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1.  Back pain as the presenting symptom of generalised tetanus 
Back pain is a common presenting symptom in emergency departments and primary care across the UK. The extensive differential diagnosis includes mechanical, infective, thoracic, abdominal and vascular causes. This case report describes a patient who presented with lower back pain with a rare diagnosis, which is becoming more common in certain population groups, and emphasises the importance of clinical skills and insuring adequate tetanus prophylaxis.
PMCID: PMC2658177  PMID: 17183029
2.  Regular surveillance for Li-fraumeni syndrome: advice, adherence and perceived benefits 
Familial Cancer  2010;9(4):647-654.
Li Fraumeni Syndrome (LFS) is a hereditary cancer syndrome characterized by a high risk of developing various types of cancer from birth through late adulthood. Clinical benefits of surveillance for LFS are limited. The aim of this study is to investigate which advice for regular surveillance, if any, is given to high risk LFS individuals, adherence to that advice, and any psychological gain or burden derived from surveillance. Fifty-five high risk individuals (proven carriers and those at 50% risk) from families with a p53 germline mutation were invited to participate, of whom 82% completed a self-report questionnaire assessing advice for regular surveillance, compliance, perceived benefits and barriers of screening and LFS-related distress (IES) and worries (CWS). In total, 71% of the high risk family members received advice to undergo regular surveillance for LFS. The majority (78%) reported adherence with the recommended advice. All high risk women aged 25 or older reported having been advised to undergo annual breast cancer surveillance (n = 11), of whom 64% (n = 7) in specific received advice to undergo a mammography. Seventy-eight percent of respondents indicated having received tailored surveillance advice based on family cancer history. The large majority of respondents believed in the value of surveillance to detect tumors at an early stage (90%) and reported that it gave them a sense of control (84%) and security (70%). Despite its limited clinical benefits, the majority of high risk LFS family are advised to undergo, and are adherent to, and report psychological benefit from, regular surveillance programs.
PMCID: PMC2980620  PMID: 20658357
Li-Fraumeni syndrome (LFS); Surveillance; Compliance; Psychological barriers and benefits
3.  The development of attention skills in action video game players 
Neuropsychologia  2009;47(8-9):1780-1789.
Previous research suggests that action video game play improves attentional resources, allowing gamers to better allocate their attention across both space and time. In order to further characterize the plastic changes resulting from playing these video games, we administered the Attentional Network Test (ANT) to action game players and non-playing controls aged between 7 and 22 years. By employing a mixture of cues and flankers, the ANT provides measures of how well attention is allocated to targets as a function of alerting and orienting cues, and to what extent observers are able to filter out the influence of task irrelevant information flanking those targets. The data suggest that action video game players of all ages have enhanced attentional skills that allow them to make faster correct responses to targets, and leaves additional processing resources that spill over to process distractors flanking the targets.
PMCID: PMC2680769  PMID: 19428410
4.  Successful use of albuterol in a patient with central core disease and mitochondrial dysfunction 
Journal of Inherited Metabolic Disease  2010;33(Suppl 3):205-209.
Albuterol, a selective beta-adrenergic agonist, has been used experimentally in combination with exercise therapy in a few inherited neuromuscular disorders to increase muscle strength and muscle volume . We report on a 9-year-old boy with central core disease and mitochondrial dysfunction due to compound heterozygous RYR1 mutations receiving albuterol treatment for 1 year. Throughout the period of albuterol administration, the patient underwent an aerobic exercise regime of training sessions three times a week that lasted 20 min each. No side effects of albuterol use were seen. Significant clinical progress, including self care, sitting up, raising arms above the shoulders, independent feeding, and better speech and writing were observed compared with minimal development of these abilities in the previous years on physiotherapy. Improved forced expiratory volume in 1 s (FEV1) score was detected and increased muscle strength was noted: progress was measured using various functional tests and assessment scales. The only complication observed was a mild progression of the joint contractures, possibly due to an unbalance between the flexor and extensor musculature. In general, in this pilot study in a complex case of metabolic myopathy our patient has shown promising results following albuterol treatment and aerobic exercise therapy.
