Effectiveness of a cognitive-behavioral group therapy for complicated grief in relatives of patients with cancer: A randomized clinical trial.

INTRODUCTION: Complicated grief can affect a large number of individuals who have lost a relative due to cancer. OBJECTIVES: To assess the efficacy of a cognitive-behavioral grief therapy (CBGT) group for complicated grief (CG) in those who have lost a relative due to cancer in comparison with a psychoeducational and emotional expression intervention group (PSDEEI). METHODS: A randomized clinical trial was used, in which 249 relatives of deceased cancer patients with CG were randomly assigned to CBGT or PSDEEI. Complicated grief (Inventory of Complicated Grief [ICG]), depression (Beck Depression Inventory [BDI-II]), hopelessness (Beck Hopelessness Scale [BHS]), anxiety (Beck Anxiety Inventory [BAI]) symptoms, and general health (Goldberg's General Health Questionnaire [GHQ28]) were assessed at pretreatment, posttreatment, and follow-up at 6 and 12 months. RESULTS: The CBGT group improved significantly (p < 0.001), with the scores in ICG, BDI-II, BAI, BHS, and GHQ28 (p < 0.001) being higher than those for the PSDEEI group in each of the assessed moments, with high effect sizes: ICG (η2 = 0.16), BDI (η2 = 0.10), BAI (η2 = 0.06), BHS (η2 = 0.21), and GHQ28 (η2 = 0.21). At the 12-month follow-up, the number of cases of CG decreased by 81.1% for the CBGT group vs. 31.7% in the PSDEEI group. SIGNIFICANCE OF RESULTS: The CBGT treatment was effective for CG, depression, anxiety, and hopelessness symptoms and for mental health and was superior to the PSDEEI treatment.

Psychological well-being in palliative care: A systematic review.

OBJECTIVE: To review which are the most influential variables in achieving levels of psychological well-being at the end of life and to verify whether, as certain studies suggest, spirituality, resilience and social support are the pillars on which the psychological well-being construct is based. METHOD: A systematic search through the Scopus, Pubmed and PsycInfo electronic databases was carried out using keywords such as: "wellbeing" OR "psychological-well-being" AND "resilience" AND "spirituality" AND "social support" AND "palliative care" and their multiple combinations. RESULTS: Eleven studies were selected, in which terms such as spiritual well-being, absence of discomfort and quality of life were used in substitution of psychological well-being and a certain consensus was found regarding whether resilience, spirituality and social support are predictive variables of psychological well-being. CONCLUSIONS: Resilience, social support and spirituality are highly relevant variables at the end of life and contribute decisively towards psychological well-being.

Predictors of Complicated Grief in Caregivers of Palliative Care Patients.

Introduction: It is important to identify the factors s associated with complicated grief (CG) in order to prevent it. Objective: To determine the factors associated with CG in the end-of-life phase within the palliative care context. Method: The PRISMA model was followed for the review. We accessed the following databases: PUBMED, SCOPUS, and PsycoINFO, to review publications from 2006. Results: A total of 17 studies were obtained. A direct relationship between factors prior to bereavement and CG is established: intensity of anticipated grief, previous mental and physical health of the caregiver, social support; quality of patient care, communication at the end-of-life, preparation for death, spirituality, and sociodemographic factors. Conclusions: Previous mental health and level of anticipatory grief in the main caregiver are shown to be the most powerful predictors of CG. Patient age and quality of care are factors considered as strong predictors of CG in almost every study.

Spanish Version of the Death Attitude Profile-Revised. Translation and Validation Into Spanish.

The Death Attitude Profile-Revised (DAP-R) was developed in English-speaking cultures with the aim of measuring attitudes towards death. This measure consists of 32 items, grouped into five factors (Fear of Death, Avoidance of Death, Neutral Acceptance, Approach Acceptance, and Escape Acceptance). The DAP-R was translated and adapted to Spanish (DAP-RSp), and the psychometric properties were analyzed accross a general sample. The face validity was evaluated by 20 experts in palliative care. N = 417 (X = 39.06 years) took part in the validation. DAP-RSp showed adequate internal consistency (Cronbach's alpha ranging from 0.67 for Neutral Acceptance to 0.95 for Escape a Acceptance, and 0.88 for the total), a multitrait scaling analysis and a confirmatory factor analysis reproduced the five dimensions of the original scale. The Spanish version of the DAP-R can be used as a valid scale to assess attitudes towards death in Spanish speaking population.

