non-Hispanic Caucasian Patients Research Articles

Utility of a bone health clinic in bridging the osteoporosis care gap: Prescribing habit review at an academic institution.

To analyze osteoporosis medication prescribing trends across specialties in the context of a Bone Health Clinic. Osteoporosis affects over 10 million adults in the US, taking a significant toll on patients and the healthcare system. Although screening methods and treatments are improving, the disease remains underdiagnosed and undertreated. This study aims to evaluate the prescribing trends of osteoporosis medication among department specialties to delineate the benefits of a bone health clinic. Retrospective data collection identified and analyzed patients within the Penn State Health system prescribed one of the following osteoporosis medications: Bisphosphonate, denosumab, romosozumab, teriparatide, abaloparatide, or raloxifene. Date range: 4/18/2016 to 4/14/2021. Data collection identified the specialty origin of prescriptions for osteoporosis medications across various medical specialties (e.g., orthopaedics, family medicine, and internal medicine). 10,736 prescription orders were issued to patients with an average age of 68 years. Non-Hispanic Caucasian patients received 88.6% of prescriptions, followed by Asian (3.4%) and African American (2.2%). Female patients accounted for 87.8% of all prescriptions. The Bone Health Clinic under two orthopaedic providers wrote 3,619 prescriptions, averaging 361.9 prescriptions per provider per year-marking the highest rate among specialties. The clinic prescriptions constituted 33.7% of all prescriptions across specialties. Orthopaedic surgery prescribed the most denosumab, romosozumab, teriparatide, and abaloparatide prescriptions, and had the highest number of male osteoporosis patients compared to other specialties (15.6%), consequently prescribing the most male prescriptions (578). Establishing a bone health clinic dedicated to osteoporosis management leads to significantly higher prescription rates per provider, increased utilization of anabolic therapies compared to other specialties, and more male patients being treated-an often-neglected population in osteoporosis.

Racial disparities in ALS diagnostic delay: a single center's experience and review of potential contributing factors.

Outcomes for amyotrophic lateral sclerosis (ALS) patients are improved with prompt diagnosis, earlier initiation of disease-modifying treatments, and participation in a multidisciplinary clinic. We studied diagnostic delay and disease severity at time of clinic presentation between Black and non-Hispanic Caucasian ALS patients. We performed a retrospective analysis of non-Hispanic Caucasian and Black ALS patients seen in the Virginia Commonwealth University Health System multidisciplinary ALS clinic between 2017 and 2023. Diagnostic delay, ALS Functional Rating Scale-Revised (ALSFRS-R) and upright forced vital capacity (FVC) scores at baseline appointment were collected. Patient's distance from clinic and affluency of residential neighborhood were evaluated. We analyzed 172 non-Hispanic Caucasian and 33 Black ALS patients. Black patients had a 64% increase in diagnostic delay compared to non-Hispanic Caucasian patients. Black patients had a lower performance on ALSFRS-R (5.3 points, p < 0.001) and FVC (17.9 percentage points p < 0.001) at time of first clinic visit. Black patients lived closer to clinic, with higher proportion living in the city of Richmond, but in less affluent areas with lower median house income ($55,300 ± 22,600 vs $69,900 ± 23,700). Our findings demonstrate a large racial difference in ALS diagnostic delay, and greater disease severity and lower respiratory function at time of diagnosis for Black ALS patients. Delay in diagnosis prolongs access to disease-modifying therapies, multidisciplinary care, durable medical equipment, and respiratory and nutritional support. Potential sources of these racial disparities include providers' implicit bias and structural racism.

PD20-10 ETHNIC DISPARITIES IN CLINICAL PRESENTATION AND SURGICAL OUTCOMES FOR HISPANIC PATIENTS WITH LOCALIZED RENAL MASSES

