bluuebunny/crossref_metadata_2025_split huggingface dataset:
Variable frequency of LRRK2 variants in the Latin American research consortium on the genetics of Parkinson’s disease (LARGE-PD), a case of ancestry
Authors: Cornejo-Olivas Mario , Torres Luis , Velit-Salazar Mario R. , Inca-Martinez Miguel , Mazzetti Pilar , Cosentino Carlos , Micheli Federico , Perandones Claudia , Dieguez Elena , Raggio Victor , Tumas Vitor , Borges Vanderci , Ferraz Henrique B. , Rieder Carlos R. M. , Shumacher-Schuh Artur , Velez-Pardo Carlos , Jimenez-Del-Rio Marlene , Lopera Francisco , Chang-Castello Jorge , Andreé-Munoz Brennie , Waldherr Sarah , Yearout Dora , Zabetian Cyrus P. , Mata Ignacio F. 
Published: May 2017

AbstractMutations in Leucine Repeat Rich Kinase 2 (LRRK2), primarily located in codons G2019 and R1441, represent the most common genetic cause of Parkinson’s disease in European-derived populations. However, little is known about the frequency of these mutations in Latin American populations. In addition, a prior study suggested that a LRRK2 polymorphism (p.Q1111H) specific to Latino and Amerindian populations might be a risk factor for Parkinson’s disease, but this finding requires replication. We screened 1734 Parkinson’s disease patients and 1097 controls enrolled in the Latin American Research Consortium on the Genetics of Parkinson’s disease (LARGE-PD), which includes sites in Argentina, Brazil, Colombia, Ecuador, Peru, and Uruguay. Genotypes were determined by TaqMan assay (p.G2019S and p.Q1111H) or by sequencing of exon 31 (p.R1441C/G/H/S). Admixture proportion was determined using a panel of 29 ancestry informative markers. We identified a total of 29 Parkinson’s disease patients (1.7%) who carried p.G2019S and the frequency ranged from 0.2% in Peru to 4.2% in Uruguay. Only two Parkinson’s disease patients carried p.R1441G and one patient carried p.R1441C. There was no significant difference in the frequency of p.Q1111H in patients (3.8%) compared to controls (3.1%; OR 1.02, p = 0.873). The frequency of LRRK2-p.G2019S varied greatly between different Latin American countries and was directly correlated with the amount of European ancestry observed. p.R1441G is rare in Latin America despite the large genetic contribution made by settlers from Spain, where the mutation is relatively common.
Prevalence of chronic kidney disease markers: Evidence from a three-million married population with fertility desire in rural China
Authors: Du Ye , Zhang Shikun , Hu Mei , Wang Qiaomei , Shen Haiping , Zhang Yiping , Yan Donghai , Li Yuanyuan , Zhang Man , Meng Qun 
Published: May 2017

AbstractWe aimed to assess the prevalence of chronic kidney diseases (CKD) markers among the married residents with fertility desire in rural China. Demographic and clinical data were collected from the National Free Pre-Conception Health Examination Project. Estimated glomerular filtration rate (eGFR) < 60 mL/min//1.73 m2, proteinuria, and hematuria were defined as markers of CKD. GFR was evaluated by using serum creatinine level and the Asian-modified CKD epidemiology collaboration equation. Automated urine dry chemical and microscopic analyses were employed to identify proteinuria and hematuria. The prevalence of CKD markers was 2.92% in the 3,091,379 participants. eGFR < 60 mL/min//1.73 m2, hematuria and proteinuria was observed in 0.85%, 1.41% and 0.71%, respectively. The prevalence of CKD markers varied greatly across different geographical locations, which was the highest in the Eastern Region (3.86%; 95% confidence interval [CI]: 3.81–3.91%), moderate in the Central Region (2.80%; 95% CI: 2.77–2.82%), and lowest in the Western Region (2.62%; 95% CI: 2.59–2.65%). Hypertension, obesity, positive hepatitis B virus surface antigen (HBsAg), age (increased by every 5 years), female gender, and living area were potential risk factors for CKD. In rural China, the prevalence of CKD markers in the married couples with fertility desire is low.
Donor and recipient contribution to phenotypic traits and the expression of biomineralisation genes in the pearl oyster model Pinctada margaritifera
Authors: Blay Carole , Planes Serge , KY Chin-Long 
Published: May 2017