A screening method for sleep disturbances at the end-of-life.

OBJECTIVE: To evaluate sleep disturbances and to verify the accuracy of three screening tests to detect them in patients at the end-of-life admitted in a hospital palliative care unit. METHOD: The level of sleep disturbances was evaluated through the Pittsburgh Sleep Quality Index (PSQI) in 150 palliative patients. This questionnaire was the criterion variable for testing the three screening tests used: Edmonton Symptom Assessment System (ESAS-Sleep subscale); the single question "How much do you worry about your sleep problems?" which is answered on a scale of 0-10 (Sleep-Worry-Q) and another single question: "Do you think you have sleep problems?" with two response categories, Yes/No (Sleep-Problem-Q). RESULTS: According to the PSQI (cut-off point: 8), 87% of patients presented sleep disturbances. The ESAS-Sleep (cut-off point: 3) showed a sensitivity of 0.87, a specificity of 0.58, and an AUC of 0.729; the Sleep-Worry-Q (cut-off point: 4) showed a sensitivity of 0.95, a specificity of 0.68, and an AUC of 0.854; the Sleep-Problem-Q obtained a sensitivity of 0.92 and a specificity of 0.65. SIGNIFICANCE OF RESULTS: Patients at the end-of-life, near the time of death, have high levels of sleep disturbances that can be detected early, with better diagnostic accuracy, with the Sleep-Worry-Q. Although from a clinical point of view, the application of the Sleep-Problem-Q may be more advantageous, as it presents good diagnostic accuracy, greater simplicity, and brevity.

Use of hypnosis for the placement of a midline catheter in a patient at the end of life.

OBJECTIVE: The case of a non-oncological patient at the end of his life, admitted to a Palliative Care Unit (PCU), is presented. After a failed attempt to place a central venous catheter (CVC) and another placement of a peripherally inserted central catheter (PICC), the patient exhibited high anxiety regarding a midline catheter (MC) and refused its placement, even though this was necessary for the administration of intravenous drugs to control dyspnea and other complex symptoms that he presented. METHOD: An intervention through clinical hypnosis for successful MC placement and symptom control is described. RESULT: Through clinical hypnosis and interdisciplinary teamwork, it was possible to place a MC, necessary for symptomatic control of a complex patient. SIGNIFICANCE OF RESULT: This case exemplifies hypnosis as a simple procedure that is easy to apply, accepted by the patient, and effective in the implementation of invasive procedures and symptom control in PCUs.

Mental disorder screening on cancer patients before and after radiotherapy and at the 1-month follow-up.

BACKGROUND: The aim was to study the accuracy of different screening tests to detect psychopathological disorders in cancer patients treated with radiotherapy before (T1) and after radiotherapy (T2), and at the 1-month follow-up (T3). METHODS: The Mini International Neuropsychiatric Interview (MINI), the Hospital Anxiety and Depression Scale (HADS), and the distress thermometer (DT) (0-10) were administered, together with a depression scale (DEPQ) (1-5), an anxiety scale (ANSQ) (1-5), and a physical symptoms questionnaire, to patients treated with radiotherapy at T1 (232 participants), T2 (130 participants), and T3 (130 participants). RESULTS: The accuracy of the screening tests was higher at T2, with the HADS-T test (cut-off ≥ 10) yielding the best results: sensitivity = 0.80, specificity = 0.92, with an excellent AUC (0.91). The DT test (cut-off ≥ 4) showed a sensitivity = 0.66, a specificity = 0.91, and an AUC = 0.825, and the DEPQ (cut-off > 1) yielded a sensitivity = 0.74, a specificity = 0.78, and an AUC = 0.776. The ANSQ (cut-off > 1) showed a sensitivity = 0.60, a specificity = 0.97, and an AUC = 0.831. At T1 and T3, the sensitivity tests were unsatisfactory. The increase in sensitivity at T2 may be due to an increase of physical symptoms at such time, which occurred more frequently in those patients who scored higher on screening tests and showed mental disorders. CONCLUSIONS: The diagnostic accuracy of the screening tests was higher at T2. At this time, HADS-T proved to be a good screening instrument; whereas at T1 and T3, screening instruments were only useful to detect cases without mental disorders, but not to identify those who suffer from them.

