Point University is a private, Christian, liberal arts university in West Point, Georgia, 60 miles southwest of Atlanta.The liberal arts institution was founded in 1937 as Atlanta Christian College, located in the Atlanta suburb of East Point. In 2011, the college announced a name change to Point University. It relocated its main campus to West Point, Georgia, in June 2012. Wikipedia.
Landoure G.,University College London |
Landoure G.,U.S. National Institutes of Health |
Landoure G.,Point University |
Zdebik A.A.,University College London |
And 18 more authors.
Nature Genetics | Year: 2010
Charcot-Marie-Tooth disease type 2C (CMT2C) is an autosomal dominant neuropathy characterized by limb, diaphragm and laryngeal muscle weakness. Two unrelated families with CMT2C showed significant linkage to chromosome 12q24.11. We sequenced all genes in this region and identified two heterozygous missense mutations in the TRPV4 gene, C805T and G806A, resulting in the amino acid substitutions R269C and R269H. TRPV4 is a well-known member of the TRP superfamily of cation channels. In TRPV4-transfected cells, the CMT2C mutations caused marked cellular toxicity and increased constitutive and activated channel currents. Mutations in TRPV4 were previously associated with skeletal dysplasias. Our findings indicate that TRPV4 mutations can also cause a degenerative disorder of the peripheral nerves. The CMT2C-associated mutations lie in a distinct region of the TRPV4 ankyrin repeats, suggesting that this phenotypic variability may be due to differential effects on regulatory protein-protein interactions. © 2010 Nature America, Inc. All rights reserved.
Fa D.A.,Point University |
Finlayson J.C.,Point University |
Finlayson G.,Point University |
Giles-Pacheco F.,The Gibraltar Caves Project |
And 2 more authors.
Quaternary International | Year: 2016
There is increasing evidence that humans have exploited intertidal and shallow-water species for much longer than has been previously considered, and certainly not restricted to Anatomically Modern Humans (AMH). One of the principal reasons for the lack of evidence up till recently has been a lack of consideration for the temporal and spatial backdrop to such activities throughout human evolution, in particular related to changes in sea-level during the Pleistocene (Bailey et al., 2008). This study reports on the marine molluscs excavated from Gorham's Cave between 1998 and 2005, focussing in particular between levels III and IV, corresponding to the Upper (AMH) and Middle Palaeolithic (Neanderthals), respectively. Given that Gorham's Cave was never more than approximately 2 km away from the coastline, it still preserves evidence of exploitation of marine molluscs for food by Neanderthals and in this article the data obtained are compared across the Middle-Upper Palaeolithic transition. The results obtained suggest a high degree of consistency in the mode of marine mollusc exploitation between levels, and comparisons with extant communities supports the contention that marine molluscs were exploited in direct proportion to their relative abundance and accessibility. Patterns in shell size distributions for some of the main species exploited are discussed, as are possible anthropic valve selection and the marine climatic signals that can be extracted from such data. The main difference that emerges between Upper and Middle Palaeolithic levels was a lack of evidence of collection for decoration in Middle Palaeolithic levels, but even here the relatively small size of the Level IV sample precluded totally excluding this possibility based only on absence of evidence. © 2016 Elsevier Ltd and INQUA.
Mcnally S.P.,Bermuda Institute of Ocean Sciences |
Parsons R.J.,Bermuda Institute of Ocean Sciences |
Santoro A.E.,Point University |
Apprill A.,Woods Hole Oceanographic Institution
Limnology and Oceanography | Year: 2016
Picoplankton foster essential recycling of nutrients in the oligotrophic waters sustaining coral reef ecosystems. Despite this fact, there is a paucity of data on how the specific interactions between corals and planktonic bacteria and archaea (picoplankton) contribute to nutrient dynamics and reef productivity. Here, we utilized mesocosm experiments to investigate how corals and coral mucus influence picoplankton and nutrients in reef waters. Over 12 days, we tracked nutrient concentrations, picoplankton abundances and taxonomic composition of picoplankton using direct cell-counts, sequencing of SSU rRNA genes and fluorescent in situ hybridization-based abundances of dominant lineages in the presence or absence of Porites astreoides corals and with mucus additions. Our results demonstrate that when corals are present, Synechococcus, SAR11 and Rhodobacteraceae cells are preferentially removed. When corals were removed, their exudates enhanced the growth of diverse picoplankton, including SAR11 and Rhodobacteraceae. A seven-fold increase in nitrate concentration, possibly caused by nitrogen remineralization (ammonification coupled to nitrification) within the coral holobiont, may have further facilitated the growth of these taxa. In contrast, the addition of mucus resulted in rapid initial growth of total picoplankton and Rhodobacteraceae, but no measurable change in overall community structure. This study presents evidence of the multifaceted influences of corals on picoplankton, in which the coral holobiont selectively removes and promotes the growth of diverse picoplankton and remineralizes nitrogen. © 2016 Association for the Sciences of Limnology and Oceanography.
