Meta-analysis of GWA studies provides new insights on the genetic architecture of skin pigmentation in recently admixed populations.

BMC Genet. 2019 Jul 17;20(1):59

Authors: Lona-Durazo F, Hernandez-Pacheco N, Fan S, Zhang T, Choi J, Kovacs MA, Loftus SK, Le P, Edwards M, Fortes-Lima CA, Eng C, Huntsman S, Hu D, Gómez-Cabezas EJ, Marín-Padrón LC, Grauholm J, Mors O, Burchard EG, Norton HL, Pavan WJ, Brown KM, Tishkoff S, Pino-Yanes M, Beleza S, Marcheco-Teruel B, Parra EJ

Abstract
BACKGROUND: Association studies in recently admixed populations are extremely useful to identify the genetic architecture of pigmentation, due to their high genotypic and phenotypic variation. However, to date only four Genome-Wide Association Studies (GWAS) have been carried out in these populations.
RESULTS: We present a GWAS of skin pigmentation in an admixed sample from Cuba (N = 762). Additionally, we conducted a meta-analysis including the Cuban sample, and admixed samples from Cape Verde, Puerto Rico and African-Americans from San Francisco. This meta-analysis is one of the largest efforts so far to characterize the genetic basis of skin pigmentation in admixed populations (N = 2,104). We identified five genome-wide significant regions in the meta-analysis, and explored if the markers observed in these regions are associated with the expression of relevant pigmentary genes in human melanocyte cultures. In three of the regions identified in the meta-analysis (SLC24A5, SLC45A2, and GRM5/TYR), the association seems to be driven by non-synonymous variants (rs1426654, rs16891982, and rs1042602, respectively). The rs16891982 polymorphism is strongly associated with the expression of the SLC45A2 gene. In the GRM5/TYR region, in addition to the rs1042602 non-synonymous SNP located on the TYR gene, variants located in the nearby GRM5 gene have an independent effect on pigmentation, possibly through regulation of gene expression of the TYR gene. We also replicated an association recently described near the MFSD12 gene on chromosome 19 (lead variant rs112332856). Additionally, our analyses support the presence of multiple signals in the OCA2/HERC2/APBA2 region on chromosome 15. A clear causal candidate is the HERC2 intronic variant rs12913832, which has a profound influence on OCA2 expression. This variant has pleiotropic effects on eye, hair, and skin pigmentation. However, conditional and haplotype-based analyses indicate the presence of other variants with independent effects on melanin levels in OCA2 and APBA2. Finally, a follow-up of genome-wide signals identified in a recent GWAS for tanning response indicates that there is a substantial overlap in the genetic factors influencing skin pigmentation and tanning response.
CONCLUSIONS: Our meta-analysis of skin pigmentation GWAS in recently admixed populations provides new insights about the genetic architecture of this complex trait.

PMID: 31315583 [PubMed - in process]

Multidrug-Resistant Klebsiella pneumoniae ST307 in Traveler Returning from Puerto Rico to Dominican Republic.

Emerg Infect Dis. 2019 Aug;25(8):1583-1585

Authors: Rojas R, Macesic N, Tolari G, Guzman A, Uhlemann AC

Abstract
We report blaKPC-2-harboring carbapenem-resistant Klebsiella pneumoniae in an emerging sequence type 307 lineage in a traveler returning from Puerto Rico to the Dominican Republic. Phylogenetic analyses indicate regional dissemination of this highly drug-resistant clone across the Americas, underscoring the need for adequate surveillance and infection control efforts to prevent further spread.

PMID: 31310203 [PubMed - in process]

Newborn Screening for Severe Combined Immunodeficiency in the US: Current Status and Approach to Management.

Int J Neonatal Screen. 2017 Jun;3(2):

Authors: Dorsey M, Puck J

Abstract
In the US, the assay of T cell receptor excision circles (TRECs) in newborn dried blood spot specimens to detect severe combined immunodeficiency (SCID) was first piloted in 2008 in the state of Wisconsin. It has been rapidly adopted with 49 states and Puerto Rico now either routinely screening all newborns or planning to do so in 2017. Advances in SCID NBS over the last 9 years have revolutionized the ability to detect SCID and has led to profound improvement in outcomes of affected children.

