bluuebunny/crossref_metadata_2025_split huggingface dataset:
From Genotype to Phenotype: Nonsense Variants in SLC13A1 Are Associated with Decreased Serum Sulfate and Increased Serum Aminotransferases
Authors: Tise Christina G , Perry James A , Anforth Leslie E , Pavlovich Mary A , Backman Joshua D , Ryan Kathleen A , Lewis Joshua P , O’Connell Jeffrey R , Yerges-Armstrong Laura M , Shuldiner Alan R 
Published: August 2016

Abstract
Using genomic applications to glean insights into human biology, we systematically searched for nonsense single nucleotide variants (SNVs) that are rare in the general population but enriched in the Old Order Amish (Amish) due to founder effect. We identified two nonlinked, nonsense SNVs (R12X and W48X) in SLC13A1 (allele frequencies 0.29% and 0.74% in the Amish; enriched 1.2-fold and 3.7-fold, compared to the outbred Caucasian population, respectively). SLC13A1 encodes the apical sodium-sulfate cotransporter (NaS1) responsible for sulfate (re)absorption in the kidneys and intestine. SLC13A1 R12X and W48X were independently associated with a 27.6% (P = 2.7 × 10−8) and 27.3% (P = 6.9 × 10−14) decrease in serum sulfate, respectively (P = 8.8 × 10-20 for carriers of either SLC13A1 nonsense SNV). We further performed the first exome- and genome-wide association study (ExWAS/GWAS) of serum sulfate and identified a missense variant (L348P) in SLC26A1, which encodes the basolateral sulfate-anion transporter (Sat1), that was associated with decreased serum sulfate (P = 4.4 × 10−12). Consistent with sulfate’s role in xenobiotic detoxification and protection against acetaminophen-induced hepatotoxicity, SLC13A1 nonsense SNV carriers had higher aminotransferase levels compared to noncarriers. Furthermore, SLC26A1 L348P was associated with lower whole-body bone mineral density (BMD) and higher serum calcium, consistent with the osteochondrodysplasia exhibited by dogs and sheep with naturally occurring, homozygous, loss-of-function mutations in Slc13a1. This study demonstrates the power and translational potential of systematic identification and characterization of rare, loss-of-function variants and warrants additional studies to better understand the importance of sulfate in human physiology, disease, and drug toxicity.
Evidence for Regulation of ECM3 Expression by Methylation of Histone H3 Lysine 4 and Intergenic Transcription in Saccharomyces cerevisiae
Authors: Raupach Elizabeth A , Martens Joseph A , Arndt Karen M 
Published: August 2016

Abstract
Transcription of nonprotein-coding DNA is widespread in eukaryotes and plays important regulatory roles for many genes, including genes that are misregulated in cancer cells. Its pervasiveness presents the potential for a wealth of diverse regulatory roles for noncoding transcription. We previously showed that the act of transcribing noncoding DNA (ncDNA) across the promoter of the protein-coding SER3 gene in Saccharomyces cerevisiae positions nucleosomes over the upstream activating sequences, leading to strong repression of SER3 transcription. To explore the possibility of other regulatory roles for ncDNA transcription, we selected six candidate S. cerevisiae genes that express ncRNAs over their promoters and analyzed the regulation of one of these genes, ECM3, in detail. Because noncoding transcription can lead to changes in the local chromatin landscape that impinge on the expression of nearby coding genes, we surveyed the effects of various chromatin regulators on the expression of ECM3. These analyses identified roles for the Paf1 complex in positively regulating ECM3 transcription through methylation of histone H3 at lysine 4 (K4) and for Paf1 in controlling the pattern of intergenic transcription at this locus. By deleting a putative promoter for the noncoding transcription unit that lies upstream of ECM3, we provide evidence for a positive correlation between intergenic transcription and ECM3 expression. Our results are consistent with a model in which cotranscriptional methylation of histone H3 K4, mediated by the Paf1 complex and noncoding transcription, leads to activation of ECM3 transcription.
Challenges to Adolescent Confidentiality in a Children’s Hospital
Authors: Talib Hina J. , Silver Ellen J. , Alderman Elizabeth M. 
Published: August 2016

OBJECTIVES:
Protecting confidentiality for hospitalized adolescents can be challenging and may interfere with optimal adolescent-friendly care. The goal of this study was to explore physician trainees’ experience with adolescent confidentiality at an academic children’s hospital.

METHODS:
A total of 175 trainees were invited to complete an online survey about knowledge, attitudes, and experiences with confidential adolescent concerns in the inpatient setting. A total of 133 (76%) responded: 78% female; 65% pediatric or family medicine residents; and 35% medical students.

