bluuebunny/crossref_metadata_2025_split huggingface dataset:
Effects of NRG1 Polymorphisms on Hirschsprung’s Disease Susceptibility: A Meta-analysis
Authors: Jiang Meng , Li Changli , Cao Guoqing , Yang Dehua , Zhang Xi , Yang Li , Li Shuai , Tang Shao-tao 
Published: August 2017

AbstractSubstantial resources have been devoted to evaluate the relationship between NRG1 variants rs7835688 and rs16879552 and Hirschsprung’s Disease (HSCR) but no consistency exists. This meta-analysis aimed to assess the association between the two SNPs and HSCR. PubMed, EMBASE, and Chinese Biological Medicine databases were searched for studies potentially eligible up to March, 2017. The summary odds ratios (ORs) with 95% CIs were calculated from different genetic models. Nine case-control studies (8 for both and 1 for rs16879552 only) involving 1984 HSCR patients and 4220 controls were identified. The combined results showed a significant association between HSCR risk and rs7835688 in all genetic models (per-allele model: OR = 1.66, 95% CI = 1.35–2.05; P = 1.940E-06). Rs16879552 was significantly associated with HSCR in per-allele (OR = 1.50, 95% CI = 1.27–1.76; P = 1.087E-06), additive and recessive model, except for dominant model. Stratified analysis by ethnicity showed that rs7835688 and rs16879552 were only causative for Asians, but not risk locus for Caucasians. Furthermore, pooled data based on segment length indicated that individuals with rs7835688 experienced a significantly higher risk for short-segment HSCR in all genotypes; but rs16879552 was only found to be associated with long-segment HSCR/ total colonic aganglionosis at the allele level.
Predicting synonymous codon usage and optimizing the heterologous gene for expression in E. coli
Authors: Tian Jian , Yan Yaru , Yue Qingxia , Liu Xiaoqing , Chu Xiaoyu , Wu Ningfeng , Fan Yunliu 
Published: August 2017

AbstractOf the 20 common amino acids, 18 are encoded by multiple synonymous codons. These synonymous codons are not redundant; in fact, all of codons contribute substantially to protein expression, structure and function. In this study, the codon usage pattern of genes in the E. coli was learned from the sequenced genomes of E. coli. A machine learning based method, Presyncodon was proposed to predict synonymous codon selection in E. coli based on the learned codon usage patterns of the residue in the context of the specific fragment. The predicting results indicate that Presycoden could be used to predict synonymous codon selection of the gene in the E. coli with the high accuracy. Two reporter genes (egfp and mApple) were designed with a combination of low- and high-frequency-usage codons by the method. The fluorescence intensity of eGFP and mApple expressed by the (egfp and mApple) designed by this method was about 2.3- or 1.7- folds greater than that from the genes with only high-frequency-usage codons in E. coli. Therefore, both low- and high-frequency-usage codons make positive contributions to the functional expression of the heterologous proteins. This method could be used to design synthetic genes for heterologous gene expression in biotechnology.
Peripheral serotonin regulates postoperative intra-abdominal adhesion formation in mice
Authors: Bi Jianbin , Zhang Simin , Du Zhaoqing , Zhang Jia , Deng Yan , Liu Chang , Zhang Jingyao 
Published: August 2017

AbstractThe aim of the present study is to investigate the role and potential mechanisms of peripheral serotonin in postoperative intra-abdominal adhesion formation in mice. The caecum-rubbing operations were conducted for intra-abdominal adhesion formation modelling in wild-type and Tph1−/− mice. The deficiency of serotonin significantly decreased the adhesion scores, weight loss, and adhesion thickness as well as levels of collagen fibres and hydroxyproline in the adhesive tissues. The Tph1−/− mice exhibited a milder inflammatory response and oxidative stress in the adhesive tissues than did the wild-type mice. Moreover, the deficiency of serotonin reduced the levels of PAI-1 and fibrinogen, and raised the t-PA and t-PA/PAI levels in the peritoneal fluids. Moreover, the expressions of CD34, VEGF, TGF-β and 5-HT2B receptor in the adhesive tissues were significantly decreased in the Tph1−/− group mice. Furthermore, the Tph1−/− +5-HTP group showed more severe adhesions than did the Tph1−/− group mice, and the p-chlorophenylalanine (PCPA) could markedly alleviated the adhesion formation in the WT mice. In conclusion, the present study showed that peripheral serotonin regulated postoperative intra-abdominal adhesion formation by facilitating inflammation, oxidative stress, disorder of the fibrinolytic system, angiopoiesis and TGF-β1 expression via the 5-HT2B receptor in the adhesive tissues.
Nanocurcumin is superior to native curcumin in preventing degenerative changes in Experimental Cerebral Malaria
Authors: Dende Chaitanya , Meena Jairam , Nagarajan Perumal , Nagaraj Viswanathan Arun , Panda Amulya Kumar , Padmanaban Govindarajan 
Published: August 2017

