Body image and psychosocial well-being among UK military personnel and veterans who sustained appearance-altering conflict injuries.

A modest but significant number of military personnel sustained injuries during deployments resulting in an altered-appearance (e.g., limb loss and/or scarring). Civilian research indicates that appearance-altering injuries can affect psychosocial wellbeing, yet little is known about the impact of such injuries among injured personnel. This study aimed to understand the psychosocial impact of appearance-altering injuries and possible support needs among UK military personnel and veterans. Semi-structured interviews with 23 military participants who sustained appearance-altering injuries during deployments or training since 1969 were conducted. The interviews were analyzed using reflexive thematic analysis, identifying six master themes. These themes indicate that in the context of broader recovery experiences, military personnel and veterans experience a variety of psychosocial difficulties related to their changed appearance. While some of these are consistent with evidence from civilians, military-related nuances in the challenges, protective experiences, coping approaches, and preferences for support are evident. Personnel and veterans with appearance-altering injuries may require specific support for adjusting to their changed appearance and related difficulties. However, barriers to acknowledging appearance concerns were identified. Implications for support provision and future research are discussed.

Multiplex ligation-dependent probe amplification copy number variant analysis in patients with acquired long QT syndrome.

AIMS: Thirteen genetic loci map to families with congenital long QT syndrome (cLQT) and multiple single nucleotide mutations have been functionally implicated in cLQT. Studies have investigated copy number variations (CNVs) in the cLQT genes to ascertain their involvement in cLQT. In these studies 3-12% of cLQT patients who were mutation negative by all other methods carried CNVs in cLQT genes. Prolongation of the QT interval can also be acquired after exposure to certain drugs [acquired LQT (aLQT)]. Single nucleotide mutations in cLQT genes have also been associated with and functionally implicated in aLQT, but to date no studies have explored CNVs as an additional susceptibility factor in aLQT. The aim of this study was to explore the contribution of CNVs in determining susceptibility to aLQT. METHODS AND RESULTS: In this study we screened the commonest cLQT genes (KCNQ1; KCNH2; SCN5A; KCNE1, and KCNE2) in a general population of healthy volunteers and in a cohort of subjects presenting with aLQT for CNVs using the multiplex ligation-dependent probe amplification method. Copy number variants were detected and confirmed in 1 of 197 of the healthy volunteers and in 1 of 90 subjects with aLQT. The CNV in the aLQT subject was functionally characterized and demonstrated impaired channel function. CONCLUSION: Copy number variation is a possible additional risk factor for aLQT and should be considered for incorporation into pharmacogenetic screening of LQTS genes in addition to mutation detection to improve the safety of medication administration.

Isolation and extraction of circulating tumor DNA from patients with small cell lung cancer.

There is no consensus on the optimal protocol for isolation of circulating tumor DNA. We report our comparison of several extraction methods and variables that may affect yield, quality, and contamination of tumor DNA. DNA was extracted from the plasma and serum of five healthy volunteers by means of four different commercially available kits and DNA yield was quantified by real-time PCR. DNA was extracted using the optimum kit from the plasma and serum of an additional 10 healthy volunteers and 10 patients with small cell lung cancer (SCLC) to compare yield and DNA fragment size in plasma versus serum and in those with SCLC versus controls. Time to sample processing was also examined. We found that DNA yield was greatest using the QIAamp Viral Spin Kit. Delayed time to processing led to increased DNA concentrations in serum, but not plasma. The plasma DNA concentration in SCLC patients was significantly higher than in healthy volunteers (24.5 ng/mL versus 5.1 ng/mL, P= 0.002). In contrast, there was no significant difference in serum DNA concentrations between controls and patients that may be explained by the wide variability and range of DNA concentrations in serum. A significantly higher proportion of longer fragments (272 bp/60 bp) was observed in the plasma DNA extracted from patients with SCLC than in healthy controls (13% versus 8%, P= 0.04). There was absence of DNA fragments of 512 bp in healthy control plasma, but faint bands were observed in serum, which is thought to be due to cellular contamination. We conclude that plasma is a more reliable source of tumor DNA then serum and have optimized a robust procedure for plasma tumor DNA isolation that can be applied to translational research studies.