scholarly journals WNT5A and CREB genetic profiling from breast cancer patients: A case study of Malang population

2019 ◽  
Author(s):  
Elya Khunazatus Shima ◽  
Dwi Listyorini ◽  
Hendra Susanto ◽  
J. D. P. Wisnubroto ◽  
Patricia Karin Himawan Praceptin ◽  
...  
2020 ◽  
Vol 58 (9) ◽  
pp. 1841-1862 ◽  
Author(s):  
Francesca Dal Mas ◽  
Helena Biancuzzi ◽  
Maurizio Massaro ◽  
Luca Miceli

PurposeThe paper aims to contribute to the debate concerning the use of knowledge translation for implementing co-production processes in the healthcare sector. The study investigates a case study, in which design was used to trigger knowledge translation and foster co-production.Design/methodology/approachThe paper employs a case study methodology by analysing the experience of “Oncology in Motion”, a co-production program devoted to the recovery of breast cancer patients carried on by the IRCCS C.R.O. of Aviano, Italy.FindingsResults show how design could help to translate knowledge from various stakeholders with different skills (e.g. scientists, physicians, nurses) and emotional engagement (e.g. patients and patients' associations) during all the phases of a co-production project to support breast cancer patients in a recovery path. Stewardship theory is used to show that oncology represents a specific research context.Practical implicationsThe paper highlights the vast practical contribution that design can have in empowering knowledge translation at different levels and in a variety of co-production phases, among different stakeholders, facilitating their engagement and the achievement of the desired outcomes.Originality/valueThe paper contributes to the literature on knowledge translation in co-production projects in the healthcare sector showing how design can be effectively implemented.


2016 ◽  
Vol 10 ◽  
pp. CMO.S40479 ◽  
Author(s):  
Nikita Consul ◽  
Xiaotao Guo ◽  
Courtney Coker ◽  
Sara Lopez-Pintado ◽  
Hanina Hibshoosh ◽  
...  

Cachexia, a wasting syndrome associated with advanced cancer and metastasis, is rarely documented in breast cancer patients. However, the incidence of cachexia in breast cancer is now thought to be largely underestimated. In our case report of a breast cancer patient with bone metastasis monitored during the course of her treatment, we document the development of cachexia by image analysis in relation to her metastatic burden. Elucidation of the link between metastatic burden and cachexia could unveil a highly specific screening process for metastasis, by assessing true muscle mass loss. Our patient was a 49-year-old premenopausal woman, with metastatic invasive ductal breast carcinoma in the vertebral and iliac bones on presentation, which progressed with new metastases to her hips, thigh bones, and vertebrae. In the two-year period, that is between her diagnosis and death, she lost >10% of her baseline weight. During these two years, we retrospectively identified a decrease in paraspinal muscle (PM) at the third lumbar vertebra followed by a sharp decline in weight. The increased tumor burden over time in metastatic sites was accompanied by a decrease in abdominal muscle and visceral and subcutaneous fat and was followed by the patient's demise. The increasing tumor burden in the patient was correlated with the mass of other tissues to determine the tissue that could best serve as a surrogate marker to cachexia and tumor burden. We noted a strong negative correlation between PM area and metastatic tumor area at the third lumbar vertebral level, with PM loss correlating to increasing tumor burden. The monitoring of PM wasting may serve as a marker, and therefore a prognostic factor, for both cachexia and extent of metastatic disease, especially in breast cancer, where metastasis to bone is frequent. Based on our data and review of the literature in this case study, longitudinal monitoring of cachexia in the selected muscle groups can give clinicians early indications of the extent of cachexia in metastatic breast cancer patients.


2020 ◽  
Vol 10 (1) ◽  
Author(s):  
Munir Abu-Helalah ◽  
Belal Azab ◽  
Rasmi Mubaidin ◽  
Dema Ali ◽  
Hanan Jafar ◽  
...  

