Puerto Rican Descent Research Articles

Abstract C156: Examining the role of T cell responses in colorectal cancer sex disparities

Abstract Purpose: Persistent sex disparities in colorectal cancer (CRC) incidence and mortality exist and vary by race and ethnicity. The overarching goal of this proposal is to quantify differences in the CRC tumor immune microenvironment by sex in the Latino Colorectal Cancer Consortium (LC3). Methods: The LC3 is a consortium of pooled individual-level data from Latino participants diagnosed with CRC from California, Florida, and Puerto Rico. Biospecimens, epidemiologic data, and clinical outcomes were collected from each contributing study. DNA was extracted from tumor tissue and paired germline or normal tissue samples. Whole exome sequencing was performed using established protocols. Global genetic ancestry was estimated from whole exome sequence data. High-throughput T cell receptor (TCR) sequencing was used to estimate features of the T cell receptor (TCR) repertoire (e.g. abundance, clonality), and tumor-infiltrating lymphocyte (TIL) counts were obtained through pathology review. We evaluated differences in TCR abundance and TILs by sex using linear models for continuous measurements and generalized linear models for binary or count measurements. Primary analyses were unadjusted, and secondary analyses adjusted for age at diagnosis, stage at diagnosis, tumor location (right colon vs. left colorectum), and microsatellite instability (MSI) status. To examine how genetic ancestry modified the relationship between sex and T cell responses, we fit separate models with an interaction term between each genetic ancestry proportion variable (i.e. African, European, Native American) and sex, and assessed effect modification using a likelihood ratio test. Results: To date, 240 participants had TCR repertoire profiling and whole exome sequencing data generated. 52% were male, with a mean age of 58. 17% of participants had rectal tumors. With respect to Hispanic ethnic heritage or country of origin, 49% of participants were of Mexican descent, followed by 13% of Central or South American descent, and 10% were of Puerto Rican descent. Mean T cell abundance was 0.18 (standard deviation (SD): 0.16) and mean clonality was 0.05 (SD: 0.05). Further analysis is underway. Conclusions: This project leverages within-Latino genetic diversity to disentangle the contributions of sex and genetic ancestry to variability in immune function and to understand how this may further sex disparities in CRC. We anticipate that results from this analysis will provide insight on the relationship between the tumor immune microenvironment and sex disparities in CRC. Citation Format: Nicole C. Loroña, Ya-Yu Tsai, Daniel Sobieski, Eric Cockman, Stephanie L. Schmit, Jane C. Figueiredo. Examining the role of T cell responses in colorectal cancer sex disparities [abstract]. In: Proceedings of the 17th AACR Conference on the Science of Cancer Health Disparities in Racial/Ethnic Minorities and the Medically Underserved; 2024 Sep 21-24; Los Angeles, CA. Philadelphia (PA): AACR; Cancer Epidemiol Biomarkers Prev 2024;33(9 Suppl):Abstract nr C156.

Branched-Chain and Aromatic Amino Acids, Type 2 Diabetes, and Cardiometabolic Risk Factors among Puerto Rican Adults.

(1) Background: Branched-chain and aromatic amino acids (BCAAs/AAAs) have been considered as markers of type 2 diabetes (T2D); however, studies on associations between these metabolites and T2D and cardiometabolic traits in Hispanic populations are limited. The aim of this study was to examine the associations between baseline BCAAs (isoleucine, leucine, valine)/AAAs (phenylalanine, tyrosine) and prevalent and incident T2D, as well as baseline and longitudinal (2 year) changes in cardiometabolic traits (measures of glycemia, dyslipidemia, inflammation, and obesity) in two large cohorts of adults of Puerto Rican descent. (2) Methods: We included participants of the Boston Puerto Rican Health Study (BPRHS, n = 670) and San Juan Overweight Adult Longitudinal study (SOALS, n = 999) with available baseline metabolite and covariate data. T2D diagnosis was defined based on American Diabetes Association criteria. Multivariable logistic (for baseline T2D), Poisson (for incident T2D), and linear (for cardiometabolic traits) regression models were used; cohort-specific results were combined in the meta-analysis and adjusted for multiple comparisons. (3) Results: Higher baseline BCAAs were associated with higher odds of prevalent T2D (OR1SD BCAA score = 1.46, 95% CI: 1.34-1.59, p < 0.0001) and higher risk of incident T2D (IRR1SD BCAA score = 1.24, 95% CI: 1.13-1.37, p < 0.0001). In multivariable longitudinal analysis, higher leucine and valine concentrations were associated with 2-year increase in insulin (beta 1SD leucine = 0.37 mcU/mL, 95% CI: 0.11-0.63, p < 0.05; beta 1SD valine = 0.43 mcU/mL, 95% CI: 0.17-0.68, p < 0.01). Tyrosine was a significant predictor of incident T2D (IRR = 1.31, 95% CI: 1.09-1.58, p < 0.05), as well as 2 year increases in HOMA-IR (beta 1SD tyrosine = 0.13, 95% CI: 0.04-0.22, p < 0.05) and insulin concentrations (beta 1SD tyrosine = 0.37 mcU/mL, 95% CI: 0.12-0.61, p < 0.05). (4) Conclusions: Our results confirmed the associations between BCAAs and prevalent and incident T2D, as well as concurrent measures of glycemia, dyslipidemia, and obesity, previously reported in predominantly White and Asian populations. Baseline leucine, valine, and tyrosine were predictors of 2 year increases in insulin, whereas tyrosine was a significant predictor of deteriorating insulin resistance over time. Our study suggests that BCAAs and tyrosine could serve as early markers of future glycemic changes in Puerto Ricans.

