Bus passenger injury prevention: Learning from onboard incidents.

OBJECTIVE: Bus travel is relatively safe: however there remains a lack of understanding of passenger injury incidents onboard buses. The objective of this study was to understand more about onboard passenger incidents to help inform injury mitigation. METHODS: The UK national STATS19 data and Transport for London bus incident data (IRIS) were used to determine the size of the problem in Greater London. Other data including onboard incident reports from two bus operators and CCTV footage of 70 incidents were used to understand passenger injury in more depth and identify common themes and challenges. RESULTS: The STATS19 and IRIS analysis showed that there was a difference between nationally reported bus incidents compared to locally reported bus incidents. Non-collision incidents are prevalent in the data suggesting there is a large problem to tackle. The CCTV and bus incident data identified braking to be the single largest problem in onboard bus passenger injury incidents. Inconsistent reporting of passenger incidents and injury descriptions make it difficult to identify injury patterns and trends. Areas on the bus appear to contribute to higher injury incidents namely those seats facing and closest to the wheelchair area. Other challenges relating to expected passenger and driver behaviors were noted where blame for the incident and outcome can be attributed to both parties. CONCLUSIONS: This combined analysis of incident reports and CCTV footage has enabled a better understanding of the events leading to on-board passenger injury incidents. Preventing harsh braking would appear to be the most effective way of reducing passenger injuries. Additionally improved data collection would assist both transport authorities and bus operators to identify and monitor the effect of bus safety improvements.

Autonomous Vehicles and Vulnerable Road-Users-Important Considerations and Requirements Based on Crash Data from Two Countries.

(1) Background: Passenger vehicles equipped with advanced driver-assistance system (ADAS) functionalities are becoming more prevalent within vehicle fleets. However, the full effects of offering such systems, which may allow for drivers to become less than 100% engaged with the task of driving, may have detrimental impacts on other road-users, particularly vulnerable road-users, for a variety of reasons. (2) Crash data were analysed in two countries (Great Britain and Australia) to examine some challenging traffic scenarios that are prevalent in both countries and represent scenarios in which future connected and autonomous vehicles may be challenged in terms of safe manoeuvring. (3) Road intersections are currently very common locations for vulnerable road-user accidents; traffic flows and road-user behaviours at intersections can be unpredictable, with many vehicles behaving inconsistently (e.g., red-light running and failure to stop or give way), and many vulnerable road-users taking unforeseen risks. (4) Conclusions: The challenges of unpredictable vulnerable road-user behaviour at intersections (including road-users violating traffic or safe-crossing signals, or taking other risks) combined with the lack of knowledge of CAV responses to intersection rules, could be problematic. This could be further compounded by changes to nonverbal communication that currently exist between road-users, which could become more challenging once CAVs become more widespread.

Prehospital Emergency Provider's Knowledge of and Comfort With Pediatric and Special Needs Cases: A Cross-Sectional Study in Los Angeles County.

The current study assesses the relationship between continuing education (CE) with a focus on pediatrics and children with special heath care needs and how CE influences the knowledge and comfort levels of prehospital providers who treat these cases. Data are survey responses provided by paramedic and emergency medical technician (EMT) level providers (N = 575) in Los Angeles County. Regression models assessed the relationship between pediatric-focused continuing education and EMTs' knowledge of and comfort with pediatric cases, adjusting for relevant covariates. EMTs' participation in continuing education focusing on pediatrics and special health care needs was significantly associated with an increase in perceived comfort and knowledge. Among EMTs who did not receive continuing education focused on either pediatrics or special health care needs, the most frequently reported barrier to education was a perceived lack of availability. The impact of continuing education on perceived comfort and knowledge was more pronounced than the effect of prior experience, especially considering the limited prevalence of provider exposure to pediatric and childhood special health care needs cases compared to adult cases. Expanding educational opportunities is a promising approach to increasing the comfort and knowledge of EMTs who transport and care for pediatric cases.

Investigation of accidents involving powered two wheelers and bicycles - A European in-depth study.

