FLABRA, frontline approach for BRCA testing in ovarian cancer (OC) treatment naïve population: A Latin America (LA) epidemiologic study.

2019 ◽  
Vol 37 (15_suppl) ◽  
pp. e17050-e17050
Author(s):  
Susana Beatriz Goncalves ◽  
Gonzalo Giornelli ◽  
Marcelo Horacio Pereira ◽  
Dolores Gallardo-Rincon ◽  
Maria Del Pilar Estevez-Diz
Keyword(s):  
Genetic Counseling ◽  
Latin American ◽  
Somatic Mutations ◽  
Significant Proportion ◽  
Epidemiologic Study ◽  
Parp Inhibitors ◽  
Brca Testing ◽  
Brca Mutations ◽  
Cross Sectional ◽  
Preliminary Results

e17050 Background: The majority of OC cases are sporadic, but it is estimated that in 17%, germline mutations in BRCA1 or BRCA2 genes can be identified. BRCA mutated OC has distinct clinical characteristics, increased sensitivity to platinum and non-platinum agents, and to DNA damage repair (DDR) targeting agents like PARP inhibitors. Additionally, somatic BRCA mutations could be identified in tumor tissue. The prevalence of germline BRCA mutations (gBRCAm) and somatic mutations (sBRCAm) has been not been characterized in Latin-american population, which is a paradigm of poly-ethnicity, where prevalence of germline, but especially somatic BRCA mutations in OC, has not been studied. Furthermore, tumor testing as first step may be a new option in BRCA testing algorithm that could avoid the necessity for double testing (gBRCA, then sBRCA testing), in case of gBRCAm negative result. Methods: FLABRA is a cross-sectional, multi-center, study designed to determine the prevalence of sBRCAm in newly diagnosed OC patients versus gBRCAm, and to describe different treatment approaches at front line in LA, as well as current OC genetic counselling. We enrolled 400 consecutive patients from 40 institutions in Argentina, Brazil, Colombia, Mexico, Peru and Panama, diagnosed with OC. Tumor blocks were tested for sBRCA (Myriad Tumor BRACAnalysis CDx™). In sBRCA positive patients, blood samples were analyzed to confirm if the mutation was germline or somatic in origin. In gBRCAm, genetic counseling was advised. Medical records were reviewed for data relevant to medical history, surgery results, treatment approach and genetic counseling. Results: We present the preliminary results with 291 patients already tested. For this first subset of patients, 85/291 (29%) had BRCA mutations identified in their tumors. Preliminary results confirm that starting with tumor testing enlarges the population eligible for PARP inhibitors, by identifying additional patients with somatic mutations only detectable in the tumor. Although preliminary, our data confirms the possibility of identifying additional patients with sBRCA mutations by testing in tumor, with a more cost-effective approach, avoiding a second round of gBRCA testing in patients with BRCA negative results in tumor. Conclusions: In this preliminary analysis we found that somatic BRCA mutations account for a significant proportion from total BRCA mutations within LA population studied.

scholarly journals FLABRA, frontline approach for BRCA testing in an ovarian cancer population: a Latin America epidemiologic study

2021 ◽  
Author(s):  
Gonzalo Giornelli ◽  
Dolores Gallardo ◽  
Roberto Hegg ◽  
Gonzalo Gomez Abuin ◽  
Maximo De La Vega ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Latin America ◽  
Genetic Counseling ◽  
Latin American ◽  
Treatment Plan ◽  
Epidemiologic Study ◽  
Brca Mutations ◽  
Clinical Trial Registration ◽  
Uncertain Significance ◽  
Management Approaches

Aim: FLABRA (NCT02984423) evaluated prevalence of BRCA mutations, genetic counseling and management approaches in patients with ovarian cancer in Latin America. Patients & methods: Patients with ovarian cancer from six Latin American countries were enrolled. Tumor samples were tested for BRCA mutations. In cases with BRCA mutations ( BRCA mut), blood samples were analyzed to determine germline versus somatic mutations. Medical records were reviewed for counseling approach and treatment plan. Results: From 472 patients enrolled, 406 samples yielded conclusive results: 282 were BRCA wild-type ( BRCA wt), 115 were  BRCA mut and nine were variants of uncertain significance. In total, 110/115 were tested for germline mutations (77 germline and 33 somatic). Conclusion: Tumor testing to identify mutations in BRCA1/2 in ovarian cancer can help optimize treatment choices, meaning fewer patients require germline testing and genetic counseling, a scant resource in Latin America. Clinical trial registration: NCT02984423 (https://ClinicalTrials.gov)

Somatic versus germline BRCA mutations screening in ovarian cancer.

