PILO), the intracerebroventricular kainic acid model (KA), and the perforant pathway stimulation model (PPS).We used shotgun proteomics to analyze the proteomes and find enriched biological pathways of the dorsal and ventral dentate gyrus (DG) isolated from the hippocampi of the three animal models. We also compared the proteomes obtained in the animal models to that from the DG of patients with pharmacoresistant MTLE+HS.We found that each animal model presents specific profiles of proteomic changes. The PILO model showed responses predominantly related to neuronal excitatory imbalance. The KA model revealed alterations mainly in synaptic activity. The PPS model displayed abnormalities in metabolism and oxidative stress. We also identified common biological pathways enriched in all three models, such as inflammation and immune response, which were also observed in tissue from patients. However, none of the models could recapitulate the profile of molecular changes observed in tissue from patients.Our results indicate that each model has its own set of biological responses leading to epilepsy. Thus, it seems that only using a combination of the three models may one replicate more closely the mechanisms underlying MTLE+HS as seen in patients.

Objective We aimed to better characterize the magnetic resonance imaging (MRI) findings of mild malformation of cortical development with oligodendroglial hyperplasia (MOGHE), a rare clinicopathological entity associated with pharmacoresistance recently described in patients with frontal lobe epilepsy. Methods We studied 12 patients who underwent epilepsy surgery and whose surgical specimens showed histopathological findings of MOGHE, characterized by preserved cortical lamination, blurred gray-white matter interface due to increased number of oligodendrocytes, and heterotopic neurons in the white matter. The age at MRI evaluation ranged from 11 to 58 years, except for one 4.5-year-old patient. Results Following a detailed MRI analysis using an in-house protocol, we found abnormalities in all cases. The lesion was circumscribed in the frontal lobe in six (50%) and in the temporal lobe in three (25%) patients. In the remaining three patients (25%), the lesion was multilobar (frontotemporal and temporoparieto-occipital). Cortical thickening was mild in all patients, except in the 4.5-year-old patient, who had pronounced cortical thickening and white matter blurring. We also identified cortical/subcortical hyperintense T2/fluid-attenuated inversion recovery signal associated with gray/white matter blurring in all but one patient. When present, cleft cortical dimple, and deep sulci aided in localizing the lesion. Overall, the MRI findings were like those in focal cortical dysplasia (FCD) Type IIa. Surgical outcome was excellent in five patients (Engel Class I in 25% and II in 17%). The remaining seven patients (58%) had worthwhile seizure reduction (Engle Class III). Incomplete lesion resection was significantly associated with worse outcomes. Significance MRI findings associated with MOGHE are similar to those described in FCD Type IIa. Although more frequent in the frontal lobe, MOGHE also occurred in the temporal lobe or involved multiple lobes. Multilobar or extensive MOGHE MRI lesions are associated with less favorable surgical outcomes. Because this is a rare condition, multicenter studies are necessary to characterize MOGHE further.

The most commonly occurring syndromic craniosynostoses are Apert syndrome, Crouzon syndrome, Pfeiffer syndrome, and Saethre-Chotzen syndrome. There is insufficient data regarding postoperative syndrome–related outcomes following the posterior vault distraction osteogenesis (PVDO) procedure, as well as data addressing whether or not additional procedures will be subsequently necessary to comprehensively treat children who undergo PVDO. Thus, the objective of this study is to describe and compare syndrome-related potential complications and outcomes associated with the PVDO procedure. An observational retrospective study was performed on consecutive patients (n=24) with Apert syndrome, Crouzon syndrome, Pfeiffer syndrome, or Saethre-Chotzen syndrome, respectively, who underwent PVDO between 2012 and 2019. Demographic data (patient gender and age when the PVDO procedure was performed), diagnosis, surgery-related data, and outcome data (perioperative and midterm complications and need for additional surgery) were verified. Total relative blood transfusion volumes per kilogram for the patients were as follows: 22.75 ± 9.30 ml for Apert syndrome, 10.73 ± 2.28 ml for Crouzon syndrome (Apert versus Crouzon, p

Craniofrontonasal dysplasia (CFND) is a rare congenital craniofacial syndrome characterized by single suture synostosis, hypertelorism, other clinical facial features, and abnormalities in the upper extremities. There are only a few studies in the applicable literature that address hypertelorism management for CFND patients and outcomes and complication rates. A retrospective study was performed on consecutive late presenting CFND patients referred to our hospital with substantially completed craniofacial skeleton growth, who underwent hypertelorism correction between 2007 and 2019 following intracranial pressure screening, and who received at least 1 year of follow-up care. None of the patients in this study underwent prior craniofacial surgery. Only those patients with a confirmed mutation of the EFNB1 gene were included in this study. All patients in this study underwent hypertelorism correction by facial bipartition or box osteotomy. A total of ten late presenting CFND patients (all female) were treated at our hospital during the study period. None of the patients presented signs of elevated intracranial pressure. The average patient age at hypertelorism correction was 13.4 ± 7.68 years of age. Major complications, defined as complications requiring a return to the operating room, were limited to infection of the frontal bone, which required partial bone removal, and cerebrospinal fluid (CSF) leak, which was completely resolved by insertion of a lumbar shunt for a 7-day period. The absence of elevated intracranial pressure enables hypertelorism correction in late presenting CFND patients via facial bipartition or box osteotomy without the need for additional operations that provide for cranial expansion.

OBJECTIVE The objective of this study was to evaluate the efficacy and safety of a modified surgical approach for the treatment of temporal lobe epilepsy secondary to hippocampal sclerosis (HS). This modified approach, called temporopolar amygdalohippocampectomy (TP-AH), includes a transsylvian resection of the temporal pole and subsequent amygdalohippocampectomy utilizing the limen insula as an anatomical landmark. METHODS A total of 61 patients who were diagnosed with HS and underwent TP-AH between 2013 and 2017 were enrolled. Patients performed pre- and postoperative diffusion tensor imaging and were classified according to Engel’s scale for seizure control. To evaluate the functional preservation of the temporal stem white-matter fiber tracts, the authors analyzed postoperative Humphrey perimetries and pre- and postoperative neurocognitive performance (Rey Auditory Verbal Learning Test [RAVLT], Weschler Memory Scale–Revised [WMS-R], intelligence quotient [IQ], Boston Naming Test [BNT], and semantic and phonemic fluency). Demographic data and surgical complications were also recorded and described. RESULTS After a median follow-up of 36 ± 16 months, 46 patients (75.4%) achieved Engel class I, of whom 37 (60.6%) were Engel class IA. No significant changes in either the inferior frontooccipital fasciculus and optic radiation tractography were observed postoperatively for both left- and right-side surgeries. Reliable perimetry was obtained in 40 patients (65.6%), of whom 27 (67.5%) did not present any visual field defects (VFDs) attributable to surgery, while 12 patients (30%) presented with quadrant VFD, and 1 patient (2.5%) presented with hemifield VFD. Despite a significant decline in verbal memory (p = 0.007 for WMS-R, p = 0.02 for RAVLT recognition), there were significant improvements in both IQ (p < 0.001) and visual memory (p = 0.007). Semantic and phonemic fluency, and scores on the BNT, did not change postoperatively. CONCLUSIONS TP-AH provided seizure control similar to historical temporal lobe approaches, with a tendency to preserve the temporal stem and a satisfactory incidence of VFD. Despite a significant decline in verbal memory, there were significant improvements in both IQ and visual memory, along with preservation of executive function. This approach can be considered a natural evolution of the selective transsylvian approach.

We present here the unique case of a patient with a Tessier 1-13 rare facial cleft accompanied by cleft lip and palate and Tessier grade 2 hypertelorism. The patient described in this article has a twin brother who shares a number of genetic traits and physical features but does not present facial cleft or hypertelorism. The 45-year follow-up in this case is believed to be the longest follow-up to date to have been reported in the literature, and sheds significant light on the importance of extended longitudinal follow-up to maximize patient outcomes.

