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Background: Sotos syndrome is a genetic condition caused by NSD1 alterations, characterized by overgrowth, macrocephaly, dysmorphic features, and learning disability. Approximately half of children with Sotos syndrome develop seizures. We investigated the spectrum of seizure phenotypes in these patients. Methods: Patients were recruited from clinics and referral from support groups. Those withclinical or genetic diagnosis of Sotos syndrome and seizures were included. Phenotyping data was collected via structured clinical interview and medical chart review. Results: 25 patients with typical Sotos syndrome features were included. Of 14 tested patients, 64% (n=9) had NSD1 alterations. Most had developmental impairment (80%, n=20) and neuropsychiatric comorbidities (68%, n=17). Seizure onset was variable (2 months to 12 years). Febrile and absence seizures were the most frequent types (64%, n=16). Afebrile generalized tonicclonic (40%, n=10) and atonic (24%, n=6) seizures followed. Most patients (60%, n=15) had multiple seizure types. The majority (72%, n=18) was controlled on a single antiepileptic, or none; 4% (n=1) remained refractory to antiepileptics. Conclusions: The seizure phenotype in Sotos syndrome most commonly involves febrile convulsions or absence seizures. Afebrile tonic-clonic or atonic seizures may also occur. Seizures are typically well-controlled with antiepileptics. The rate of developmental impairment and neuropsychiatric comorbidities is high.
Reductions in insulin sensitivity in periparturient dairy cows develop as a means to support lactation; however, excessive mobilization of fatty acids (FA) increases the risk for peripartal metabolic disorders. Our objectives were to investigate the effect of prepartum body condition score (BCS) on systemic glucose and insulin tolerance, and to compare direct and indirect measurements of insulin sensitivity in peripartal lean and overweight dairy cows. Fourteen multiparous Holstein cows were allocated into two groups according to their BCS at day −28 prepartum: lean (n = 7; BCS ≤ 3.0) or overweight; (n = 7; BCS ≥ 4.0). Liver biopsies were performed on day −27, −14 and 4, relative to expected parturition. Intravenous insulin or glucose tolerances tests were performed following each liver biopsy. Relative to lean cows, overweight cows exhibited lower dry matter intake, lost more BCS and displayed increased plasma FA and β-hydroxybutyrate concentrations and elevated liver lipid content during peripartum. Glucose clearance rate was lower for all cows postpartum. Prepartum BCS had minimal effects on insulin and glucose tolerance; however, the ability of the cow to restore blood glucose levels following an insulin challenge was suppressed by increased BCS. Glucose-dependent parameters of insulin and glucose tolerance were not correlated with surrogate indices of insulin sensitivity. We conclude that prepartum BCS had minimal effect on systemic insulin sensitivity following parturition. The observed inconsistency between surrogate indices of insulin sensitivity and direct measurements of insulin and glucose tolerance adds support to growing concerns regarding their usefulness as tools to estimate systemic insulin action in periparturient cows.
Introduction: One in nine (11.7%) people in Saskatchewan identifies as First Nations. In Canada, First Nations people experience a higher burden of cardiovascular disease when compared to the general population, but it is unknown whether they have different outcomes in out of hospital cardiac arrest (OHCA). Methods: We reviewed pre-hospital and inpatient records of patients sustaining an OHCA between January 1st, 2015 and December 31st, 2017. The population consisted of patients aged 18 years or older with OHCA of presumed cardiac origin occurring in the catchment area of Saskatoon's EMS service. Variables of interest included, age, gender, First Nations status (as identified by treaty number), EMS response times, bystander CPR, and shockable rhythm. Outcomes of interest included return of spontaneous circulation (ROSC), survival to hospital admission, and survival to hospital discharge. Results: In all, 372 patients sustained OHCA, of which 27 were identified as First Nations. First Nations patients with OHCA tended to be significantly younger (mean age 46 years vs. 65 years, p < 0.0001) and had shorter EMS response times (median times 5.3 minutes vs. 6.2 minutes, p = 0.01). There were no differences between First Nations and non-First Nations patients in terms of incidence of shockable rhythms (24% vs. 26%, p = 0.80), ROSC (42% vs. 41%, p = 0.87), survival to admission (27% vs 33%, p = 0.53), and survival to hospital discharge (15% vs. 12%, p = 0.54). Conclusion: In Saskatoon, First Nations patients sustaining OHCA appear to have similar survival rates when compared with non-First Nations patients, suggesting similar baseline care. Interestingly, First Nations patients sustaining OHCA were significantly younger than their non-First Nations counterparts. This may reflect a higher burden of cardiovascular disease, suggesting a need improved prevention strategies.
