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Background: Cerebellar atrophy is characterized by loss of cerebellar tissue, with evidence on brain imaging of enlarged interfolial spaces compared to the foliae. Genetic ataxias associated with cerebellar atrophy are a heterogeneous group of disorders. We investigated the prevalence in Canada and the diagnostic yield of whole exome sequencing (WES) for this group of conditions. Methods: Between 2011 and 2017, WES was performed in 91 participants with cerebellar atrophy as part of one of two national research programs, Finding of Rare Genetic Disease Genes (FORGE) or Enhanced Care for Rare Genetic Diseases in Canada (Care4Rare). Results: A genetic diagnosis was established in 58% of cases (53/91). Pathogenic variants were found in 24 known genes, providing a diagnosis for 46/53 participants (87%), and in four novel genes, accounting for 7/53 cases (13%). 38/91 cases (42%) remained unsolved. The most common diagnoses were channelopathies in 12/53 patients (23%) and mitochondrial disorders in 9/53 (17%). Inheritance was autosomal recessive in the majority of cases. Additional clinical findings provided useful clues to some of the diagnoses. Conclusions: This is the first report on the prevalence of genetic ataxias associated with cerebellar atrophy in Canada, and the utility of WES for this group of conditions.
We explored the prevalence and use of constant supportive observations (CSO) in high, medium and low secure in-patient services in a single National Health Service (NHS) mental health trust. From clinical records, we extracted data on the length of time of CSO, the reason for the initiation of CSO and associated adverse incidents for all individuals who were placed on CSO between July 2013 and June 2014.
A small number of individuals accounted for a disproportionately large proportion of CSO hours in each setting. Adverse incident rates were higher on CSO than when not on CSO. There was considerable variation between different settings in terms of CSO use and the reasons for commencing CSO.
The study describes the prevalence and nature of CSO in secure forensic mental health services and the associated organisational costs. The marked variation in CSO use between settings suggests that mental health services continue to face challenges in balancing risk management with minimising restrictive interventions.
Declaration of interest
A.B. and J.L.I. are both directly employed by the NHS trust in which the study was conducted.
A number of laser facilities coming online all over the world promise the capability of high-power laser experiments with shot repetition rates between 1 and 10 Hz. Target availability and technical issues related to the interaction environment could become a bottleneck for the exploitation of such facilities. In this paper, we report on target needs for three different classes of experiments: dynamic compression physics, electron transport and isochoric heating, and laser-driven particle and radiation sources. We also review some of the most challenging issues in target fabrication and high repetition rate operation. Finally, we discuss current target supply strategies and future perspectives to establish a sustainable target provision infrastructure for advanced laser facilities.
Dilation and abnormal tortuosity of retinal vessels are the hallmarks of severe retinopathy of prematurity (ROP) in premature infants. The stages of ROP are defined by vessel appearance at the interface between the vascular and avascular retinal areas. Deregulated signaling pathways involving hypoxia-inducible factors such as vascular endothelial growth factor (VEGF) are involved in the pathogenesis of ROP. VEGF-antagonists are increasingly being used as ‘off-label medication’ to treat this condition, with some success. We present Baby SM (female), who was born prematurely at 24 weeks gestation in a tertiary neonatal intensive care unit, and with a birth weight of 640 g. On screening at 35 weeks postmenstrual age (PMA), she was noted to have ROP, which became severe by 37 weeks PMA. She received one dose of intravitreal VEGF antagonist (Bevacizumab), resulting in a decrease in vessel tortuosity and dilation. However, repeat imaging at 4 weeks showed a re-emergence of vessel tortuosity. We believe the observed changes demonstrate an inherent retinal microvascular plasticity in premature neonates. With improved survival of extremely premature neonates and the availability of retinal imaging technology, we are now able to observe this plasticity.
To describe our experience and provide guidelines for maximum safe balloon sizes according to age in children undergoing balloon dilatation.
A retrospective review was conducted of children undergoing balloon dilatation for subglottic stenosis in a paediatric tertiary unit between May 2006 and February 2016.
A total of 166 patients underwent balloon dilatation. Mean ( ± standard deviation) patient age was 4.5 ± 3.99 years. The median balloon size was 8 mm, the median balloon inflation pressure was 10 atm, and the mean balloon inflation time was 65.1 ± 18.6 seconds. No significant unexpected events occurred. The Pearson correlation co-efficient for the relationship between patient age and balloon size was 0.85 (p = 0.001), suggesting a strongly positive correlation.