You have accessJournal of UrologyCME1 Apr 2023PD20-10 ETHNIC DISPARITIES IN CLINICAL PRESENTATION AND SURGICAL OUTCOMES FOR HISPANIC PATIENTS WITH LOCALIZED RENAL MASSES Teona Iarajuli, Jennifer Nguyen, Ruth Sanchez De La Rosa, Tanner Corse, Jacquelyn Roth, Hunter Halsey, Martin Malik, Fahad Sheckley, Suzannah Sorin, Simon Gelman, Mubashir Billah, Gregory Lovallo, Ravi Munver, Mutahar Ahmed, and Michael Stifelman Teona IarajuliTeona Iarajuli More articles by this author , Jennifer NguyenJennifer Nguyen More articles by this author , Ruth Sanchez De La RosaRuth Sanchez De La Rosa More articles by this author , Tanner CorseTanner Corse More articles by this author , Jacquelyn RothJacquelyn Roth More articles by this author , Hunter HalseyHunter Halsey More articles by this author , Martin MalikMartin Malik More articles by this author , Fahad SheckleyFahad Sheckley More articles by this author , Suzannah SorinSuzannah Sorin More articles by this author , Simon GelmanSimon Gelman More articles by this author , Mubashir BillahMubashir Billah More articles by this author , Gregory LovalloGregory Lovallo More articles by this author , Ravi MunverRavi Munver More articles by this author , Mutahar AhmedMutahar Ahmed More articles by this author , and Michael StifelmanMichael Stifelman More articles by this author View All Author Informationhttps://doi.org/10.1097/JU.0000000000003286.10AboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissionsReprints ShareFacebookLinked InTwitterEmail Abstract INTRODUCTION AND OBJECTIVE: We aim to determine if Hispanic patients differed in clinical presentation and surgical management of renal masses compared to Non-Hispanic Caucasian patients in our Northern New Jersey catchment area. METHODS: We utilized an IRB-approved renal mass database including 1017 patients who underwent partial or radical nephrectomy at our institution between May 2017 and April 2022. We evaluated 1017 patients who identified as either “Hispanic” or “Non-Hispanic Caucasian.” Continuous data was analyzed using the Wilcoxon Rank Sum test. Categorical data was analyzed using Chi-Squared and Fisher's Exact Tests where appropriate. RESULTS: 134 patients (13.18%) self-identified as Hispanic and 883 (86.82%) identified as Non-Hispanic Caucasian (Table 1). In terms of presentation, Hispanic patients were significantly younger on average (56.95 vs 63.92, p=0.0000), more likely to be female (48.51% vs 33.64%, p=0.0001), and less likely to have a history of tobacco use (29.10% vs 43.57%, p=0.018). Hispanic patients had lower incidences of coronary vascular disease (1.491% vs 6.0%, p=0.0315) and chronic kidney disease prior to undergoing surgery (16.39% vs 24.47%, p=0.0158). There was no significant difference in rates of undergoing radical nephrectomy between the two groups (29.66% vs 24.5%, p=0.6212). There was no significant difference in changes from baseline preoperative eGFR (-11.99 vs -13.31 mL/min/1.73 m2, p=0.6012). Additionally, there was no significant difference in the rate of major complications (1.63% vs 2.29%, p=1.0), readmissions (6.67% vs 4.96%, p=0.4328), or mortality (2.99% vs 2.27%, p=1.000). CONCLUSIONS: In our Northern New Jersey population, we found that Hispanic patients presented with renal masses at younger ages with less comorbidities and less prior tobacco use in comparison to Non-Hispanic Caucasian patients. We did not identify significant differences in surgical management, perioperative or long-term outcomes between these cohorts. Our findings suggest that high volume, quaternary medical centers may reduce inequalities in access to care for patients from ethnic minorities. Source of Funding: No funding © 2023 by American Urological Association Education and Research, Inc.FiguresReferencesRelatedDetails Volume 209Issue Supplement 4April 2023Page: e588 Advertisement Copyright & Permissions© 2023 by American Urological Association Education and Research, Inc.MetricsAuthor Information Teona Iarajuli More articles by this author Jennifer Nguyen More articles by this author Ruth Sanchez De La Rosa More articles by this author Tanner Corse More articles by this author Jacquelyn Roth More articles by this author Hunter Halsey More articles by this author Martin Malik More articles by this author Fahad Sheckley More articles by this author Suzannah Sorin More articles by this author Simon Gelman More articles by this author Mubashir Billah More articles by this author Gregory Lovallo More articles by this author Ravi Munver More articles by this author Mutahar Ahmed More articles by this author Michael Stifelman More articles by this author Expand All Advertisement PDF downloadLoading ...

Differences in tumor sequencing across ethnic groups in the treatment of endometrial cancer

<h3>Objectives:</h3> We aimed to identify ethnic differences in genetic mutations associated endometrial cancer (EC), as well as differences in the utilization of sequencing results to direct disease treatment based on actionable mutations among different ethnic groups. <h3>Methods:</h3> Patients of interest were identified using the EMERSE program. Inclusion criteria included patients with endometrial cancer who underwent solid tumor genomic sequencing between the dates of April 2014 and January 2019 at our institution. Patients meeting the inclusion criteria with verifiable tumor sequencing results were included in our retrospective cohort. Patients were excluded if they had synchronous cancers and germline or non-solid tumor testing only. Clinical information was abstracted from the medical record. Differences between groups were calculated using descriptive statistics. <h3>Results:</h3> 287 patients met inclusion criteria. The majority of patients who underwent genomic sequencing of their tumors were non-Hispanic Caucasian (n=212, 73.9%), followed by non-Hispanic African American (n=55, 19.2%) and Hispanic (n=6, 2.1%), a distribution that accurately reflects the ethnic makeup of our state population. Among patients who underwent tumor sequencing, non-Hispanic Caucasian patients had an 82% likelihood (n=174) of having an actionable mutation, whereas non-Hispanic African American patients had a 60% likelihood (n=33) (p<0.001). PTEN (n=107, 80.5%, p<0.001) and FGFR2 (n=28, 95.8%, p=0.04) mutations were found at a higher rate in non-Hispanic Caucasian patients. When controlling for histological subtypes, however, ethnic variations in these mutations were no longer significant. FBXW7 mutations (n=4, 40%, p=0.03) were found to occur at a lower rate in non-Hispanic African American patients. No significant differences in the rates of genetic mutations were found in Hispanic, Asian, or American Indian/Native Alaskan patients. 21 patients received targeted treatments based on sequencing results. Among ethnic groups, 9.8% (n=17) of non-Hispanic Caucasian and 12.1% (n=4) of non-Hispanic African American patients were initiated on targeted treatments (p=0.68). The majority of patients receiving targeted therapy had endometrioid histology (n=11, 52.4%), followed by carcinosarcoma (n=5, 23.8%) and serous (n=4, 19.0%) histology. <h3>Conclusions:</h3> Genomic sequencing of solid tumors was utilized in a high percentage of patients with endometrial cancer. When examining ethnic groups, no disparate use of tumor sequencing was found. Similar actionable mutations were seen across ethnic groups when controlling for tumor histology. Overall, utilization of tumor sequencing results to personalize care was used at a low rate among patients with actionable mutations across ethnic groups. This underutilization highlights the need for the continued development of efficacious, targeted therapies for endometrial cancer.