Introduction: In 2016, the Emergency Department (ED) Return Visit Quality Program (RVQP) was developed to promote a culture of quality in Ontario EDs, by mandating large-volume EDs to audit charts of patients who had a return visit leading to hospital admission (RV). This program provides an opportunity to identify possible adverse events (AEs) and quality issues, which can then be addressed to improve patient care. Methods: The RVQP requires EDs to audit a set number of 72-hour RVs for potential AEs/quality issues, as well as all 7-day RVs for one of three key paired sentinel diagnoses (acute myocardial infarction, subarachnoid hemorrhage, and pediatric sepsis). Submitted audits and their AEs/quality issues were analyzed by a team of emergency physicians with quality improvement (QI) expertise, and qualitative metrics were derived. Using the general inductive method, we conducted a qualitative analysis with Health Quality Ontario (HQO), and HQO completed an independent analysis of the submitted narrative reports. Our objective is to report on the qualitative and quantitative metrics of the program, and to explore emerging themes from the AEs/quality issues identified. Results: There were 36,304 72-hour RVs flagged, which represent 0.99% of all 3,672,708 ED visits in the province of Ontario for the 86 EDs participating in the first year of the program. Overall, 2,584 audits were conducted. For the audits involving all-cause 72-hour RVs, 571 (24%) of cases had AEs/quality issues identified. Of the 219 audits involving sentinel diagnoses, 107 (49%) audits identified AEs/quality issues. The qualitative analysis revealed 11 themes, which were classified into three groups : issues related to patient characteristics or actions (elder care, patient risk profile, left without being seen); issues related to actions or processes of the ED team (physician cognitive lapses, handover/communication, high risk medications, documentation, radiology, vital signs); and healthcare system issues (imaging/test availability, discharge planning). Over one hundred local QI projects were completed or planned as a result of the audits performed. Conclusion: The RVQP promotes a culture of quality by highlighting potential AEs and quality themes that can then be targeted to increase patient safety and quality of care in Ontario EDs. Numerous QI projects were undertaken in the first year of the program, and future efforts will monitor the completion and success of these. The program can be easily adapted in other jurisdictions.
With increasing emphasis in the meat sector on better and more consistent quality, carcass leanness and conformation is now an important issue for sheep breeders. In 1999, only 47% of all carcasses in the UK met the target specifications for weight, fat and conformation (MLC, 2000), highlighting the potential for improvement. In the current stratified crossbreeding system, crossbred wether lambs are a by-product of the production of dam line ewes for the lowland sector. If their carcass quality is sufficient, they can give a valuable boost to the economics of the breeding programme. Genetic improvement of carcass quality in crossing sire breeds would benefit the crossbred wethers, as well as filter through to the terminal sire cross lambs produced by the crossbred ewes. This work aims to assess the influence of selection index and live conformation score of crossing sires (in this case Bluefaced Leicesters) on growth and carcass quality traits of their crossbred progeny, as a first step towards designing a genetic improvement programme for crossing sire sheep.
Individuals with chronic respiratory conditions may be at increased risk for pertussis. We conducted a retrospective administrative claims analysis to examine the incidence and economic burden of diagnosed pertussis among adolescents and adults in the USA with chronic obstructive pulmonary disease (COPD) or asthma. Patients aged ⩾11 years with diagnosed pertussis and pre-existing COPD (n = 343) or asthma (n = 1041) were matched 1:1 to patients with diagnosed pertussis but without COPD or asthma. Differences in all-cause costs (‘excess’ costs) during the 45-day and 3-month and 6-month periods before and after the pertussis index date were calculated; adjusted excess costs were estimated via multivariate regressions. The incidence of diagnosed pertussis was higher among patients with COPD or asthma than among matched patients. Compared with matched patients, patients with pertussis and pre-existing COPD or asthma accrued greater all-cause adjusted costs across study periods ($3694 and $1193 more, respectively, in the 45-day period; $4173 and $1301 more in the 3-month period; and $6154 and $1639 more in the 6-month period; all P < 0·0001). Patients with pre-existing COPD or asthma experience an increased economic burden after diagnosed pertussis and may especially benefit from targeted tetanus, diphtheria, and acellular pertussis vaccination strategies.
