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1.
J Nutr Health Aging ; 25(10): 1229-1234, 2021.
Article in English | MEDLINE | ID: mdl-34866150

ABSTRACT

OBJECTIVES: The Scored Patient-Generated Subjective Global Assessment (PG-SGA) and Edmonton Frail Scale (EFS) are widely used in acute care settings to assess nutritional and frailty status, respectively. We aimed to determine whether the scored PG-SGA can identify pre-frailty and frailty status, to simultaneously evaluate malnutrition and frailty in clinical practice. DESIGN: Cross-sectional study. SETTINGS AND PARTICIPANTS: A convenience sample of 329 consecutive patients admitted to an acute medical unit in South Australia. MEASUREMENTS: Nutritional and frailty status were ascertained with scored PG-SGA and EFS, respectively. Optimal cut-off scores to identify pre-frailty and frailty were determined by calculating the Scored PG-SGA's sensitivity, specificity, positive and negative predictive values, Youden Index (YI), Liu index, Receiver Operator Curves (ROC) and Area Under Curve (AUC). Nutritional status and patient characteristics were analysed according to frailty categories. RESULTS: The optimal cut-off PG-SGA score as determined by the highest YI, to identify both pre-frailty and frailty was >3, with a sensitivity of 0.711 and specificity of 0.746. The AUC was 0.782 (95% CI 0.731-0.833). In this cohort, 64% of the patients were well-nourished, 26% were moderately malnourished and 10% were severely malnourished. Forty-three percent, 24% and 33% of the patients were classified as robust, pre-frail and frail, respectively. Bivariate analysis showed that those robust were significantly younger than those who were pre-frail (-2.8, 95% CI -5.5 to -0.1, p=0.036) or frail (-3.4, 95% CI -5.9 to -1.0, p=0.002). Robust patients had significantly lower Scored PG-SGA than those who were pre-frail (-2.5, 95%CI -3.8 to -1.1, p<0.001) or frail (-4.9, 95% CI -6.1 to -3.7, p<0.001). CONCLUSION: The Scored PG-SGA is moderately sensitive in identifying pre-frailty/frailty in older hospitalized adults and can be useful in identifying both conditions concurrently.


Subject(s)
Frailty , Malnutrition , Aged , Cross-Sectional Studies , Frail Elderly , Frailty/diagnosis , Geriatric Assessment , Humans , Malnutrition/diagnosis , Nutrition Assessment , Nutritional Status
3.
Nature ; 592(7853): 209-213, 2021 04.
Article in English | MEDLINE | ID: mdl-33828318

ABSTRACT

The trapped-ion quantum charge-coupled device (QCCD) proposal1,2 lays out a blueprint for a universal quantum computer that uses mobile ions as qubits. Analogous to a charge-coupled device (CCD) camera, which stores and processes imaging information as movable electrical charges in coupled pixels, a QCCD computer stores quantum information in the internal state of electrically charged ions that are transported between different processing zones using dynamic electric fields. The promise of the QCCD architecture is to maintain the low error rates demonstrated in small trapped-ion experiments3-5 by limiting the quantum interactions to multiple small ion crystals, then physically splitting and rearranging the constituent ions of these crystals into new crystals, where further interactions occur. This approach leverages transport timescales that are fast relative to the coherence times of the qubits, the insensitivity of the qubit states of the ion to the electric fields used for transport, and the low crosstalk afforded by spatially separated crystals. However, engineering a machine capable of executing these operations across multiple interaction zones with low error introduces many difficulties, which have slowed progress in scaling this architecture to larger qubit numbers. Here we use a cryogenic surface trap to integrate all necessary elements of the QCCD architecture-a scalable trap design, parallel interaction zones and fast ion transport-into a programmable trapped-ion quantum computer that has a system performance consistent with the low error rates achieved in the individual ion crystals. We apply this approach to realize a teleported CNOT gate using mid-circuit measurement6, negligible crosstalk error and a quantum volume7 of 26 = 64. These results demonstrate that the QCCD architecture provides a viable path towards high-performance quantum computers.