APOE4 allele-specific associations between diet, multimodal biomarkers, and cognition among Puerto Rican adults in Massachusetts.

Apolipoprotein E (APOE) is the strongest genetic risk factor for sporadic Alzheimer's Disease (AD), and the ε4 allele (APOE4) may interact with lifestyle factors that relate to brain structural changes, underlying the increased risk of AD. However, the exact role of APOE4 in mediating interactions between the peripheral circulatory system and the central nervous system, and how it may link to brain and cognitive aging requires further elucidation. In this analysis, we investigated the association between APOE4 carrier status and multimodal biomarkers (diet, blood markers, clinical diagnosis, brain structure, and cognition) in the context of gene-environment interactions. Participants were older adults from a longitudinal observational study, the Boston Puerto Rican Health Study (BPRHS), who self-identified as of Puerto Rican descent. Demographics, APOE genotype, diet, blood, and clinical data were collected at baseline and at approximately 12th year, with the addition of multimodal brain magnetic resonance imaging (MRI) (T1-weighted and diffusion) and cognitive testing acquired at 12-year. Measures were compared between APOE4 carriers and non-carriers, and associations between multimodal variables were examined using correlation and multivariate network analyses within each group. A total of 156 BPRHS participants (mean age at imaging = 68 years, 77% female, mean follow-up 12.7 years) with complete multimodal data were included in the current analysis. APOE4 carriers (n = 43) showed reduced medial temporal lobe (MTL) white matter (WM) microstructural integrity and lower mini-mental state examination (MMSE) score than non-carriers (n = 113). This pattern was consistent with an independent sample from the Alzheimer's Disease Neuroimaging Initiative (ADNI) of n = 283 non-Hispanic White adults without dementia (mean age = 75, 40% female). Within BPRHS, carriers showed distinct connectivity patterns between multimodal biomarkers, characterized by stronger direct network connections between baseline diet/blood markers with 12-year blood/clinical measures, and between blood markers (especially lipids and cytokines) and WM. Cardiovascular burden (i.e., hypertension and diabetes status) was associated with WM integrity for both carriers and non-carriers. APOE4 carrier status affects interactions between dietary factors, multimodal blood biomarkers, and MTL WM integrity across ~12 years of follow-up, which may reflect increased peripheral-central systems crosstalk following blood-brain barrier breakdown in carriers.

Use of an Automated Bilingual Digital Health Tool to Reduce Unhealthy Alcohol Use Among Latino Emergency Department Patients

Alcohol use disorders have a high disease burden among US Latino groups. In this population, health disparities persist, and high-risk drinking has been increasing. Effective bilingual and culturally adapted brief interventions are needed to identify and reduce disease burden. To compare the effectiveness of an automated bilingual computerized alcohol screening and intervention (AB-CASI) digital health tool with standard care for the reduction of alcohol consumption among US adult Latino emergency department (ED) patients with unhealthy drinking. This bilingual unblinded parallel-group randomized clinical trial evaluated the effectiveness of AB-CASI vs standard care among 840 self-identified adult Latino ED patients with unhealthy drinking (representing the full spectrum of unhealthy drinking). The study was conducted from October 29, 2014, to May 1, 2020, at the ED of a large urban community tertiary care center in the northeastern US that was verified as a level II trauma center by the American College of Surgeons. Data were analyzed from May 14, 2020, to November 24, 2020. Patients randomized to the intervention group received AB-CASI, which included alcohol screening and a structured interactive brief negotiated interview in their preferred language (English or Spanish) while in the ED. Patients randomized to the standard care group received standard emergency medical care, including an informational sheet with recommended primary care follow-up. The primary outcome was the self-reported number of binge drinking episodes within the last 28 days, assessed by the timeline followback method at 12 months after randomization. Among 840 self-identified adult Latino ED patients (mean [SD] age, 36.2 [11.2] years; 433 [51.5%] male; and 697 [83.0%] of Puerto Rican descent), 418 were randomized to the AB-CASI group and 422 to the standard care group. A total of 443 patients (52.7%) chose Spanish as their preferred language at enrollment. At 12 months, the number of binge drinking episodes within the last 28 days was significantly lower in those receiving AB-CASI (3.2; 95% CI, 2.7-3.8) vs standard care (4.0; 95% CI, 3.4-4.7; relative difference [RD], 0.79; 95% CI, 0.64-0.99). Alcohol-related adverse health behaviors and consequences were similar between groups. The effect of AB-CASI was modified by age; at 12 months, the relative reduction in the number of binge drinking episodes within the last 28 days in the AB-CASI vs standard care group was 30% in participants older than 25 years (RD, 0.70; 95% CI, 0.54-0.89) compared with an increase of 40% in participants 25 years or younger (RD, 1.40; 95% CI, 0.85-2.31; P = .01 for interaction). In this study, US adult Latino ED patients who received AB-CASI had a significant reduction in the number of binge drinking episodes within the last 28 days at 12 months after randomization. These findings suggest that AB-CASI is a viable brief intervention that overcomes known procedural barriers to ED screening, brief intervention, and referral to treatment and directly addresses alcohol-related health disparities. ClinicalTrials.gov Identifier: NCT02247388.