Introduction: Routine auditing of charts of patients with an emergency department (ED) return visit (RV) resulting in hospital admission can uncover quality and safety gaps in care. This feedback can be helpful to clinicians, administrators, and leaders working to improve clinical outcomes, increase patient satisfaction, and promote high-value care. Health Quality Ontario (HQO) has been tasked by Ontario’s Ministry of Health and Long-Term Care (MOHLTC) to manage the newly created ED RV Quality Program (RVQP), which mandates EDs participating in the Pay-for-Results (P4R) program to audit a minimum of 25-50 RVs/year. The goal of the first-ever ED-specific province-wide Quality Improvement (QI) initiative of this kind is to promote a culture of QI that will lead to improved patient care. Methods: Participating hospitals receive quarterly confidential reports from Access to Care (ATC) that show their and other hospitals’ rates of RVs, as well as identifying information for patients meeting RV inclusion criteria at their ED (within 72 hrs of index visit, or within 7 days with specific diagnoses). HQO has partnered with QI experts and ED physician-leaders to develop various guidance materials. These materials have been disseminated through various media. Hospitals are conducting audits to identify underlying quality issues, take steps to address the underlying causes, and submit reports to HQO. A taskforce will then analyze clinical observations, summarize key findings and lessons learned, and share improvements at a provincial level through an annual report. Results: Since its launch in April 2016, 73 P4R and 16 voluntarily enrolled non-P4R hospitals (which collectively receive approximately 90% of ED visits in the province) are participating in the RVQP. ED leaders have engaged their hospital’s leadership to leverage interest and resources to improve patient care in the ED. To date, hospitals have conducted thousands of audits and have identified quality and safety gaps to address, which will be analyzed in February 2017 for reporting shortly thereafter. These will inform QI endeavours locally and provincially, and be the largest source of such data ever created in Ontario. Conclusion: The ED RVQP aims to create a culture of continuous QI in the Ontario health care system, which provides care to over 13.8 million people. Other jurisdictions can replicate this model to promote high-quality care.
Introduction: Analyzing the charts of patients who have a return visit to an emergency department (ED) requiring hospital admission (termed ‘RV’) is an efficient way to identify adverse events (AEs). Investigating these AEs can inform efforts to improve the quality of care provided. The ED RV Quality Program (RVQP) is a new initiative supported by Ontario’s Ministry of Health and Long-Term Care and managed by Health Quality Ontario. It aims to promote a culture of continuous quality improvement through routine audit/investigation of RVs. Methods: The provincial program is mandatory for high-volume EDs and requires auditing of some 72-hour RVs and all 7-day RVs involving ‘sentinel diagnoses’ (subarachnoid hemorrhage [SAH], acute myocardial infarction [AMI], or pediatric sepsis [PS]). A standardized audit template is followed that includes assessment of the type/severity and underlying causes of AEs, and potential actions for improvement. Results: 73 high-volume EDs and 16 smaller EDs (collectively receiving 90% of all ED visits in Ontario) are participating in the program. Nine months’ data have been released to date, comprising 33,956 RVs (1.05% of 3,235,751 ED visits). Of these, 233 RVs (0.69%) were for a sentinel diagnosis (SAH=11, AMI=191, PS=31). The most common presenting complaint on the index visit was abdominal pain (18%). The most common discharge diagnosis following RV admission was acute appendicitis (3.8%). Conclusion: The ED RVQP aims to improve the quality of care provided in Ontario’s EDs by requiring hospitals to conduct audits of RVs and plan actions for improvement when quality gaps are identified. Participating hospitals have completed hundreds of audits to date.
