bluuebunny/crossref_metadata_2025_split huggingface dataset:
Integration of child–parent screening and cascade testing for familial hypercholesterolaemia
Authors: Wald David S , Wald Nicholas J 
Published: October 2018

Objective To integrate child–parent screening and cascade testing into a single pathway-child-parent cascade screening (CPCS), for the identification of familial hypercholesterolaemia in the population and to estimate the number of new familial hypercholesterolaemia cases identified per child screened and the associated costs. Methods We applied the results from the published MRC Child–Parent Screening Study to 10,000 children, together with cascade testing first degree relatives of parents with a familial hypercholesterolaemia mutation identified by child–parent screening. We estimated the number of familial hypercholesterolaemia cases identified per child screened, the median cost per familial hypercholesterolaemia case identified and the median cost per child screened to identify one case using a range of cholesterol and familial hypercholesterolaemia mutation testing costs. We present a case study to illustrate the application of CPCS in practice. Results CPCS identifies one new familial hypercholesterolaemia case per 70 children screened at a median estimated cost of £960 per new familial hypercholesterolaemia case or £4 per child screened. CPCS identifies an average of four new familial hypercholesterolaemia cases per family. In the case study, six new familial hypercholesterolaemia cases were identified, and preventive treatment started in five, with the index child expected to start when older. Conclusion CPCS for familial hypercholesterolaemia are complementary strategies. The sustainability of cascade testing relies on identifying new unrelated index cases. This is achieved with population-wide child–parent screening. Integrated CPCS is currently better than either method of familial hypercholesterolaemia detection alone. It has the potential to identify all, or nearly all, individuals with familial hypercholesterolaemia in the population at low cost.
Fistuloplasty using a radiation-and-time-saving sheathless balloon catheter
Authors: Crawford Joel , Kokkosis Angela , Kim Pamela , Gasparis Antonios , Labropoulos Nicos 
Published: October 2018

Introduction: Sheath placement in dialysis access interventions is traditionally necessary to obtain imaging, guide percutaneous angioplasty, and evaluate results. The aim of this study was to assess the feasibility of performing sheathless Arterio-venous (AV) access interventions using a novel percutaneous angioplasty balloon catheter. Methods: Between May and September 2017, data on all dialysis access interventions using a novel percutaneous angioplasty balloon with a dedicated injection port were collected. All procedures were performed without a sheath. Success was established as no conversion to sheath placement. Demographic data, location of lesion, time to perform procedure, amount of contrast used, radiation exposure, and access complications were recorded. Ultrasound was used to evaluate access site complications. Results: Sheathless interventions were successful in 24 patients with the mean age of 62 years (29–94). There were 5 PTFE grafts and 19 native fistulas. Lesions were located anywhere from the arterial anastomosis to the cephalic arch. The average balloon size was 6 mm (5–7 mm), and the procedure time was 15.8 min (8–45 min). No access site complications were observed. Conclusion: Sheathless intervention is feasible with several potential advantages, including short procedure time, minimal contrast volume, and reduced radiation exposure. Finally, the lower profile at the access site may result in fewer complications.
The topographical model of MS: Empirical evaluation of the recapitulation hypothesis
Authors: Laitman Benjamin M , Cook Karin , Fletcher Madhuri , Krieger Stephen C 
Published: October 2018

Objective Using the topographical model of multiple sclerosis (MS) to evaluate a longitudinal cohort we (1) test the recapitulation hypothesis, positing that patients’ “disease topography” predicts the clinical pattern of disability accumulation; and (2) identify leading indicators of progression. Methods 10 patients who transitioned from relapsing–remitting MS to secondary progressive MS (SPMS) were evaluated. Neurologic exams were analyzed from relapses, at time of SPMS diagnosis, and most recent visit. Functional systems (FS), location/laterality, and recovery were recorded. The pyramidal/motor system was the target FS assessing symptom laterality and severity at relapse and SPMS time-points. Each patient's clinical course was mapped using the topographical model software. Results Cohort was 80% female, age 31.6 ± 8.6 years at diagnosis, followed average 23.8 ± 8.8 years, mean 3.1 relapses before SPMS. 83.3 ± 0.2% of relapse symptoms were present at transition to SPMS, increasing to 91.0 ± 0.2% at most recent visit. This demonstrates concordance between the topographical distribution of relapse symptoms and deficits from subsequent progression. In the topographical model, progression became apparent 7.75 years earlier than SPMS was diagnosed in practice. Conclusions We demonstrate the model's utility in depicting patients' disease topography as the loci of clinical progression. This could allow for earlier recognition of progressive disease by identifying leading indicators of progression.
Behavior of Multi-HBs in Acetic Acid Dimer and Related Species: QTAIM Dual Functional Analysis Employing Perturbed Structures Generated Using Coordinates from Compliance Force Constants
Authors: Hayashi Satoko , Nishide Taro , Nakanishi Waro 
Published: October 2018

