bluuebunny/crossref_metadata_2025 huggingface dataset:
BET 2: Is sexual dysfunction a recognised sign of cauda equina syndrome in the ED?
Authors: Angus Michelle , Horner Daniel
Published: July 2019

A shortcut review of the literature was carried out to examine the association of sexual dysfunction in the context of new-onset low back pain, with cauda equina syndrome (CES). Five papers were identified as suitable for inclusion using the reported search strategy. The author, date and country of publication, patient group studied, study type, relevant outcomes, results and study weaknesses of the best papers are tabulated. It is concluded that clinicians appear to be poor at recording this feature during assessment, but between 12% and 96%, patients with confirmed CES will report the presence of new-onset sexual dysfunction at presentation when asked. It appears that this can also be a single isolated red flag feature in the context of low back pain and as such should be a mandatory part of any clinical assessment that seeks to evaluate the risk of impending CES.
Genome-wide mapping of 5-hydroxymethylcytosines in circulating cell-free DNA as a non-invasive approach for early detection of hepatocellular carcinoma
Authors: Cai Jiabin , Chen Lei , Zhang Zhou , Zhang Xinyu , Lu Xingyu , Liu Weiwei , Shi Guoming , Ge Yang , Gao Pingting , Yang Yuan , Ke Aiwu , Xiao Linlin , Dong Ruizhao , Zhu Yanjing , Yang Xuan , Wang Jiefei , Zhu Tongyu , Yang Deping , Huang Xiaowu , Sui Chengjun , Qiu Shuangjian , Shen Feng , Sun Huichuan , Zhou Weiping , Zhou Jian , Nie Ji , Zeng Chang , Stroup Emily Kunce , Zhang Xu , Chiu Brian C-H , Lau Wan Yee , He Chuan , Wang Hongyang , Zhang Wei , Fan Jia
Published: July 2019

Objective

The lack of highly sensitive and specific diagnostic biomarkers is a major contributor to the poor outcomes of patients with hepatocellular carcinoma (HCC). We sought to develop a non-invasive diagnostic approach using circulating cell-free DNA (cfDNA) for the early detection of HCC.

Design

Applying the 5hmC-Seal technique, we obtained genome-wide 5-hydroxymethylcytosines (5hmC) in cfDNA samples from 2554 Chinese subjects: 1204 patients with HCC, 392 patients with chronic hepatitis B virus infection (CHB) or liver cirrhosis (LC) and 958 healthy individuals and patients with benign liver lesions. A diagnostic model for early HCC was developed through case-control analyses using the elastic net regularisation for feature selection.

Results

The 5hmC-Seal data from patients with HCC showed a genome-wide distribution enriched with liver-derived enhancer marks. We developed a 32-gene diagnostic model that accurately distinguished early HCC (stage 0/A) based on the Barcelona Clinic Liver Cancer staging system from non-HCC (validation set: area under curve (AUC)=88.4%; (95% CI 85.8% to 91.1%)), showing superior performance over α-fetoprotein (AFP). Besides detecting patients with early stage or small tumours (eg, ≤2.0 cm) from non-HCC, the 5hmC model showed high capacity for distinguishing early HCC from high risk subjects with CHB or LC history (validation set: AUC=84.6%; (95% CI 80.6% to 88.7%)), also significantly outperforming AFP. Furthermore, the 5hmC diagnostic model appeared to be independent from potential confounders (eg, smoking/alcohol intake history).

Conclusion

We have developed and validated a non-invasive approach with clinical application potential for the early detection of HCC that are still surgically resectable in high risk individuals.
Are observed associations between a high maternal prepregnancy body mass index and offspring IQ likely to be causal?
Authors: Coo Helen , Fabrigar Leandre , Davies Gregory , Fitzpatrick Renee , Flavin Michael
Published: July 2019

Background

A high maternal prepregnancy body mass index has been associated with lower offspring IQ, but it is unclear if the relationship is causal. To explore this, our objectives were to compare maternal and paternal estimates and to assess whether certain factors mediate the association.

Methods

We analysed data from the Avon Longitudinal Study of Parents and Children, which initially recruited 14 541 women residing in Avon, UK, with an expected date of delivery in 1991–1992. Data were collected during and after pregnancy by questionnaire, medical record abstraction and clinical assessment. At approximately 8 years of age, psychologists administered an abbreviated form of the Wechsler Intelligence Scale for Children-III. We fit multivariable logistic regression models to estimate parental prepregnancy obesity and overweight–offspring IQ associations. Counterfactually defined indirect (mediated) effects of maternal prepregnancy obesity on offspring IQ were estimated through path analysis.

Results

Among 4324 mother–father–child triads and using normal weight as the referent, we observed consistently stronger associations for maternal prepregnancy obesity and offspring performance IQ (eg, adjusted β (95% CI)=−3.4 (−5.7 to −1.2) vs −0.97 (−2.9 to 0.96) for paternal obesity). The indirect effects of maternal obesity on offspring IQ through pathways involving gestational weight gain and duration of breastfeeding were small but significant.

