189 research outputs found
Achondroplasia with 47, xxy karyotype: a case report of the neonatal diagnosis of an extremely unusual association
Background: The association of achondroplasia and Klinefelter syndrome is extremely rare. To date, five cases have
been previously reported, all of them diagnosed beyond the postnatal period, and only one was molecularly
characterized. We describe the first case of this unusual association diagnosed in the neonatal period, the clinical
findings and the molecular studies undertaken.
Case presentation: The boy was born at term with clinical and radiological features indicating the diagnosis of
achondroplasia or hypochondroplasia combined with the prenatal karyotype of Klinefelter syndrome (47,XXY).
Neonatal FGFR3 mutation screening showed that the newborn was heterozygous for the classic achondroplasia
G340R mutation. Microsatellite marker analysis showed that the sex chromosome aneuploidy had arisen from a
non-disjunction error in paternal meiosis I, with a recombination event in the pseudoautosomal region 1 (PAR1).
Conclusion: Specific mutation analysis is appropriate to confirm the clinical diagnosis of achondroplasia for
appropriate diagnosis, prognosis, and genetic counseling, especially when the karyotype does not explain the
abnormal prenatal sonographic findings. In the present case, a recombination event was observed in the PAR1
region, although recombinational events in paternally derived Klinefelter syndrome cases are much rarer than
expected
Is Point-of-Care testing feasible and safe in care homes in England? An exploratory usability and accuracy evaluation of a point-of-care polymerase chain reaction test for SARS-COV-2
Introduction Reliable rapid testing on COVID-19 is needed in care homes to reduce the risk of outbreaks and enable timely care. Point-of-care testing (POCT) in care homes could provide rapid actionable results. This study aimed to examine the usability and test performance of point of care polymerase chain reaction (PCR) for COVID-19 in care homes.
Methods Point-of-care PCR for detection of SARS-COV2 was evaluated in a purposeful sample of four UK care homes. Test agreement with laboratory real-time PCR and usability and use errors were assessed.
Results Point of care and laboratory polymerase chain reaction (PCR) tests were performed on 278 participants. The point of care and laboratory tests returned uncertain results or errors for 17 and 5 specimens respectively. Agreement analysis was conducted on 256 specimens. 175 were from staff: 162 asymptomatic; 13 symptomatic. 69 were from residents: 59 asymptomatic; 10 symptomatic. Asymptomatic specimens showed 83.3% (95% CI: 35.9%-99.6%) positive agreement and 98.7% negative agreement (95% CI: 96.2%-99.7%), with overall prevalence and bias-adjusted kappa (PABAK) of 0.965 (95% CI: 0.932 – 0.999). Symptomatic specimens showed 100% (95% CI: 2.5%-100%) positive agreement and 100% negative agreement (95% CI: 85.8%-100%), with overall PABAK of 1. No usability-related hazards emerged from this exploratory study.
Conclusion Applications of point-of-care PCR testing in care homes can be considered with appropriate preparatory steps and safeguards. Agreement between POCT and laboratory PCR was good. Further diagnostic accuracy evaluations and in-service evaluation studies should be conducted, if the test is to be implemented more widely, to build greater certainty on this initial exploratory analysis
Bait station devices can improve mass trapping performance for the control of the Mediterranean fruit fly
BACKGROUNDThe use of traps and other attract-and-kill devices in pest management strategies to reduce Mediterranean fruit fly populations has proved to be efficient. Nevertheless, many farmers are concerned about the effect of these devices on the trees where they are hung. Direct field observations have revealed that fruit damage is higher in trees with traps than in trees without them. This work evaluates the efficacy of different types of attract-and-kill device to protect fruit of the single tree on which the device is placed.
RESULTSResults suggested that trees with traps had at least the same fruit damage than trees without them. When traps were baited with protein hydrolysate, fruit damage was even higher than in trees without traps. However, fruit damage was significantly diminished when efficient bait station devices were used.
