1,841 research outputs found
A nonsense mutation in B3GALNT2 is concordant with hydrocephalus in Friesian horses
Background: Hydrocephalus in Friesian horses is a developmental disorder that often results in stillbirth of affected foals and dystocia in dams. The occurrence is probably related to a founder effect and inbreeding in the population. The aim of our study was to find genomic associations, to investigate the mode of inheritance, to allow a DNA test for hydrocephalus in Friesian horses to be developed. In case of a monogenic inheritance we aimed to identify the causal mutation.
Results: A genome-wide association study of hydrocephalus in 13 cases and 69 controls using 29,720 SNPs indicated the involvement of a region on ECA1 (P T corresponding to XP_001491595 p.Gln475* was identical to a B3GALNT2 mutation identified in a human case of muscular dystrophy-dystroglycanopathy with hydrocephalus. All 16 available cases and none of the controls were homozygous for the mutation, and all 17 obligate carriers (= dams of cases) were heterozygous. A random sample of the Friesian horse population (n = 865) was tested for the mutation in a commercial laboratory. One-hundred and forty-seven horses were carrier and 718 horses were homozygous for the normal allele; the estimated allele frequency in the Friesian horse population is 0.085.
Conclusions: Hydrocephalus in Friesian horses has an autosomal recessive mode of inheritance. A nonsense mutation XM_001491545 c.1423C>T corresponding to XP_001491595 p.Gln475* in B3GALNT2 (1: 75,859,296-75,909,376) is concordant with hydrocephalus in Friesian horses. Application of a DNA test in the breeding programme will reduce the losses caused by hydrocephalus in the Friesian horse population
Dietary elimination of children with food protein induced gastrointestinal allergy – micronutrient adequacy with and without a hypoallergenic formula?
Background:
The cornerstone for management of Food protein-induced gastrointestinal allergy (FPGIA) is dietary exclusion; however the micronutrient intake of this population has been poorly studied. We set out to determine the dietary intake of children on an elimination diet for this food allergy and hypothesised that the type of elimination diet and the presence of a hypoallergenic formula (HF) significantly impacts on micronutrient intake.
Method:
A prospective observational study was conducted on children diagnosed with FPIGA on an exclusion diet who completed a 3 day semi-quantitative food diary 4 weeks after commencing the diet. Nutritional intake where HF was used was compared to those without HF, with or without a vitamin and mineral supplement (VMS).
Results:
One-hundred-and-five food diaries were included in the data analysis: 70 boys (66.7%) with median age of 21.8 months [IQR: 10 - 67.7]. Fifty-three children (50.5%) consumed a HF and the volume of consumption was correlated to micronutrient intake. Significantly (p <0.05) more children reached their micronutrient requirements if a HF was consumed. In those without a HF, some continued not to achieve requirements in particular for vitamin D and zinc, in spite of VMS.
Conclusion:
This study points towards the important micronutrient contribution of a HF in children with FPIGA. Children, who are not on a HF and without a VMS, are at increased risk of low intakes in particular vitamin D and zinc. Further studies need to be performed, to assess whether dietary intake translates into actual biological deficiencies
Integrated analysis of global proteome, phosphoproteome, and glycoproteome enables complementary interpretation of disease-related protein networks
Multi-dimensional proteomic analyses provide different layers of protein information, including protein abundance and post-translational modifications. Here, we report an integrated analysis of protein expression, phosphorylation, and N-glycosylation by serial enrichments of phosphorylation and N-glycosylation (SEPG) from the same tissue samples. On average, the SEPG identified 142,106 unmodified peptides of 8,625 protein groups, 18,846 phosphopeptides (15,647 phosphosites), and 4,019 N-glycopeptides (2,634 N-glycosites) in tumor and adjacent normal tissues from three gastric cancer patients. The combined analysis of these data showed that the integrated analysis additively improved the coverages of gastric cancer-related protein networks; phosphoproteome and N-glycoproteome captured predominantly low abundant signal proteins, and membranous or secreted proteins, respectively, while global proteome provided abundances for general population of the proteome. Therefore, our results demonstrate that the SEPG can serve as an effective approach for multi-dimensional proteome analyses, and the holistic profiles of protein expression and PTMs enabled improved interpretation of disease-related networks by providing complementary information.11103Ysciescopu