De Vries J.,University of Oxford |
Bull S.J.,University of Oxford |
Doumbo O.,Point University |
Ibrahim M.,University of Khartoum |
And 4 more authors.
BMC Medical Ethics | Year: 2011
Background: Genome-wide association studies (GWAS) provide a powerful means of identifying genetic variants that play a role in common diseases. Such studies present important ethical challenges. An increasing number of GWAS is taking place in lower income countries and there is a pressing need to identify the particular ethical challenges arising in such contexts. In this paper, we draw upon the experiences of the MalariaGEN Consortium to identify specific ethical issues raised by such research in Africa, Asia and Oceania. Discussion. We explore ethical issues in three key areas: protecting the interests of research participants, regulation of international collaborative genomics research and protecting the interests of scientists in low income countries. With regard to participants, important challenges are raised about community consultation and consent. Genomics research raises ethical and governance issues about sample export and ownership, about the use of archived samples and about the complexity of reviewing such large international projects. In the context of protecting the interests of researchers in low income countries, we discuss aspects of data sharing and capacity building that need to be considered for sustainable and mutually beneficial collaborations. Summary. Many ethical issues are raised when genomics research is conducted on populations that are characterised by lower average income and literacy levels, such as the populations included in MalariaGEN. It is important that such issues are appropriately addressed in such research. Our experience suggests that the ethical issues in genomics research can best be identified, analysed and addressed where ethics is embedded in the design and implementation of such research projects. © 2011 de Vries et al; licensee BioMed Central Ltd.
Voorter C.E.M.,Maastricht University |
Groeneweg M.,Maastricht University |
Joannis M.-O.,Point University |
Meertens C.,Maastricht University |
And 2 more authors.
Tissue Antigens | Year: 2014
Genetic polymorphism of human leukocyte antigen (HLA)-DPA1 and -DPB1 loci was studied in 154 unrelated individuals from Guadeloupe, an archipelago of five islands located in the Carribean Sea. Thirty different DPB1 and eight different DPA1 alleles were observed with a heterozygosity index of 0.87 and 0.78, respectively. This high degree of heterozygosity corresponds with those found in African populations. The DPB1* 01:01:01 allele was most frequent (0.260), followed by 02:01:02 (0.143) and 04:01:01 (0.127). The DPA1 alleles 01:03 (0.380), 02:01 (0.302), 02:02 (0.175) and 03:01 (0.123) were identified in >35 individuals each, whereas 01:04, 01:05 and 04:01 were present only once. Haplotype estimations revealed the presence of 39 different haplotypes, with DPB1*01:01:01-DPA1*02:02 and DPB1*02:01:02-DPA1*01:03 as the most frequent (0.143 and 0.140, respectively). A striking difference was observed in DPB1/DPA1 associations between DPB1*04:02 and *105:01, that have identical exon 2 sequences. DPB1*04:02 was exclusively associated with DPA1*01:03, whereas DPB1*105:01 was present with DPA1*03:01, *03:02 or *04:01. This implies that the DP molecules are actually different, and this difference is relevant to consider in studies on the function of HLA-DP molecules in transplantation. Overall, HLA-DPA1 and DPB1 allele frequencies and haplotypes of the population of Guadeloupe were most similar to African populations, with characteristic alleles and haplotypes that bespeaks the admixture with other ethnicities. © 2014 John Wiley & Sons A/S.