Anaplastic gangliogliomas (AGG) are rare tumors of the central nervous system (CNS) that commonly affect children and young adults, with an unusual infratentorial presentation, which is related to hydrocephalus and a worse prognosis. We report a case of a brainstem AGG in a 2-year-old boy who underwent a ventriculoperitoneal shunting (VPS) and later presented peritoneal metastasis. We also reviewed the related literature. Even though rare, disease dissemination through VPS should be sought in patients with CNS tumors and VPS who develop new abdominal symptoms. The early diagnosis and intervention may minimize morbidity and improve quality of life of such patients.

Monobloc advancement is a complex procedure used to treat patients with syndromic craniosynostosis. Studies directly addressing the long-term stability of monobloc advancement with distraction osteogenesis are underreported in the literature. The objectives of this study were to assess 5-year midface bone stability following monobloc advancement performed on patients with syndromic craniosynostosis, identify risk factors for relapse, and present strategies for prevention and management of complications.An observational retrospective study was performed on consecutive patients with Apert, Crouzon, or Pfeiffer syndrome (n = 23) who underwent monobloc advancement using distraction osteogenesis between 1994 and 2013. A total of 130 lateral cephalograms were used to assess both long-term stability after monobloc advancement with distraction osteogenesis and risk factors for relapse. All serious complications were identified and recorded. The analysis of variance test was used to assess horizontal relapse of the midface and mandibular plane.Cephalometric analysis revealed long-term stability of frontofacial advancement using distraction osteogenesis, regardless of the presence of tested variables. Serious complications arising from monobloc advancement using distraction osteogenesis included cerebrospinal fluid leakage in six patients (26 percent), accompanying meningitis in two patients (8.7 percent), seizures in seven patients (30.4 percent), and impaired visual acuity in one eye of one patient (4.3 percent).Frontofacial monobloc advancement with distraction osteogenesis provides long-term midface bone stability.Therapeutic, IV.

Focal cortical dysplasia is a highly epileptogenic cortical malformation with few treatment options. Here, we generated human cortical organoids from patients with focal cortical dysplasia type II. Using this human model, we mimicked some focal cortical dysplasia hallmarks, such as impaired cell proliferation, the presence of dysmorphic neurons and balloon cells, and neuronal network hyperexcitability. Furthermore, we observed alterations in the adherens junctions zonula occludens-1 and partitioning defective 3, reduced polarization of the actin cytoskeleton, and fewer synaptic puncta. Focal cortical dysplasia cortical organoids showed downregulation of the small GTPase RHOA, a finding that was confirmed in brain tissue resected from these patients. Functionally, both spontaneous and optogenetically-evoked electrical activity revealed hyperexcitability and enhanced network connectivity in focal cortical dysplasia organoids. Taken together, our findings suggest a ventricular zone instability in tissue cohesion of neuroepithelial cells, leading to a maturational arrest of progenitors or newborn neurons, which may predispose to cellular and functional immaturity and compromise the formation of neural networks in focal cortical dysplasia.

BACKGROUND Presenting a wide clinical spectrum and large variety of clinical features, successful treatment of Apert syndrome necessitates performance of sequential multiple surgeries before a patient's facial skeleton growth is complete.The objective of this study is to compare forehead contour asymmetry and clinical outcomes between Apert patients who underwent either fronto-orbital advancement (FOA) or posterior vault distraction osteogenesis (PVDO). METHODS A retrospective study was performed on consecutive patients with Apert syndrome who underwent either FOA or PVDO between 2007 and 2019, and participated in at least 6 months of follow-up care. Forehead contour asymmetry and surgical outcomes for each of the included patients were verified through medical records, clinical photographs, and interviews with the parents of the patients. The need for additional craniofacial procedures based on the surgical outcomes of each patient was graded from I to IV utilizing the Whitaker outcome classification system. RESULTS Forehead contour asymmetry for all included patients was rated under the Whitaker grading scale as type II (n = 4) 44.4%, type III (n = 2) 22.2%, and type IV (n = 3) 33.3% for FOA, and type I (n = 5) 35.7%, type II (n = 7) 50%, and type III (n = 2) 14.3%, for PVDO (P

Monobloc and facial bipartition combined with distraction osteogenesis (MFBDO) has gained popularity over the past several years as a treatment of syndromic craniosynostosis, in part because this surgical technique effectively removes many stigmatic clinical features associated with the syndromic face. The objective of this study is to detail the surgical planning used to achieve medialization of the orbits and describe the authors' experience using MFBDO to destigmatize the syndromic face. By using MFBDO, hypertelorism, vertical orbital dystopia, and downslanting of the palpebral fissure were surgically corrected in all patients, thereby destigmatizing the syndromic face.

There are paucity of studies focused on the long-term assessment of the craniofacial changes after a pi-plasty procedure and self-reported quality of life outcomes. Thus, this study aimed to assess long-term morphologic changes and quality of life of patients with sagittal synostosis who underwent surgery with a modified pi-plasty.Consecutive patients with sagittal synostosis who underwent surgery and had more than 5 years of follow-up and standard preoperative and 1, 3, and 5 years right profile view photographs were included. Nasofrontal angle and angle of total facial convexity were evaluated using computerized photogrammetric measurements. Additionally, quality of life outcome was evaluated by the Quality of Life Scale Short Form.The total facial convexity angle and nasofrontal angle increased significantly (P 0.05), with a P-value of 0.013 and 0.012, respectively. Patients had quality of life scores80 in all of the 4 domains, with the highest scores being: physical health domain 80.0 ± 0, psychologic domain 85.0 ± 5, social relationships domain 86.6 ± 0, and environmental domain 98.13 ± 2.42.Facial angles significantly changed over 5 years of follow-up. Self-reported quality of life instrument showed that patients are satisfied with their own appearance, contributing positively to their quality of life.

This study assessed whether optic radiations (OR) microstructure after temporal lobe epilepsy (TLE) surgery correlated with visual field defects (VFD). Patients were subjected to diffusion tensor imaging (DTI) tractography of the OR and Humphrey perimetry after TLE surgery. We used Spearman’s test to verify correlations between tractographic parameters and perimetry mean deviation. Tractographic variables were compared between patients with VFD or intact perimetry. Multiple logistic regression was applied between DTI and perimetry values. DTI sensitivity and specificity were assessed with a receiver operating characteristic (ROC) curve to evaluate VFD. Thirty-nine patients had reliable perimetry and OR tractography. There was a significant correlation between (1) fractional anisotropy (FA) and both total (rho = 0.569, p = 0.0002) and quadrant (rho = 0.453, p = 0.0037) mean deviation and (2) radial diffusivity and total mean deviation (rho = − 0.350, p = 0.0286). There was no other significant correlation. Patients with VFD showed a significantly lower FA compared with patients with normal perimetry (p = 0.0055), and a 0.01 reduction in FA was associated with a 44% increase in presenting VFD after surgery (confidence interval, CI = 1.10–1.88; p = 0.0082). Using a FA of 0.457, DTI tractography showed a specificity of 95.2% and a sensitivity of 50% to detect VFD after surgery (area under the curve = 0.7619, CI = 0.6020–0.9218). The postoperative OR microstructure correlated with visual loss after epilepsy surgery. DTI postoperative OR tractography may be helpful in evaluating VFD.

Simultaneously advancing and medializing the orbital segments in a stable bone bloc constitutes a major advancement in craniofacial surgery. Monobloc bipartition enables destigmatization of the syndromic face by correcting the abnormal orbital axis and interorbital distance. The authors stratified this complex surgical approach into five major steps to facilitate a holistic understanding of the surgical sequence. The rationale for latency and activation periods and the advantages and disadvantages of this technique are described.