This study demonstrated that balloon dilatation is a safe procedure for airway stenosis. The results suggest using a balloon diameter that is equal to the outer diameter of the age-appropriate endotracheal tube +1 mm for the larynx and subglottis and +2 mm for the trachea.
Inappropriate treatment of asymptomatic bacteriuria (ASB) in the hospital setting is common. We sought to evaluate the treatment rate of ASB at the 3 hospitals and assess the impact of a hospitalist-focused improvement intervention.
Prospective, interventional trial.
Two community hospitals and a tertiary-care academic center.
Adult patients with a positive urine culture admitted to hospitalist services were included in this study. Exclusions included pregnancy, intensive care unit admission, history of a major urinary procedure, and actively being treated for a urinary tract infection (UTI) at the time of admission or >48 hours prior to urine collection.
An educational intervention using a pocket card was implemented at all sites followed by a pharmacist-based intervention at the academic center. Medical records of the first 50 eligible patients at each site were reviewed at baseline and after each intervention for signs and symptoms of UTI, microbiological results, antimicrobials used, and duration of treatment for positive urine cultures. Diagnosis of ASB was determined through adjudication by 2 hospitalists and 2 infectious diseases physicians.
Treatment rates of ASB decreased (23.5%; P=.001) after the educational intervention. Reductions in treatment rates for ASB differed by site and were greatest in patients without classic signs and symptoms of UTI (34.1%; P<.001) or urinary catheters (31.2%; P<.001). The pharmacist-based intervention was most effective at reducing ASB treatment rates in catheterized patients.
A hospitalist-focused educational intervention significantly reduced ASB treatment rates. The impact varied across sites and by patient characteristics, suggesting that a tailored approach may be useful.
Background: Menkes disease is a rare, X-linked recessive disorder of the ATP7A gene, a copper transporter; resulting in systemic copper deficiency. The deficient function of copper-dependent enzymes manifests clinically with failure to thrive, seizures, hypotonia, coarse hair, connective tissue abnormalities, and neurodegeneration. Cerebral arteries are often elongated, tortuous, and fragile. Methods: This case report was prepared using the patient’s hospital chart, and a review of the literature undertaken using PubMed. Our case was subsequently compared and contrasted to known Menkes’ literature. Results: We present the case of a 2 month old male with Menkes disease who presented with new seizure onset in the setting of a Grade III intraventricular hemorrhage with hydrocephalus. He deteriorated into status epilepticus, and palliative care was instituted. On autopsy, pronounced tortuosity of his cerebral vasculature was noted, as well as a bilaterally cystic brain with an organizing hemorrhage on the ventral surface of the brainstem. Conclusions: Although Menkes disease often presents with seizures, neurologic deterioration, and abnormal cerebral vasculature; the quick demise subsequent to an intraventricular hemorrhage is somewhat unusual and discussed.
Migratory fishes are natural wonders. For many people, the term migratory fish evokes images of salmon audaciously jumping at waterfalls as they return to their own riverine birthplace to spawn after years of growth in the ocean, but freshwater fishes actually show a broad spectrum of migration strategies. Migratory fishes include small species – three-spined sticklebacks that spawn in coastal streams around the northern Pacific and gobies that move from the ocean into tropical island streams by climbing waterfalls (McDowall, 1988) – as well as some of the largest freshwater fishes in the world, such as the Mekong dog-eating catfish and the Chinese paddlefish (Stone, 2007). Aside from migratory habits, these species have few shared characteristics; they encompass numerous evolutionary lineages, enormous differences in life history, and every possible direction and distance of migration. Biologists treat migratory freshwater fishes as a functional group because their life-history strategy revolves around long-distance movement between ecosystems in a perilous quest to take advantage of both high-quality breeding sites and bountiful feeding areas. As humans have physically blocked fish migrations, degraded breeding and feeding grounds and relentlessly harvested migrants for their flesh and roe, many populations have declined or been extirpated. This chapter will provide an overview of fundamental and applied research that is helping to guide efforts to conserve migratory freshwater fishes.
