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    Rui Vaz

    Spontaneous spinal subdural hematomas are rare and may be caused by vascular malformations or bleeding disorders. The diagnosis is based on the conjunction of clinical examination with imaging studies, being MRI the gold standard in... more
    Spontaneous spinal subdural hematomas are rare and may be caused by vascular malformations or bleeding disorders. The diagnosis is based on the conjunction of clinical examination with imaging studies, being MRI the gold standard in detection and surgical planning. The authors report the case of a patient on anticoagulant therapy in the context of atrial fibrillation and mechanical prosthetic mitral and tricuspid valves, presenting with sudden onset of dorsal pain radiated to both lower limbs, paresthesias and progressive paraparesis. The impossibility to perform MRI (because the mechanical valve prostheses) hindered the diagnosis of acute spontaneous subdural hematoma. After reversal of the anticoagulation and surgical treatment, clinical course was favorable with neurological recovery.
    The purpose of this study was to determine the safety and efficacy in the first sixteen patients operated by endoscopic third ventriculostomy for triventricular obstructive hydrocephalus in the Hospital of S. João-Porto. Operated from... more
    The purpose of this study was to determine the safety and efficacy in the first sixteen patients operated by endoscopic third ventriculostomy for triventricular obstructive hydrocephalus in the Hospital of S. João-Porto. Operated from December 1998 to December 1999, there were one adult, one teenager and 14 children, with a average age of 18 months in the paediatric group. The three major causes for the changed CSF dynamics in this 16 patients were: three had aqueductal congenital stenosis; nine had aqueductal acquired obstruction (three with post-infectious occlusion, three with tumours, two with intraventricular cysts and one with a pineal arteriovenous malformation), and four with obstruction of the basal arachnoidal cisterns associated with myelomeningocele. The endoscopic third ventriculostomy (ETV) was concluded in 15 of the selected cases (it was not possible in a new-born with hydrocephalus after bacterial meningitis), and it was repeated in two patients. The success rate (c...
    Background Microsurgical clipping and endovascular coiling are viable treatment options for posterior communicating artery (PComA) aneurysms, but there are still major limitations to evidence-based decisions regarding standard-of-care... more
    Background Microsurgical clipping and endovascular coiling are viable treatment options for posterior communicating artery (PComA) aneurysms, but there are still major limitations to evidence-based decisions regarding standard-of-care treatment. In this study, we aimed at assessing potential selection biases that may influence our ability to extract conclusions about the comparative effectiveness or efficacy of the aneurysm treatment. Objective To study the patient/aneurysm characteristics as possible biases in the option for endovascular or neurosurgical treatment of PComA aneurysms. Methods A single-center, retrospective cohort study was performed, including all patients with treated PComA aneurysms with neurosurgical clipping or endovascular coiling between January 2010 and January 2021. Clinical and morphological data were collected from electronic records, and statistical analysis was performed. Results A total of 64 patients was eligible for inclusion; 24 (37.5%) patients were...
    PURPOSE Glioblastoma prognosis remains dismal despite gross total removal (GTR) followed by chemoradiotherapy. Other known prognostic factors include functional status, age and IDH mutation status. However, to improve patient outcome, a... more
    PURPOSE Glioblastoma prognosis remains dismal despite gross total removal (GTR) followed by chemoradiotherapy. Other known prognostic factors include functional status, age and IDH mutation status. However, to improve patient outcome, a search for other features with impact on survival is needed. We aimed to analyse the impact of body mass index (BMI) on overall survival (OS) and progression-free survival (PFS) of surgically resected primary glioblastoma and evaluate if BMI constitutes an independent prognostic factor. METHODS We analysed all adult glioblastoma patients who underwent surgery and chemoradiotherapy between 2011 and 2017 at our institution. Overall survival was the study-primary endpoint, and progression-free survival-the secondary endpoint. We assayed age, gender, histology, extent of resection, IDH, functional and smoking status, cardiovascular risk factors, BMI, OS and PFS. Univariate analysis was conducted followed by multivariate analysis to establish independent prognostic factors. In accordance with the World Health Organization (WHO) BMI stratification, survival curves were obtained for normal-weight (18.5-24.9 kg/m2), overweight (25-29.9 kg/m2) and obese (≥ 30 kg/m2) patient subgroups in addition to the non-obese (18.5-29.9 kg/m2) population. RESULTS 193 patients were evaluated, with a median follow-up time of 17.3 months. Median OS was 21.3 months in obese patients vs 16.2 months in the non-obese (p = 0.017) and 16 months in the normal weight (p = 0.007). Higher median OS was also observed in patients under 60 and those in which GTR was obtained. Median PFS in obese individuals was 9 months in comparison to 6 months in the normal-weight subgroup (p = 0.04) and 7 months in the non-obese (p = 0.050). Multivariate analysis identified age < 60 (p = 0.044), GTR (p = 0.004) and BMI ≥ 30 (p = 0.009) as independent prognostic factors for increased overall survival. CONCLUSION Higher BMI was associated with longer OS and PFS. Prospective studies are needed to validate these findings.