Epilepsy is a common disease presenting with recurrent seizures. Hippocampal sclerosis (HS) is the commonest histopathological alteration in patients with temporal lobe epilepsy (TLE) undergoing surgery. HS physiopathogenesis is debatable. We have recently studied, by using mass spectrometry-based proteomics, an experimental model of TLE induced by electrical stimulation. Specifically, protein expressions of both the beta subunit of mitochondrial ATP synthase (ATP5B) and of membrane ATPases were found to be reduced. Here, we investigated tissue distribution of ATP5B and sodium/potassium-transporting ATPase subunit alpha-3 (NKAα3), a protein associated with neuromuscular excitability disorders, in human hippocampi resected "en bloc" for HS treatment (n = 15). We used immunohistochemistry and the stained area was digitally evaluated (increase in binary contrast of microscopic fields) in the hippocampal sectors (CA1-CA4) and dentate gyrus. All HS samples were classified as Type 1, according to the International League Against Epilepsy (ILAE) 2013 Classification (predominant cell loss in CA1 and CA4). ATP5B was significantly decreased in all sectors and dentate gyrus of HS patients compared with individuals submitted to necropsy and without history of neurological alterations (n = 10). NKAα3 expression showed no difference. Moreover, we identified a negative correlation between frequency of pre-operative seizures and number of neurons in CA1. In conclusion, our data showed similarity between changes in protein expression in a model of TLE and individuals with HS. ATP5B reduction would be at least in part due to neuronal loss. Future investigations on ATP5B activity could provide insights into the process of such cell loss.

Crouzon syndrome is a rare form of syndromic craniosynostosis (SC) characterized by premature fusion of the cranial and facial sutures, elevated intracranial pressure, varying degrees of ocular exposure due to exorbitism, and airway compromise caused by midface retrusion. Craniolacunae and upper and lower extremity anomalies are not frequently found in Crouzon syndrome. We present a girl with Crouzon syndrome caused by c.1040 C > G, p.Ser347Cys, a pathogenic mutation in the FGFR2 gene with atypical characteristics, including craniolacunae resembling severe Swiss cheese type of bone formation, and upper and lower extremity anomalies which are more commonly associated with Pfeiffer syndrome patients. Distinguishing between severe Crouzon syndrome patients and patients who have mild and/or moderate Pfeiffer syndrome can be challenging even for an experienced craniofacial surgeon. An accurate genotype diagnosis is essential to distinguishing between these syndromes, as it provides predictors for neurosurgical complications and facilitates appropriate family counseling related to long-term outcomes.

OBJECTIVE This study's objective was to compare the transinsular (TI-AH), transuncus (TU-AH), and temporopolar (TP-AH) amygdalohippocampectomy approaches regarding seizure control, temporal stem (TS) damage, and neurocognitive decline. METHODS We included 114 consecutive patients with unilateral hippocampal sclerosis (HS) who underwent TI-AH, TU-AH, or TP-AH between 2002 and 2017. We evaluated seizure control using Engel classification. We used diffusion tensor imaging and postoperative Humphrey perimetry to assess the damage of the TS. We also performed pre- and postoperative memory performance and intelligence quotient (IQ). RESULTS There were no significant differences in the proportion of patients free of disabling seizures (Engel IA+IB) among the three surgical approaches in the survival analysis. However, more patients were free of disabling seizures (Engel IA+IB) at 2 years of postsurgical follow-up with TP-AH (69.5%) and TI-AH (76.7%) as compared to the TU-AH (43.5%) approach (p = .03). The number of fibers of the inferior fronto-occipital fasciculus postoperatively was reduced in the TI-AH group compared with the TU-AH and TP-AH groups (p = .001). The rate of visual field defects was significantly higher with TI-AH (14/19, 74%) in comparison to the TU-AH (5/15, 33%) and TP-AH (13/40, 32.5%) approaches (p = .008). Finally, there was a significant postoperative decline in verbal memory in left-sided surgeries (p = .019) and delayed recall for both sides (p

BACKGROUND The purpose of this study is to review 10 years of surgical experience in the management of Apert syndrome, focusing on an updated algorithm which includes hand reconstruction and posterior vault distraction osteogenesis (PVDO). Additionally, the authors compare PVDO, which is currently used, with fronto-orbital advancement (FOA), which was utilized in a previous algorithm. METHODS An observational retrospective study was performed on consecutive patients with Apert syndrome who underwent upper and lower limb reconstruction and craniofacial surgery between 2007 and 2017. A modified Clavien-Dindo surgical complication scale was used to stratify complications between PVDO and FOA. Demographic, surgical, and outcome data was also recorded. The blood transfusion rate between PVDO and FOA was also assessed and compared utilizing the Student t test. RESULTS The present study included 69 patients with Apert syndrome (34 males and 35 females). Craniofacial surgeries were performed on a total of 38 patients. A total of 210 operations were performed on the respective upper and lower limbs of patients included in this study. A total of 18 patients underwent PVDO (n = 9) and FOA (n = 9). Posterior vault distraction osteogenesis required significantly less transfused blood volume than FOA (P

Visualizing a brain in its native space plays an essential role during neurosurgical planning because it allows the superficial cerebral veins and surrounding regions to be preserved. This paper describes the use of a visualization tool in which single gadolinium contrast-enhanced T1-weighted magnetic resonance imaging was applied in nondefective and nonresective skulls to promote visualization of important structures. A curvilinear reformatting tool was applied on the supratentorial compartment to peel the tissues to the depth of the dura mater and thereby revealing cortical and vascular spatial relationships. The major advantage of our proposed tool is that it does not require coregistration of anatomical and vascular volumes. The reliability of this technique was supported by comparisons between preoperative images and digital photographs of the brain cortical surface obtained after the dura mater was removed in 20 patients who underwent surgery in the Clinics Hospital of the University of Campinas from January 2017 to April 2018. Single fat-suppressed GAD contrast-enhanced T1-weighted magnetic resonance scans provide accurate preoperative 3D views of cortical and vascular relationships similar to neurosurgeons’ intraoperative views. In developing countries with limited access to state-of-the-art health technologies, this imaging approach may improve the safety of complex neurosurgeries.

Understand the variables that could interfere with diagnosis and prompt treatment in CNS childhood cancer in Brazil, a developing country with continental dimensions. From 2005 to 2010, we retrospectively evaluated factors, which could represent a negative influence on the time period elapsing from the onset of symptoms until the diagnosis of the central nervous system (CNS) neoplasia in children and adolescents attended in our service. Two hundred seventeen records were analyzed retrospectively. Factors of the households were evaluated, and this data was related to the time period elapsing from presentation of the first symptoms until the diagnosis of CNS neoplasia. The average time elapsed from the onset of the symptoms until seeking medical assistance was 96 days, and from medical assistance to patient referral to a reference service was 33 days. The symptoms which most contributed to a shorter delay in diagnosis were changes in gait and paresis, mother’s occupation, father’s education level, patient gender, and living in the state of Sao Paulo. Besides that, variables such as male gender, mother’s education level, and lower patient age were associated with an early diagnosis time. There is great difficulty in performing early diagnosis of CNS tumors, partly due to parent’s inability to recognize signs and symptoms, and in part due to an educational deficit among healthcare professionals. Identification of measures that can minimize these causes of delay is fundamental to increasing the chance of cure and survival of these patients.

Background Treacher Collins syndrome has a wide variation of clinical presentation, including airway obstruction and hearing loss. The objective of this study was to assess patient-rated quality of life in Treacher Collins syndrome, who received multidisciplinary treatment at a specialized craniofacial hospital, and to compare their quality of life with a control sample. Methods Treacher Collins patients under treatment in a multidisciplinary setting were assessed with the World Health Organization Quality of Life (WHOQOL-100) questionnaire. The Siviero scale was used to classify quality of life as unsatisfactory (scores below 25), intermediate (scores between 25 and 75), and satisfactory (scores above 75). Quality of life comparison between Treacher Collins patients and 2342 unaffected individuals from a previous database was performed using the analysis of variance test. Differences were considered significant at P Results Treacher Collins patients demonstrated an overall intermediate and satisfactory (score >60%) quality of life in almost all WHOQOL-100 facets and domains. The comparison of the scores between unaffected individuals and Treacher Collins patients demonstrated a significant difference (P Conclusion The highest functioning Treacher Collins syndrome patients under multidisciplinary treatment presented intermediate and satisfactory quality of life, consistent with quality of life scores of unaffected controls. In the environment domain, Treacher Collins patients presented even higher scores of quality of life than the control group. Clinical question/level of evidence Therapeutic, III.