Abstract
The dynamic and static nature of each hydrogen bond (HB) in acetic acid dimer (1), acetamide dimer (2a), thio- and seleno-derivatives of 2a (2b and 2c, respectively), and acetic acid–acetamide mixed dimer (3) was elucidated with QTAIM dual functional analysis (QTAIM-DFA). Such multi-HBs will form in 1–3, in close proximity in space, and interact mutually and strongly with each other. Perturbed structures generated using coordinates derived from the compliance force constants (Cij: the method being called CIV) are employed in QTAIM-DFA, for the establishment of the methodology to elucidate the nature of each HB in the multi-HBs. The dynamic nature of interactions with CIV is described as the “intrinsic dynamic nature of interactions”, since the coordinates corresponding to Cij are invariant to the choice of the coordinate system. Each HB in the multi-HBs of 1–3 are predicted to have the nature of CT-MC (molecular complex formation through charge transfer) appear at the regular closed shell region, which are stronger than each HB of the isomers of 1–3. The methodology to elucidate the nature of multi-HBs is well established, which employs the perturbed structures generated with CIV for QTAIM-DFA.
Accurate Ionization Potentials, Electron Affinities and Electronegativities of Single-Walled Carbon Nanotubes by State-of-the-Art Local Coupled-Cluster Theory
Authors: Saitow Masaaki , Dutta Achintya K , Neese Frank 
Published: October 2018

Abstract
Single-walled carbon nanotubes (SWCNTs) possess novel conducting properties and high potential as a building block for molecular electronic devices. In this paper, we report accurate ionization potentials, electron affinities and electronegativities for large SWCNTs using our state-of-the-art implementations of reduced-scaling coupled-cluster method (DLPNO-CCSD(T)) using triple zeta basis set.
Improvement of HER2I655V TARMS-PCR Performance by DNA Quality Analysis
Authors: Budiarto Bugi Ratno , Azamris Azamris , Desriani Desriani 
Published: October 2018

Reliable TARMS-PCR is a prerequisite in constructing a solid conclusion in genetic diagnostics. The validity of data generated by this molecular technique is hampered by a false positive result. In attempt to develop a TARMS-PCR for HER2I655V genotyping with no interfering of bias we used DNase I to eliminate DNA contaminant resided in PCR reagent. TARMS-PCR without enzyme treatment using recombinant plasmids that contained HER2I655V gene with represented its alleles was used to evaluate the presence of false positive result while DNase I treated-PCR reagent was used in TARMS-PCR to evaluate the effective dose of the enzyme and further to adjust the TARMS-PCR conditions. PCR master mix kit used in this study produced a false positive result on HER2I655V TARMS-PCR as proven by the presence of multiple PCR products in Non-Template Control (NTC) and 0.1 U of the enzyme could eliminate this DNA contaminant effectively, although this pretreatment altered the specificity of HER2I655V TARMS-PCR genotyping on certain genotype. Combination of touchdown TARMS-PCR with another allele-specific primer recovered specificity of detection on this model system. Interestingly, this optimized HER2I655V TARMS-PCR can only be used for genotyping the clinical samples if only further optimization was done using genomic DNA as template
Desigualdades sociais e os desafios à estratégia de eliminação da tuberculose no Brasil
Authors: Fiorati Regina Célia , De Assis Cândido Fernanda Carla , Barros de Souza Larissa , Paschoal Popolin Marcela , Vieira Ramos Antônio Carlos , Arcêncio Ricardo Alexandre 
Published: October 2018