    Introduction: Resistant bacterial infections following brain and spine surgery and spontaneous mucormycosis with central nervous system (CNS) involvement represent a serious treatment challenge and more efficient therapeutic approaches... more
    Introduction: Resistant bacterial infections following brain and spine surgery and spontaneous mucormycosis with central nervous system (CNS) involvement represent a serious treatment challenge and more efficient therapeutic approaches ought to be considered. Hyperbaric oxygen treatment (HBOT) has shown promise as a complementary therapy. This case series evaluated whether HBOT contributed to infection resolution in seven patients with refractory CNS infectious conditions. Methods: Clinical results for seven patients referred for HBOT between 2010 to 2018 to treat refractory postoperative brain and spine infections or spontaneously developing mucormycosis were retrospectively analysed. The patients’ clinical files and follow-up consultations were reviewed to assess evolution and outcome. Results: Seven patients were referred with a median age of 56 years. The median follow-up was 20 months. Four patients had postoperative infections and three had rhino-orbital-cerebral mucormycosis ...
    It is known that excessive levels of occupational stress affect professionals' technical and non-technical skills and surgeons are no exception. However, very few studies address this problem in neurosurgeons. A system for monitoring... more
    It is known that excessive levels of occupational stress affect professionals' technical and non-technical skills and surgeons are no exception. However, very few studies address this problem in neurosurgeons. A system for monitoring cardiovascular strain and autonomic imbalance during intracranial aneurysm procedures is proposed in order to obtain overall cardiac measures from those procedures. Additionally, this study also allows to detect stressful events and compare their impact with the surgeon's own appraisal. Linear and nonlinear heart rate variability (HRV) features were extracted from surgeon's electrocardiogram (ECG) signal using wearable ECG monitors and mobile technology during 10 intracranial aneurysm surgeries with two surgeons. Stress appraisal and cognitive workload were assessed using self-report measures. Findings suggest that the surgeon associated to the main role during the clipping can be exposed to high levels of stress, especially if a rupture occurs (pNN20 = 0%), while the assistant surgeon tends to experience mental fatigue. Cognitive workload scores of one of the surgeons were negatively correlated with AVNN, SDNN, pNN20, pNN50, 1 V, 2 L V, SD2 and CVI measures. Cognitive workload was positively related with stress appraisal, suggesting that more mentally demanding procedures are also assessed as more stressful. Finally, pNN20 seems to better mirror behavior during stress moments than pNN50. Additionally, a sympathovagal excitation occurs in one of the professionals after changing to main role. The present methodology shows potential for the identification of harmful events. This work may be of importance for the design of effective interventions in order to reduce surgeons stress levels. Furthermore, this approach can be applied to other professions.
