Characterization of point mutations in the same arginine codon in three unrelated patients with ornithine transcarbamylase deficiency.

Point mutations in the X-linked ornithine transcarbamylase (OTC) gene have been detected at the same Taq I restriction site in 3 of 24 unrelated probands with OTC deficiency. A de novo mutation could be traced in all three families to an individual in a prior generation, confirming independent recurrence. The DNA sequence in the region of the altered Taq I site was determined in the three probands. In two unrelated male probands with neonatal onset of severe OTC deficiency, a guanine (G) to adenine (A) mutation on the sense strand (antisense cytosine [C] to thymine [T]) was found, resulting in glutamine for arginine at amino acid 109 of the mature polypeptide. In the third case, where the proband was a symptomatic female, C to T (sense strand) transition converted residue 109 to a premature stop. These results support the observation that Taq I restriction sites, which contain an internal CG, are particularly susceptible to C to T transition mutation due to deamination of a methylated C in either the sense or antisense strand. The OTC gene seems especially sensitive to C to T transition mutation at arginine codon 109 because either a nonsense mutation or an extremely deleterious missense mutation will result.     

Epstein–Barr virus positive inflammatory pseudo-tumour of the spleen: A case report and literature review

INTRODUCTION

Epstein–Barr virus positive inflammatory pseudo-tumour (IPT) of the spleen is an uncommon, frequently asymptomatic entity, which is typically picked up as an incidental finding on imaging.

PRESENTATION OF CASE

We present a case of EBV positive IPT of the spleen which presented as an incidental finding on CT in a patient with a history of malignancy. Splenectomy was performed.

DISCUSSION

IPTs are benign spindle cell lesions of varying aetiology, which can arise in a variety of tissues, including the spleen. In situ hybridisation showed strong staining for Epstein–Barr virus RNA in our case, in common with many similar lesions described in the literature. The differential diagnosis of such spindle cell tumours is discussed.

CONCLUSION

Radiologically, EBV positive spindle cell tumours are indistinguishable from malignant lesions such as lymphoma and diagnosis is made on histology, usually at splenectomy.     

Minocycline-induced black thyroid gland: Medical curiosity or a marker for papillary cancer?

PURPOSE: Black pigmentation of the thyroid gland is a rare side effect of minocycline. METHODS: Only 26 cases, in addition to the 2 we present, have been reported in the literature. Eleven cases of thyroid carcinoma associated with black thyroid syndrome have been reported. CONCLUSIONS: The incidence of papillary cancer may be increased in thyroid glands stained by the minocycline pigment, which warrants an increased index of suspicion in patients who develop thyroid nodules and have previously been treated with minocycline.     

The prevalence of constipation in patients receiving methadone maintenance treatment for opioid dependency

Constipation is a recognized adverse effect of strong opioids. Unlike patients receiving strong opioids for the relief of cancer pain, patients receiving methadone maintenance therapy for opioid addiction do not always appear to be routinely prescribed laxatives or have their symptoms of constipation assessed. This survey shows that in patients receiving methadone maintenance treatment symptoms of constipation were pronounced in 26% of patients surveyed. Interestingly, 29% of patients reported minimal or no symptoms of constipation. None of the patients at the start of the survey was co‐prescribed laxatives. We believe this study suggests that clinicians involved in prescribing for methadone maintenance programmes should routinely enquire about symptoms of constipation and treat as appropriate. This study also indicates that patients receiving methadone may develop a varying degree of tolerance to the constipating effects of strong opioids—a finding previously illustrated in cancer patients receiving strong opioids.     

Evaluation of an Activity Monitor for the Objective Measurement of Free-Living Physical Activity in Children With Cerebral Palsy

Objective

To explore the use of an activity monitor (AM) to objectively characterize free-living physical activity (F-LPA) in children with mobility impairment resulting from cerebral palsy (CP).

Design

First, a validation study compared outcomes from the AM with video evidence. Second, multiday F-LPA was characterized. Relationships between laboratory measures and F-LPA were explored.

Setting

The evaluation study was conducted in a laboratory environment. F-LPA monitoring was conducted in the participants' free-living environment.

Participants

Convenience sample of ambulatory children (N=15; 11 boys, 4 girls) aged 5 to 17 years with CP undergoing gait analysis.

Interventions

Not applicable.

Main Outcome Measures

Accuracy of the AM for sitting/lying time, upright time, stepping time, and strides taken. Daily volumes of F-LPA of children with CP.