CONCLUSIONAlthough mass trapping is able to control fruit fly populations as a control method, trees with some types of trap and bait are more susceptible to fly puncture. However, bait station devices reduce fruit damage in the single trees where they are hung. Bait stations are more efficient in fruit protection because fruit flies are affected as soon as they contact the device. Some recommendations for the use of the different attract-and-kill devices are discussed. (c) 2014 Society of Chemical IndustryThe authors would like to thank 'Coop. San Bernardo de Carlet', Carlos Monzo and Vicente Morato for providing trial orchards. This research was funded by the Atomic International Energy Agency through research contract No. 15726. Thanks also to Suterra Europe Biocontrol SL for providing Magnet (R) MED devices.Navarro-Llopis, V.; Primo Millo, J.; Vacas González, S. (2015). Bait station devices can improve mass trapping performance for the control of the Mediterranean fruit fly. Pest Management Science. 71(7):923-927. doi:10.1002/ps.3864S92392771
Lipopolysaccharide-binding protein and future Parkinson's disease risk: a European prospective cohort
INTRODUCTION: Lipopolysaccharide (LPS) is the outer membrane component of Gram-negative bacteria. LPS-binding protein (LBP) is an acute-phase reactant that mediates immune responses triggered by LPS and has been used as a blood marker for LPS. LBP has recently been indicated to be associated with Parkinson's disease (PD) in small-scale retrospective case-control studies. We aimed to investigate the association between LBP blood levels with PD risk in a nested case-control study within a large European prospective cohort. METHODS: A total of 352 incident PD cases (55% males) were identified and one control per case was selected, matched by age at recruitment, sex and study center. LBP levels in plasma collected at recruitment, which was on average 7.8 years before diagnosis of the cases, were analyzed by enzyme linked immunosorbent assay. Odds ratios (ORs) were estimated for one unit increase of the natural log of LBP levels and PD incidence by conditional logistic regression. RESULTS: Plasma LBP levels were higher in prospective PD cases compared to controls (median (interquartile range) 26.9 (18.1-41.0) vs. 24.7 (16.6-38.4) µg/ml). The OR for PD incidence per one unit increase of log LBP was elevated (1.46, 95% CI 0.98-2.19). This association was more pronounced among women (OR 2.68, 95% CI 1.40-5.13) and overweight/obese subjects (OR 1.54, 95% CI 1.09-2.18). CONCLUSION: The findings suggest that higher plasma LBP levels may be associated with an increased risk of PD and may thus pinpoint to a potential role of endotoxemia in the pathogenesis of PD, particularly in women and overweight/obese individuals
Achondroplasia with 47, xxy karyotype: a case report of the neonatal diagnosis of an extremely unusual association
Biomarkers of the transsulfuration pathway and risk of renal cell carcinoma in the European Prospective Investigation into Cancer and Nutrition (EPIC) study
Previous studies have suggested that components of one-carbon metabolism, particularly circulating vitamin B6, have an etiological role in renal cell carcinoma (RCC). Vitamin B6 is a cofactor in the transsulfuration pathway. We sought to holistically investigate the role of the transsulfuration pathway in RCC risk. We conducted a nested case-control study (455 RCC cases and 455 matched controls) within the European Prospective Investigation into Cancer and Nutrition (EPIC) study. Plasma samples from the baseline visit were analyzed for metabolites of the transsulfuration pathway, including pyridoxal 5'-phosphate (PLP, the biologically active form of vitamin B6), homocysteine, serine, cystathionine, and cysteine, in addition to folate. Bayesian conditional logistic regression was used to estimate associations of metabolites with RCC risk as well as interactions with established RCC risk factors. Circulating PLP and cysteine were inversely associated with RCC risk, and these association were not attenuated after adjustment for other transsulfuration metabolites (odds ratio (OR) and 90% credible interval (CrI) per 1 SD increase in log concentration: 0.76 [0.66, 0.87]; 0.81 [0.66, 0.96], respectively). A comparison of joint metabolite profiles suggested substantially greater RCC risk for the profile representative of low overall transsulfuration function compared with high function (OR 2.70 [90% CrI 1.26, 5.70]). We found some statistical evidence of interactions of cysteine with body mass index, and PLP and homocysteine with smoking status, on their associations with RCC risk. In conclusion, we found evidence suggesting that the transsulfuration pathway may play a role in metabolic dysregulation leading to RCC development. This article is protected by copyright. All rights reserved
Point of care testing using rapid automated antigen testing for SARS-COV-2 in care homes – an exploratory safety, usability and diagnostic agreement evaluation
Introduction
Successful adoption of POCTs (Point-of-Care tests) for COVID-19 in care homes requires the identification of ideal use cases and a full understanding of the contextual and usability factors that affect test results and minimise biosafety risks. This paper presents a scoping-usability and test performance study of a microfluidic immunofluorescence assay for COVID-19 in care homes.
Methods
A mixed-methods evaluation was conducted in four UK care homes to scope usability and to assess the agreement with qRT-PCR. A dry run with luminescent dye was conducted to explore biosafety issues.
Results
The agreement analysis was conducted on 227 asymptomatic participants (159 staff and 68 residents) and 14 symptomatic participants (5 staff and 9 residents). Asymptomatic specimens showed 50% (95% CI:1.3%−98.7%) positive agreement and 96% (95% CI: 92.5%−98.1%) negative agreement with overall prevalence and bias-adjusted Kappa (PABAK) of 0.911 (95% CI: 0.857−0.965). Symptomatic specimens showed 83.3% (95% CI: 35.9%−99.6%) positive agreement and 100% (95% CI: 63.1%−100%) negative agreement with overall prevalence and bias-adjusted Kappa (PABAK) of 0.857 (95% CI: 0.549−1). The dry run highlighted four main sources of contamination that led to the modification of the standard operating procedures. Simulation post-modification showed no further evidence of contamination.