Raising awareness of TBC1 domain‐containing kinase (TBCK) epileptic encephalopathy among Puerto Rican children

AbstractBackgroundTBC1 domain‐containing kinase (TBCK) syndrome is a rare autosomal recessive genetic disorder that presents with infantile hypotonia, intellectual disability, motor impairment, and drug‐resistant epilepsy. The abnormal TBCK protein alters the mammalian target of rapamycin complex 1 (mTORC1), leading to accumulation of autophagic vesicles within fibroblasts. Thirty‐five previously reported individuals with TBCK were identified.MethodsWe present four children with TBCK due to the p.R126X (p.ARG126*) mutation, a variant predominating among children of Puerto Rican descent. This mutation has been associated with TBCK‐encephaloneuropathy or Boricua syndrome.DiscussionThese four of our patients were diagnosed within a span of 6 months, suggesting that the prevalence of the syndrome could be higher than expected among individuals from Puerto Rico. We believe this finding was largely due to the increasing availability and affordability of modern genetic testing in Puerto Rico, illustrating the importance of equitable access to genetic testing to all pediatric patients with similar symptomatology. Prompt diagnosis facilitates appropriate medical management and prognosis counseling.

An unusual case of a Puerto Rican patient with involuntary pelvic movements, behavioral changes and mutism associated to VSP13A gene (P3-4.001)

<h3>Objective:</h3> To present a case of a Puerto Rican woman with Chorea-Acanthocytosis positive for VSP13A gene variant presenting with severe pelvic movements. <h3>Background:</h3> Chorea-Acanthocytosis is an autosomal recessive inherited neurodegenerative disorder originated from variants of the VPS13A gene. It is characterized by clinical features that may include chorea, tics, parkinsonism, dystonia, speech disturbances, and epilepsy. Most case reports of Puerto Rican descent have been reported in the United States. <h3>Design/Methods:</h3> NA <h3>Results:</h3> We present the case of a 41-year-old Puerto Rican woman with unusual involuntary movements and mutism. At onset she developed irritability and generalized choreiform movements that worsened over the years. There is family history of undiagnosed involuntary movements and family consanguinity. Clinical symptoms worsened to non-verbal communication, dysphagia, additional behavioral changes, and involuntary movements. Neurological examination showed choreiform movements, orofacial movements and blepharospasm. She presented forceful, brisk and disabling movements of the pelvis and neck present while lying down and worsened with activity. Genetic test for Huntington disease was negative, repeated blood smear did not show acanthocytes. CPK was mildly elevated, liver enzymes and serum ceruloplasmin levels were normal. CSF analysis was unremarkable. Autoimmune encephalitis was suspected and she received a course of IVIG without benefit. EEG was normal. Brain MRI showed abnormal signal intensity of bilateral gray matter involving putamen and caudate nuclei with associated ex vacuo dilation of frontal horns and lateral ventricles. Genetic testing was positive for autosomal recessive homozygous VSP13A gene variant. <h3>Conclusions:</h3> This case illustrates the variable presentation of chorea-acanthocytosis and emphasizes the importance of early recognition and timely genetic testing among Hispanic patients presenting with involuntary movements. Our patient had an uncommon initial presentation with predominant severe pelvic and neck movements making the diagnosis challenging and delayed. An accurate and early diagnosis is important to offer symptomatic treatment, identify potential future complications, and provide genetic counseling. <b>Disclosure:</b> Dr. Enriquez-Gonzalez has nothing to disclose. The institution of Dr. Serrano has received research support from Eli Lilly. The institution of Dr. Serrano has received research support from Abbvie.

