Home screening for bacteriuria in children with spina bifida and clean intermittent catheterization

Background

Recurrent benign 6^th nerve palsy in the paediatric age group is uncommon, but has been described following viral and bacterial infections. It has also been temporally associated with immunization, but has not been previously described following two different live attenuated vaccines.

Case presentation

A case is presented of a 12 month old Caucasian boy with recurrent benign 6^th nerve palsy following measles-mumps-rubella and varicella vaccines, given on separate occasions with complete recovery following each episode. No alternate underlying etiology was identified despite extensive investigations and review.

Conclusions

The majority of benign 6th nerve palsies do not have a sinister cause and have an excellent prognosis, with recovery expected in most cases. The exact pathophysiology is unknown, although hypotheses including autoimmune mechanisms and direct viral invasion could explain the pathophysiology behind immunization related nerve palsies. It is important to rule out other aetiologies with thorough history, physical examination and investigations. There is limited information in the literature regarding the safety of a repeat dose of a live vaccine in this setting. Future immunizations should be considered on a case-by-case basis.     

Whole exome sequencing combined with linkage analysis identifies a novel 3?bp deletion in NR5A1

Disorders of sex development (DSDs) encompass a broad spectrum of conditions affecting the development of the gonads and genitalia. The underlying causes for DSDs include gain or loss of function variants in genes responsible for gonad development or steroidogenesis. Most patients with DSD have an unknown genetic etiology and cannot be given an accurate diagnosis. We used whole exome capture and massively parallel sequencing to analyse a large family with 46,XY DSD and 46,XX premature ovarian insufficiency. In addition, we used a recently developed method for linkage analysis using genotypes extracted from the MPS data. This approach identified a unique linkage peak on chromosome 9 and a novel, 3 bp, in-frame deletion in exon six of NR5A1 (steroidogenic factor-1 or SF1) in all affected individuals. We confirmed that the variant disrupts the SF1 protein and its ability to bind and regulate downstream genes. NR5A1 has key roles at multiple points in gonad development and steroidogenic pathways. The variant described here affects the function of SF1 in early testis development and later ovarian function, ultimately leading to the 46,XY DSD and 46,XX premature ovarian insufficiency phenotypes, respectively. This study shows that even at low coverage, whole exome sequencing, when combined with linkage analysis, can be a powerful tool to identify rapidly the disease-causing variant in large pedigrees.     

Chocolate frogs do not increase completion of parent survey: Randomised study

Four months into a year‐long, national survey assessing parents' experiences of a child's diagnosis of autism spectrum disorder, our response fraction was only 23%. We aimed to determine whether including a chocolate incentive in the postal survey would increase the response fraction. Families enrolled between 15 March and 25 May 2012 were randomised to receive a chocolate frog versus no chocolate frog. Both groups received a written reminder and replacement survey 2 weeks after the survey was posted and up to two telephone reminders thereafter. We analysed the effect of the incentive using χ² tests for the categorical response variable and t‐tests for the continuous reminder and length of response variables at the end of (i) randomisation and (ii) the study (1 November 2012). A total of 137 families were randomised in the 6‐week period. Parents who received an incentive were more likely to return a completed survey in the 6 weeks than those who did not (21% vs. 6%, P = 0.009). This effect faded by the end of the study (53% vs. 42%, P = 0.4). There were no differences between groups at either follow‐up in the number of reminders that parents received or the number of days it took parents to return the survey. Including a chocolate‐based incentive does not significantly increase response rate in a postal survey over and above standard reminder techniques like posting follow‐up survey packs or phoning families.     

Dental attendance patterns in renal transplant recipients

OBJECTIVES: Renal transplant recipients (RTR) represent a large and growing population of individuals on potent immunosuppressant therapy who are at significantly greater risk of developing lip and oral mucosal disease, including lip cancer. The aims of this study were to determine the proportion of RTR receiving regular dental treatment, the dental services they used, and the relationship between the prevalence of lip and intraoral lesions and dental attendance.
DESIGN: The lip and oral mucosa of 159 RTR and 160 controls were examined. Subjects were asked questions about frequency of dental attendance and which service they used.
RESULTS: 57.9% RTR attended a dentist regularly compared with 51.3% controls. Among the RTR who attended a dentist regularly, 54.3% visited their general dental practitioner, and 45.6% attended a dental hospital for treatment. This was significantly different from controls where 92.7% of regular attenders used their general dental practitioner (P<0.001). Although the prevalence of oral lesions in RTR (54.7%) was more than twice as many as controls (19.4%). no significant difference was observed between RTR regular dental attenders and non-attenders.
CONCLUSIONS: This study indicates a clear need for oral health care and screening to be focused on RTR.