Facial Muscle Anatomy Based Approach for Forensic Facial Reconstruction in Sri Lanka

Objective: This process of forensic facial reconstruction is still at its infancy in Sri Lanka and is yet to utilize the advanced technologies of other countries. Hence introducing a more efficient, semi-automated 3D Computer graphics based technique to the local forensic officials is the aim of this study. Method: The process involves capturing a 3D model of the skull and digitally sculpting facial muscles on the model with the aid of forensic facial markers. Separate analyses were also conducted for both facial tissue thickness and facial component variations in Sri Lankans to achieve an improved result. This procedure was adopted on cases of the age category 20-30 years/ medium weight. Results: The facial tissue thickness analysis conducted by the research team confirmed that tissue thickness data of other countries cannot be adopted in the local context. It was observed that Sri Lankans have a different facial soft tissue thickness mainly in the following areas; Gonion, Sub M2, Supra M2 and the area beneath the chin. The facial feature analysis discovered the most common nasal and eye indexes which were then modeled in to the final output. In most of the user surveys, more than 50% of the respondents were able to identify the deceased person by means of the reconstructed model and the feedback was satisfactory.Conclusion:  Based on the cost analysis and the results of the evaluations, adopting the suggested novel application and establishing the first unit for facial reconstruction in Sri Lanka would be highly recommendable.

Evaluation of appendicitis risk prediction models in adults with suspected appendicitis

Background Appendicitis is the most common general surgical emergency worldwide, but its diagnosis remains challenging. The aim of this study was to determine whether existing risk prediction models can reliably identify patients presenting to hospital in the UK with acute right iliac fossa (RIF) pain who are at low risk of appendicitis. Methods A systematic search was completed to identify all existing appendicitis risk prediction models. Models were validated using UK data from an international prospective cohort study that captured consecutive patients aged 16–45 years presenting to hospital with acute RIF in March to June 2017. The main outcome was best achievable model specificity (proportion of patients who did not have appendicitis correctly classified as low risk) whilst maintaining a failure rate below 5 per cent (proportion of patients identified as low risk who actually had appendicitis). Results Some 5345 patients across 154 UK hospitals were identified, of which two‐thirds (3613 of 5345, 67·6 per cent) were women. Women were more than twice as likely to undergo surgery with removal of a histologically normal appendix (272 of 964, 28·2 per cent) than men (120 of 993, 12·1 per cent) (relative risk 2·33, 95 per cent c.i. 1·92 to 2·84; P < 0·001). Of 15 validated risk prediction models, the Adult Appendicitis Score performed best (cut‐off score 8 or less, specificity 63·1 per cent, failure rate 3·7 per cent). The Appendicitis Inflammatory Response Score performed best for men (cut‐off score 2 or less, specificity 24·7 per cent, failure rate 2·4 per cent). Conclusion Women in the UK had a disproportionate risk of admission without surgical intervention and had high rates of normal appendicectomy. Risk prediction models to support shared decision‐making by identifying adults in the UK at low risk of appendicitis were identified

<i>TERT</i> structural rearrangements in metastatic pheochromocytomas

Pheochromocytomas (PC) and paragangliomas (PGL) are endocrine tumors for which the genetic and clinicopathological features of metastatic progression remain incompletely understood. As a result, the risk of metastasis from a primary tumor cannot be predicted. Early diagnosis of individuals at high risk of developing metastases is clinically important and the identification of new biomarkers that are predictive of metastatic potential is of high value. Activation of TERT has been associated with a number of malignant tumors, including PC/PGL. However, the mechanism of TERT activation in the majority of PC/PGL remains unclear. As TERT promoter mutations occur rarely in PC/PGL, we hypothesized that other mechanisms - such as structural variations - may underlie TERT activation in these tumors. From 35 PC and four PGL, we identified three primary PCs that developed metastases with elevated TERT expression, each of which lacked TERT promoter mutations and promoter DNA methylation. Using whole genome sequencing, we identified somatic structural alterations proximal to the TERT locus in two of these tumors. In both tumors, the genomic rearrangements led to the positioning of super-enhancers proximal to the TERT promoter, that are likely responsible for the activation of the normally tightly repressed TERT expression in chromaffin cells