4.
Phys Rev E ; 103(1-1): 012106, 2021 Jan.
Article in English | MEDLINE | ID: mdl-33601575

ABSTRACT

There is a deep connection between the ground states of transverse-field spin systems and the late-time distributions of evolving viral populations-within simple models, both are obtained from the principal eigenvector of the same matrix. However, that vector is the wave-function amplitude in the quantum spin model, whereas it is the probability itself in the population model. We show that this seemingly minor difference has significant consequences: Phase transitions that are discontinuous in the spin system become continuous when viewed through the population perspective, and transitions that are continuous become governed by new critical exponents. We introduce a more general class of models that encompasses both cases and that can be solved exactly in a mean-field limit. Numerical results are also presented for a number of one-dimensional chains with power-law interactions. We see that well-worn spin models of quantum statistical mechanics can contain unexpected new physics and insights when treated as population-dynamical models and beyond, motivating further studies.

5.
Article in English | MEDLINE | ID: mdl-36777482

ABSTRACT

Objective: Despite the implementation of quality assurance procedures, current clinical trial management processes are time-consuming, costly, and often susceptible to error. This can result in limited trust, transparency, and process inefficiencies, without true patient empowerment. The objective of this study was to determine whether blockchain technology could enforce trust, transparency, and patient empowerment in the clinical trial data management process, while reducing trial cost. Design: In this proof of concept pilot, we deployed a Hyperledger Fabric-based blockchain system in an active clinical trial setting to assess the impact of blockchain technology on mean monitoring visit time and cost, non-compliances, and user experience. Using a parallel study design, we compared differences between blockchain technology and standard methodology. Results: A total of 12 trial participants, seven study coordinators and three clinical research associates across five sites participated in the pilot. Blockchain technology significantly reduces total mean monitoring visit time and cost versus standard trial management (475 to 7 min; P = 0.001; €722 to €10; P = 0.001 per participant/visit, respectively), while enhancing patient trust, transparency, and empowerment in 91, 82 and 63% of the patients, respectively. No difference in non-compliances as a marker of trial quality was detected. Conclusion: Blockchain technology holds promise to improve patient-centricity and to reduce trial cost compared to conventional clinical trial management. The ability of this technology to improve trial quality warrants further investigation.

6.
J Hum Nutr Diet ; 33(5): 601-613, 2020 10.
Article in English | MEDLINE | ID: mdl-32468642

ABSTRACT

BACKGROUND: Dietitians require communication competencies for effective dietetic practice. There is little evidence on how student dietitians experience and value communication skills teaching. The present study aimed to measure attitudes of student dietitians with respect to communication skills teaching and how experiential learning using simulated patients impacts confidence in their communication skills. METHODS: Communication skills teaching adopting an experiential skills-based approach including practice with simulated patients, feedback and reflection were developed. A 67-item questionnaire with three sections: (i) views regarding the importance of communication skills to dietetic practice; (ii) attitudes to learning communication skills using a modified Communication Skills Attitude Scale; and (iii) confidence in their own communication skills, was completed by students before and after the course, with responses recorded on a five-point Likert scale and analysed pairwise using McNemar's test. RESULTS: Over three academic years, 112 students (91.8% response rate) completed the evaluation. After training, students rated communication skills as important for patient satisfaction (100%) and relationships with patients (99.1%). Student dietitians had positive attitudes to learning communication skills with positive attitudes scale score before teaching of mean (SD) 53.6 (5.3) and after of 54.0 (5.8) (P = 0.162). Following experiential teaching, the proportion of students feeling 'very or extremely confident' in understanding a patient's perspective increased from 27.7% to 41.1% (P = 0.008) and for reaching agreement with a patient from 4.5% to 17.9% (P = 0.001). CONCLUSIONS: Student dietitians consider communication skills important for dietetic practice. They receive teaching positively and an experiential skills-based approach can improve self-rated confidence.