PMID: 31304419 [PubMed]

Zika circulation, congenital syndrome, and current guidelines: making sense of it all for the traveller.

Curr Opin Infect Dis. 2019 Jul 09;:

Authors: Chen LH, Wilson ME

Abstract
PURPOSE OF REVIEW: Zika virus (ZIKV) swept through the Americas and led to recognition of its neurotropism. Zika circulation elsewhere in the world, nonvector transmission including maternal-fetal/sexual/transfusion routes, and additional reports on congenital Zika syndrome (CZS) and Guillain-Barré syndrome (GBS) have been published.
RECENT FINDINGS: In 2018-2019, ZIKV transmission occurred in Cuba, India, and is suspected to appear sporadically in other countries. Maternal-fetal ZIKV transmission appears to occur in about 26% of ZIKV-infected pregnant women. The US ZIKV Pregnancy and Infant Registry identified 6% of live births to have at least one ZIKV-associated birth defect; 9% had at least one neurodevelopmental abnormality; 1% had both. Infectious virus was rarely isolated from semen of ZIKV-infected male patients beyond day 38 after symptom onset. Brazilian blood donations had low ZIKV prevalence in 2015-2016; in the United States, screening donations was cost-effective only in the high mosquito season in Puerto Rico.
SUMMARY: ZIKV transmission continues; many countries with competent mosquitoes are at risk. Transmission can occur without detection where surveillance is poor and laboratory capacity limited. Travelers are important sentinels. Variations exist among ZIKV strains and Aedes mosquitoes that influence competence for transmission. Maternal-fetal transmission results in significant rates of abnormality. Identification of infectious virus in semen clarifies sexual transmission risk, with updated recommendations for preconception planning. ZIKV neurotropism requires further research and long-term follow-up.

PMID: 31305494 [PubMed - as supplied by publisher]

Gold medal award for life achievement in the practice of psychology: Lillian Comas-Díaz.

Am Psychol. 2019 Jul-Aug;74(5):525-526

Authors:

Abstract
From teaching public school in Puerto Rico, to community mental health services in Massachusetts and Connecticut, to Yale faculty and clinic director, to cofounding Division 45 and subsequently bringing the journal Cultural Diversity and Mental Health to American Psychological Association to promote ethnocultural psychology academic research and practice, Lillian Comas-Díaz exemplifies improving mental health through ideas and action. Her pioneering theoretical and practical contributions inspire both our and future generations to a higher standard of psychology: They encompass multiple and diverse psychotherapies, feminism and gender studies, diversity, social justice, spirituality, substance abuse, humanism, liberation psychology, cultural competence/cross-cultural interactions, and multiculturalism. (PsycINFO Database Record (c) 2019 APA, all rights reserved).

PMID: 31305094 [PubMed - in process]

Lessons Learned from a Medical Response Team 45 Days Post Hurricane Maria in Puerto Rico.

Disaster Med Public Health Prep. 2019 Jul 15;:1-6

Authors: Gordon JM, Orriola D, Unangst M, Gordon F, Vellon YER

Abstract
ABSTRACTObjective:Describe the lived experience of a grassroots, non-governmental disaster medical team (DMT) through a research lens and share practical lessons learned, based on the DMT's experience to support and inform future response teams.
METHODS: Forty-five days after Hurricane Maria, a non-governmental DMT provided primary medical care via community based pop-up clinics and home visitations in 5 different areas of Puerto Rico. Observational data, photo images, and debriefing notes were collected and documented in the response team's daily activity log. Field notes were coded using a descriptive coding method and then categorized into 2 domains specific to public health and medical diagnosis.
RESULTS: Medical aid was provided to nearly 300 (N = 296) residents. Field note observations identified exhaustion related to living conditions and the exacerbation of underlying conditions such as reactive airway diseases, diabetes, hypertension, and depression due to the compounding effects of multiple post-disaster triggers. During home visitations, feelings of sadness and helplessness were identified secondary to natural disaster trauma and current living conditions.
CONCLUSION: Our non-governmental DMT displayed similar characteristics demonstrated by federal DMTs post natural disaster. A number of strategic lessons learned emerged from the public health intervention important to future non-governmental DMTs.

