MRI Spectrum of Brain Involvement in Sphingosine-1-Phosphate Lyase Insufficiency Syndrome.

SGPL1 encodes sphingosine-1-phosphate lyase, the final enzyme of sphingolipid metabolism. In 2017, a condition featuring steroid-resistant nephrotic syndrome and/or adrenal insufficiency associated with pathogenic SGPL1 variants was reported. In addition to the main features of the disease, patients often exhibit a range of neurologic deficits. In a handful of cases, brain imaging results were described. However, high-quality imaging results and a systematic analysis of brain MR imaging findings associated with the condition are lacking. In this study, MR images from 4 new patients and additional published case reports were reviewed by a pediatric neuroradiologist. Analysis reveals recurring patterns of features in affected patients, including isolated callosal dysgenesis and prominent involvement of the globus pallidus, thalamus, and dentate nucleus, with progressive atrophy and worsening of brain lesions. MR imaging findings of abnormal deep gray nuclei, microcephaly, or callosal dysgenesis in an infant or young child exhibiting other typical clinical features of sphingosine-1-phosphate lyase insufficiency syndrome should trigger prompt genetic testing for SGPL1 mutations.

The association between pediatric injury risks and parenting behaviours.

BACKGROUND: Unintentional injuries are the leading cause of death in children ages 1-18 years. Many of these injuries to young children occur in their own homes. Although research has explored injury risk prevention strategies, historically, much of this research has focused on environmental changes and teaching safety practices. Currently, there appears to be a gap in current research exploring how parenting influences children's risk of injury. METHODS: Mothers (n = 119) of children 5 years and younger were recruited from a paediatric clinic as a part of a larger study and completed measures of parenting challenges, developmentally sensitive parenting, child neglect, parental efficacy, and risk of potential injury situations. Hierarchical logistic regression was used to explore the extent to which developmentally insensitive parenting behaviours put parents at higher risk for behaviours that lead to unintentional injury in children and whether developmentally sensitive parenting behaviours protects children from injury. The association between demographic characteristics and injury risk behaviours was also examined. RESULTS: Parents who reported more frequent insensitive parenting behaviours (i.e., yelling, spanking, and putting child in time out) were more likely to report putting their child in an incorrect car seat or taking their child out of a car seat while the car is still moving. In addition, younger parents were at greater risk of storing cleaners and medications unsafely. CONCLUSION: Results from this study highlight the importance of supporting younger mothers and educating parents on effective parenting strategies when trying to prevent unintentional injury risks.

Concepts, models and measurement of continuity of care in mental health services: A systematic appraisal of the literature.

WHAT IS KNOWN ON THE SUBJECT?: Care continuity is considered to be a cornerstone of modern mental health care. As community mental health services have become increasingly fragmented and complex, the crucial criterion for best quality care has become the degree to which treatment delivered by separate services and professionals is continuous and well coordinated. However, clarification of the key elements of continuity has proved challenging and a consensus has not been reached. Recent research has shown significant levels of variation in the quality of care coordination across England and Wales, with potentially detrimental consequences for individuals. WHAT THIS PAPER ADDS TO EXISTING KNOWLEDGE?: Studies on care continuity identified in this review are grouped into three categories: studies defining concepts of care continuity, studies providing models of continuity and studies describing development of questionnaires about care continuity. There are many similarities and parallels between concepts of continuity described in the studies under review. Therefore, there is potential for developing a consensus on the nature of care continuity as a multidimensional concept. The priority placed upon the patient's experience of care continuity is identified as a major focus in these studies. WHAT ARE THE IMPLICATIONS FOR PRACTICE?: A consensus on the nature of care continuity would benefit both theory and practice in mental health nursing. It would provide a firmer foundation for new research seeking to improve continuity for people using services, and enable mental health nurses working as care coordinators to have a better understanding of the elements of their role that are most effective. ABSTRACT: Introduction The increased complexity of community mental health services, and associated fragmentation of traditional dividing lines between services, has underscored the centrality of care continuity and coordination in modern mental health care. However, clarification of the key features of the care continuity concept has proved difficult and a consensus has not been reached. Aim/Question This review draws together and critically examines latest evidence concerning concepts, models and scales based on a multidimensional understanding of care continuity. Method Databases ASSIA, PubMed, MEDLINE and Cochrane were searched for papers dating from January 2005 to July 2016, of which 21 articles met the inclusion criteria. These were subjected to quality appraisal based on CASP and COSMIN checklists. Studies were grouped into three thematic categories describing concepts, models and scales of care continuity. Results/Discussion Synthesis indicated correspondence between independent, multidimensional models of care continuity, providing greater clarity regarding the essential features of the concept. Association, although not causation, between care continuity factors and health outcomes is supported by current evidence. Implications for practice Clarification of care continuity in mental health services may enable nurses working as care coordinators to develop a better understanding of key elements of their role, and provide guidance for future service development.