Rinaldi C.,U.S. National Institutes of Health |
Grunseich C.,U.S. National Institutes of Health |
Sevrioukova I.F.,University of California at Irvine |
Schindler A.,U.S. National Institutes of Health |
And 12 more authors.
American Journal of Human Genetics | Year: 2012
Cowchock syndrome (CMTX4) is a slowly progressive X-linked recessive disorder with axonal neuropathy, deafness, and cognitive impairment. The disease locus was previously mapped to an 11 cM region at chromosome X: q24-q26. Exome sequencing of an affected individual from the originally described family identified a missense change c.1478A>T (p.Glu493Val) in AIFM1, the gene encoding apoptosis-inducing factor (AIF) mitochondrion-associated 1. The change is at a highly conserved residue and cosegregated with the phenotype in the family. AIF is an FAD-dependent NADH oxidase that is imported into mitochondria. With apoptotic insults, a N-terminal transmembrane linker is cleaved off, producing a soluble fragment that is released into the cytosol and then transported into the nucleus, where it triggers caspase-independent apoptosis. Another AIFM1 mutation that predicts p.Arg201del has recently been associated with severe mitochondrial encephalomyopathy in two infants by impairing oxidative phosphorylation. The c.1478A>T (p.Glu493Val) mutation found in the family reported here alters the redox properties of the AIF protein and results in increased cell death via apoptosis, without affecting the activity of the respiratory chain complexes. Our findings expand the spectrum of AIF-related disease and provide insight into the effects of AIFM1 mutations. © 2012 The American Society of Human Genetics.
Sagara I.,Point University |
Sagara I.,Aix - Marseille University |
Giorgi R.,Aix - Marseille University |
Doumbo O.K.,Point University |
And 2 more authors.
Malaria Journal | Year: 2014
Background: Recurrent events data analysis is common in biomedicine. Literature review indicates that most statistical models used for such data are often based on time to the first event or consider events within a subject as independent. Even when taking into account the non-independence of recurrent events within subjects, data analyses are mostly done with continuous risk interval models, which may not be appropriate for treatments with sustained effects (e.g., drug treatments of malaria patients). Furthermore, results can be biased in cases of a confounding factor implying different risk exposure, e.g. in malaria transmission: if subjects are located at zones showing different environmental factors implying different risk exposures. Methods. This work aimed to compare four different approaches by analysing recurrent malaria episodes from a clinical trial assessing the effectiveness of three malaria treatments [artesunate + amodiaquine (AS + AQ), artesunate + sulphadoxine-pyrimethamine (AS + SP) or artemether-lumefantrine (AL)], with continuous and discontinuous risk intervals: Andersen-Gill counting process (AG-CP), Prentice-Williams-Peterson counting process (PWP-CP), a shared gamma frailty model, and Generalized Estimating Equations model (GEE) using Poisson distribution. Simulations were also made to analyse the impact of the addition of a confounding factor on malaria recurrent episodes. Results: Using the discontinuous interval analysis, AG-CP and Shared gamma frailty models provided similar estimations of treatment effect on malaria recurrent episodes when adjusted on age category. The patients had significant decreased risk of recurrent malaria episodes when treated with AS + AQ or AS + SP arms compared to AL arm; Relative Risks were: 0.75 (95% CI (Confidence Interval): 0.62-0.89), 0.74 (95% CI: 0.62-0.88) respectively for AG-CP model and 0.76 (95% CI: 0.64-0.89), 0.74 (95% CI: 0.62-0.87) for the Shared gamma frailty model.With both discontinuous and continuous risk intervals analysis, GEE Poisson distribution models failed to detect the effect of AS + AQ arm compared to AL arm when adjusted for age category. The discontinuous risk interval analysis was found to be the more appropriate approach. Conclusion: Repeated event in infectious diseases such as malaria can be analysed with appropriate existing models that account for the correlation between multiple events within subjects with common statistical software packages, after properly setting up the data structures. © 2014 Sagara et al.; licensee BioMed Central Ltd.
