Medical students' knowledge about human papillomavirus (HPV), HPV vaccine and head and neck cancer.

The Human Papillomavirus (HPV) is a sexually transmitted infection that significantly affects the population worldwide. HPV preventive methods include vaccination, prophylactics, and education. Different types of cancers associated with HPV usually take years or decades to develop after infections, such as Head and Neck Cancer(HNC). Therefore, HPV prevention can be considered cancer prevention. A sample of medical students in Puerto Rico was evaluated to assess their knowledge about HPV, HPV vaccine, and HNC through two previously validated online questionnaires composed of 38 dichotomized questions, we measured HPV, HPV vaccination(HPVK), and HNC knowledge (HNCK). Out of 104 students surveyed, the mean HPVK score obtained was 20.07/26, SD = 3.86, while the mean score for HNCK was 6.37/12, SD = 1.78. Bidirectional stepwise regression showed study year and HPV Vaccine name had been the most influential variables on HPVK and HNCK. MS1 participants scored lower than MS2-MS4 participants, with no significant difference between MS2-MS4 scores. The results reveal knowledge gaps in HPV/HPV Vaccine and HNC among surveyed medical students. Our findings also suggest an association between knowledge of personal vaccination status, self-perceived risk, and how uncertainty in these factors may affect the medical students' understanding of HPV, HPV vaccination, and associated cancers.

Assessing Medical Students' Knowledge of the Deaf Culture and Community in Puerto Rico: A Descriptive Study.

BACKGROUND: Effective communication between health care professionals and Deaf and Hard of Hearing (D&HH) patients remains a challenge. Literature regarding health professionals' knowledge of the D&HH community and their barriers toward health care access is limited in Puerto Rico and suggests a need for research. Therefore, this descriptive study aims to evaluate future physician's knowledge about the Deaf culture and community in a student cohort at San Juan Bautista School of Medicine (SJBSM), with the objective of guiding our results toward improving our curriculum. METHODS: Medical students answered a survey to evaluate their knowledge of D&HH patients. The survey consisted of 3 parts testing awareness, exposure, and knowledge of the Deaf community. Responses from the Knowledge section were graded using an answer key, and correct answers were added to create an overall continuous sum score per participant, with higher scores meaning higher knowledge. Participants were also asked to write in possible issues deaf patients may face when hospitalized, apart from communication problems. All data were recorded and used for descriptive analysis. RESULTS: 158 (68%) medical students participated. 63% reported exposure to D&HH people, and 80% were aware of the Deaf culture. 21% of students answered to have attended an American Sign Language (ASL) class, and 86% expressed interest in taking an ASL class. The overall percentage of correct answers from all the medical groups evaluated was 39%, with increasing percent knowledge as medical student year increased. The most frequently listed problem by respondents that deaf patients may face when hospitalized was dealing with an emergency in the hospital, such as the fire alarm. CONCLUSION: Students from clinical years (MSIII & MSIV) showed a better understanding of the Deaf culture than students in pre-clinical years (MSI & MSII). Nevertheless, the knowledge was limited in all groups. The information generated is not only valuable for our school but the healthcare community as well. The literature related to Deaf culture, particularly in the medical setting in Puerto Rico, is limited. Therefore, there exists a need to continue investigating ways to improve medical students' education of the Deaf culture and community.

Implementation of Universal Colorectal Cancer Screening for Lynch Syndrome in Hispanics Living in Puerto Rico.