Interventions: An Interview with Christopher Sorrentino

InterventionsAn Interview with Christopher Sorrentino Frederick Luis Aldama Reading Christopher Sorrentino, I can't help but think of John Barth's still poignant yet decades-old observation about the "used-upness" of literature—all while championing the vital spark of those like Borges and García Márquez. I put Sorrentino squarely in the latter's camp. His work innovates, without wearing innovation on its sleeve. He inventively shapes new storytelling designs, all while keeping us grounded in tellurian matters of mind, body, and heart. He replenishes our planetary republic of letters. From his first novel, Sound on Sound (1995), which is narratively shaped as a multitrack recording session, to his claustrophobically close-up view of a fictionalized Patty Hearst in Trance (2005), to his kaleidoscopic kinesis of consciousness in Now Beacon, Now Sea (2021), Sorrentino refuses to slip into repetition or formula. He is serious about the craft. He's also an author who, like Cervantes, Laurence Sterne, Flann O'Brien, and Katherine Dunn (a few that come readily to mind), has fun—and gives us permission to have fun. We see this most visibly in the coauthored (with Jonathan Lethem) Believeniks! 2005: The Year We Wrote a Book about the Mets (2006), where the Quixote/Sancho protagonist pair, Ivan Felt and Harris Conklin, also appear on the book's jacket cover as the novel's authors; and in The Fugitives (2015) he does with the crime thriller what Cervantes did with the chivalric romance, transforming formula (genre) into transformative art. Sorrentino's creative range is broad; he coauthored (with Brit Pop artist Derek Boshier) American Tempura (2007), a magisterial study that weaves the personal with the sociopolitical; his lively Death Wish: A Novel Approach (2010); as well as exquisitely rendered, deeply probing shorter work appearing in the New York Times, Esquire, Harper's, the Paris Review, Granta, and McSweeney's, among others. His journey also includes teaching at prestigious universities, such as the New School and Columbia, and holding a visiting writer position at Fairleigh Dickinson University. His accolades are numerous, including Guggenheim and Lannan fellowships, and was a finalist [End Page 68] for the National Book Award for Fiction and long-listed for the International Dublin Literary Award. He is a member of the Unterberg Poetry Center of the 92nd Street Y. I had the great pleasure of talking with Christopher Sorrentino about his life and work. frederick luis aldama: In 2006, your father, Gil Sorrentino, died—a beloved professor of mine at Stanford. In 2017, your mother, Victoria Ortiz, died. You chose to write with great sensitivity and nuance about Victoria's death in Now Beacon, Now Sea, capturing beautifully and candidly the idiosyncratic ways we experience the death of loved ones. christopher sorrentino: Parents are the big ones for most of us. When my father died, I felt mainly relief. He'd been dying for eight months, and I did most of my grieving while he was fading. When he was gone, I felt an enormous weight lifted. My mother's death was different. It was sudden, and shocking. Given her genes, I figured she'd keep going for another ten years. But I think her will to live abandoned her. As I relate in Now Beacon, I think she found her situation intolerable, and I couldn't really help her. With her death, I quickly and intensely felt anger, regret, and guilt. fla: You not only explore your conflicted relationship with your mother but also her identity as a Latina of Puerto Rican descent. cs: My mother's sense of her identity was complex, and she mostly kept it to herself. I think she was ambivalent about it, proud but also convinced that it was something it was best not to advertise. She certainly didn't try to keep me from my grandparents, or the rest of our family living in the Bronx. They were a big part of my life, and I visited with them regularly. On the other hand, she conditioned me to accept myself as a white, or white passing, person. It was an extension of her own aspirations, and in fact those of her parents, who fully embraced an...

Associations of network-derived metabolite clusters with prevalent type 2 diabetes among adults of Puerto Rican descent

IntroductionWe investigated whether network analysis revealed clusters of coregulated metabolites associated with prevalent type 2 diabetes (T2D) among Puerto Rican adults.Research design and methodsWe used liquid chromatography-mass spectrometry to measure...

English Narrative Macrostructure Development of Spanish-English Bilingual Children From Preschool to First Grade.