AbstractGrafting associates two distinct genotypes, each of which maintains its own genetic identity throughout the life of the grafted organism. Grafting technology is well documented in the plant kingdom, but much less so in animals. The pearl oyster, Pinctada margaritifera, produces valuable pearls as a result of the biomineralisation process of a mantle graft from a donor inserted together with a nucleus into the gonad of a recipient oyster. To explore the respective roles of donor and recipient in pearl formation, a uniform experimental graft was designed using donor and recipient oysters monitored for their growth traits. At the same time, phenotypic parameters corresponding to pearl size and quality traits were recorded. Phenotypic interaction analysis demonstrated: 1) a positive correlation between recipient shell biometric parameters and pearl size, 2) an individual donor effect on cultured pearl quality traits. Furthermore, the expressions of biomineralisation biomarkers encoding proteins in the aragonite or prismatic layer showed: 1) higher gene expression levels of aragonite-related genes in the large donor phenotype in the graft tissue, and 2) correlation of gene expression in the pearl sac tissue with pearl quality traits and recipient biometric parameters. These results emphasize that pearl size is mainly driven by the recipient and that pearl quality traits are mainly driven by the donor.
MTI-101 treatment inducing activation of Stim1 and TRPC1 expression is a determinant of response in multiple myeloma
Authors: Emmons Michael F. , Anreddy Nagaraju , Cuevas Javier , Steinberger Kayla , Yang Shengyu , McLaughlin Mark , Silva Ariosto , Hazlehurst Lori A. 
Published: May 2017

AbstractThe emergence of drug resistance continues to be a major hurdle towards improving patient outcomes for the treatment of Multiple Myeloma. MTI-101 is a first-in-class peptidomimetic that binds a CD44/ITGA4 containing complex and triggers necrotic cell death in multiple myeloma cell lines. In this report, we show that acquisition of resistance to MTI-101 correlates with changes in expression of genes predicted to attenuate Ca2+ flux. Consistent with the acquired resistant genotype, MTI-101 treatment induces a rapid and robust increase in intracellular Ca2+ levels in the parental cells; a finding that was attenuated in the acquired drug resistant cell line. Mechanistically, we show that pharmacological inhibition of store operated channels or reduction in the expression of a component of the store operated Ca2+ channel, TRPC1 blocks MTI-101 induced cell death. Importantly, MTI-101 is more potent in specimens obtained from relapsed myeloma patients, suggesting that relapse may occur at a cost for increased sensitivity to Ca2+ overload mediated cell death. Finally, we demonstrate that MTI-101 is synergistic when combined with bortezomib, using both myeloma cell lines and primary myeloma patient specimens. Together, these data continue to support the development of this novel class of compounds for the treatment of relapsed myeloma.
Aetiology and Outcomes of Suspected Infections of the Central Nervous System in Children in Mbarara, Uganda
Authors: Page Anne-Laure , Boum II Yap , Kemigisha Elizabeth , Salez Nicolas , Nanjebe Deborah , Langendorf Céline , Aberrane Said , Nyehangane Dan , Nackers Fabienne , Baron Emmanuel , Charrel Rémi , Mwanga-Amumpaire Juliet 
Published: May 2017

AbstractInfections of the central nervous system (CNS) are severe conditions, leading to neurological sequelae or death. Knowledge of the causative agents is essential to develop guidelines for case management in resource-limited settings. Between August 2009 and October 2012, we conducted a prospective descriptive study of the aetiology of suspected CNS infections in children two months to 12 years old, with fever and at least one sign of CNS involvement in Mbarara Hospital, Uganda. Children were clinically evaluated on admission and discharge, and followed-up for 6 months for neurological sequelae. Pathogens were identified from cerebrospinal fluid (CSF) and blood using microbiological and molecular methods. We enrolled 459 children. Plasmodium falciparum (36.2%) and bacteria in CSF (13.3%) or blood (3.3%) were the most detected pathogens. Viruses were found in 27 (5.9%) children. No pathogen was isolated in 207 (45.1%) children. Patterns varied by age and HIV status. Eighty-three (18.1%) children died during hospitalisation, and 23 (5.0%) during follow-up. Forty-one (13.5%) children had neurological sequelae at the last visit. While malaria remains the main aetiology in children with suspected CNS infections, no pathogen was isolated in many children. The high mortality and high rate of neurological sequelae highlight the need for efficient diagnosis.
Social cognition in autism: Face tuning
Authors: Pavlova Marina A. , Guerreschi Michele , Tagliavento Lucia , Gitti Filippo , Sokolov Alexander N. , Fallgatter Andreas J. , Fazzi Elisa 
Published: May 2017

