SUMMARY

Glycogen storage disease type IIIa (GSD IIIa) is an autosomal recessive disease caused by deficiency of glycogen debranching enzyme (GDE) in liver and muscle. The disorder is clinically heterogeneous and progressive, and there is no effective treatment. Previously, a naturally occurring dog model for this condition was identified in curly-coated retrievers (CCR). The affected dogs carry a frame-shift mutation in the GDE gene and have no detectable GDE activity in liver and muscle. We characterized in detail the disease expression and progression in eight dogs from age 2 to 16 months. Monthly blood biochemistry revealed elevated and gradually increasing serum alanine transaminase (ALT), aspartate transaminase (AST) and alkaline phosphatase (ALP) activities; serum creatine phosphokinase (CPK) activity exceeded normal range after 12 months. Analysis of tissue biopsy specimens at 4, 12 and 16 months revealed abnormally high glycogen contents in liver and muscle of all dogs. Fasting liver glycogen content increased from 4 months to 12 months, but dropped at 16 months possibly caused by extended fibrosis; muscle glycogen content continually increased with age. Light microscopy revealed significant glycogen accumulation in hepatocytes at all ages. Liver histology showed progressive, age-related fibrosis. In muscle, scattered cytoplasmic glycogen deposits were present in most cells at 4 months, but large, lake-like accumulation developed by 12 and 16 months. Disruption of the contractile apparatus and fraying of myofibrils was observed in muscle at 12 and 16 months by electron microscopy. In conclusion, the CCR dogs are an accurate model of GSD IIIa that will improve our understanding of the disease progression and allow opportunities to investigate treatment interventions.

Background

The discourse about mental health problems among migrants and refugees tends to focus on adverse pre-migration experiences; there is less investigation of the environmental conditions in which refugee migrants live, and the contrasts between these situations in different countries. This cross-national study of two samples of Somali refugees living in London (UK) and Minneapolis, Minnesota, (USA) helps to fill a gap in the literature, and is unusual in being able to compare information collected in the same way in two cities in different countries.

Methods

There were two parts to the study, focus groups to gather in-depth qualitative data and a survey of health status and quantifiable demographic and material factors. Three of the focus groups involved nineteen Somali professionals and five groups included twenty-eight lay Somalis who were living in London and Minneapolis. The quantitative survey was done with 189 Somali respondents, also living in London and Minneapolis. We used the MINI International Neuropsychiatric Interview (MINI) to assess ICD-10 and DSM-IV mental disorders.

Results

The overall qualitative and quantitative results suggested that challenges to masculinity, thwarted aspirations, devalued refugee identity, unemployment, legal uncertainties and longer duration of stay in the host country account for poor psychological well-being and psychiatric disorders among this group.

Conclusion

The use of a mixed-methods approach in this international study was essential since the quantitative and qualitative data provide different layers and depth of meaning and complement each other to provide a fuller picture of complex and multi-faceted life situations of refugees and asylum seekers. The comparison between the UK and US suggests that greater flexibility of access to labour markets for this refugee group might help to promote opportunities for better integration and mental well-being.

Umbilical discharge in infancy is often attributed to infection or an umbilical granuloma. It is important to investigate if such a discharge is due to an underlying congenital abnormality because corrective surgical intervention may then be required. We present the first case of an infant with a persistent umbilical discharge from an omphalomesenteric duct cyst. The discharge was associated with periumbilical dermatitis. The dermatitis was most likely due to irritation of the skin by gastric acid produced by the ectopic gastric mucosa contained in the omphalomesenteric duct cyst. Both discharge and dermatitis resolved after surgical removal of the cyst.

Background

Somali migrants fleeing the civil war in their country face punishing journeys, the loss of homes, possessions, and bereavement. On arrival in the host country they encounter poverty, hostility, and residential instability which may also undermine their mental health.

Methods

An in-depth and semi-structured interview was used to gather detailed accommodation histories for a five year period from 142 Somali migrants recruited in community venues and primary care. Post-codes were verified and geo-mapped to calculate characteristics of residential location including deprivation indices, the number of moves and the distances between residential moves. We asked about the reasons for changing accommodation, perceived discrimination, asylum status, traumatic experiences, social support, employment and demographic factors. These factors were assessed alongside characteristics of residential mobility as correlates of ICD-10 psychiatric disorders.

Results

Those who were forced to move homes were more likely to have an ICD-10 psychiatric disorder (OR = 2.64, 1.16-5.98, p = 0.02) compared with those moving through their own choice. A lower risk of psychiatric disorders was found for people with larger friendship networks (0.35, 0.14-0.84, p = 0.02), for those with more confiding emotional support (0.42, 0.18-1.0, p = 0.05), and for those who had not moved during the study period (OR = 0.21, 0.07-0.62, p = 0.01).

Conclusions

Forced residential mobility is a risk factor for psychiatric disorder; social support may contribute to resilience against psychiatric disorders associated with residential mobility.

Background

Randomized controlled trials (RCTs) are the gold standard for trials assessing the effects of therapeutic interventions; therefore it is important to understand how they are conducted. Our objectives were to provide an overview of a representative sample of pediatric RCTs published in 2007 and assess the validity of their results.

Methods

We searched Cochrane Central Register of Controlled Trials using a pediatric filter and randomly selected 300 RCTs published in 2007. We extracted data on trial characteristics; outcomes; methodological quality; reporting; and registration and protocol characteristics. Trial registration and protocol availability were determined for each study based on the publication, an Internet search and an author survey.

