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BACKGROUND: Near-peer medical education serves as an important method of delivering education to junior students by senior students. Due to the reduced clinical exposure because of the COVID-19 pandemic, we developed a mentorship scheme to help medical students with their Integrated Structured Clinical Examinations (ISCEs) by providing a combination of near-peer mentorship together with lecture-based teaching on a weekly basis for a 12-week period. Students attended a specialty-focused lecture every Tuesday followed by a small group teaching session organised by their tutor. METHODS: A longitudinal evaluative interventional study was undertaken by the international student led medical education organisation, OSCEazy. The teaching programme was organised and conducted by third year medical students to a recruited cohort of second year medical students. Students' perceptions of ISCEs (confidence, anxiety, and overall performance) were evaluated using 5-point Likert scales while their knowledge of the specialty was assessed using 10 single best answer questions which were distributed via Google® forms at the start and end of each week. In addition, we assessed tutor perceptions of their teaching and learning experience. RESULTS: Seventy-two tutees were enrolled in the programme (mean age: 24.4, female: 77.8%). 88.9% of the participants had not attended any online ISCE teaching prior to this. They preferred in-person ISCE teaching as compared to virtual sessions [median 4.5 (IQR 4-5) vs 3 (IQR 3-4), p < 0.0001), respectively]. There was a significant overall increase in knowledge when comparing pre-session and post-session performance [mean 53.7% vs 70.7%, p < 0.0001)]. There was a significant increase in student confidence [Confidence: median 3 (IQR:3-4) vs 4 (IQR 3-4), p < 0.0001] while no change was seen in the anxiety and perception of their overall performance in an ISCE. [Anxiety: median 3 (IQR 2-4) vs 3 (IQR 3-4), p = 0.37, Performance: median 3 (IQR 3-4) vs median 3 (IQR 3-4), p < 0.0001]. The tutors reported an increase in their confidence in teaching ISCEs online [median 3 (IQR 2-3.25) vs median 4 (IQR 4-5), p < 0.0001)]. CONCLUSION: Online near-peer teaching increases the confidence of both tutees and tutors involved while enhancing the tutees' knowledge of the specialty. Thus, medical schools should incorporate near-peer teaching in their curriculum to enhance the student learning experience.
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COVID-19 , Educação de Graduação em Medicina , Estudantes de Medicina , Humanos , Feminino , Adulto Jovem , Adulto , Pandemias , Educação de Graduação em Medicina/métodos , Aprendizagem , Currículo , Grupo Associado , EnsinoRESUMO
OBJECTIVE: Endovascular treatment (EVT) of spinal dural arteriovenous fistulae (SDAVF) has become increasingly popular given its less invasive nature. This study aims to assess radiological obliteration rates after surgery and EVT for SDAVF in a major tertiary referral centre serving a population of 2.2 million. METHOD: A retrospective review of all patients diagnosed with SDAVF between February 2010 and February 2018 was undertaken, identifying baseline demographics, treatment modality and the final radiological outcome (i.e., persistence of the SDAVF). Patients were identified from the departmental neurovascular database, clinical notes and imaging reports. RESULTS: Twenty patients were identified with an angiographically confirmed SDAVF. Two (10%) were managed conservatively. Nine patients (45%) underwent EVT. Obliteration was achieved in one patient (11%) after a single procedure, while one patient required two sessions. Further surgery was required in five patients (56%) to achieve complete obliteration. Nine patients (45%) underwent surgical disconnection as first treatment. Obliteration was radiologically confirmed in eight patients (89%). No radiological (MRI or angiographic) follow-up data was available for two patients (one from each group) and these were excluded from analysis. In this study, the obliteration rate of SDAVF after surgery was superior compared to EVT (p <0.01). CONCLUSION: Complete obliteration and recurrence rates after single treatment with EVT were inferior compared to surgical intervention. EVT may be better suited for specific presentations of SDAVF either in isolation or as an adjunct in multi-modality treatment. A national registry of outcomes may aid ongoing refinement of patient selection for EVT.
