Diversity of thought: public perceptions of genetic testing across ethnic groups in the UK.

Genetic testing is becoming rapidly more accessible to the general populous either through or outside healthcare systems. Few large-scale studies have been carried out to gauge public opinion in this growing area. Here, we undertook the largest cross-sectional study on genetic testing in the UK. The primary purpose of this study is to identify the differences in attitudes toward genetic testing across ethnic groups. A cohort of 6500 individuals from a diverse population completed a 72-item survey in a cross-sectional study. Responses between ethnic minority and white individuals in the UK were compared using a wilcoxon rank-sum and chi-square tests. The white cohort was approximately twice as likely to have taken a genetic test and 13% more had heard about genetic testing before the survey. The ethnic minority cohort appeared more apprehensive about the impact of genetic testing on employability. This study highlights that in the UK, significant differences in opinions regarding genetic testing exist between white individuals and ethnic minority individuals. There is an urgent need to develop more inclusive strategies to equally inform individuals from all backgrounds to avoid disparities in the utilisation of genetic testing.

Cavernous sinus haemangioma masquerading as a pituitary macroadenoma: how the unexpected lurks in neurosurgery.

Cavernous sinus haemangiomas are neoplastic lesions notoriously difficult to diagnose and excise. We present a case of a lesion that was clinically, biochemically, and radiologically consistent to a giant pituitary macroadenoma and discuss the unexpected near intra-operative exsanguination which enabled a pathognomonic diagnosis of a much rarer lesion to be made. This highlights the sinister nature of such a lesion, and its potential impact on patient care if partially excised, and that despite our advances in neurosurgical diagnostics the unexpected is to be expected.

Demographics of Cauda Equina Syndrome: A Population-Based Incidence Study.

INTRODUCTION: Cauda equina syndrome (CES) has significant medical, social, and legal consequences. Understanding the number of people presenting with CES and their demographic features is essential for planning healthcare services to ensure timely and appropriate management. We aimed to establish the incidence of CES in a single country and stratify incidence by age, gender, and socioeconomic status. As no consensus clinical definition of CES exists, we compared incidence using different diagnostic criteria. METHODS: All patients presenting with radiological compression of the cauda equina due to degenerative disc disease and clinical CES requiring emergency surgical decompression during a 1-year period were identified at all centres performing emergency spinal surgery across Scotland. Initial patient identification occurred during the emergency hospital admission, and case ascertainment was checked using ICD-10 diagnostic coding. Clinical information was reviewed, and incidence rates for all demographic and clinical groups were calculated. RESULTS: We identified 149 patients with CES in 1 year from a total population of 5.4 million, giving a crude incidence of 2.7 (95% CI: 2.3-3.2) per 100,000 per year. CES occurred more commonly in females and in the 30-49 years age range, with an incidence per year of 7.2 (95% CI: 4.7-10.6) per 100,000 females age 30-39. There was no association between CES and socioeconomic status. CES requiring catheterization had an incidence of 1.1 (95% CI: 0.8-1.5) per 100,000 adults per year. The use of ICD-10 codes alone to identify cases gave much higher incidence rates, but was inaccurate, with 55% (117/211) of patients with a new ICD-10 code for CES found not to have CES on clinical notes review. CONCLUSION: CES occurred more commonly in females and in those between 30 and 49 years and had no association with socioeconomic status. The incidence of CES in Scotland is at least four times higher than previous European estimates of 0.3-0.6 per 100,000 population per year. Incidence varies with clinical diagnostic criteria. To enable comparison of rates of CES across populations, we recommend using standardized clinical and radiological criteria and standardization for population structure.

Association of extent of resection and functional outcomes in diffuse low-grade glioma: systematic review & meta-analysis.