Objetivo: identificar o impacto das desigualdades sociais na cadeia de progressão da tuberculose no Brasil visando à identificação dos nós críticos à eliminação da doença. Método: realizada revisão de literatura dos artigos disponíveis nas bases de dados Cummulative Index to Nursing and Allied Health Literature, Literatura Internacional em Ciências da Saúde e Literatura Latino-Americana e do Caribe em Ciências da Saúde, nos idiomas português, inglês e espanhol. Como critério de inclusão, selecionou-se artigos publicados na íntegra cujo cenário de investigação é o Brasil, no período de 2005 a 2015. Utilizou-se os descritores do Medical Subject Headings, de acordo com as combinações: Access or accessibility and Tuberculosis; social determinants of health and tuberculosis; social vulnerability and tuberculosis; social inequity or social inequality and tuberculosis. A análise dos estudos selecionados pautou-se no referencial de Melnyk, Fineout-Overholt por meio da análise da qualidade do nível de evidência científica dos artigos selecionados com base na Classificação dos Níveis de Evidências Científicas. Resultados: foram analisados 45 artigos, os quais mostraram os principais determinantes sociais da saúde que representam barreiras à meta End TB, sendo eles: as condições econômicas, seguida pela acessibilidade a serviços, violação de direitos e estilos de vida, fatores estes que impactam na cadeia de progressão da tuberculose. Conclusão: desigualdades sociais são barreiras consideráveis à eliminação da doença, portanto intervenções de amplo espectro devem ser consideradas. Os desafios à sociedade brasileira ainda são substanciais e devem envolver para além do setor da saúde, os setores ligados à gestão pública nas várias esferas governamentais.
Palavras-chave: Tuberculose; Determinantes Sociais; Vulnerabilidade Social; Desigualdade Social; Iniquidade Social.
PL-009 Not just a one HIIT wonder: two popular HIIT protocols elicit similar health benefits in a controlled but real world environment
Authors: Hesketh Katie , Cocks Latthew , Shepherd Sam , Wagenmakers Anton , Strauss Juliette 
Published: October 2018

Objective Currently 40% of the UK do not meet the physical activity guidelines with a ‘lack of time’ the most commonly cited barrier to sufficient physical activity. In laboratory based training interventions, high intensity interval training (HIT) offers a time-efficient alternative to moderate intensity continuous training (MICT) but its success requires expensive specialised cycle ergometers and vigorous encouragement from the researchers. To investigate whether two popular HIT protocols, performed using readily available cycle ergometers and without encouragement, can improve aerobic exercise capacity, arterial stiffness and body composition.
Methods Eighty-two sedentary males (n=26) and females (n=56) aged 18-65 participated in the study (28±1 y, BMI 25±0.4 kg.m-2). In a randomised cross-over design, participants completed either 6 weeks of 30HIT (4-8x30s sprint with 120s active recovery) or 60HIT (6-10x60s sprint with 60s active recovery). Training sessions were completed on a Wattbike, 3 times per week. VO2peak, body composition (DXA scan), blood glucose (oral glucose tolerance test (OGTT)) and arterial stiffness (pulse wave velocity (PWV)) were assessed pre and post each 6-week training phase, with 4-6 weeks washout period between interventions.
Results VO2peakincreased post intervention in 30HIT (36±1 to 39±1 ml.min-1.kg-1) and 60HIT (36±1 to 39±1 ml.min-1.kg-1) (P<0.001), with no difference between intervention group (P=0.208). Body fat percentage decreased pre to post training in both conditions (P=0.001). PWV decreased in 30HIT (2%) and 60HIT (4%) (P<0.005). During the OGTT, there was a trend towards decreasing area under the curve pre to post (P=0.083). When normalized to Watt maxthe participants producing a higher mean power output improved their VO2peakmore than those producing a low MPO (P<0.05). Following further analysis this was only true in 60HIT (P<0.05).
Conclusions Both 30HIT and 60HIT could be effective real world strategies to improve aerobic capacity, body composition, arterial stiffness and insulin sensitivity. Improvements were seen even though the time spent sprinting was less in 30HIT (4mins compared to 10mins in 60HIT). In addition, how the 30HIT protocol is executed does not seem to have an effect on physiological outcomes. This suggests 30HIT may be a more applicable training intervention in the real world.
PL-010 Chronic mild stress improves glucose homeostasis via myonectin-mediated suppression of sympathetic activity in high-fat diet-fed mice
Authors: Qi Zhengtang , Xia Jie , Xue Xiangli , Li Xingtian , Cui Zhiming , Zhang Xue , Cao Lu , Weina Liu , Shuzhe Ding 
Published: October 2018