Developing tailored positive parenting messages for a clinic-based communication programme.

BACKGROUND: Health care providers fill a central role in the prevention of both child abuse and neglect (CA/N) and unintentional childhood injury. Health communication interventions hold promise for promoting attitudes and behaviours among parents that increase positive parenting practices, which may be linked to decreased rates of intentional and unintentional childhood injuries. This manuscript describes the development of 'RISE Up', an ambulatory clinic-based childhood injury prevention programme that provides tailored, injury prevention print materials to parents of children ages 0-5. METHODS: Fifteen semi-structured key informant interviews were conducted with clinic healthcare providers and staff to develop communication strategies and materials for caregivers. Cognitive response testing was then conducted with 20 caregivers of the priority population to assess all materials. Interviews were recorded, transcribed and analyzed using thematic coding methods. RESULTS: Formative research revealed that health care providers and caregivers were very responsive to messages and materials. Health care providers reported that abuse and neglect were particularly relevant to their patients and noted several benefits to implementing the RISE Up programme in a health care setting. Caregivers generally found messages on reducing the risks of injuries, as well as the graphics displayed in the RISE Up programme to be helpful. CONCLUSIONS: Addressing the common determinants of both intentional and unintentional childhood injury through customized print materials may be a useful component of comprehensive prevention efforts to address childhood injury risk with greater impact. Providers and parents responded favourably to this communication strategy.

Nicotinic receptors in the habenula: importance for memory.

The habenula is an epithalamic structure through which descending connections pass from the telencephalon to the brainstem, putting it in a key location to provide feedback control over the brainstem monoaminergic projections ascending to the telencephalon. Habenular nuclei lesions have been shown to impair memory function. The habenular nuclei have high concentrations of nicotinic receptors. In this study we assessed the role of habenular nicotinic receptors for working memory. Adult female Sprague-Dawley rats were trained on a 16-arm maze to assess spatial working and reference memory. All rats had at least 18 sessions of training and then had bilateral chronic infusion cannulae placed into the lateral habenula nucleus. These cannulae were each connected to a slow delivery osmotic minipump that chronically infused mecamylamine 100 microg/side/day (n=9) or vehicle (aCSF) for controls (n=15) for a period of 4 weeks. Both mecamylamine-infused and control rats were acutely injected (s.c.) with nicotine (0, 0.2 or 0.4 mg/kg) in a repeated measures counterbalanced design twice at each dose during the chronic local infusion period. There was a significant (P<0.025) mecamylaminexnicotine interaction effect on memory performance. Without nicotine injection the chronic habenular mecamylamine infusion caused a significant (P<0.05) increase in total memory errors. The 0.4 mg/kg nicotine dose significantly (P<0.005) reversed the mecamylamine-induced memory impairment, returning performance back to levels seen in rats with control aCSF habenular infusions. The current study determined that nicotinic receptors in the lateral habenular nucleus are important for spatial memory function. Descending projections from the telencephalon through the habenula to brainstem nuclei using nicotinic receptors appear to be a key pathway for memory processing.

How do newly diagnosed hypertensives understand 'risk'? Narratives used in coping with risk.