Conclusion

Our findings are consistent with a weak biologic effect of maternal adiposity in pregnancy on offspring performance IQ. Given the growing prevalence of obesity worldwide, more evidence is needed to resolve the correlation versus causation debate in this area.
118 Case series: subacute combined degeneration of the spinal cord in vitamin B12-replete recreational nitrous oxide abusers
Authors: Blair Chris , Tremonti Chris , Edwards Leon , Haber Paul , Halmagyi Michael
Published: July 2019

Introduction

Within a few years of its discovery in late 18th century, nitrous oxide was being used recreationally for its pleasurable effects. It remains in widespread use as an inhaled stimulant today, and can be legally acquired in bulk quantities with relative ease. In the body prolonged exposure to nitrous oxide leads to the oxidization of vitamin B12, rendering it unusable in key enzymatic reactions necessary for myelin synthesis. Over time this qualitative deficiency leads to a central demyelination syndrome that characteristically develops despite normal serum vitamin B12 levels and, with continued exposure to nitrous oxide, resists treatment with vitamin B12 supplementation.

Method

Nitrous oxide abusers presenting with a central demyelination syndrome were enrolled in this case series. Serum levels of vitamin B12, active B12, folate and homocysteine were measured. Nitrous oxide exposure was discontinued, and all patients were treated in accordance with evidence-based guidelines.

Results

Eight patients presented with predominantly moderate-to-severe clinical deficits. The majority were vitamin B12 replete. In most cases individuals had actively engaged in prolonged vitamin B12 supplementation in an attempt to circumvent the harmful pathophysiology, of which they were loosely aware. Following treatment and rehabilitation several patients were discharged into full-time care, and most had significant residual disability at follow-up.

Conclusions

This case series not only illustrates the tragic consequences of abuse of this widely available and legally procured stimulant, but also highlights the futility of pursuing a nominally ‘protective’ strategy of vitamin B12 supplementation in the context of continued nitrous oxide exposure.
133 B cell depletion therapy resulting in sustained remission of severe autoimmune complications following alemtuzumab treatment of multiple sclerosis
Authors: Massey Jennifer , Sutton Ian
Published: July 2019

Introduction

Alemtuzumab is a pan-lymphocyte ablating anti CD-52 monoclonal antibody licensed for the treatment of relapsing remitting multiple sclerosis (RRMS). Despite being classified as a high efficacy therapy, clinical application of alemtuzumab has been hampered by the frequent occurrence of secondary autoimmune disease (AID), with clinical trials and single-centre follow up cohorts estimating an incidence of up to 50% at seven years post treatment. Despite the establishment of pharmacovigilance programs to monitor for common complications of alemtuzumab, management guidelines for these conditions are lacking.

Methods

Here, we report a series of cases of female patients treated with alemtuzumab for RRMS who developed treatment refractory secondary AID complications; specifically acquired haemophilia A (AHA) and an autoimmune encephalitis (AIE).

Results

We report the sustained remission of these severe autoimmune disorders following administration of anti-CD20 therapy. This supports the current understanding of alemtuzumab associated AIDs, which occur in a time frame in which B-cell hyperpopulation and peripheral expansion occurs following initial lymphoablation.

Conclusions

Thus, we suggest that B-cell depletion should be initiated early in patients with severe, refractory complications of alemtuzumab. Furthermore, we suggest vigilant monitoring of patients with a preceding history of autoimmune thyroid disease following alemtuzumab treatment, as our experience suggests these patients have already demonstrated the potential to develop secondary AID.
029 Time equals brain – retrospective analysis of thrombolysis in regional australia to determine factors which influence door to needle time
Authors: Nindra Udit , Wonson Toni M , Fuller Karen
Published: July 2019

Introduction

Minimising delay in thrombolysis is a key outcome in acute stroke care.

Methods

A 3 year retrospective cohort analysis of all acute stroke admissions in Wollongong Hospital, a major regional referral centre in New South Wales, was completed to determine the causes of in-hospital delays for thrombolysis. Data collected included age, baseline National Institute of Health Stroke Scale (NIHSS) score, onset time, arrival time, CT imaging & reporting time and outcomes of the event.

Results

From 656 admissions, 70 cases of thrombolysis were recorded 56 cases of endovascular thrombectomy. The mean time from onset to arrival was 85 minutes, from arrival to CT was 31 minutes and from door to needle time (DNT) was 108 minutes. Multiple regression analysis revealed a an inverse linear association between onset to arrival time and DNT. Age, stroke severity and gender were not shown to impact treatment times. The results showed that there was a paradoxical association between arrival time and DNT. The cause for this was not clearly identified but similar to previous studies is likely to be contributed by a lack of urgency when initiating management.1 2

Conclusion

For every 30-minute delay in hospital arrival, there was a 13- minute reduction in DNT. In light of this, education trials to promote ‘time equals brain’ understanding amongst stroke first responders is being implemented to aim to reduce DNT to less than 80 minutes. The results of this are anticipated to be available in mid 2019.

References

Albers GW, Bates VE, Clark WM. Intravenous tissue-type plasminogen activator for treatment of acute stroke: The Standard Treatment with Alteplase to Reverse Stroke (STARS) Study. Journal of the American Medical Association 2000; 283:1145–1150.

Romano JG, Muller N, Merino JG, Forteza AM, Koch S, Rabinstein AA. In-hospital delays to stroke thrombolysis: paradoxical effct of early arrival. Neurological Research 2007;29:664–666.
030 Management and attitudes towards persons with epilepsy in general practice: how far have we come?
Authors: Sharobeam Angelos , Mamun Abul , Beran Roy G
Published: July 2019

Introduction

Previous surveys of general practitioners (GP) attitudes regarding epilepsy and people with epilepsy (PWE), conducted 20–30 years ago1 2, identified the need for further education in epilepsy care for GPs. This follow up study of GPs in Sydney, Australia, was conducted to determine the degree of changes in knowledge, attitudes and management of PWE, to evaluate if there had been significant improvement during this period.