BACKGROUND: Surgical resection offers survival benefits in patients with diffuse low-grade glioma (DLGG) but its association with functional outcomes is uncertain. This systematic review assessed functional outcomes associated with extent of resection (EoR) in adults with DLGG. METHODS: We searched Medline, Embase and CENTRAL on the 19th of February 2021 for observational studies reporting functional outcomes after surgical resection for patients aged ≥ 18 years with a new diagnosis of supratentorial DLGG according to any World Health Organization classification of primary brain tumors. The Newcastle-Ottawa Scale (NOS) informed our risk of bias assessments. The proportion of patients returning to work within 12 months entered a random-effects meta-analysis. PROSPERO registration number CRD42021238387. RESULTS: There were seven eligible moderate to high-quality (NOS > 6) observational studies identified from 1,183 records involving 234 patients with DLGG. Functional outcomes reported included neurocognition (n = 2 studies), performance status (n = 3), quality of life (QoL) (n = 1) and return to work (n = 6). The proportion of patients who returned to work within 12 months of surgery was 84% (95% confidence interval [CI] 50-96%, I-squared = 38%, 5 studies) for gross total resection, 66% (95% CI 14-96%, I2 = 57%, 5 studies) for subtotal resection, and 31% (95% CI 4-82%, I2 = 0%, 4 studies) for partial resection. There was insufficient data on other functional outcomes for quantitative synthesis. CONCLUSION: A higher proportion of DLGG patients returned to work following gross total resection compared with those who had a subtotal or partial resection. Further studies with standardized assessments can clarify the association between EoR and different functional outcomes.

First reported case of hydrocephalus in jointly diagnosed bacterial meningitis and a colloid cyst: how Ockham's razor became Hickam's dictum.

We report the first case in the literature of acute hydrocephalus due to a simultaneous diagnosis of bacterial (not asceptic) meningitis and a colloid cyst. Diagnosing disease is the cornerstone skill of a medical practitioner. Both education and experience allow for sharpening of this skill throughout years of medical practice. Disease is fraught with nuances and inconsistencies which can render an accurate diagnosis a difficult task. Medical practitioners can be guilty of cognitive biases such as Ockham's razor. We present the case of a patient with an initial diagnosis of obstructive hydrocephalus secondary to a colloid cyst. However, pneumococcal meningitis blunted Ockham's razor in favour of Hickam's dictum.

Usefulness of Royal College of Surgeons of England operation note guidelines to neurosurgical practice: a closed loop audit.

In the UK, doctors are instructed to keep accurate and clear medical records. This helps to ensure patient safety and is a professional expectation from the General Medical Council (GMC). However, operation note documentation is often reported to be sub-optimal despite general guidelines from the Royal College of Surgeons of England (RCSeng) existing. These guidelines have sub-domains, e.g. estimated blood loss, which can inform the understanding of an intra-operative complication to help guide post-operative management. We conducted a closed loop audit of operative notes against these guidelines to ascertain if neurosurgeons in our department thought them applicable to neurosurgical practice. The first cycle was conducted retrospectively and the second cycle prospectively each conducted over a four-week period. In between each cycle the results were presented to the department: firstly, as an oral presentation and secondly as posters displayed in relevant clinical areas. Furthermore, the knowledge of operative note guidelines and their perceived importance by registrars were ascertained through a questionnaire. This highlighted that RCSeng sub-domains missing from operation notes scored lowest in terms of importance, and one sub-domain that remained recorded less frequently in both cycles was estimated blood loss. This reflects closed loop audits in general, plastic and orthopaedic surgery. Clearly, a generic guideline cannot be completely applicable to neurosurgical practice. This then begs the question if such a guideline is useful at all. Or should guidelines be specialty specific, as is the case in orthopaedic surgery, to improve compliance to a guideline more reflective of neurosurgical practice.

Intravenous heparin during ruptured abdominal aortic aneurysmal repair.