AbstractFaces convey valuable information for social cognition, effective interpersonal interaction, and non-verbal communication. Face perception is believed to be atypical in autism, but the origin of this deficit is controversial. Dominant featural face encoding is suggested to be responsible for face tuning scarcity. Here we used a recently developed Face-n-Food paradigm for studying face tuning in individuals with autistic spectrum disorders (ASD). The key benefit of these images is that single components do not explicitly trigger face processing. In a spontaneous recognition task, adolescents with autism and typically developing matched controls were presented with a set of Face-n-Food images in different degree resembling a face (slightly bordering on the Giuseppe Arcimboldo style). The set of images was shown in a predetermined order from the least to most resembling a face. Thresholds for recognition of the Face-n-Food images as a face in ASD individuals were substantially higher than in typically developing controls: they did not report seeing a face on the images, which controls easily recognized as a face, and gave overall fewer face responses. This outcome not only lends support to atypical face tuning, but provides novel insights into the origin of face encoding deficits in autism.
Cumulative impacts: thermally bleached corals have reduced capacity to clear deposited sediment
Authors: Bessell-Browne Pia , Negri Andrew P. , Fisher Rebecca , Clode Peta L. , Jones Ross 
Published: May 2017

AbstractThe interaction between local, anthropogenic stressors, and larger scale regional/global stressors, is often used to explain the current poor condition of many corals reefs. This form of cumulative pressure is clearly manifested by situations where dredging projects happen to coincide with marine heatwaves that have caused coral bleaching. A key pressure associated with dredging is elevated sedimentation. In this study, 3 coral species (Acropora millepora, Porites spp. and Turbinaria reniformis), representing three common morphologies (branching, massive and foliose respectively), were experimentally induced to bleach by exposure to a temperature of 31 °C for 21 d. The corals were then subjected to a range of sedimentation rates (0, 11, 22 and 40 mg cm−2 d−1), and their sediment-rejection ability quantified after 1 and 7 successive sediment deposition events. Bleached corals were less capable of removing sediments from their surfaces, and sediment accumulated 3 to 4-fold more than on normally-pigmented corals. Repeated deposition resulted in a ~3-fold increase in the amount of sediment remaining on the corals, regardless of bleaching status. These results suggest that adaptive management practices need to be developed to reduce the impacts of future dredging projects that follow or coincide with elevated sea surface temperatures and coral bleaching events.
Defining risk variables causing gas embolism in loggerhead sea turtles (Caretta caretta) caught in trawls and gillnets
Authors: Fahlman Andreas , Crespo-Picazo Jose Luis , Sterba-Boatwright Blair , Stacy Brian A. , Garcia-Parraga Daniel 
Published: May 2017

AbstractIncidental capture, or ‘bycatch’ in fishing gear is a major global threat to sea turtle populations. A recent study showed that underwater entrapment in fishing gear followed by rapid decompression may cause gas bubble formation within the blood stream (embolism) and tissues leading to organ injury, impairment, and even mortality in some bycaught individuals. We analyzed data from 128 capture events using logistic and ordinal regression to examine risk factors associated with gas embolism in sea turtles captured in trawls and gillnets. Likelihood of fatal decompression increases with increasing depth of gear deployment. A direct relationship was found between depth, risk and severity of embolism, which has not been previously demonstrated in any breath-hold diving species. For the trawl fishery in this study, an average trawl depth of 65 m was estimated to result in 50% mortality in by-caught turtles throughout the year. This finding is critical for a more accurate estimation of sea turtle mortality rates resulting from different fisheries and for devising efforts to avoid or minimize the harmful effects of capture.
A Potential Role of Esophageal Cancer Related Gene-4 for Atrial Fibrillation
Authors: Huang Li , Yu Hua , Fan Xinrong , Li Xue , Mao Liang , Cheng Jun , Zeng Xiaorong , Dang Xitong 
Published: May 2017