Abstract Familial breast cancer is estimated to account for 15–20% of all cases of breast cancer. Surveillance for familial breast cancer is well-established world-wide. However, this service does not exist in Jordan, due to the scarcity of information with regard to the genetic profiling of these patients, and therefore lack of recommendations for policy-makers. As such, patients with very strong family history of breast or ovarian cancers are not screened routinely; leading to preventable delay in diagnosis. Whole coding sequencing for BCRA1/BCRA2 using next-generation sequencing (NGS)/Ion PGM System was performed. Sanger sequencing were then used to confirm the pathogenic variants detected by NGS. In this study, 192 breast cancer patients (and 8 ovarian cancer cases) were included. The prevalence of recurrent pathogenic mutations was 14.5%, while the prevalence of newly detected mutations was 3.5%. Two novel pathogenic mutations were identified in BRCA2 genes. The common mutations in the Ashkenazi population used for screening may not apply in the Jordanian population, as previously reported mutations were not prevalent, and other new mutations were identified. These data will aid to establish a specific screening test for BRCA 1/BRCA2 in the Jordanian population.


Semiotica ◽  
2019 ◽  
Vol 2019 (227) ◽  
pp. 187-210
Author(s):  
John Tredinnick-Rowe

AbstractThis paper analyses the immunological response of breast cancer patients through the lens of medical semiotics. From this perspective both psychological and physiological symptoms are treated as a set of transitive signs. The symptomatic journey of breast cancer patients was documented through an ethnographic engagement with a breast cancer charity. This journey consists of diagnosis, treatment and remission, where both the physical and psychological trauma maybe irreversible. Equally the genetic disposition of each patient and the variability of the treatment give rise to a plethora of possible immunological responses. The case study organization provided both therapeutic treatment but also sold oncology products to its patients, matching the products’ composition to the specific immunological responses caused by breast cancer treatment, e.g., brittle skins or hair loss, etc. This paper explores how the varied and transient nature of immunological semiosis is identified and commoditized into an economic process. This challenging social context is of interest from a semiotic stand point because it offers a singular paradigm to explain the evolution of signs and symptoms into sales.


2021 ◽  
Vol 9 (T6) ◽  
pp. 138-142
Author(s):  
Aat Sriati ◽  
Laili Rahayuwati ◽  
Maria Komariah ◽  
Hendrawati Hendrawati ◽  
Iceu Amira ◽  
...  

Background. The high prevalence and incidence of breast cancer in Indonesia remains a disheartening issue, for it has turned out to be a threat for the quality of Indonesian women’s life. Let alone the fact that the patients and their families often lose interest in recognizing the issue of breast cancer, both benign and malignant. Besides, the problem faced by breast cancer patients in determining which kind of diagnosis or best therapy is still overlooked by the patients as well as their family members. This includes their indifference toward the patients’ nutrition during chemotherapy, which now thus must be taken into consideration. Purpose. This research aims at observing the needs in general breast cancer patients during their chemotherapy and post-therapy period. Methods. This research is the result of qualitative data collected by case study on 17 breast cancer patients undergoing chemotherapy in Al-Ihsan Hospital, Bandung District and Hasan Sadikin Hospital, Bandung City. These patients have undergone an in-depth interview either on their own or accompanied by a family member. Results. The result of the qualitative research is obtained through content analysis observation, showing a shallow understanding about therapy, both generally and specifically, regarding the importance of increasing spiritual support besides nutrition and the escalation of its amount on the patient and their families. In fact, one of the things that support the patient’s immune system during their chemotherapy is the sufficient condition of nutrition. Not only that, the result shows that cancer survivors claim they keep spiritual aspect and a balanced intake of nutrition during and after therapy. Conclusion. Therefore, it is necessary to make a formula about spiritual and nutritional needs of breast cancer patients, in the preparatory, momentary, and preempting stage of chemotherapy.


2018 ◽  
Vol 14 (20) ◽  
pp. 2067-2082
Author(s):  
Jorge Aarón Rangel-Méndez ◽  
José Feliciano Novelo-Tec ◽  
Juan Francisco Sánchez-Cruz ◽  
Roberto Cedillo-Rivera ◽  
Rosa Esther Moo-Puc

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