PMID: 31304898 [PubMed - as supplied by publisher]

Patterns and Outcomes of Endovascular Therapy in Mild Stroke.

Stroke. 2019 Jul 15;:STROKEAHA118023893

Authors: Asdaghi N, Yavagal DR, Wang K, Mueller-Kronast N, Bhatt N, Gardener HE, Gutierrez CM, Marulanda-Londoño E, Koch S, Dong C, Oluwole SA, Hanel R, Mehta B, Robichaux M, Nobo U, Zevallos JC, Rundek T, Sacco RL, Romano JG

Abstract
Background and Purpose- We aimed to evaluate the current practice patterns, safety and outcomes of patients who receive endovascular therapy (EVT) having mild neurological symptoms. Methods- From Jan 2010 to Jan 2018, 127,794 ischemic stroke patients were enrolled in the Florida-Puerto Rico Stroke Registry. Patients presenting within 24 hours of symptoms who received EVT were classified into mild (National Institutes of Health Stroke Scale [NIHSS] ≤5) or moderate/severe (NIHSS>5) categories. Differences in clinical characteristics and outcomes were evaluated using multivariable logistic regression. Results- Among 4110 EVT patients (median age, 73 [interquartile range=20] years; 50% women), 446 (11%) had NIHSS ≤5. Compared with NIHSS >5, those with NIHSS ≤5 arrived later to the hospital (median, 138 versus 101 minutes), were less likely to receive intravenous alteplase (30% versus 43%), had a longer door-to-puncture time (median, 167 versus 115 minutes) and more likely treated in South Florida (64% versus 53%). In multivariable analysis younger age, private insurance (versus Medicare), history of hypertension, prior independent ambulation and hospital size were independent characteristics associated with NIHSS ≤5. Among EVT patients with NIHSS ≤5, 76% were discharged home/rehabilitation and 64% were able to ambulate independently at discharge as compared with 53% and 32% of patients with NIHSS >5. Symptomatic intracerebral hemorrhage occurred in 4% of mild stroke EVT patients and 6.4% in those with NIHSS >5. Conclusions- Despite lack of evidence-based recommendations, 11% of patients receiving EVT in clinical practice have mild neurological presentations. Individual, hospital and geographic disparities are observed among endovascularly treated patients based on the severity of clinical symptoms. Our data suggest safety and overall favorable outcomes for EVT patients with mild stroke.

PMID: 31303151 [PubMed - as supplied by publisher]

Estimating outcome-exposure associations when exposure biomarker detection limits vary across batches.

Epidemiology. 2019 Jul 02;:

Authors: Boss J, Mukherjee B, Ferguson KK, Aker A, Alshawabkeh AN, Cordero JF, Meeker JD, Kim S

Abstract
Limit of detection (LOD) issues are ubiquitous in exposure assessment. While there is an extensive literature on modeling exposure data under such imperfect measurement processes, including likelihood-based methods and multiple imputation, the standard practice continues to be naïve single imputation by a constant (e.g. LOD2). In this paper, we consider the situation where, due to the practical logistics of data accrual, sampling, and resource constraints, exposure data are analyzed in multiple batches where the LOD and the proportion of censored observations differ across batches. Compounding this problem is the potential for non-random assignment of samples to each batch, often driven by enrollment patterns and biosample storage. This issue is particularly important for binary outcome data where batches may have different levels of outcome enrichment. We first consider variants of existing methods to address varying LODs across multiple batches. We then propose a likelihood-based multiple imputation strategy to impute observations that are below the LOD while simultaneously accounting for differential batch assignment. Our simulation study shows that our proposed method has superior estimation properties (i.e., bias, coverage, statistical efficiency) compared to standard alternatives, provided that distributional assumptions are satisfied. Additionally, in most batch assignment configurations, complete-case analysis can be made unbiased by including batch indicator terms in the analysis model, although this strategy is less efficient relative to the proposed method. We illustrate our method by analyzing data from a cohort study in Puerto Rico that is investigating the relationship between endocrine disruptor exposures and preterm birth.

PMID: 31299670 [PubMed - as supplied by publisher]

Changes in HIV Preexposure Prophylaxis Awareness and Use Among Men Who Have Sex with Men - 20 Urban Areas, 2014 and 2017.