Results

Most studies (83%) were efficacy trials, 40% evaluated drugs, and 30% were placebo-controlled. Primary outcomes were specified in 41%; 43% reported on adverse events. At least one statistically significant outcome was reported in 77% of trials; 63% favored the treatment group. Trial registration was declared in 12% of publications and 23% were found through an Internet search. Risk of bias (ROB) was high in 59% of trials, unclear in 33%, and low in 8%. Registered trials were more likely to have low ROB than non-registered trials (16% vs. 5%; p = 0.008). Effect sizes tended to be larger for trials at high vs. low ROB (0.28, 95% CI 0.21,0.35 vs. 0.16, 95% CI 0.07,0.25). Among survey respondents (50% response rate), the most common reason for trial registration was a publication requirement and for non-registration, a lack of familiarity with the process.

Conclusions

More than half of this random sample of pediatric RCTs published in 2007 was at high ROB and three quarters of trials were not registered. There is an urgent need to improve the design, conduct, and reporting of child health research.

INTRODUCTION

A small, but significant, number of children require long-term nutritional support. The aim of this study was to demonstrate the safety and efficacy of providing a percutaneous endoscopic gastrostomy (PEG) service for children in a district general hospital and to raise awareness of the suitability of the procedure to be performed on paediatric surgery lists in similar hospitals across the UK.

PATIENTS AND METHODS

A multidisciplinary paediatric nutrition team was established and all children accepted for PEG insertion between 1995 and 2007 were entered onto a database prospectively and are included in this study. PEG tubes were inserted by the standard pull-through technique under general anaesthetic.

RESULTS

A total of 172 procedures were performed in 76 children. The median age at first tube insertion was 3 years (range, 0.5–18 years). Length of follow-up ranged from 1 month to 12.6 years. Fifty-eight children (76%) had a neurological abnormality, the commonest being cerebral palsy. All but one procedure were performed successfully, of which 63 (37%) were new insertions, 99 change of tube, 4 changed from surgical gastrostomy and 6 from PEG to button gastrostomy. The median hospital stay was 2 days (range, 2–7 days) for new insertions and 1 day for tube changes. There were 10 (6%) early complications within 30 days, the commonest being peritubal infection (6). The 39 late complications included 16 peritubal infection/granulomata, 9 ‘buried bumpers’, 4 worsening of gastro-oesophageal reflux disease, 2 gastrocolic fistulae, 3 gastrocutaneous fistulae and 4 tubal migration. There was no mortality.

CONCLUSIONS

We have demonstrated that paediatric PEG procedures and continuing management by a supporting team can be successfully and efficiently provided in the district general hospital. It should be possible for the majority of similar hospitals to provide local access and increase the availability of PEG feeding for children.

Objectives:

Individuals living in deprived neighbourhoods have poor health outcomes, including human immunodeficiency virus (HIV) infection mortality. We assessed the association between individual and neighbourhood characteristics, and HIV testing across Canada.

Methods:

We used logistic regression modelling to evaluate this association in 2219 men and 2815 women, aged 18-54 years, in Canada, using data from the National Population Health Survey (1996/7),. Socio-economic characteristics and presence of a sexually transmitted infection (STI) were the individual level characteristics. Small area of residence was classified according to categories of material and social deprivation; these were the ’neighbourhood’ variables in the model.

Results:

Ethnic minority women were less likely to report an HIV test than white women (OR 0.44, 95% CI: 0.23 to 0.86). Women without a regular doctor were significantly less likely to report ever having had an HIV test (OR 0.57, 95% CI: 0.35 to 0.93). Adjusting for individual level characteristics, we found that men and women living in the most materially deprived neighbourhoods were slightly less likely to report HIV testing than those living in the least deprived neighbourhoods (Men - OR 0.61, 95% CI: 0.34 to 1.08; Women - OR 0.62, 95% CI: 0.38 to 1.00).

Discussion:

Thus, living in poor neighbourhoods was associated with poor uptake of an HIV test. These economic disparities should be taken in account while designing future prevention strategies. Ethnic minority women were less likely to go for HIV testing and culturally appropriate messages may be required for prevention in ethnic minorities.

Background

Although sucrose has been accepted as an effective analgesic agent for procedural pain in neonates, previous studies are largely in the NICU population using the procedure of heel lance. This is the first report of the effect of sucrose, pacifier or the combination thereof for the procedural pain of venipuncture in infants in the pediatric emergency department population.

Methods

The study design was a double (sucrose) and single blind (pacifier), placebo-controlled randomized trial – factorial design carried out in a pediatric emergency department. The study population was infants, aged 0 – 6 months. Eighty-four patients were randomly assigned to one of four groups: a) sucrose b) sucrose & pacifier c) control d) control & pacifier. Each child received 2 ml of either 44% sucrose or sterile water, by mouth. The primary outcome measure: FLACC pain scale score change from baseline. Secondary outcome measures: crying time and heart rate change from baseline.

Results

Sucrose did not significantly reduce the FLACC score, crying time or heart rate. However sub-group analysis revealed that sucrose had a much greater effect in the younger groups. Pacifier use reduced FLACC score (not statistically significant), crying times (statistically significant) but not heart rate. Subgroup analysis revealed a mean crying time difference of 76.52 seconds (p < 0.0171) (0–1 month) and 123.9 seconds (p < 0.0029) (1–3 month). For subgroup age > 3 months pacifier did not have any significant effect on crying time. Age adjusted regression analysis revealed that both sucrose and pacifier had significant effects on crying time. Crying time increased with both increasing age and increasing gestational age.

Conclusion

Pacifiers are inexpensive, effective analgesics and are easy to use in the PED for venipuncture in infants aged 0–3 months. The benefits of sucrose alone as an analgesic require further investigation in the older infant, but sucrose does appear to provide additional benefit when used with a pacifier in this age group.

Trial registration

Current Controlled Trials ISRCTN15819627