BACKGROUND: There have been enormous advances in the screening, diagnosis, intervention and overall prognosis of abdominal aortic aneurysms (AAAs) in the last decade, but despite these, ruptured AAAs (rAAAs) still cause around 3500 to 6000 deaths in England and Wales each year. Open repair remains standard treatment for rAAA in most centres but increasingly endovascular aneurysm repair (EVAR) is being adopted. This has a 30-day postoperative mortality of 40%. This has remained static despite surgical, anaesthetic and critical care advances.One significant change to current practice for elective repairs of AAAs, as opposed to emergency repairs of rAAAs, has been the introduction of intravenous heparin. This provides a protective effect against cardiac and thrombotic disease in the postoperative period. This practice has not gained widespread acceptance for emergency repairs of rAAA even though a reduction in mortality and morbidity has been demonstrated in elective repairs. OBJECTIVES: The primary objective was to assess the effect of intravenous heparin on all-cause mortality in ruptured abdominal aortic aneurysm (rAAA) management in people undergoing an emergency repair.The secondary objectives were to assess the effect of intravenous heparin in rAAA management on the incidence of general arterial disease, for example, cardiovascular, cerebral, pulmonary and renal pathologies, in people undergoing emergency repair. SEARCH METHODS: The Cochrane Vascular Information Specialist (CIS) searched the Specialised Register (December 2015). In addition the CIS searched CENTRAL;2015, Issue 11). The CIS searched clinical trials registries for details of ongoing or unpublished studies. SELECTION CRITERIA: We sought all published and unpublished randomised controlled trials (RCTs) and controlled clinical trials (CCTs) of intravenous heparin in rAAA repairs (including parallel designs). DATA COLLECTION AND ANALYSIS: Two review authors independently assessed studies identified for potential inclusion in the review. We used standard methodological procedures in accordance with the Cochrane Handbook for Systematic Review of Interventions. MAIN RESULTS: We identified no RCTs or CCTs that satisfied the inclusion criteria. AUTHORS' CONCLUSIONS: We identified no RCTs or CCTs of intravenous heparin in rAAA repairs (including parallel designs). Therefore, we were unable to assess the effect of intravenous heparin on all-cause mortality and incidence of general arterial disease, for example, cardiovascular, cerebral, pulmonary and renal pathologies in rAAA management in people undergoing an emergency repair. It is clear that an RCT is needed to address this question in rAAA management as there is no high quality evidence.

Factor XI deficiency: incidental diagnosis post coronary artery bypass graft.

Severe Factor XI (FXI) deficiency is defined when the activated partial thromboplastin time is prolonged and its activation is <1-15 UdL(-1) in plasma. It is inherited as an autosomal recessive trait but can be acquired. In severe deficiency the bleeding diathesis is normally injury related. This particularly occurs during surgical procedures and trauma involving tissues rich in fibrinolytic activators. Cardiopulmonary bypass induces transient abnormalities in haemostasis which can cause a postoperative bleeding diathesis. Once treated, it does not appear to be a contraindication to cardiac procedures. Conversely, acquired deficiencies are more insidious being incidentally diagnosed during routine laboratory investigations and might be triggered by an inhibitory agent. We present a case of an uncomplicated 12-month delayed diagnosis of Factor XI deficiency following coronary artery bypass grafting and sternal rewiring. The potential risks if undiagnosed and the uncharacteristic clinical history of our case are discussed.

Extradural haemorrhage: is there a role for endovascular treatment?

The middle meningeal artery (MMA) is the most proximal and largest branch of the internal maxillary artery (IMA). It courses superiorly to the foramen spinosum making a sharp right angle bend entering the skull. The MMA has frontal, parietal and petrosal branches, the frontal branch being identified by its anterior convex curve along the greater wing of sphenoid. Trauma and a resultant extradural haematoma (EDH) demands urgent neurosurgical intervention to prevent imminent foramen magnum herniation and rapid demise. The seriousness of EDHs cannot be overstated and is a clear neurosurgical emergency requiring immediate definitive management. Historically craniotomy is the gold standard. But recent advances propose angiography and subsequent embolization as an alternative to craniotomy. We employed embolization to manage EDHs in two cases whose original clinical presentation did not demand urgent surgery. We discuss their subsequent management focusing on treatment choices and the potential role of endovascular techniques. We describe an alternative diagnostic protocol and embolic agents using Onyx and coils.

Presentation, management, and outcomes of cauda equina syndrome up to one year after surgery, using clinician and participant reporting: A multi-centre prospective cohort study.