    Endoscopic third ventriculostomy (ETV) emerged as an effective alternative to shunting devices in patients with obstructive hydrocephalus. When ETV fails, neurosurgeons must choose between applying a shunting device or performing a repeat... more
    Endoscopic third ventriculostomy (ETV) emerged as an effective alternative to shunting devices in patients with obstructive hydrocephalus. When ETV fails, neurosurgeons must choose between applying a shunting device or performing a repeat ETV (re-ETV) and attempt a shunt independent outcome. In this series, clinical, surgical and follow-up data from six patients who underwent a second ETV were reviewed. Between January 2005 and June 2015, six patients underwent re-ETV, with four being children. Causes of obstructive hydrocephalus included idiopathic aqueduct stenosis, congenital aqueduct stenosis, neonatal intraventricular haemorrage, hypothalamic glioma and post-meningitis aqueductal stenosis. Success of the procedure was defined by clinical improvement and shunt independence. Overall success rate of this series was 83.3%, with re-ETV being effective in five of the six patients. The single case of re-ETV failure was observed in the pediatric population and was due to late stoma obstruction by tumoral growth, with a ventriculo-peritoneal shunt (VPS) being placed 6 months after re-ETV. In this series, no mortality and no major permanent morbidity were observed following re-ETV. Repeat ETV is a safe and effective procedure and should be an option for treatment of recurrent obstructive hydrocephalus if stoma closure or obstruction is present. Younger age and the presence of a previous VPS should not discourage this procedure.
    Parkinson&am... more
    Parkinson's Disease (PD) patients often need Deep Brain Stimulation (DBS) surgery when they become intolerant to drugs or these lose efficiency. A stimulation electrode is implanted in the basal ganglia to promote the functional control of the deregulated dopaminergic motor pathways. The stimulation target is defined by medical imaging, followed by electrophysiological inspection for fine electrode position trimming and electrical stimulation tuning. Intra-operative stimulation of the target and the evaluation of wrist rigidity allows to choose the stimulation parameters which best alleviate PD symptoms without side effects. Neurologists impose a passive wrist flexion movement and qualitatively describe the perceived decrease in rigidity under different voltages, based on its experience and with subjectivity. We designed a novel, comfortable and wireless wearable motion sensor to classify the wrist rigidity by deriving a robust signal descriptor from angular speed values and a polynomial mathematical model to classify signals using a quantitative continuous scale. The descriptor significantly (p<;0.05) distinguished between non-rigid and rigid states, and the classification model labelled correctly 83.9% of the evaluated signals against the blind-agreement of two specialists. Additionally, we developed a methodology to detect cogwheel rigidity from the angular speed signal with high sensitivity (0.93). Our system provides a reliable evaluation of wrist rigidity, improving upon the inherent subjective clinical evaluation while using small, simple and easy to use motion sensor.
    Background Minimally invasive transforaminal lumbar interbody fusion (MI-TLIF) has become an increasingly popular method for lumbar arthrodesis. While having similar long-term outcomes when compared with open TLIF, it decreases the amount... more
    Background Minimally invasive transforaminal lumbar interbody fusion (MI-TLIF) has become an increasingly popular method for lumbar arthrodesis. While having similar long-term outcomes when compared with open TLIF, it decreases the amount of intraoperative blood loss and iatrogenic muscle damage, the intensity of postoperative pain, and the duration of hospital stay. However, uncertainty remains about which factors contribute to outcomes in these patients. The purpose of this study was to retrospectively analyze a cohort of patients submitted to MI-TLIF and to identify factors that can be associated with a worse postoperative outcome. Methods Clinical records from 283 patients were assessed and, according to Odom's criteria, postoperative clinical outcome at 12 months was classified as excellent, good, fair, and poor. Demographic variables, clinical data, and surgery-related data were analyzed, looking for associations between them and clinical outcome. A binomial logistic regre...
    OBJECT Fifteen hundred patients have received deep brain stimulation (DBS) to treat neuropathic pain refractory to pharmacotherapy over the last half-century, but few during the last decade. Deep brain stimulation for neuropathic pain has... more
    OBJECT Fifteen hundred patients have received deep brain stimulation (DBS) to treat neuropathic pain refractory to pharmacotherapy over the last half-century, but few during the last decade. Deep brain stimulation for neuropathic pain has shown variable outcomes and gained consensus approval in Europe but not the US. This study prospectively evaluated the efficacy at 1 year of DBS for phantom limb pain after amputation, and deafferentation pain after brachial plexus avulsion (BPA), in a single-center case series. METHODS Patient-reported outcome measures were collated before and after surgery, using a visual analog scale (VAS) score, 36-Item Short-Form Health Survey (SF-36), Brief Pain Inventory (BPI), and University of Washington Neuropathic Pain Score (UWNPS). RESULTS Twelve patients were treated over 29 months, receiving contralateral, ventroposterolateral sensory thalamic DBS. Five patients were amputees and 7 had BPAs, all from traumas. A postoperative trial of externalized DBS...