A Mainly Circum-Mediterranean Origin for West Eurasian and North African mtDNAs in Puerto Rico with Strong Contributions from the Canary Islands and West Africa.

Maternal lineages of West Eurasian and North African origin account for 11.5% of total mitochondrial ancestry in Puerto Rico. Historical sources suggest that this ancestry arrived mostly from European migrations that took place during the four centuries of the Spanish colonization of Puerto Rico. This study analyzed 101 mitochondrial control region sequences and diagnostic coding region variants from a sample set randomly and systematically selected using a census-based sampling frame to be representative of the Puerto Rican population, with the goal of defining West Eurasian-North African maternal clades and estimating their possible geographical origin. Median-joining haplotype networks were constructed using hypervariable regions 1 and 2 sequences from various reference populations in search of shared haplotypes. A posterior probability analysis was performed to estimate the percentage of possible origins across wide geographic regions for the entire sample set and for the most common haplogroups on the island. Principal component analyses were conducted to place the Puerto Rican mtDNA set within the variation present among all reference populations. Our study shows that up to 38% of West Eurasian and North African mitochondrial ancestry in Puerto Rico most likely migrated from the Canary Islands. However, most of those haplotypes had previously migrated to the Canary Islands from elsewhere, and there are substantial contributions from various populations across the circum-Mediterranean region and from West African populations related to the modern Wolof and Serer peoples from Senegal and the nomad Fulani who extend up to Cameroon. In conclusion, the West Eurasian mitochondrial ancestry in Puerto Ricans is geographically diverse. However, haplotype diversity seems to be low, and frequencies have been shaped by population bottlenecks, migration waves, and random genetic drift. Consequently, approximately 47% of mtDNAs of West Eurasian and North African ancestry in Puerto Rico probably arrived early in its colonial history.

Reconstructing Native American migrations from whole-genome and whole-exome data.

There is great scientific and popular interest in understanding the genetic history of populations in the Americas. We wish to understand when different regions of the continent were inhabited, where settlers came from, and how current inhabitants relate genetically to earlier populations. Recent studies unraveled parts of the genetic history of the continent using genotyping arrays and uniparental markers. The 1000 Genomes Project provides a unique opportunity for improving our understanding of population genetic history by providing over a hundred sequenced low coverage genomes and exomes from Colombian (CLM), Mexican-American (MXL), and Puerto Rican (PUR) populations. Here, we explore the genomic contributions of African, European, and especially Native American ancestry to these populations. Estimated Native American ancestry is 48% in MXL, 25% in CLM, and 13% in PUR. Native American ancestry in PUR is most closely related to populations surrounding the Orinoco River basin, confirming the Southern American ancestry of the Taíno people of the Caribbean. We present new methods to estimate the allele frequencies in the Native American fraction of the populations, and model their distribution using a demographic model for three ancestral Native American populations. These ancestral populations likely split in close succession: the most likely scenario, based on a peopling of the Americas 16 thousand years ago (kya), supports that the MXL Ancestors split 12.2kya, with a subsequent split of the ancestors to CLM and PUR 11.7kya. The model also features effective populations of 62,000 in Mexico, 8,700 in Colombia, and 1,900 in Puerto Rico. Modeling Identity-by-descent (IBD) and ancestry tract length, we show that post-contact populations also differ markedly in their effective sizes and migration patterns, with Puerto Rico showing the smallest effective size and the earlier migration from Europe. Finally, we compare IBD and ancestry assignments to find evidence for relatedness among European founders to the three populations.

Reconstructing the population genetic history of the Caribbean.