Subject(s)
Dietetics/education , Patient Simulation , Problem-Based Learning/methods , Students, Health Occupations/psychology , Adult , Clinical Competence , Communication , Female , Humans , Male , Optimism , Surveys and Questionnaires , Young Adult
7.
Phys Rev Lett ; 124(17): 170501, 2020 May 01.
Article in English | MEDLINE | ID: mdl-32412273

ABSTRACT

Population leakage outside the qubit subspace presents a particularly harmful source of error that cannot be handled by standard error correction methods. Using a trapped ^{171}Yb^{+} ion, we demonstrate an optical pumping scheme to suppress leakage errors in atomic hyperfine qubits. The selection rules and narrow linewidth of a quadrupole transition are used to selectively pump population out of leakage states and back into the qubit subspace. Each pumping cycle reduces the leakage population by a factor of ∼3, allowing for an exponential suppression in the number of cycles. We use interleaved randomized benchmarking on the qubit subspace to show that this pumping procedure has negligible side effects on the qubit subspace, bounding the induced qubit memory error by ≤2.0(8)×10^{-5} per cycle, and qubit population decay to ≤1.4(3)×10^{-7} per cycle. These results clear a major obstacle for implementations of quantum error correction and error mitigation protocols.

8.
Equine Vet J ; 52(2): 213-218, 2020 Mar.
Article in English | MEDLINE | ID: mdl-31356679

ABSTRACT

BACKGROUND: Slab fractures of the third carpal bone (C3) are a common injury of Thoroughbred racehorses. Results of arthroscopically guided repair have not been reported since the initial description of the technique in 1986. Additionally, fracture details and racing outcomes in a population of Thoroughbreds racing under UK jurisdiction have not previously been described. OBJECTIVES: To report the frequency distribution of C3 slab fractures and to determine the impact on racing performance following arthroscopically guided repair in a population of Thoroughbred racehorses. STUDY DESIGN: Retrospective case series. METHODS: Case records of Thoroughbred racehorses undergoing arthroscopically guided repair of C3 slab fractures at Newmarket Equine Hospital between 2006 and 2015 were retrieved. Radiographs and arthroscopic studies were reviewed. The effect of demography and fracture morphology on racing outcome was evaluated. RESULTS: C3 slab fractures occurred most commonly through the radial facet in a frontal plane (45/71 63.4%). Comminution was identified during arthroscopy in 42/71 (59.2%) fractures and occurred most frequently at the palmar margin of the fracture. Forty-one out of 65 horses (63.1%) raced at least once post-operatively. Females were less likely to return to racing compared to males (P<0.001). Horses that had raced before injury were more likely (OR 4.4, 95% CI 1.4-13.5, P = 0.01) to race after injury compared to horses that were unraced at the time of injury. After injury horses had a small but significant reduction in racing performance. MAIN LIMITATIONS: The series is a preselected population of Thoroughbred racehorses which referring veterinary surgeons considered potential candidates for surgical repair. CONCLUSION: Fracture configurations can be identified radiographically but is not a reliable predictor of comminution or other intra-articular lesions. Arthroscopy not only directs repair but also identifies and facilitates management of concurrent lesions. The results reported should assist in formulating appropriate prognoses for Thoroughbred horses racing in the UK.


Subject(s)
Carpal Bones , Fractures, Bone/veterinary , Horse Diseases , Sports , Animals , Female , Horses , Male , Retrospective Studies , United Kingdom
9.
J Hum Nutr Diet ; 33(2): 274-283, 2020 04.
Article in English | MEDLINE | ID: mdl-31858685