Health Disparities among adults cared for at an urban cystic fibrosis program

BackgroundEvidence is conflicting regarding differential health outcomes in racial and ethnic minorities with cystic fibrosis (CF), a rare genetic disease affecting approximately 28,000 Americans. We performed a cross-sectional analysis of health outcomes in Black/Latinx patients compared with non-Hispanic Caucasian patients cared for in a CF center in New York City. Adult patients enrolled in the CF Foundation Patient Registry at the Columbia University Adult CF Program and seen at least once during 2019 were included. Health metrics were compared between Black/Latinx and non-Hispanic Caucasian patients.Results262 patients were eligible. 39 patients (15%) identified as Black/Latinx or non-Hispanic Caucasian. Descriptive statistics are reported with mean (standard deviation). Current age was 35.9 (13.3) years for non-Hispanic Caucasian and 32.0 (9.3) years for Black/Latinx patients (p = 0.087). Age of diagnosis did not differ between groups; 9.56 (15.96) years versus 11.59 (15.8) years for non-Hispanic Caucasian versus Black/Latinx respectively (p = 0.464). Pulmonary function, measured as mean forced expiratory volume in one second (FEV1) was 70.6 (22.5) percent predicted in non-Hispanic Caucasian versus 59.50 (27.9) percent predicted in Black/Latinx patients (p = 0.010). Number of visits to the CF clinic were similar between groups. When controlled for age, gender, co-morbidities, median income, and insurance status, there was a continued association between minority status and lower FEV1.ConclusionsMinorities with CF have significantly lower pulmonary function, the major marker of survival, than non-Hispanic Caucasians, even when controlled for a variety of demographic and socioeconomic factors that are known to affect health status in CF. Significant health disparities based on race and ethnicity exist at a single CF center in New York City, despite apparent similarities in access to guideline based care at an accredited CF Center. This data confirms the importance of design of culturally appropriate preventative and management strategies to better understand how to direct interventions to this vulnerable population with a rare disease.

Epidemiology and prognostic factors of pediatric brain tumor survival in the US: Evidence from four decades of population data

Brain tumors, a group of heterogeneous diseases, are the second most common cancer and the leading cause of cancer-related deaths in children. Insight into the prognosis of pediatric brain tumor survival has led to improved outcomes and could be further advanced through precision in prognosis. We analyzed the United States SEER population-based dataset of 15,723 pediatric brain tumor patients diagnosed and followed between 1975 and 2016 using a stratified Cox proportional hazards model. Mortality risk declined with increased age at diagnosis, the adjusted hazard ratio (aHR) (95 % confidence interval) was 0.60 (0.55, 0.67) and 0.47 (0.42, 0.52) for ages at diagnosis 1–10 years and 10−19 years, respectively, when compared with infants. Non-Hispanic Caucasian patients showed a lower risk of mortality than non-Hispanic African Americans (1.21 (1.11, 1.32)) and Hispanics (1.21 (1.11, 1.32)). Primary tumor sites, grades, and histology showed substantial heterogeneity in mortality risk. Brainstem (2.62 (2.41, 2.85)) and Cerebrum (1.63 (1.46, 1.81)) had an elevated risk of mortality than lobes. Similarly, Grade II (1.32 (1.07, 1.62)), Grade III (3.39 (2.74, 4.19)), and Grade IV (2.18 (1.80, 2.64)) showed an inflated risk of mortality than Grade I. Compared to low-grade glioma, high-grade glioma (7.92 (7.09, 8.85)), Primitive neuroectodermal tumors (4.72 (4.15, 5.37)), Medulloblastoma (3.11 (2.79, 3.47)), and Ependymal-tumors (2.20 (1.95, 2.48)) had increased risk of mortality. County-level poverty and geographic region showed substantial variation in survival. This large population-based comprehensive study confirmed identified prognostic factors of pediatric brain tumor survival and provided estimates as epidemiologic evidence with greater generalization.