For practical purposes, we define migratory behaviour as the synchronized movement of a substantial proportion of a population between distinct habitats, which is repeated through time within or across generations. Modern definitions of fish migrations typically recognise both the adaptive benefits of migrating and individual variation in executing the general strategy (see McDowall, 1988; Lucas & Baras, 2001). Not every individual must move, the timing may vary somewhat from year to year, and the motive for migrating may include seeking refuge from harsh conditions in addition to breeding and feeding. Nonetheless, in most cases, migration is critical to individual fitness and population persistence because it enables specialised use of different habitats for growth and reproduction. Where their migration routes are blocked or key habitats are lost, migratory fishes often suffer rapid and catastrophic losses.
Human appropriation and degradation of the Earth's freshwater ecosystems (Vörösmarty et al., 2010; Carpenter et al., 2011) have transformed this reliance on multiple habitats into a detriment for many migratory fishes.
Prehospital anaesthesia in the United Kingdom (UK) is provided by Helicopter Emergency Medical Service (HEMS) and British Association for Immediate Care (BASICS), a road-based service. Muscle relaxation in rapid sequence induction (RSI) has been traditionally undertaken with the use of suxamethonium; however, rocuronium at higher doses has comparable intubating conditions with fewer side effects.
The aim of this survey was to establish how many prehospital services in the UK are now using rocuronium as first line in RSI.
An online survey was constructed identifying choice of first-line muscle relaxant for RSI and emailed to lead clinicians for BASICS and HEMS services across the UK. If rocuronium was used, further questions regarding optimal dose, sugammadex, contraindications, and difference in intubating conditions were asked.
A total of 29 full responses (93.5%) were obtained from 31 services contacted. Suxamethonium was used first line by 17 prehospital services (58.6%) and rocuronium by 12 (41.4%). In 11 services (91.7%), a dose of 1 mg/kg of rocuronium was used, and in one service, 1.2 mg/kg (8.3%) was used. No services using rocuronium carried sugammadex. In five services, slower relaxation time was found using rocuronium (41.7%), and in seven services, no difference in intubation conditions were noted (58.3%). Contraindications to rocuronium use included high probability of difficult airway and anaphylaxis.
Use of rocuronium as first-line muscle relaxant in prehospital RSI is increasing. Continued auditing of practice will ascertain which services have adopted change and identify if complications of failed intubation increase as a result.
HartleyEL, AlcockR. Rocuronium Versus Suxamethonium: A Survey of First-line Muscle Relaxant Use in UK Prehospital Rapid Sequence Induction. Prehosp Disaster Med. 2015;30(2):1-3.
Treatment of asymptomatic bacteriuria contributes to antimicrobial overuse in hospitalized patients. Indications for urine culture, treatment, and targets for improvement were evaluated in 153 patients. Drivers of antimicrobial overuse included fever with an alternative source, altered mental status, and leukocytosis, which led 435 excess days of antimicrobial therapy.
Urine cultures are frequently obtained for hospitalized patients. We reviewed documented indications for culture and compared these with professional society guidelines. Lack of documentation and important clinical scenarios (before orthopedic procedures and when the patient has altered mental status without a urinary catheter) are highlighted as areas of use outside of current guidelines.
Oral mucositis is common for patients undergoing chemoradiotherapy for squamous cell carcinoma of the head and neck (SCCHN). Despite the significant detrimental sequelae associated, there is no consensus on the optimum mouth care regimen. This prospective audit aims to record mucositis and dysphagia toxicity and the level of analgesia prescribed when recent products: MuGard™, Caphosol® and Episil® are compared with our standard departmental mouth care regimen.
Patients undergoing concurrent chemoradiotherapy for locally advanced SCCHN at University Hospital Birmingham, UK were prospectively audited weekly for 8 consecutive weeks starting from week 1 of chemoradiotherapy from June 2009 until January 2011. Patients received either standard oral care regimen of aspirin, glycerin and sucralfate, or, MuGard™, Caphosol® or Episil®. Grade of mucositis, dysphagia and analgesia score were prospectively recorded using the common toxicity criteria v3·0.
One hundred and four patients were included. There was no difference in the grade and duration of mucositis (p = 0·82), dysphagia (p = 0·99) or analgesia score (p = 0·61) for either MuGard™, Caphosol® or Episil® compared with standard oral care.
There is no evidence from this audit that Mugard™, Caphosol® or Episil® improves mucositis and dysphagia toxicity or the level of analgesia prescribed compared with our standard departmental mouth care regimen. Randomised trials comparing these approaches are required to detect any meaningful clinical benefit.