Background: Cauda equina syndrome (CES) results from nerve root compression in the lumbosacral spine, usually due to a prolapsed intervertebral disc. Evidence for management of CES is limited by its infrequent occurrence and lack of standardised clinical definitions and outcome measures. Methods: This is a prospective multi-centre observational cohort study of adults with CES in the UK. We assessed presentation, investigation, management, and all Core Outcome Set domains up to one year post-operatively using clinician and participant reporting. Univariable and multivariable associations with the Oswestry Disability Index (ODI) and urinary outcomes were investigated. Findings: In 621 participants with CES, catheterisation for urinary retention was required pre-operatively in 31% (191/615). At discharge, only 13% (78/616) required a catheter. Median time to surgery from symptom onset was 3 days (IQR:1-8) with 32% (175/545) undergoing surgery within 48 h. Earlier surgery was associated with catheterisation (OR:2.2, 95%CI:1.5-3.3) but not with admission ODI or radiological compression. In multivariable analyses catheter requirement at discharge was associated with pre-operative catheterisation (OR:10.6, 95%CI:5.8-20.4) and one-year ODI was associated with presentation ODI (r = 0.3, 95%CI:0.2-0.4), but neither outcome was associated with time to surgery or radiological compression. Additional healthcare services were required by 65% (320/490) during one year follow up. Interpretation: Post-operative functional improvement occurred even in those presenting with urinary retention. There was no association between outcomes and time to surgery in this observational study. Significant healthcare needs remained post-operatively. Funding: DCN Endowment Fund funded study administration. Castor EDC provided database use. No other study funding was received.

Emergency surgical decompression and long-term survival of glioblastoma presenting in coma in old age: case report and review of prognostic factors.

We present a case demonstrating that older age does not exclude long-term survival with glioblastoma. This is a malignant neoplasm with a median life expectancy of 14 months in patients treated with radical intent. Survival is dependent on several independent and interacting prognostic factors of which advancing age is a negative factor. We present a septuagenarian with a 3.5-year survival following aggressive management. The potential to improve glioblastoma survival in an elderly population by examination of additional prognostic factors and identifying biomarkers warrants further research.

Fifteen-Year Institutional Retrospective Case Series of Decompressive Craniectomy for Malignant Middle Cerebral Artery Infarction.

OBJECTIVE: In the present study, we updated our previously reported case series of patients who had undergone decompressive craniectomy for malignant middle cerebral artery infarction (mMCAI) (2005-2020). To the best of our knowledge, the present case series constitutes the largest reported series from a UK neurosurgical unit of decompressive craniectomy for mMCAI. METHODS: We extracted data regarding the clinical discriminators, surgical timescales, and functional outcomes of patients. RESULTS: A total of 67 patients had undergone decompressive craniectomy. The 30-day mortality was 17.9% (n = 12). Of the 67 patients, 31 were male (46.3%) and 36 were female (53.7%). Their mean age was 45 years (range, 16-64 years). The mean age of the survivors was 43 years (range, 16-62 years) compared with 50 years (range, 38-64 years) for those who had died. The median ictal and preoperative Glasgow coma scale score was 14 (range, 7-15) and 8 (range, 3-15), respectively. The corresponding motor scores were 6 and 5. The mean interval from ictus to neurosurgical unit admission was 18.25 hours (range, 0.5-66 hours) and from admission to decompressive craniotomy was 7.30 hours (range, 0.5-46 hours). Of the 67 patients, 63% had undergone "early" craniectomy (<48 hours from mMCAI evolution), with 89% of these patients having undergone craniectomy <24 hours after neurosurgical unit admission. The mean maximum anteroposterior craniectomy diameter was 13.01 cm (range, 10.29-15.56 cm), and mean surface area was 94.38 cm2 (range, 74.75-132.32 cm2). Overall, 46% of patients had had a modified Rankin scale score of <3 (range, 0-6) from discharge to 12 months postoperatively. The median neurosurgical unit length of stay was 15 days (range, 6 hours to 365 days). CONCLUSIONS: The findings from the present update have confirmed that local practice has remained consistent with current evidence. However, patient selection might be optimized if diffusion-weighted magnetic resonance imaging and computed tomography perfusion were used at the original middle cerebral artery infarct admission.

Management evaluation of metastasis in the brain (MEMBRAIN)-a United Kingdom and Ireland prospective, multicenter observational study.