OBJECTIVE: Colorectal cancer is the leading cause of cancer death in Puerto Rico and third among Hispanics in the USA. Up to 2-4% of colorectal cancer cases are a result of Lynch syndrome (LS), a hereditary cancer syndrome caused by a germline mutation in at least one of the DNA mismatch repair genes. The objective of this study was to determine the prevalence of LS in colorectal tumors during the first 15-months after the implementation of universal tumor-based screening for LS in Puerto Rico. METHODS: A total of 317 colorectal tumors were evaluated in a large private pathology laboratory from September 2014 to December 2015. Clinical characteristics were obtained from the pathology reports. Unadjusted and adjusted logistic regression models were used to estimate the magnitude of association (odds ratio [OR] with 95% confidence intervals [CI]) between absent MMR protein expression and patient characteristics. RESULTS: Most cases (93.4%) were analyzed by immunohistochemistry; 11.8% (35 of 296) had deficient mismatch repair protein expression. While 29 of the 317 cases were subjected to PCR-based microsatellite instability analysis of which 10.3% (3 of 317) had microsatellite instability. In total, 11.0% of the tumors were reported MMR deficient. These tumors were more likely from females and more likely localized in the proximal colon compared to those with proficient MMR expression. CONCLUSIONS: Our data is consistent with the results from other studies including US Hispanics, where approximately 10% of Hispanic individuals with colorectal cancer have microsatellite instability. Our results support universal tumor-based screening for LS among Hispanics in accordance with National Comprehensive Cancer Network guidelines.

Improvement in Hispanics' CRC Knowledge and Awareness using the Inflatable Caribe Colon.

OBJECTIVE: Colorectal cancer (CRC) is the most common cause of cancer death in Puerto Rico (PR). CRC screening rates among PR Hispanics aged ≥ 50 years (57.5%) are below the Healthy People 2020 recommendations (70.5%). Low screening rates can be attributed to lack of education, and beliefs and knowledge about CRC screening procedures. This study evaluated the effectiveness of the Caribe Colon inflatable colon model in two community events as an educational tool to increase CRC knowledge, awareness, and intention to undergo CRC screening. METHODS: Participants (aged ≥ 40 years and with no previous CRC history) completed a pre- and post- questionnaire, and took the tour of the Caribe Colon. RESULTS: After completing the tour, survey responses (n=154) revealed a significant increase in CRC knowledge and awareness (p<0.0001). Multivariable logistic regression models showed that fear of CRC screening procedures was the primary independent factor for not getting screened after adjusting for age, gender, education, regular visits to a primary care physician, insurance, and history of CRC screening (p=0.006). CONCLUSION: Future studies should focus on understanding and reducing barriers to CRC screening including fear. Patients more knowledgeable about CRC screening procedures may have less fear for CRC screening. Furthermore, educational strategies need to be reinforced to reduce fear; this may lead to an increase in CRC screening rates among Hispanics.

Clinical profile and quality of life of Puerto Ricans with hereditary angioedema.

Background: There is limited data on clinical characteristics and quality of life (QoL) of Hereditary angioedema (HAE) patients in Puerto Rico. Objective: Create an epidemiological and clinical profile of patients with HAE and assess the burden of this condition on the general health of Puerto Ricans suffering the disease. Methods: A cross-sectional study was performed in 32 Puerto Rican patients with HAE. To obtain data on sociodemographic characteristics, clinical symptoms and treatment, a clinical survey based on a Spanish adaptation of the "HAEA Patient Summit Questionnaire 2015" was used. To measure QoL, the SF-36v2 questionnaire was used. IBM SPSS 22.0 (IBM, NY, USA) and QualityMetric Health Outcomes™ Scoring Software 4.5 was utilized for statistical analysis. Results: The most common type of HAE was Type I (41.9%). In 1 year, 32.3% of patients present 2-3 attacks per month. The most common locations were: abdomen and face. Seventy-eight percent of patient developed laryngeal edema but only 6.5% needed tracheotomy. Fifty-eight percent of patients were using prophylaxis therapy; C1 esterase inhibitor (68.7%) being the most common. Eighty-one percent of patients were using rescue medication; Icatibant (80.8%) being the most common. Compared with US population norms of quality of life, patients with HAE in Puerto Rico reported significantly lower scores, both in the physical component (62%) and in the mental components (58%). The most affected parameters were emotional (38.52), physical (39.19) and social (39.79) components. Gender differences were observed in our sample; females scored below males in all components except for general health. Conclusion: Puerto Rican Hispanics showed a similar epidemiologic and clinical profile to previous studies, however; higher frequency of attacks was prominent. Our study demonstrates a substantial and noteworthy decrease in quality of life in HAE patients and an increase risk for depression, particularly among woman.