The Caribbean basin is home to some of the most complex interactions in recent history among previously diverged human populations. Here, we investigate the population genetic history of this region by characterizing patterns of genome-wide variation among 330 individuals from three of the Greater Antilles (Cuba, Puerto Rico, Hispaniola), two mainland (Honduras, Colombia), and three Native South American (Yukpa, Bari, and Warao) populations. We combine these data with a unique database of genomic variation in over 3,000 individuals from diverse European, African, and Native American populations. We use local ancestry inference and tract length distributions to test different demographic scenarios for the pre- and post-colonial history of the region. We develop a novel ancestry-specific PCA (ASPCA) method to reconstruct the sub-continental origin of Native American, European, and African haplotypes from admixed genomes. We find that the most likely source of the indigenous ancestry in Caribbean islanders is a Native South American component shared among inland Amazonian tribes, Central America, and the Yucatan peninsula, suggesting extensive gene flow across the Caribbean in pre-Columbian times. We find evidence of two pulses of African migration. The first pulse--which today is reflected by shorter, older ancestry tracts--consists of a genetic component more similar to coastal West African regions involved in early stages of the trans-Atlantic slave trade. The second pulse--reflected by longer, younger tracts--is more similar to present-day West-Central African populations, supporting historical records of later transatlantic deportation. Surprisingly, we also identify a Latino-specific European component that has significantly diverged from its parental Iberian source populations, presumably as a result of small European founder population size. We demonstrate that the ancestral components in admixed genomes can be traced back to distinct sub-continental source populations with far greater resolution than previously thought, even when limited pre-Columbian Caribbean haplotypes have survived.

Longitudinal study of cognitive dysfunctions induced by adjuvant chemotherapy in colon cancer patients.

BACKGROUND: Chemotherapy can induce cognitive impairment in cancer patients. The main goal of this longitudinal study was to determine the incidence, characteristics, and duration of cognitive dysfunction in patients treated with adjuvant chemotherapy for colon cancer. PATIENTS AND METHODS: We assessed cognitive function, quality of life, anxiety and depression, fatigue, and hemoglobin levels in colon cancer patients at three assessment points: pre-chemotherapy (n=81), post-chemotherapy (n=73), and after 6-month follow-up (n=54). All patients were treated with oxaliplatin plus 5-fluorouracil/leucovorin (FOLFOX4) for 6 months. RESULTS: Thirty patients (37%) had cognitive impairment in the pre-chemotherapy evaluation, mainly in processing speed and psychomotor executive function (Trail Making Test A and B). At the end of treatment, the main domain affected was the verbal memory, with an acute decline detected in 56% of patients. Fifty-four percent of the patients improved their dysfunction after 6 months of follow-up, whereas 18 (33%) of them showed worsening in at least one test. Cognitive impairment was most common in older patients and in those with less years of education. Quality of life, anxiety, depression, fatigue, and hemoglobin did not influence the results of the cognitive tests. CONCLUSIONS: Adjuvant FOLFOX4 in patients with colon cancer can have a negative effect on verbal memory. This deterioration is usually mild and transient.

A Custom-Made Newborn Screening Test for Wilson's Disease in Puerto Rico.

Background Wilson's disease (WD) is an autosomal recessive progressive, disabling, life-threatening disease. Although early diagnosis and treatment can halt disease progression and reverse disability, diagnosis is often challenging, with a mean diagnostic delay of approximately two years. At least 98% of WD-causing variants are in the ATPase copper transporting beta (ATP7B) gene. Identifying ATP7B mutations that cause WD in Puerto Rico will allow newborn screening for WD, as well as preventive, life-saving treatment. Methodology TaqMan genotyping assays were performed on 174 random volunteers in southwestern Puerto Rico and on three independent WD cases for rs367956522 and rs140708492, single-nucleotide polymorphisms (SNPs) composing a WD-causing haplotype. A polymerase chain reaction followed by Sanger DNA sequencing confirmed the case genotypes. Bioinformatics analyses were performed on ATP7B polymorphisms present in The 1000 Genomes Project (1KGP) database for Puerto Rico. Results rs367956522 is always inherited together with rs140708492 but not vice versa. The three independent WD cases were homozygous for both SNPs, but the evidence strongly suggested that rs367956522 is the pathogenic variant. The 1KGP database revealed the presence of only one other likely pathogenic ATP7B variant, rs191312027 (Gly869Arg). Together, both variants may be responsible for causing WD in one of every 14,156 Puerto Ricans. Both are likely of European origin. Conclusions Genotyping probes for both variants are readily commercially available. Thus, rapid, inexpensive newborn screening for rs367956522 and rs191312027 is strongly recommended. Although these two variants may account for all or the vast majority of WD cases in Puerto Rico, other ATP7B polymorphisms described or not described in this study might also be pathogenic.