Purpose This longitudinal study examined the development of seven macrostructure features in the English narratives of Spanish-English bilingual children from the beginning of preschool to the end of first grade and examined whether the timing of English exposure impacted this development. Method Narratives were collected over 4 years for 103 children of Puerto Rican descent. Narratives were elicited in the fall and spring of each year and coded for macrostructure using the Narrative Scoring Scheme, which generates a score for each macrostructure feature. Using parent report of the timing of English exposure, the children were grouped according to whether they had learned Spanish and English from birth (home English communication) or whether they had been primarily exposed to English in Head Start (school English communication [SEC]). Results Growth curve models revealed that the children's production of all seven narrative features demonstrated growth over the 4 years. Some features demonstrated slowed growth during the school years. Though the children in the SEC group began Head Start with significantly lower macrostructure scores than the children in the home English communication group, the SEC children demonstrated faster growth rates for a majority of features once schooling began. Conclusions The results provide information about the unique developmental progression of each macrostructure feature in the English narratives of bilingual children. The findings suggest that individual macrostructure features were susceptible to the effects of the timing of English exposure. The preschool years mark an important time to promote bilingual children's narrative production, especially for children exposed primarily to Spanish at home.

Public health storytelling practice

Medicine is rich with storytelling, and scholars such as Rita Charon, Sayantani DasGupta, and Arthur Frank have argued convincingly for the role of narrative in the health humanities. Literary non-fiction is frequently used in medical and public health education. Narrative interventions, such as one that Aline Gubrium and colleagues piloted to investigate and address reproductive health inequities among adolescent women of Puerto Rican descent, are proliferating in public health. The stories they generate find their way into advocacy, reporting, and fundraising. News stories about COVID-19 that position doctors and epidemiologists as characters in an unfolding drama echo fictional depictions of them as heroes, and sometimes villains, in pandemic films such as Contagion.

Transethnic analysis of the human leukocyte antigen region for ulcerative colitis reveals not only shared but also ethnicity-specific disease associations.

Inflammatory bowel disease (IBD) is a chronic inflammatory disease of the gut. Genetic association studies have identified the highly variable human leukocyte antigen (HLA) region as the strongest susceptibility locus for IBD and specifically DRB1*01:03 as a determining factor for ulcerative colitis (UC). However, for most of the association signal such as delineation could not be made because of tight structures of linkage disequilibrium within the HLA. The aim of this study was therefore to further characterize the HLA signal using a transethnic approach. We performed a comprehensive fine mapping of single HLA alleles in UC in a cohort of 9272 individuals with African American, East Asian, Puerto Rican, Indian and Iranian descent and 40 691 previously analyzed Caucasians, additionally analyzing whole HLA haplotypes. We computationally characterized the binding of associated HLA alleles to human self-peptides and analyzed the physicochemical properties of the HLA proteins and predicted self-peptidomes. Highlighting alleles of the HLA-DRB1*15 group and their correlated HLA-DQ-DR haplotypes, we not only identified consistent associations (regarding effects directions/magnitudes) across different ethnicities but also identified population-specific signals (regarding differences in allele frequencies). We observed that DRB1*01:03 is mostly present in individuals of Western European descent and hardly present in non-Caucasian individuals. We found peptides predicted to bind to risk HLA alleles to be rich in positively charged amino acids. We conclude that the HLA plays an important role for UC susceptibility across different ethnicities. This research further implicates specific features of peptides that are predicted to bind risk and protective HLA proteins.

Fully phased human genome assembly without parental data using single-cell strand sequencing and long reads

Human genomes are typically assembled as consensus sequences that lack information on parental haplotypes. Here we describe a reference-free workflow for diploid de novo genome assembly that combines the chromosome-wide phasing and scaffolding capabilities of single-cell strand sequencing1,2 with continuous long-read or high-fidelity3 sequencing data. Employing this strategy, we produced a completely phased de novo genome assembly for each haplotype of an individual of Puerto Rican descent (HG00733) in the absence of parental data. The assemblies are accurate (quality value > 40) and highly contiguous (contig N50 > 23 Mbp) with low switch error rates (0.17%), providing fully phased single-nucleotide variants, indels and structural variants. A comparison of Oxford Nanopore Technologies and Pacific Biosciences phased assemblies identified 154 regions that are preferential sites of contig breaks, irrespective of sequencing technology or phasing algorithms.

Abstract 17285: Metabolite-Derived Network Reveals Cluster of Acylcholine Metabolites Associated With Better Diet Quality and Lower Prevalence of Type 2 Diabetes: Findings From the Boston Puerto Rican Health Study