Laboratory tasks to delineate anxiety disorder features are used to refine classification and inform our understanding of etiological mechanisms. The present study examines laboratory measures of response inhibition, specifically the inhibition of a pre-potent motor response, in clinical anxiety. Data on associations between anxiety and response inhibition remain inconsistent, perhaps because of dissociable effects of clinical anxiety and experimentally manipulated state anxiety. Few studies directly assess the independent and interacting effects of these two anxiety types (state v. disorder) on response inhibition. The current study accomplished this goal, by manipulating state anxiety in healthy and clinically anxious individuals while they complete a response inhibition task.
The study employs the threat-of-shock paradigm, one of the best-established manipulations for robustly increasing state anxiety. Participants included 82 adults (41 healthy; 41 patients with an anxiety disorder). A go/nogo task with highly frequent go trials was administered during alternating periods of safety and shock threat. Signal detection theory was used to quantify response bias and signal-detection sensitivity.
There were independent effects of anxiety and clinical anxiety on response inhibition. In both groups, heightened anxiety facilitated response inhibition, leading to reduced nogo commission errors. Compared with the healthy group, clinical anxiety was associated with excessive response inhibition and increased go omission errors in both the safe and threat conditions.
Response inhibition and its impact on go omission errors appear to be a promising behavioral marker of clinical anxiety. These results have implications for a dimensional view of clinical anxiety.
To determine the impact of total household decolonization with intranasal mupirocin and chlorhexidine gluconate body wash on recurrent methicillin-resistant Staphylococcus aureus (MRSA) infection among subjects with MRSA skin and soft-tissue infection.
Three-arm nonmasked randomized controlled trial.
Five academic medical centers in Southeastern Pennsylvania.
Adults and children presenting to ambulatory care settings with community-onset MRSA skin and soft-tissue infection (ie, index cases) and their household members.
Enrolled households were randomized to 1 of 3 intervention groups: (1) education on routine hygiene measures, (2) education plus decolonization without reminders (intranasal mupirocin ointment twice daily for 7 days and chlorhexidine gluconate on the first and last day), or (3) education plus decolonization with reminders, where subjects received daily telephone call or text message reminders.
MAIN OUTCOME MEASURES
Owing to small numbers of recurrent infections, this analysis focused on time to clearance of colonization in the index case.
Of 223 households, 73 were randomized to education-only, 76 to decolonization without reminders, 74 to decolonization with reminders. There was no significant difference in time to clearance of colonization between the education-only and decolonization groups (log-rank P=.768). In secondary analyses, compliance with decolonization was associated with decreased time to clearance (P=.018).
Total household decolonization did not result in decreased time to clearance of MRSA colonization among adults and children with MRSA skin and soft-tissue infection. However, subjects who were compliant with the protocol had more rapid clearance
We describe a versatile infrared camera/spectrograph, IRIS, designed and constructed at the Anglo-Australian Observatory for use on the Anglo-Australian Telescope. A variety of optical configurations can be selected under remote control to provide several direct image scales and a few low-resolution spectroscopic formats. Two cross-dispersed transmission echelles are of novel design, as is the use of a modified Bowen-Burch system to provide a fast f/ratio in the widest-field option. The drive electronics includes a choice of readout schemes for versatility, and continuous display when the array is not taking data, to facilitate field acquisition and focusing.
The linearity of the detector has been studied in detail. Although outwardly good, slight nonlinearities prevent removal of fixed-pattern noise from the data without application of a cubic linearising function.
Specific control and data-reduction software has been written. We describe also a scanning mode developed for spectroscopic imaging.
A radiochemical 71Ga−71 Ge experiment to determine the integral flux of neutrinos from the sun has been constructed at the Baksan Neutrino Observatory in the USSR. Measurements have begun with 30 tonnes of gallium. The experiment is being expanded with the addition of another 30 tonnes. The motivation, experimental procedures, and present status of this experiment are presented.
The concept of a mixing efficiency is widely used to relate the amount of irreversible diabatic mixing in a stratified flow to the amount of energy available to support mixing. This common measure of mixing in a flow is based on the change in the background potential energy, which is the minimum gravitational potential energy of the fluid that can be achieved by an adiabatic rearrangement of the instantaneous density field. However, this paper highlights examples of mixing that is primarily ‘buoyancy-driven’ (i.e. energy is released to the flow predominantly from a source of available potential energy) to demonstrate that the mixing efficiency depends not only on the specific characteristics of the turbulence in the region of the flow that is mixing, but also on the density profile in regions remote from where mixing physically occurs. We show that this behaviour is due to the irreversible and direct conversion of available potential energy into background potential energy in those remote regions (a mechanism not previously described). This process (here termed ‘relabelling’) occurs without requiring either a local flow or local mixing, or any other process that affects the internal energy of that fluid. Relabelling is caused by initially available potential energy, associated with identifiable parcels of fluid, becoming dynamically inaccessible to the flow due to mixing elsewhere. These results have wider relevance to characterising mixing in stratified turbulent flows, including those involving an external supply of kinetic energy.