MMWR Morb Mortal Wkly Rep. 2019 Jul 12;68(27):597-603

Authors: Finlayson T, Cha S, Xia M, Trujillo L, Denson D, Prejean J, Kanny D, Wejnert C, National HIV Behavioral Surveillance Study Group

Abstract
In February 2019, the U.S. Department of Health and Human Services proposed a strategic initiative to end the human immunodeficiency (HIV) epidemic in the United States by reducing new HIV infections by 90% during 2020-2030* (1). Phase 1 of the Ending the HIV Epidemic initiative focuses on Washington, DC; San Juan, Puerto Rico; and 48 counties where the majority of new diagnoses of HIV infection in 2016 and 2017 were concentrated and on seven states with a disproportionate occurrence of HIV in rural areas relative to other states.† One of the four pillars in the initiative is protecting persons at risk for HIV infection using proven, comprehensive prevention approaches and treatments, such as HIV preexposure prophylaxis (PrEP), which is the use of antiretroviral medications that have proven effective at preventing infection among persons at risk for acquiring HIV. In 2014, CDC released clinical PrEP guidelines to health care providers (2) and intensified efforts to raise awareness and increase the use of PrEP among persons at risk for infection, including gay, bisexual, and other men who have sex with men (MSM), a group that accounted for an estimated 68% of new HIV infections in 2016 (3). Data from CDC's National HIV Behavioral Surveillance (NHBS) were collected in 20 U.S. urban areas in 2014 and 2017, covering 26 of the geographic areas included in Phase I of the Ending the HIV Epidemic initiative, and were compared to assess changes in PrEP awareness and use among MSM. From 2014 to 2017, PrEP awareness increased by 50% overall, with >80% of MSM in 17 of the 20 urban areas reporting PrEP awareness in 2017. Among MSM with likely indications for PrEP (e.g., sexual risk behaviors or recent bacterial sexually transmitted infection [STI]), use of PrEP increased by approximately 500% from 6% to 35%, with significant increases observed in all urban areas and in almost all demographic subgroups. Despite this progress, PrEP use among MSM, especially among black and Hispanic MSM, remains low. Continued efforts to improve coverage are needed to reach the goal of 90% reduction in HIV incidence by 2030. In addition to developing new ways of connecting black and Hispanic MSM to health care providers through demonstration projects, CDC has developed resources and tools such as the Prescribe HIV Prevention program to enable health care providers to integrate PrEP into their clinical care.§ By routinely testing their patients for HIV, assessing HIV-negative patients for risk behaviors, and prescribing PrEP as needed, health care providers can play a critical role in this effort.

PMID: 31298662 [PubMed - in process]

Emerging Public Health Law and Policy Issues Concerning State Medical Cannabis Programs.

J Law Med Ethics. 2019 Jun;47(2_suppl):108-111

Authors: Tilburg WC, Hodge JG, Gourdet C

Abstract
Thirty-four states, the District of Columbia, and Puerto Rico have legalized medical cannabis. While no two state medical cannabis programs are alike, public health concerns related to advertising, packaging and labeling, pesticide use, scientific research, and the role of medical cannabis in the opioid crisis are emerging across the country. This article examines these issues, the policy approaches states are adopting to protect patients and the public, and an assessment of the underlying federal legal landscape.

PMID: 31298127 [PubMed - in process]

From Treatment to Containment to Enterprise: An Ethno-history of Therapeutic Communities in Puerto Rico, 1961-1993.

Cult Med Psychiatry. 2019 Jul 11;:

Authors: Parker CM

Abstract
Unpaid work is now a central therapy in Puerto Rican therapeutic communities, where substance users reside and seek to rehabilitate each other, often for years at a time. Once a leading treatment for addiction in mainland United States, therapeutic communities were scaled back in the 1970s after they lost federal endorsement. They continue to flourish in Puerto Rico for reasons that have less to do with their curative powers than with their malleability as multi-purpose social enterprises and their historical co-option by state, market and family actors who have deployed them for a variety of purposes. Their endurance from the 1960s to the neoliberal present obliges us to recognize their capacities as what Mizruchi calls abeyance mechanisms whereby 'surplus' populations, otherwise excluded from labor and home, are absorbed into substitute livelihoods. Having initially emerged as a low-cost treatment, in a context of mass unemployment and prison-overcrowding they now thrive as institutions of containment and informal enterprise.