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Malformações Vasculares do Sistema Nervoso Central , Embolização Terapêutica , Humanos , Embolização Terapêutica/métodos , Coluna Vertebral/cirurgia , Malformações Vasculares do Sistema Nervoso Central/diagnóstico por imagem , Malformações Vasculares do Sistema Nervoso Central/cirurgia , Procedimentos Neurocirúrgicos/métodos , Estudos Retrospectivos , Reino Unido/epidemiologia , Resultado do TratamentoRESUMO
PURPOSE: Chronic subdural haematoma (CSDH) is a well-recognized consequence of head injury with a rising incidence worldwide. Whilst symptomatic CSDH warrants consideration of surgical intervention, the management of asymptomatic CSDH (AsCSDH) remains unclear. In this retrospective study, we investigate the natural history of AsCSDH, the requirement for radiological monitoring, and the role of neurosurgical input. METHODS: Head injury referrals to a tertiary neurosurgical unit over two years were screened to identify patients with AsCSDH. Clinical, radiological, and outcome parameters were collected for included patients. RESULTS: Of 2725 referrals, 106 (3.9%) patients were eligible for inclusion. The cohort consisted of predominantly male patients (70.8%) with an average age of 81.9 years and independent at baseline (79.3%). Radiological follow-up was recommended by neurosurgery in 4 patients (3.8%). Medical teams performed follow-up imaging for 57 patients (53.8%) culminating in a total of 116 follow-up scans, predominantly for falls or monitoring purposes. Antithrombotic agents were used by 61 patients (57.5%). Anticoagulants were held in 26/37 patients (70.3%) and antiplatelets in 12/29 patients (41.4%), ranging from 7 to 16 days when specified. Only one patient required neurosurgical intervention at 3 months from the time of initial presentation after the development of symptoms. CONCLUSIONS: Patients with AsCSDH do not require neuroradiological follow-up or neurosurgical intervention in the majority of instances. Medical professionals should explain to patients, families, and caregivers that the isolated finding of CSDH is not necessarily a cause for concern but safety netting advice regarding AsCSDH should be provided.
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In recent years, there has been a rise in the number of people who are able to speak two or more languages. This has been paralleled by an increase in research related to bilingualism. Despite this, much of the neuroanatomical consequences and pathological implications of bilingualism are still subject to discussion. This review aims to evaluate the neuroanatomical structures related to language and to the acquisition of a second language as well as exploring how learning a second language can alter one's susceptibility to and the progression of certain cerebral pathologies. A literature search was conducted on the Medline, Embase, and Web of Science databases. A total of 137 articles regarding the neuroanatomical or pathological implications of bilingualism were included for review. Following analysis of the included papers, this review finds that bilingualism induces significant gray and white matter cerebral changes, particularly in the frontal lobes, anterior cingulate cortex, left inferior parietal lobule and subcortical areas, and that native language and acquired language largely recruit the same neuroanatomical structures with however, subtle functional and anatomical differences dependent on proficiency and age of language acquisition. There is adequate evidence to suggest that bilingualism offsets the symptoms and diagnosis of dementia, and that it is protective against both pathological and age-related cognitive decline. While many of the neuroanatomical changes are known, more remains to be elucidated and the relationship between bilingualism and other neurological pathologies remains unclear.