    DBS surgery is considered for Parkinson’s Disease patients when motor complications and consequent quality of life is no longer acceptable on optimal medical therapy prescribed by neurologists. Within the operating room, the electrode... more
    DBS surgery is considered for Parkinson’s Disease patients when motor complications and consequent quality of life is no longer acceptable on optimal medical therapy prescribed by neurologists. Within the operating room, the electrode placement with the best clinical outcome for the patient is quantitatively assessed via the wrist rigidity assessment. A subjective scale is used, influenced by the neurologists’ perception and experience. Our research group has previously designed a novel, comfortable and wireless system aiming to tackle this subjectivity. This system comprised a gyroscope sensor in a textile band, placed in the patients’ hand, which communicated its measurement to a Smartphone via Bluetooth. During the wrist rigidity evaluation exam, a signal descriptor was computed from angular velocity (ω) and a polynomial mathematical model was used to classify the signals using a quantitative scale of rigidity improvement. In this present work, we aim to develop models that consi...
    Glioblastoma (GBM) is the most frequent malignant primary brain tumor in adults, characterized by a highly aggressive, inflammatory and angiogenic phenotype. It is a remarkably heterogeneous tumor at several levels, including... more
    Glioblastoma (GBM) is the most frequent malignant primary brain tumor in adults, characterized by a highly aggressive, inflammatory and angiogenic phenotype. It is a remarkably heterogeneous tumor at several levels, including histopathologically, radiographically and genetically. The 2016 update of the WHO Classification of Tumours of the Central Nervous System highlighted molecular parameters as paramount features for the diagnosis, namely IDH1/2 mutations that distinguish primary and secondary GBM. An ideal biomarker is a molecule that can be detected/quantified through simple non- or minimally invasive methods with the potential to assess cancer risk; promote early diagnosis; increase grading accuracy; and monitor disease evolution and treatment response, as well as fundamentally being restricted to one aspect. Blood-based biomarkers are particularly attractive due to their easy access and have been widely used for various cancer types. A number of serum biomarkers with multiple ...
    Meige Syndrome (MS) is a disabling movement disorder which impairs daily routines such as eating and speaking and, when not responsive to best medical treatment, deep brain stimulation (DBS) of the globus pallidus interna (GPi) has been... more
    Meige Syndrome (MS) is a disabling movement disorder which impairs daily routines such as eating and speaking and, when not responsive to best medical treatment, deep brain stimulation (DBS) of the globus pallidus interna (GPi) has been considered. Previous evidence has shown a significant improvement in motor dysfunction with DBS, however its benefit on disease-specific disability and quality of life has not been thoroughly studied. We describe two patients with severe MS submitted to GPi-DBS. Patient improvement was assessed preoperatively and 24 months after the surgery by applying the movement subscore of the Burke-Fahn-Marsden Dystonia Rating Scale (BFMRS) and Jankovic Rating Scale (JRS) for motor function and the BFMRS disability subscore and Blepharospasm Disability Scale (BDS) for disability. At 24-month follow-up, dystonia improved 68% in Patient 1 and 96% in Patient 2, while disability improved 77%-92% respectively. No major adverse effects were observed. Improvement in mo...