Preoperative detection and evaluation of the need for psychological intervention in cancer and non-cancer patients referred to thoracic surgery.

OBJECTIVES: (a) to evaluate and compare the psychological treatment needs of patients with cancer and non-cancer, who are going to undergo scheduled thoracic surgery, and (b) evaluate and compare the diagnostic accuracy of the screening tests of psychological treatment needs for cancer and non-cancer patients. METHOD: The need for psychological treatment was evaluated in a total of 169 patients prior to thoracic surgery, through a clinical interview. The screening tests used were: the physician's judgment (yes/no), the Hospital Anxiety and Depression Scale (HADS) and, the single-item interview to assess depression "Do you feel depressed?" (DEPQ). RESULTS: The number of patients who needed psychological treatment in the total sample was 47 (27.81%), in non-cancer-patients: 22 (30.99%) and in cancer patients: 25 (25.51%). The participants with treatment needs were more often young women with primary education levels, with more fears and concerns regarding their disease. With respect to the screening tests, the HADS-T (cut-off point ≥13) obtained a sensitivity (SE) of 0.75 and Specificity (SP) of 0.81 in the total sample. In patients with cancer, the HADS total score (cut-off point ≥10) obtained an SE=0.84 and SP=0.80, and, in non-cancer patients, the HADS total score (cut-off point ≥13) showed an SE=0.59 and SP=0.84. The DEPQ and the physician's judgment did not achieve adequate levels of precision. CONCLUSIONS: A high percentage of patients have psychological treatment needs before performing thoracic surgery, which are similar for cancer and non-cancer patients. Preoperative detection of patients who need psychological intervention is feasible with a simple screening test: HADS, which achieves greater precision in cancer patients.

The QChip1 knowledgebase and microarray for precision medicine in Qatar.

Risk genes for Mendelian (single-gene) disorders (SGDs) are consistent across populations, but pathogenic risk variants that cause SGDs are typically population-private. The goal was to develop "QChip1," an inexpensive genotyping microarray to comprehensively screen newborns, couples, and patients for SGD risk variants in Qatar, a small nation on the Arabian Peninsula with a high degree of consanguinity. Over 108 variants in 8445 Qatari were identified for inclusion in a genotyping array containing 165,695 probes for 83,542 known and potentially pathogenic variants in 3438 SGDs. QChip1 had a concordance with whole-genome sequencing of 99.1%. Testing of QChip1 with 2707 Qatari genomes identified 32,674 risk variants, an average of 134 pathogenic alleles per Qatari genome. The most common pathogenic variants were those causing homocystinuria (1.12% risk allele frequency), and Stargardt disease (2.07%). The majority (85%) of Qatari SGD pathogenic variants were not present in Western populations such as European American, South Asian American, and African American in New York City and European and Afro-Caribbean in Puerto Rico; and only 50% were observed in a broad collection of data across the Greater Middle East including Kuwait, Iran, and United Arab Emirates. This study demonstrates the feasibility of developing accurate screening tools to identify SGD risk variants in understudied populations, and the need for ancestry-specific SGD screening tools.

Genetic diversity and selection in Puerto Rican horses.