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Multilinguismo , Giro do Cíngulo , Humanos , Idioma , Aprendizagem , NeuroanatomiaRESUMO
Traumatic brain injury (TBI) is a major cause of mortality and morbidity worldwide. There are currently no early biomarkers for prognosis in routine clinical use. Interleukin-6 (IL-6) is a potential biomarker in the context of the established role of neuroinflammation in TBI recovery. Therefore, a systematic review of the literature was performed to assess and summarise the evidence for IL-6 secretion representing a useful biomarker for clinical outcomes. A multi-database literature search between January 1946 and July 2021 was performed. Studies were included if they reported adult TBI patients with IL-6 concentration in serum, cerebrospinal fluid (CSF) and/or brain parenchyma analysed with respect to functional outcome and/or mortality. A synthesis without meta-analysis is reported. Fifteen studies were included, reporting 699 patients. Most patients were male (71.7%), and the pooled mean age was 40.8 years; 78.1% sustained severe TBI. Eleven studies reported IL-6 levels in serum, six in CSF and one in the parenchyma. Five studies on serum demonstrated higher IL-6 concentrations were associated with poorer outcomes, and five showed no signification association. In CSF studies, one found higher IL-6 levels were associated with poorer outcomes, one found them to predict better outcomes and three found no association. Greater parenchymal IL-6 was associated with better outcomes. Despite some inconsistency in findings, it appears that exaggerated IL-6 secretion predicts poor outcomes after TBI. Future efforts require standardisation of IL-6 measurement practices as well as assessment of the importance of IL-6 concentration dynamics with respect to clinical outcomes, ideally within large prospective studies. Prospero registration number: CRD42021271200.
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Lesões Encefálicas Traumáticas , Interleucina-6 , Adulto , Biomarcadores/sangue , Biomarcadores/líquido cefalorraquidiano , Lesões Encefálicas Traumáticas/diagnóstico , Feminino , Humanos , Interleucina-6/sangue , Interleucina-6/líquido cefalorraquidiano , Masculino , Prognóstico , Estudos ProspectivosRESUMO
OBJECTIVE: Benign spinal intradural tumors are rare entities and there have been relatively few case series describing the epidemiology and characteristics of these tumors. Here, we evaluate the presentation, demographics, pathology and outcomes associated with the surgical management of spinal meningioma in our unit over a 6-year period. RESULTS: A total of 68 cases presented to the operating surgeon during a 6-year period. Of these, over 80% (n = 55) were in females. Seventy-nine percent of the meningiomas were observed in the thoracic region (n = 54). Weakness and gait disturbance were the most common presenting complaints. Surgery significantly improved both motor outcome (p < 0.001) and health related qualities of life (SF36, p < 0.01).Seventeen percent of spinal meningioma cases (n = 12) had a preceding cancer diagnosis. Of these 75% (n = 9/12) were attributable to breast cancer. Overall, breast cancer preceded a diagnosis of a spinal meningioma in 16.4% of female cases (9/55). This is higher than expected number of breast cancer based on UK population and those reported in literature for breast cancer and intracranial meningioma. CONCLUSION: Spinal meningioma is disproportionately over-represented in females. Patients present with neurological deficits and surgery improved both neurology and patient reported quality of life. Relative to the known UK prevalence of breast cancer, there is a significantly higher than expected association between spinal meningioma and a preceding history of breast cancer.
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At a time of significant global unrest and uncertainty surrounding how the delivery of clinical training will unfold over the coming years, we offer a systematic review, meta-analysis, and bibliometric analysis of global studies showing the crucial role simulation will play in training. Our aim was to determine the types of simulators in use, their effectiveness in improving clinical skills, and whether we have reached a point of global acceptance. A PRISMA-guided global systematic review of the neurosurgical simulators available, a meta-analysis of their effectiveness, and an extended analysis of their progressive scholarly acceptance on studies meeting our inclusion criteria of simulation in neurosurgical education were performed. Improvement in procedural knowledge and technical skills was evaluated. Of the identified 7405 studies, 56 studies met the inclusion criteria, collectively reporting 50 simulator types ranging from cadaveric, low-fidelity, and part-task to virtual reality (VR) simulators. In all, 32 studies were included in the meta-analysis, including 7 randomised controlled trials. A random effects, ratio of means effects measure quantified statistically significant improvement in procedural knowledge by 50.2% (ES 0.502; CI 0.355; 0.649, p < 0.001), technical skill including accuracy by 32.5% (ES 0.325; CI - 0.482; - 0.167, p < 0.001), and speed by 25% (ES - 0.25, CI - 0.399; - 0.107, p < 0.001). The initial number of VR studies (n = 91) was approximately double the number of refining studies (n = 45) indicating it is yet to reach progressive scholarly acceptance. There is strong evidence for a beneficial impact of adopting simulation in the improvement of procedural knowledge and technical skill. We show a growing trend towards the adoption of neurosurgical simulators, although we have not fully gained progressive scholarly acceptance for VR-based simulation technologies in neurosurgical education.