2017 ◽  
Vol 35 (15_suppl) ◽  
pp. e13100-e13100
Author(s):  
Hugo SM Nunes ◽  
Patricia Machado ◽  
Sofia Fragoso ◽  
Sidonia Santos ◽  
Fernanda Silva ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Somatic Mutations ◽  
Brca Mutation ◽  
Point Mutations ◽  
Parp Inhibitors ◽  
Brca Mutations ◽  
Alu Element ◽  
Brca1 Carriers ◽  
Large Rearrangements ◽  
Clinic Medical

e13100 Background: ovarian cancer (OC) with germinal or somatic BRCA mutations responds better to platinum and to PARP-inhibitors. There is great enthusiasm about BRCA somatic screening. Our aim was to analyse the correlation between BRCA somatic and germline mutational profile. Methods: a cohort of 23 pts was obtained by cross-linking OC pts from the South Portuguese Cancer Registry, between 2009-2014 and BRCA mutation carriers identified in our Clinic. Medical records were reviewed: demographic and clinico-pathologic data obtained. Germinal screening: pts were pre-screened for the BRCA2 Portuguese founder mutation (PFM), analysed for BRCA point mutations (different screening methodologies were used in diagnostic timeline: initially CSGE, then CSCE and finally NGS) and for large rearrangements by MLPA. Somatic screening: DNA was extracted from 5 sections of 10µm of FFPE tissue and analysed for BRCA1/2 genes by NGS. Results: clinico-pathological features of the 23 pts revealed mainly high-grade serous histology (96%). Mean age at diagnosis was 54 years old (33-76); BRCA2 were older than BRCA1 carriers (62 vs 51). Most pts presented at advanced stage (70% stages III-IV; 30% stage I-II). Seventeen were BRCA1 carriers and 6 were BRCA2 (5 of those PFM, a large insertion of an Alu element). Somatic correlation: 8 pts (5 BRCA1, 3PFM) were already analysed and 100% correlation was observed for all point mutations. One additional BRCA2 somatic mutation was detected (with a variant allele frequency of 53% whereas 2 others were < 7%); interestingly exclusive somatic mutations were only observed in PFM carriers (known not to be NGS detectable). The remaining 15 pts are under analysis. Conclusions: it was expected that the PFM and other large rearrangements would not be detected with NGS. A specific somatic screening for the PFM may be possible but other rearrangements are found by MLPA in our population (10% of all BRCA mutations). Preliminary data adds to the evidence that NGS OC somatic screening will identify all germinal point mutations and an indeterminate number of additional pts with exclusive somatic mutations. An ideal correlation needs integration of differenttechniques that may increase complexity, time and cost.

scholarly journals Colonoscopy-related injury among colonoscopists: an international survey

2021 ◽  
Vol 09 (01) ◽  
pp. E102-E109
Author(s):  
Ammar Al-Rifaie ◽  
Mohammed Gariballa ◽  
Alhassan Ghodeif ◽  
Stephen Hodge ◽  
Mo Thoufeeq ◽  
...  
Keyword(s):  
Body Position ◽  
Health Hazard ◽  
Significant Proportion ◽  
Musculoskeletal Injuries ◽  
British Society ◽  
Treatment Modalities ◽  
Cross Sectional ◽  
Electronic Survey ◽  
Repetitive Movements ◽  
Level Of Experience