INTRODUCTION: The number of road fatalities have been falling throughout the European Union (EU) over the past 20 years and most Member States have achieved an overall reduction. Research has mainly focused on protecting car occupants, with car occupant fatalities reducing significantly. However, recently there has been a plateauing in fatalities amongst 'Vulnerable Road Users' (VRUs), and in 2016 accidents involving VRUs accounted for nearly half of all EU road deaths. METHOD: The SaferWheels study collected in-depth data on 500 accidents involving Powered Two-Wheelers (PTWs) and bicycles across six European countries. A standard in-depth accident investigation methodology was used by each team. The Driver Reliability and Error Analysis Method (DREAM) was used to systematically classify accident causation factors. RESULTS: The most common causal factors related to errors in observation by the PTW/bicycle rider or the driver of the other vehicle, typically called 'looked but failed to see' accidents. Common scenarios involved the other vehicle turning or crossing in front of the PTW/bicycle. A quarter of serious or fatal injuries to PTW riders occurred in accidents where the rider lost control with no other vehicle involvement. CONCLUSIONS: Highly detailed data have been collected for 500 accidents involving PTWs or bicycles in the EU. These data can be further analyzed by researchers on a case-study basis to gain detailed insights on such accidents. Preliminary analysis suggests that 'looked but failed to see' remains a common cause, and in many cases the actions of the other vehicle were the critical factor, though PTW rider speed or inexperience played a role in some cases. Practical Applications: The collected data can be analyzed to better understand the characteristics and causes of accidents involving PTWs and bicycles in the EU. The results can be used to develop policies aimed at reducing road deaths and injuries to VRUs.

Societal costs of primary progressive multiple sclerosis in Australia and the economic impact of a hypothetical disease-modifying treatment that could delay disease progression.

AIMS: Primary progressive multiple sclerosis (PPMS) has a progressive course of disability with continuous neurological worsening. We investigated societal costs of PPMS in Australia and the economic impact of increasing the independence of people with PPMS through delaying disease progression. METHODS: This prevalence-based retrospective cost-of-illness analysis used observational data from publicly available secondary data sources and literature findings. Direct and indirect costs of PPMS were considered. A replica estimated population was created using the National Centre for Social and Economic Modelling (NATSEM) microsimulation model of the Australian tax and transfer system (STINMOD+). Using a budget impact analysis approach, we modelled the effect on PPMS costs of an effective hypothetical disease-modifying treatment (DMT) that delays disease progression by a year from mild to moderate and a further year from moderate to severe PPMS. RESULTS: An estimated 31,650 Australians have multiple sclerosis (MS) including 4,430 with PPMS. The proportion with PPMS was estimated to increase with age and disease severity. Overall 25% of males with MS, and 10% of females, were estimated to have PPMS. Societal cost of PPMS in Australia in 2018 was estimated at AU$418.1 million. Indirect costs contributed 67.5% of total costs, attributable to reduced workforce participation and need for informal care. The modelled DMT was estimated to create savings of AU$14.9 million (3.6%). Fewer people had moderate and severe PPMS resulting in major cost savings, partially offset by increased costs of treatment, care and support for a relative increase in the number of people with mild PPMS and their increased productivity losses. LIMITATIONS: Publicly available data may be incomplete. The potential cost of the DMT was not considered. CONCLUSIONS: The economic burden of PPMS was estimated at AU$418 million in 2018. An effective DMT that delayed progression from disease severity states by one year could provide significant cost savings.

Why are powered two wheeler riders still fatally injured in road junction crashes? - A causation analysis.