    Minimally Invasive Transforaminal Lumbar Interbody Fusion (MIS-TLIF) has become a popular method of interbody fusion. Clinical outcomes after MIS-TLIF have been reported but few studies have focused on the radiological changes in the... more
    Minimally Invasive Transforaminal Lumbar Interbody Fusion (MIS-TLIF) has become a popular method of interbody fusion. Clinical outcomes after MIS-TLIF have been reported but few studies have focused on the radiological changes in the segmental parameters of the operated and adjacent segments and in lumbar lordosis, for single level MIS-TLIF. From March 2009 to September 2016, 117 patients who underwent a single-level MIS-TLIF surgery for lumbar degenerative disease were enrolled in this retrospective study. Anterior disc height (ADH), posterior disc height (PDH) and segmental angle (SA) of the operated and adjacent levels and lumbar lordosis (LL) were evaluated on X-rays obtained preoperatively and postoperatively at 6-12 months follow-up visits. Cage related parameters including fusion and subsidence rates were analyzed on postoperative CT scans. Clinical assessment used validated outcome scores such as Oswestry Disability Index (ODI) questionnaire and Odom's criteria. ADH and ...
    Patients' recall of their preoperative status is seldom used to assess surgical outcomes because of concerns about inaccuracy and bias. The present study aimed to measure the significance of this recall bias and its repercussion on... more
    Patients' recall of their preoperative status is seldom used to assess surgical outcomes because of concerns about inaccuracy and bias. The present study aimed to measure the significance of this recall bias and its repercussion on patients' recollection of their preoperative status. Patients submitted to surgery due to degenerative spine diseases over a 1-year period (n = 198) were included in this study. Each patient completed the EuroQol Five-Dimensional Questionnaire (including a visual analog scale), Core Outcome Measures Index (COMI) for neck (including neck pain and shoulder/arm pain numeric rating scale [NRS]), COMI back (including back pain and buttock/leg pain NRS), Neck Disability Index, and Oswestry Disability Index preoperatively. At 1 year after surgery, the patients were asked to complete 2 sets of the same questionnaires, one set regarding their postoperative status and the other set regarding their recall of their preoperative status. There was poor to moder...
    Neutrophil-lymphocyte ratio (NLR) is a hematological marker of systemic inflammation and several studies demonstrate an association between a higher NLR and a worse prognosis in many malignancies. However, literature analyzing its... more
    Neutrophil-lymphocyte ratio (NLR) is a hematological marker of systemic inflammation and several studies demonstrate an association between a higher NLR and a worse prognosis in many malignancies. However, literature analyzing its prognostic value in glioblastoma multiforme (GBM) is still scarce. We intended to analyze the correlation of NLR with overall survival and progression-free survival in patients with GBM performing a retrospective review of the patients with diagnosis of GBM submitted to a resection surgery in the department of neurosurgery of a tertiary care hospital, between January/2005 and January/2013. 140 patients were included. Mean age at surgery was 62.9 ± 10.0 years and mean age at death was 64.4 ± 9.8 years. Mean overall survival was 19.4 ± 14.3 months and mean progression-free survival was 9.4 ± 8.7 months. There was no correlation of NLR, platelets-lymphocyte ratio (PLR) or absolute counts of neutrophils, lymphocytes and platelets with overall survival in multi...
    Chronic neuropathic pain is estimated to affect 3-4.5% of the worldwide population, posing a serious burden to society. Deep Brain Stimulation (DBS) is already established for movement disorders and also used to treat some... more
    Chronic neuropathic pain is estimated to affect 3-4.5% of the worldwide population, posing a serious burden to society. Deep Brain Stimulation (DBS) is already established for movement disorders and also used to treat some "off-label" conditions. However, DBS for the treatment of chronic, drug refractory, neuropathic pain, has shown variable outcomes with few studies performed in the last decade. Thus, this procedure has consensus approval in parts of Europe but not the USA. This study prospectively evaluated the efficacy at three years of DBS for neuropathic pain. Sixteen consecutive patients received 36 months post-surgical follow-up in a single-center. Six had phantom limb pain after amputation and ten deafferentation pain after brachial plexus injury, all due to traumas. To evaluate the efficacy of DBS, patient-reported outcome measures were collated before and after surgery, using a visual analog scale (VAS) score, University of Washington Neuropathic Pain Score (UWNPS), Brief Pain Inventory (BPI), and 36-Item Short-Form Health Survey (SF-36). Contralateral, ventroposterolateral sensory thalamic DBS was performed in sixteen patients with chronic neuropathic pain over 29 months. A postoperative trial of externalized DBS failed in one patient with brachial plexus injury. Fifteen patients proceeded to implantation but one patient with phantom limb pain after amputation was lost for follow-up after 12 months. No surgical complications or stimulation side effects were noted. After 36 months, mean pain relief was sustained, and the median (and interquartile range) of the improvement of VAS score was 52.8% (45.4%) (p = 0.00021), UWNPS was 30.7% (49.2%) (p = 0.0590), BPI was 55.0% (32.0%) (p = 0.00737), and SF-36 was 16.3% (30.3%) (p = 0.4754). DBS demonstrated efficacy at three years for chronic neuropathic pain after traumatic amputation and brachial plexus injury, with benefits sustained across all pain outcomes measures and slightly greater improvement in phantom limb pain.