Abstract Background and study aims Colonoscopy is physically demanding for endoscopists and patients. Repetitive movements during colonoscopy can lead to overuse injuries. We aimed to explore the prevalence and range of colonoscopy-related musculoskeletal injuries (CRIs) in endoscopists. Methods A cross-sectional electronic survey of 1825 endoscopists was performed. The sample was composed of members of the British Society of Gastroenterology, European Society of Gastrointestinal Endoscopy, and National Nurse Endoscopy Group (UK). The survey comprised 20 questions. These included: endoscopists’ workload, level of experience, and their perceived CRIs. All endoscopists who perform colonoscopy independently were included in the analysis. Results A total of 368 questionnaires were completed of 1825 surveyed (20.16 %). Of those, 319 participants (17.48 %) were fully independent in colonoscopy. Of 319 endoscopists, 254 (79.6 %) have experienced musculoskeletal injuries. These were reported as either possibly (n = 143, 56.3 %) or definitely (n = 90, 35.4 %) related to colonoscopy. Commonly injured areas were the lower back (n = 85, 36.5 %), neck (n = 82, 35.2 %) and left thumb (n = 79, 33.9 %). Of the injured endoscopists, 98 (30.7 %) made some modification to their practice, such as stretching exercises and ergonomic changes. Of the endoscopists, 134 (42.0 %) thought that repetitive limb strain was a likely causative mechanism. Around 40 % believed that torquing the scope and challenging body position were precipitating CRIs. Several treatment modalities were used to treat CRIs. These included; physiotherapy (n = 109), medications (n = 70), rest (n = 43), splinting (n = 31), steroid injections (n = 26) and surgery (n = 11). Conclusions A significant proportion of colonoscopists experience CRIs. The majority of the suggested modifications to practice can be adopted by any endoscopist. These results highlight the need to recognise CRI as an important occupational health hazard and to adopt preventative strategies routinely in the future.

scholarly journals Mealtime Environment and Control of Food Intake in Healthy Children and in Children with Gastrointestinal Diseases

Children ◽  
2021 ◽  
Vol 8 (2) ◽  
pp. 77
Author(s):  
Katerina Sdravou ◽  
Elpida Emmanouilidou-Fotoulaki ◽  
Athanasia Printza ◽  
Elias Andreoulakis ◽  
Athanasios Evangeliou ◽  
...  
Keyword(s):  
Food Intake ◽  
Gastrointestinal Disease ◽  
Significant Proportion ◽  
Gastrointestinal Diseases ◽  
Healthy Children ◽  
Cross Sectional ◽  
Frequent Use ◽  
Child Autonomy ◽  
And Control ◽  
Mealtime Environment

Parental feeding practices and mealtime routine significantly influence a child’s eating behavior. The aim of this study was to investigate the mealtime environment in healthy children and children with gastrointestinal diseases. We conducted a cross-sectional case–control study among 787 healthy, typically developing children and 141 children with gastrointestinal diseases, aged two to seven years. Parents were asked to provide data on demographics and describe their mealtime environment by answering to 24 closed-ended questions. It was found that the majority of the children had the same number of meals every day and at the same hour. Parents of both groups exerted considerable control on the child’s food intake by deciding both when and what their child eats. Almost one third of the parents also decided how much their child eats. The two groups differed significantly in nine of the 24 questions. The study showed that both groups provided structured and consistent mealtime environments. However, a significant proportion of children did not control how much they eat which might impede their ability to self-regulate eating. The presence of a gastrointestinal disease was found to be associated with reduced child autonomy, hampered hunger cues and frequent use of distractions during meals.

scholarly journals Trends in social inequalities in breastfeeding and infant formulas in Latin American countries between the 1990 and 2010 decades

2021 ◽  
pp. 1-10
Author(s):  
Camila S Ferreira ◽  
Catarina M Azeredo ◽  
Ana Elisa M Rinaldi
Keyword(s):  
Dominican Republic ◽  
Social Inequality ◽  
Latin American ◽  
Low Income ◽  
Social Inequalities ◽  
Weighted Least Squares ◽  
Cross Sectional Study ◽  
Demographic And Health Surveys ◽  
Cross Sectional ◽  
Simultaneous Decrease