Methods

A piloted questionnaire addressing epilepsy investigations, preferred care provider and attitudes towards epilepsy was developed and completed by a representative sample of Sydney GPs.

Results

A total of 52 completed responses were received. 36 out of 47 GPs (77%) chose neurologists as the most important care giver, followed by the GP (9/47; 18.7%), 25/51 respondents (49%) mentioned they never personally initiated anti-epileptic medication (AEM) and another 27% (14/51 GPs) rarely commenced AEM therapy. 6/50 GPs did not mention EEG as a routine investigation and 21/50 did not mention MRI as routine for PWE. The five most commonly prescribed AEMs, according to frequency were sodium valproate (42), carbamazepine (37), levetiracetam (31), lamotrigine (16) and phenytoin (15). Newer AEMs, available for over a decade in Australia were not mentioned. Emotional, behavioral psychosocial issues were perceived to be more common amongst PWE.

Conclusion

The study indicates little perceptual shift regarding GP’s attitudes to epilepsy, and significant deficiencies in knowledge, particularly with regards to investigations and management. The findings reinforce a need for more formal training of GPs caring for PWE.

References

Beran RG, Read T. A survey of doctors in Sydney, Australia: perspectives and practices regarding epilepsy and those affected by it. Epilepsia. 1983;24(1):79–104.

Frith JF, Harris MF, Beran RG. Management and attitudes of epilepsy by a group of Sydney general practitioners. Epilepsia. 1994;35(6):1244–7.
033 Cluster of creuzfeldt-jakob disease in the south western sydney local health district population in the past 5 years
Authors: Dhanapalaratnam Roshan , Cappelen-Smith Cecilia , Thomas Peter , Beran Roy G
Published: July 2019

Introduction

Noting a perceived increased case-load of Creuzfeldt-Jakob disease (CJD) patients at Liverpool Hospital, in the South-Western Sydney Local Health District (SWSLHD), the authors questioned the accepted death from CJD incidence of 1 per million.

Methods

We reviewed the District Health-Information-Exchange (HIE) database for all admissions with CJD diagnoses in SWSLHD hospitals, over a 5-year period 2014–2018. The SWSLHD services a population of 1,001,437. The HIE identified cases were reviewed according to World Health Organization (WHO) diagnostic criteria as used by the Australian national CJD registry. Definite and probable CJD cases were included in the study. Incidence per year was calculated from the final case number across the 5-year SWSLHD population.

Results

26 patients coded with a diagnosis of CJD were identified from HIE database over the period. These cases were critically reviewed and 20 confirmed as definite (n=4) or probable CJD (n=16) cases. The diagnoses of excluded patients (n=6) were herpes simplex encephalitis, paraneoplastic encephalitis, delirium, and 2 with progressive multifocal leukoencephalopathy. Calculated incidence based on 5-year SWSLHD population was 4.16 cases per 1 million population/year.

Conclusions

In the 5-year period, we note an incidence of definite and probable CJD cases in the SWSLHD population, four times the national and worldwide reported rates. Cases from the last 2-months of 2018 are pending at the time of submission, which may alter these observations. These findings most likely represent a cluster of cases in the SWSLHD area but may alternatively reflect either better recognition or increased incidence of CJD.
047 Acute lumbosacral plexopathy after blood loss in a patient with bilateral common iliac artery occlusion
Authors: Katz Matthew , McCombe Pamela
Published: July 2019

Introduction

We present a case of a 56 year old male with bilateral, asymmetric leg weakness from ischemic lumbosacral plexopathy. This followed acute blood loss from an episode of self-harm, which occurred in the setting of chronic thrombotic occlusion of bilateral common iliac artery (CIA) stents.

Methods

A detailed history, examination and neurophysiology study were performed in addition to reviewing case notes and results of other investigations. A brief literature review was also completed.

Results

The patient presented with acute blood loss following self-inflicted lacerations to his anterior neck and both wrists. He had asymmetric flaccid, areflexic weakness of his legs with decreased sensation over the right foot and absent distal leg pulses. Magnetic resonance imaging (MRI) of brain and whole spine was normal. Computed tomography angiogram (CTA) revealed significant distal aortic atherosclerotic disease with complete occlusion of bilateral CIA stents. The patient underwent endovascular re-stenting of both common iliac arteries with a good angiographic result. An electromyogram per-formed one month later was supportive of a lumbosacral plex-opathy, mainly on the right.

Only three cases of acute ischemic lumbosacral plexopathy have been reported in the setting of aorto-iliac occlusive disease.1–3

Conclusion

Ischemic injury to the lumbosacral plexus is rare, especially outside the surgical setting as seen in this case. It is important to consider this cause in any patient presenting with rapid onset asymmetric, bilateral leg weakness as early recognition and reperfusion may prevent further damage and reduce long-term disability.

References

Schreuder AH, Fennis TF, Teijink JA, Koehler PJ. Lumbosacral plexopathy associated with aortoiliac occlusive disease. J Neurol. 2007;254(6):803–5.

Chhetri SK, Lekwuwa G, Seriki D, Majeed T. Acute flaccid paraparesis secondary to bilateral ischaemic lumbosacral plexopathy. QJM. 2013;106(5):463–5.