Objective Recent studies suggest that chronic stress exposure can ameliorate the progression of diet-induced prediabetic disease, by inhibiting an increase in weight gain, caloric intake and efficiency and insulin resistance. To determine the underlying mechanism by which chronic stress improves the progression of type 2 diabetes, we developed a model of chronic mild stress in high-fat diet(HFD)-fed mice which are resistant to obesity and exhibit a healthy-like metabolic phenotype.
Methods High-fat diet (HFD): 45% kcal derived from fat (Research Diets, Inc.).Mice experienced one stressor during the day and a different stressor during the night. Stressors were randomly chosen from the following list : cage tilt on a 45° angle for 1 to 16 h; food deprivation for 12 to 16 h; white noise for 1 to 16 h; strobe light illumination for 1 to 16 h; crowded housing; light cycle (continuous illumination) for 24 to 36 h; dark cycle (continuous darkness) for 24 to 36 h; water deprivation for 12 to 16 h; damp bedding (200 ml water poured into sawdust bedding) for 12 to 16 h.Recombinant adeno-associated virus (AAV): AAV9 vectors encoding myonectin under the control of the ubiquitous CMV promoter (AAV9-CMV-Vip) or an equal dose of the AAV9-CMV-null vector were delivered to C57BL/6 mice by the tail vein. Mice were deprived of food for 16 h and then subjected to test 7 days after AAV injection.
Results Chronic stress improved glucose intolerance and sympathetic overactivity in HFD-fed mice. Chronic stress attenuated epinephrine(EPI)-stimulated glycerol release into blood in vivo and accelerated glycerol release from white adipose tissue followed by in vitro incubation with EPI. Chronic stress reduced plasma triglyceride but increased the levels of plasma insulin and myonectin. We further found that adeno-associated virus 9 (AAV9)-mediated myonectin overexpression improved glucose homeostasis and reduced epinephrine sensitivity. Myonectin overexpression reduced plasma norepinephrine, EPI and leptin levels, and increased insulin sensitivity in brown and white adipose tissue. Intense sympathetic activity with high-intensity running inhibited myonectin expression in skeletal muscle, whereas medium and low-intensity exercise running increased myonectin expression.
Conclusions These findings suggest that chronic mild stress can improve glucose homeostasis via myonectin-mediated suppression of sympathetic activity in high-fat diet-fed mice.
PL-020 Establishment of skeletal muscle-specific PGC-1α overexpression model via in vivo local transfection
Authors: Wang Tiantian , Zhang Ziyi , Bo Hai , Zhang Yong 
Published: October 2018

Objective To establish a skeletal muscle-specific PGC-1α overexpression mouse model via in vivo local transfection.
Methods For the PGC-1α in vivo transfection study, the Male FVB/N mice were randomly divided into 2 groups: subject to green fluorescent protein (GFP) transfection (Con-GFP), and subject to PGC-1α in vivo transfection (Con-PGC-1α). Plasmid DNA solution (2.5 mg/ml GFP or 2.7 mg/ml Flag-PGC-1α) were injected into the proximal (6 ml) and distal (6 ml) ends of the muscle belly. Following the injections, electric pulses were applied through 2 stainless steel pin electrodes laid on top of the proximal and distal myotendinous junctions. Then skeletal muscle and myocardium were isolated, and PGC-1α, mtTFA, NF-κB, MnSOD, FNDC5 protein expression were measured with Western blot.
Results n skeletal muscle, compared with con-GFP group, the expression of PGC-1α (+125%, p<0.01), mtTFA (+210%, p<0.01), and FNDC5 (+47%, p<0.05) were significantly increased in con-PGC-1α group. However, NF-κB and MnSOD protein level had no change in con-PGC-1α group. In myocardium, compared with con-GFP group, the expression of mtTFA (+130%, p<0.01) and FNDC5 (+55%, p<0.05) were significantly increased in con-PGC-1α group.
Conclusions Skeletal muscle-specific PGC-1α overexpression model via in vivo local transfection was established, which was supported by elevated expression of PGC-1α and its downstream FNDC5 and mtTFA. Furthermore, skeletal muscle-specific PGC-1α overexpression induced increase in myocardial mitochondrial biogenesis, while relative mechanism remains to be determined.
PL - 021 The research of High temperature exercise under different humidity environment effect on the body of water and salt metabolism
Authors: Feng Wenping , Zhang Junfen , Shang Wenyuan , Qiu Pingxue , Yu Aiqi 
Published: October 2018