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Neurocirurgia , Realidade Virtual , Competência Clínica , Simulação por Computador , Humanos , Neurocirurgia/educação , Procedimentos NeurocirúrgicosRESUMO
INTRODUCTION: Intracranial arachnoid cysts are a common incidental finding; however presentation with cyst rupture is a recognised complication. Patients are advised to avoid contact sports to reduce the risk of cyst rupture but the risk of rupture is not currently known. The aim of this study is to describe a single institution's experience of managing ruptured intra-cranial arachnoid cysts. METHOD: A retrospective case note review of all patients admitted to a single institution with a ruptured intra-cranial arachnoid cyst between 2005 and 2016 (inclusive). Medical records were reviewed for demographics, history of trauma, surgical treatment and radiological evidence of cyst rupture. RESULTS: Fourteen patients were identified for inclusion with an average age of 23.4 years (range 7-57) and 10 (71%) were male. Nine patients (64%) had a documented history of head trauma. Eleven patients (78.6%) required neurosurgical intervention which included hygroma/haematoma evacuation only (n = 5), haematoma evacuation with cyst fenestration (n = 4) and cyst fenestration/shunting only (n = 2). Twelve patients (85%) experienced full recovery and the remaining two had persisting headaches or neurological symptoms. DISCUSSION: Cyst rupture remains an uncommon cause for presentation with arachnoid cysts. However the majority are associated with head trauma and thus current advice to avoid contact sports seems justified.
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Cistos Aracnóideos , Adolescente , Adulto , Cistos Aracnóideos/complicações , Cistos Aracnóideos/diagnóstico por imagem , Cistos Aracnóideos/cirurgia , Criança , Humanos , Masculino , Pessoa de Meia-Idade , Procedimentos Neurocirúrgicos , Estudos Retrospectivos , Ruptura , Reino Unido , Adulto JovemRESUMO
OBJECTIVE: To evaluate current evidence for the effectiveness of virtual reality (VR) interventions in improving neurocognitive performance in individuals who have sustained a traumatic brain injury (TBI). METHODS: A systematic literature search across multiple databases (PubMed, EMBASE, Web of Science) for articles of relevance. Studies were evaluated according to study design, patient cohort, VR intervention, neurocognitive parameters assessed, and outcome. VR interventions were evaluated qualitatively with respect to methodology and extent of immersion and quantitatively with respect to intervention duration. OUTCOMES: Our search yielded 324 articles, of which only 13 studies including 132 patients with TBI met inclusion criteria. A wide range of VR interventions and cognitive outcome measures is reported. Cognitive measures included learning and memory, attention, executive function, community skills, problem solving, route learning, and attitudes about driving. Several studies (n = 10) reported statistically significant improvements in outcome, and 2 studies demonstrated successful translation to real-life performance. CONCLUSIONS: VR interventions hold significant potential for improving neurocognitive performance in patients with TBI. While there is some evidence for translation of gains to activities of daily living, further studies are required to confirm the validity of cognitive measures and reliable translation to real-life performance.