High Prevalence of Human Papillomavirus in Colorectal Cancer in Hispanics: A Case-Control Study.

The role of Human Papillomavirus (HPV) in colorectal carcinogenesis remains elusive. Based on the high incidence of HPV-associated malignancies among Puerto Rican Hispanics, this study aimed to assess the prevalence of HPV infection and viral integration in colorectal tissues in order to evaluate its putative role in colorectal cancer (CRC). In this case-control study, the prevalence of HPV infection in CRC (cases n = 45) and normal colon mucosa from cancer-free subjects (controls n = 36) was assessed by a nested PCR strategy. HPV-16 genotyping was performed in HPV-positive tissues and the physical status of the HPV-16 genome was determined by E2 detection. HPV was detected in 19 of 45 (42.2%) CRC cases (mean age 61.1 ± 10.7 years, 24 males) and in 1 of 36 (2.8%) controls (mean age 60.9 ± 9.6 years, 24 males) with an OR = 25.58 (95% CI 3.21 to 203.49). HPV-16 was detected in 63.2% of the HPV-positive colorectal tumors; genome integration was observed in all HPV-16 positive cases. This is the first report showing the high prevalence of HPV infections in Caribbean Hispanic colorectal tumors. Despite evidence of HPV integration into the host genome, further mechanistic analysis examining HPV oncoprotein expression and the putative role of these oncoproteins in colorectal carcinogenesis is warranted.

Risk of thyroid cancer among Caribbean Hispanic patients with familial adenomatous polyposis.

Familial adenomatous polyposis (FAP) is an inherited form of colorectal cancer characterized by hundreds of adenomatous polyps in the colon and rectum. FAP is also associated with thyroid cancer (TC), but the lifetime risk is still unclear. This study reports the standardized incidence ratio (SIR) of TC in Hispanic FAP patients. TC incidence rates in patients with FAP between the periods of January 1, 2006 to December 31, 2013 were compared with the general population through direct database linkage from the Puerto Rico Central Cancer Registry (PRCCR) and the Puerto Rico Familial Colorectal Cancer Registry (PURIFICAR). The study population consisted of 51 Hispanic patients with FAP and 3239 with TC from the general population. The SIR was calculated using the Indirect Method, defined as observed TC incidence among patients with FAP in PURIFICAR's cohort (2006-2013) divided by the expected TC incidence based on the PR population rates (2006-2010). SIR values were estimated by sex (male, female, and overall). This study received IRB approval (protocol #A2210207). In Hispanic patients with FAP, the SIR (95% CI) for TC was 251.73 (51.91-735.65), with higher risk for females 461.18 (55.85-1665.94) than males 131.91 (3.34-734.95). Hispanic FAP patients are at a high risk for TC compared to the general population. Our incidence rates are higher than previous studies, suggesting that this community may be at a higher risk for TC than previously assumed. Implementation of clinical surveillance guidelines and regular ultrasound neck screening in Hispanic FAP patients is recommended.

Implementation and Outcomes of a Community-Based Educational Program for Colorectal Cancer Prevention in Hispanics.