ABSTRACT

BACKGROUND: Malnutrition is one the greatest global health challenges of our generation, leading to the increased utilisation of healthcare resources, as well as morbidity and mortality. Research has primarily been driven by industry, academia and clinical working groups and has had little involvement from patients and carers. The project described in the present study aimed to establish a priority setting partnership allowing patients, carers and healthcare professionals an opportunity to influence the research agenda. METHODS: A national survey was conducted to gather malnutrition uncertainties and identify key issues (i.e. areas within scope where an evidence-base is lacking) from those with experience of malnutrition. Uncertainties were analysed according to themes. Similar questions were grouped and summary questions were developed. A second survey was conducted and respondents were asked to choose their 10 most important summary questions. A workshop was conducted to finalise the top 10 research priorities from the most frequently indicated uncertainties on the interim survey. RESULTS: Overall, 1128 uncertainty questions were submitted from 268 people. The interim survey had 71 responses and a list of the top 26 questions was generated for the workshop. There were 26 questions discussed, ranked and agreed by healthcare professionals, carers and patients at the workshop. The top 10 research priorities were then chosen. These included questions on oral nutritional supplements, vulnerable groups, screening, community care, use of body mass index and technology. CONCLUSIONS: The top 10 research priorities in malnutrition and nutritional screening have been identified from a robust process involving patients, carers and healthcare professionals.


Subject(s)
Malnutrition , Nutrition Assessment , Research , Stakeholder Participation , Adult , Aged , Aged, 80 and over , Caregivers , Female , Health Personnel , Humans , Male , Middle Aged , Young Adult
10.
Oxf Med Case Reports ; 2019(5): omz032, 2019 May.
Article in English | MEDLINE | ID: mdl-31198568

ABSTRACT

We report a case of a patient with fatal community-acquired pyogenic liver abscess (CA-PLA) caused by multi drug-resistant, hypervirulent, Klebsiella pneumoniae (mdrhvKP). HvKP causing PLA has been described in East and South East Asia and it is recognized as an emerging infection worldwide. The syndrome is characterized by cryptogenic liver abscess formation without a previous history of hepatobiliary or colonic disease and metastatic spread of infection via the bloodstream to distant sites, including lungs, central nervous system and other organ systems. Diabetes mellitus is a recognized risk factor. Most previously reported cases have involved antibiotic susceptible strains of hvKP although reports of bloodstream infections caused by resistant strains, including carbapenemase producers, are increasing. Our report highlights the need for awareness of this devastating infection in patients presenting with sepsis and liver abscess without underlying hepatobiliary or colonic disease.

11.
Phys Rev Lett ; 122(1): 016802, 2019 Jan 11.
Article in English | MEDLINE | ID: mdl-31012670

ABSTRACT

The surface of diamond is reported to undergo nonablative photochemical etching when exposed to ultraviolet (UV) radiation which allows controlled single and partial layer removal of lattice layers. Oxygen termination of surface dangling bonds is known to be crucial for the etching process; however, the exact mechanism of carbon ejection remains unclear. We investigate the interaction of UV laser pulses with oxygen-terminated diamond surfaces using atomic-scale surface characterization combined with first-principles time-dependent density functional theory calculations. We present evidence for laser-induced desorption (LID) from carbonyl functional groups at the diamond {001} surface. The doubly bonded carbonyl group is photoexcited into a triply bonded CO-like state, including scission of the underlying C─C bonds. The carbon removal process in LID is atom by atom; therefore, this mechanism provides a novel "top-down" approach for creating nanostructures on the surface of diamond and other carbon-containing semiconductors.