PMID: 31297717 [PubMed - as supplied by publisher]

Sequence and immunologic conservation of Anaplasma marginale OmpA within strains from Ghana as compared to the predominant OmpA variant.

PLoS One. 2019;14(7):e0217661

Authors: Futse JE, Buami G, Kayang BB, Koku R, Palmer GH, Graça T, Noh SM

Abstract
A primary challenge in developing effective vaccines against obligate, intracellular, bacterial tick-borne pathogens that establish persistent infection is the identification of antigens that cross protect against multiple strains. In the case of Anaplasma marginale, the most prevalent tick-borne pathogen of cattle found worldwide, OmpA is an adhesin and thus a promising vaccine candidate. We sequenced ompA from cattle throughout Ghana naturally infected with A. marginale in order to determine the degree of variation in this gene in an area of suspected high genetic diversity. We compared the Ghanaian sequences with those available from N. America, Mexico, Australia and Puerto Rico. When considering only amino acid changes, three unique Ghanaian OmpA variants were identified. In comparison, strains from all other geographic regions, except one, shared a single OmpA variant, Variant 1, which differed from the Ghanaian variants. Next, using recombinant OmpA based on Variant 1, we determined that amino acid differences in OmpA in Ghanaian cattle as compared to OmpA Variant 1 did not alter the binding capacity of antibody directed against OmpA Variant 1, supporting the value of OmpA as a highly conserved vaccine candidate.

PMID: 31291256 [PubMed - in process]

Variation across river channels in demographic dynamics of a riparian herb with threatened status: management and conservation implications.

Am J Bot. 2019 Jul 07;:

Authors: Pérez ME, Meléndez-Ackerman EJ, Monsegur-Rivera OA

Abstract
PREMISE: Gesneria pauciflora is a rare, threatened plant in riparian forests. Periodic disturbances, expected in this habitat, could influence demographic dynamics on plant populations, yet their impact may not be the same across the watershed. We hypothesized that differences in disturbances between the main channel and tributaries may lead to spatial dissimilarities in population growth rate (λ), structure, and fecundity.
METHODS: In the Maricao River Watershed in Puerto Rico, 1277 plants were tagged and monitored for 1.5 years. Every 6 months, we measured plant size and recorded survival, fecundity, and appearance of seedlings. These variables were used in integral projection models to assess the population status of G. pauciflora.
RESULTS: Plants in the main channel were smaller but more likely to flower and fruit than those in the tributaries. Overall mortality was greater in the main channel and greater during the rainy season. At both sites, λ ranged from 0.9114 to 0.9865, and survival/growth of larger plants had a greater effect on λ (>0.90) regardless of site.
CONCLUSIONS: Values for population growth rates suggest that G. pauciflora is declining across the watershed. Higher mortality rates in the main channel (more-perturbed sites) might drive G. pauciflora to reproduce at smaller sizes, while tributaries (less-perturbed sites) might be better for growth and lead to larger plant sizes. Extreme climatic events are expected to increase in the Caribbean and might decrease the population if the population is left unmanaged. Management strategies that reduce the time plants require to reach larger sizes might be necessary to increase λ, and reintroduction using cuttings might be a possible solution.

PMID: 31281957 [PubMed - as supplied by publisher]

International survey of contact lens fitting for myopia control in children.

Cont Lens Anterior Eye. 2019 Jul 03;:

Authors: Efron N, Morgan PB, Woods CA, Santodomingo-Rubido J, Nichols JJ, International Contact Lens Prescribing Survey Consortium