Yun S. Ischaemic lumbosacral plexopathy following an acute thrombosed abdominal aortic aneurysm mimicking stroke: A case report. Hong Kong Journal of Emergency Medicine. 2016;23(2):52–6.
063 Headache with periorbital ecchymosis; a rare clinical entity
Authors: Vijayan Srimathy , Orr Carolyn , Franconi Catherine
Published: July 2019

Objectives

Primary headache disorders are common with migraine and tension headache accounting for the vast majority of cases. A smaller proportion suffer from trigeminal autonomic cephalgia (TAC). We present a 23-year-old Caucasian female who described characteristic, episodic headaches starting with a dull retro-orbital/bi-frontal pressure evolving, over the course of 1 minute, to experience florid periorbital ecchymosis. While this phenomenon has been described in the literature, the characteristics of our case are unique and noteworthy of reporting.

Methods

We reviewed the literature surrounding this rare entity by using PubMed/OVID databases and the search terms ‘Headache AND ecchymosis’.

Results

Case reports exist in older patients1–3, where the headache is side locked and associated with other autonomic characteristics such as periorbital oedema, conjunctival injection and tearing. Our case is a young female with only ecchymosis in a unilateral and/or bilateral manner and no other autonomic or indeed migraine features. The patient underwent vascular/cranial imaging and blood tests to exclude haematological, autoimmune, vasculitic causes for this presentation which were unrewarding.

Conclusion

Variations on this clinical entity are described;1–4 we hope this report may bring attention to this fascinating phenomenon. The pathophysiological process is likely to be similar to those implicated in TACs, namely activation of the trigemino-neurovascular system and facial autonomic pathways. The release of neuromediators such as CGRP, VIP and Substance P cause blood vessel fragility resulting in diapedesis. Optimal treatment regimens are unknown but various agents have been trialled. Our patient declined treatment and continues to be followed.

References

DeBroff B, et al. Migraine Associated with Periorbital Ecchymosis. Headache 1990;30:260–263.

Dafer R, et al. Atypical Chronic Headache and Recurrent Facial Ecchymosis: A Case Report. Neuro-Ophthalmology 2011;35:76–77.

Nozzolillo D, et al. Migraine associated with facial ecchymoses ipsilateral to the symptomatic side. J Headache Pain ( 2004) 5:256–259.

Sethi PK, et al. Teaching neuroimages: Red forehead dot syndrome and migraine revisited. Neurology 2015;85;e28.
075 A case of spontaneous CSF rhinorrhea in a patient with marfan syndrome
Authors: Upadhyay Viral , Khan Salman
Published: July 2019

Introduction

Spontaneous cerebrospinal fluid leak is uncommon condition and frequently associated with hereditary disorders of connective tissues. Nasal CSF leakage is extremely rare.1

Methods and results

We present the case of a 40-year-old woman presented to hospital for few days history of postural headache associated with clear intermittent discharge from right nostril without any signs of meningism. There was no history of trauma. She has a background history of Marfan syndrome with associated complications of ASD repair at age 2, mechanical Aortic and Mitral valve replacement, aortic root repair, previous ST elevation MI with LV dysfunction, automated implantable cardioverter-defibrillator in situ, atrial fibrillation, and Hashimoto’s thyroiditis. Her regular medications are warfarin, bisoprolol and thyroxine. The clear nasal discharge was positive for β-2 transferrin confirming cerebrospinal fluid. Her CT Brain did not reveal any clear site of CSF leak. She had a flexible nasendoscopy which showed normal nasal passageway, no defect in nasal mucosa and no active CSF leakage. She was managed conservatively with strict bed rest and advised to minimise strenuous activity and heavy lifting.

Conclusion

Spontaneous cerebrospinal fluid leak is uncommon condition and frequently associated with hereditary disorders of connective tissues. Nasal CSF leakage is extremely rare.1 Testing β-2 transferrin has high sensitivity and specificity.2Initial treatment may include bed rest, oral or intravenous hydration, oral caffeine or corticosteroids.3 4 If conservative therapy fails, surgical repair with nasal endoscopic approach is recommended.2 5

References

Ommaya A, Di Chiro G, Baldwin M, Pennybacker J. Non-traumatic cerebrospinal fluid rhinorrhoea. Journal of Neurology, Neurosurgery & Psychiatry 1968;31(3):214-–225.

Wang E, Vandergrift W, Schlosser R. Spontaneous CSF Leaks. Otolaryngologic Clinics of North America 2011;44(4):845–856.

Milledge J, Ades L, Cooper M, Jaumees A, Onikul E. Severe spontaneous intracranial hypotension and Marfan syndrome in an adolescent. Journal of Paediatrics and Child Health 2005;41(1–2):68–71.

Placantonakis D, Bassani L, Graffeo C, Behrooz N, Tyagi V, Wilson T, et al. Noninvasive diagnosis and management of spontaneous intracranial hypotension in patients with marfan syndrome: Case Report and Review of the Literature. Surgical Neurology International 2014;5(1):8.

Spontaneous cerebrospinal fluid rhinorrhea. Medicine 2018;97(7):e9954.
076 A rare case of anti-glutamate decarboxylase antibody syndrome presenting with recurrent vomiting
Authors: Dal Shoaib , O’Brien Bill
Published: July 2019

Introduction

Anti-glutamte decarboxylase antibody (anti-GAD) has been linked with various neurological syndromes including stiff-person syndrome, limbic encephalopathy, cerebellar ataxia, eye movement disorders and epilepsy (collectively known as ‘anti-GAD positive neurological syndromes’).1 We describe a very atypical phenotypic presentation of anti-GAD syndrome with unexplained vomiting and weight loss.