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Lesões Encefálicas Traumáticas/reabilitação , Transtornos Cognitivos/reabilitação , Terapia de Exposição à Realidade Virtual , Humanos , Testes NeuropsicológicosRESUMO
Purpose: Objective Structured Clinical Examination (OSCE) is a vital examination that must be passed to graduate as a qualified doctor. The delivery of OSCE teaching was changed to an online format to accommodate COVID-19 restrictions. Therefore, this study evaluates factors that students perceive to affect their virtual learning of clinical skills for OSCE. Methods: In this cross-sectional study, all medical students from across the world who attended "The Respiratory Station" session delivered by OSCEazy (a medical student organization providing free online medical education) in the academic year 2020-2021 received an online questionnaire about their perceptions of this learning opportunity. The survey was created on Google™ forms and consisted of 5-point Likert scales as well as free-text boxes. Results: A total of 556 responses were received (mean age: 24, female: 76.6%). Most students agreed that online OSCE teaching offers more flexibility and convenience (median: 5, IQR: 4-5) but their likeliness to ask questions in either format was similar (median: 4, IQR: 3-5 vs median: 4, IQR: 3-4, p value: 0.94). The use of visual aids (median: 5, IQR: 4-5) and breakout rooms (median: 3, IQR: 2-4) were thought to enhance the quality of virtual OSCE teaching. The biggest concern about online teaching was access to a stable internet connection (69.1%). Conclusion: The flexibility and convenience of virtual OSCE teaching enables the sharing of knowledge and skills to a wider audience and thus may be a very useful adjunct to face-to-face OSCE teaching in the future.
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Incidental soft tissue lumps in the scalp are a common presenting complaint in clinical practice. However, they may signify more sinister underlying pathologies. Our report examines a 63-year-old man presenting with impaired co-ordination in his left hand following a 3-month history of a painless left retroauricular scalp lump. MRI revealed a large left occipital soft tissue mass eroding through the underlying skull with infiltration into the underlying cerebellum and temporal lobe. Open biopsy confirmed a diagnosis of high-grade intracranial neuroendocrine tumour (NET). At approximately 5 months following successful tumour resection and adjuvant chemotherapy, he developed tumour recurrence and was subsequently palliated, and died at 1 year post diagnosis. Herein, we review other cases of primary intracranial NET, clinical findings, histopathological features and prognosis.
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Neoplasias Encefálicas , Tumores Neuroendócrinos , Neoplasias Encefálicas/diagnóstico , Neoplasias Encefálicas/diagnóstico por imagem , Humanos , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Recidiva Local de Neoplasia , Couro CabeludoRESUMO
OBJECTIVE: Traumatic brain injury (TBI) is a global public health problem, causing long-term burden to patients and caregivers. Patients and their families often resort to seeking online information regarding TBI management while awaiting formal health care consultations. Although this information is accessible and immediately available, little is known about the quality of online resources. We evaluated the accessibility, relevance, and readability of information regarding TBI from major online search engines. METHODS: TBI-related search terms were entered into 2 online search engines (Google and Yahoo), and the first 30 websites per search were assessed for eligibility. Quality (DISCERN score, JAMA Benchmark score) and readability (Flesch-Kincaid Grade Level, Flesch Reading Ease Score) were assessed. Associations between search ranking, quality, and readability were evaluated. RESULTS: In total, 202 websites were evaluated with mean DISCERN score 36.5 ± 9.9/80, signifying poor global quality, and mean JAMA Benchmark score 2.8 ± 1.1/4. The majority required 9-12 years of education (113/202; 55.9%) according to Flesch-Kincaid Grade Level and categorized as "Difficult" on Flesch Reading Ease Score (94/202; 46.5%). Website quality was not associated with search ranking or readability. CONCLUSIONS: There is a paucity of high-quality online resources for patients with TBI. Herein, we highlight: 1) the importance of guidance from healthcare professionals regarding online-information seeking; and 2) recommendations for the most useful online resources available.