Abstract
PURPOSE: To determine the extent of contact lens fitting for myopia control (MC) in children (defined as ≤ 17 years of age) worldwide and to characterize the associated demographics and fitting patterns.
METHODS: Survey forms were sent to contact lens fitters in 66 countries between January and March every year for eight consecutive years (2011-2018, inclusive). Practitioners were asked to record data relating to the first 10 contact lens fits performed after receiving the survey form. Data were analysed for those countries reporting ≥ 100 contact lens fits to children.
RESULTS: Data were analysed for 535 MC fits and 23,830 other (non-MC) lens fits undertaken in 31 countries reporting ≥ 100 contact lens fits to children, with 52.1% of MC fits and 12.0% of non-MC fits being with rigid lenses (p < 0.0001). Overall, MC lenses represented 2.3% of all contact lens fits to children, with significant differences between nations (p < 0.0001), ranging from no MC fits recorded in the Czech Republic, Greece, Japan, South Korea and Puerto Rico, to 24.9% in Austria. There has been an increase in contact lens fitting for MC over the survey period (p < 0.0001). MC contact lenses were fitted to younger children compared to non-MC lenses (MC, median 13 years vs. non-MC, median 15 years) (p < 0.0001). There was no sex bias in the fitting of MC lenses (p = 0.89).
CONCLUSIONS: MC lenses are currently being prescribed for younger children in equal measure in terms of soft vs. rigid lenses and males vs. females. The extent of MC fitting is low and varies between nations. The gradual increase in MC fitting throughout the survey period perhaps reflects growing concerns among practitioners over the myopia epidemic.

PMID: 31279577 [PubMed - as supplied by publisher]

The Puerto Rico Alzheimer Disease Initiative (PRADI): A Multisource Ascertainment Approach.

Front Genet. 2019;10:538

Authors: Feliciano-Astacio BE, Celis K, Ramos J, Rajabli F, Adams LD, Rodriguez A, Rodriguez V, Bussies PL, Sierra C, Manrique P, Mena PR, Grana A, Prough M, Hamilton-Nelson KL, Feliciano N, Chinea A, Acosta H, McCauley JL, Vance JM, Beecham GW, Pericak-Vance MA, Cuccaro ML

Abstract
Introduction: Puerto Ricans, the second largest Latino group in the continental US, are underrepresented in genomic studies of Alzheimer disease (AD). To increase representation of this group in genomic studies of AD, we developed a multisource ascertainment approach to enroll AD patients, and their family members living in Puerto Rico (PR) as part of the Alzheimer's Disease Sequencing Project (ADSP), an international effort to advance broader personalized/precision medicine initiatives for AD across all populations.
Methods: The Puerto Rico Alzheimer Disease Initiative (PRADI) multisource ascertainment approach was developed to recruit and enroll Puerto Rican adults aged 50 years and older for a genetic research study of AD, including individuals with cognitive decline (AD, mild cognitive impairment), their similarly, aged family members, and cognitively healthy unrelated individuals age 50 and up. Emphasizing identification and relationship building with key stakeholders, we conducted ascertainment across the island. In addition to reporting on PRADI ascertainment, we detail admixture analysis for our cohort by region, group differences in age of onset, cognitive level by region, and ascertainment source.
Results: We report on 674 individuals who met standard eligibility criteria [282 AD-affected participants (42% of the sample), 115 individuals with mild cognitive impairment (MCI) (17% of the sample), and 277 cognitively healthy individuals (41% of the sample)]. There are 43 possible multiplex families (10 families with 4 or more AD-affected members and 3 families with 3 AD-affected members). Most individuals in our cohort were ascertained from the Metro, Bayamón, and Caguas health regions. Across health regions, we found differences in ancestral backgrounds, and select clinical traits.
Discussion: The multisource ascertainment approach used in the PRADI study highlights the importance of enlisting a broad range of community resources and providers. Preliminary results provide important information about our cohort that will be useful as we move forward with ascertainment. We expect that results from the PRADI study will lead to a better understanding of genetic risk for AD among this population.

PMID: 31275353 [PubMed]

Time of Surgery in the Outcome of Cervical Spinal Cord Injury: the University of Puerto Rico Experience.