Since the first Spanish settlers brought horses to America centuries ago, several local varieties and breeds have been established in the New World. These were generally a consequence of the admixture of the different breeds arriving from Europe. In some instances, local horses have been selectively bred for specific traits, such as appearance, endurance, strength, and gait. We looked at the genetics of two breeds, the Puerto Rican Non-Purebred (PRNPB) (also known as the "Criollo") horses and the Puerto Rican Paso Fino (PRPF), from the Caribbean Island of Puerto Rico. While it is reasonable to assume that there was a historic connection between the two, the genetic link between them has never been established. In our study, we started by looking at the genetic ancestry and diversity of current Puerto Rican horse populations using a 668 bp fragment of the mitochondrial DNA D-loop (HVR1) in 200 horses from 27 locations on the island. We then genotyped all 200 horses in our sample for the "gait-keeper" DMRT3 mutant allele previously associated with the paso gait especially cherished in this island breed. We also genotyped a subset of 24 samples with the Illumina Neogen Equine Community genome-wide array (65,000 SNPs). This data was further combined with the publicly available PRPF genomes from other studies. Our analysis show an undeniable genetic connection between the two varieties in Puerto Rico, consistent with the hypothesis that PRNPB horses represent the descendants of the original genetic pool, a mix of horses imported from the Iberian Peninsula and elsewhere in Europe. Some of the original founders of PRNRB population must have carried the "gait-keeper" DMRT3 allele upon arrival to the island. From this admixture, the desired traits were selected by the local people over the span of centuries. We propose that the frequency of the mutant "gait-keeper" allele originally increased in the local horses due to the selection for the smooth ride and other characters, long before the PRPF breed was established. To support this hypothesis, we demonstrate that PRNPB horses, and not the purebred PRPF, carry a signature of selection in the genomic region containing the DMRT3 locus to this day. The lack of the detectable signature of selection associated with the DMRT3 in the PRPF would be expected if this native breed was originally derived from the genetic pool of PRNPB horses established earlier and most of the founders already had the mutant allele. Consequently, selection specific to PRPF later focused on allels in other genes (including CHRM5, CYP2E1, MYH7, SRSF1, PAM, PRN and others) that have not been previously associated with the prized paso gait phenotype in Puerto Rico or anywhere else.

Student Attitudes Contribute to the Effectiveness of a Genomics CURE.

The Genomics Education Partnership (GEP) engages students in a course-based undergraduate research experience (CURE). To better understand the student attributes that support success in this CURE, we asked students about their attitudes using previously published scales that measure epistemic beliefs about work and science, interest in science, and grit. We found, in general, that the attitudes students bring with them into the classroom contribute to two outcome measures, namely, learning as assessed by a pre- and postquiz and perceived self-reported benefits. While the GEP CURE produces positive outcomes overall, the students with more positive attitudes toward science, particularly with respect to epistemic beliefs, showed greater gains. The findings indicate the importance of a student's epistemic beliefs to achieving positive learning outcomes.

Preoperative detection and evaluation of the need for psychological intervention in cancer and non-cancer patients referred to thoracic surgery.

OBJECTIVES: (a) to evaluate and compare the psychological treatment needs of patients with cancer and non-cancer, who are going to undergo scheduled thoracic surgery, and (b) evaluate and compare the diagnostic accuracy of the screening tests of psychological treatment needs for cancer and non-cancer patients. METHOD: The need for psychological treatment was evaluated in a total of 169 patients prior to thoracic surgery, through a clinical interview. The screening tests used were: the physician's judgment (yes/no), the Hospital Anxiety and Depression Scale (HADS) and, the single-item interview to assess depression "Do you feel depressed?" (DEPQ). RESULTS: The number of patients who needed psychological treatment in the total sample was 47 (27.81%), in non-cancer-patients: 22 (30.99%) and in cancer patients: 25 (25.51%). The participants with treatment needs were more often young women with primary education levels, with more fears and concerns regarding their disease. With respect to the screening tests, the HADS-T (cut-off point ≥13) obtained a sensitivity (SE) of 0.75 and Specificity (SP) of 0.81 in the total sample. In patients with cancer, the HADS total score (cut-off point ≥10) obtained an SE=0.84 and SP=0.80, and, in non-cancer patients, the HADS total score (cut-off point ≥13) showed an SE=0.59 and SP=0.84. The DEPQ and the physician's judgment did not achieve adequate levels of precision. CONCLUSIONS: A high percentage of patients have psychological treatment needs before performing thoracic surgery, which are similar for cancer and non-cancer patients. Preoperative detection of patients who need psychological intervention is feasible with a simple screening test: HADS, which achieves greater precision in cancer patients.

Primary Ciliary Dyskinesia: Ancestral Haplotypes Analysis of the RSPH4A Founder Mutation in Puerto Rico.