Introduction: Puerto Rican (PR) adults living on the US mainland are at high risk for developing type 2 diabetes (T2D), and dietary factors may contribute to this increased risk. Network analysis is a data-reduction tool that can identify correlated clusters of co-regulated metabolites that reflect mechanisms underlying diet-T2D associations. Hypothesis: Diet quality will associate with T2D-associated metabolite clusters among PR adults. Methods: We used LC/MS to measure fasting plasma metabolites (&gt;700) among Boston PR Health Study participants, aged 45-75 years, with (n=258) and without (n=421) T2D. We applied an unsupervised correlation network-based method to identify metabolite clusters within a global metabolite network and calculated a score for each cluster using a weighted sum of metabolite concentrations. To estimate diet quality, we calculated a modified version of a previously validated American Heart Association diet score (AHA-DS). Logistic regression was used to assess cross-sectional associations between metabolite clusters and prevalent T2D, and linear regression was used to assess associations between the continuous AHA-DS and T2D-associated metabolite clusters among controls, adjusting for potential confounders and correcting for multiple testing. Results: We identified 7 metabolite clusters that were associated with prevalent T2D ( p &lt;0.05). For every 1-standard deviation (SD) increase in cluster score, the odds ratios for prevalent T2D and 95% confidence intervals were as the follows: acylcholines [0.40 (0.31, 0.50)], aromatic hydrocarbon derivatives [0.33 (0.22, 0.47)], sphingolipids [0.46 (0.33, 0.64)], tricarboxylic acid (TCA) cycle amino acids/peptides [0.39 (0.25, 0.62)], branched-chain amino acid metabolites [4.1 (2.9, 6.0)], acylcarnitines [1.8 (1.3, 2.5)], and TCA cycle/energy metabolites [2.0 (1.4, 3.0)]. The AHA-DS was only significantly associated with the acylcholine metabolites cluster [β (standard error) = 0.01 (0.004) SD increase in cluster score, p=0.02]. Conclusions: In individuals of PR descent, we identified a cluster of acylcholine metabolites where concentrations are higher among those with better diet quality and lower among those with prevalent T2D.

S3362 Hermansky-Pudlak Syndrome: A Rare Cause of Postpolypectomy Bleeding: A Case Report and Review of Literature

INTRODUCTION: Post-polypectomy bleeding (PPB) is one of the most common complications of endoscopic therapy. The rate of PPB to be 0.4% per colonoscopy performed in patients at a high risk of colon polyps. However, the risk of post polypectomy bleeding is higher in patients with bleeding diathesis or platelet dysfunction. Here we report an interesting case of PPB in a patient with bleeding diathesis due to Hermansky-Pudlak syndrome. CASE DESCRIPTION/METHODS: A 68 year old Hispanic man of Puerto Rican descent presented to emergency department with 2 day history of small amount of hematochezia twice daily . One day prior to this event he underwent screening colonoscopy which showed 2 polyps (12 and 14 mm in size) which were removed with the help of a hot snare polypectomy. Post- intervention hemostatic clip and epinephrine were injected. Pathology showed inflammatory polyps. He had medical comorbids of hypertension and Hermansky Pudlak Syndrome . On initial examination in the emergency department, patient was afebrile, with stable vital signs. His abdominal examination revealed no tenderness and digital rectal examination showed brown stool with no hematochezia. Rest of the review of systems and physical examination was unremarkable. Laboratory tests showed a decrease in hemoglobin from a baseline of 13 gm/dl to 11.0 gm/dl. Rest of the laboratory work up was unremarkable. Hematology service was consulted in view of underlying condition and advised to give DDAVP (1-desamino-8-D-arginine vasopressin). Patient was admitted to the medicine floor for observation. He did not have any further episodes of rectal bleeding and his hemoglobin level remained stable during this time. Subsequently he was discharged with outpatient gastroenterology follow up. DISCUSSION: Hermansky-Pudlak syndrome(HPS) is a rare autosomal disorder characterized by oculocutaneous albinism, a bleeding diathesis secondary to platelet dysfunction, and other organ involvement specific to certain types including granulomatous colitis and pulmonary fibrosis. HPS is very uncommon with a prevalence of 1 in 1000,000, However, it is common in Puerto Ricans, affecting approximately 1 in 1,800 people. There is no definitive treatment for HPS. Our goal is to guide the appropriate management of these patients specially perioperatively in major and minor procedures such as routine screening colonoscopies to prevent any adverse events.

P36 Hispanic Mothers’ Barriers to Making Healthy Eating Changes Within the Family

<h3>Background</h3> Hispanic adults have the highest rates of overweight and obesity of any racial or ethnic group. Several barriers to healthy eating within the family (eg, lack of time, energy, accessibility, and cost) are well documented. However, few studies have assessed Hispanic mothers' perceived barriers, specifically on implementing healthy eating changes in the family's meals and anticipated family members' responses to healthy eating changes. <h3>Objective</h3> The primary objective of this study was to assess Hispanic mothers' perceived barriers in creating healthy eating changes within the family. <h3>Study Design, Setting, Participants</h3> Sixty-one Mexican-American and Puerto Rican mothers enrolled across 4 states (California, Illinois, Iowa, and Texas) who participated in 13 focus groups. These 4 states were selected due to their locations and concentrations of Mexican-American and Puerto Rican families. Eligibility criteria included being Mexican American or Puerto Rican descent, and having a child between the ages of 6-18. <h3>Measurable Outcome/Analysis</h3> Focus groups were transcribed verbatim and then translated to English by 2 independent research assistants for accuracy purposes. The analysis was guided by grounded theory, using a systematic approach to help patterns in the data to be discovered and identified. Themes were created within and across codes by multiple researchers and representative quotes were selected. <h3>Results</h3> Participating mothers felt that the largest barriers to implementing healthy eating changes within the home would be child and spouse resistance. Mothers largely felt that family members would not welcome healthy changes. The resistance mothers encounter may magnify their workload as several mothers talked about having to make multiple meals in a single mealtime to ensure that everyone was fed. <h3>Conclusions</h3> The present study adds to the literature because the focus is on Mexican, Mexican-American, and Puerto Rican families. Family interventions targeting Hispanic families should include an emphasis on empowering parents and providing strategies to increase the likelihood of all family members eating the same meal.