Outcomes in Hispanics With COVID-19 Are Similar to Those of Caucasian Patients in Suburban New York.

BackgroundDespite reported higher rates and worse outcomes due to COVID‐19 in certain racial and ethnic groups, much remains unknown. We explored the association between Hispanic ethnicity and outcomes in COVID‐19 patients in Long Island, New York.MethodsWe conducted a retrospective cohort study of 2,039 Hispanic and non‐Hispanic Caucasian patients testing positive for SARS‐CoV‐2 between March 7 and May 23, 2020, at a large suburban academic tertiary care hospital near New York City. We explored the association of ethnicity with need for intensive care unit (ICU), invasive mechanical ventilation (IMV), and mortality.ResultsOf all patients, 1,079 (53%) were non‐Hispanic Caucasians and 960 (47%) were Hispanic. Hispanic patients presented in higher numbers than expected for our catchment area. Compared with Caucasians, Hispanics were younger (45 years vs. 59 years), had fewer comorbidities (66% with no comorbidities vs. 40%), were less likely to have commercial insurance (35% vs. 59%), or were less likely to come from a nursing home (2% vs. 10%). In univariate comparisons, Hispanics were less likely to be admitted (37% vs. 59%) or to die (3% vs. 10%). Age, shortness of breath, congestive heart failure (CHF), coronary artery disease (CAD), hypoxemia, and presentation from nursing homes were associated with admission. Male sex and hypoxemia were associated with ICU admission. Male sex, chronic obstructive pulmonary disease, and hypoxemia were associated with IMV. Male sex, CHF, CAD, and hypoxemia were associated with mortality. After other factors were adjusted for, Hispanics were less likely to be admitted (odds ratio = 0.62, 95% confidence interval = 0.52 to 0.92) but Hispanic ethnicity was not associated with ICU admission, IMV, or mortality.ConclusionsHispanics presented at higher rates than average for our population but outcomes among Hispanic patients with COVID‐19 were similar to those of Caucasian patients.

259. Racial Differences in Clinical Phenotype and Hospitalization of Blastomycosis Patients

BackgroundDimorphic fungal infections, such as blastomycosis, cause significant morbidity and mortality. Most studies describing blastomycosis have focused on non-Hispanic Caucasians and our understanding of the clinical presentation and outcomes for patients of other race/ethnicities is limited. We evaluated whether clinical presentation and disease severity varied across racial/ethnic groups.MethodsBlastomycosis patients were identified from Marshfield Clinic Health System and patient data were abstracted from electronic medical records. Blastomyces genotyping was performed for cases with available isolates. Univariate analyses using χ 2 tests and multivariate logistic regression modeling were used to determine the association of race/ethnicity with clinical presentation. Significance was defined as P ≤ 0.05.ResultsIn total 477 patients were included.Age differences were observed across race/ethnicity categories (P < 0.0001). Non-Hispanic, Caucasians were oldest (47 years, SD 20) and Asians were the youngest (30 years, SD 18). Underlying medical conditions were more common in non-Hispanic Caucasians (55%) and African Americans (AA) (52%) than Hispanic Caucasians (27%) and Asians (29%, P = 0.0002). Risk for hospitalization was highest for Hispanic Caucasian (aOR 2.9, 95% CI 1.2–1.7), American Indian Alaskan Native (AIAN) (aOR = 2.4; 95% CI 1.0–5.5), and Asian (aOR = 1.9; 95% CI 1.0–3.6) patients when compared with non-Hispanic Caucasian patients. Ninety percent of B. dermatitidis infections occurred in non-Hispanic Caucasians whereas blastomycosis in Hispanic Caucasian, AIAN, and Asian patients was frequently caused by B. gilchristii (P < 0.0001).ConclusionHispanic Caucasian, AIAN, and Asian blastomycosis patients were younger and healthier, but more frequently hospitalized. Patients in these racial/ethnic groups may need more aggressive treatment and closer therapeutic monitoring. Underlying host factors along with organism virulence likely play a role in these differences.Disclosures All authors: No reported disclosures.

P760Clinical profile of African-American and non-Hispanic caucasian patients with Takotsubo cardiomyopathy syndrome in a large urban hospital in the United States of America