PMCID: PMC3757256  PMID: 20443062
6.  Development and evaluation of a follow up assessment of preterm infants at 5 years of age 
Archives of Disease in Childhood  2003;88(10):870-875.
Background: Long term follow up shows a high frequency of developmental disturbances in preterm survivors of neonatal intensive care formerly considered non-disabled.
Aims: To develop and validate an assessment tool that can help paediatricians to identify before 6 years of age which survivors have developmental disturbances that may interfere with normal education and normal life.
Methods: A total of 431 very premature infants, mean gestational age 30.2 weeks, mean birth weight 1276 g, were studied at age 5 years. Children with severe handicaps were excluded. The percentage of children with a correctly identified developmental disturbance in the domains cognition, speech and language development, neuromotor development, and behaviour were determined.
Results: The follow up instrument classified 67% as optimal and 33% as at risk or abnormal. Of the children classified as at risk or abnormal, 60% had not been identified at earlier follow up assessments. The combined set of standardised tests identified a further 30% with mild motor, cognitive, or behavioural disturbances. The paediatrician's assessment had a specificity of 88% (95% CI 83–93%), a sensitivity of 48% (95% CI 42–58%), a positive predictive value of 85% (95% CI 78–91%), and a negative predictive value of 55% (95% CI 49–61%).
Conclusions: Even after standardised and thorough assessment, paediatricians may overlook impairments for cognitive, motor, and behavioural development. Long term follow up studies that do not include detailed standardised tests for multiple domains, especially fine motor domain, may underestimate developmental problems.
PMCID: PMC1719302  PMID: 14500304
10.  Immunocompetence of nestling great tits in relation to rearing environment and parentage 
Theoretical models of host–parasite coevolution assume a partially genetic basis to the variability in susceptibility to parasites among hosts, for instance as a result of genetic variation in immune function. However, few empirical data exist for free-living vertebrate hosts to support this presumption. In a cross-fostering experiment with nestling great tits, by comparing nestlings of the same origin we investigated (i) the variance in host resistance against an ectoparasite due to a common genetic origin, (ii) the effect of ectoparasite infestation on cell-mediated immunity and (iii) the variance in cell-mediated immunity due to a common genetic origin. Ectoparasitic hen fleas can impair the growth of nestling great tits and nestling growth was therefore taken as a measure of host susceptibility. A common origin did not account for a significant part of the variation in host susceptibility to fleas. There was no significant overall effect of fleas on nestling growth or cell-mediated immunity, as assessed by a cutaneous hypersensitivity response. A common rearing environment explained a significant part of the variation in cell-mediated immunity among nestlings, mainly through its effect on nestling body mass. The variation in cell-mediated immunity was also related to a common origin. However, the origin-related variation in body mass did not account for the origin-related differences in cell-mediated immunity. The results of the present study thus suggest heritable variation in cell-mediated immunity among nestling great tits.
PMCID: PMC1690459
11.  Food supply and seasonal variation in breeding success: an experiment in the European coot 
We investigated experimentally the seasonal role of food supply in brood survival of the European coot Fulica atra. For two breeding seasons, individual pairs were offered supplemental food the first ten days after their young hatched. Under natural conditions this period was largely responsible for the seasonal variation in brood survival. Our experiment tested three hypotheses: (1) food supply is not involved in breeding success at any date (other factors hypothesis), (2) food supply limits success independently of date (elevation hypothesis), and (3) food supply affects success seasonally and is responsible for the natural seasonal trend in success (date hypothesis). Experimental pairs with supplemental food raised heavier, larger and more chicks than control pairs. Consistent with the date hypothesis, food supplementation abolished seasonal variation in chick survival. Chick growth under supplemental food was in agreement with the elevation hypothesis. This discrepancy was probably due to the limited supply of additional food. We conclude that seasonal variation in offspring production was in essence the result of seasonal variation in food availability.
PMCID: PMC1688263
Timing Of Reproduction Food Supplementation Fulica Atra Offspring Survival Juvenile Growth

Results 1-12 (12)