SAT-065 A Novel De Novo GATA3 Gene Mutation in an Adolescent with HDR Syndrome

Background: GATA3 encodes a transcription factor critical for embryonic development of the parathyroid glands, kidney, inner ear, thymus, and the central nervous system. Heterozygous loss-of-function mutations in GATA3 are associated with hypoparathyroidism, sensorineural deafness and renal disease (HDR syndrome). Clinical Case: A 12 yo male with left hip pain underwent a closed reduction for left slipped capital femoral epiphysis. The pre-op evaluation revealed hypocalcemia (serum Ca 7.7 mg/dL; nl: 8.8-10.2), creatinine 0.46 mg/dL (0.5-1.0), TSH 3.16 uU/mL (0.3-4.2), FT4 1.36 ng/dL (0.8-1.8). Oral calcium and vitamin D supplementation was begun, and 2 wks later, follow-up evaluation revealed serum Ca of 9.4 mg/dL, intact PTH 4.6 pg/mL (10-69), phosphorus 5.9 mg/dL (3.3-5.3), 25-OHD 26 ng/mL (30-100), and a normal chromosomal microarray. Bone density (DXA) Z-scores for hip and spine were -1.7 and 0.8, respectively. At age 13 he underwent bilateral osteotomy due to bilateral hip dysplasia and removal of hardware the next year. At age 15 he underwent left total hip replacement for avascular necrosis. In the post-operative period hypocalcemia recurred (5.9-6.7mg/dL), and he was referred for endocrine evaluation. He was of mixed African American and Puerto-Rican descent. He had difficulties in school and required eyeglasses and hearing aids. Past history included congenital scoliosis (right T11-12 rib fusion, wedged L1 vertebra, and incomplete fusion of posterior elements of L4 and L5), a small right kidney (per ultrasound examination), bilateral orchiopexy for undescended testicles (age 2), diagnoses of ADHD (at age 5); sensorineural hearing loss and psoriasis (age 12), and gastroesophageal reflux (age13). Multiple paternal family members were reported to have abnormal calcium levels and hearing/vision problems, but no known diagnosis. On exam, he had no facial dysmorphism, but left supernumerary nipples, lumbar lordosis and thoracic kyphosis, and clinodactyly. He had achieved Tanner 5 secondary sexual characteristics. There was no Chvostek’s sign. Laboratory investigation revealed Ca 7.9 mg/dL, phosphorus 5.9 mg/dL (3.1-4.7), alkaline phosphatase 123 U/L (50-380), 25-OHD 32 ng/mL, intact PTH 10.2 pg/mL. Treatment with calcium carbonate and calcitriol was begun. Whole exome sequencing identified a heterozygous mutation in GATA3 (c.1061C>T, p.Pro354Leu), predicted to be damaging. This variant has not been reported in literature or public database to our knowledge. Conclusion: This case highlights the importance of genetic testing in the setting of unexplained hypoparathyroidism, and identifies a likely novel mutation in GATA3, providing a basis to counsel the family and encourage medical follow up of suspected family members.

Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwide

Previously we reported the identification of a homozygous COL27A1 (c.2089G>C; p.Gly697Arg) missense variant and proposed it as a founder allele in Puerto Rico segregating with Steel syndrome (STLS, MIM #615155); a rare osteochondrodysplasia characterized by short stature, congenital bilateral hip dysplasia, carpal coalitions, and scoliosis. We now report segregation of this variant in five probands from the initial clinical report defining the syndrome and an additional family of Puerto Rican descent with multiple affected adult individuals. We modeled the orthologous variant in murine Col27a1 and found it recapitulates some of the major Steel syndrome associated skeletal features including reduced body length, scoliosis, and a more rounded skull shape. Characterization of the in vivo murine model shows abnormal collagen deposition in the extracellular matrix and disorganization of the proliferative zone of the growth plate. We report additional COL27A1 pathogenic variant alleles identified in unrelated consanguineous Turkish kindreds suggesting Clan Genomics and identity-by-descent homozygosity contributing to disease in this population. The hypothesis that carrier states for this autosomal recessive osteochondrodysplasia may contribute to common complex traits is further explored in a large clinical population cohort. Our findings augment our understanding of COL27A1 biology and its role in skeletal development; and expand the functional allelic architecture in this gene underlying both rare and common disease phenotypes.