AbstractEpidemiological studies have shown a strong correlation between tumor and AF. However, the molecular link between tumor and AF remains unknown. ECRG4, a tumor suppressor gene that is expressed in the A-V node and in sporadic ventricular myocytes, inhibits tumorigenesis and monitors tissue homeostasis by functioning as a ‘sentinel’ molecule gauging inflammatory and cell proliferative responses. To explore the potential physiological function of Ecrg4 in heart, we evaluated its distribution in heart, analyzed its expression in patients with persistent AF and in a canine AF model, and dissected the molecular events downstream of Ecrg4. The results showed that the level of Ecrg4 expression is homogenously high in atria and the conduction systems and in sporadic ventricular myocytes. Importantly, the expression of Ecrg4 was significantly decreased in atrial appendages of AF patients than patients with SR. Moreover, in rapid pacing canine AF models, the expression of ECRG4 in atria was significantly decreased compared to that of the controls. Mechanistically, knockdown ECRG4 in atrial myocytes significantly shortened the APDs, inhibited the expression of Gja1, and activated pro-inflammatory cascades and genes involved in cardiac remodeling. These results suggest that Ecrg4 may play a critical role in the pathogenesis of AF.
Red cell distribution width as a significant indicator of medication and prognosis in type 2 diabetic patients
Authors: Xiong Xiao-fen , Yang Yuan , Chen Xianghui , Zhu Xuejing , Hu Chun , Han Yachun , Zhao Li , Liu Fuyou , Sun Lin 
Published: May 2017

AbstractWhether red cell distribution width (RDW) can be a potential indicator for diabetic nephropathy (DN) is unknown. A total of 809 type 2 diabetes mellitus (T2D) patients were divided into 4 groups according to the quartiles (Q) of the RDW (%): Q1 ≤ 12.4 (n = 229), 12.4 < Q2 ≤ 12.9 (n = 202), 12.9 < Q3 < 13.5 (n = 168), Q4 ≥ 13.5 (n = 210). Results showed that the levels in Q4 group was higher in age, disease duration, systolic blood pressure, blood urea nitrogen, creatinine, uric acid and proteinuria but lower in hemoglobin, serum albumin and glycosylated hemoglobin compared to Q1 group. Furthermore, the incidences of DN, diabetic peripheral neuropathy, hypertension and coronary heart disease in the Q3 or Q4 group were higher compared to Q1 group. Medications including calcium channel blockers and antiplatelet therapy also showed higher frequencies in Q3 or Q4 group compared to Q1. Logistic regression indicated that the antiplatelet therapy (OR = 2.065), hypertension (OR = 2.819), creatinine (OR = 4.473) and proteinuria (OR = 2.085) were positively associated with level of Q4 group, but higher hemoglobin (OR = 0.021) and serum Ca2+ (OR = 0.178) were negatively associated with Q4. This data suggest that high level of RDW in T2D patients indicates a higher risk and a poor prognosis for DN.
Lipid Droplet-Associated Hydrolase Promotes Lipid Droplet Fusion and Enhances ATGL Degradation and Triglyceride Accumulation
Authors: Goo Young-Hwa , Son Se-Hee , Paul Antoni 
Published: May 2017

AbstractLipid droplet (LD)-associated hydrolase (LDAH) is a newly identified LD protein abundantly expressed in tissues that predominantly store triacylglycerol (TAG). However, how LDAH regulates TAG metabolism remains unknown. We found that upon oleic acid loading LDAH translocalizes from the ER to newly formed LDs, and induces LD coalescence in a tubulin-dependent manner. LDAH overexpression and downregulation in HEK293 cells increase and decrease, respectively, TAG levels. Pulse and chase experiments show that LDAH enhances TAG biogenesis, but also decreases TAG turnover and fatty acid release from cells. Mutations in predicted catalytic and acyltransferase motifs do not influence TAG levels, suggesting that the effect is independent of LDAH’s enzymatic activity. However, a LDAH alternative-splicing variant missing 90 amino acids at C-terminus does not promote LD fusion or TAG accumulation, while it still localizes to LDs. Interestingly, LDAH enhances polyubiquitination and proteasomal degradation of adipose triglyceride lipase (ATGL), a rate limiting enzyme of TAG hydrolysis. Co-expression of ATGL reverses the changes in LD phenotype induced by LDAH, and both proteins counterbalance their effects on TAG stores. Together, these studies support that under conditions of TAG storage in LDs LDAH plays a primarily lipogenic role, inducing LD growth and enhancing degradation of ATGL.
Integrated proteomic and metabolomic analysis reveals that rhodomyrtone reduces the capsule in Streptococcus pneumoniae
Authors: Mitsuwan Watcharapong , Olaya-Abril Alfonso , Calderón-Santiago Mónica , Jiménez-Munguía Irene , González-Reyes José Antonio , Priego-Capote Feliciano , Voravuthikunchai Supayang P. , Rodríguez-Ortega Manuel J. 
Published: May 2017