Study design Retrospective cohort. Objective Evaluate the epidemiology of surgical patients with spinal metastases, identify the complications, and evaluate their neurological prognoses. Summary of background data The development of new oncological treatments and screening tests have increased the survival of oncologic patients, and consequently, the incidence of metastatic lesions of the spine. Methods Retrospective cohort of 40 patients surgically treated at the Hospital de Clinicas of UNICAMP for spinal metastases from January 2010 to September 2018, after diagnosis of symptomatic spinal cord compression and/or mechanical instability of the spine. Retrospectively analyzed patient charts applied the SINS score to evaluate the presence of mechanical instability. Neurological function was classified based on the Frankel index preoperative and postoperatively. To evaluate the association between variables, the Chi-square test, Fisher exact test, or Fisher-Freeman-Halton test was applied. For evaluating the improvement of neurological status between the Frankel scores before and after surgery, the McNemar test was applied for categorical and qualitative variables. In both the tests, variables with values of P > 0.05 were considered. Results Pain as the reason for the first visit presented an odds ratio (OR) = 2.44 (95% [CI]: 1.14-5.2) for instrumentation need (P = 0.024). A higher SINS score corresponded to the indication for instrumentation surgery due to the instability of the spine (P = 0.004). Within 30 days postoperative, five patients (11.1%) had complications. There was a statistically significant neurological improvement in patients who underwent surgery (P = 0.002). Conclusion Pain as the first symptom was related to mechanical instability of the spine and surgical instrumentation. Patients treated with surgery presented improvement of the neurological function in the postoperative period. Level of evidence 3.

OBJECTIVEMesial temporal lobe epilepsy (MTLE) is the most common type of focal epilepsy in adolescents and adults, and in 65% of cases, it is related to hippocampal sclerosis (HS). Selective surgical approaches to the treatment of MTLE have as their main goal resection of the amygdala and hippocampus with minimal damage to the neocortex, temporal stem, and optic radiations (ORs). The object of this study was to evaluate late postoperative imaging findings on the temporal lobe from a structural point of view.METHODSThe authors conducted a retrospective evaluation of all patients with refractory MTLE who had undergone transsylvian selective amygdalohippocampectomy (SAH) in the period from 2002 to 2015. A surgical group was compared to a control group (i.e., adults with refractory MTLE with an indication for surgical treatment of epilepsy but who did not undergo the surgical procedure). The inferior frontooccipital fasciculus (IFOF), uncinate fasciculus (UF), and ORs were evaluated on diffusion tensor imaging analysis. The temporal pole neocortex was evaluated using T2 relaxometry.RESULTSFor the IFOF and UF, there was a decrease in anisotropy, voxels, and fibers in the surgical group compared with those in the control group (p < 0.001). An increase in relaxometry time in the surgical group compared to that in the control group (p < 0.001) was documented, suggesting gliosis and neuronal loss in the temporal pole.CONCLUSIONSSAH techniques do not seem to totally preserve the temporal stem or even spare the neocortex of the temporal pole. Therefore, although the transsylvian approaches have been considered to be anatomically selective, there is evidence that the temporal pole neocortex suffers structural damage and potentially functional damage with these approaches.

Summary Introduction: Spinal tumors are rare in the pediatric population, presenting many specific peculiarities when compared to adults. We have performed a broad narrative review to describe the most common spinal tumors in children, discussing their main characteristics and management options. Method: The authors have performed an extensive review of the peer-reviewed literature addressing the aforementioned objectives. Results: Multimodality radiological studies (plain films, 3D computed tomography scan and magnetic resonance imaging) are necessary for proper evaluation and differential diagnosis of spinal tumors in children. In selected cases nuclear medicine imaging is used to improve the chances of a more accurate diagnosis. As a general rule, a fine needle biopsy is recommended after radiological evaluation to confirm the tumor's histology. Primary bone tumors can be divided into benign bone tumors, mostly represented by vertebral hemangiomas, osteoid osteomas, osteoblastomas, aneurismal bone cysts, and eosinophilic granulomas, and malign or aggressive tumors, such as Ewing's or osteogenic sarcomas. Secondary bone tumors (spinal metastases) comprise different tumor histologies, and treatment is mainly based on tumor's radiosensitivity. The characteristics and treatment options of the main spinal tumors are discussed in details. Conclusion: Spinal tumors in children are rare lesions that demand a thorough understanding of their main characteristics for their proper management. Understanding the nuances of spinal tumors in children is of paramount importance for improving outcomes and chances of cure. Resumo Introdução: Os tumores de coluna em crianças são raros, apresentando peculiaridades únicas quando comparados com os da população adulta. Método: Dada a escassez de trabalhos que avaliem o tema, realizou-se extensa revisão de literatura objetivando descrever os tumores de coluna que acometem a população pediátrica, discutindo características e opções de manejo. Resultados: A utilização de exames radiológicos combinados (radiografias, tomografia computadorizada com reconstrução em 3D e ressonância magnética) é necessária para avaliação adequada e diagnóstico diferencial dessas lesões. Em casos selecionados, exames de medicina nuclear aumentam as chances do diagnóstico preciso. Como regra geral, biópsia por agulha é recomendada para confirmação da histologia tumoral e tratamento subsequente. As lesões primárias de coluna podem ser benignas, representadas principalmente pelos hemangiomas, osteomas osteoides, osteoblastomas, cistos ósseos aneurismáticos e granulomas eosinofílicos, enquanto as lesões malignas são geralmente representadas por tumores agressivos, como o sarcoma de Ewing ou os sarcomas osteogênicos. Metástases de coluna podem ter diferentes etiologias, sendo o tratamento dependente principalmente da radiossensibilidade do tumor de origem. As opções de tratamento dessas lesões são descritas em detalhes. Conclusão: Tumores de coluna em crianças são raros e o seu manejo requer um conhecimento amplo e variado das diferentes possibilidades diagnósticas. Conhecer os nuances envolvidos no tratamento dessas lesões e os sintomas iniciais é fundamental para melhorar o prognóstico e as chances de cura.

Background Although craniofacial bone correction is the essential step in hypertelorbitism correction, the final result depends on the management of soft tissue deformities. The purpose of this study was to review our surgical strategies for soft tissue reconstruction in hypertelorbitism correction. Methods A retrospective study was performed of consecutive patients with hypertelorbitism, undergoing hypertelorbitism correction between 2007 and 2014. All aspects related to the craniofacial surgical procedures (number and type of procedures, outcomes, and complications) were verified through medical records, clinical photographs, and interviews with all patients. The surgical results were classified based on a previously published outcome grading scale I-IV on the need for additional surgery. Results The present study included 16 patients diagnosed with Crouzon syndrome (n = 2), Apert syndrome (n = 1), encephalocele (n = 1), frontonasal dysplasia (n = 2), craniofrontonasal dysplasia (n = 5), Tessier number 10 type (n = 1), and Tessier number 0 to 14 type (n = 4).The number and types (local flaps, medial canthopexy, Converse scalping flap, and/or the K stitch technique) of surgeries performed varied according to the facial soft tissue deformities of each patient. The overall rate of surgical results ranked according to the need for additional surgery was 1.56 ± 0.51 (between categories I and II). Conclusions As hypertelorbitism has been associated with a variety of congenital deformities, plastic surgeons who deal with these patients should have a broad surgical armamentarium tailored to each individual presentation.