12.
J Hum Nutr Diet ; 32(1): 108-118, 2019 02.
Article in English | MEDLINE | ID: mdl-30264530

ABSTRACT

BACKGROUND: Guidance on choosing oral nutritional support strategies varies and the evidence for different approaches is discordant. The present study aimed to examine opinion and practice in the use of oral nutritional support amongst UK dietitians and to assess the factors that influence these clinical decisions. METHODS: The study comprised a cross-sectional, anonymous, national survey of UK dietitians. RESULTS: There were 207 completed responses (3% response rate). More dietitians reported using combined approaches (COMB) [n = 129 (62%)] over food-based (FB) strategies [n = 70 (34%)] or oral nutritional supplements (ONS) alone [n = 8 (4%)] (N = 207, P < 0.001). Intervention choice was associated with clinical setting and clinical speciality; community dietitians reported more frequent use of FB or ONS alone [n = 48 (59%)] versus COMB [n = 34 (41%)] compared to acute dietitians [COMB: n = 83 (78%) COMB versus FB or ONS alone: n = 24 (22%)] (N = 207, P < 0.0001). Specialist nutrition support dietitians reported more frequent use of FB or ONS alone [n = 22 (54%)] versus COMB [n = 19 (46%)] compared to nonspecialists [FB or ONS alone: n = 17 (45%) versus COMB: n = 21 (55%)] and other specialist dietitians [FB or ONS: n = 39 (30%) alone versus COMB: n = 89 (70%)] (P = 0.017). The greatest influences on choice were ease of implementation [n = 192 (93%)], departmental protocols [n = 184 (89%)], professional management pathways [n = 179 (87%)] and published research [n = 165 (80%)]. Patient circumstances [n = 117 (57%) and n = 99 (48%)] and ease of implementation [n = 35 (17%) and n = 48 (24%)] were reported as most influential in the first and second case scenarios, respectively. CONCLUSIONS: There is a need for further research on approaches to the dietetic management of adult malnutrition.


Subject(s)
Malnutrition/therapy , Nutritional Support/statistics & numerical data , Nutritionists/statistics & numerical data , Practice Patterns, Physicians'/statistics & numerical data , Adult , Cross-Sectional Studies , Female , Humans , Male , Malnutrition/prevention & control , Nutritional Support/methods , Surveys and Questionnaires , United Kingdom
13.
Sci Rep ; 8(1): 4920, 2018 03 20.
Article in English | MEDLINE | ID: mdl-29559694

ABSTRACT

Mesophotic coral ecosystems, which occur at depths of ~40 to 150 m, have received recent scientific attention as potential refugia for organisms inhabiting deteriorating shallow reefs. These ecosystems merit research in their own right, as they harbor both depth-generalist species and a distinctive reef-fish fauna. Reef ecosystems just below the mesophotic are globally underexplored, and the scant recent literature that mentions them often suggests that mesophotic ecosystems transition directly into those of the deep sea. Through submersible-based surveys in the Caribbean Sea, we amassed the most extensive database to date on reef-fish diversity between ~40 and 309 m at any single tropical location. Our data reveal a unique reef-fish assemblage living between ~130 and 309 m that, while taxonomically distinct from shallower faunas, shares strong evolutionary affinities with them. Lacking an existing name for this reef-faunal zone immediately below the mesophotic but above the deep aphotic, we propose "rariphotic." Together with the "altiphotic," proposed here for the shallowest reef-faunal zone, and the mesophotic, the rariphotic is part of a depth continuum of discrete faunal zones of tropical reef fishes, and perhaps of reef ecosystems in general, all of which warrant further study in light of global declines of shallow reefs.


Subject(s)
Ecosystem , Fishes/physiology , Refugium , Animals , Biodiversity , Biological Evolution , Caribbean Region , Coral Reefs , Databases, Factual , Oceans and Seas
14.
Phys Rev Lett ; 119(15): 150401, 2017 Oct 13.
Article in English | MEDLINE | ID: mdl-29077453

ABSTRACT

Quantum tomography is a critically important tool to evaluate quantum hardware, making it essential to develop optimized measurement strategies that are both accurate and efficient. We compare a variety of strategies using nearly pure test states. Those that are informationally complete for all states are found to be accurate and reliable even in the presence of errors in the measurements themselves, while those designed to be complete only for pure states are far more efficient but highly sensitive to such errors. Our results highlight the unavoidable trade-offs inherent in quantum tomography.