INTRODUCTION: Powered Two Wheeler (PTW) crashes continue to be a road safety concern with a plateauing of the number of associated fatalities. METHOD: Forty one UK fatal or serious injury crashes involving a PTW and another vehicle at a junction were examined. Crash causation was analysed using the Driver Reliability and Error Analysis Method (DREAMv3.2). Crashes were split into two groups: Group A, where the other vehicle was travelling in the opposite direction to the PTW and commenced a right turn across the PTW's path; and Group B where the other vehicle turned right out of a side road (or entrance) across the PTW's path. RESULTS: Overall, the factor that led directly to the crash (phenotype) was most commonly 'too high speed' or 'too late action' for the motorcyclist and 'too early action' for the other driver. Missed or late observations were contributory factors for both PTW riders and other vehicle drivers. Some differences between groups were observed with the PTW riders in Group B more likely to have 'insufficient skills' and the other vehicle drivers in Group A more likely to have 'attention allocation' as a causation factor. For both groups the crashes occurred because the other vehicle failed to give way to the PTW with causation chains that suggest 'looked but failed to see' is still an issue in this type of crash. The excessive speed of the PTW contributed to some crashes. CONCLUSIONS: This analysis suggests that drivers failing to give way to PTW riders at junctions is still a problem. This may relate to the 'looked but did not see' phenomenon. Causation differences were observed between the examined groups. Practical considerations: The DREAM methodology is an effective tool in analysing crash data from police collision investigation reports. Different countermeasures may be necessary to prevent different types of junction crashes.

The societal burden of haemophilia A. I - A snapshot of haemophilia A in Australia and beyond.

INTRODUCTION: Few studies, both in Australia and overseas, have examined the social impacts of living with haemophilia A (HA) or the economic costs associated with the disorder. The purpose of this paper is to examine the epidemiology and societal burden of people with HA (PwHA) in Australia, with a particular focus on men with this disorder. METHODS: The epidemiology and societal burden of HA in Australia, with a particular focus on men with this disorder, were assessed, using data available in the Australian and international literature and publicly available data. RESULTS: The mean annual prevalence of HA is approximately 1-2 per 10 000 males. Prophylactic treatment is used in one-quarter (25.1%) of people with moderate HA, and 82.2% of people with severe HA. Within the latter group, 16.1% have inhibitors for Factor VIII, predisposing them to worse morbidity, mortality and quality of life when compared to the non-inhibitor population. Joint pain and joint disease occur commonly in PwHA, with up to 70% of adults with HA experiencing joint problems. HA is associated with poor physical health, and PwHA miss school and work due to bleeding-related events. CONCLUSION: HA is associated with substantial economic burden; with large differences in costs reported between countries. Overall, HA imposes a significant burden of disease on PwHA, their families and the community at large.

The societal burden of haemophilia A. II - The cost of moderate and severe haemophilia A in Australia.

INTRODUCTION: Although the costs for people with haemophilia A (PwHA) in Europe and the United States have been well characterized, to date, there are no cost estimates for PwHA in Australia. The purpose of this study was to estimate direct and indirect costs of moderate and severe haemophilia A (HA) in Australia under current treatment practices. METHODS: The number of Australian males with moderate or severe HA was projected from Australian Bleeding Disorders Registry (ABDR) data. We estimated the prevalence in 2018 of adults with moderate HA to be 159 people, severe to be 416; and 68 and 283, respectively, in the paediatric (aged < 18 years) population. We used a 'bottom-up prevalence based cost of illness approach' to estimate costs; that is, we estimated the per capita cost for different groups of PwHA; for example, by age and disease severity, and these per capita costs were scaled up to the estimated population with HA. Costs were estimated based on publicly available secondary data and literature review. RESULTS: The treatment-related costs, direct and indirect costs, of moderate to severe HA are significant, totalling over AUD$111M in 2018, equating to a yearly per patient cost of approximately AUD$120 000 (equivalent to ~EUR€74 000 or ~USD$85 000). CONCLUSION: Although HA affects a relatively small number of people within the Australian population, it is associated with high aggregate costs and imposes a high economic burden.

The societal burden of haemophilia A. III - The potential impact of emicizumab on costs of haemophilia A in Australia.