    Human intervertebral disc (hIVD) cells were isolated from 41 surgically excised samples and assessed for their phenotypic alterations with age. Towards the design of novel anti-ageing strategies to overcome degenerative disc disease... more
    Human intervertebral disc (hIVD) cells were isolated from 41 surgically excised samples and assessed for their phenotypic alterations with age. Towards the design of novel anti-ageing strategies to overcome degenerative disc disease (DDD), we investigated age-correlated phenotypic alterations that occur on primary hIVD cells. Although regenerative medicine holds great hope, much is still to be unveiled on IVD cell biology and its intrinsic signalling pathways, which can lead the way to successful therapies for IDD. A greater focus on age-related phenotypic changes at the cell level would contribute to establish more effective anti-ageing/degeneration targets. The study was subdivided in four main steps: i) optimization of primary cells isolation technique; ii) high-throughput cell morphology analysis, by imaging flow-cytometry (FC) and subsequent validation by histological analysis; iii) analysis of progenitor cell surface markers expression, by conventional FC; and iv) statistical ...
    OBJETIVOS: No tratamento da recidiva de hérnia discal lombar, em particular no âmbito cirúrgico, vários aspectos se mantêm controversos. O presente trabalho pretende contribuir para definir características pré-operatórias que influenciem... more
    OBJETIVOS: No tratamento da recidiva de hérnia discal lombar, em particular no âmbito cirúrgico, vários aspectos se mantêm controversos. O presente trabalho pretende contribuir para definir características pré-operatórias que influenciem os resultados subjetivo e objetivo da cirurgia. MÉTODOS: Foram selecionados doentes submetidos à intervenção cirúrgica por hérnia discal lombar recidivada em um período de dez anos; foram revistos os processos clínicos e reavaliados os pacientes, de forma subjetiva (grau de satisfação, Pain Visual Analogue Scale, Score de Stanford) e objetiva (Índice de Incapacidade de Oswestry, Questionário de Zurich). Foi realizada uma análise estatística desses dados. RESULTADOS: O número total foi de 55 doentes, com predomínio do sexo masculino. A taxa de complicações foi de 7,3%. Onze doentes (20%) necessitaram de terceira intervenção cirúrgica. A grande maioria (91,5%) dos doentes afirma-se satisfeita com o tratamento cirúrgico. Houve uma variação média favorá...
    Abnormal expression of the long non-coding RNA HOX transcript antisense intergenic RNA (HOTAIR) is oncogenic in several human cancers, including gliomas. The HOTAIR single nucleotide polymorphisms (SNPs) rs920778 (C > T) and rs12826786... more
    Abnormal expression of the long non-coding RNA HOX transcript antisense intergenic RNA (HOTAIR) is oncogenic in several human cancers, including gliomas. The HOTAIR single nucleotide polymorphisms (SNPs) rs920778 (C > T) and rs12826786 (C > T) present in the intronic enhancer and promoter regions of HOTAIR, respectively, are associated with expression, cancer susceptibility, and patient prognosis in some tumor types. However, the relevance of these HOTAIR SNPs has not been studied in glioma. Here, we report a case-control study comprising 177 Portuguese glioma patients and 199 cancer-free controls. All subjects were genotyped by PCR and restriction fragment length polymorphism (RFLP). No statistically significant differences were found in the genotype or allele distributions of either rs920778 or rs12826786 between glioma patients and controls, suggesting these SNPs are not associated with glioma risk. No significant associations were found between rs920778 variants and HOTAIR...