AbstractCurcumin has many pharmacological activities despite its poor bioavailability andin vivostability. Here, we show that a nanoformulated curcumin (PLGA-curcumin) has better therapeutic index than native curcumin in preventing the onset of neurological symptoms and delaying the death of mice in experimental cerebral malaria. Oral PLGA-curcumin was at least as effective as native curcumin at a 15-fold lower concentration in preventing the breakdown of blood-brain barrier and inhibition of brain mRNAs for inflammatory cytokines, chemokine receptor CXCR3 and its ligand CXCL10, with an increase in the anti-inflammatory cytokine IL-10. This was also reflected in serum cytokine and chemokine levels. At equivalent concentrations, a single oral dose of PLGA-curcumin was more effective in inhibiting serum IFNγ levels and enhancing IL-10 levels than native curcumin. Even at low concentrations, PLGA-curcumin was superior to native curcumin in inhibiting the sequestration of parasitized-RBCs and CD8+T cells in the brain. A single oral dose of 5 mg PLGA-curcumin containing 350 μg of curcumin resulted in 3–4 fold higher concentration and prolonged presence of curcumin in the brain than that obtained with 5 mg of native curcumin, indicating better bioavailability of PLGA-curcumin. PLGA-curcumin has potential as an adjunct drug to treat human cerebral malaria.
Association of leukocyte telomere length and the risk of age-related hearing impairment in Chinese Hans
Authors: Liu Han , Luo Huajie , Yang Tao , Wu Hao , Chen Dan 
Published: August 2017

AbstractAge-related hearing loss (ARHI) is the most common sensory disorder in the elderly. Although telomere attrition has been shown as a determinant in the pathobiology of various age-related diseases, it remains unknown whether telomere length is associated with ARHI. We hypothesized that decreased leukocyte telomere length (LTL) increased the risk of ARHI. Thus, we measured LTL of 666 ARHI and 43 controls by an established quantitative PCR technique. Four audiogram shape subtypes of ARHI, including “flat shape (FL)”, “2–4 kHz abrupt loss (AL) shape”, “8 kHz dip (8D) shape” and “sloping shape (SL)” could be identified among the cases using K-means cluster analysis. Longer LTL was associated with the reduced incidence of ARHI (adjusted OR = 0.550, 95% CI: 0.420–0.721, P < 0.0001 for all the ARHI; 0.498, 0.318–0.780, P = 0.0023 for FL subgroup; 0.428, 0.292–0.628, P < 0.0001 for AL subgroup; 0.552, 0.399–0.764, P = 0.0003 for mSL subgroup). Subjects in the highest tertile of LTL were at less risk for ARHI than those in the lowest and middle tertiles (OR for ARHI: 0.327, 95% CI 0.170–0.629, P = 0.0008). There was a descending trend of LTL as the degree of pure tone threshold average (PTA) aggravated. These results suggest that telomere attrition may be involved in the progression of ARHI.
Asteroid surface impact sampling: dependence of the cavity morphology and collected mass on projectile shape
Authors: Cheng Bin , Yu Yang , Baoyin Hexi 
Published: August 2017

AbstractIn-situ exploration and remote thermal infrared observation revealed that a large fraction of Solar System small bodies should be covered with granular regolith. The complex and varied geology of the regolith layer may preserve the historical records of the surface modification and topographic evolution experienced by asteroids, especially cratering processes, in which the projectile shape plays a crucial role. Regarding the impact sampling scheme, the projectile-shape dependence of both the cavity morphology and the collected mass remains to be explored. This paper studies the process of the low-speed impact sampling on granular regolith using projectiles of different shapes. The results demonstrate that the projectile shape significantly influences the excavation stage, forming cavities with different morphologies, i.e., cone-shaped, bowl-shaped and U-shaped. We further indicate that the different velocity distributions of the ejecta curtains due to the various projectile shapes result in various amounts of collected mass in sampler canister, regarding which the 60° conical projectile exhibits preferable performance for impact sampling scheme. The results presented in this article are expected to reveal the dependence of the excavation process on projectile shape under micro gravity and provide further information on the optimal designs of impact sampling devices for future sample-return space missions.
CRISPR/Cas9-mediated mutagenesis of the dihydroflavonol-4-reductase-B (DFR-B) locus in the Japanese morning glory Ipomoea (Pharbitis) nil
Authors: Watanabe Kenta , Kobayashi Anna , Endo Masaki , Sage-Ono Kimiyo , Toki Seiichi , Ono Michiyuki 
Published: August 2017

