No abstract

We report on three children from two families with Aicardi-Goutières syndrome. All three had congenital glaucoma. Additionally, neuroimaging demonstrated significant brain stem atrophy in the affected sib-pair. These features have not been previously described in Aicardi-Goutières syndrome and expand the phenotypic spectrum.

General rightsThis document is made available in accordance with publisher policies. Please cite only the published version using the reference above. Full terms of use are available: http://www.bristol.ac.uk/pure/about/ebr-terms 1 Mammary analogue secretory carcinoma of the salivary glands: a diagnostic dilemma AbstractMammary analogue secretory carcinoma (MASC) is a recently identified salivary gland neoplasm that can mimic other salivary gland tumours such as acinic cell carcinoma and cystadenocarcinoma. It is distinguished from these by differences in immunohistochemical profile and the identification of an ETV6-NTRK3 translocation (12;15)(p13;q25), which is also found in secretory carcinomas of the breast. Previous publications have suggested that MASC tumours have similar biological behaviour to acinic cell carcinoma. We report two cases of MASC that affected the upper lip, and showed an infiltrative and locally aggressive growth pattern that required several operations to ensure clearance of microscopic tumour cells. We report two cases of MASC of the upper lip, which showed locally aggressive biological behaviour and required a more aggressive treatment than that adopted for histological mimics such as acinic cell carcinoma. Keywords Case 1An otherwise healthy 27-year-old woman presented with a one-year history of a slowgrowing 1.5 cm lump, on her right upper lip. Cytological analysis of ultrasound-guided fine needle aspirate suggested a salivary gland neoplasm that raised the possibility of acinic cell carcinoma. The lesion was excised and histopathological analysis confirmed the diagnosis of MASC after immunohistochemical studies had stained for S100 and mammaglobin. It did not stain for DOG1. Fluorescent in situ hybridisation confirmed rearrangement of the ETV6 gene.Staging scans showed no evidence of metastases. The margins of the specimen were invaded on histopathological analysis despite the impression of macroscopic clearance at operation.She subsequently had a wedge excision of the scar with a 1cm margin but then required a repeat resection after microscopic identification of residual dispersed islands of tumour that had reached the margins. The patient had no signs of local or regional recurrence nine months after her operation (Figs. 1-3). Case 2A 51-year-old man who used to smoke and had no other relevant medical history presented with a three-year history of an asymptomatic, firm, mobile lump in his upper right labial mucosa. Histopathological examination of an excisional biopsy specimen together with immunohistochemical profile and fluorescent in situ hybridisation again suggested a diagnosis of MASC. Staging scans showed no abnormality. 3The patient had a further excision of the scar with a 1cm margin under general anaesthetic.Final histopathological analysis again showed residual tumour with a close margin at the deeper aspect of the specimen. The patient declined any further intervention so a policy of close follow-up was adopted. There were no signs of local or regional recurrence at hi...

BackgroundTopical anaesthesia is important to optimize pain control during dental injection. Our aim was to describe a new simple method for topical anaesthesia of oral mucosa and to compare the effectiveness of ice and lidocaine 5% gel for topical anaesthesia of oral mucosa.MethodsA total of 40 patients aged 10.7–19.5 years were included. The side and method of application were both randomized. Heart rate was recorded, and discomfort and pain were evaluated with a visual analogue scale (VAS). A paired t-test was used to compare mean values, a chi2 test was used to compare proportions, and a Pearson correlation test was used to examine correlations between variables.ResultsWhen ice was used, buccal injection VAS pain was rated lower (p = 0.044), and VAS discomfort was rated higher (p = 0.001), in comparison to when lidocaine 5% gel was used. There was no significant difference in relative heart rate change between ice and lidocaine 5% gel at either needle stick or injection. Lidocaine 5% gel produced a relative heart rate reduction after palatal injection (0.99 ± 0.06) while buccal injection produced an increased relative heart rate (1.02 ± 0.08) (p = 0.010). Unpleasant taste was more frequently reported when lidocaine 5% gel was used (p = 0.025). An application time of 1 min was sufficient for both ice and lidocaine 5% gel to achieve pain reduction from needle stick in buccal mucosa.ConclusionThe cheap and readily available described method using ice for topical anaesthesia of oral mucosa before dental injection is an effective alternative to lidocaine 5% gel.Trial registrationThe European Union Drug Regulating Authorities Clinical Trials Database EudraCT201300530531. Date of registration: February 10th, 2014.

To examine how to optimise the integration of multiple-choice questions (MCQs) for learning in continuing professional development (CPD) events in surgery, we implemented and evaluated two methods in two subspecialities over multiple years. The same 12 MCQs were administered pre-and post-event in 66 facial trauma courses. Two different sets of 10 MCQs were administered pre-and post-event in 21 small animal fracture courses. We performed standard psychometric tests on responses from participants who completed both the pre-and post-event assessment. The average difficulty index pre-course was 57% with a discrimination index of 0.20 for small animal fractures and 53% with a discrimination index of 0.15 for facial trauma. For the majority of the individual MCQs, the scores were between 30%-70% and the discrimination index was >0.10. The difficulty index post-course increased in both groups (to 75% and 62%). The pre-course MCQs resulted in an average score in the expected range for both formats suggesting they were appropriate for the intended level of difficulty and an appropriate pre-course learning activity. Post-course completion resulted in increased scores with both formats. Both delivery methods worked well in all regions and overall quality depends on applying a solid item development and validation process.