    Many neurological diseases, such as... more
    Many neurological diseases, such as Parkinson's disease and epilepsy, can significantly impair the motor function of the patients, often leading to a dramatic loss of their quality of life. Human motion analysis is regarded as fundamental towards an early diagnosis and enhanced follow-up in this type of diseases. In this contribution, we present NeuroKinect, a novel system designed for motion analysis in neurological diseases. This system includes an RGB-D camera (Microsoft Kinect) and two integrated software applications, KiT (KinecTracker) and KiMA (Kinect Motion Analyzer). The applications enable the preview, acquisition, review and management of data provided by the sensor, which are then used for motion analysis of relevant events. NeuroKinect is a portable, low-cost and markerless solution that is suitable for use in the clinical environment. Furthermore, it is able to provide quantitative support to the clinical assessment of different neurological diseases with movement impairments, as demonstrated by its usage in two different clinical routine scenarios: gait analysis in Parkinson's disease and seizure semiology analysis in epilepsy.
    Primary central nervous system tumours represent the second most frequent neoplasm and are the leading cause of death from solid tumours in children. Our study aimed to provide the most up-to-date epidemiological analysis of primary... more
    Primary central nervous system tumours represent the second most frequent neoplasm and are the leading cause of death from solid tumours in children. Our study aimed to provide the most up-to-date epidemiological analysis of primary central nervous system tumours in children living in the north of Portugal and to explore a possible effect of the centralisation of care on outcomes. This population-based study included all newly diagnosed and histologically confirmed primary central nervous system tumours in people below 18 years old, living in the north of Portugal, from January 2008 to December 2013. Data were collected through access to clinical files. We described children and tumour characteristics, and analysed patient: paediatric neurosurgeon and histological tumour type: paediatric neurosurgeon ratios. A total of 147 cases was recorded. Mean age at diagnosis of primary central nervous system tumours was 8.0 ± 5.2 years. Astrocytomas were the most common histological type (34%)...
    Human hotspot TERT promoter (TERTp) mutations have been reported in a wide range of tumours. Several studies have shown that TERTp mutations are associated with clinico-pathological features; in some instances, TERTp mutations were... more
    Human hotspot TERT promoter (TERTp) mutations have been reported in a wide range of tumours. Several studies have shown that TERTp mutations are associated with clinico-pathological features; in some instances, TERTp mutations were considered as biomarkers of poor prognosis. The rs2853669 SNP, located in the TERT promoter region, was reported to modulate the increased TERT expression levels induced by the recurrent somatic mutations. In this study we aimed to determine the frequency and prognostic value of TERTp mutations and TERT rs2853669 SNP in 504 gliomas from Portuguese and Brazilian patients. TERTp mutations were detected in 47.8% of gliomas (216/452). Glioblastomas (GBM) exhibited the highest frequency of TERTp mutations (66.9%); in this glioma subtype, we found a significant association between TERTp mutations and poor prognosis, regardless of the population. Moreover, in a multivariate analysis, TERTp mutations were the only independent prognostic factor. Our data also show...
    Myoclonus-dystonia (MD) is a rare movement disorder which is disabling and frequently refractory to medical treatment. Deep brain stimulation (DBS) of the globus pallidus interna (GPi) has been used to treat some patients. Although there... more
    Myoclonus-dystonia (MD) is a rare movement disorder which is disabling and frequently refractory to medical treatment. Deep brain stimulation (DBS) of the globus pallidus interna (GPi) has been used to treat some patients. Although there is significant motor improvement with DBS, the impact on disability and on quality of life has been infrequently reported. Also, the benefit of the procedure is not established in patients without ε-sarcoglycan gene (SGCE) mutations. We present two patients with severe MD treated with GPi-DBS, one of the patients without a SGCE mutation. Motor improvements (rest/action/total subscores of the Unified Myoclonus Rating Scale and movement subscore of the Burke-Fahn-Marsden Dystonia Rating Scale [BFMRS]) and disability (BFMRS disability subscore) were carefully evaluated preoperatively and at 6 and 12months after surgery. Quality of life (addressed using the Portuguese version of the Medical Outcomes Study 36-item Short-Form General Health Survey, version 2.0 [SF-36v2]) was tested preoperatively and 12months after DBS. At 12-month follow-up, myoclonus improved 78.6% in Patient 1 and 80.7% in Patient 2, while dystonia improved 37% and 86.7%, respectively. Improvements in disability ranged from 71.4% to 75%. With regard to quality of life, all parameters addressed by the SF-36v2 improved or stabilized in both patients. No major adverse effects were noticed. Improvements in motor symptoms are consistent with reports in the literature and were obtained regardless of the identification of a SGCE gene mutation. There were also significant benefits on disability and quality of life. DBS should be considered for MD.