P R Health Sci J. 2019 Jun;38(2):109-112

Authors: Mayol M, Saavedra FM, Alcedo R, Murray G, Pastrana EA

Abstract
OBJECTIVE: The purpose of this study was to determine the effect of the timing of surgery on the neurological function of patients with a cervical spinal cord injury.
METHODS: Retrospectively, an analysis was done of patients who underwent decompression and/or spinal cord stabilization surgeries from 2010 through 2014 for cervical trauma. All patients were older than 18 years of age, had had surgery at our facility, and had made at least 1 follow-up visit. American Spinal Injury Association (ASIA) Impairment Scale (AIS) scores were compared for patients who underwent early surgeries (less than 72 hours after trauma) and for those who underwent late surgeries (more than 72 hours after trauma).
RESULTS: There were a total of 107 patients. Sixty-two patients had spinal cord injuries. The average age was 38.6 years, and 84% of the participants were male. The most common mechanism of trauma was motor vehicle accident. Twenty-nine percent of the patients developed neurogenic shock and 27% experienced respiratory failure during the first week after admission. Seventeen patients died during the study period. A multivariate analysis of AIS score improvement revealed that the only significant factor was incomplete neurological injury. There was no significant difference in the percentage of patients that improved with early surgery compared to that of those that improved after late surgery.
CONCLUSION: Traumatic cervical spinal cord injury is associated with high mortality and morbidity. Early surgery was not associated with an improved neurological outcome at long-term follow-up. The benefit of early surgery was seen only in terms of decreasing each patient's length of hospital stay.

PMID: 31260555 [PubMed - in process]

A Clinical Study on Cadaveric Kidney Donors in Puerto Rico and the Survival outcome of the grafts: a retrospective study of 187 kidneys from 2009-2011.

P R Health Sci J. 2019 Jun;38(2):92-96

Authors: Michelen-Gómez E, Ramos R, Ruiz J, Morales L, Saade M, Torres EA

Abstract
OBJECTIVE: In this study, we assessed the Kidney Donor Risk Index (KDRI) in Puerto Rican deceased kidney donors whose donations took place from 2009 to 2011 and evaluated short-term graft survival in the recipients of those kidneys. The results highlight differences between the distributions of KDRI values in the populations of the 48 contiguous states of the United States, Alaska, and Hawaii and that of Puerto Rico. Additionally, we evaluated the impacts of polyomavirus (BKV) infection and anti-donor HLA antibodies on the recipients.
METHODS: Of the 377 kidneys obtained from deceased donors by LifeLink of Puerto Rico from 2009 to 2011, 187 were transplanted in Puerto Rico. Data was collected from the deceased donors of these 187 kidneys for calculating KDRI, as well as from the transplant recipients. KDRI values of the donors were calculated using the same formula as previously reported for the United States; death-censored graft survival, incidence of antibody-mediated rejection, and prevalence of polyoma virus infection (BKV) were examined in the recipients.
RESULTS: The mean KDRI value was 1.19. However, the distribution of KDRI values in the Puerto Rican population deviates substantially from that of the United States (not including Puerto Rico). A 1-peak distribution pattern describes Puerto Rican KDRI values. Graft survival for the study period was 89.6%. The prevalence of BKV was 16.9%. Of the patients studied, 6.25% developed overt nephropathy, 46.2% developed de novo post-transplant donor-specific alloantibodies, and 19.5% had pre-existing alloantibodies.
CONCLUSION: Our study evidences the role of various characteristics in the distribution of KDRI values in the Puerto Rican population, suggesting that the identification of variables specific to a geographically distinct group may result in better donor categorization for predicting transplant outcomes. In addition, our graft-survival results, despite the elevated rates of BKV and anti-donor antibodies, highlight the increasing need to monitor the presence of antibodies in a prospective and an anticipatory manner to identify and manage patients at risk for antibodymediated rejection.

PMID: 31260552 [PubMed - in process]

Age-Specific Reference Ranges for Serum Prostate-Specific Antigen in Puerto Rican Men with Proven Prostate Cancer.