INTRODUCTION: Emicizumab is a humanized monoclonal modified IgG4 antibody with bispecific antibody structure bridging Factor IXa and Factor X. Emicizumab has demonstrated efficacy and safety in adults, adolescents and paediatrics with HA, with or without inhibitors to Factor VIII (FVIII). There is currently no evidence that reports on the potential impact of the introduction of emicizumab on the societal costs of haemophilia A (HA). The purpose of this study was to explore the cost impact associated with the introduction of emicizumab on the current societal costs of people with HA (PwHA) in Australia. METHODS: We conducted an analysis of the impact of emicizumab on societal costs, based on changes in the direct and indirect costs incurred by PwHA. Potential impacts of emicizumab on outcomes in PwHA were modelled based on HAVEN 1, HAVEN 2 and HAVEN 3 studies. We assumed that eligible PwHA commenced use of emicizumab on 1 January 2018. The impact of emicizumab on costs of HA in Australia males was then estimated for the 12-month period to 31 December 2018. RESULTS: Overall, uptake of emicizumab in its first year of use reduces annual costs associated with moderate/severe HA by AUD$69.197M (62.3%). This reflects 64.2% reduction in the cost of FVIII blood products and 92% reduction in cost of bypassing agents. CONCLUSION: The cost of emicizumab is likely to offset some or all of the projected reductions in treatment costs. However, we also found 30.7% reduction in non-treatment direct costs (AUD$3.771M) and 19.1% reduction in indirect costs (AUD$2.732M).

Liver Glycogen Phosphorylase Deficiency Leads to Profibrogenic Phenotype in a Murine Model of Glycogen Storage Disease Type VI.

Mutations in the liver glycogen phosphorylase (Pygl) gene are associated with the diagnosis of glycogen storage disease type VI (GSD-VI). To understand the pathogenesis of GSD-VI, we generated a mouse model with Pygl deficiency (Pygl -/-). Pygl -/- mice exhibit hepatomegaly, excessive hepatic glycogen accumulation, and low hepatic free glucose along with lower fasting blood glucose levels and elevated blood ketone bodies. Hepatic glycogen accumulation in Pygl -/- mice increases with age. Masson's trichrome and picrosirius red staining revealed minimal to mild collagen deposition in periportal, subcapsular, and/or perisinusoidal areas in the livers of old Pygl -/- mice (>40 weeks). Consistently, immunohistochemical analysis showed the number of cells positive for alpha smooth muscle actin (α-SMA), a marker of activated hepatic stellate cells, was increased in the livers of old Pygl -/- mice compared with those of age-matched wild-type (WT) mice. Furthermore, old Pygl -/- mice had inflammatory infiltrates associated with hepatic vessels in their livers along with up-regulated hepatic messenger RNA levels of C-C chemokine ligand 5 (Ccl5/Rantes) and monocyte chemoattractant protein 1 (Mcp-1), indicating inflammation, while age-matched WT mice did not. Serum levels of aspartate aminotransferase and alanine aminotransferase were elevated in old Pygl -/- mice, indicating liver damage. Conclusion: Pygl deficiency results in progressive accumulation of hepatic glycogen with age and liver damage, inflammation, and collagen deposition, which can increase the risk of liver fibrosis. Collectively, the Pygl-deficient mouse recapitulates clinical features in patients with GSD-VI and provides a model to elucidate the mechanisms underlying hepatic complications associated with defective glycogen metabolism.

Diagnosis and management of glycogen storage diseases type VI and IX: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).

PURPOSE: Glycogen storage disease (GSD) types VI and IX are rare diseases of variable clinical severity affecting primarily the liver. GSD VI is caused by deficient activity of hepatic glycogen phosphorylase, an enzyme encoded by the PYGL gene. GSD IX is caused by deficient activity of phosphorylase kinase (PhK), the enzyme subunits of which are encoded by various genes: ɑ (PHKA1, PHKA2), ß (PHKB), É£ (PHKG1, PHKG2), and δ (CALM1, CALM2, CALM3). Glycogen storage disease types VI and IX have a wide spectrum of clinical manifestations and often cannot be distinguished from each other, or from other liver GSDs, on clinical presentation alone. Individuals with GSDs VI and IX can present with hepatomegaly with elevated serum transaminases, ketotic hypoglycemia, hyperlipidemia, and poor growth. This guideline for the management of GSDs VI and IX was developed as an educational resource for health-care providers to facilitate prompt and accurate diagnosis and appropriate management of patients. METHODS: A national group of experts in various aspects of GSDs VI and IX met to review the limited evidence base from the scientific literature and provided their expert opinions. Consensus was developed in each area of diagnosis, treatment, and management. Evidence bases for these rare disorders are largely based on expert opinion, particularly when targeted therapeutics that have to clear the US Food and Drug Administration (FDA) remain unavailable. RESULTS: This management guideline specifically addresses evaluation and diagnosis across multiple organ systems involved in GSDs VI and IX. Conditions to consider in a differential diagnosis stemming from presenting features and diagnostic algorithms are discussed. Aspects of diagnostic evaluation and nutritional and medical management, including care coordination, genetic counseling, and prenatal diagnosis are addressed. CONCLUSION: A guideline that will facilitate the accurate diagnosis and optimal management of patients with GSDs VI and IX was developed. This guideline will help health-care providers recognize patients with GSDs VI and IX, expedite diagnosis, and minimize adverse sequelae from delayed diagnosis and inappropriate management. It will also help identify gaps in scientific knowledge that exist today and suggest future studies.