BACKGROUND: In recent years an increasing number of patients with cerebral metastasis (CM) have been referred to the neuro-oncology multidisciplinary team (NMDT). Our aim was to obtain a national picture of CM referrals to assess referral volume and quality and factors affecting NMDT decision making. METHODS: A prospective multicenter cohort study including all adult patients referred to NMDT with 1 or more CM was conducted. Data were collected in neurosurgical units from November 2017 to February 2018. Demographics, primary disease, KPS, imaging, and treatment recommendation were entered into an online database. RESULTS: A total of 1048 patients were analyzed from 24 neurosurgical units. Median age was 65 years (range, 21-93 years) with a median number of 3 referrals (range, 1-17 referrals) per NMDT. The most common primary malignancies were lung (36.5%, n = 383), breast (18.4%, n = 193), and melanoma (12.0%, n = 126). A total of 51.6% (n = 541) of the referrals were for a solitary metastasis and resulted in specialist intervention being offered in 67.5% (n = 365) of cases. A total of 38.2% (n = 186) of patients being referred with multiple CMs were offered specialist treatment. NMDT decision making was associated with number of CMs, age, KPS, primary disease status, and extent of extracranial disease (univariate logistic regression, P < .001) as well as sentinel location and tumor histology (P < .05). A delay in reaching an NMDT decision was identified in 18.6% (n = 195) of cases. CONCLUSIONS: This study demonstrates a changing landscape of metastasis management in the United Kingdom and Ireland, including a trend away from adjuvant whole-brain radiotherapy and specialist intervention being offered to a significant proportion of patients with multiple CMs. Poor quality or incomplete referrals cause delay in NMDT decision making.

Stereotactic radiosurgery for cerebral cavernous malformations: A systematic review.

OBJECTIVE: The efficacy of stereotactic radiosurgery (SRS) for the treatment of cerebral cavernous malformations (CCMs) is uncertain, so we set out to quantify clinical outcomes after SRS for CCM and compare them to microsurgical excision or conservative management. METHODS: We searched Ovid Medline and Ovid EMBASE from inception until June 1, 2018, for peer-reviewed publications describing clinical outcomes after SRS for ≥10 people with CCM in cohorts with or without a comparison group treated with neurosurgical excision or conservative management. Two reviewers independently extracted data from the included studies to quantify cohort characteristics and the incidence of the primary outcome (death attributable to CCM or its treatment) and secondary outcomes (incident nonfatal symptomatic intracerebral hemorrhage [ICH] and incident nonhemorrhagic persistent focal neurologic deficit [FND]). We assessed whether comparative studies showed a dramatic association (meaning the conventionally calculated probability comparing 2 differently managed patient groups from the same population was <0.01 with a rate ratio greater than 10). RESULTS: We included 30 cohort studies involving a total of 1,576 patients undergoing SRS for CCM. Four nonrandomized studies compared SRS to other treatment strategies, but did not demonstrate dramatic associations. During a median follow-up of 48 (interquartile range 35-62) months after SRS, the annual incidences (95% confidence interval) of outcomes were death 0.18% (0.10-0.31), ICH 2.40% (2.05-2.80), FND 0.71% (0.53-0.96), and the composite of death, ICH, or FND 3.63% (3.17-4.16). Outcomes did not differ by CCM location or type of SRS. CONCLUSION: After SRS for CCM, the annual incidences of death, ICH, and FND are <5% and seem comparable to outcomes without SRS. A randomized trial of SRS for CCM is needed.

Trans-Cranial Embolisation of a Complex Transverse Sigmoid Sinus Dural Arteriovenous Fistula by Direct Puncture of the Superior Sagittal Sinus.

This technical note describes a direct puncture of the superior sagittal sinus (SSS) to treat a complex dural arteriovenous fistula (dAVF). A 40-year-old female was admitted having a history of increasing confusion. Computer tomography revealed enlargement of the right superior ophthalmic vein and magnetic resonance imaging demonstrated extensive bilateral hemispheric venous engorgement. Digital subtraction angiography (DSA) demonstrated a high flow dAVF involving the right transverse sinus. There was extensive cortical venous rerouting with venous sinus occlusion at the right transverse and sigmoid junction. Under general anesthesia, the sinus was exposed and catheterized. The angiography catheter was fed over the guide wire into the sinus. The remaining right sigmoid and transverse sinus were obliterated using a combination of microcoils and Onyx®. She made a good postoperative recovery, and a repeat DSA at 30 days postoperatively showed evidence of the meningohypophyseal trunk but complete occlusion of the fistula. A check DSA 2 years later confirmed no evidence of a residual fistula. Our case demonstrates the potential use of the SSS as a novel conduit to treat distant targets.