Family reported outcomes, an unmet need in the management of a patient's disease: appraisal of the literature

Abstract: Background: A person’s chronic health condition or disability can have a huge impact on the quality of life (QoL) of the whole family, but this important impact is often ignored. This literature review aims to understand the impact of patients' disease on family members across all medical specialities, and appraise existing generic and disease-specific family quality of life (QoL) measures. Methods: The databases Medline, EMBASE, CINHAL, ASSIA, PsycINFO and Scopus were searched for original articles in English measuring the impact of health conditions on patients' family members/partner using a valid instrument. Results: Of 114 articles screened, 86 met the inclusion criteria. They explored the impact of a relative's disease on 14,661 family members, mostly 'parents' or 'mothers', using 50 different instruments across 18 specialities including neurology, oncology and dermatology, in 33 countries including the USA, China and Australia. These studies revealed a huge impact of patients' illness on family members. An appraisal of family QoL instruments identified 48 instruments, 42 disease/speciality specific and six generic measures. Five of the six generics are aimed at carers of children, people with disability or restricted to chronic disease. The only generic instrument that measures the impact of any condition on family members across all specialities is the Family Reported Outcome Measure (FROM-16). Although most instruments demonstrated good reliability and validity, only 11 reported responsiveness and only one reported the minimal clinically important difference. Conclusions: Family members' QoL is greatly impacted by a relative's condition. To support family members, there is a need for a generic tool that offers flexibility and brevity for use in clinical settings across all areas of medicine. FROM-16 could be the tool of choice, provided its robustness is demonstrated with further validation of its psychometric properties.Peer reviewe

Impairment of Sexual Life in 3,485 Dermatological Outpatients From a Multicentre Study in 13 European Countries

Skin conditions may have a strong impact on patients' sexual life, and thus influence personal relationships. Sexual issues are difficult to discuss directly in clinical practice, and a mediated instrument may be useful to capture such information. In this study item 9 of the Dermatology Life Quality Index was used to collect information on sexual impact of several skin conditions in 13 European countries. Among 3,485 patients, 23.1% reported sexual problems. The impairment was particularly high in patients with hidradenitis suppurativa, prurigo, blistering disorders, psoriasis, urticaria, eczema, infections of the skin, or pruritus. Sexual impact was strongly associated with depression, anxiety, and suicidal ideation. It was generally more frequent in younger patients and was positively correlated with clinical severity and itch. It is important to address the issue of sexual well-being in the evaluation of patients with skin conditions, since it is often linked to anxiety, depression, and even suicidal ideation.Peer reviewedFinal Published versio

Expanding the application of haplotype-based genomic predictions to the wild: A case of antibody response against Teladorsagia circumcincta in Soay sheep

BackgroundGenomic prediction of breeding values (GP) has been adopted in evolutionary genomic studies to uncover microevolutionary processes of wild populations or improve captive breeding strategies. While recent evolutionary studies applied GP with individual single nucleotide polymorphism (SNP), haplotype-based GP could outperform individual SNP predictions through better capturing the linkage disequilibrium (LD) between the SNP and quantitative trait loci (QTL). This study aimed to evaluate the accuracy and bias of haplotype-based GP of immunoglobulin (Ig) A (IgA), IgE, and IgG against Teladorsagia circumcincta in lambs of an unmanaged sheep population (Soay breed) based on Genomic Best Linear Unbiased Prediction (GBLUP) and five Bayesian [BayesA, BayesB, BayesC pi, Bayesian Lasso (BayesL), and BayesR] methods.ResultsThe accuracy and bias of GPs using SNP, haplotypic pseudo-SNP from blocks with different LD thresholds (0.15, 0.2, 0.3, 0.4, 0.5, 0.6, 0.7, 0.8, 0.9, and 1.00), or the combinations of pseudo-SNPs and non-LD clustered SNPs were obtained. Across methods and marker sets, higher ranges of genomic estimated breeding values (GEBV) accuracies were observed for IgA (0.20 to 0.49), followed by IgE (0.08 to 0.20) and IgG (0.05 to 0.14). Considering the methods evaluated, up to 8% gains in GP accuracy of IgG were achieved using pseudo-SNPs compared to SNPs. Up to 3% gain in GP accuracy for IgA was also obtained using the combinations of the pseudo-SNPs with non-clustered SNPs in comparison to fitting individual SNP. No improvement in GP accuracy of IgE was observed using haplotypic pseudo-SNPs or their combination with non-clustered SNPs compared to individual SNP. Bayesian methods outperformed GBLUP for all traits. Most scenarios yielded lower accuracies for all traits with an increased LD threshold. GP models using haplotypic pseudo-SNPs predicted less-biased GEBVs mainly for IgG. For this trait, lower bias was observed with higher LD thresholds, whereas no distinct trend was observed for other traits with changes in LD.ConclusionsHaplotype information improves GP performance of anti-helminthic antibody traits of IgA and IgG compared to fitting individual SNP. The observed gains in the predictive performances indicate that haplotype-based methods could benefit GP of some traits in wild animal populations

Multi-objective optimization of the engine performance and emissions for a hydrogen/gasoline dual-fuel engine equipped with the port water injection system