Long-term safety and efficacy of AAV gene therapy in the canine model of glycogen storage disease type Ia.

BACKGROUND: Viral mediated gene therapy has progressed after overcoming early failures, and gene therapy has now been approved for several conditions in Europe and the USA. Glycogen storage disease (GSD) type Ia, caused by a deficiency of glucose-6-phosphatase-α, has been viewed as an outstanding candidate for gene therapy. This follow-up report describes the long-term outcome for the naturally occurring GSD-Ia dogs treated with rAAV-GPE-hG6PC-mediated gene therapy. METHODS: A total of seven dogs were treated with rAAV-GPE-hG6PC-mediated gene therapy. The first four dogs were treated at birth, and three dogs were treated between 2 and 6 months of age to assess the efficacy and safety in animals with mature livers. Blood and urine samples, radiographic studies, histological evaluation, and biodistribution were assessed. RESULTS: Gene therapy improved survival in the GSD-Ia dogs. With treatment, the biochemical studies normalized for the duration of the study (up to 7 years). None of the rAAV-GPE-hG6PC-treated dogs had focal hepatic lesions or renal abnormalities. Dogs treated at birth required a second dose of rAAV after 2-4 months; gene therapy after hepatic maturation resulted in improved efficacy after a single dose. CONCLUSION: rAAV-GPE-hG6PC treatment in GSD-Ia dogs was found to be safe and efficacious. GSD-Ia is an attractive target for human gene therapy since it is a monogenic disorder with limited tissue involvement. Blood glucose and lactate monitoring can be used to assess effectiveness and as a biomarker of success. GSD-Ia can also serve as a model for other hepatic monogenic disorders.

Burden of injury of serious road injuries in six EU countries.

BACKGROUND: Information about the burden of (non-fatal) road traffic injury is very useful to further improve road safety policy. Previous studies calculated the burden of injury in individual countries. This paper estimates and compares the burden of non-fatal serious road traffic injuries in six EU countries/regions: Austria, Belgium, England, The Netherlands, the Rhône region in France and Spain. METHODS: It is a cross-sectional study based on hospital discharge databases. POPULATION: of study are patients hospitalized with MAIS3+ due to road traffic injuries. The burden of injury (expressed in years lived with disability (YLD)) is calculated applying a method that is developed within the INTEGRIS study. The method assigns estimated disability information to the casualties using the EUROCOST injury classification. RESULTS: The average burden per MAIS3+ casualty varies between 2.4 YLD and 3.2 YLD per casualty. About 90% of the total burden of injury of MAIS3+ casualties is due to lifelong consequences that are experienced by 19% to 33% of the MAIS3+ casualties. Head injuries, spinal cord injuries and injuries to the lower extremities are responsible for more than 90% of the total burden of MAIS3+ road traffic injuries. Results per transport mode differ between the countries. Differences between countries are mainly due to differences in age distribution and in the distribution over EUROCOST injury groups of the casualties. CONCLUSION: The analyses presented in this paper can support further improvement of road safety policy. Countermeasures could for example be focused at reducing skull and brain injuries, spinal cord injuries and injuries to the lower extremities, as these injuries are responsible for more than 90% of the total burden of injury of MAIS3+ casualties.

