Risk for Hereditary Neoplastic Syndromes in Women with Mismatch Repair-Proficient Endometrial Cancer.

Endometrial cancer (EC) is a prevalent malignancy in women, and those who are proficient in the DNA mismatch repair (pMMR) pathway may have a family history (FH) that meets the criteria for a hereditary neoplastic condition (HNS). This study aimed to estimate the risk of HNS in women with pMMR endometrial tumors by analyzing their FH. To achieve this, we collaborated with a primary study and collected FH information by telephone. The final sample comprised 42 women who responded to the Primary Screening Questionnaire. Their family pedigrees were drawn and categorized according to internationally standardized criteria for the risk of HNS. Results showed that 26 women (61%) were found to be at risk for HNS, with Bethesda criteria being met by 23%, Amsterdam criteria by 15%, and 4% met the attenuated familial adenomatous polyposis criteria. Our results emphasize the importance of FH and the need to encourage healthcare professionals to collect and document FH more frequently, even if it is self-reported. By identifying individuals with HNS, we can improve their outcomes and reduce the burden of cancer in families with a predisposition to cancer.

Educational Actions to Raise Student Awareness About the Donation and Transplantation of Human Organs and Tissues.

BACKGROUND: In Brazil, family refusal to donate organs and tissues is the main reason for not performing transplants, making it necessary to implement different educational strategies in diverse populations on this topic. Thus, this study aimed to raise awareness among school-aged adolescents about the method of organ and tissue donation and transplantation. METHODS: This is a descriptive experience report with a quantitative and qualitative approach to educational actions in the school environment, mediated by the action research method, carried out with 936 students aged between 14 and 18 years from public schools in the interior of Sao Paulo, Brazil. These actions were developed according to the themes identified and worked on through the culture circle, using active methodologies. Two semistructured questionnaires were applied, pre- and postinterventions. For analysis, sample normality tests and Student's t test were used (P < .0001). RESULTS: The topics identified were as follows: clarifications on the legislative history of donation and transplants; diagnosis of brain and circulatory death; bioethical aspects of transplants; reflections on mourning, death, and dying; maintenance and notification of the potential donor; types of viable organs and tissues for donation; and the process from collection to transplantation, among others. Comparative analysis showed statistical differences between pre- and postinterventions. CONCLUSIONS: Educational interventions through active methodologies are presented as tools capable of making students aware of organ and tissue donation and transplantation.

Temperature Monitoring of Two Different Thermal Boxes for the Transport of Biological Samples.

BACKGROUND: According to the Resolutions of the Collegiate Board of Directors RDC No. 20/2014, 214/2018, and 707/2022, validation of the temperature of thermal boxes for the transport of biological samples must be based on standardized procedures and tested by the Tissue Banks, guaranteeing safety and quality. Therefore, they can be simulated. Our objective was to monitor and compare the temperature of 2 different coolers while transporting biological samples. METHODS: The following items were packed in each of the 2 different thermal boxes (Box 1: Easy Path; Box 2: Safe Box Polyurethane Vegetal): 6 blood samples (30 mL), one bone tissue sample (200 g), 8 hard ice (Gelox, to keep the temperature <8ºC), and internal and external traceability "Time Stamp" sensors installed for measuring and storing temperature data in real-time. The monitored boxes were placed in the trunk of a bus that traveled an approximate distance of 630 km and were then placed in the trunk of a car, under direct sunlight, until they reached a temperature of 8ºC. RESULTS: In Box 1, the internal temperature was maintained in the range of -7ºC to 8ºC for approximately 26 hours. In Box 2, the internal temperature was maintained in the range of -10ºC to 8ºC for approximately 98 hours and 40 minutes. CONCLUSIONS: We concluded that both coolers, under similar storage conditions, are suitable for transporting biological samples, with Box 2 maintaining the desired temperature for longer.

Models of Quality Management Systems Applied in Specialized Services for the Donation and Transplantation of Human Organs and Tissues.

BACKGROUND: Quality management tools and models are used to improve processes and products, including those related to organ and tissue donation and transplantation protocols. This study aims to map, discuss, and disseminate models/tools of quality management systems applied in health services, specializing in the donation and/or transplantation of human organs and tissues. METHODS: This is an integrative literature review over the last 10 years, operationalized through searches carried out on the PubMed portal and the databases: SciVerse Scopus (SCOPUS), Scielo, Latin American and Caribbean Literature on Health Sciences (LILACS), Nursing Database (BDENF), and the Virtual Health Library (BVS). The organization of search results in the databases and the election of articles compatible with the guiding question and the inclusion and exclusion criteria for this study took place through the online and free application platform Rayyan. RESULTS: Six hundred seventy-eight records were found, of which, after careful analysis, 18 articles were considered relevant to the theme. We identified 17 quality management models and/or tools that emphasize using scientifically proven and/or validated techniques to reduce or eliminate the possibility of risks in the processes that permeate the stages of donation and transplantation of organs and tissues. CONCLUSION: This review brought the possible tools used and published, which can be perceived, reproduced, and improved, through the role of the multidisciplinary team in specialized centers for the donation and transplantation of human organs and tissues, aiming to offer a process of continuous improvement management to deliver better products and services.

Polymorphisms rs2010963 and rs833061 of the VEGF gene in polycystic ovary syndrome.