Case

A 46 years old lady with no past medical or family history of note, presented with 6 months history of severe headaches and recurrent attacks of episodic vomiting (4–6 episodes of multiple vomiting daily) with no identified precipitant and complete normality in between the episodes with no other associated symptoms. She reported 15 kg of unintentional weight loss. Neurological examination and investigations including MRI brain, CT angiogram and liver enzymes, immunoglobulins, thyroid function, vasculitic screen were normal. Upper GI endoscopy, gastric emptying studies, CT imaging of chest, abdomen and pelvis and whole body PET scan were unremarkable. Serum autoimmune antibody screen was positive with high titre of anti-GAD antibody (1200 kU/liter). The cerebrospinal fluid anti-GAD antibody titre was raised at 103.7 kU/liter with otherwise normal parameters including negative oligoclonal bands. The nerve conduction studies did not show continuous motor activity or spasmodic reflex myoclonus (seen in stiff-person syndrome).2 A therapeutic trial of immunosuppression was introduced with moderate improvement in symptoms.

Conclusion

Anti-GAD neurological syndromes are rare and this is a unique presentation of the same. It is not completely understood why the presence of one antibody causes varied syndromes. The hypothesis is that the recurrent vomiting is possibly due to diaphragmatic spasms.

References

Saiz A, Blanco Y, Sabater L, et al. Spectrum of neurological syndromes associated with glutamic acid decarboxylase antibodies: diagnostic clues for this association. Brain 2008;131:2553–2563.

Buechner S, Florio I, Capone L. Stiff person syndrome: A rare neurological disorder, heterogeneous in clinical presentation and not easy to treat. Case Rep Neurol Med2015; 2015:278065.
083 Novel wireless S – patch device may efficiently detect atrial fibrillation in patients with ischaemic stroke
Authors: Lazarovska Suzana , Tie Hui , Hopkins Andrew , Dimitri Hany , Premawardhana Upul , Mcdougall Alan , Gopinath Sumana , Chow Josephine , Rajaratnam Rohan
Published: July 2019

Introduction

Atrial fibrillation (AF) is the most common atrial arrhythmia leading to increased risk of thromboembolic events. Ward telemetry (WT) has a low detection rate for AF in stroke patients and often patients are not appropriately treated with anticoagulation. This study compares conventional 2-day WT versus 4-day wireless S-patch monitoring to detect AF.

Methods

Prospective case series.

Results

51 patients admitted for stroke workup were recruited across 2 major tertiary centre’s in Sydney to compare WT monitoring for 2 days versus S-patch monitoring for 4 days in the detection of AF. The efficacy to detect AF using both technologies across 76 hours of telemetry was assessed via data extractions and Cardiologist review. A matrix was used to measure nursing/patient satisfaction and setup/resource times were assessed.

84–94% of patients and 75–95% of nursing preferred the S-Patch. Non-parametric tests indicate significant time saving for removal of S-Patch versus WT [2.2 mins vs 5.1 mins (p=0.00)]. Efficacy of S-Patch to detect AF following Cardiologist review was greater than WT, with 7 patients identified with AF by S-Patch versus 1 using WT. The S-patch had a false positive rate of 78%.

Conclusion

The S-patch had a higher detection rate of AF compared to WT. This allows patients to be anticoagulated appropriately for the prevention of further stroke. Analysis shows patients and staff overwhelmingly prefer the S-Patch. The S-Patch is sensitive in the detection of AF however it showed a high false positive rate. We are confident that further refinement and advances will provide a novel device in the detection of AF.
092 Motor neuron disease with malignancy: clinical and pathophysiological insights
Authors: Higashihara Mana , Menon Parvathi , Geevasinga Nimeshan , Bos Mehdi AJVan den , Kiernan Matthew C , Vucic Steve
Published: July 2019

Introduction

While some regard an association between motor neuron disease (MND) and malignancy as co-incidental, others have argued that it could represent a distinct clinical entity. The present study undertook in depth phenotyping along with assessment of cortical function to further explore disease pathophysiology in MND with malignancy (MND-M) patients.

Methods

Clinical features along with assessment of peripheral and cortical function was undertaken in 13 MND-M and results were compared to sporadic and familial MND cohorts.

Results

From a cohort 13 patients (10 males; aged 65.2±2.0 years), 30.8% were diagnosed with a haematological malignancy. The lower motor neuron phenotype predominated in the in the MND-M patients (χ2=10.8, P<0.01), with the upper motor neuron (UMN) score being significantly reduced in MND-M patients compared to sporadic and familial MND cohorts (χ2=6.84, P<0.01). The neurological deficits did not respond to treatment of the underlying malignancy in the majority of MND-M (92%) patients, and as such there were no significant differences in survival between the cohorts. Despite a paucity of UMN signs, cortical hyperexcitability was evident in MND-M patients, as indicated by reduction in short interval intracortical inhibition (P<0.01) and increase in motor evoked potential amplitude (P<0.01), that were similar to findings in sporadic and familial MND cohorts.