RESULTS:
In the past year, 56 (42%) of 133 trainees cared for a hospitalized adolescent whose confidentiality had been breached. Barriers to ensuring confidentiality included: patient/family not knowledgeable about minor consent law (50%); trainees not knowledgeable about minor consent law (47%); and hospital discharge summary requiring parental signature (47%). On patient- and family-centered rounds (PFCR), respondents reported that minor adolescents (aged &lt;18 years) compared with young adults (aged ≥18 years) were more likely to have social history discussed away from the bedside (91% vs 84%; P &lt; .001) and less likely to have confidential time with the medical team (28% vs 47%; P &lt; .001). Barriers to participation in PFCR included the following: patient was sleeping (61%), patient declined to participate (51%), and confidentiality concerns (32%).

CONCLUSIONS:
Breaches in confidentiality for hospitalized adolescents are a common trainee experience. On PFCR, adolescents are less likely to have confidential time with the medical team than young adults. In trainees’ experience, hospital systems such as PFCR and discharge procedures pose inherent challenges to confidentiality for minor adolescent patients, as do lack of knowledge of minor consent laws by both clinicians and families.
Recent studies of oxide-semiconductor heterostructures using aberration-corrected scanning transmission electron microscopy
Authors: Smith David J. , Wu HsinWei , Lu Sirong , Aoki Toshihiro , Ponath Patrick , Fredrickson Kurt , McDaniel Martin D. , Lin Edward , Posadas Agham B. , Demkov Alexander A. , Ekerdt John , McCartney Martha R. 
Published: August 2016

Abstract
Beban biaya telekomunikasi yang dikeluarkan masyarakat pengaruh dari adopsi teknologi [Telecommunication costs incurred expenses society effect of technology adoption]
Authors: Ariyanti Sri 
Published: August 2016

Salah satu Rencana Pita Lebar Indonesia tahun 2014 – 2019 yaitu dapat memberikan akses bergerak di wilayah pedesaan menjangkau 52% pupulasi dengan data rate mencapai 1 Mbps. Agar layanan pita lebar dapat terjangkau oleh masyarakat luas, maka harga layanan pita lebar ditargetkan paling tinggi sebesar 5% dari rata-rata pendapatan bulanan pada akhir tahun 2019. Rencana pita lebar dengan target minimal data rate tersebut tidak akan tercapai tanpa adanya perubahan teknologi. Teknologi yang mendukung terpenuhinya data rate tersebut antara lain teknologi 3.5G dan 4G LTE. Dalam rangka upgrade teknologi, perlu adanya biaya yang cukup besar yang dikeluarkan oleh operator. Biaya tersebut sangat mempengaruhi besar biaya yang akan dibebankan kepada pelanggan. Oleh karena itu dalam penelitian ini mengkaji seberapa besar biaya yang ditanggung pelanggan seluler setelah adanya teknologi baru. Penelitian ini bertujuan untuk mengetahui apakah biaya yang dibebankan kepada masyarakat sudah sesuai dengan yang ditetapkan oleh pemerintah dalam Rencana Pita Lebar Indonesia. Teknik peneltiian ini menggunakan pendekatan data kuantitatif yang dianalisis dengan ekonometrika. Hasil penelitian menunjukkan bahwa berdasarkan data penegeluarna telekomunikasi rumah tangga maupun data ARPU, biaya yang dibebankan kepada pelanggan sudah memenuhih persyaratan yang telah ditetapaka oleh rencana pita lebar Indonesia yaitu kurang dari 5%. *****One of the Indonesia Broadband Plan in 2014 – 2019 is that it can be provided mobile data reaching 52% rural areas with data rate up to 1 Mbps. In order to be affordable, so that maximum price is 5% of the average monthly income at the end of 2019. That data rate cannot be achieved without upgrading the technology. The technology of 3.5G and 4G are among others technology that can support high data rate. In order to upgrade technology, it needs a considerable cost from mobile operators, while it can influence the cost that will be charged to the customer. Therefore, this paper studied how much the cost for data users after adopt new technology. This study aimed to know whether social cost is appropriate to Indonesia Broadband Plan. This research used a quantitative approach with econometrics analysis. The result showed that based on data of Household Expenditure with Budget for Telecommunications and ARPU, the cost charged to the customer has been complied with Indonesia Broadband Plan is less than 5 %.
Period Variation Study and Light Curve Analysis of the Eclipsing Binary GSC 02013-00288
Authors: Awadalla N.S. , Hanna M.A. , Ismail M.N. , Hassan I.A. , Elkhamisy M.A. 
Published: August 2016