BACKGROUND: In many clinical settings, there are concerns about communicating risk effectively in the absence of a clear understanding of what risk means to individuals. OBJECTIVES: To explore the ways in which individuals think about risk in the context of a recent diagnosis of hypertension. METHODS: A qualitative interview study of 11 recently diagnosed hypertensive patients recruited from general practice. RESULTS: Participants presented a 'narrative' about their relationship to risk. Two general types of risk narrative were evident: 'denial' narratives and 'acceptance' narratives (though some examples fall along the spectrum in between). The 'deniers' described risk as something they do not think about, or as applying to others but not themselves. The 'acceptors' described risk as an unavoidable part of everyday life. The use of a 'denial' or 'acceptance' narrative appeared to be independent of the level of understanding of evidence-based hypertension medical risks. Some participants who used a denial narrative also described taking a variety of risk-reducing actions in relation to the new diagnosis. For some people the distancing of risk achieved by the narrative seems to be an important way of coping. CONCLUSIONS: Participants described risk by way of a personal narrative, which functioned as a coping position. The coping position adopted did not presuppose either levels of knowledge, or health-related behaviour. In communicating information about risk, practitioners need to be aware of the use of coping narratives; 'denial' does not necessarily imply lack of understanding or unwillingness to take medically appropriate health-related actions.

Differential strength of association of child injury prevention attitudes and beliefs on practices: a case for audience segmentation.

OBJECTIVE: Many injuries to children cannot be prevented without some degree of active behavior on the part of parents. A better understanding of social and cognitive determinants of parents' injury prevention behavior and the identification of potential subgroups for targeted message delivery could advance the effectiveness of educational and behavioral interventions. This study assessed the degree to which parents' injury prevention behavior is associated with theoretical determinants and examined whether this relation differs by age or birth order of child. DESIGN: Cross sectional observational study. SETTING: Three Midwestern pediatric clinics. SUBJECTS: 594 parents of children ages 0-4 attending routine well child visits. MEASURES: Injury prevention attitudes, beliefs, and practices. RESULTS: Overall, only modest relations were observed between injury beliefs and attitudes and injury prevention behaviors. However, these relations differed substantially by child age and birth order, with stronger associations observed for parents of older first born children. Outcome expectations and social norms were more strongly related to injury prevention behavior among parents of preschool children than among parents of infants and toddlers, while attitudes were more predictive for parents of first born children than parents of later born children. CONCLUSIONS: These findings highlight the complexity of relations between theorized determinants and behavior, and suggest the potential utility of using audience segmentation strategies in behavioral interventions addressing injury prevention.

Taking STOX: developing a cross disciplinary methodology for systematic reviews of research on the built environment and the health of the public.

STUDY OBJECTIVE: To develop a cross disciplinary literature search methodology for conducting systematic reviews of all types of research investigating aspects of the built environment and the health of the public. DESIGN: The method was developed following a comprehensive search of literature in the area of housing and injuries, using 30 databases covering many disciplines including medicine, social science, architecture, science, engineering, environment, planning and psychology. The results of the database searches, including the type (or evidence) of research papers identified, were analysed to identify the most productive databases and improve the efficiency of the strategy. The revised strategy for literature searching was then applied to the area of neighbourhoods and mental health, and an analysis of the evidence type of references was carried out. In recognition of the large number and variety of observational studies, an expanded evidence type classification was developed for this purpose. MAIN RESULTS: From an analysis of 722 citations obtained by a housing and injuries search, an overlap of only 9% was found between medical and social science databases and only 1% between medical and built environment databases. A preliminary evidence type classification of those citations that could be assessed (from information in the abstracts and titles) suggested that the majority of intervention studies on housing and injuries are likely to be found in the medical and social science databases. A number of relevant observational studies (10% of all research studies) would have been missed, however, by excluding built environment and grey literature databases. In an area lacking in interventional research (housing/neighbourhoods and mental health) as many as 25% of all research studies would have been missed by ignoring the built environment and grey literature. CONCLUSIONS: When planning a systematic review of all types of evidence in a topic relating to the built environment and the health of the public, a range of bibliographical databases from various disciplines should be considered.

Epidemiology of concussion in collegiate and high school football players.