AbstractCRISPR/Cas9 technology is a versatile tool for targeted mutagenesis in many organisms, including plants. However, this technique has not been applied to the Japanese morning glory (Ipomoea [Pharbitis] nil), a traditional garden plant chosen for the National BioResource Project in Japan. We selected dihydroflavonol-4-reductase-B (DFR-B) of I. nil, encoding an anthocyanin biosynthesis enzyme, as the target gene, and changes in the stem colour were observed during the early stages of plant tissue culture by Rhizobium [Agrobacterium]-mediated transformation. Twenty-four of the 32 (75%) transgenic plants bore anthocyanin-less white flowers with bi-allelic mutations at the Cas9 cleavage site in DFR-B, exhibiting a single base insertion or deletions of more than two bases. Thus, these results demonstrate that CRISPR/Cas9 technology enables the exploration of gene functions in this model horticultural plant. To our knowledge, this report is the first concerning flower colour changes in higher plants using CRISPR/Cas9 technology.
A model to predict the incidence of allergic rhinitis based on meteorological factors
Authors: Ouyang Yuhui , Li Jin , Zhang Deshan , Fan Erzhong , Li Ying , Zhang Luo 
Published: August 2017

AbstractMeteorological factors have been shown to affect the physiology, distribution, and amounts of inhaled allergens. The aim of this study was to develop a model to predict the trends for onset of allergic rhinitis (AR) patients. A total of 10,914 consecutive AR outpatients were assessed for the number of daily patient visits over a period of 4 years. Meteorological data were used to assess the relationship between meteorological factors and AR incidence by time-series data and regression analysis. Predictive models for incidence of AR were established in pollen-, dust mite- and mould-sensitive groups of patients, and the predictive performances of meteorological factors on the incidence of AR were estimated using root mean squared errors (RMSEs). The incidence of pollen-, dust mites- and mould-sensitive AR patients was significantly correlated with minimum temperature, vapour pressure, and sea-level pressure, respectively. The correlation between comprehensive meteorological parametric (CMP) and incidence of AR was higher than the correlation between the individual meteorological parameters and AR incidence. CMP had higher performance than individual meteorological parameters for predicting the incidence of AR patients. These findings suggest that the incidence of pollen-, dust mites- and mould-sensitive AR can be predicted employing models based on prevailing meteorological conditions.
Protective Effects of Hypericum perforatum and Quercetin in a Rat Model of Ischemia/Reperfusion Injury of Testes
Authors: Tekin Leyla , Erdemli Mehmet , Erturk Nazile , Aksungur Zeynep , Aktas Serdar , Suzen Alev 
Published: August 2017

Purpose This study aimed to compare the protective effects of Hypericum perforatum (Hp) and quercetin, a flavonoid, against ischemia/reperfusion (I/R) injury in rat testes.
Materials and Methods This study included 28 male Wistar albino rats that were divided into four groups. Except for the sham group, torsion was created by rotating both testes at an angle of 720 degrees clockwise for 2 hours. The Hp and quercetin groups received 25 mg/kg Hp and quercetin intraperitoneally 30 minutes before detorsion, respectively. Orchiectomy was performed for the measurement of markers of oxidative stress and histopathological examination.
Results In the Hp and quercetin groups, malondialdehyde (MDA) and nitric oxide (NO) levels and total oxidant capacity were significantly lower, the glutathione level and total antioxidant status were significantly higher, and Johnsen's testis biopsy scores were significantly higher than in the torsion/detorsion group (p ˂ 0.001). The markers of oxidative injury were significantly lower (p ˂ 0.001) and total antioxidant status was significantly higher (p ˂ 0.001), except for glutathione (p = 0.62) in the Hp group than in the quercetin group. Johnsen's score between Hp and quercetin groups was not significantly different (p = 0.80).
Conclusion Both Hp and quercetin have protective effects against I/R injury of the testes, but the protective effect of Hp was found to be stronger than that of quercetin.
Understanding Experiences of Youth Growing Up with Anorectal Malformation or Hirschsprung's Disease to Inform Transition Care: A Qualitative In-Depth Interview Study
Authors: Nah Shireen , Ong Caroline , Lie Desiree , Marimuttu Vicknesan , Hong Julian , Te-Lu Yap , Low Yee , Jacobsen Anette 
Published: August 2017