OBJECTIVES: Colorectal cancer (CRC) is the 2nd most diagnosed cancer and leading cause of cancer death in Puerto Rico. However, CRC screening rates remain low. The aim of this study was to test the effectiveness of a Train-the-Trainers' (TTT) program to develop trainers capable of educating others within their communities about CRC prevention. METHODS: The TTT program consisted of didactics and seminars to capacitate participants to become trainers in CRC prevention. This project was evaluated using three components: (1) training workshops; (2) community educational sessions; and (3) the participant's experience as a trainer. Pre - and post-tests on CRC screening knowledge were given to TTT participants. Program effectiveness was determined by the pre- and post-tests, number of workshop participants completing a community educational session within three months of training and the number of community members reached. RESULTS: Among the 115 total participants, 97 participants took the pre- and post-test. There was a significant difference in the scores for the pre-test (M = 10.56, SD = 2.57) and the post-test (M = 11.43, SD = 1.83) given; t (96) = -4.68, p < 0.001. A total of 955 community members were reached. Participants from the community educational sessions (n = 680) evaluated the program. 77.7% of those participants expressed intent to undergo colonoscopy screening in the future. CONCLUSIONS: TTT was effective in preparing trainers in CRC prevention. Participants increased their knowledge about CRC prevention and successfully reached members of their community. Utilization of community trainers is an effective alternative to increase CRC education and awareness in Hispanic communities, which may positively impact CRC screening rates in this population.

Type 2 diabetes mellitus and colorectal neoplasia risk in Hispanics: a case-control study.

AIMS: There is inconclusive evidence regarding the potential link between diabetes mellitus (DM) and colorectal cancer (CRC). Associations between type 2 DM and colorectal neoplasia (CRN; colorectal cancer and/or adenomas) have not been well studied in Hispanics, an ethnic minority at high risk for type 2 DM. This study aims to assess the association between type 2 DM and CRN in Hispanics. METHODS: Hispanics with incident CRN and colonoscopy-negative controls from 2005 to 2009 were evaluated. Diagnosis of type 2 DM was established by previous medical diagnosis and/or use of DM treatments. Unconditional logistic regression was performed to estimate odds ratios for the association between type 2 DM and CRN. RESULTS: A total of 451 participants (mean age 61.1±11.9years, 59.6 % men) were evaluated (218 with incident CRC, 77 with colorectal adenomas, and 156 colonoscopy-negative controls). The prevalence of type 2 DM in this study was 25.1%. After adjusting for potential confounding variables, women with type 2 DM were 2.74 (95% CI: 0.94-7.99) times more likely to have CRN and 4.83 times more likely to present with proximal colonic CRN (95% CI: 1.25-18.58) than women without type 2 DM. No statistically significant associations were found between type 2 DM and CRN among men. CONCLUSIONS: An increased odds for CRN and proximal location of CRN was observed among Hispanic women with type 2 DM. Since DM is a highly prevalent disease in this population, adherence to routine CRC screening is of outmost importance.

Clinical characterization and mutation spectrum in Caribbean Hispanic families with Lynch syndrome.

Lynch syndrome (LS) is an inherited form of colorectal cancer (CRC) caused by germline mutations in the mismatch repair (MMR) genes. It accounts for approximately 5% of all CRCs. The prevalence of LS among US Hispanics is unknown. The objective of this study was to describe the germline mutations of LS in Caribbean Hispanics from Puerto Rico and Dominican Republic. A total of 89 subjects were recruited through the Puerto Rico Familial Colorectal Cancer Registry and were classified according to Amsterdam and Bethesda clinical guidelines. For those tumors with lack of expression of MMR protein, gene sequencing was ordered. A total of 35 individuals with deficient MMR system were identified: 22 had MMR mutations and 13 had tumors with absent MMR protein expression. Our results show that the mutation spectrum of Caribbean Hispanic LS patients was composed mostly of MSH2 (66.7%) mutations, followed by MLH1 (25.0%). One mutation was identified in MSH6 (8.3%). A previously unidentified mutation in MLH1 gene c.2044_2045del was found in one Caribbean Hispanic family. MMR mutation-positive individuals were found to be more likely to have a prominent family history of CRC and tumors located at the proximal colon. Compared to MSH2 mutation carriers, MLH1 mutation-positive individuals were more likely to have a strong family history of CRC and LS associated cancers. Furthermore, insurance coverage for genetic testing was found to be limited in the study population with 65.1% of the individuals recruited were denied coverage. This report presents the first description of the mutation spectrum and clinicopathologic characteristics of LS Caribbean Hispanics patients.

