Purpose. Knowledge of BRCA1 and BRCA2 mutations has a significant clinical impact on the management and prevention of breast cancer. In this study, we evaluate the pattern and prevalence of germline mutations in BRCA1 and BRCA2 among high-risk Jordanian breast cancer patients selected as per international guidelines. Methods. BRCA1 and BRCA2 testing were performed at a reference genetic lab. Mutations were classified as pathogenic/likely pathogenic and variant of uncertain significance (VUS). Results. A total of 517 patients, median age: 39 (range: 19–78) years, were enrolled. Among the whole group, 72 (13.9%) patients had pathogenic or likely pathogenic BRCA1 (n = 24, 4.6%) or BRCA2 (n = 48, 9.3%) mutations, while 53 (10.3%) others had VUS. Among 333 younger (≤40 years) patients, mutations were observed in 44 (13.2%). Positive mutations were found in 40 (16.5%) patients with one or more close relatives with breast cancer and in 20 (35.1%) of the 57 patients with triple-negative disease. Multivariate analysis showed that a triple-negative status, history of two or more close relatives with breast cancer, and history of one or more close relatives with invasive ovarian cancer were associated with significant high odds ratios (OR) of carrying a pathogenic variant, with an OR (95% CI) of 5.08 (2.66–9.67), 3.24 (1.78–5.89), and 2.97 (1.04–8.52), respectively. Conclusions. BRCA1 and BRCA2 mutations are not uncommon among Jordanian patients. Young age has the weakest association with positive mutations, while patients with triple-negative disease, especially those with an additional positive family history, have the highest mutation rate.
Purpose. Experimental data suggest that tumour cells can reversibly transition between epithelial and mesenchymal states (EMT and MET), a phenomenon known as cellular plasticity. The aim of this review was to appraise the clinical evidence for the role of cellular plasticity in prostate cancer (PC) bone metastasis. Methods. An electronic search was performed using PubMed for studies that have examined the differential expression of epithelial, mesenchymal, and stem cell markers in human PC bone metastasis tissues. Results. The review included nineteen studies. More than 60% of the studies used ≤20 bone metastasis samples, and there were several sources of heterogeneity between studies. Overall, most stem cell markers analysed, except for CXCR4, were positively expressed in bone metastasis tissues, while the expression of EMT and MET markers was heterogeneous between and within samples. Several EMT and stemness markers that are involved in osteomimicry, such as Notch, Met receptor, and Wnt/β pathway, were highly expressed in bone metastases. Conclusions. Clinical findings support the role of cellular plasticity in PC bone metastasis and suggest that epithelial and mesenchymal states cannot be taken in isolation when targeting PC bone metastasis. The paper also highlights several challenges in the clinical detection of cellular plasticity.
In conclusion, this cross-sectional study showed that myths of low back pain widely exist among Irish population studied . The level of education played an important role. The findings from this study suggest that public health information regarding low back pain is inadequate and has not affected attitudes to low back pain in an Irish population.
Background Low back pain (LBP) is common, affecting 58–84% of adults at some point. In benign cases, misinformation can lead to harmful coping strategies and prolonged recovery time. Deyo has identified seven ‘Myths of Back Pain’ as misconceptions commonly seen in clinical practice of which doctors-in-training should be aware. We sought to determine medical students’ baseline knowledge of the prognosis and management of LBP compared to the general public and to dispel the ‘Myths of Back Pain’. Methods We carried out a cross-sectional study of medical students (pre-clinical and clinical) at the National University of Ireland, Galway where students completed a questionnaire outlining the seven ‘Myths of Back Pain’. Final year students completed the survey before and after a seminar on LBP. Students’ results were compared with a random sample of the public who attended Galway University Hospital. Results Two hundred nineteen students completed the questionnaire (59% female, 41% male). The mean age was 21 years (17–32). The mean number of correct answers increased according to medical school year (premedical 3/7, first year 4/7, final year 5/7). A personal history of back pain and female sex were associated with higher scores. On average, medical students answered 4/7 questions correctly overall, compared to the public ( n = 131) who averaged at 3/7. Final years dispelled one further myth after their LBP seminar. Conclusions Common misconceptions around LBP are prevalent among medical students and the general public. It is important that medical school curricula address these issues as part of their musculoskeletal programme.
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