Introduction The impact of anorectal malformation (ARM) or Hirschsprung's disease (HD) in children continues into adulthood despite early surgical correction. We aimed to explore the physical, social, and emotional impacts of these conditions on youth to inform best transition care strategies.
Materials and Methods Eligible participants were those aged between 14 and 21 years who had undergone surgery for ARM/HD in our institution. We conducted one-on-one in-depth interviews to saturation using a question guide developed from literature review and clinician expertise. Deidentified transcripts were coded by four coders (two pediatric surgeons, one psychiatrist, and one qualitative expert) for major themes using a constant comparison approach. A theoretical model for understanding the transition experience was developed using grounded theory.
Results Out of 120 patients identified as eligible, 11 youth (6 males) participated in the study. Interviews lasted from 50 to 60 minutes. Four major themes emerged: (1) social support (subthemes: family as core, friends as outer support), (2) cognitive and emotional change (subthemes: realization/recognition of illness, matching emotional response), (3) impact of physical symptoms (subthemes: adverse effects of abnormal bowel habits, gaining bowel continence control leading to overall feeling of control, need to keep disease private), and (4) healthcare providers (viewed as important information sources). Themes did not differ by gender.
Conclusion Our model suggests that participants' understanding of bowel disease evolved over time with a “lightbulb” moment in preteens or early teens accompanied by increasing disease ownership and self-management. Clinicians should independently engage with patients in late childhood to address evolving emotional and information needs and encourage increasing autonomy. Future studies should explore communication approaches to meet transition needs of patients.
Diagnosis and Management of Narcolepsy
Authors: Schneider Logan , Mignot Emmanuel 
Published: August 2017

AbstractType 1 narcolepsy is caused by deficient hypocretin signaling in the central nervous system (CNS), and is distinct from other primary CNS hypersomnias, which seem to lay along a spectrum from type 2 narcolepsy to idiopathic hypersomnia. There appears to be a strong autoimmune diathesis to the development of type 1 narcolepsy, as evidenced by the near universal presence of HLA-DQB1*06:02 in patients. Growing knowledge of the immunogenetic basis of the disease is supported by genetic studies and seasonal variation of type 1 narcolepsy incidence following winter upper respiratory infections (e.g., strep throat and influenza). Despite improved diagnostic accuracy of adding cerebrospinal fluid hypocretin measurement to the traditional workup, recognition of the disorder remains limited by its moderate prevalence and atypical manifestations in different ethnic groups. Treatments are currently symptom-based, and have been extended to other hypersomnias with mixed results.
Corticosteroid Therapy in Neonatal Septic Shock—Do We Prevent Death?
Authors: Altit Gabriel , Vigny-Pau Myriam , Barrington Keith , Dorval Véronique , Lapointe Anie 
Published: August 2017

Objective The aim was to compare survival of patients with septic shock receiving or not hydrocortisone (HC) and to analyze the hemodynamic response to HC.
Study Design It is a retrospective study of 62 premature neonates with septic shock (confirmed bacteremia) and/or necrotizing enterocolitis (NEC) stage 2 and above receiving inotropes with or without HC. We analyzed survival and hemodynamic response to HC.
Results Thirty-nine (63%) premature neonates received HC and were compared with 23 (37%) who only received inotropes. Vasoactive index score (VAI) decreased and blood pressure, urine output, and oxygen requirements improved significantly following HC. Despite receiving more inotropes (VAI of 33 [20–53] vs 10 [8–20], p < 0.001), being more premature (26 ± 2 vs 27 ± 2 weeks, p = 0.02) and more frequently having NEC (64 vs 26%, p = 0.004), patients who received HC had similar survival from septic episode (death: 22% vs 41%, p = 0.12). However, patients receiving HC during their sepsis were less likely to survive at their 1-year postmenstrual age follow-up when accounted for gestational age (GA) at birth and duration of inotropes (hazard ratio 6.08 p = 0.01).
Conclusion HC was used in infants with increased inotropic support. HC during septic shock was associated with similar survival from episode, but with decreased survival at 1-year postmenstrual age.
Results of the Universal 2 Prosthesis in Noninflammatory Osteoarthritic Wrists
Authors: Selles R. , Dias J. , Singh H. , Feitz R. , Moojen T. , Hovius S. , Brinkhorst M. 
Published: August 2017