Abstract Background Takotsubo (stress) cardiomyopathy is an acute reversible heart failure syndrome initially described in Japanese patients, but now well characterized in Caucasians patients in Europe or of European descent. An initial observation has suggested a lower incidence of Takotsubo in non-Caucasian subjects, particularly in the African-American (AA) population in the United States of America. The purpose of this study was to assess whether epidemiologic and clinical differences were present in Takotsubo in a large urban hospital in Virginia, USA. Methods We used an informatics-based system to query electronic health records (TriNetX, Cambridge, MA, USA) to search for cases of Takotsubo between 2010 and 2018 and a corresponding cohort of patients with non-ST segment elevation acute myocardial infarction (NSTEMI). We then performed a chart-level review of 160 cases and obtained additional clinical information including symptoms, risk factors, co-morbidities, and in-hospital outcomes. This retrospective study was approved by the Institutional Review Board of our institution. Results We identified 260 cases of Takotsubo and 6,270 of NSTEMI in the same time period (1:24, 4.2%). Being AA was associated with an odds ratio of Takotsubo versus NSTEMI of 0.38 [0.29–0.50] (P=0.0001). With further evaluation of patients with Takotsubo (N=160), AA (N=44, 27.2%) and Non-Hispanic Caucasian (C) (N=110, 67.9%) had no differences in age and sex. AA patients with Takotsubo however were more likely than C patients to be affected by type II diabetes mellitus (38.6% versus 14.5%, P=0.002, OR 3.70 [1.65–8.28]), have history of drug abuse (27.3% versus 9.1%, P=0.009, OR 3.75 [1.48–9.49]) and of cocaine use in particular (9.1% versus 0.9%, P=0.024, OR 11.0 [1.19–101.4]). The pattern of wall motion abnormality was not different between the 2 groups. AA patients presented with a lower ratio of brain natriuretic peptide (BNP) to troponin I (41.9 [12.7–258] pg./ml versus 281 [42–890] pg/ml, P=0.022). There was no significant difference of in-hospital mortality between the AA and C groups (9.1% versus 25%, respectively, OR 0.40 [0.13–1.24], P=0.11). Conclusions The incidence and clinical characteristics of Takotsubo (stress) cardiomyopathy appear to be different between African-American and Non-Hispanic Caucasian patients. African-American patients are more likely to have diabetes and illicit drug usage, but have a lower BNP/troponin I ratio. Both AA and Non-Hispanic Caucasian patients have similar in-hospital mortality.

Description of tobacco use and cessation among Bhutanese refugees participating in a tobacco cessation program

ABSTRACTObjectives. To compare the tobacco use, exposure, and cessation differences between Bhutanese refugee and non-Hispanic Caucasian tobacco users in a US federally qualified health center tobacco cessation program.Design. A retrospective cohort study reviewing data from 374 patients counseled on tobacco cessation was performed. Demographic information, tobacco use history, exposure to tobacco, and type of tobacco used characterized baseline assessments. The patient record was followed forward in time to evaluate tobacco cessation outcomes as the dependent variable. Data were analyzed using odds ratios and the Mann–Whitney U-test.Results. Data analysis included 318 patients (211 non-Hispanic Caucasian patients and 107 Bhutanese refugee patients). Bhutanese refugees demonstrated a higher likelihood of smokeless tobacco product use than the non-Hispanic Caucasian population (67.3% vs 1%, OR = 214.971, 95% CI 50.429, 916.383), and a greater odds of having household tobacco users (OR = 2.533, 95% CI 1.532, 4.186). Likewise, the non-Hispanic Caucasian population exhibited larger odds of smoking cigarettes vs the Bhutanese population (97.2% vs 26.2%, OR = 96.399, 95% CI 38.449, 241.687), had a higher odds of passive smoke exposure (OR = 12.765, 95% CI 5.36, 30.393), and higher likelihood of a past quit attempt (OR = 9.037, 95% CI 5.180, 15.765). Significant gender differences with regard to type of tobacco used were noted among Bhutanese refugees. Bhutanese refugees demonstrated significantly higher likelihood of tobacco cessation, compared with the non-Hispanic Caucasian population, at all length cutpoints, while showing no difference in number of follow-up visits or median time followed.Conclusion. These culture-specific findings, showing unique tobacco use characteristics and increased cessation among the Bhutanese refugee population, provide novel information helpful to professionals identifying and treating these individuals for tobacco cessation. More research is needed to confirm our results and findings.

Abstract 2776: Codon 72 and Intron-3 polymorphisms in TP53 are risk factors for breast cancer