Conclusions

The present study suggests that MND-M falls within the spectrum of MND. A co-incidental association between MND and malignancy is underscored by cortical dysfunction and clinical findings which seems within the spectrum of abnormality evident in classical MND phenotypes.
009 Axonal excitability properties in dravet’s syndrome reflect effect of loss of sodium channels
Authors: Farrar Michelle A , Tomlinson Susan E , Howells James , Lin Cindy Shin-YI , Carey Kate , Park Susanna B , Hollingsworth Georgina , Lawson John A , Kiernan Matthew C , Berkovic Sam F , Burke David , Scheffer Ingrid E
Published: July 2019

Introduction

Mutations in SCN1A encoding the Nav1.1 subunit of the neuronal sodium channel underlie the devastating epilepsy of Dravet’s syndrome.1 The mechanism by which Nav1.1 dysfunction causes seizures is not clear. In vitro and in silico channel evaluation can support mutation pathogenicity but cannot define the in vivo impact of channel dysfunction. Axonal excitability studies can show the pattern of single-channel dysfunction in disorders where the channel is peripherally expressed.2 This study was undertaken to determine whether axonal excitability studies could detect changes in Dravet’s patients related to the condition or due to medication effect.

Methods

Patients with Dravet’s syndrome were recruited from clinics in Sydney and Melbourne and axonal excitability studies were performed. Excitability results were analysed in 3 age groups and compared to age-matched normal controls.

Results

Twenty six patients (ages 2–46) were studied. Findings were most pronounced in patients aged 20–46 (n=7) with 6.9% greater increase in threshold during hyperpolarization(p=0.1), 7.6% greater threshold decrease on depolarization(p=0.005) and, in the recovery cycle, 19.7% reduction in superexcitability(p=0.002) and 26% reduction in subexcitability(p=0.03). Axonal excitability studies resembled previously published changes seen in patients with sodium channel blockade caused by acute tetrodotoxin poisoning.3

Conclusions

Changes in excitability of axonal membrane in Dravet’s syndrome are consistent with a decrease in sodium channel function. As the affected channel in Dravet’s syndrome is not peripherally expressed, the effect seen is likely due to the heavy anticonvulsant regime required to control epilepsy, combined with a progressive loss of sodium channel function that occurs with age.

References

Meisler MH, O’Brien JE, Sharkey LM. Sodium channel gene family: epilepsy mutations, gene interactions and modifier effects. J Physiol 2010;588:1841–1848.

Tomlinson SE, Howells J, Burke D. In vivo assessment of neurological channelopathies: Application of peripheral nerve excitability studies. Neuropharmacology. 2018 Apr;132:98–107.

Kiernan MC, Isbister GK, Lin CS, Burke D, Bostock H. Acute tetrodotoxin-induced neurotoxicity after ingestion of puffer fish. Ann Neurol 2005;57:339–48.
103 New zealand hospital stroke service provision: a national survey
Authors: Thompson Stephanie , Douwes Jeroen , Barber Alan , Cadilhac Dominique , McNaughton Harry , Gommans John , Fink John , Davis Alan , Feigin Valery , Ranta Anna
Published: July 2019

Introduction

The REGIONS Care study assesses stroke care throughout New Zealand. It includes a national audit and here we present organisational survey results assessing current availability of interventions and management approaches in each hospital.

Methods

All 20 District Health Boards were invited to complete a survey about patients managed per annum, care setting, and service provision. Results were grouped into rural and urban groups to assess for geographic differences.

Results

All NZ hospitals managing stroke patients completed the survey. Results found that of these hospitals 92% have an acute stroke unit, 85% have a TIA pathway, but only 58% offer rapid access specialist TIA services. 100% offer thrombolysis, 92% use pre-hospital notification and rapid ED triage system, and 73% an in-hospital ‘code stroke’ alert. 50% have access to thrombectomy. Only 32% offer a dedicated inpatient stroke rehabilitation unit. While 92% provide community rehabilitation, only 11% offer early supported discharge programmes. 87% routinely provide stroke patient education, but only 54% provide individualised stroke care plans at discharge. Only 28% have access to a psychologist. In-hospital stroke alerts (p=0.014), access to thrombectomy (p=0.016), access to stroke unit care (p=0.027), and routine referral to stroke foundation (p=0.049) were more common in urban areas.

Conclusion

The results of this organisational survey indicates that stroke care provision has improved since the last audit in 2009, but important gaps remain. These results will help services focus on specific areas for improvement, some of which such as pre-hospital alerts should be relatively easy to address.
Distressed doctors: a narrative and historical study of work-related mental discomfort among practising physicians
Authors: Wistrand Jonatan E G
Published: July 2019

This article explores the complexity of mental distress among physicians, as portrayed in two literary narratives: John Berger and Jean Mohr’sA Fortunate Man: The Story of a Country Doctor(1967) and Pia Dellson’sVäggen: En utbränd psykiaters noteringar(2015, ‘The Wall: Notes by a Burnt-Out Psychiatrist’). Departing from a historical understanding of medical practice, the article seeks to discuss whether some of the noted similarities and differences in the two narratives could be related to changes appearing over time in the role model of the medical encounter. As the two narratives provide illustrative descriptions of the difficulties experienced by doctors suffering from mental discomfort, they also call for a greater awareness among medical practitioners of the sociological terms of doctoring. Practising a person-centred, rather than patient-centred, care might be part of such awareness and is discussed as a possible protective strategy for physicians at risk of work-related mental distress.
Deep brain stimulation: practical insights and common queries
Authors: Baig Fahd , Robb Thomas , Mooney Lucy , Robbins Caroline , Norris Caroline , Barua Neil , Szewczyk-Krolikowski Konrad , Whone Alan
Published: July 2019