OBJECTIVEMany repair techniques have been proposed to treat large myelomeningocele (MMC), and although effective in many cases, some of these techniques can be complex and time consuming, with complications such as cerebrospinal fluid (CSF) leakage, flap loss, tip necrosis, and wound dehiscence. The purpose of this study was to analyze cases of large skin defects and the methods applied and to report the outcomes of the keystone design perforator island flap (KDPIF) technique for large MMC closure.METHODSThe authors performed a retrospective review of all neonatal patients who had undergone KDPIF for MMC closure in the period from 2013 to 2018. All patients had a diagnosis of lumbosacral MMC based on obstetric ultrasound. The neurosurgeons and plastic surgeons had selected the cases after concluding that primary closure would be unlikely. The design of the flap is based on the randomly located vascular perforators, creating two identical opposing flaps to fashion a double keystone flap. During wound closure, V-Y advancement of each end of the double flap in the longitudinal axis creates redundancy in the central portion of the flap and reduces the horizontal tension. After discharge, both the neurosurgery and plastic surgery teams followed up all patients, tracking the results with photography.RESULTSNo skin flap dehiscence or necrosis, infection, or CSF leakage was detected, proving the reliability of the flap. One of the patients required further surgery for the large skin defects after insufficient intrauterine closure of the MMC and successfully underwent KDPIF treatment. Another patient (14.3%) had severe neonatal sepsis, which ultimately led to death. A ventriculoperitoneal shunt was required after the skin defect repair in 5 (83.3%) of the 6 surviving patients. Exceptional aesthetic results were achieved for all patients during the follow-up.CONCLUSIONSThe KDPIF technique is based on well-known vascular perforators of the intercostal, lumbar, and gluteal regions. Wound tension is widely distributed by the flap and, as a consequence, relevant tissue bulk, reliable vascularity, and important geometrical versatility are provided. In addition, most of the muscles and fascia are preserved, which is another advantage in terms of minimizing secondary morbidity to local tissue rearrangement. The use of KDPIF closure was successfully shown to be a viable alternative for more complex MMCs that present with large skin defects.

Fat grafting has been described as an option to repair frontotemporal contour deformities (volumetric deficiency of bone and/or soft tissues) after neurosurgical/craniofacial surgical interventions. However, technical surgical descriptions have varied, with reports describing the bolus fat injection or the classical multilayer injection, but with no detailed descriptions concerning how and where the fat should be grafted. The purpose of this study was to assess the frontotemporal symmetry outcomes after a single fat-grafting procedure for postoperative frontotemporal contour deformity reconstructions using the anatomical fat-grafting approach.A prospective analysis was conducted of consecutive patients (n = 106) who underwent anatomical fat grafting (Coleman's structural fat grafting technique using anatomical facial subunit and fat compartment principles) to reconstruct frontotemporal contour deformities after neurosurgical/craniofacial surgical interventions. A subjective assessment by a panel of external surgical professionals and laypersons was obtained to grade the frontotemporal symmetry. Objective ultrasound symmetry assessment was blindly performed preoperatively and at 3- and 12-month follow-up.There were significant (all P 0.05) postoperative subjective and objective frontotemporal symmetry enhancements (preoperativepostoperative) after anatomical fat grafting, with no differences (all P0.05) between the 3- and 12-month postoperative comparisons. Thirty-seven percent of patients required an additional fat grafting session for residual asymmetry after 12 months of follow-up.Patients with frontotemporal contour deformities presented improved subjective and objective frontotemporal symmetry after an anatomical fat grafting session.

The surgical management of craniofacial fibrous dysplasia is controversial. The purpose of this study was to report the surgical outcomes of individualized management of craniofacial fibrous dysplasia of a single institution.Data from patients (n = 20) with craniofacial fibrous dysplasia, who were surgically treated between 2007 and 2014, were analyzed. Surgical approach (radical or conservative surgery) was individualized according to age, craniofacial anatomical site (zones I to IV of Chen and Noordhoff), functional issues, aesthetic impairment, patients/parents' preferences, and surgical team experience. The surgical outcomes (radical surgery group versus conservative surgery group) were compared based on the age at the time of the procedure, the length of hospital stay, reoperation, recurrence and complication rates, and the Whitaker grading system.Significant (all P0.05) differences were observed in patients with craniofacial fibrous dysplasia who were treated with radical excision (65%) compared with those treated with limited reduction burring (35%), according to age (19.22 years versus 12.57 years), the length of hospital stay (3.56 days versus 1.29 days), recurrence (15% versus 71%), and number of subsequent procedures (1 intervention versus 2.4 interventions), respectively. The radical surgery group presented a significantly (P0.05) lower initial Whitaker outcome score than the conservative surgery group (1.89 and 2.57, respectively). Similar (all P0.05) final Whitaker outcome scores (1.56 versus 1.71) and surgical complication rates (11% versus 14%) were recorded between the treatment groups.Based on clinical experience and surgical outcomes presented in this study, the surgical approach of craniofacial fibrous dysplasia should be tailored to individual patient's needs.

Background context A posterior decompression with an instrumented fusion is one of the most common surgical procedures performed for treating symptomatic spinal stenosis associated with degenerative spondylolisthesis (DS). However, some patients may benefit from a decompression alone, avoiding complications related to instrumentation and fusion. Objective To identify the characteristics of patients with symptomatic DS who may be successfully treated with an isolated decompression. Study design A systematic literature review of studies including patients who underwent decompression without instrumentation for treatment of DS. Methods A systematic review of the Medline database was performed. Retrospective and prospective studies of patients with DS who underwent a decompression were included, as well as studies comparing decompression with instrumented decompression. All the articles were classified according to their level of evidence. Results Thirteen studies met all inclusion and exclusion criteria. We identified several characteristics that may be associated with a less favorable outcome after a decompression alone: a facet angle >50 degrees, a disk space of >6.5 mm, presence of low back pain rather than lower extremity symptoms, presence of hypermobility in the listhetic level on dynamic radiographs (>1.25 to 2 mm), and resection of the posterior elements. The majority of the studies comparing decompression alone to decompression and instrumented fusion included in our review suggested similar clinical outcomes with both procedures; however, with long-term follow-up, fusion may provide better outcomes. Decompression with a noninstrumented fusion is also a good alternative to improve symptoms in selected patients, potentially decreasing the risk of reoperation compared with an instrumented fusion. Conclusions Satisfactory clinical outcome can be achieved with an isolated decompression in selected patients, avoiding the additional risks and costs of instrumentation and spinal fusion. Noninstrumented fusion is also an interesting alternative to instrumented fusion for well-selected patients to decrease complications related to instrumentation.

SUMMARY OBJECTIVE: To present the surgical results of patients who underwent axis screw instrumentation, discussing surgical nuances and complications of the techniques used. METHODS: Retrospective case-series evaluation of patients who underwent spinal surgery with axis instrumentation using screws. RESULTS: Sixty-five patients were included in this study. The most common cause of mechanical instability was spinal cord trauma involving the axis (36 patients – 55.4%), followed by congenital craniocervical malformation (12 patients – 18.5%). Thirty-seven (57%) patients required concomitant C1 fusion. Bilateral axis fixation was performed in almost all cases. Twenty-three patients (35.4%) underwent bilateral laminar screws fixation; pars screws were used in twenty-two patients (33.8%), and pedicular screws were used isolated in only three patients (4.6%). In fourteen patients (21.5%), we performed a hybrid construction. There was no neurological worsening nor vertebral artery injury in this series. CONCLUSION: Axis screw instrumentation proved to be a safe and efficient method for cervical stabilization. Laminar and pars screws were the most commonly used RESUMO OBJETIVO: Apresentar os resultados cirúrgicos de pacientes submetidos à instrumentação com parafusos do áxis, discutindo nuances cirúrgicas e complicações das técnicas utilizadas. MÉTODOS: Série retrospectiva de pacientes submetidos à instrumentação do áxis utilizando parafusos. RESULTADOS: Sessenta e cinco pacientes foram incluídos neste estudo. A causa mais comum de instabilidade foi trauma raquimedular envolvendo o áxis (36 pacientes – 55,4%), seguida por malformação craniocervical congênita (12 pacientes – 18,5%). Trinta e sete (57%) pacientes necessitaram concomitante fusão de C1. Fixação bilateral foi realizada em quase todos os casos. Vinte e três pacientes (35,4%) foram submetidos à fixação com parafusos de lâmina; parafusos de pars foram utilizados em 22 pacientes (33,8%) e de pedículo, isoladamente, em três (4,6%). Em 14 casos (21,5%), realizamos técnicas combinadas. Não houve piora neurológica ou lesão de artéria vertebral nesta série de casos. CONCLUSÃO: A instrumentação com parafusos do áxis foi um método seguro e eficaz para estabilização cervical. A fixação da lâmina e a da pars foram as técnicas mais utilizadas.