Abstract
We analyzed the first set of complete CCD light curves of the W UMa type eclipsing binary IK Boo in the BVRI bands by using the PHOEBE code and deduced its first photometric parameters with, mass ratio q = 0.648 and orbital inclination i = 63
o
. We have applied a spotted model due to the light curves asymmetry. The system shows a distinct O’Connell effect. The best solution fit to the light curves suggested the influence of star spot(s) on both components. Such presence of star spot(s) is common among the RS CVn and W UMa chromospheric active late type stars.
We also present an analysis of mid–eclipse time measurements of IK Boo. The analysis indicates a period decrease rate dP/dt = −1.68 × 10−7d/yr, which can be interpreted in terms of mass transfer of rate 3.1 × 10−7M⊙/yr, from the more massive to the less massive component.
THE AUTHOR’S COMMUNICATIVE INTENTION IN ECONOMIC MEDIA DISCOURSE
Authors: Gubik S. V. , Shakirov E. R. 
Published: August 2016

The paper deals with communicative intention which has no monosemantic interpretation in modern linguistic theories. An attempt is made to correlate the variety of approaches to communicative intention and find the common ground in order to define the notion borders and to reveal how certain features of the target audience influence the verbalization of intention within economic media discourse. The application of the intentional model by Potcheptsov is grounded. It singles out initial and final intentions each of which is divided into a speech-act intention and postspeech act intention according to time factor of its realization. This gives a successive overview of the intention exteriorization process. The texts of “Тhe Economist” are used as the basis to consider the peculiarities of economic media discourse. The author's communicative intention along with the addressee are seen as text formation factors. Special attention is given to the journal’s target group which is described as critically tuned information takers. Some arguments are given to support the assumption that strategic post speech-act intention of the economic text author is to convince the addressee to accept their viewpoint. Hence, the author's aim is to present their viewpoint as objective and unbiased by means of argumentation strategies. One possible criterion to create their semantic classification is the way of presenting information. The paper suggests a classification of argumentation strategies and offers some evaluation of popularity of different strategies with “Тhe Economist” authors.
YAKUTIA AS A PART OF THE KAMCHATKA DIOCESE (1856 – 1869): FEATURES OF CHURCH MANAGEMENT
Authors: Yurganova I. I. 
Published: August 2016

The paper addresses the Kamchatka period of the history of Orthodoxy in Yakutia (1856 – 1869) as one of the stages of activity of the Russian Orthodox Church on the edge of the Empire’s borders in the context of the state policy which included the tool for integration of the ethnic group of the region in the all-Russian social and economic structure in the course of intercivilization interaction. The civilization method of research was used.The role and importance of the activities of Archbishop Innokenty (Veniaminov) in changing the structures of the Russian Orthodox Church in Yakutia are defined, which contributed to the emergence of the Church’s administrative autonomy, with the establishment of the Vicariate and the reform of the Spiritual Board, and also the clergy of Yakutia with the opportunities for a number of benefits associated with specific features of living in the Far North: the payment of travel, the increased size of the salary, pension content outer payment etc. It was discovered that during the studied period the Kamchatka Bishop was granted the right to admit representatives of the local population in the clergy, which allowed to further solve the problem of staff shortages, which is topical for the Republic of Yakutia. It is revealed that being a part of the Kamchatka Diocese created the preconditions for the establishment of an independent Yakutsk and Vilyuysk Diocese.
Duration of serum antibody response to rabies vaccination in horses
Authors: Harvey Alison M. , Watson Johanna L. , Brault Stephanie A. , Edman Judy M. , Moore Susan M. , Kass Philip H. , Wilson W. David 
Published: August 2016

Abstract
OBJECTIVE To investigate the impact of age and inferred prior vaccination history on the persistence of vaccine-induced antibody against rabies in horses.
DESIGN Serologic response evaluation.
ANIMALS 48 horses with an undocumented vaccination history.
PROCEDURES Horses were vaccinated against rabies once. Blood samples were collected prior to vaccination, 3 to 7 weeks after vaccination, and at 6-month intervals for 2 to 3 years. Serum rabies virus–neutralizing antibody (RVNA) values were measured. An RVNA value of ≥ 0.5 U/mL was used to define a predicted protective immune response on the basis of World Health Organization recommendations for humans. Values were compared between horses < 20 and ≥ 20 years of age and between horses inferred to have been previously vaccinated and those inferred to be immunologically naïve.
RESULTS A protective RVNA value (≥ 0.5 U/mL) was maintained for 2 to 3 years in horses inferred to have been previously vaccinated on the basis of prevaccination RVNA values. No significant difference was evident in response to rabies vaccination or duration of protective RVNA values between horses < 20 and ≥ 20 years of age. Seven horses were poor responders to vaccination. Significant differences were identified between horses inferred to have been previously vaccinated and horses inferred to be naïve prior to the study.
CONCLUSIONS AND CLINICAL RELEVANCE A rabies vaccination interval > 1 year may be appropriate for previously vaccinated horses but not for horses vaccinated only once. Additional research is required to confirm this finding and characterize the optimal primary dose series for rabies vaccination.
Outcomes assessment of on-site communication skills education in a companion animal practice
Authors: Shaw Jane R. , Barley Gwyn E. , Broadfoot Kirsti , Hill Ashley E. , Roter Debra L. 
Published: August 2016