P R Health Sci J. 2019 Jun;38(2):87-91

Authors: Esteban EP, Rivera A, Rivera-Rodriguez J

Abstract
OBJECTIVE: The purpose of this research was to carry out a statistical study (the first such) of prostate-specific antigen (PSA) levels in Puerto Rican men (including residents of Puerto Rico not born on the island) with proven prostate cancer (PC). We also sought to propose new age-specific PSA reference ranges to improve the diagnosis and prognosis of PC.
METHODS: In order to address our objectives, a PSA statistical analysis of 16,305 Puerto Rican men (from 2004-2012) with proven PC was carried out.
RESULTS: For all Puerto Rican PC patients, PSA statistical central measures and variability were determined. For instance, the mean, median, mode, index of dispersion (ID), and interquartile range (IQR) had the values 16.9 ng/mL, 7.2 ng/mL, 4.5 ng/mL, 3.1 ng/mL, and 11.3 ng/mL, respectively. The ID values suggest significant PSA data variability, and the IQR values show that the PSA data are over-dispersed. We found the median age specific PSA reference ranges and confidence interval (CI) for all Puerto Rican men with proven PC. Also, we obtained the median PSA level and CI of Puerto Rican men with proven PC in 2 ranges (0<PSA<4 ng/mL) and (4 ng/mL<PSA<98 ng/mL).
CONCLUSION: The main objectives of this research were achieved. First, a statistical study of PSA levels in Puerto Rican men with proven PC was conducted. Second, 2 new age-specific PSA reference ranges were obtained in order to improve decision making and medical treatment in PC.

PMID: 31260551 [PubMed - in process]

Identifying Robust Autism Indicators for Latino Children.

P R Health Sci J. 2019 Jun;38(2):71-74

Authors: Linares-Orama N, Miranda K, Romero A

Abstract
OBJECTIVE: This study was aimed at identifying those items in the "Childhood Autism Rating Scale" (CARS) that are more robust indicators of the probable existence of an Autism Spectrum Disorder (ASD) in Latino children.
METHODS: CARS data from 53 randomly selected children, who were evaluated at the FILIUS Institute in San Juan, Puerto Rico, were analyzed. Individual scores of CARS items were compared against the final diagnosis for the presence or absence of an ASD in these children to determine the items with the highest positive correlation with the diagnosis.
RESULTS: This analysis yielded 4 CARS items with the highest positive correlations (listed in descending order from a highest to the lowest correlation): Item 2- Imitation; Item 1- Relating to People; Item 5- Object Use; and Item 4- Body Use.
CONCLUSION: These data are used to recommend a simplified Latino ASD screening procedure that can be managed by pediatricians and other primary care givers (with a limited time and skills to screen children from Latino families) during routine care visits; this will assist them in making referrals for an ASD diagnostic evaluation, based on this screening.

PMID: 31260548 [PubMed - in process]

Incidence of thyroid cancer in Puerto Rico and the US by racial/ethnic group, 2011-2015.

BMC Cancer. 2019 Jun 28;19(1):637

Authors: Tortolero-Luna G, Torres-Cintrón CR, Alvarado-Ortiz M, Ortiz-Ortiz KJ, Zavala-Zegarra DE, Mora-Piñero E

Abstract
BACKGROUND: Puerto Rico has the highest incidence rate of thyroid cancer (TC) in the Americas and the third highest rate worldwide. The purpose of this study was to compare the burden of TC between the population of PR and United States (US) non-Hispanic Whites (NHW), non-Hispanic Blacks (NHB), and US Hispanics (USH) during the period 2011-2015.
METHODS: TC data for the period 2011-2015 was obtained from the Puerto Rico Central Cancer Registry (PRCCR) and the Surveillance Epidemiology and Ends Results Program (SEER) 18 Registries Research Data. TC was categorized in: papillary carcinoma (PTC), and other TC histologic types. Data was analyzed by sex, age groups, and histologic type. Racial/ethnic differences by sex, age, and histologic types were assessed using the Standardized Rate Ratio (SRR) and its 95% CI.
RESULTS: During the period 2011-2015 there were 5175 and 65,528 cases of TC diagnosed in PR and the US, respectively. The overall age-adjusted incidence rate of PTC was almost two-fold higher in PR than in the US (25.8/100,000 vs. 12.9/100,000). Among PR women, the incidence rate of PTC was 40.0/100,000 compared to 19.4/100,000 in US. PR women had 83% increased risk of being diagnosed with PTC than NHW women, a 2.25-fold increased risk than USH, and 3.45-fold increased risk than NHB women. For men, PR had 34% increased risk of being diagnosed with PTC than NHW men, 2.2-fold increased risk than USH men, and 3.2-fold higher risk than in NHB men.
CONCLUSION: Further research is needed to understand this disparity in the island. This research should address the extent of overdiagnosis in PR, the role of health insurance status and insurance type, characteristics of the healthcare delivery system as well as the role of patient and environmental factors.

PMID: 31253133 [PubMed - in process]