Abstract Objective: To analyse trends of social inequality in breastfeeding and infant formula (IF) use in Latin America between 1990 and 2010 decades. Design: Time-series cross-sectional study with data from Demographic and Health Surveys. We described the prevalence of exclusive breastfeeding (EBF), breastfeeding between 6 and 12 months (BF6-12) and IF for infants under 6 months (IF < 6) and between 6 and 12 months (IF6-12). Social inequalities were assessed using the slope index of inequality (SII) and concentration index (CIX). Trends in the prevalence of breastfeeding, IF and index of social inequality were analysed by a linear regression model with weighted least squares variance. Setting: Bolivia, Colombia, Dominican Republic, Guatemala, Haiti and Peru. Participants: 51·358 alive infants younger than 12 months. Results: Five countries showed an increasing trend for EBF and BF6-12, four increased for IF < 6 and six for IF6-12. Simultaneous decrease in IF < 6 (Colombia: −0·3/year; Haiti: −0·02/year) and increase in EBF (Colombia: +2·0/year; Haiti: +1·9/year) were observed only in two countries. EBF prevalence was high in the lowest income quintiles in five countries, and IF prevalence was high in the highest income quintiles in all countries and over the decades. For BF6-12, a decrease in inequality (prevalence increased in the highest quintile) was observed in Guatemala (SII1995 = −0·42; SII2015 = −0·28) and the Dominican Republic (SII1996 = −0·54; SII2013 = −0·26). Guatemala was the only country showing a decrease in inequality for BF (SII = −0·005; CIX = −0·0035) and an increase for IF (SII = 0·022; CIX = 0·01). Conclusions: The inequality in BF and IF remained over time. However, inequality in IF < 6 has decreased because low-income infants have increased use and high-income infants have decreased.

scholarly journals Prevalence and distribution of peripheral musculoskeletal manifestations in spondyloarthritis including psoriatic arthritis: results of the worldwide, cross-sectional ASAS-PerSpA study

RMD Open ◽  
2021 ◽  
Vol 7 (1) ◽  
pp. e001450
Author(s):  
Clementina López-Medina ◽  
Anna Molto ◽  
Joachim Sieper ◽  
Tuncay Duruöz ◽  
Uta Kiltz ◽  
...  
Keyword(s):  
Psoriatic Arthritis ◽  
Latin American ◽  
Underlying Disease ◽  
Cross Sectional Study ◽  
Joint Disease ◽  
Joint Involvement ◽  
Cross Sectional ◽  
Small Joint ◽  
Musculoskeletal Manifestations ◽  
Inflammatory Bowel

ObjectivesTo characterise peripheral musculoskeletal involvement in patients with spondyloarthritis (SpA) including psoriatic arthritis (PsA), across the world.MethodsCross-sectional study with 24 participating countries. Patients with a diagnosis of axial SpA (axSpA), peripheral SpA (pSpA) or PsA according to their rheumatologist were included. The investigators were asked which diagnosis out of a list of six (axSpA, PsA, pSpA, inflammatory bowel disease-associated SpA, reactive arthritis or juvenile SpA (Juv-SpA)) fitted the patient best. Peripheral manifestations (ie, peripheral joint disease, enthesitis, dactylitis and root joint disease), their localisation and treatments were evaluated.ResultsA total of 4465 patients were included (61% men, mean age 44.5 years) from four geographic areas: Latin America (n=538), Europe plus North America (n=1677), Asia (n=975) and the Middle East plus North Africa (n=1275). Of those, 78% had ever suffered from at least one peripheral musculoskeletal manifestation; 57% had peripheral joint disease, 44% had enthesitis and 15% had dactylitis. Latin American had far more often peripheral joint disease (80%) than patients from other areas. Patients with PsA had predominantly upper limb and small joint involvement (52%).Hip and shoulder involvement was found in 34% of patients. The prevalence of enthesitis ranged between 41% in patients with axSpA and 65% in patients with Juv-SpA. Dactylitis was most frequent among patients with PsA (37%).ConclusionThese results suggest that all peripheral features can be found in all subtypes of SpA, and that differences are quantitative rather than qualitative. In a high proportion of patients, axial and peripheral manifestations coincided. These findings reconfirm SpA clinical subtypes are descendants of the same underlying disease, called SpA.