Pagani L.S.,University of Montréal |
Levesque-Seck F.,University of Montréal |
Fitzpatrick C.,Point University |
Fitzpatrick C.,Concordia University at Montréal
Psychological Medicine | Year: 2016
Background: Using a large Canadian population-based sample, this study aimed to verify whether televiewing in toddlerhood is prospectively associated with self-reported social impairment in middle school. Method: Participants are from a prospective–longitudinal birth cohort of 991 girls and 1006 boys from the Quebec Longitudinal Study of Child Development. Child self-reported ratings of relational difficulties at age 13 years were linearly regressed on parent-reported televiewing at age 2 years while adjusting for potential confounders. Results: Every additional 1 h of early childhood television exposure corresponded to an 11% s.d. unit increase in self-reported peer victimization [unstandardized β = 0.03, 95% confidence interval (CI) 0.02–0.04], a 10% s.d. unit increase in self-reported social isolation (unstandardized β = 0.04, 95% CI 0.03–0.05), a 9% s.d. unit increase in self-reported proactive aggression (unstandardized β = 0.02, 95% CI 0.01–0.03) and a 6% s.d. unit increase in self-reported antisocial behavior (unstandardized β = 0.01, 95% CI 0.01–0.01) at age 13 years. These results are above and beyond pre-existing individual and family factors. Conclusions: Televiewing in toddlerhood was prospectively associated with experiencing victimization and social withdrawal from fellow students and engaging in antisocial behavior and proactive aggression toward fellow students at age 13 years. Adolescents who experience relational difficulties are at risk of long-term health problems (like depression and cardiometabolic disease) and socio-economic problems (like underachievement and unemployment). These relationships, observed more than a decade later, and independent of key potential confounders, suggest a need for better parental awareness of how young children invest their limited waking hours. Copyright © Cambridge University Press 2016
Djebali S.,Point University |
Guedda L.,Point University
Mathematical Methods in the Applied Sciences | Year: 2016
This paper is concerned with the solvability of a fully nonlinear third-order m-point boundary value problem at resonance posed on the half line. The nonlinearity which depends on the first and the second derivatives satisfies a sublinear-like growth condition. Our main existence result is based on Mawhin's coincidence degree theory. An illustrative example of application is included. © 2016 John Wiley & Sons, Ltd.
Capa-Grasa A.,Hospital Universitario La Paz |
Rojo-Manaute J.M.,Point University |
Rodriguez F.C.,University Hospital Gregorio Maranon |
Martin J.V.,University Hospital Gregorio Maranon
Orthopaedics and Traumatology: Surgery and Research | Year: 2014
Background: Authors have reported better outcomes, by reducing surgical dissection for carpal tunnel syndromes requiring surgery. Recently, a new sonographically guided technique for ultra minimally invasive (Ultra-MIS) carpal tunnel release (CTR) through 1. mm incision has been described. Hypothesis: We hypothesized that a clinical trial for comparing Ultra-MIS versus Mini-open Carpal Tunnel Release (Mini-OCTR) was feasible. Materials and methods: To test our hypothesis, we conducted a pilot study for studying Ultra-MIS versus Mini-OCTR respectively performed through a 1. mm or a 2. cm incision. We defined success if primary feasibility objectives (safety and efficacy) as well as secondary feasibility objectives (recruitment rates, compliance, completion, treatment blinding, personnel resources and sample size calculation for the clinical trial) could be matched. Score for Quick-DASH questionnaire at final follow-up was studied as the primary variable for the clinical trial. Turnover times were studied for assessing learning curve stability. Results: Forty patients were allotted. Primary and secondary feasibility objectives were matched with the following occurrences: 70.2% of eligible patients finally recruited; 4.2% of randomization refusals; 26.6 patients/month recruited; 100% patients receiving a blinded treatment; 97.5% compliance and 100% completion. A sample size of 91 patients was calculated for clinical trial validation. At final follow-up, preliminary results for Quick-Dash substantially favored Ultra-MIS over Mini-OCTR (average 14.54 versus 7.39) and complication rates were lower for Ultra-MIS (5% versus 20%). A stable learning curve was observed for both groups. Conclusions: The clinical trial is feasible. There is currently no evidence to contraindicate nor withhold the use of Ultra-MIS for CTR. Level of evidence: III. © 2014 Elsevier Masson SAS.