Objective To compare surgical outcome in mesial temporal lobe epilepsy (MTLE) patients with unilateral hippocampal sclerosis (MTLE-HS) who had or did not have preoperative video-electroencephalographic monitoring (VEEG). Methods A prospective study was undertaken with 166 consecutive pharmacoresistant unilateral MTLE-HS patients. All patients were investigated with detailed seizure semiology, serial routine outpatient EEG, magnetic resonance imaging, neuropsychological evaluation, and if necessary, other examinations. Postoperative follow-up ranged between 2 and 16 years. Patients were divided into: (1) patients operated on based on routine outpatient EEG information, with >80% of EEGs with unilateral interictal epileptiform discharges (IEDs) ipsilateral to HS or ictal events (n = 71); and (2) patients submitted to preoperative VEEG (n = 95). To avoid the bias generated by ictal recordings, we performed a subanalysis of: (1) patients without preoperatively ictal recordings (n = 80) and (2) patients with ictal recordings in VEEG or routine outpatient EEG (n = 86). Results Groups were similar regarding gender, age at surgery, seizure onset, preoperative seizure frequency, and duration of follow-up. Overall, 136/166 (81.92%) were classified as Engel I seizure outcome, with no difference between groups; 76.84% and 88.73% of patients with and without VEEG, respectively, had Engel I postoperative seizure outcome (P = .77). The time lag until surgery was shorter in the group without VEEG (80 vs 38 months; P = .01). Considering ictal recordings, 76.74% of patients with seizures recorded and 87.50% without ictal recordings had Engel I outcome (P = .11). Significance We performed the first prospective study in a tertiary epilepsy center comparing surgical outcomes in unilateral MTLE-HS patients investigated preoperatively with and without VEEG. Based on the surgical outcome, VEEG is not imperative in patients with unilateral MTLE-HS who have compatible semiology and clearly ipsilateralized IEDs evaluated by a multidisciplinary and experienced epilepsy group.

Summary Chiari malformation (CM) is the most common and prevalent symptomatic congenital craniocervical malformation. Radiological diagnosis is established when the cerebellar tonsils are located 5 mm or more below the level of the foramen magnum on magnetic resonance imaging (MRI). Surgical treatment is indicated whenever there is symptomatic tonsillar herniation or syringomyelia/hydrocephalus. The main surgical treatment for CM without craniocervical instability (such as atlantoaxial luxation) is posterior fossa decompression, with or without duraplasty. The authors describe in details and in a stepwise fashion the surgical approach of patients with CM as performed at the State University of Campinas, emphasizing technical nuances for minimizing the risks of the procedure and potentially improving patient outcome. Resumo A malformação de Chiari (MC) é a malformação craniocervical congênita sintomática mais comum e prevalente. O diagnóstico radiológico é definido quando as tonsilas cerebelares estão localizadas pelo menos 5 mm abaixo do nível do forame magno na ressonância magnética (RM). Quando há hérnia tonsilar sintomática, siringomielia ou hidrocefalia, o tratamento cirúrgico é indicado. O principal tratamento cirúrgico para MC sem instabilidade craniocervical (como a luxação atlantoaxial) é a descompressão da fossa posterior com ou sem duroplastia. Os autores descrevem detalhadamente a abordagem cirúrgica de pacientes com MC realizada na Universidade Estadual de Campinas, enfatizando nuances técnicas para minimizar os riscos relacionados ao procedimento e melhorar os resultados pós-operatórios.

The purpose of this study was to quantify the changes in frontal morphology in patients with scaphocephaly treated with a modified Pi procedure. Consecutive scaphocephalic patients (n = 13) who underwent surgery before 12 months of age that had more than 1 year of follow-up and standard preoperative, 3-month, and 1-year photographs were included. Anthropometric measurements were used to document the craniofacial index. Computerized photogrammetric analyses of five craniofacial angles (bossing angle, nasofrontal angle, angle of facial convexity, and angle of total facial convexity) were also performed. Comparisons of the preoperative and postoperative direct anthropometric measurements of the cephalic index showed a significant (all p

Crouzon syndrome (CS) is an autosomal dominant disorder characterized by premature fusion of cranial sutures, midface and supraorbital ridge retrusion, exorbitism, and in some clinical scenarios strabismus, parrot-beaked nose, short upper lip and hypertelorbitism. Treatment of CS is overlapped with the beginning of craniofacial surgery and is grounded on morphologic and functional objectives. The authors reported on the outcomes and complications of family members (mother and 2 siblings) with CS, who were operated on by different techniques of frontofacial advancement and have attained skeletal maturity. Operations were performed in different moments throughout the last 3 decades of craniofacial surgery history. A 10-year-old Crouzon progenitor underwent a monobloc osteotomy with acute advancement, using rigid fixation and bone grafting in the osteotomy sites. An 8-year-old Crouzon daughter underwent gradual lengthening of a monobloc segment, using an external, institutionally made distracter device. In addition, a 10-year-old Crouzon son underwent gradual lengthening of a monobloc segment associated to facial bipartition, using an internal distracter device. After 30 years, the mother presented a mild relapse on the orbit level, but her children had satisfactory stable outcomes. The family members with CS have undergone different modifications of the monobloc approach based on different chronological momentum, from acute monobloc advancement, to monobloc distraction, to monobloc facial bipartition distraction.

To evaluate the safety and reliability of the new AO Classification, a recent classification system for Thoraco-Lumbar Spine Trauma (TLST).Retrospective study.We applied the new AO system in patients with TLST treated according to the TLICS. Two researchers classified injuries independently. Eight weeks later, the classification was repeated for intra and inter-observer agreement evaluation. To evaluate safety, we correlated the treatment performed based on the TLICS with the newer AO classification obtained.Fifty-four patients were included in this study, with a mean follow-up of 363.8 days. Twenty-three neurologically intact patients were initially treated conservatively. Their mean TLICS was 1.78 (1-4 points). Four patients underwent late surgery. Thirty-one patients were treated surgically. Their average TLICS was 7.22 points (4-10 points). Agreements in the four independent evaluations according to AO groups and subgroups were of 64.8% (35/54) and 55.5% (30/54) respectively. Kappa index for groups A, B and C was 0.75, 0.7 and 0.85 respectively. Kappa index for subgroups ranged from 0.16 to 0.85. Regarding safety, thirty (57.6%) patients with total subgroups agreement were analyzed. All patients with fracture in groups B and C underwent surgical treatment and patients in group A received surgery according to neurological status or failure of conservative treatment.The newer AO spine classification demonstrated good reliability at the level of groups. Subgroups demonstrated worse and varying reliability. Although the safety analysis was limited due to the low level of total concordance among all evaluations, patients from group A can be treated conservatively or surgically, whereas those from groups B and C are treated surgically.

Summary Objective To evaluate white matter (WM) integrity of distinct groups of patients with antiepileptic drug (AED)–resistant localization-related epilepsies. Methods We used diffusion tensor imaging (DTI) fiber-tractography and voxel-based morphometry (VBM) to investigate differences of WM micro- and macrostructural integrity in patients with different drug-resistant localization-related epilepsies: 17 with temporal lobe epilepsy with magnetic resonance imaging (MRI) signs of hippocampal sclerosis (TLE-HS), 17 with TLE and normal MRI (TLE-NL), 14 with frontal lobe epilepsy and subtle MRI signs of focal cortical dysplasia (FLE-FCD), and 112 healthy controls. We performed fiber-tractography using a semiautomatic deterministic method to yield average fractional anisotropy (FA), axial (AD), and radial (RD) diffusivity ipsilateral and contralateral to the epileptogenic zone of the following tracts based on their functional and anatomic relevance: body of fornix (BoF), body of cingulum (BoC), inferior frontal occipital (IFO), and uncinate fasciculi (UF). In addition, we performed VBM of the WM maps to assess macrostructural integrity differences among groups. Results TLE-HS had ipsilateral and contralateral decreased FA and increased RD for all tracts. VBM showed WM alterations mainly in the ipsilateral parahippocampal region and contralateral superior temporal gyrus. FLE-FCD showed bilateral FA decreases only in the BoC and ipsilateral RD increases also in the BoC. VBM showed WM reduction mainly in the ipsilateral precuneus and posterior and anterior cingulum. No significant WM alterations were found in the TLE-NL in DTI or VBM analysis. Significance WM abnormalities differ in distinct AED-resistant localization-related epilepsies. The diverse distribution of the WM damage in these patients suggests that the localization of the epileptic networks may play a role in the WM burden. However, the distinct degree of this damage, more accentuated in TLE-HS, also suggests that the underlying cause of the epilepsy is probably an additional factor to explain this WM damage.