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Lesões Encefálicas Traumáticas , Informação de Saúde ao Consumidor , Internet , Educação de Pacientes como Assunto/métodos , Cuidadores , Compreensão , HumanosRESUMO
OBJECTIVES: Acute subdural haematoma (ASDH) is a devastating pathology commonly found on CT brain scans of patients with traumatic brain injury. The role of surgical intervention in the elderly has been increasingly questioned due to its associated morbidity and mortality. Therefore, a systematic review and meta-analysis of the literature to quantify the mortality and functional outcomes associated with surgical management of ASDH in the elderly was performed. DESIGN/SETTING: A multidatabase literature search between January 1990 and May 2020, and meta-analysis of proportions was performed to quantify mortality and unfavourable outcome (Glasgow Outcome scale 1-3; death/ severe disability) rates. PARTICIPANTS: Studies reporting patients aged 60 years or older. INTERVENTIONS: Craniotomy, decompressive craniectomy, conservative management. OUTCOME MEASURES: Mortality and functional outcomes (discharge, long-term follow-up (LTFU)). RESULTS: 2572 articles were screened, yielding 21 studies for final inclusion and 15 for meta-analysis. Pooled estimates of mortality were 39.83% (95% CI 32.73% to 47.14%; 10 studies, 308/739 patients, I2=73%) at discharge and 49.30% (95% CI 42.01% to 56.61%; 10 studies, 277/555 patients, I2=63%) at LTFU. Mean duration of follow-up was 7.1 months (range 2-12 months). Pooled estimate of percentage of poor outcomes was 81.18% (95% CI 75.61% to 86.21%; 6 studies, 363/451 patients, I2=45%) at discharge, and 79.25% (95% CI 72.42% to 85.37%; 8 studies, 402/511 patients, I2=66%) at LTFU. Mean duration of follow-up was 6.4 months (range 2-12 months). Potential risk factors for poor outcome included age, baseline functional status, preoperative neurological status and imaging parameters. CONCLUSIONS: Outcomes following surgical evacuation of ASDH in patients aged 60 years and above are poor. This constitutes the best level of evidence in the current literature that surgical intervention for ASDH in the elderly carries significant risks, which must be weighed against benefits. PROSPERO REGISTRATION NUMBER: CRD42020189508.
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Lesões Encefálicas Traumáticas , Hematoma Subdural Agudo , Idoso , Lesões Encefálicas Traumáticas/cirurgia , Craniotomia , Escala de Resultado de Glasgow , Hematoma Subdural Agudo/diagnóstico por imagem , Hematoma Subdural Agudo/cirurgia , Humanos , Pessoa de Meia-Idade , Estudos Retrospectivos , Fatores de Risco , Resultado do TratamentoRESUMO
BACKGROUND: Intracranial arachnoid cysts (AC) are benign, cerebrospinal fluid filled spaces within the arachnoid layer of the meninges. Neurosurgical intervention in children and young adults has been extensively studied, but the optimal strategy in the elderly remains unclear. Therefore, we performed a single center retrospective study combined with a systematic review of the literature to compare cystoperitoneal (CP) shunting with other surgical approaches in the elderly cohort. METHODS: Retrospective neurosurgical database search between January 2005 and December 2018, and systematic review of the literature using PRISMA guidelines were performed. Inclusion criteria: Age 60 years or older, radiological diagnosis of intracranial AC, neurosurgical intervention, and neuroradiological (NOG score)/clinical outcome (COG score). Data from both sources were pooled and statistically analyzed. RESULTS: Our literature search yielded 12 studies (34 patients), which were pooled with our institutional data (13 patients). CP shunts (7 patients; 15%), cyst fenestration (28 patients; 60%) and cyst marsupialisation/resection (10 patients; 21%) were the commonest approaches. Average duration of follow-up was 23.6, 26.9, and 9.5 months for each approach, respectively. There was no statistically significant association between choice of surgical intervention and NOG score (P = 0.417), COG score (P = 0.601), or complication rate (P = 0.955). However, CP shunting had the lowest complication rate, with only one patient developing chronic subdural haematoma. CONCLUSION: CP shunting is a safe and effective surgical treatment strategy for ACs in the elderly. It has similar clinical and radiological outcomes but superior risk profile when compared with other approaches. We advocate CP shunting as first line neurosurgical intervention for the management of intracranial ACs in the elderly.