Abstract Purpose: A single nucleotide polymorphism (SNP) in exon-4 of the TP53 gene (Arg72Pro) has been associated with an increased risk of developing various human malignancies. Since a 16-base pair polymorphism (insertion/duplication) intron-3 (PIN3) is in linkage disequilibrium with Arg72Pro of TP53, we assessed whether these two polymorphisms serve as breast cancer risk alleles for African Americans (AAs) and non-Hispanic Caucasians (CAs). Methods: Genomic DNA was extracted from formalin-fixed, paraffin-embedded invasive ductal carcinoma tissues [cases, n = 120 (AAs = 55 and CAs = 65)] and from blood of healthy women [controls, n = 152 (AA = 74 and CAs = 78)]. Exon-4 of TP53 was amplified by PCR using exon-specific primers, followed by Sanger sequencing. Identification of SNP was done by using DNASTAR software. TP53 PIN3 polymorphism was detected by amplifying genomic DNA using specific primers followed by gel electrophoresis. The A1 allele (no duplication) resulted in 162 bp fragment and the A2 allele (with 16 bp duplication) resulted in 178 bp fragment. The phenotypes of Arg72Pro (Arg/Arg, Arg/Pro, and Pro/Pro) were correlated with PIN3 status, clinicopathologic features, race/ethnicity, and patient survival using the χ2 test and Kaplan-Meier analyses. A p value of &amp;lt;0.05 was considered statistically significant. Results: In cases, the Arg/Arg/, Pro/Arg, and Pro/Pro phenotypes were 15%, 31%, and 55% in AAs and 57%, 29%, and 14% in CAs (p&amp;lt;0.001), respectively. A similar distribution was observed in controls (16%, 42%, and 42% in AAs and 56%, 37%, and 6% in CAs) (p&amp;lt;0.001). When compared to ER positive, a higher frequency of Arg/Pro or Pro/Pro was noted in estrogen-negative breast cancers (p = 0.03) in both racial groups. However, no significant survival difference in these racial groups was observed when Pro carriers were compared with Arg/Arg cases (log rank, p = 0.565). Frequencies of PIN3 polymorphisms (A1A1, A1A2, and A2A2) were similar in both cases and controls; however, overall A1A1 frequency was higher than the other two genotypes of PIN3. The phenotype Pro/Pro, was strongly associated with A1A1 polymorphism in both racial groups of breast cancer patients (p&amp;lt;0.000078). Conclusion: These preliminary findings suggest that Arg72Pro polymorphism and PIN3 in TP53 are related with higher breast cancer susceptibility for both African American and non-Hispanic Caucasian patients. This work was supported by a pilot grant from UAB Breast SPORE grant of the National Institutes of Health/National Cancer Institute (5P50CA089019). Citation Format: Trafina Jadhav, Jesus Salazar-Gonzalez, Shantel Hebert-Magee, Michael Behring, Balananda-Dhurjati Putcha, Jeehyun Helen Bae, Andra Frost, Isam-Eldin Eltoum, Sejong Bae, Upender Manne. Codon 72 and Intron-3 polymorphisms in TP53 are risk factors for breast cancer. [abstract]. In: Proceedings of the 106th Annual Meeting of the American Association for Cancer Research; 2015 Apr 18-22; Philadelphia, PA. Philadelphia (PA): AACR; Cancer Res 2015;75(15 Suppl):Abstract nr 2776. doi:10.1158/1538-7445.AM2015-2776

Age at diagnosis predicts deterioration in glycaemic control among children and adolescents with type 1 diabetes

BackgroundPoor glycemic control early in the course of type 1 diabetes mellitus (T1DM) increases the risk for microvascular complications. However, predictors of deteriorating control after diagnosis have not been described,...

Hospital Discharge Destinations for Hispanic and Non-Hispanic Caucasian Patients Treated for Traumatic Brain Injury

Hospital Discharge Destinations for Hispanic and Non-Hispanic Caucasian Patients Treated for Traumatic Brain Injury

Abstract 1152: Clinical relevance of elevated microsatellite alterations at selected tetranucleotide repeats in colorectal adenocarcinomas

Abstract Purpose: Elevated microsatellite alterations at selected tetranucleotide repeats (EMAST) are frequently observed in various cancers, including colorectal cancers (CRCs). The incidence of EMAST and its clinical relevance with respect to patient race, however, have not been studied. Therefore, we assessed the frequency and clinical relevance of EMAST and microsatellite instability (MSI) in African-American (AA) and non-Hispanic Caucasian (NHCA) CRC patients. Methods: We analyzed 166 CRCs, collected from the University of Alabama at Birmingham and Grady Memorial hospitals. The EMAST and MSI status of the CRCs was evaluated using seven tetranucleotide microsatellite markers (MYCL1, D8S321, D9S242, D9S747, D20S82, D20S85, L17686) and five National Cancer Institute-recommended MSI markers (BAT25, BAT26, D2S123, D5S346, D17S250). This was accomplished by polymerase chain reactions using marker-specific primers. The status for EMAST and MSI was considered positive if at least two EMAST- or MSI-specific loci were found to be unstable. The EMAST and MSI phenotypes were correlated with clinicopathologic features and patient survival. Results: The overall incidence of EMAST was 46% (77 of 166 cases); AA patients had a higher incidence (62 of 124, 50%) relative to NHCA patients (15 of 42, 36%). Analyses based on tumor location and patient race showed that, for AAs, EMAST was more common in colonic tumors (60 of 114, 53%) than in tumors of NHCAs (10 of 32, 31%). In contrast, only 20% of rectal tumors in AAs (2 of 10) demonstrated EMAST, as compared to NHCA (5 of 10, 50%) patients. Combined analysis (both racial groups) showed that 16% (26 of 166) of cases exhibited both EMAST and the phenotype, MSI-high. Furthermore, for AA patients, but not NHCA patients, EMAST was associated with mucinous CRCs (χ2p = 0.02 and χ2p = 0.56, respectively). NHCA patients who had EMAST had lower median survival (24 months) relative to those without EMAST (55 months). In contrast, the AA patients did not demonstrate an appreciable difference in median survival. Conclusions: These findings suggest that, for AA patients, CRCs with EMAST are associated with the MSI-high phenotype and mucinous tumors. For NHCA patients, EMAST is associated with short survival. This work was supported by grants from the NCI/NIH (2U54-CA118948, R01-CA98932, and R03-CA139629). Citation Format: {Authors}. {Abstract title} [abstract]. In: Proceedings of the 103rd Annual Meeting of the American Association for Cancer Research; 2012 Mar 31-Apr 4; Chicago, IL. Philadelphia (PA): AACR; Cancer Res 2012;72(8 Suppl):Abstract nr 1152. doi:1538-7445.AM2012-1152