Background Craniosynostosis is a complex disease once it involves deep anatomic perception, and a minor mistake during surgery can be fatal. The objective of this report is to present novel 3-dimensional–printed polyamide craniosynostosis models that can improve the understanding and treatment complex pathologies. Methods The software InVesalius was used for segmentation of the anatomy image (from 3 patients between 6 and 9 months old). Afterward, the file was transferred to a 3-dimensional printing system and, with the use of an infrared laser, slices of powder PA 2200 were consecutively added to build a polyamide model of cranial bone. Results The 3 craniosynostosis models allowed fronto-orbital advancement, Pi procedure, and posterior distraction in the operating room environment. All aspects of the craniofacial anatomy could be shown on the models, as well as the most common craniosynostosis pathologic variations (sphenoid wing elevation, shallow orbits, jugular foramen stenosis). Another advantage of our model is its low cost, about 100 U.S. dollars or even less when several models are produced. Conclusions Simulation is becoming an essential part of medical education for surgical training and for improving surgical safety with adequate planning. This new polyamide craniosynostosis model allowed the surgeons to have realistic tactile feedback on manipulating a child's bone and permitted execution of the main procedures for anatomic correction. It is a low-cost model. Therefore our model is an excellent option for training purposes and is potentially a new important tool to improve the quality of the management of patients with craniosynostosis.

to present our experience in the hypertelorbitism surgical treatment in craniofrontonasal dysplasia.retrospective analysis of craniofrontonasal dysplasia patients operated through orbital box osteotomy or facial bipartition between 1997 and 2015. Surgical data was obtained from medical records, complementary tests, photographs, and clinical interviews. Surgical results were classified based on the need for additional surgery and orbital relapse was calculated.seven female patients were included, of whom three (42.86%) underwent orbital box osteotomy and four (57.14%) underwent facial bipartition. There was orbital relapse in average of 3.71±3,73mm. Surgical result according to the need for further surgery was 2.43±0.53.surgical approach to hypertelorbitism in craniofrontonasal dysplasia should be individualized, respecting the age at surgery and preferences of patients, parents, and surgeons.apresentar nossa experiência no tratamento cirúrgico do hiperteleorbitismo na displasia craniofrontonasal.análise retrospectiva dos pacientes com displasia craniofrontonasal operados por orbital box osteotomy ou por bipartição facial entre os anos de 1997 e 2015. Informações sobre as intervenções cirúrgicas foram obtidas dos prontuários médicos, exames complementares, fotografias e entrevistas clínicas. Os resultados cirúrgicos foram classificados com base na necessidade de cirurgia adicional, e a recidiva orbital foi calculada.sete pacientes do sexo feminino foram incluídas, três submetidas à orbital box osteotomy (42,86%) e quatro (57,14%) à bipartição facial. Houve uma recidiva orbital média de 3,71±3,73mm. A média global dos resultados cirúrgicos de acordo com a necessidade de novas cirurgias foi de 2,43±0,53.a abordagem cirúrgica do hiperteleorbitismo na displasia craniofrontonasal deve ser individualizada, respeitando, sempre que possível, a idade e as preferências dos pacientes, seus familiares e cirurgiões.

OBJECTIVE: Evaluate the surgical results of axis screw instrumentation. METHODS: Retrospective evaluation of the clinical and radiological data of patients submitted to axis fixation using screws. RESULTS: Seventeen patients were surgically treated. The mean age was 41.8 years (range: 12-73). Spinal cord trauma was the most common cause of instability (8 patients - 47%). Bilateral axis fixation was performed in all cases, except one, with laminar screw (total of 33 axis screws). Seven patients (41.1%) underwent bilateral pars screws; laminar screws were used in six cases and pedicular screws were used in two. In two cases, we performed a hybrid construction (laminar + pars and pedicle + pars). There was no neurological worsening or death, nor complications directly related to use axis screws. CONCLUSION: Axis instrumentation was effective and safe, regardless of the technique used for stabilization. Based on our learnt experience, we proposed an algorithm to choose the best technique for axis screw fixation. OBJETIVO: Avaliar os resultados cirúrgicos da instrumentação com parafusos do áxis. MÉTODOS: Avaliação retrospectiva de dados clínicos e radiológicos de pacientes submetidos à instrumentação com parafusos do áxis. RESULTADOS: Dezessete pacientes foram tratados cirurgicamente. A média de idade foi de 41,8 anos (faixa: 12-73 anos). Trauma na coluna foi a causa mais comum de instabilidade (8 casos - 47%). Fixação bilateral do áxis foi realizada em todos os casos, exceto em um, com parafuso de lâmina (total de 33 parafusos). Em sete pacientes (41,1%), foram usados parafusos de pars; em seis, parafusos de lâmina; e em dois, de pedículos. Em dois casos, foi utilizada uma combinação de técnicas (pars + lâmina e pars + pedículo). Não houve piora neurológica nem complicações diretas em decorrência do uso dos parafusos. CONCLUSÃO: A instrumentação do áxis foi eficaz e segura independentemente da técnica escolhida para estabilização. Com base em nossa experiência, foi proposto um algoritmo para auxílio na escolha da melhor técnica a ser empregada.

Background Various reports have described the transuncus (TU) approach as a selective route to the amygdala and hippocampus, but this approach has not yet been submitted to solid postoperative imaging analysis. The objective of this study was to evaluate the anatomy, surgical technique, postoperative imaging analysis, and outcome in a series of patients with temporal lobe epilepsy who underwent selective amigdalohippocampectomy via a TU approach. Methods This was a prospective study of 25 consecutive patients who underwent selective amigdalohippocampectomy through a TU approach. The temporal stem and temporal pole were evaluated through different modalities of 3-Tesla magnetic resonance imaging, including tractography of optic radiation (OR), uncinate fascicle, and inferior fronto-occipital fascicle. Visual field analysis was performed with automated perimetry. Results The mean age was 40 ± 8.21 years, and mean follow-up was 26.44 + 12.58 months. Postoperatively, 21 patients (84%) were classified as Engel I (good seizure control). Diffusion tensor imaging (DTI) data showed that 78.2% of patients had some structural damage to the temporal stem and fibers of the uncinate fascicle were identified postoperatively in only 3 patients (13.04%). The inferior fronto-occipital fascicle was identified in 18 patients (78.3%); however, subsequent DTI analysis of the remaining fibers showed them to be damaged. Integrity of the OR did not differ between these 2 groups. Conclusions A TU approach is a feasible and efficient approach to selective amigdalohippocampectomy for surgical treatment of temporal lobe epilepsy. Postoperative DTI analysis suggests that a TU approach results in more injury to the temporal stem and its associated white matter fiber tracts than expected by previous anatomic studies; however, it was efficient in preserving OR.