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BACKGROUND: Chronic subdural hemorrhage (CSDH) is a common neurosurgical pathology. While acute deterioration is managed surgically, the optimal management of patients with neurologically stable CSDH remains uncertain. Despite an increasing interest in the use of corticosteroids, it is unclear whether this reduces the rate of subsequent crossover to surgery. In this study we evaluate rate of crossover to surgery in such patients managed in our Neurosurgical unit. METHODS: A retrospective database search over a 2-year period was performed. A multi-database literature review was also conducted to identify relevant articles reporting rate of subsequent surgery in CSDH patients managed with corticosteroids. RESULTS: A total of 532 CSDH patients were identified. Subsequently, a total of 364 patients who were managed conservatively were included for further analysis. The majority (315 patients; 59.1%) were managed conservatively. Forty-nine patients (9.2%) received steroids as first-line treatment. There was considerable variation in steroid dosing regimens, with the commonest involving 4 mg dexamethasone three times daily for 5 days. Four patients in the steroid group required subsequent surgery (8.2%), compared with 22 conservatively managed patients (7.0%). Statistical analysis revealed no significant difference in the rate of surgery (chi-square 0.089, difference 1, P = 0.77). CONCLUSIONS: Current evidence implicates a potentially beneficial role of dexamethasone in the management of CSDH. However, it remains unclear whether the rate of crossover to surgery is reduced in patients treated with corticosteroids compared with those managed conservatively. A longer duration of study with detailed analysis of individual cases and appropriately randomized cohorts are necessary to draw more reliable conclusions.
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Tratamento Conservador , Dexametasona/uso terapêutico , Glucocorticoides/uso terapêutico , Hematoma Subdural Crônico/tratamento farmacológico , Procedimentos Neurocirúrgicos/estatística & dados numéricos , Adulto , Idoso , Idoso de 80 Anos ou mais , Estudos de Coortes , Feminino , Hematoma Subdural Crônico/diagnóstico por imagem , Hematoma Subdural Crônico/cirurgia , Humanos , Masculino , Pessoa de Meia-Idade , Estudos RetrospectivosRESUMO
Copy number variant (CNV) syndromes are often associated with both neurocognitive deficits (NCDs) and congenital heart defects (CHDs). Children and adults with cardiac developmental defects likely to have NCDs leading to increased risk of hospitalisation and reduced level of independence. To date, the association between these two phenotypes have not been explored in relation to CNV syndromes. In order to address this question, we systematically reviewed the prevalence of CHDs in a range of CNV syndromes associated with NCDs. A meta-analysis showed a relationship with the size of CNV and its association with both NCDs and CHDs, and also inheritance pattern. To our knowledge, this is the first review to establish association between NCD and CHDs in CNV patients, specifically in relation to the severity of NCD. Importantly, we also found specific types of CHDs were associated with severe neurocognitive deficits. Finally, we discuss the implications of these results for patients in the clinical setting which warrants further exploration of this association in order to lead an improvement in the quality of patient's life.