Evaluation of Interceptor long-lasting insecticidal nets in eight communities in Liberia
BACKGROUND: By 2008, the WHO Pesticide Evaluation Scheme (WHOPES) recommended five long-lasting insecticidal nets (LLINs) for the prevention of malaria: Olyset((R)), PermaNet 2.0((R)), Netprotect((R)), Duranet((R)) and Interceptor((R)). Field information is available for both Olyset(R) and PermaNet((R)), with limited data on the newer LLINs. To address this gap, a field evaluation was carried out to determine the acceptability and durability of Interceptor((R)) LLINs. METHODS: A one-year prospective field study was conducted in eight rural returnee villages in Liberia. Households were randomized to receive Interceptor((R)) LLINs or conventionally treated nets (CTNs). Primary outcomes were levels of residual alpha-cypermethrin measured by HPLC and participant utilization/acceptability of the ITNs. RESULTS: A total of 398 nets were analysed for residual alpha-cypermethrin. The median baseline concentrations of insecticide were 175.5 mg/m2 for the Interceptor((R)) LLIN and 21.8 mg/m2 for the CTN. Chemical residue loss after a one year follow-up period was 22% and 93% respectively. Retention and utilization of nets remained high (94%) after one year, irrespective of type, while parasitaemia prevalence decreased from 29.7% at baseline to 13.6% during the follow up survey (p = < 0.001). Interview and survey data show perceived effectiveness of ITNs was just as important as other physical attributes in influencing net utilization. CONCLUSION: Interceptor((R)) LLINs are effective and desirable in rural communities in Liberia. Consideration for end user preferences should be incorporated into product development of all LLINs in the future, in order to achieve optimum retention and utilization
Design, implementation and evaluation of a national campaign to distribute nine million free LLINs to children under five years of age in Tanzania.
BACKGROUND\ud
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After a national voucher scheme in 2004 provided pregnant women and infants with highly subsidized insecticide-treated nets (ITNs), use among children under five years (U5s) in mainland Tanzania increased from 16% in 2004 to 26.2% in 2007. In 2008, the Ministry of Health and Social Welfare planned a catch-up campaign to rapidly and equitably deliver a free long-lasting insecticidal net (LLIN) to every child under five years in Tanzania.\ud
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METHODS\ud
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The ITN Cell, a unit within the National Malaria Control Programme (NMCP), coordinated the campaign on behalf of the Ministry of Health and Social Welfare. Government contractors trained and facilitated local government officials to supervise village-level volunteers on a registration of all U5s and the distribution and issuing of LLINs. The registration results formed the basis for the LLIN order and delivery to village level. Caregivers brought their registration coupons to village issuing posts during a three-day period where they received LLINs for their U5s. Household surveys in five districts assessed ITN ownership and use immediately after the campaign.\ud
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RESULTS\ud
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Nine donors contributed to the national campaign that purchased and distributed 9.0 million LLINs at an average cost of $7.07 per LLIN, including all campaign-associated activities. The campaign covered all eight zones of mainland Tanzania, the first region being covered separately during an integrated measles immunization/malaria LLIN distribution in August 2008, and was implemented one zone at a time from March 2009 until May 2010. ITN ownership at household level increased from Tanzania's 2008 national average of 45.7% to 63.4%, with significant regional variations. ITN use among U5s increased from 28.8% to 64.1%, a 2.2-fold increase, with increases ranging from 22.1-38.3% percentage points in different regions.\ud
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CONCLUSION\ud
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A national-level LLIN distribution strategy that fully engaged local government authorities helped avoid additional burden on the healthcare system. Distribution costs per net were comparable to other public health interventions. Particularly among rural residents, ITN ownership and use increased significantly for the intended beneficiaries. The upcoming universal LLIN distribution and further behaviour change communication will further improve ITN ownership and use in 2010-2011
Neuroinflammation and structural injury of the fetal ovine brain following intra-amniotic Candida albicans exposure.
