Publications by authors named "Robertson Mackenzie"

Objective: In April 2022 the Calorie Labelling (Out of Home) Regulations came into effect in England where cafés, restaurants, and takeaways with over 250 employees were required to provide calorie labelling on menus. Concerns have been raised regarding the potential negative impact this could have on individuals with eating disorders (EDs), yet this has not been explored using qualitative methodology.

Method: Eleven participants with a current or previously diagnosed restrictive ED were interviewed in September 2022.

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Research suggests that the COVID-19 pandemic is negatively impacting mental health, with rates of eating disorder referrals in particular rising steeply during the pandemic. This study aimed to examine 8-month changes in body image and disordered eating during the COVID-19 pandemic, and explore whether any changes were moderated by gender, age, or eating disorder history. This study used a longitudinal survey design in which 587 adults living in the UK (85 % women; mean age = 32.

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Parental restriction of food intake has been associated with heightened eating disorder psychopathology in some longitudinal research. Yet, relatively little is known about the determinants of restrictive feeding practices. This cross-sectional study explored the association between parents' anti-fat attitudes and their use of restrictive feeding practices in a mixed British (41.

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Early reports suggest that lockdown measures associated with the COVID-19 pandemic (e.g., social distancing) are having adverse consequences for people's mental health, including increases in maladaptive eating habits and body dissatisfaction.

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The main objective of this systematic review was to provide a comprehensive overview of the psychometric properties of all available Orthorexia Nervosa (ON) assessment tools, in order to evaluate their scope of application for research and practice. Ten databases were searched for studies quantitatively assessing ON. The psychometric properties were evaluated according to specified quality criteria, focusing on the reliability, structural validity and construct validity of the scales.

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Purpose: Gene expression-based molecular subtypes of high-grade serous tubo-ovarian cancer (HGSOC), demonstrated across multiple studies, may provide improved stratification for molecularly targeted trials. However, evaluation of clinical utility has been hindered by nonstandardized methods, which are not applicable in a clinical setting. We sought to generate a clinical grade minimal gene set assay for classification of individual tumor specimens into HGSOC subtypes and confirm previously reported subtype-associated features.

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Uterine carcinosarcoma is a clinically aggressive malignancy composed of a mix of carcinomatous and sarcomatous elements. We performed targeted next-generation sequencing of 27 uterine cancer and sarcoma genes together with immunohistochemical analyses of selected proteins in 30 uterine carcinosarcomas. This included 13 cases in which the distinct carcinoma and sarcoma components were sequenced separately and 10 cases where the metastatic tumours were analysed in addition to the primary tumours.

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A major weakness in many high-throughput genomic studies is the lack of consideration of a clinical environment where one patient at a time must be evaluated. We examined generalizable and platform-specific sources of variation from NanoString gene expression data on both ovarian cancer and Hodgkin lymphoma patients. A reference-based strategy, applicable to single-patient molecular testing is proposed for batch effect correction.

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Gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS) is an autosomal-dominant cancer-predisposition syndrome with a significant risk of gastric, but not colorectal, adenocarcinoma. We mapped the gene to 5q22 and found loss of the wild-type allele on 5q in fundic gland polyps from affected individuals. Whole-exome and -genome sequencing failed to find causal mutations but, through Sanger sequencing, we identified point mutations in APC promoter 1B that co-segregated with disease in all six families.

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Many women with ovarian endometrioid carcinoma present with concurrent endometrial carcinoma. Organ-confined and low-grade synchronous endometrial and ovarian tumors (SEOs) clinically behave as independent primary tumors rather than a single advanced-stage carcinoma. We used 18 SEOs to investigate the ancestral relationship between the endometrial and ovarian components.

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Epithelial ovarian cancer (EOC) consists of 5 major histotypes: high-grade serous carcinoma (HGSC), endometrioid carcinoma (EC), clear cell carcinoma (CCC), mucinous carcinoma (MC), and low-grade serous carcinoma (LGSC). Each can have a broad spectrum of morphologic appearances, and 1 histotype can closely mimic histopathologic features more typical of another. Historically, there has been a relatively high frequency of mixed, defined by 2 or more distinct histotypes present on the basis of routine histopathologic assessment, histotype carcinoma diagnoses (3% to 11%); however, recent immunohistochemical (IHC) studies identifying histotype-specific markers and allowing more refined histotype diagnoses suggest a much lower incidence.

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Background: Mucinous ovarian tumors represent a distinct histotype of epithelial ovarian cancer. The rarest (2-4 % of ovarian carcinomas) of the five major histotypes, their genomic landscape remains poorly described. We undertook hotspot sequencing of 50 genes commonly mutated in human cancer across 69 mucinous ovarian tumors.

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Aims: The diagnosis of adult-type granulosa cell tumours of the ovary (aGCT) is based on histomorphology aided by immunohistochemical staining for sex cord markers. Recently a single, recurrent somatic point mutation (402C→G) in FOXL2 was described in aGCT. We have investigated the impact of FOXL2 mutation testing in a large cohort of aGCT diagnosed previously by conventional histology and immunohistochemistry.

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A single, recurrent somatic point mutation (402C→G) in FOXL2 has been described in almost all adult-type granulosa cell tumors but not other ovarian neoplasms. Histopathological features of adult-type granulosa cell tumors can be mimicked by a variety of other tumors, making diagnosis of adult-type granulosa cell tumor challenging. It has been suggested that molecular testing for FOXL2 mutation might be a useful tool in the diagnosis of adult-type granulosa cell tumors.

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