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Comorbidade , Variações do Número de Cópias de DNA/genética , Doenças Genéticas Inatas/genética , Cardiopatias Congênitas/genética , Transtornos Neurocognitivos/genética , Índice de Gravidade de Doença , Humanos , Transtornos Neurocognitivos/fisiopatologiaRESUMO
Despite medical advances, neurological recovery after severe traumatic brain injury (TBI) remains poor. Elevated levels of high mobility group box protein-1 (HMGB1) are associated with poor outcomes; likely via interaction with receptors for advanced-glycation-end-products (RAGE). We examined the hypothesis that HMGB1 post-TBI is anti-neurogenic and whether this is pharmacologically reversible. Post-natal rat cortical mixed neuro-glial cell cultures were subjected to needle-scratch injury and examined for HMGB1-activation/neuroinflammation. HMGB1-related genes/networks were examined using genome-wide RNA-seq studies in cortical perilesional tissue samples from adult mice. Post-natal rat cortical neural stem/progenitor cell cultures were generated to quantify effects of injury-condition medium (ICM) on neurogenesis with/without RAGE antagonist glycyrrhizin. Needle-injury upregulated TNF-α/NOS-2 mRNA-expressions at 6 h, increased proportions of activated microglia, and caused neuronal loss at 24 h. Transcriptome analysis revealed activation of HMGB1 pathway genes/canonical pathways in vivo at 24 h. A 50% increase in HMGB1 protein expression, and nuclear-to-cytoplasmic translocation of HMGB1 in neurons and microglia at 24 h post-injury was demonstrated in vitro. ICM reduced total numbers/proportions of neuronal cells, but reversed by 0.5 µM glycyrrhizin. HMGB1 is activated following in vivo post mechanical injury, and glycyrrhizin alleviates detrimental effects of ICM on cortical neurogenesis. Our findings highlight glycyrrhizin as a potential therapeutic agent post-TBI.
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Decompressive craniectomy (DC) is used for the treatment of raised intracranial pressure secondary to traumatic brain injury. Cranioplasty is a reconstructive procedure that restores the structural integrity of the skull following (DC). Seizures are a recognised complication of cranioplasty but its incidence and risk factors in TBI patients are unclear. Accurate prognostication can help direct prophylactic and treatment strategies for seizures. In this systematic review, we aim to evaluate current literature on these factors. A PROSPERO-registered systematic review was performed in accordance with PRISMA guidelines. Data was synthesised qualitatively and quantitatively in meta-analysis where appropriate. A total of 8 relevant studies were identified, reporting 919 cranioplasty patients. Random-effects meta-analysis reveals a pooled incidence of post-cranioplasty seizures (PCS) of 5.1% (95% CI 2.6-8.2%). Identified risk factors from a single study included increasing age (OR 6.1, p = 0.006), contusion at cranioplasty location (OR 4.8, p = 0.015), and use of monopolar diathermy at cranioplasty (OR 3.5, p = 0.04). There is an association between an extended DC-cranioplasty interval and PCS risk although it did not reach statistical significance (p = 0.062). Predictive factors for PCS are poorly investigated in the TBI population to date. Heterogeneity of included studies preclude meta-analysis of risk factors. Further studies are required to define the true incidence of PCS in TBI and its predictors, and trials are needed to inform management of these patients.
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Lesões Encefálicas Traumáticas/complicações , Craniectomia Descompressiva/efeitos adversos , Procedimentos de Cirurgia Plástica/efeitos adversos , Convulsões/etiologia , Lesões Encefálicas Traumáticas/terapia , Humanos , Complicações Pós-Operatórias/etiologia , Fatores de RiscoRESUMO
Traumatic brain injury (TBI) poses a major public health problem on a global scale. Its burden results from high mortality and significant morbidity in survivors. This stems, in part, from an ongoing inadequacy in diagnostic and prognostic indicators despite significant technological advances. Traumatic axonal injury (TAI) is a key driver of the ongoing pathological process following TBI, causing chronic neurological deficits and disability. The science underpinning biomarkers of TAI has been a subject of many reviews in recent literature. However, in this review we provide a comprehensive account of biomarkers from animal models to clinical studies, bridging the gap between experimental science and clinical medicine. We have discussed pathogenesis, temporal kinetics, relationships to neuro-imaging, and, most importantly, clinical applicability in order to provide a holistic perspective of how this could improve TBI diagnosis and predict clinical outcome in a real-life setting. We conclude that early and reliable identification of axonal injury post-TBI with the help of body fluid biomarkers could enhance current care of TBI patients by (i) increasing speed and accuracy of diagnosis, (ii) providing invaluable prognostic information, (iii) allow efficient allocation of rehabilitation services, and (iv) provide potential therapeutic targets. The optimal model for assessing TAI is likely to involve multiple components, including several blood biomarkers and neuro-imaging modalities, at different time points.