15.
Phys Rev Lett ; 118(12): 127201, 2017 Mar 24.
Article in English | MEDLINE | ID: mdl-28388188

ABSTRACT

The two primary categories for eigenstate phases of matter at a finite temperature are many-body localization (MBL) and the eigenstate thermalization hypothesis (ETH). We show that, in the paradigmatic quantum p-spin models of the spin-glass theory, eigenstates violate the ETH yet are not MBL either. A mobility edge, which we locate using the forward-scattering approximation and replica techniques, separates the nonergodic phase at a small transverse field from an ergodic phase at a large transverse field. The nonergodic phase is also bounded from above in temperature, by a transition in configuration-space statistics reminiscent of the clustering transition in the spin-glass theory. We show that the nonergodic eigenstates are organized in clusters which exhibit distinct magnetization patterns, as characterized by an eigenstate variant of the Edwards-Anderson order parameter.

16.
J Hum Nutr Diet ; 29(6): 733-745, 2016 12.
Article in English | MEDLINE | ID: mdl-27231148

ABSTRACT

BACKGROUND: Nutritional intervention is increasingly recognised as having an important role in functional rehabilitation for older people. Nonetheless, a greater understanding of the functional benefit of nutritional interventions is needed. METHODS: A systematic review and meta-analysis examined randomised controlled trials (RCTs) published between 2007 and 2014 with the aim of determining whether nutritional intervention combined with rehabilitation benefited older people with reduced functional ability. Six electronic databases were searched. RCTs including people aged 65 years and older with reduced physical, social and/or cognitive function were included. PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses) guidelines were followed, and gradepro computer software (http://gradepro.org) was used for the quality assessment of critical and important outcomes. Included studies considered to be clinical homogenous were combined in a meta-analysis. RESULTS: Of the 788 studies screened, five were identified for inclusion. Nutritional intervention given with functional rehabilitation improved energy and protein intake, although it failed to provide any improvement in final body weight, hand-grip strength or muscle strength. There was no difference between groups in the critical outcomes; balance, cognition, activities of daily living and mortality at long-term follow-up. Nutritional intervention given with functional rehabilitation was associated with an increased likelihood of both mortality (odds ratio = 1.77; 95% confidence interval = 1.13-2.76) and hospitalisation (odds ratio = 2.29; 95% confidence interval = 1.10-4.79) during the intervention. Meta-analysis of the baseline data showed that, overall, the intervention cohort had a lower body weight and cognition. CONCLUSIONS: This meta-analysis highlights concerns regarding the quality of the randomisation of participants at baseline. Future high-quality research is essential to establish whether older people with loss of functional abilities can benefit from nutritional intervention.


Subject(s)
Nutrition Therapy/methods , Rehabilitation/methods , Aged , Aged, 80 and over , Body Weight , Cognition , Disability Evaluation , Female , Geriatric Assessment , Humans , Male , Muscle Strength , Randomized Controlled Trials as Topic , Treatment Outcome
18.
J Hum Nutr Diet ; 28(6): 517-45, 2015 Dec.
Article in English | MEDLINE | ID: mdl-26300378

ABSTRACT

BACKGROUND: Supportive interventions for enhancing dietary intake in malnourished or nutritionally at risk adults are frequently recommended. A recent systematic review of randomised controlled trials identified limited and poor quality evidence to support their use. Observational studies have been shown to compliment and extend their evidence. This review aimed to synthesise evidence from nonrandomised studies aiming to improve nutritional intake in nutritionally vulnerable individuals and to describe their effects on cost, nutritional, clinical and patient centred outcomes. METHODS: Systematic searches of 10 electronic databases were undertaken to May 2013. Reference lists of identified studies and systematic reviews were scrutinised and hand searching of relevant meeting abstracts was undertaken. Titles and abstracts were reviewed, data extracted by two research-ers working independently and summarised using a structured narrative format. RESULTS: Forty-one studies (n = 3751 participants) were identified for inclusion. Interventions identified included changes to the organisation of nutritional care (n = 15), changes to the feeding environment (n = 11), modification to meals (n = 6), supplementation of meals (n = 7) and recipients of home delivered meals (n = 2). Eighteen of 23 studies reported improvements in nutritional intake; however, effects on nutritional status, clinical outcomes and costs were reported in few studies and findings were inconsistent. Eighteen studies reported patient experience, highlighting benefits to nutritional status most commonly as judged by the carers but the methods used lacked rigour. CONCLUSIONS: This systematic review describes a range of interventions that may be implemented in clinical practice. A limited range of outcomes are reported and it is difficult to draw any meaningful conclusions on the effect of the different methods.