Contribution of food groups to energy, grams and nutrients-to-limit: The Latin American Study of Nutrition and Health/Estudio Latino Americano de Nutrición y Salud (ELANS)

2021 ◽  
pp. 1-34
Author(s):  
Regina Mara Fisberg ◽  
Ana Carolina Barco Leme ◽  
Ágatha Nogueira Previdelli ◽  
Aline Veroneze de Mello ◽  
Angela Martinez Arroyo ◽  
...  
Keyword(s):  
Latin American ◽  
Saturated Fatty Acids ◽  
Food Sources ◽  
American Study ◽  
Food Groups ◽  
Latin American Study ◽  
Nutrition And Health ◽  
Cross Sectional ◽  
Added Sugars ◽  
Latin Americans

ABSTRACT Objective: To quantify the energy, nutrients-to-limit and total gram amount consumed, and identify their top food sources consumed by Latin Americans. Design: Data from The Latin American Study of Nutrition and Health (ELANS). Setting: ELANS is a cross-sectional study representative of eight Latin American countries: Argentina, Brazil, Chile, Colombia, Costa Rica, Ecuador, Peru, and Venezuela. Participants: Two 24h dietary recalls on non-consecutive days were used to estimate usual dietary intake of 9218 participants with ages between 15-65years. “What We Eat in America” food classification system developed by USDA was adapted and used to classify all food items consumed by the ELANS population. Food sources of energy, added sugars, saturated fatty acids (SFA), sodium and total gram amount consumed were identified and ranked based on percentage contribution to intake of total amount. Results: Three-highest ranked food categories of total energy consumed were: rice (10.3%), yeast breads (6.9%), and turnovers and other grain-based items (6.8%). Highest ranked food sources of total gram amount consumed were: fruit drinks (9.6%), other 100% juice (9.3%), and rice (8.3%). Three highest ranked sources for added sugars were: other 100% juice (24.1%), fruit drinks (16.5%), and sugar and honey (12.4%). SFA ranked foods were: turnovers and other grain-based (12.6%), cheese (11.9%), and pizza (10.3%). Three top sources of sodium were: rice (13.9%), soups (9.1%), and rice mixed dishes (7.3%). Conclusion: Identification of top sources of energy and nutrients-to-limit among Latin Americans is critical for designing strategies to help them meet nutrient recommendations within energy needs.

scholarly journals Inequalities in access to safe drinking water in Peruvian households according to city size: an analysis from 2008 to 2018

2021 ◽  
Vol 20 (1) ◽  
Author(s):  
Akram Hernández-Vasquéz ◽  
Carlos Rojas-Roque ◽  
Denise Marques Sales ◽  
Marilina Santero ◽  
Guido Bendezu-Quispe ◽  
...  
Keyword(s):  
Drinking Water ◽  
Latin American ◽  
Socioeconomic Inequalities ◽  
City Size ◽  
Infrastructure Development ◽  
Safe Drinking Water ◽  
Small Cities ◽  
Cross Sectional ◽  
Percentage Points ◽  
Latin American Region

Abstract Background Peru is one of the countries with the lowest percentage of population with access to safe drinking water in the Latin American region. This study aimed to describe and estimate, according to city size, socioeconomic inequalities in access to safe drinking water in Peruvian households from 2008 to 2018. Methods Secondary analysis of cross-sectional data using data from the 2008–2018 ENAHO survey. Access to safe drinking water, determined based on the presence of chlorinated water supplied by the public network, as well as socioeconomic variables were analyzed. A trend analysis from 2008 to 2018, and comparisons between 2008 versus 2018 were performed to understand and describe changes in access to safe drinking water, according to city size. Concentration curves and Erreygers concentration index (ECI) were estimated to measure inequalities in access to safe drinking water. Results In 2008, 47% of Peruvian households had access to safe drinking water, increasing to 52% by 2018 (p for trend < 0.001). For small cities, access to safe drinking water did not show changes between 2018 and 2008 (difference in proportions − 0.2 percentage points, p = 0.741); however, there was an increase in access to safe drinking water in medium (difference in proportions 3.3 percentage points, p < 0.001) and large cities (difference in proportions 12.8 percentage points, p < 0.001). The poorest households showed a decreasing trend in access to safe drinking water, while the wealthiest households showed an increasing trend. In small cities, socioeconomic inequalities showed an increase between 2008 and 2018 (ECI 0.045 and 0.140, p < 0.001), while in larger cities, socioeconomic inequality reduced in the same period (ECI: 0.087 and 0.018, p = 0.036). Conclusions We report a widening gap in the access to safe drinking water between the wealthiest and the poorest households over the study period. Progress in access to safe drinking water has not been equally distributed throughout the Peruvian population. Promoting and supporting effective implementation of policies and strategies to safe drinking water, including equity-oriented infrastructure development and resource allocation for most vulnerable settings, including emerging small cities, is a priority.

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