OBJECTIVE: The polycystic ovary syndrome is the most common endocrine disorder, characterized by the dysregulation of ovarian angiogenesis. This alteration can be related to changes in the activities of the vascular endothelial growth factor (VEGF) gene. Single-nucleotide polymorphisms have been observed in the promoter, intronic, and untranslated regions of the VEGF gene, and several studies have suggested that these polymorphisms may be associated with the risk of polycystic ovary syndrome. This study aimed to investigate the association between rs2010963 and rs833061 polymorphisms and haplotypes of VEGF in the etiology of polycystic ovary syndrome. METHODS: A total of 210 women, 102 diagnosed with polycystic ovary syndrome and 108 controls, participated in this study. The genotyping of the samples was performed by PCR-RFLP and real-time PCR for rs2010963 and rs833061 polymorphisms, respectively. The statistical analyses were performed by the chi-square test and logistic regression model. RESULTS: The clinical characteristics of the patients showed that 75.8% of the patients did not become pregnant, 36.3% had a family history of polycystic ovary syndrome, 58.6% were obese, and about 60% had clinical characteristics of hyperandrogenism. There were no associations between the distribution of rs2010963 (OR 1.24; 95%CI 0.60-2.57; p=0.56) and rs833061 (OR 0.78; 95%CI 0.32-1.92; p=0.59) in patients and controls. CONCLUSIONS: The patients with polycystic ovary syndrome have similar rates of VEGF polymorphisms rs2010963 and rs833061 on the general population.

Polymorphisms rs2010963 and rs833061 of the VEGF gene in polycystic ovary syndrome

SUMMARY OBJECTIVE: The polycystic ovary syndrome is the most common endocrine disorder, characterized by the dysregulation of ovarian angiogenesis. This alteration can be related to changes in the activities of the vascular endothelial growth factor (VEGF) gene. Single-nucleotide polymorphisms have been observed in the promoter, intronic, and untranslated regions of the VEGF gene, and several studies have suggested that these polymorphisms may be associated with the risk of polycystic ovary syndrome. This study aimed to investigate the association between rs2010963 and rs833061 polymorphisms and haplotypes of VEGF in the etiology of polycystic ovary syndrome. METHODS: A total of 210 women, 102 diagnosed with polycystic ovary syndrome and 108 controls, participated in this study. The genotyping of the samples was performed by PCR-RFLP and real-time PCR for rs2010963 and rs833061 polymorphisms, respectively. The statistical analyses were performed by the chi-square test and logistic regression model. RESULTS: The clinical characteristics of the patients showed that 75.8% of the patients did not become pregnant, 36.3% had a family history of polycystic ovary syndrome, 58.6% were obese, and about 60% had clinical characteristics of hyperandrogenism. There were no associations between the distribution of rs2010963 (OR 1.24; 95%CI 0.60-2.57; p=0.56) and rs833061 (OR 0.78; 95%CI 0.32-1.92; p=0.59) in patients and controls. CONCLUSIONS: The patients with polycystic ovary syndrome have similar rates of VEGF polymorphisms rs2010963 and rs833061 on the general population.

Markers of mitochondrial energy metabolism and their potential relationships with fatigue in human adults: a scoping review

This scoping review aimed to synthesize the best available evidence of the associations between molecular and genetic markers of mitochondrial metabolism and fatigue in human adults. The research question guiding this review was, "Are there potential relationships between mitochondrial metabolism markers and fatigue?" The literature search used three terms (mitochondria; fatigue; energy metabolism), which yielded 263 manuscripts and 22 theses/dissertations. The studies included in the review had to meet three criteria: (1) Include adult participants (≥18 years of age); (2) Show a relationship between mitochondrial energy metabolism and fatigue; (3) Be published in English, Spanish, or Portuguese. Of the 17 articles included for a full-text review, some had a cross-sectional design (6/17, 35%), and more than half (12/17, 70%) were published between 2015 and 2020. The predominant population studied were patients diagnosed with chronic fatigue syndrome (9/17, 53%). Most studies (15/17, 88%) assessed fatigue with validated instruments. Mitochondrial markers associated with fatigue are a) mitochondrial transport pathways and respiratory chain, b) mutations in mitochondrial DNA, and c) energy disorders in cells of the immune system, such as natural killer cells. Mitochondrial metabolic activities, such as the production and transport of ATP, are significant components that may help understand the etiology of fatigue. Future directions should include longitudinal study designs, characterization of fatigue phenotypes, and the identification of markers involved in production and transport pathways. The clinical relevance in this field can lead to interventions targeting mitochondrial markers to reduce or prevent fatigue.

Implementation and certification of ISO 9001:2015 seal in human tissue bank HCFMRP-USP.

The Quality Management System has been a management technology applied to guarantee the quality of processes and products of a given organization. Thus, ISO 9001:2015 certification assists organizations that want to develop, implement, maintain, and improve a quality management system to enable process improvements and assessments to meet the needs of its customers. This experience report addresses the implementation and certification of the ISO 9001:2015 quality management seal at the Human Tissue Bank of the Ribeirão Preto Clinical Hospital (HCRP) at the University of São Paulo (USP) at Ribeirão Preto Medical School (FMRP)-Brazil. In 2018, the Human Tissue Bank, in partnership with HCRP, received consultancies from PRIMEMODE. The consulting consisted of visits that elucidated the processes to the employees of the Tissue Bank, enabling them to clarify the applicability of all items of the standard. In March 2019, the Tissue Bank received the audit visit and was certified with the ISO 9001:2015 Seal by the Carlos Alberto Vanzolini Foundation. The Tissue Bank aims to provide human tissues for transplantation and research from organ donors. It has a complex physical structure within the required health and legal standards. Also, now it has a quality management seal. The certification guarantees the process organization and the high quality standard of the supplied tissues.