Subject(s)
Dietary Supplements , Food Services , Malnutrition/diet therapy , Malnutrition/prevention & control , Nutritional Status , Outcome Assessment, Health Care , Adult , Humans , Malnutrition/economics , Risk
19.
J Fish Biol ; 87(2): 256-73, 2015 Aug.
Article in English | MEDLINE | ID: mdl-26084450

ABSTRACT

Stable isotope (δ(13)C and δ(15)N) and gut content analyses were used to investigate size-related feeding habits of four reef fishes (the beaugregory Stegastes leucostictus, the french grunt Haemulon flavolineatum, the schoolmaster snapper Lutjanus apodus and the yellowtail snapper Ocyurus chrysurus) inhabiting an offshore (non-estuarine) mangrove islet off Belize, Central America. Comparisons of isotopic niche space and Schoener diet similarity index suggested a low to moderate degree of niche overlap between fish size groups. The δ(13)C gradient between mangrove and seagrass prey as well as results of Bayesian mixing models revealed that sampled fishes relied mostly on seagrass prey items. Only small and large juveniles of the carnivorous species L. apodus derived a part of their diet from mangroves by targeting mangrove-associated Grapsidae crabs and fish prey, respectively. Isotopic niche shifts were particularly obvious for carnivorous fishes that ingested larger prey items (Xanthidae crabs and fishes) during their ontogeny. The utilization of mangrove food resources is less than expected and depends on the ecology and life history of the fish species considered. This research highlights that mangrove-derived carbon contributed relatively little to the diets of four fish taxa from an offshore mangrove islet.


Subject(s)
Diet/veterinary , Ecosystem , Perciformes/physiology , Animals , Avicennia , Bayes Theorem , Belize , Carbon Isotopes/analysis , Food Chain , Gastrointestinal Contents , Islands , Models, Theoretical , Nitrogen Isotopes/analysis , Rhizophoraceae
20.
Blood Cells Mol Dis ; 54(3): 224-30, 2015 Mar.
Article in English | MEDLINE | ID: mdl-25703683

ABSTRACT

BACKGROUND: Fetal hemoglobin (HbF) levels in sickle cell anemia patients vary. We genotyped polymorphisms in the erythroid-specific enhancer of BCL11A to see if they might account for the very high HbF associated with the Arab-Indian (AI) haplotype and Benin haplotype of sickle cell anemia. METHODS AND RESULTS: Six BCL112A enhancer SNPs and their haplotypes were studied in Saudi Arabs from the Eastern Province and Indian patients with AI haplotype (HbF ~20%), African Americans (HbF ~7%), and Saudi Arabs from the Southwestern Province (HbF ~12%). Four SNPs (rs1427407, rs6706648, rs6738440, and rs7606173) and their haplotypes were consistently associated with HbF levels. The distributions of haplotypes differ in the 3 cohorts but not their genetic effects: the haplotype TCAG was associated with the lowest HbF level and the haplotype GTAC was associated with the highest HbF level and differences in HbF levels between carriers of these haplotypes in all cohorts were approximately 6%. CONCLUSIONS: Common HbF BCL11A enhancer haplotypes in patients with African origin and AI sickle cell anemia have similar effects on HbF but they do not explain their differences in HbF.


Subject(s)
Anemia, Sickle Cell/genetics , Carrier Proteins/genetics , Fetal Hemoglobin/genetics , Nuclear Proteins/genetics , Polymorphism, Single Nucleotide , Adolescent , Adult , Black or African American/genetics , Arabs/genetics , Asian People/genetics , Child , Female , Genotype , Haplotypes , Humans , Male , Middle Aged , Repressor Proteins , Young Adult
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