The number of patients with deep brain stimulation (DBS) devices implanted is increasing. Although practices vary between centres, patients are typically given training and information from their DBS nurse or clinician, as well as a comprehensive device manual and contact details for their device manufacturer. However, for the lifetime of a patient with a DBS system, most of their secondary care often occurs in a centre without a co-located DBS service. The local neurologist is often asked pragmatic questions regarding the do’s and don’ts for patients with DBS systems. While a DBS centre or device manufacturer can provide advice, we thought that it will be helpful to outline the overall management of DBS for movement disorders and the approach to commonly raised questions. We describe briefly the clinical application of DBS and discuss common scenarios where there are possible compatibility issues around the device.
Non-commutative quantum gravity phenomenology in underground experiments
Authors: Addazi Andrea , Bernabei Rita
Published: July 2019

We show how non-commutative spacetime models can induce Pauli Exclusion Principle (PEP) forbidden nuclear and atomic transitions. We focalize our analysis on one of the most popular instantiations of non-commutativeness: [Formula: see text]-Poincaré model, based on the Groenewold–Moyal plane algebra. We show that PEP violating transitions induced by [Formula: see text]-Poincaré have an energy scale and angular emission dependence. PEP violating transitions in nuclear and atomic systems can be tested with very high accuracy in underground laboratory experiments such as DAMA/LIBRA and VIP(2). We derive that the Equivalence Principle assumed [Formula: see text]-Poincaré model can be already ruled-out until the Planck scale, from nuclear transitions tests by DAMA/LIBRA experiment.
The generalized uncertainty principle with commuting coordinates
Authors: Chung Won Sang
Published: July 2019

In this paper, we present a new D-dimensional generalized uncertainty principle (GUP) algebra with commuting coordinates which recovers [Formula: see text] in one dimension. We find two representations for this GUP: momentum representation and position representation. We discuss the GUP-corrected three-dimensional quantum mechanics in position representation for a small [Formula: see text]. Finally, we discuss the momentum wave function and GUP-corrected Fermi metal theory.
Pressure effects on mechanical and electronic properties of metallic C14 by first-principles calculation
Authors: Zhou Yingjiao , Wei Qun , Wei Bing , Yang Ruike , Cheng Ke , Zhang Meiguang , Yan Haiyan , Chen Qinghua , Zhang Junqin
Published: July 2019

The elastic constants and phonon dispersion of metallic C[Formula: see text] are calculated by first-principles calculations. The results show that the metallic C[Formula: see text] is mechanically and dynamically stable under high pressure. The variations of G/B ratio, Poisson’s ratio, elastic anisotropy, acoustic velocity and Debye temperature at the pressure range from 0 GPa to 100 GPa are analyzed. The results reveal that by adjusting the pressures the elastic anisotropy and thermodynamic properties could be improved for better applicability.
HUMIDITY AND TEMPERATURE DEPENDENT CHARACTERISTICS OF Ag/SnNcCl2/Ag SURFACE TYPE MULTIFUNCTIONAL SENSOR
Authors: WAJID ABDUL , TAHIR MUHAMMAD , ARIF  , UDDIN SAYYED IZAZ , WAHAB FAZAL
Published: July 2019

In this work, the potential of tin (IV) 2,3-napthalocyanine dichloride (SnNcCl2) has been studied for sensing applications due to its hydrophobic nature. The multipurpose sensor was fabricated by depositing 50-nm silver (Ag) electrodes on a glass substrate through vacuum thermal evaporation at pressure of [Formula: see text] mbar. With the help of masking, a 40-micron inter-electrode gap between Ag electrodes was developed and then 80-nm film of SnNcCl2 was thermally deposited in the inter-electrode gap resulting in a surface type Ag/SnNcCl2/Ag multipurpose sensor and was studied for humidity and temperature sensing. The humidity characterization was carried out at two different frequencies, i.e. 120 and 1[Formula: see text]kHz in the relative humidity range 35–85% RH and 5.5 and 1.3 times increase was recorded with respect to initial capacitance for both frequencies, respectively. The temperature sensing was studied within a temperature range of 15–80∘C at 120[Formula: see text]Hz frequency and 1.3 times increase in capacitance was observed with respect to initial capacitance. The sensor’s important parameters, i.e. response time and recovery time were measured to be 8 and 3[Formula: see text]s at 120[Formula: see text]Hz for humidity measurements. The morphology of the SnNcCl2 thin film was measured by atomic force microscope (AFM) and scanning electron microscope (SEM) showing rough surface favorable for sensing applications. The amorphous structure of the film was confirmed by X-ray diffraction (XRD) while optical bandgap was calculated from ultraviolet-visible (UV-vis) spectroscopy.
Structural Damage Identification Under Temperature Variations Based on PSO–CS Hybrid Algorithm
Authors: Huang MinShui , Cheng ShaoXi , Zhang HaiYang , Gul Mustafa , Lu HaiLin
Published: July 2019

Using the variations in parameters to detect structural damages has been widely used in damage identification of structures. When exposed to varying temperatures, not only the displacements and stresses of a structure will change, but also the elastic modulus of the materials, such as concrete and steel, of which the structure is made. Since the variation in elastic modulus will result in the variation of the stiffness of the structure, a damage identification method without considering the temperature effects is, in principle, unacceptable. In this study, a damage identification method using the particle swarm optimization combined with the cuckoo search (PSO–CS) under the noise and temperature environment is proposed. First, the temperature variations are combined with the elastic modulus variation for addressing the temperature effects in finite element model. Second, a PSO–CS hybrid algorithm is adopted, which applies the updated mechanism of PSO in CS. Third, objective functions comprised of different modal messages with diverse weight coefficients are constructed for the damage identification and validated by numerical analysis of a simply supported beam. The results show that the performance of the PSO–CS is better than either PSO or CS individually. Finally, the PSO–CS is applied to the damage identification of ASCE Benchmark frame, for which the results indicate a satisfactory accuracy of the effectiveness of the proposed scheme.
A note on an “Anzahl” theorem of P. Hall
Authors: Wei Boyan , Qu Haipeng , Luo Yanfeng
Published: July 2019