AbstractThe emergence of antibiotic-resistant pathogenic bacteria is a healthcare problem worldwide. We evaluated the antimicrobial activity of rhodomyrtone, an acylphloroglucinol present in Rhodomyrtus tomentosa leaves, against the human Gram-positive pathogen Streptococcus pneumoniae. The compound exhibited pronounced anti-pneumococcal activity against a broad collection of clinical isolates. We studied the effects at the molecular level by integrated proteomic and metabolomic analysis. The results revealed alterations in enzymes and metabolites involved in several metabolic pathways including amino acid biosynthesis, nucleic acid biosynthesis, glucid, and lipid metabolism. Notably, the levels of two enzymes (glycosyltransferase and UTP-glucose-1-phosphate uridylyltransferase) and three metabolites (UDP-glucose, UDP-glucuronic acid and UDP-N-acetyl-D-galactosamine) participating in the synthesis of the pneumococcal capsule clearly diminished in the bacterial cells exposed to rhodomyrtone. Rhodomyrtone-treated pneumococci significantly possessed less amount of capsule, as measured by a colorimetric assay and visualized by electron microscopy. These findings reveal the utility of combining proteomic and metabolomic analyses to provide insight into phenotypic features of S. pneumoniae treated with this potential novel antibiotic. This can lead to an alternative antibiotic for the treatment of S. pneumoniae infections, because of the growing concern regarding antimicrobial resistance.
Specific brain activation patterns associated with two neuromuscular electrical stimulation protocols
Authors: Wegrzyk Jennifer , Ranjeva Jean-Philippe , Fouré Alexandre , Kavounoudias Anne , Vilmen Christophe , Mattei Jean-Pierre , Guye Maxime , Maffiuletti Nicola A. , Place Nicolas , Bendahan David , Gondin Julien 
Published: May 2017

AbstractThe influence of neuromuscular electrical stimulation (NMES) parameters on brain activation has been scarcely investigated. We aimed at comparing two frequently used NMES protocols - designed to vary in the extent of sensory input. Whole-brain functional magnetic resonance imaging was performed in sixteen healthy subjects during wide-pulse high-frequency (WPHF, 100 Hz–1 ms) and conventional (CONV, 25 Hz–0.05 ms) NMES applied over thetriceps surae. Each protocol included 20 isometric contractions performed at 10% of maximal force. Voluntary plantar flexions (VOL) were performed as control trial. Mean force was not different among the three protocols, however, total current charge was higher for WPHF than for CONV. All protocols elicited significant activations of the sensorimotor network, cerebellum and thalamus. WPHF resulted in lower deactivation in the secondary somatosensory cortex and precuneus. Bilateral thalami and caudate nuclei were hyperactivated for CONV. The modulation of the NMES parameters resulted in differently activated/deactivated regions related to total current charge of the stimulation but not to mean force. By targeting different cerebral brain regions, the two NMES protocols might allow for individually-designed rehabilitation training in patients who can no longer execute voluntary movements.
Involving the general public in creation and sharing of knowledge about food.
Authors: Algers A. 
Published: May 2017

Abstract
Research suggests that since the whole society is dependent on the quality of food, food science and education need a dialogue with the citizens. Trust in food is decreasing, the concerns are increasing and the societal needs of knowledge about food are more extensive than what can be accomplished by traditional learning. However, very few approaches have been applied in food science allowing scientists and citizens to inform each other. This paper begins by introducing the concepts of open educational resources (OERs) and citizen science (CS). Secondly, a review of the literature on the use of these approaches in the field of food science is presented. Finally, a rationale is introduced to apply these approaches in contested and complex food issues. A literature review resulted in 14 articles that outline the potential or practical involvement of citizens in production or sharing of knowledge about food. OER can be used to facilitate interaction between different stakeholders within and beyond academia and to collaboratively create more robust knowledge that is shared openly and builds on reuse of prior knowledge. CS can be used to collect and analyse data by members of the general public, typically as part of a collaborative project with scientists. In seven out of eight intervention studies the citizens were heavily involved. The studies focused on: food security, food labelling, food aesthetics, food quality, food & biodiversity and general food science. The arguments presented by the authors extend beyond established reasoning for these approaches (usually limited to access and monitoring of large data sets). This literature review suggests that the involvement of the citizens in knowledge about food through CS and OER is beneficial for information symmetry, empowerment, trust and relevance. When research has led to contradictory results and ethical concerns, it is argued that the involvement of citizens has great potential, because a plurality of opinions can lead to sustainable solutions.