Report of a Novel Mutation in MLH1 Gene in a Hispanic Family from Puerto Rico Fulfilling Classic Amsterdam Criteria for Lynch Syndrome.

In Puerto Rico, colorectal cancer (CRC) represents the second leading cause of cancer in men and women. Familial CRC accounts for 10-15% of the total CRC cases, while Lynch syndrome accounts for approximately 2-4% of cases. Limited information is available about the prevalence, clinical manifestations, and genetic mutations of hereditary CRC in US Hispanic individuals. In this paper we report a novel mutation in the hMLH1 gene in a Puerto Rican Hispanic family with Lynch syndrome recruited through the Puerto Rico Familial Colorectal Cancer Registry (PURIFICAR). Our proband was identified by applying Amsterdam and Bethesda criteria for Lynch syndrome, analysis of protein expression by immunohistochemistry, and genetic sequencing of the mismatch repair genes. A novel mutation at c.2044_2045 in hMLH1 consisting of the deletion of two consecutive nucleotides (AT) at exon 18 was identified. This deletion causes a frameshift in the protein coding sequence at p.682 resulting in premature termination and a truncated MLH1 protein. To our knowledge, this mutation has not been previously reported in the literature. The detection of this novel mutation in MLH1 further emphasizes the need for genetic testing in at-risk patients for hereditary CRC from various ethnic and racial backgrounds.

Clinical characterization and mutation spectrum in Hispanic families with adenomatous polyposis syndromes.

Several genetically defined hereditary colorectal cancer (CRC) syndromes are associated with colonic polyposis including familial adenomatous polyposis (FAP) and MUTYH adenomatous polyposis (MAP). Limited data exists on the clinical characterization and genotypic spectrum of polyposis syndromes among Hispanics. To describe the phenotype and genotype of Puerto Rican Hispanic patients with FAP and MUTYH and compare with other ethnic and racial groups. Probands were identified from the Puerto Rico Familial Colorectal Cancer Registry (PURIFICAR). Recruited individuals completed risk factors, medical, and family history questionnaires and underwent genetic testing for genotype analysis. Frequency analysis, Chi square, Fisher's exact and Wilcoxon rank-sum tests were used for statistical analysis methods. A total of 31 FAP (from 19 families) and 13 MAP (from 13 families) Hispanic patients recruited from the PURIFICAR were evaluated. Among the FAP cases, mean age at diagnosis was 27.6 (range 9-71 years); 67.7 % cases had more than 100 polyps and 41.9 % had upper gastrointestinal polyps. Among the 19 FAP families, there were 77 affected FAP individuals and 26 colorectal cancer cases. Genetic mutations were available for 42.2 % of FAP families; all mutations identified were unique. Surgeries were reported in 31 cases; 14 (45.2 %) prophylactic surgeries and 6 (19.4 %) therapeutic surgeries for management of CRC. Among MAP cases, mean age at diagnosis was 53 (range 34-76 years). Genetic analysis revealed homozygous biallelic mutations (G382D) in 53.8 %, compound heterozygous mutations (G382/Y165C) in 23 %, and non-G382/Y165C monoallelic mutations in 23 %. Familial cancer registries should be promoted as vehicles for detection, education and follow up of families at-risk of acquiring familial cancers. PURIFICAR is the first and only familial cancer registry in Puerto Rico providing these services to families affected with familial cancer syndromes promoting education, testing and surveillance of at-risk family members, and focusing on cancer prevention efforts. The fact that only 40 % of FAP patients had access to genetic testing stresses the need to promote the establishment of policies supporting genetic testing coverage by medical insurance companies in order to provide patients with the highest standard of care to prevent cancer. Furthermore, our results suggest that Hispanics may have uncommon mutations in adenomatous polyposis related genes, which emphasize the need for full gene sequencing to establish genetic diagnosis.