Background/Purpose Many treatment options are available for wrist osteoarthritis, with the objective of decreasing pain and preserving function. In later stages when midcarpal and radiocarpal osteoarthritis occur, two choices remain: total wrist arthrodesis or total wrist arthroplasty. The purpose of this study is to present the short-term functional changes following total wrist arthroplasty with the Universal 2 total wrist system (Integra Life Sciences) in patients with noninflammatory wrist osteoarthritis.
Patients and Methods Patients with severe noninflammatory wrist osteoarthritis were assessed preoperatively, 6 and 12 months after surgery using a range of motion, grip strength, pain, and the disabilities of the arm, shoulder, and hand (DASH) score. The additional assessment was performed after 1 year for a range of motion using a biaxial electrogoniometer, grip strength, DASH, and the Michigan hand questionnaire.
Results All range of motion directions and grip strength did not change from preoperative values. The DASH score improved from 53 preoperatively to 14 during latest follow-up. Median patients' satisfaction score decreased with approximately 20 points during the last follow-up.
Conclusion The relatively good DASH score combined with the partly maintained wrist range of motion indicates that reconstruction with the Universal 2 total wrist prosthesis should be considered in patients with end-stage noninflammatory wrist osteoarthritis.
Level of Evidence Level IV, therapeutic study.
NFU1-Related Disorders as Key Differential Diagnosis of Cavitating Leukoencephalopathy
Authors: de Souza Paulo , Bortholin Thiago , Burlin Stênio , Naylor Fernando , Oliveira Acary , Pinto Wladimir 
Published: August 2017

AbstractGenetic leukoencephalopathies represent an expanding group of inherited disorders associated with involvement of brain white matter. Cystic degeneration has been previously described with some acquired or inherited leukoencephalopathies. We describe a 6-month-old Brazilian boy with a 2-month history of severe and rapidly progressive developmental and psychomotor regression and seizures. Neurological examination showed spastic tetraparesis and lethargy. Neuroimaging showed diffuse and symmetric cavitating cystic leukoencephalopathy. Whole-exome sequencing revealed compound heterozygous mutations in the NFU1 gene, providing definite genetic diagnosis of multiple mitochondrial dysfunction syndrome type 1. We report a rare presentation of early-onset cystic leukoencephalopathy in the context of multiple mitochondrial dysfunction syndrome type 1.
Mortality and its Causes in a German Cohort with Diabetes Mellitus Type 1 after 20 Years of Follow-Up: The JEVIN Trial
Authors: Heller Tabitha , Kloos Christof , Lehmann Thomas , Schiel Ralf , Lorkowski Stefan , Wolf Gunter , Müller Ulrich , Müller Nicolle 
Published: August 2017

Abstract
Background The JEVIN trial started as a cross-sectional study in 1989/90 in Jena. After a follow-up of more than 20 years, the mortality incidence of JEVIN participants with type 1 diabetes was surveyed.
Methods 103 (78.6%) of the 131 JEVIN patients participating at baseline could be examined. 38 persons (36.9%) had deceased. All JEVIN survey data and routine examinations documented in the electronic patient record EMIL® of surviving and deceased participants were used for analyses. We compared the data of the surviving with the deceased participants (follow-up time: 2,166 person-years).
Results The incidence rate of death was 1.75/100 person-years. Median observation time for all patients was 23.1 years (range 0.61–26.6 years). Mean age at death was 58.5 years (34.2–78.4 years), and diabetes duration 35 years (3.5–68.5 years). Most frequent causes of death were: cardiovascular diseases (48.2%, n=13) and infections (25.9%, n=7). There were no differences in age (p=0.302), diabetes duration (p=0.371), BMI (p=0.535), blood pressure (p=0.622/0.820), gender (p=0.566), and smoking status (p=0.709) between surviving and deceased persons. The mean HbA1c of the last year before death or last visit was higher in the deceased than surviving persons (7.5% vs. 7.0%; p=0.010). 57.4% of the surviving and 87.0% of the deceased participants had nephropathy (p=0.012), 79.7% vs. 89.7% retinopathy (p=0.241) and 61.4% vs. 63.3% neuropathy (p=0.860), but only nephropathy was significantly associated with increased mortality risk (HR=4.208, CI:1.226-14.440; HR=2.360, CI:0.696-8.004; HR=0.944, CI:0.436-2.043).
Conclusions In the JEVIN population with diabetes mellitus type 1 only, diabetic nephropathy was associated with higher mortality risk.