    Glioblastoma (GBM) is commonly diagnosed in patients older than 60 years, but the treatment protocols are mostly based on trials in patients aged up to 70 years. These lead to little consensus and to an absence of protocols regarding the... more
    Glioblastoma (GBM) is commonly diagnosed in patients older than 60 years, but the treatment protocols are mostly based on trials in patients aged up to 70 years. These lead to little consensus and to an absence of protocols regarding the standard treatments. The objective of this study is to analyze the prognostic factors, treatment efficacy, and adverse events in a cohort of elderly patients. A retrospective observational study of all patients aged ≥65 with histologically confirmed GBM followed at Centro Hospitalar S. João between 2005 and 2013. Demographic, clinical, radiographic, treatment, and outcome data were evaluated. Univariate and multivariate analyses were performed. A total of 126 patients were reviewed. Median progression-free survival was 5 months (95% confidence interval [CI], 4.138 to 5.862 months). Median overall survival (OS) was 8 months (95% CI, 5.950 to 10.050 months). Univariate analysis showed the statistically significant associations between the higher OS an...
    ABSTRACT
    This study reports a patient with a large teratoma involving the oropharynx, the nasopharynx and the left orbit, with intracranial extension. This case represents one of the first reported instances of such an association. A literature... more
    This study reports a patient with a large teratoma involving the oropharynx, the nasopharynx and the left orbit, with intracranial extension. This case represents one of the first reported instances of such an association. A literature review reporting head and neck teratomas with intracranial involvement is also presented. The authors describe a case of a neonate presenting with a huge teratoma causing respiratory distress due to upper airway obstruction. The child was operated on at 3 months of age with a combined neurosurgical and endonasal endoscopic-assisted approach. After more than 1-year follow-up, the child has no recurrence and no complications of surgery. This type of teratoma is very rare and surgical morbidity is common. The diagnosis may be apparent before birth, which will facilitate the planning of respiratory management. The combined neurosurgical and otolaryngologic approach for a neonatal teratoma has not previously been described. Using an endoscopic-assisted approach for intranasal tumors removal in neonates and infants is a very rare surgical challenge. Large nasopharyngeal teratomas of infancy with sinonasal and intracranial extension may be managed using a combined endoscopic-assisted endonasal and neurosurgical procedure.
    The role of laminectomy in the surgical treatment of cervical spondylotic myelopathy (CSM) is established even though postoperative cervical sagittal balance changes and a risk for long-term instability have been described. The aim of the... more
    The role of laminectomy in the surgical treatment of cervical spondylotic myelopathy (CSM) is established even though postoperative cervical sagittal balance changes and a risk for long-term instability have been described. The aim of the present study is to investigate its clinical efficacy and the radiological outcome in the long-term. The authors retrospectively reviewed consecutive cases of patients with CSM, who underwent cervical laminectomy between 1995 and 2010 at the Hospital São João (n = 106). Clinical files were consulted, and the patients reassessed in order to collect information on complaints, previous neurological deficits, surgery and its complications. Subjective and objective clinical evaluation (by three myelopathy scores) and imaging studies were undertaken in order to assess the long-term cervical sagittal curvature and presence of instability. After applying exclusion criteria, 57 patients were able to complete the follow-up. A favorable statistically signific...
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