Treacher Collins syndrome (TCS) is an autosomal dominant disorder with variable expression in which the ear may or may not be absent or with a malformation. Individuals with TCS suffer social stigma that may affect interaction with their peers. Quality of life instruments obtained through self-perception questionnaires are stigma identification tools and can enable social adjustment of these individuals. This study aims to assess the quality of life of individuals with TCS and to gauge the impacts of ear deformity on the quality of life. Twelve volunteers with a clinical and genetic diagnosis of TCS answered the WHO quality of life questionnaire and were divided into groups with normal ears (n = 6) versus affected ears (n = 6), and their results were compared. Siviero's scale was used to stratify the quality of life scores as satisfactory, intermediate and unsatisfactory. The overall score of the normal ears group was 73.13 and 71.81 for the affected ears group, and both were classified as an intermediate quality of life, with no statistically significant differences between them. Ear deformity is not a burden to the quality of life of these individuals, who already show other deformities and overall intermediate quality of life scores.A Síndrome de Treacher Collins (STC) é uma síndrome craniofacial de padrão autossômico dominante e expressão clínica variada, em que a orelha pode ou não estar ausente ou malformada. Indivíduos com STC sofrem estigmas podendo repercutir na interação com pares. Instrumentos de qualidade de vida obtidos por meio de questionários de autopercepção são ferramentas de identificação de estigmas e podem permitir o ajuste social desses indivíduos. Objetiva-se avaliar e mensurar a qualidade de vida em indivíduos com STC, aferindo os impactos da deformidade de orelhas na qualidade de vida. Doze voluntários com diagnóstico clínico e genético de STC responderam ao questionário de qualidade de vida da OMS, divididos em grupos com orelhas normais (n = 6) versus orelhas afetadas (n = 6) e seus resultados foram comparados. A escala de Siviero foi usada para estratificar a qualidade de vida em satisfatória, intermediária e insatisfatória. A pontuação geral do grupo com orelhas normais foi de 73,13; a do grupo com orelhas afetadas de 71,81, ambos classificados como níveis intermediários de qualidade de vida e sem diferença significativa entre si. A deformidade de orelha não representa um ônus na qualidade de vida dos indivíduos que já se apresentam com outras deformidades e com escores de qualidade de vida intermediários.

OBJECTIVE The authors evaluated a new classification for subaxial cervical spine trauma (SCST) recently proposed by the AOSpine group based on morphological criteria obtained using CT imaging. METHODS Patients with SCST treated at the authors’ institution according to the Subaxial Cervical Spine Injury Classification system were included. Five different blinded researchers classified patients’ injuries according to the new AOSpine system using CT imaging at 2 different times (4-week interval between each assessment). Reliability was assessed using the kappa index (κ), while validity was inferred by comparing the classification obtained with the treatment performed. RESULTS Fifty-one patients were included: 31 underwent surgical treatment, and 20 were managed nonsurgically. Intraobserver agreement for subgroups ranged from 0.61 to 0.93, and interobserver agreement was 0.51 (first assessment) and 0.6 (second assessment). Intraobserver agreement for groups ranged from 0.66 to 0.95, and interobserver agreement was 0.52 (first assessment) and 0.63 (second assessment). The kappa index in all evaluations was 0.67 for Type A, 0.08 for Type B, and 0.68 for Type C injuries, and for the facet modifier it was 0.33 (F1), 0.4 (F2), 0.56 (F3), and 0.75 (F4). Complete agreement for all components was attained in 25 cases (49%) (19 Type A and 6 Type C), and for subgroups it was attained in 22 cases (43.1%) (16 Type A0 and 6 Type C). Type A0 injuries were treated conservatively or surgically according to their neurological status and ligamentous status. Type C injuries were treated surgically in almost all cases, except one. CONCLUSIONS While the general reliability of the newer AOSpine system for SCST was acceptable for group classification, significant limitations were identified for subgroups. Type B injuries were rarely diagnosed, and only mild (Type A0) and extreme severe (Type C) injuries had a high rate of interobserver agreement. Facet modifiers and intermediate injury patterns require better descriptions to improve their low agreement in cases of SCST.

Meningiomas and nerve sheath tumors are the most common lesions found in the intradural extramedullary compartment of the spine. Some of these lesions can be located anteriorly to the spinal cord, constituting a challenge for spine surgeons. We present a surgical technique that improves the surgical exposure of lesions located anteriorly or antero-laterally to the spinal cord. A microsurgical technique of tenting of the dentate ligament with sutures and rotation of the spinal cord is described in detail and illustrated with surgical cases. This technique increases the small microsurgical operative field and allows spinal cord retraction with the use of a natural cord component, minimizing pressure on the spinal cord delicate tissue, allowing total tumor resection. In conclusion, total resection without new neurological deficit of anterior and antero-lateral tumors can be performed using an isolated posterior approach with rotation of the spinal cord using tenting of the dentate ligament with sutures.

The use of lateral mass atlas screws is an important technique to achieve fusion and stability at the craniocervical region affected by different pathologies (degenerative, traumatic, inflammatory, neoplastic, or congenital). This paper describes the anatomy and techniques necessary for proper insertion of posterior C1 lateral mass screws, using anatomic dissection and intraoperative pictures. Knowledge of the anatomy and the surgical technique of insertion of C1 lateral mass screws are of paramount importance to have good surgical results.

SUMMARY Introduction Degenerative cervical myelopathy (DCM) is the most common cause of spinal cord dysfunction in adult patients. Patients generally present with a slow, progressive neurological decline or a stepwise deterioration pattern. In this paper, we discuss the most important factors involved in the management of DCM, including a discussion about the surgical approaches. Method The authors performed an extensive review of the peer-reviewed literature addressing the aforementioned objectives. Results Although the diagnosis is clinical, magnetic resonance imaging (MRI) is the study of choice to confirm stenosis and also to exclude the differential diagnosis. The severity the clinical symptoms of DCM are evaluated by different scales, but the modified Japanese Orthopedic Association (mJOA) and the Nürick scale are probably the most commonly used. Spontaneous clinical improvement is rare and surgery is the main treatment form in an attempt to prevent further neurological deterioration and, potentially, to provide some improvement in symptoms and function. Anterior, posterior or combined cervical approaches are used to decompress the spinal cord, with adjunctive fusion being commonly performed. The choice of one approach over the other depends on patient characteristics (such as number of involved levels, site of compression, cervical alignment, previous surgeries, bone quality, presence of instability, among others) as well as surgeon preference and experience. Conclusion Spine surgeons must understand the advantages and disadvantages of all surgical techniques to choose the best procedure for their patients. Further comparative studies are necessary to establish the superiority of one approach over the other when multiple options are available. RESUMO Introdução a mielopatia cervical degenerativa (MCD) é uma das causas mais comuns de disfunção medular em adultos. Os pacientes em geral apresentam declínio neurológico lento e progressivo, ou deterioração escalonada. No presente artigo, discutimos os mais importantes fatores envolvidos no manejo da MCD, incluindo considerações sobre os aspectos relacionados à escolha da abordagem cirúrgica. Método realizou-se extensa revisão da literatura de artigos peer-reviewed relacionados ao tema. Resultados embora o diagnóstico seja realizado clinicamente, a ressonância magnética (RM) é o estudo de imagem de escolha para confirmá-lo e excluir eventuais diagnósticos diferenciais. A gravidade do quadro clínico pode ser avaliado utilizando-se diferentes escalas, como a modified Japanese Orthopedic Association (mJOA) ou a de Nürick, provavelmente as mais comuns. Uma vez que a melhora clínica espontânea é rara, a cirurgia é a principal forma de tratamento, em uma tentativa de evitar dano neurológico adicional ou deterioração e, potencialmente, aliviar alguns sintomas e melhorar a função dos pacientes. Abordagens cirúrgicas por via anterior, posterior ou combinada podem ser usadas para descomprimir o canal, concomitantemente a técnicas de fusão. A escolha da abordagem depende das características dos pacientes (número de segmentos envolvidos, local de compressão, alinhamento cervical, cirurgias prévias, qualidade óssea, presença de instabilidade, entre outras), além da preferência e experiência do cirurgião. Conclusão os cirurgiões de coluna devem compreender as vantagens e desvantagens de todas as técnicas cirúrgicas para escolher o melhor procedimento para seus pacientes. Estudos futuros comparando as abordagens são necessários para orientar o cirurgião quando múltiplas opções forem possíveis.