To identify risk factors for recurrent methicillin-resistant Staphylococcus aureus (MRSA) colonization.
Prospective cohort study conducted from January 1, 2010, through December 31, 2012.
Five adult and pediatric academic medical centers.
Subjects (ie, index cases) who presented with acute community-onset MRSA skin and soft-tissue infection.
Index cases and all household members performed self-sampling for MRSA colonization every 2 weeks for 6 months. Clearance of colonization was defined as 2 consecutive sampling periods with negative surveillance cultures. Recurrent colonization was defined as any positive MRSA surveillance culture after clearance. Index cases with recurrent MRSA colonization were compared with those without recurrence on the basis of antibiotic exposure, household demographic characteristics, and presence of MRSA colonization in household members.
The study cohort comprised 195 index cases; recurrent MRSA colonization occurred in 85 (43.6%). Median time to recurrence was 53 days (interquartile range, 36–84 days). Treatment with clindamycin was associated with lower risk of recurrence (odds ratio, 0.52; 95% CI, 0.29–0.93). Higher percentage of household members younger than 18 was associated with increased risk of recurrence (odds ratio, 1.01; 95% CI, 1.00–1.02). The association between MRSA colonization in household members and recurrent colonization in index cases did not reach statistical significance in primary analyses.
A large proportion of patients initially presenting with MRSA skin and soft-tissue infection will have recurrent colonization after clearance. The reduced rate of recurrent colonization associated with clindamycin may indicate a unique role for this antibiotic in the treatment of such infection.
Infect. Control Hosp. Epidemiol. 2015;36(7):786–793
Previous studies on the relationship between blood pressure (BP) and psychological morbidity are conflicting. To resolve this confusing picture we examined the hypothesis that there is a non-linear relationship between panic and systolic BP (SBP) and explored the association of generalized anxiety symptoms with SBP.
We used data from the population-based Nord-Trøndelag health study (HUNT) in which all 92 936 individuals aged ⩾20 years residing in one Norwegian county were invited to participate. Panic was assessed using one item from the anxiety subscale of the Hospital Anxiety and Depression Scale (HADS) and generalized anxiety with the remaining six items of this subscale. SBP was the mean of two measurements by an automatic device.
A total of 64 871 respondents had SBP recorded (70%). Both unadjusted (n=61 408) and adjusted analyses provided evidence for a non-linear relationship between panic and SBP, represented by a U-shaped curve with a minimum prevalence of panic at around 140 mmHg. The relationship was strengthened after adjustment for confounders, with the quadratic term significantly associated with panic (p=0.03). Generalized anxiety symptoms were associated only with low SBP.
The U-shaped relationship between SBP and panic provides a unifying explanation for the separate strands of published literature in this area. The results support the hypothesis that high BP and panic disorder could share brainstem autonomic and serotonergic abnormalities. By contrast, generalized anxiety symptoms were more common only at lower BPs, suggesting that any biological link between panic and high BP does not extend to generalized anxiety.
We report a rare case of epistaxis resulting from a ruptured internal carotid artery aneurysm, and present a successful treatment method.
A 72-year-old woman was admitted following recurrent massive epistaxis. There was no history of trauma or surgery. Radiographic imaging demonstrated a large internal carotid artery aneurysm. An attempt was made to occlude the aneurysm with endovascular coils. Despite this, the patient went on to have further epistaxis. Endovascular ablation of the feeding internal carotid artery led to complete resolution.
This case demonstrates that spontaneous epistaxis from intra-cavernous carotid artery aneurysms can be managed using endovascular techniques. To our knowledge, we report the first use of interventional radiological techniques to assess the collateral circulation to the brain and subsequently undertake endovascular ablation of the internal carotid artery.