The current study examined the use of biographical data to predict errors, tardiness, policy violations, overall job performance, and turnover among nurses. The results of the study indicate that biodata measures are valid selection devices for nurses and effective at predicting nurse errors, tardiness, policy violations, and overall job performance, but the instrument was not an effective predictor of turnover, voluntary or involuntary. Additionally, examination of group differences revealed that White subjects scored significantly higher on the biodata instrument compared to Black subjects but produced group differences considerably smaller than typically found with measures of cognitive ability. Future research directions and implications for practice are discussed.
Airway compromise due to paediatric intubation injuries is well documented; however, intubation injuries may also cause severe voice disorders. We report our experience and review the world literature on the voice effects of traumatic paediatric intubation.
We report five cases of children referred to Great Ormond Street Hospital for Children who suffered traumatic avulsion of the vocal fold at the time of, or secondary to, endotracheal intubation. All children had significant dysphonia and underwent specialist voice therapy.
The mechanisms of injury, risk factors and management of the condition are discussed. Children suffering traumatic intubation require follow up throughout childhood and beyond puberty as their vocal needs and abilities change. At the time of writing, none of the reported patients had yet undergone reconstructive or medialisation surgery. However, regular specialist voice therapy evaluation is recommended for such patients, with consideration of phonosurgical techniques including injection laryngoplasty or thyroplasty.
Vertical transmission of the protozoan parasite, Neospora caninum is highly efficient and can take two forms – endogenous transplacental transmission resulting from activation of the quiescent bradyzoite stage during pregnancy or exogenous transplacental transmission resulting from ingestion of oocysts during pregnancy. Calves born carrying infection derived from either endogenous or exogenous transplacental transmission are capable of infecting their offspring when they start to breed. This review considers firstly the frequency with which exogenous and endogenous transmission occur, secondly the role of the immune response in controlling N. caninum infection and thirdly how the parasite persists in an immune-competent host and is re-activated during pregnancy.
Multiple surgical procedures have been advocated for the management of problematic drooling in neurologically impaired children. Parotid duct ligation is a quick and simple operation conducted via an intra-oral approach and usually performed simultaneously with other procedures. In this study, we aimed to evaluate the effectiveness of parotid duct ligation as a discrete procedure.
All children who underwent bilateral parotid duct ligation as the solitary operative intervention at that time, between February 2003 and September 2006, were included in the study.
Ten children were studied. Surgery was successful in 80 per cent of cases. One patient (10 per cent) had a post-operative wound infection.
Bilateral parotid duct ligation is an effective yet conservative operation for drooling in neurologically impaired children. It requires minimal surgical dissection and has a low morbidity rate. It should be considered as a potential first-line procedure in children who aspirate, and as a further surgical option in anterior droolers or those who continue to drool unacceptably following prior surgical intervention.
We report a rare case of chronic facial pain following sclerotherapy for intraparotid haemolymphangioma, thereby highlighting an important clinical consideration when advising this treatment option as an alternative to surgery in the head and neck.
Case report, with a review of relevant literature.
Sclerotherapy of lymphangiomata is well reported in the literature. Unusually, our young patient with an intraparotid haemolymphangioma experienced severe, chronic pain following intralesional injection of sodium tetradecyl sulphate, which required management by a specialist pain service. We discuss the technique of sclerotherapy for such lesions, and also discuss the potential side effects of two agents commonly used in our centre: OK 432 and sodium tetradecyl sulphate.
Non-surgical treatments of lymphangiomata and venous vascular malformations are not without complication. Both patient and clinician should be aware of this, and of the other potential side effects of sclerotherapy, prior to its use in the head and neck.
Bilateral vocal fold immobility in children is a challenging problem because a balance between good airway and voice quality has to be achieved. Surgery to improve the airway is often postponed or avoided because of fear of losing the voice. In this study our results of laser arytenoidectomy in children are described. This was a retrospective case notes review at a tertiary level paediatric ENT department. The six patients in this case series ranged from nine to 16 years old at the time of laser arytenoidectomy. Post-operative airway and voice quality were assessed. All children in the series had an adequate post-operative airway. Four of these patients had tracheostomies pre-operatively and achieved decannulation. All six patients rated their post-operative voice as better than pre-operatively. This is principally due to increased loudness associated with increased airflow through the larynx, particularly after tracheostomy decannulation. It is recommended that special care should be taken not to disturb the anterior two thirds of the vocal fold during the surgery in order to achieve a good post-operative voice outcome.