Hydrogen is one of the most promising options being considered as the fuel of future. However, injection of hydrogen into modern gasoline fueled engines can cause some issues such as power loss. This study, therefore, aims to address this challenge in a simulated hydrogen/gasoline dual-fueled engine by developing a novel and innovative approach without possible side effects such as NOx increment. To achieve this goal, the impacts of water injection and the start of the combustion (SOC) modification in a gasoline/hydrogen duel fueled engine have been rigorously investigated. In current methodology, an engine is simulated using AVL software and the model is validated against the experimental data. The Latin Hypercube design experiment method was employed to determine the design points in 3-dimensional space. Due to the existing trade-off between NOx and BMEP, multi-objective optimization using genetic algorithm (GA) was implemented to determine the optimum values of water injection and SOC in various hydrogen energy shares and the effects of optimum design parameters on the main engine performance and emission parameters were investigated. The results showed that the proposed solution could recover the brake mean effective pressure (BMEP) and in some hydrogen energy shares even increase it above the level of single fueled gasoline engine with the added benefit of there being no increase in NOx compared to the original level. Furthermore, other emissions and engine performance parameters are improved including the engine equivalent Brake specific fuel consumption (BSFC) which was shown to increased up to 4.61

Rapid identification of BCR/ABL1-like acute lymphoblastic leukaemia patients using a predictive statistical model based on quantitative real time-polymerase chain reaction: clinical, prognostic and therapeutic implications.

BCR/ABL1-like acute lymphoblastic leukaemia (ALL) is a subgroup of B-lineage acute lymphoblastic leukaemia that occurs within cases without recurrent molecular rearrangements. Gene expression profiling (GEP) can identify these cases but it is expensive and not widely available. Using GEP, we identified 10 genes specifically overexpressed by BCR/ABL1-like ALL cases and used their expression values - assessed by quantitative real time-polymerase chain reaction (Q-RT-PCR) in 26 BCR/ABL1-like and 26 non-BCR/ABL1-like cases to build a statistical "BCR/ABL1-like predictor", for the identification of BCR/ABL1-like cases. By screening 142 B-lineage ALL patients with the "BCR/ABL1-like predictor", we identified 28/142 BCR/ABL1-like patients (19·7%). Overall, BCR/ABL1-like cases were enriched in JAK/STAT mutations (P < 0·001), IKZF1 deletions (P < 0·001) and rearrangements involving cytokine receptors and tyrosine kinases (P = 0·001), thus corroborating the validity of the prediction. Clinically, the BCR/ABL1-like cases identified by the BCR/ABL1-like predictor achieved a lower rate of complete remission (P = 0·014) and a worse event-free survival (P = 0·0009) compared to non-BCR/ABL1-like ALL. Consistently, primary cells from BCR/ABL1-like cases responded in vitro to ponatinib. We propose a simple tool based on Q-RT-PCR and a statistical model that is capable of easily, quickly and reliably identifying BCR/ABL1-like ALL cases at diagnosis

Power enhancement of a turbo-charged industrial diesel engine by using of a waste heat recovery system based on inverted Brayton and organic Rankine cycles

In this study, energy assessment is performed for an industrial turbocharged diesel engine integrated with a novel waste heat recovery (WHR) system. The exhaust energy is used in inverted Brayton cycle (IBC) for waste heat recovery purpose. Also, the heat energy from IBC heat exchanger is used as the heat source for the organic Rankine cycle (ORC) to produce extra power. The case study engine is modelled in AVL BOOST software and the model is validated against real engine performance data. For studying the performance of the proposed waste energy recovery system, IBC is added to the engine model in AVL BOOST software and the thermodynamic model of the ORC is developed in MATLAB and it is linked to AVL BOOST. Then, the model is solved, and the main engine output parameters are studied at 1800 RPM and various engine loads. The results show that employment of the proposed WHR system leads to enhancement of the system power by about 18%. However, the backpressure produced by installing the WHR system can result in increase of the BSFC up to 3% and reduction of the total thermal efficiency by almost 1% at engine full load condition. The results of this work contribute to determine the interactions between the proposed novel waste heat recovery system (IBC-ORC) and the engine. The proposed bottoming cycle based on IBC-ORC can be installed on existing industrial stationary engines for enhancement of power generation without imposing a new source of power generation

Novel hybrid system of pulsed HHO generator/TEG waste heat recovery for CO reduction of a gasoline engine

Environmental crisis requires using cleaner energy sources for different sectors including the transportation. Hydrogen can support the transition of the automotive industry from petrol and diesel into a sustainable fuel. It could be the main source of energy or the auxiliary fuel in vehicles. As an auxiliary fuel, it has recently been considered in hydroxyl (HHO) form for reducing the emissions from transportation fleet. In this study, an HHO generator with the optimum power consumption was utilised for HHO injection into the intake manifold of a petrol engine as the case study. High concentration of CO is expected to be produced during idling, so the experiments were designed to inject ultra-low HHO for reducing CO emissions. The results were very promising, and it was shown that the CO emission could be reduced by about 98%. Furthermore, a novel design was developed based on the concept of waste heat recovery (WHR) for powering the HHO unit. Engine was simulated in AVL software to design a thermoelectric generators (TEG) for running the HHO unit. Based on the results, TEG can provide the energy required for HHO unit as the energy output of the TEG was between 91 kJ to 169 kJ for the case study while the energy consumption of the proposed HHO generator was just about 1 22.5 kJ. The results of this study are recommending a practical solution for bringing HHO 2 injection from laboratory research into the real practice