Let [Formula: see text] be a prime and [Formula: see text] a finite [Formula: see text]-group. Hall proved [Formula: see text] for [Formula: see text], where [Formula: see text] is the number of subgroups of index [Formula: see text] which do not contain the Frattini subgroup of [Formula: see text]. We determine the minimal values of [Formula: see text] for [Formula: see text] and [Formula: see text].
A Hopf algebra on subgraphs of a graph
Authors: Wang Xiaomeng , Xu Shou-Jun , Gao Xing
Published: July 2019

In this paper, we construct a bialgebraic and further a Hopf algebraic structure on top of subgraphs of a given graph. Further, we give the dual structure of this Hopf algebraic structure. We study the algebra morphisms induced by graph homomorphisms, and obtain a covariant functor from a graph category to an algebra category.
An Optimized Selection Method of Channel Numbers and Electrode Layouts for Hand Motion Recognition
Authors: Hua Jiang , Li Gongfa , Jiang Du , Zhao Haoyi , Qi Jinxian
Published: July 2019

The channel numbers and electrode layouts are usually determined empirically that would reduce robustness when acquiring surface electromyography (EMG) signals for prosthetic hand systems. It is necessary to study how they can be exploited effectively for a more accurate extraction. In response to the problem, an experiment is designed that establishes the relationship between sEMG signals and forearm muscles based on signal-to-noise ratio (SNR). The SNR of sEMG signals in different sampling channels can be calculated and compared, and then the potential contribution of each channel during different hand motions will be evaluated comprehensively. The active muscle regions can be obtained from the established relationship that is a useful reference for feature extraction. Finally, the relations between the computational cost, channel numbers and electrode layouts are explored. The findings of this paper support the idea that the accuracy of pattern recognition will not be affected when reducing the redundant electrodes.
Bounding f(R,T) gravity by particle creation
Authors: Asadiyan K. , Darabi F. , Pedram P. , Atazadeh K.
Published: July 2019

We consider the possibility of the quantum vacuum states in [Formula: see text] gravity. Particularly, we study the Bogoliubov transformations associated to different vacuum states for some [Formula: see text] models. The method consists of fixing the [Formula: see text] free parameters by requiring the Bogoliubov coefficients to be minimized. In such a way, the particle production is related to the value of the Hubble parameter and also the given [Formula: see text] model.
Fractional matching preclusion for radix triangular mesh
Authors: Wang Xia , Ma Tianlong , Yin Jun , Ye Chengfu
Published: July 2019

The matching preclusion number of a graph is the minimum number of edges whose deletion results in a graph that has neither perfect matchings nor almost perfect matchings. As a generalization, Liu and Liu recently introduced the concept of fractional matching preclusion number. The fractional matching preclusion number (FMP number) of [Formula: see text], denoted by [Formula: see text], is the minimum number of edges whose deletion leaves the resulting graph without a fractional perfect matching. The fractional strong matching preclusion number (FSMP number) of [Formula: see text], denoted by [Formula: see text], is the minimum number of vertices and edges whose deletion leaves the resulting graph without a fractional perfect matching. In this paper, we study the fractional matching preclusion number and the fractional strong matching preclusion number for the radix triangular mesh [Formula: see text], and all the optimal fractional matching preclusion sets and fractional strong matching preclusion sets of these graphs are categorized.
Interferometric Fringe Visibility Null as a Function of Spatial Frequency: A Probe of Stellar Atmospheres
Authors: Armstrong J. T. , Jorgensen A. M. , Mozurkewich D. , Neilson H. R. , Baines E. K. , Schmitt H. R. , van Belle G. T.
Published: July 2019

We introduce an observational tool based on visibility nulls in optical spectro-interferometry fringe data to probe the structure of stellar atmospheres. In a preliminary demonstration, we use both Navy Precision Optical Interferometer (NPOI) data and stellar atmosphere models to show that this tool can be used, for example, to investigate limb darkening.

Using bootstrapping with either multiple linked baselines or multiple wavelengths in optical and infrared spectro-interferometric observations of stars makes it possible to measure the spatial frequency [Formula: see text] at which the real part of the fringe visibility [Formula: see text] vanishes. That spatial frequency is determined by [Formula: see text], where [Formula: see text] is the projected baseline length, and [Formula: see text] is the wavelength at which the null is observed. Since [Formula: see text] changes with the Earth’s rotation, [Formula: see text] also changes. If [Formula: see text] is constant with wavelength, [Formula: see text] varies in direct proportion to [Formula: see text]. Any departure from that proportionality indicates that the brightness distribution across the stellar disk varies with wavelength via variations in limb darkening, in the angular size of the disk, or both.

In this paper, we introduce the use of variations of [Formula: see text] with [Formula: see text] as a means of probing the structure of stellar atmospheres. Using the equivalent uniform disk diameter [Formula: see text], given by [Formula: see text], as a convenient and intuitive parameterization of [Formula: see text], we demonstrate this concept by using model atmospheres to calculate the brightness distribution for [Formula: see text] Ophiuchi and to predict [Formula: see text], and then comparing the predictions to coherently averaged data from observations taken with the NPOI.