Despite evolutionary changes in protective equipment, head injury remains common in football. We investigated concussion in football and associated epidemiologic issues such as 1) incidence of injury, 2) common signs and symptoms, and 3) patterns in making return-to-play decisions. We received 242 of 392 surveys (62%) that were sent to high school and collegiate certified athletic trainers at the beginning of three football seasons. Of the 17,549 football players represented, 888 (5.1%) sustained at least one concussion, and 131 (14.7% of the 888) sustained a second injury during the same season. The greatest incidence of concussion was found at the high school (5.6%) and collegiate division III (5.5%) levels, suggesting that there is an association between level of play and the proportion of players injured. Players who sustained one concussion in a season were three times more likely to sustain a second concussion in the same season compared with uninjured players. Contact with artificial turf appears to be associated with a more serious concussion than contact with natural grass. Only 8.9% of all injuries involved loss of consciousness, while 86% involved a headache. Overall, 30.8% of all players sustaining a concussion returned to participation on the same day of injury.

Jockey injuries in the United States.

CONTEXT: In the sport of horse racing, the position of the jockey and speed of the horse predispose the jockey to risk of injury. OBJECTIVE: To estimate rates of medically treated injuries among professional jockeys and identify patterns of injury events. DESIGN: Cross-sectional survey from data compiled by an insurance broker. Information on the cause of injury, location on the track, and body part injured was evaluated. SETTING: Official races at US professional racing facilities (n = 114) from January 1, 1993, through December 31, 1996. PARTICIPANTS: A licensed jockey population of approximately 2700 persons. MAIN OUTCOME MEASURES: Annual injury incidence rates per 1000 jockey-years, as well as injury type, cause, and location on the track. RESULTS: A total of 6545 injury events occurred during official races between 1993 and 1996 (606 per 1000 jockey-years). Nearly 1 in 5 injuries (18.8%) was to the jockey's head or neck. Other frequent sites included the leg (15.5%), foot/ankle (10.7%), back (10.7%), arm/hand (11.0%), and shoulder (9.6%). The most frequent location where injuries occurred was entering, within, or leaving the starting gate (35.1%), including 29.5% of head injuries, 39.8% of arm/hand injuries, and 52.0% of injuries to the leg/foot. Most head injuries resulted from being thrown from the horse (41.8%) or struck by the horse's head (23.2%). Being thrown from the horse was the cause of 55.1% of back and 49.6% of chest injuries. CONCLUSIONS: Our data suggest that jockeys have a high injury rate. Efforts are needed to reduce the number of potential injury events on the track and to improve protective equipment so events do not lead to injury.

The North Carolina High School Athletic Injury Study: design and methodology.

PURPOSE: Organized interscholastic athletics are an integral part of the educational program at almost every school level. With this growing popularity of sports and their inclusion in more public school programs, it becomes increasingly apparent that additional consideration must be given to the injury problem associated with sport. The North Carolina High School Athletic Injury Study (NCHSAIS) was undertaken to identify patterns of injury among male and female athletes in North Carolina high schools participating in any of 12 sports. Specific aims are to measure the incidence, severity and etiology of injuries; to determine the relationship of demographic factors and protective equipment, exposure to play, and school characteristics to injuries; to study the relationship of coaches' training and experience to injury occurrence; and to compare the incidence and severity of injury among female and male athletes in the same or comparable sports. METHODS: A two-stage cluster sample of 100 high schools in North Carolina was selected for this 4-yr prospective study. RESULTS: Participation by the initial sample or a random replacement was achieved for 91 of the 100 schools. Nonresponse occurred at multiple levels of the sample for this study, and the weekly participation form posed the greatest respondent burden. CONCLUSIONS: The NCHSIAS offers a successful methodology for addressing sports injuries. In this paper we describe the design, methodology, and implementation issues that emerge in conducting a large scale epidemiological study in a population of high school athletes.

Flight paramedic scope of practice: current level and breadth.