Hispanic Infants with Cystic Fibrosis Show Low CFTR Mutation Detection Rates in the Illinois Newborn Screening Program

States develop specific protocols for cystic fibrosis (CF) newborn screening to reflect the population served. We hypothesized that mutation distribution and detection rates would differ between Hispanic and non-Hispanic CF patients diagnosed by IL newborn screen with more Hispanic infants carrying mutations not detected by the state panel. Data from CF cases diagnosed via newborn screen in IL between 3/1/2008 and 10/31/2010 were reviewed. More Hispanic infants with CF had one or more undefined mutations after screening, in comparison to non-Hispanic Caucasian patients (40% vs. 9.5%; p < 0.002). The risk of having a positive diagnosis of CF with only one mutation noted by positive newborn screen increases 2-fold in Hispanic Caucasian versus non-Hispanic Caucasian infants (5% vs. 2.4%). Health care providers must be aware of the limitations of CF newborn screening to ensure appropriate counseling and prompt referral for a positive newborn screen, even when zero or one mutations are identified.

Abstract 2261: Prognostic significance of the low level microsatellite instability phenotype differs with race in colorectal adenocarcinoma

Abstract Purpose: Several studies have examined the prognostic value of microsatellite instability (low, MSI-L, and high, MSI-H) phenotypes in colorectal adenocarcinomas (CRCs), but none have specifically considered patient race/ethnicity to assess the value of MSI-L. Therefore, this study assessed the prognostic value of the MSI-L phenotype in African-American and non-Hispanic Caucasian (NHCA) CRC patients separately. Experimental Design: CRCs from 276 African-Americans and 377 NHCAs, collected at the hospitals of the University of Alabama at Birmingham and Morehouse School of Medicine, were assessed for microsatellite instability and p53 mutational status (exons 4 through 9). MSI was assessed at 4 CA-dinucleotide MS loci (Mfd 27, Mfd 41, Mfd 47, and Mfd 57) and 2 poly-A repeats (BAT25, BAT26). Samples were considered MSI-H if at least 2 loci showed instability and MSI-L (low) if only 1 marker was unstable. The phenotypes were correlated with clinicopathologic features and patient survival by use of the χ2 test and univariate Kaplan-Meier analyses, respectively. Results: The incidence of the MSI-L phenotype was higher in African-American patients (49 of 276, 18%) compared to NHCA patients (27 of 377, 7%). In contrast, the frequency of the microsatellite stable (MSS) phenotype was higher in CRCs of NHCAs (72%) than in CRCs of African-Americans (56%). In addition, the incidence of microsatellite instability-high (MSI-H) phenotype was similar in African-Americans (26%) and NHCAs (21%). Presence of the MSI-L phenotype significantly correlated with a higher incidence of missense p53 mutations (64%) and high-grade tumors (31%) and with advanced stages (III and IV) (67%) of CRCs in NHCAs. Such associations, however, were not found in African-American patients. For NHCA patients, CRCs with the MSI-L phenotype had significantly higher mortality (log-rank p=0.044) as compared to MSS or MSI-H. In contrast, for African-American patients, the MSI-L phenotype was associated with a better prognosis (log-rank p=0.043) compared to the MSS or MSI-H phenotypes. Conclusions: These findings suggest that CRC with the MSI-L phenotype is associated with p53 mutations, high-grade tumors, and advanced tumor stage, and with short survival of NHCAs but not African-Americans. This work was supported by grants from the NCI/NIH (2U54-CA118948-03, R01-CA98932, and R03-CA139629). Citation Format: {Authors}. {Abstract title} [abstract]. In: Proceedings of the 102nd Annual Meeting of the American Association for Cancer Research; 2011 Apr 2-6; Orlando, FL. Philadelphia (PA): AACR; Cancer Res 2011;71(8 Suppl):Abstract nr 2261. doi:10.1158/1538-7445.AM2011-2261

Comprehensive Analysis of Oculocutaneous Albinism among Non-Hispanic Caucasians Shows that OCA1 Is the Most Prevalent OCA Type