Conclusion
Careful consideration of biosafety issues and contextual factors associated with care home are mandatory for safe use the POCT. Whilst POCT may have some utility for ruling out COVID-19, further diagnostic accuracy evaluations are needed to promote effective adoption
Is point-of-care testing feasible and safe in care homes in England? An exploratory usability and accuracy evaluation of a point-of-care polymerase chain reaction test for SARS-CoV-2
Introduction: Reliable rapid testing for COVID-19 is needed in care homes to reduce the risk of outbreaks and enable timely care. This study aimed to examine the usability and test performance of a point of care polymerase chain reaction (PCR) test for detection of SARS-COV2 (POCKITTM Central) in care homes.Methods: POCKITTM Central was evaluated in a purposeful sample of four UK care homes. Test agreement with laboratory real-time PCR and usability and use errors were assessed.Results: No significant usability-related hazards emerged, and the sources of error identified were found to be amendable with minor changes in training or test workflow. POCKITTM Central has acceptable sensitivity and specificity based on RT-PCR as the reference standard, especially for symptomatic cases.Asymptomatic specimens showed 83.3% (95% CI: 35.9%-99.6%) positive agreement and 98.7% negative agreement (95% CI: 96.2%-99.7%), with overall prevalence and bias-adjusted kappa (PABAK) of 0.965 (95% CI: 0.932– 0.999). Symptomatic specimens showed 100% (95% CI: 2.5%-100%) positive agreement and 100% negative agreement (95% CI: 85.8%-100%), with overall PABAK of 1.Recommendations are provided to mitigate the frequency of occurrence of the residual use errors observed. Integration pathways were discussed to identify opportunities and limitations of adopting POCKIT™ Central for screening and diagnostic testing purposes.Conclusion: Point-of-care PCR testing in care homes can be considered with appropriate preparatory steps and safeguards. Further diagnostic accuracy evaluations and in-service evaluation studies should be conducted, if the test is to be implemented more widely, to build greater certainty on this initial exploratory analysis
Association between classes and subclasses of polyphenol intake and 5-year body weight changes in the EPIC-PANACEA study
Objective - The aim of this study was to evaluate the associations among the intake of total polyphenols, polyphenol classes, and polyphenol subclasses and body weight change over 5 years.
Methods - A total of 349,165 men and women aged 25 to 70 years were recruited in the Physical Activity, Nutrition, Alcohol, Cessation of Smoking, Eating Out of Home and Obesity (PANACEA) project of the European Prospective Investigation into Cancer and Nutrition (EPIC) cohort from nine European countries. Body weight was measured at baseline and at follow-up after a median time of 5 years. Polyphenol intake, including four main polyphenol classes and eighteen subclasses, was estimated using validated dietary questionnaires and Phenol-Explorer. Multilevel mixed linear regression models were used to estimate the associations.
Results - Participants gained, on average, 2.6 kg (±5.0 kg) over 5 years. Total flavonoids intake was inversely associated with body weight change (−0.195 kg/5 years, 95% CI: −0.262 to −0.128). However, the intake of total polyphenols (0.205 kg/5 years, 95% CI: 0.138 to 0.272) and intake of hydroxycinnamic acids (0.324 kg/5 years, 95% CI: 0.267 to 0.381) were positively associated with body weight gain. In analyses stratified by coffee consumption, hydroxycinnamic acid intake was positively associated with body weight gain in coffee consumers (0.379 kg/5 years, 95% CI: 0.319 to 0.440), but not in coffee nonconsumers (−0.179 kg/5 years, 95% CI: −0.490 to 0.133).
Conclusions - Higher intakes of flavonoids and their subclasses are inversely associated with a modest body weight change. Results regarding hydroxycinnamic acids in coffee consumers require further investigation
Diet and BMI Correlate with Metabolite Patterns Associated with Aggressive Prostate Cancer
Three metabolite patterns have previously shown prospective inverse associations with the risk of aggressive prostate cancer within the European Prospective Investigation into Cancer and Nutrition (EPIC). Here, we investigated dietary and lifestyle correlates of these three prostate cancer-related metabolite patterns, which included: 64 phosphatidylcholines and three hydroxysphingomyelins (Pattern 1), acylcarnitines C18:1 and C18:2, glutamate, ornithine, and taurine (Pattern 2), and 8 lysophosphatidylcholines (Pattern 3). In a two-stage cross-sectional discovery (n = 2524) and validation (n = 518) design containing 3042 men free of cancer in EPIC, we estimated the associations of 24 dietary and lifestyle variables with each pattern and the contributing individual metabolites. Associations statistically significant after both correction for multiple testing (False Discovery Rate = 0.05) in the discovery set and at p < 0.05 in the validation set were considered robust. Intakes of alcohol, total fish products, and its subsets total fish and lean fish were positively associated with Pattern 1. Body mass index (BMI) was positively associated with Pattern 2, which appeared to be driven by a strong positive BMI-glutamate association. Finally, both BMI and fatty fish were inversely associated with Pattern 3. In conclusion, these results indicate associations of fish and its subtypes, alcohol, and BMI with metabolite patterns that are inversely associated with risk of aggressive prostate cancer
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