Genetic mutations in >50 genes, including RSPH4A, can lead to primary ciliary dyskinesia (PCD). RSPH4A mutations affect radial spokes, which alter the configuration of the ciliary ultrastructure and lead to chronic oto-sinopulmonary disease. The RSPH4A [c.921+3_6delAAGT] founder mutation was described as one cause of PCD without laterality defects in Puerto Rico. The average Puerto Rican genetic composition includes 64% European, 21% African ancestral, and 15% Native-American or Taino, a native tribe in the Caribbean at the start of the European colonization, genes. Due to the relatively elevated Taino ancestry on the island, it might have contributed to the endemicity of the RSPH4A [c.921+3_6delAAGT] splice site mutation. However, the ancestry of this mutation is still not confirmed. This article describes the two pediatric PCD cases with the Puerto Rican foundermutationand reports an ancestral haplotype analysis of the RSPH4A [c.921+3_6delAAGT] splice site mutation. A median-joining haplotype network was constructed with the genome sequence data from 104 Puerto Rican subjects in the 1000 Genomes Project (1000GP). This study found that the RSPH4A [c.921+3_6delAAGT] splice site mutation was carried to Puerto Rico from Europe by conquistadors or shortly after the conquest and that it gained frequency on the island through genetic drift fueled by a subsequent population expansion.

Molecular Phylogeny and Evolution of Amazon Parrots in the Greater Antilles.

Amazon parrots (Amazona spp.) colonized the islands of the Greater Antilles from the Central American mainland, but there has not been a consensus as to how and when this happened. Today, most of the five remaining island species are listed as endangered, threatened, or vulnerable as a consequence of human activity. We sequenced and annotated full mitochondrial genomes of all the extant Amazon parrot species from the Greater Antillean (A. leucocephala (Cuba), A. agilis, A. collaria (both from Jamaica), A. ventralis (Hispaniola), and A. vittata (Puerto Rico)), A. albifrons from mainland Central America, and A. rhodocorytha from the Atlantic Forest in Brazil. The assembled and annotated mitogenome maps provide information on sequence organization, variation, population diversity, and evolutionary history for the Caribbean species including the critically endangered A. vittata. Despite the larger number of available samples from the Puerto Rican Parrot Recovery Program, the sequence diversity of the A. vittata population in Puerto Rico was the lowest among all parrot species analyzed. Our data support the stepping-stone dispersal and speciation hypothesis that has started approximately 3.47 MYA when the ancestral population arrived from mainland Central America and led to diversification across the Greater Antilles, ultimately reaching the island of Puerto Rico 0.67 MYA. The results are presented and discussed in light of the geological history of the Caribbean and in the context of recent parrot evolution, island biogeography, and conservation. This analysis contributes to understating evolutionary history and empowers subsequent assessments of sequence variation and helps design future conservation efforts in the Caribbean.

Rapid response of a grassland ecosystem to an experimental manipulation of a keystone rodent and domestic livestock.

Megaherbivores and small burrowing mammals commonly coexist and play important functional roles in grassland ecosystems worldwide. The interactive effects of these two functional groups of herbivores in shaping the structure and function of grassland ecosystems are poorly understood. In North America's central grasslands, domestic cattle (Bos taurus) have supplanted bison (Bison bison), and now coexist with prairie dogs (Cynomys spp.), a keystone burrowing rodent. Understanding the ecological relationships between cattle and prairie dogs and their independent and interactive effects is essential to understanding the ecology and important conservation issues affecting North American grassland ecosystems. To address these needs, we established a long-term manipulative experiment that separates the independent and interactive effects of prairie dogs and cattle using a 2 x 2 factorial design. Our study is located in the Janos-Casas Grandes region of northwestern Chihuahua, Mexico, which supports one of the largest remaining complexes of black-tailed prairie dogs (C. ludovicianus). Two years of posttreatment data show nearly twofold increases in prairie dog abundance on plots grazed by cattle compared to plots without cattle. This positive effect of cattle on prairie dogs resulted in synergistic impacts when they occurred together. Vegetation height was significantly lower on the plots where both species co-occurred compared to where either or both species was absent. The treatments also significantly affected abundance and composition of other grassland animal species, including grasshoppers and banner-tailed kangaroo rats (Dipodomys spectabilis). Our results demonstrate that two different functional groups of herbivorous mammals, burrowing mammals and domestic cattle, have distinctive and synergistic impacts in shaping the structure and function of grassland ecosystems.