Oculocutaneous albinism (OCA) is a genetically heterogeneous group of disorders characterized by absent or reduced pigmentation of the skin, hair, and eyes. In humans, four genes have been associated with "classical" OCA and another 12 genes with syndromic forms of OCA. To assess the prevalence of different forms of OCA and different gene mutations among non-Hispanic Caucasian patients, we performed DNA sequence analysis of the four genes associated with "classical" OCA (TYR, OCA2, TYRP1, SLC45A2), the two principal genes associated with syndromic OCA (HPS1, HPS4), and a candidate OCA gene (SILV), in 121 unrelated, unselected non-Hispanic/Latino Caucasian patients carrying the clinical diagnosis of OCA. We identified apparent pathologic TYR gene mutations in 69% of patients, OCA2 mutations in 18%, SLC45A2 mutations in 6%, and no apparent pathological mutations in 7% of patients. We found no mutations of TYRP1, HPS1, HPS4, or SILV in any patients. Although we observed a diversity of mutations for each gene, a relatively small number of different mutant alleles account for a majority of the total. This study demonstrates that, contrary to long-held clinical lore, OCA1, not OCA2, is by far the most frequent cause of OCA among Caucasian patients.

DNA polymorphisms and response to treatment in patients with chronic hepatitis C: Results from the HALT-C trial

Certain host genetic polymorphisms reportedly affect the likelihood of a sustained virological response (SVR) to interferon treatment in subjects infected with hepatitis C virus (HCV). As part of the HALT-C trial we evaluated genetic associations among patients infected with HCV genotype 1 who had failed previous interferon treatment. SVR was determined 24 weeks after completing treatment with pegylated interferon alfa-2a and ribavirin. Eight single nucleotide polymorphisms (SNPs) were selected on the basis of previously reported associations with treatment response. Genotypes were assessed by polymerase chain reaction-based assays. The percentage of patients who achieved SVR was determined for each genotype and for an IL10 promoter diplotype. Among 637 non-Hispanic Caucasian patients there were no significant associations between genotype for any individual SNP (IL10-1082, IL10-592, TNF-308, TNF-238, TGFB1 codon 25, CCL2-2518, EPHX1 codon 113 and AGT-6) and SVR, but SVR was more common among the patients who were homozygous for the ACC IL10 promoter diplotype (adjusted odds ratio, 3.24; 95% confidence interval, 1.33-7.78; p=0.001). Among non-Hispanic Caucasian patients treated with peginterferon and ribavirin after failing previous treatment with interferon, homozygosity for the ACC IL10 promoter diplotype was associated with SVR.

Candidate Genes of the 5-Lipoxygenase Pathway in Acute Coronary Syndrome: A Pilot Study

The purpose of this pilot study was to examine arachidonate 5-lipoxygenase (ALOX5) and ALOX5-activating protein (ALOX5AP) gene variations in patients with and without acute coronary syndrome (ACS). Four and six single nucleotide polymorphisms spanning the ALOX5 and ALOX5AP genes, respectively, were genotyped in 19 non-Hispanic Caucasian patients with ACS and 27 controls. Presence of the common allele of rs9508835 (ALOX5AP) and the minor allele of rs2029253 (ALOX5) were associated with ACS. After adjustment for age, being a carrier of the rs9508835 common allele was associated with an increased risk of ACS (odds ratio = 2.86). RELEVANCE FOR NURSING PRACTICE: Through the inhibition of the ALOX5AP gene by downregulation of the leukotriene pathway, the risk of ACS may be decreased in individuals that carry susceptibility allele(s). Knowledge of the genetic basis of treatments that downregulate the leukotriene pathway may prove essential to the care of individuals with ACS.

Recurrence and survival predictive value of phenotypic expression of Bcl-2 varies with tumor stage of colorectal adenocarcinoma

Although decreased or lack of expression of Bcl-2 has been correlated with advanced tumor stage and shortened patient survival in colorectal cancer (CRC), its value in predicting the recurrence has not been well explored. Therefore, we assessed the usefulness of phenotypic expression of Bcl-2 in non-Hispanic Caucasian patients with CRCs in identifying risk of recurrence. Archival tissues of 92 Stage II and 66 Stage III primary CRCs were evaluated for immunohistochemical expression of Bcl-2. None of these patients received either pre- or post-surgical adjuvant therapies. Kaplan-Meier and Cox proportional hazards methods were used to estimate the rates of recurrence and survival according to Bcl-2 expression. Decreased expression of Bcl-2 was associated with an increased rate of recurrence in patients with Stage II CRCs (5-year log-rank test P=0.0015; Hazard Ratio (HR)=3.90, 95%C.I.:1.55-9.77) but not with Stage III CRCs (5-year log-rank test P=0.6058; HR=1.07, 95%C.I.:0.47-2.45) after adjusting for other demographic and clinicopathological features. Furthermore, decreased expression of Bcl-2 was an indicator of short survival in patients with Stage II CRCs but not with Stage III CRCs. Thus, decreased or lack of Bcl-2 expression in primary CRCs may serve as a molecular biomarker of high risk of recurrence for Caucasian patients with Stage II CRCs. These findings might be useful in identifying biologically aggressive phenotypes of Stage II CRCs, and may aid the oncologist in designing maximally appropriate therapeutic regimens.