This study's objective was to determine the current level and breadth of flight paramedic scope of practice. A six-item survey of lead flight paramedics in 158 air medical programs addressed five issues: 1) Certifications required above state certification; 2) Procedures included in scope of practice; 3) Medications flight paramedics are allowed to administer; 4) Requirements needed to expand scope of practice; and 5) Views on establishing a National Flight Paramedic Certification to alter their scope of practice. Eighty programs out of the 90 respondents (89%) stated that they utilize flight paramedics. Of these 80 programs that use flight paramedics, 76 programs (95%) require certification in ACLS, 65 (81%) in PALS, and 50 (63%) in BCLS. Paramedics are allowed to perform cricothyroidotomy in 68 programs (85%), pericardiocentesis in 24 (30%), and tube thoracostomy in 23 (29%). Medications approved for administration include streptokinase in 37 programs (46 %), r-TPA in 48 (60%), and succinylcholine in 50 (63%). In 61 programs (76%), the scope of practice is determined solely by the air medical director. Eighteen respondents (23%) believe that the development of a National Flight Paramedic Certification Program would alter their scope of practice. In conclusion, flight paramedic scope of practice varies enormously. Since most medical directors have the authority to alter flight paramedic scope of practice and few programs believe that a National Flight Paramedic Certification would alter their practice, medical directors should work directly with flight paramedics to expand their scope of practice.

Age limitation on provision of orthopedic therapy and orthognathic surgery.

Canadian orthodontists were surveyed by mail to determine the latest skeletal age at which they would recommend orthopedic therapy and orthognathic surgery and the earliest at which they would recommend orthognathic surgery. For the purposes of this introductory study, orthopedic therapy implied stimulation of physiologic response using appliance force, without specification of appliance type. Response rate from 512 orthodontists was 65% (n = 334), with the response rate by item varying from 92% to 95%. By Greulich and Pyle standards, the latest recommended age for orthopedic therapy was at 97% completion of skeletal growth (females 13.5 years, males 15 years), whereas the earliest recommended age for orthognathic surgery was when skeletal growth is 99% complete (females 14.9 years, males 16.5 years). Surgery would be recommended by 32% of respondents for a patient before the age of 8 years, if deformity is severe. For orthognathic surgery, respondents either perceived no age maximum or recommended 69 years, the maximum age on the questionnaire item. Orthodontists' traits influenced recommendations for timing treatment.

Orthodontists' views of justification for cost of orthognathic surgery.

PURPOSE: This study evaluated whether orthodontists' treatment of patients was influenced by their perception of the justification for the cost of orthognathic surgery. MATERIALS AND METHODS: A survey of 334 Canadian orthodontists was used to determine what factors influenced views of cost justification. RESULTS: Approximately 80%, 49%, and 9% of orthodontists perceived cost of surgery to be justified for severely, moderately, and mildly compromised patients, respectively. Whether the compromise was functional or aesthetic did not particularly affect their views. Least experienced orthodontists were more likely than more experienced orthodontists to perceive cost of surgery as justified for patients with moderate functional compromise (P < .01). Most experienced orthodontists were more likely than less experienced orthodontists to perceive cost of surgery as unjustified for patients with moderate aesthetic compromise (P < .01). Orthodontists who did not believe cost of surgery to be justified for patients with mild or moderate compromise tended to recommend orthognathic surgery less frequently than camouflage orthodontics for borderline surgery patients (P < .05). CONCLUSIONS: The findings suggest that costs may be contained by orthodontists rationing surgery on the basis of severity of facial skeletal malrelationship and perception of justification of cost. Less experienced orthodontists are less likely to contain costs for patients with moderate functional and aesthetic compromise. Most experienced orthodontists are less likely to contain costs for patients with severe functional compromise. Patient satisfaction may be affected by rationing, which affects the treatment approach and thus the outcome.

Orthodontists' perceptions of need for jaw surgery.

Treatment recommendations in borderline orthognathic surgery cases were examined for influence of orthodontists' traits and orthodontist's perceptions of patients', surgeons', and psychologists' traits. A mail questionnaire consisted of 23 case vignettes describing borderline surgical candidates with certain physical, psychological, attitudinal, and support system traits, as well as demographic and attitudinal items. The response rate from 512 licensed Canadian orthodontists was 65%. Seventy-four percent of orthodontists preferred camouflage for themselves. Recommendation of camouflage predominated in 12 of 23 vignettes and surgery in only four, although the cost of surgery was considered justified. Psychological referral was recommended highly for certain patients: those hoping to improve negative life events through positive facial change, those having low self-esteem, and those wanting to opl out of surgery in the middle of orthodontic treatment. Certain patient traits appeared to influence orthodontists' treatment recommendations. The availability, expertise, and receptiveness to case discussion of oral surgeons and psychologists did not influence orthodontists' treatment recommendations.