Results

AM outcomes in comparison with video-based analysis were (mean ± SD) 97.4%±2.7%, 101.1%±1.5%, 99.5%±6.6%, 105.6%±15.8%, and 103.8%±10.1% for sitting/lying time, upright time, standing time, stepping time, and stride count, respectively. Participants' daily F-LPA demonstrated considerable variation: mean standing time ± SD, 2.33±.96h/d; mean stepping time ± SD, 1.68±.86h/d; mean steps per day ± SD, 8477±4528; and mean sit-to-stand transitions per day ± SD, 76±49. Laboratory-measured cadence and mobility level were related to F-LPA, but not directly.

Conclusions

The AM demonstrated excellent ability to determine sitting/lying and upright times in children with CP. Stepping time and stride count had lower levels of agreement with video-based analysis but were comparable to findings in previous studies. Crouch gait and toe walking had an adverse effect on outcomes. The F-LPA data provided additional information on children's performance not related to laboratory measures, demonstrating the added value of using this objective measurement technique.     

Negotiation of risk in sexual relationships and reproductive decision-making amongst HIV sero-different couples

The paper focuses on the ways in which medical discourses of HIV transmission risk, personal bodily meanings and reproductive decision-making are re-negotiated within the context of sero-different relationships, in which one partner is known to be HIV-positive. Eighteen in-depth interviews were conducted with 10 individuals in Northern Ireland during 2008–2009. Drawing on an embodied sociological approach, the findings show that physical pleasure, love, commitment, a desire to conceive without medical interventions and a dislike of condoms within regular ongoing relationships, shaped individuals' sense of biological risk. In addition, the subjective logic that a partner had not previously become infected through unprotected sex prior to knowledge of HIV status and the added security of an undetectable viral load significantly impacted upon women's and, especially, men's decisions to have unprotected sex in order to conceive. The findings speak to the importance of reframing public health campaigns and clinical counselling discourses on HIV risk transmission to acknowledge how couples negotiate this risk, alongside pleasure and commitment within ongoing relationships.     

Physical Activity Information Seeking and Advertising Recall

The purposes of this research were to examine the characteristics of those who look for physical activity-related information, where they find it, and to examine what types of physical activity-related advertisements are recalled (i.e., publicly funded or commercial). These purposes were tested using secondary data analyses from two population health surveys. Results from the first survey (n = 1211) showed gender, age, education, and activity-level differences in who is more likely to search for physical activity-related information. Adding the goal of being active into the model made age and activity level no longer significant but gender and education remained significant factors. The Internet was the most often cited source of physical activity information. The second survey (n = 1600) showed that adults 55 years of age or older and participants with the least amount of education were more than twice as likely to name commercial advertisements than were participants aged 18–54 years or those with more education. These results help further our understanding of how publicly funded promotional campaigns fare against commercial advertising and also highlight the need to understand physical activity information-seeking behavior on the Internet and its implications for health promotion.     

Medical Photography: a Trinidad Experience

In 1991, the creation of the Media Unit at the St. Augustine Campus, University of West Indies, first established medical illustration as an organized profession within the public healthcare provision of Trinidad and Tobago. Since then the Unit has overcome many difficulties, some of them unusual for medical illustrators in the developed world, not least in obtaining equipment unavailable in the country, in finding suitable working facilities, and in developing practices for veterinary work. Today the Media Unit services a wide range of the University's schools, clinics and media services, and has been instrumental in educating a new generation of healthcare professionals.     

Closing the evidence-practice gap for newborn pain using clinical networks

Aim: The Australian New Zealand Neonatal Network undertook a project to close the evidence practice gap for the management of newborn pain in neonatal units within Australia. The aim was to establish a process for using evidence to support practice change and in doing so close the existing practice evidence gap for newborn pain. Method: An implementation model using a clinical network with state facilitators, local champions and project teams was used in 24 tertiary units and six district hospitals throughout Australia. The process included audit and feedback, benchmarking, educational workshops on critical appraisal and audit of family awareness of pain. Multiple types of data were collected to enable changes in practices for pain management to be evaluated. Results: There was a 21% overall improvement in the number of infants receiving breastfeeding or sucrose for procedural pain, however, breastfeeding rates remain poorly utilised. The use of a pain assessment tool increased from 14% to 22%, with 56% of units introducing the use of an assessment tool into their practice. Families became more aware that their infant can experience pain and strategies to manage the pain (from 19% to 57%) project through distribution of information. Conclusion: The networks for the uptake of evidence program have enabled the topic of procedure pain in neonates to be evaluated. We have shown that through a well planned program of coordination, facilitation and using local champions and project teams a change in practice can occur.