BackgroundIntra-amniotic Candida albicans (C. Albicans) infection is associated with preterm birth and high morbidity and mortality rates. Survivors are prone to adverse neurodevelopmental outcomes. The mechanisms leading to these adverse neonatal brain outcomes remain largely unknown. To better understand the mechanisms underlying C. albicans-induced fetal brain injury, we studied immunological responses and structural changes of the fetal brain in a well-established translational ovine model of intra-amniotic C. albicans infection. In addition, we tested whether these potential adverse outcomes of the fetal brain were improved in utero by antifungal treatment with fluconazole.MethodsPregnant ewes received an intra-amniotic injection of 10(7) colony-forming units C. albicans or saline (controls) at 3 or 5 days before preterm delivery at 0.8 of gestation (term ~ 150 days). Fetal intra-amniotic/intra-peritoneal injections of fluconazole or saline (controls) were administered 2 days after C. albicans exposure. Post mortem analyses for fungal burden, peripheral immune activation, neuroinflammation, and white matter/neuronal injury were performed to determine the effects of intra-amniotic C. albicans and fluconazole treatment.ResultsIntra-amniotic exposure to C. albicans caused a severe systemic inflammatory response, illustrated by a robust increase of plasma interleukin-6 concentrations. Cerebrospinal fluid cultures were positive for C. albicans in the majority of the 3-day C. albicans-exposed animals whereas no positive cultures were present in the 5-day C. albicans-exposed and fluconazole-treated animals. Although C. albicans was not detected in the brain parenchyma, a neuroinflammatory response in the hippocampus and white matter was seen which was characterized by increased microglial and astrocyte activation. These neuroinflammatory changes were accompanied by structural white matter injury. Intra-amniotic fluconazole reduced fetal mortality but did not attenuate neuroinflammation and white matter injury.ConclusionsIntra-amniotic C. albicans exposure provoked acute systemic and neuroinflammatory responses with concomitant white matter injury. Fluconazole treatment prevented systemic inflammation without attenuating cerebral inflammation and injury
Conductivity and quasinormal modes in holographic theories
We show that in field theories with a holographic dual the retarded Green's
function of a conserved current can be represented as a convergent sum over the
quasinormal modes. We find that the zero-frequency conductivity is related to
the sum over quasinormal modes and their high-frequency asymptotics via a sum
rule. We derive the asymptotics of the quasinormal mode frequencies and their
residues using the phase-integral (WKB) approach and provide analytic insight
into the existing numerical observations concerning the asymptotic behavior of
the spectral densities.Comment: 24 pages, 3 figure
The Sphaleron Rate in SU(N) Gauge Theory
The sphaleron rate is defined as the diffusion constant for topological
number NCS = int g^2 F Fdual/32 pi^2. It establishes the rate of equilibration
of axial light quark number in QCD and is of interest both in electroweak
baryogenesis and possibly in heavy ion collisions. We calculate the
weak-coupling behavior of the SU(3) sphaleron rate, as well as making the most
sensible extrapolation towards intermediate coupling which we can. We also
study the behavior of the sphaleron rate at weak coupling at large Nc.Comment: 18 pages with 3 figure
Bulk spectral function sum rule in QCD-like theories with a holographic dual
We derive the sum rule for the spectral function of the stress-energy tensor
in the bulk (uniform dilatation) channel in a general class of strongly coupled
field theories. This class includes theories holographically dual to a theory
of gravity coupled to a single scalar field, representing the operator of the
scale anomaly. In the limit when the operator becomes marginal, the sum rule
coincides with that in QCD. Using the holographic model, we verify explicitly
the cancellation between large and small frequency contributions to the
spectral integral required to satisfy the sum rule in such QCD-like theories.Comment: 16 pages, 2 figure
Charged, conformal non-relativistic hydrodynamics
We embed a holographic model of an U(1) charged fluid with Galilean
invariance in string theory and calculate its specific heat capacity and
Prandtl number. Such theories are generated by a R-symmetry twist along a null
direction of a N=1 superconformal theory. We study the hydrodynamic properties
of such systems employing ideas from the fluid-gravity correspondence.Comment: 31 pages, 1 figure, JHEP3 style, refs added, typos corrected, missing
terms in spatial charge current and field corrections added, to be published
in JHE
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