Tight metabolic control plus ACE inhibitor therapy improves GSD I nephropathy.

The onset of microalbuminuria (MA) heralds the onset of glomerulopathy in patients with glycogen storage disease (GSD) type I. Unlike tubulopathy, which responds to improved metabolic control, glomerulopathy in GSD I is considered refractory to medical intervention, and it is thought to inexorably progress to overt proteinuria and renal failure. Recent reports of reduced microalbuminuria following strict adherence to therapy counter this view. In contrast to type Ia, little is known regarding the prevalence of kidney disease in GSD Ib, 0, III, VI, and IX. Subjects were evaluated with 24-h urine collections between 2005 and 2014 as part of a longitudinal study of the natural history of GSD. ACE inhibitor therapy (AIT) was commenced after documentation of microalbuminuria. Elevated urine albumin excretion was detected in 23 of 195 GSD Ia patients (11.7%) and six of 45 GSD Ib (13.3%). The median age of onset of microalbuminuria in GSD Ia was 24 years (range 9-56); in GSD Ib it was 25 years (range 20-38). Of 14 with GSD Ia who complied with dietary and AIT during the study period, microalbuminuria decreased in 11, in whom metabolic control improved. All 135 patients with the ketotic forms of GSD (0, III, VI and IX) consistently had normal microalbumin excretion. Strict adherence to dietary therapy and maintenance of optimal metabolic control is necessary to halt the progression of GSD Ia glomerulopathy in patients treated with AIT. With optimal care, protein excretion can be reduced and even normalize.

Changing the balance of social care for older people: simulating scenarios under demographic ageing in New Zealand.

The demographic ageing of New Zealand society, as elsewhere in the developed world, has dramatically increased the proportion of older people (aged 65 years and over) in the population. This has major policy implications for the future organisation of social care. Our objective was to test the effects on social care use, first, of putative changes in the overall disability profile of older people, and second, of alterations to the balance of their care, i.e. whether it was community-based or residential. In order to undertake these experiments, we developed a microsimulation model of the later life course using individual-level data from two official national survey series on health and disability, respectively, to generate a synthetic version which replicated original data and parameter settings. A baseline projection under current settings from 2001 to 2021 showed moderate increases in disability and associated social care use. Artificially decreasing disability levels, below the baseline projection, only moderately reduced the use of community care (both informal and formal). Scenarios implemented by rebalancing towards informal care use moderately reduced formal care use. However, only moderate compensatory increases in community-based care were required to markedly decrease the transition to residential care. The disability impact of demographic ageing may not have a major negative effect on system resources in developed countries like New Zealand. As well as healthy ageing, changing the balance of social care may alleviate the impact of increasing demand due to an expanding population of older people.

Rebalancing health service use for older people: simulating policy-relevant scenarios under demographic ageing.

AIMS: The demographic ageing of New Zealand society has greatly increased the proportion of older people (aged 65 years and over), with major policy implications. We tested the effects on health service use of alterations to morbidity profile and the balance of care. METHODS: We developed a microsimulation model using data from an official national health survey series to generate a synthetic replicate for scenario testing. RESULTS: Projections on current settings from 2001 to 2021 showed increases in morbidity-long-term illness (2%)-and in health service use-doctor visits (21%), public hospital admissions (16%). Scenarios with decreasing morbidity levels showed moderate reductions in health service use. By contrast, rebalancing towards the use of practice nurses showed a large decrease in public hospital admissions for people aged 85 years and over. CONCLUSION: Demographic ageing may not have a major negative effect on system resources in New Zealand and other developed countries. Rebalancing between modalities of care may soften the impact of increasing health service use required by a larger older population.

Safety and Efficacy of Chronic Extended Release Cornstarch Therapy for Glycogen Storage Disease Type I.