Race and Racism as Structural Determinants for Emergency and Recovery Response in the Aftermath of Hurricanes Irma and Maria in Puerto Rico.

Purpose: To explore the role of race and racism in emergency response and recovery in the aftermath of hurricanes in Puerto Rico (PR).Methods: Sixteen semistructured qualitative interviews were conducted between March and April 2018 with community members who had an active role in the process of response and relief efforts. Among participants, eight were from PR, and eight were of Puerto Rican descent living in the continental United States. Narrative text from interviews was analyzed using grounded theory approach and narrative analysis techniques.Results: Participants were adult men and women from different municipalities in PR and diverse regions of the continental United States and with diverse professional and economic backgrounds. In the analysis of the interviews, “fitting the box” of race, race in emergency and recovery response, and community philanthropy emerged across narratives as frequent and as illustrative of the issues of race/racism and response to natural disasters in PR. Participants shared a perception that the combination of disasters, including natural disasters and historic political mismanagement, is the cause of the precarious conditions in PR in the aftermath of the hurricanes. Race was perceived as a problematic construct in the understanding of Puerto Rican identities. Racism was contextualized as part of the complicated relationship between PR and the United States and as an obstacle for adequate emergency response.Conclusions: Systemic racism was perceived as a barrier to emergency and recovery response in the aftermath of natural disasters. Structural changes are required to reduce vulnerability and health inequities in PR.

Abstract 52: Plasma Metabolomic Signatures of the American Heart Association Diet Score: Findings From the Boston Puerto Rican Health Study

Introduction: Puerto Rican adults living on the US mainland tend to have poor quality diets and adverse cardiometabolic risk. Plasma metabolomic signatures reflect dietary intakes and variability in metabolic response to diet. Hypothesis: A plasma metabolomic signature reflecting adherence to the American Heart Association (AHA) dietary guidelines will be associated with cardiometabolic risk. Methods: We used LC/MS to measure plasma metabolites (&gt;700) among Boston Puerto Rican Health Study participants, aged 45-75 years, without (n=252) and with (n=254) type 2 diabetes (T2D). We calculated a modified version of a previously validated AHA diet score (AHA-DS), which included variety and amounts of fruits/vegetables, whole grains, fish, saturated fat, trans fat, sodium, and added sugars. We used elastic net regression to identify a metabolomic signature that associated with higher adherence to the AHA-DS among those without T2D (training set) and replicated the associations among those with T2D (testing set). A metabolomic score was calculated as the weighted sum of the diet associated metabolites. We used general linear models to determine the cross-sectional associations between the AHA-DS, metabolomic score, and cardiometabolic risk factors. Results: A diet-associated metabolomic signature with 58 metabolites, primarily lipids and amino acids, was identified. This metabolomic score correlated moderately with the AHA-DS among those with and without T2D (r=0.42-0.46, P &lt;5.7x10 -12 ). In all participants (n=506), the metabolomic score, but not the AHA-DS, was significantly associated with higher HDL-C and LDL-C concentrations, and lower waist circumference ( P &lt;0.004; Table 1). No associations were observed for triglyceride concentrations, glycemia measures, or blood pressure. Conclusions: In individuals of Puerto Rican descent, we identified a metabolomic signature that reflected adherence and metabolic response to the AHA dietary guidelines and that associated with cardiometabolic risk factors.

Are We All Speaking the Same Language? Exploring Language Interactions in the Homes of Young Latino DLLs Living in the U.S.

ABSTRACT Research Findings: The Latino population within the U.S. is heterogeneous with diversity in education level, country of origin, and English language fluency. Latino children often enter school with limited English language skills. In the current study, we surveyed 448 Latino families of Cuban, Mexican, and Puerto Rican descent regarding their home language use providing an in-depth look at the language interactions within Latino families residing in the U.S. Adults were matched on the language used with each other and with the target child. Six main findings are reported: (1) Mother–father language matched in 94% of the homes. Frequency distributions and cross-tab analysis identified Spanish as the primary language spoken in 56% of the homes, (2) Children and parents matched in language spoken in less than 21% of the homes, (3) Fathers play an important role in language use at home, (4) Approximately half of the mothers report no English fluency, (5) Latino children prefer to speak English at home, and (6) Maternal English fluency is related to overall language use. Practice or Policy: Early Childhood professionals should carefully structure language experiences in the classroom to aid the language acquisition of DLLs while promoting bilingualism. In addition, programs must take into consideration language spoken at home when establishing communication with the families.