Objective Objective: This study was to investigate the body under high temperature (33 ℃) with different relative humidity (80%, 50%, 20%) combination of environment, respectively for 20 min 60% VO2max individual strength of quiet before and after the exposure of movement and under the same conditions, by measuring the participants within the body weight, serum sex hormone of blood, blood Na+、K+, Na+、K+ concentration in the urine of change, to explore in the sports stress and thermal stress of two kinds of stimulating the body water and salt metabolism characteristics, and to explore the effects of environmental humidity on the body's homeostasis.
Methods Methods: This study selected 12 students of sports training major from Beijing sports university as subjects, with themselves as the control. The experiment is divided into six categories, respectively: high temperature 33℃ and 20% RH exposure group, the high temperature 33℃ and 20% RH campaign group, high temperature 33℃and 50% RH exposure group, the high temperature 33℃ and 50% RH campaign group, high temperature 33℃ and 80% RH exposure group and high temperature 33℃ and 80% RH. In this study all the environmental temperature are set up to 33℃, exercise intensity level of 60% VO2max selection for individual participants. Before every experiment, all participants were asked to quiet sit for 20 min and then measure the subjects' body weight, charge the subjects' vein blood and urine, take the same operation immediately after the experiment. Blood samples were stored at room temperature for 1 h, and 3000r/min was centrifuged for 20min. Serums were gathered through centrifugation, The urine and Serums were partial shipments in tube to be indicators of measurement. Serum Renin、ANGII、ALD、ADH、ANP、Na+、K+ concentration of serum and urine were tested
Results Results: (1)The subjects' weight loss percentage of exercise group was obviously higher than that of quiet exposure group, the difference is statistically significant (P < 0.01); In 80% RH environment weight loss percentage is significantly higher than that of 50% RH and 20% RH values (P < 0.01).There is no difference between 20%RH and 50%RH. (2) The exercise group of Renin, ANGII, ALD, ADH, concentration is significantly higher than the value of exposed group (P < 0.01), but the ANP concentrations were significantly lower than pure quiet exposure levels (P < 0.01).
Conclusions Conclusions: (1) The body sweat more after exercise than just quiet exposed in high temperature, weight loss phenomenon more obvious; And with the increase of relative humidity environment, dehydration will more serious. (2) Exercise factors can significantly promote the release of blood Renin, ANGII, ALD, ADH and inhibit the release of ANP in the blood. By the way of strengthening the absorption process of water and ions, it can maintain the body's balance of water and ions.
PL - 024 The characteristics for the primary school students’ physical activity
Authors: Gu Hong , Tang Qiang 
Published: October 2018

Objective This thesis provides a theoretical basis for improving children’s physical activity levels and promoting the healthy development of primary school children.
Methods Measuring the height, shape index of children which are in 3-5 grades of primary school in Nanjing and taking the BMI cut-off point of the Cole as the object of this study BMI evaluation criteria. Applying the ActiGraph GT3X accelerometer to measure the physical activity of children in seven consecutive days which includes five school days and two weekend days. By counting the physical activity in a 60s interval, children’s physical activity can be evaluated. Besides, using 100cm as the cut-off point, the number of students’ sedentary breaks can be calculated. And the relationship between the results and students’ BMI characteristics can be discussed.
Results (1) For the male students, the average sedentary breaks, LPA and MVPA time is 849.47min, 297.01min and 37.99 min respectively. And for the female students, the sedentary breaks, LPA and MVPA time is 874.12min, 272.33min, and 32.55min respectively. The male students’ MVPA time is significant higher than the female students (P<0.05), but for both of them, the MVPA time cannot achieve the international children’s physical activity daily recommended amount which is 60min. Besides, there is no difference between different grades(P>0.05). (2) Students’ daily MVPA time was significantly higher than the weekend MVPA time (P <0.05). Male students’ MVPA time in the school days is higher than the MVPA time in the weekend(P<0.01). For the children in different body shape, the MVPA time in the school days is higher than that in the weekend(P<0.05). In the school days, the male students’ MVPA time is significant higher than that of female. (P<0.05). In the weekend, the normal group’s MVPA time is much higher than that of overweight and obese groups(P<0.05).(3) The sedentary breaks of normal group is less than that of overweight and obese groups(P<0.05). There is no significant difference between different gender, grades and BMI(P>0.05).
Conclusions （1）Male students’ MVPA time is higher than the female students.（2）The MVPA time in the school days is much higher than in the weekend. In terms of the sedentary breaks, there is no difference between different gender, grade and body shape.（3）Students with more sedentary breaks get lower BMI,and the change of LPA will be the primary cause of MVPA changing.