BACKGROUND: Glycogen storage disease type I (GSD I) causes severe hypoglycemia during periods of fasting since both glycogenolysis and gluconeogenesis are impaired. Primary treatment in North America consists of cornstarch therapy every 3-4 h. Waxy maize extended release cornstarch was introduced for maintaining overnight glucose concentrations, but no studies have assessed long-term safety and efficacy of the product. OBJECTIVE: To demonstrate the safety and efficacy of modified cornstarch in GSD I. DESIGN: An open-label overnight trial of extended release cornstarch was performed. Subjects with a successful trial (optimal metabolic control 2 or more hours longer than with traditional cornstarch) were given the option of continuing into the chronic observational phase. Subjects were assessed biochemically at baseline and after 12 months. RESULTS: Of the 106 subjects (93 GSD Ia/13 GSD Ib), efficacy was demonstrated in 82 patients (88%) with GSD Ia and 10 patients (77%) with GSD Ib. The success rate for extending fasting was 95% for females and 78% for males. Of the patients who entered the longitudinal phase, long-term data are available for 44 subjects. Mean duration of fasting on traditional cornstarch prior to study for the cohort was 4.1 and 7.8 h on the extended release cornstarch (P < 0.001). All laboratory markers of metabolic control have remained stable in the chronically treated patients. CONCLUSION: Extended release cornstarch appears to improve the quality of life of patients with GSD I without sacrificing metabolic control. Avoiding the overnight dose of cornstarch should enhance safety in this population.

High Incidence of Serologic Markers of Inflammatory Bowel Disease in Asymptomatic Patients with Glycogen Storage Disease Type Ia.

Most patients with glycogen storage disease (GSD) type Ib show features related to inflammatory bowel disease (IBD). The development of IBD seems to be associated with the defect of neutrophil function in GSD Ib. Patients with GSD Ia were not recognized to have similar gastrointestinal complaints until recently and are not associated with a neutrophil defect. Fifty consecutive GSD Ia inpatients over the age of 2 years without a diagnosis of IBD were screened using serologic and genetic markers via the Prometheus IBD sgi Diagnostic test. Eleven patients were tested positive for IBD (22%), with five fitting the pattern for Crohn's disease, five for ulcerative colitis, and one with nonspecific IBD. Only 2 out of the 11 patients had any gastrointestinal complaints. No pattern could be distinguished from individual inflammatory markers, genetics, inflammation antibodies, age, complications, or metabolic control. Of note, 9 out of 11 patients testing positive were female. Patients with GSD Ia were found to have a higher rate of serologically indicated IBD when compared with the general population. While these subjects will need to be followed to determine if these serologic markers correlate with clinical disease, this study supports that IBD may be more common in the GSD Ia population. Further studies are warranted to explain the relationship between IBD and GSD I since it may provide clues regarding the pathogenesis of IBD development in the general population.

Disordered Eating and Body Esteem Among Individuals with Glycogen Storage Disease.

Glycogen storage disease (GSD) is an inherited disorder that requires a complex medical regimen to maintain appropriate metabolic control. Previous research has suggested the disease is associated with decreased quality of life, and clinical experience suggests that patients are at risk for disordered eating behaviors that may significantly compromise their health. The current study assessed eating attitudes, eating disorder symptoms, and body image among 64 patients with GSD ranging from 7-52 years old (M = 18.5 years old). About half the participants were male (n = 33, 51.6%). Most participants were diagnosed with GSD Type I (n = 52, 81.3%). Quantitative and qualitative analyses were utilized. Results indicated that 14.8% of children and 11.1% of adolescents/adults with GSD met the clinical cutoff for dysfunctional attitudes toward eating, suggesting high likelihood for presence of an eating disorder. However, traditional eating disorder symptoms (e.g., binging, purging, fasting, etc.) were less prevalent in the GSD sample compared to population norms (t = -6.45, p < 0.001). Body esteem was generally lower for both children and adolescents/adults with GSD compared to population norms. These results were consistent with interview responses indicating that GSD patients experience negative feedback from peers regarding their bodies, especially during childhood and adolescence. However, they reported growing acceptance of their bodies with age and reported less negative attitudes and behaviors. Assessing mental health, including symptoms of disordered eating and low body esteem, among individuals with GSD should be an important component of clinical care.