A population-based study of the association of medical manpower with county trauma death rates in the United States.

OBJECTIVE: To determine the association between measures of medical manpower available to treat trauma patients and county trauma death rates in the United States. The primary hypothesis was that greater availability of medical manpower to treat trauma injury would be associated with lower trauma death rates. SUMMARY BACKGROUND DATA: When viewed from the standpoint of the number of productive years of life lost, trauma has a greater effect on health care and lost productivity in the United States than any disease. Allocation of health care manpower to treat injuries seems logical, but studies have not been done to determine its efficacy. The effect of medical manpower and hospital resource allocation on the outcome of injury in the United States has not been fully explored or adequately evaluated. METHODS: Data on trauma deaths in the United States were obtained from the National Center for Health Statistics. Data on the number of surgeons and emergency medicine physicians were obtained from the American Hospital Association and the American Medical Association. Data on physicians who have participated in the American College of Surgeons (ACS) Advanced Trauma Life Support Course (ATLS) were obtained from the ACS. Membership information for the American Association for Surgery of Trauma (AAST) was obtained from that organization. Demographic data were obtained from the United States Census Bureau. Multivariate stepwise linear regression and cluster analysis were used to model the county trauma death rates in the United States. The Statistical Analysis System (Cary, NC) for statistical analysis was used. RESULTS: Bivariate and multivariate analyses showed that a variety of medical manpower measures and demographic factors were associated with county trauma death rates in the United States. As in other studies, measures of low population density and high levels of poverty were found to be strongly associated with increased trauma death rates. After accounting for these variables, using multivariate analysis and cluster analysis, an increase in the following medical manpower measures were associated with decreased county trauma death rates: number of board-certified general surgeons, number of board-certified emergency medicine physicians, number of AAST members, and number of ATLS-trained physicians. CONCLUSIONS: This study confirms previous work that showed a strong relation among measures of poverty, rural setting, and increased county trauma death rates. It also found that counties with more board-certified surgeons per capita and with more surgeons with an increased interest (AAST membership) or increased training (ATLS) in trauma care have lower per-capita trauma death rates.(ABSTRACT TRUNCATED AT 400 WORDS)

The economy as a factor in motor vehicle fatalities, suicides, and homicides.

The effect of the economy as reflected by employment and unemployment rates on motor vehicle fatalities, suicides, and homicides is examined using several national databases. First, regression models are fit to these fatality data-overall as well as for a variety of age-race-gender subgroups. Then time series models-autoregressive integrated moving average (ARIMA) and structural time series analysis-were fit to the data, both with and without the economic indicators, to examine the relative ability of the models to forecast subsequent fatalities. No evidence was found using any of the modeling techniques that knowledge of yearly values of rates of employment, unemployment, and nonlabor force leads to improved forecasts of the level of motor vehicle fatalities, suicides, or homicides in the total U.S. population or within various subpopulations of interest.

Evolutionary origins of neuropeptides, hormones, and receptors: possible applications to immunology.

Immune function requires intercellular communication. The vocabulary includes messenger molecules closely linked to the immune system as well as more widely acting messengers such as hormones and neuroactive substances. To try to bring these together, we have used an evolutionary approach. Materials that resemble hormonal peptides and neuropeptides, previously thought to be restricted to multicellular animals, are present in protozoa, bacteria, and higher plants. There is also evidence for substances in microbes that bind hormones and other messengers, which resemble receptors of vertebrates. Therefore, we suggest that the molecules of intercellular communication probably arose much earlier in evolution than the endocrine, nervous, and immune systems. This insight provides new understanding of messenger systems in vertebrates, as applied to the immune system, as well as new insights into possible disease mechanisms, including those that involve autoimmunity.