Abstract
OBJECTIVE To evaluate veterinarian-client communication and veterinarian and client satisfaction with veterinary visits before and after veterinarians underwent a 6-month communication skills training program in a practice setting.
DESIGN Case-based pretest-posttest intervention study.
SAMPLE 1 purposely selected companion-animal practice.
PROCEDURES The practice team (3 veterinarians, 5 veterinary technicians, 1 receptionist, and 1 office manager) participated in a 6-month educational program (intervention) that included interactive communication modules, individual coaching, and a communication laboratory. For each of the veterinarians, 6 appointments were video recorded and 30 additional clients completed a visit satisfaction survey both before and after the intervention. The Roter interaction analysis system was used to analyze the video-recorded appointments.
RESULTS After the intervention, appointments were 5.4 minutes longer and veterinarians asked 60% fewer closed-ended lifestyle-social questions, provided 1.4 times as much biomedically related client education, and used 1.5 and 1.25 times as much facilitative and emotional rapport communication, respectively, compared with before the intervention. Clients provided veterinarians with 1.3 times as much biomedically related information and engaged in twice as much social conversation. After the intervention, veterinarians perceived their clients as complaining less and being more personable and trusting, and clients felt more involved in the appointment and reported that the veterinarian expressed greater interest in their opinion.
CONCLUSIONS AND CLINICAL RELEVANCE Results indicated that the intervention resulted in veterinarians who spent more time educating and building rapport with their clients and facilitating client input in an unhurried environment, which enhanced overall veterinarian visit satisfaction and various aspects of client visit satisfaction.
Rotator Cuff Tear Consequent to Glenohumeral Dislocation
Authors: Gilotra Mohit N. , Christian Matthew W. , Lovering Richard M. 
Published: August 2016

The patient was a 21-year-old collegiate running back who was tackled during a football game and sustained a posterior glenohumeral dislocation. He was referred to an orthopaedist and presented 3 weeks after the injury, and, following examination, further imaging was ordered by the orthopaedist due to rotator cuff weakness. Magnetic resonance imaging showed a complete tear of the supraspinatus and infraspinatus, as well as a posterior Bankart lesion, a subscapularis tear, and a dislocation of the biceps long head tendon into the reverse Hill-Sachs lesion. J Orthop Sports Phys Ther 2016;46(8):708. doi:10.2519/jospt.2016.0413
Sport-Related Concussion: Optimizing Treatment Through Evidence-Informed Practice
Authors: Schneider Kathryn J. 
Published: August 2016

Concussion is one of the most common injuries in sport and recreation today. Reports of concussion have increased in recent years, likely due to increased societal awareness and the risk of longer-term sequelae. Presently, treatment includes a period of prescribed rest in the acute period following injury, followed by a protocol of graded exertion. Despite an initial period of rest and attempts at a gradual return to play, up to 30% of individuals may have ongoing symptoms past the acute period. The goal of this viewpoint is to introduce the reader to the most common symptoms of concussion and the need for a new, more active paradigm during treatment. J Orthop Sports Phys Ther 2016;46(8):613–616. doi:10.2519/jospt.2016.0607
Is Extracorporeal Shockwave Therapy Combined With Isokinetic Exercise More Effective Than Extracorporeal Shockwave Therapy Alone for Subacromial Impingement Syndrome? A Randomized Clinical Trial
Authors: Santamato Andrea , Panza Francesco , Notarnicola Angela , Cassatella Gennaro , Fortunato Francesca , de Sanctis Jula Laura , Valeno Giovanni , Kehoe Patrick G. , Seripa Davide , Logroscino Giancarlo , Fiore Pietro , Ranieri Maurizio 
Published: August 2016

Study Design Single-blind randomized trial. Background Extracorporeal shockwave therapy (ESWT) has been shown to produce good results in the treatment of subacromial impingement syndrome (SAIS). The efficacy of a combined administration of ESWT and isokinetic exercise (IE) has not yet been studied. Objectives To evaluate the efficacy of focused ESWT combined with IE for the rotator cuff versus focused ESWT alone in the treatment of SAIS. The secondary objective was to assess the isokinetic torque recovery (external rotation at 210°/s, 180°/s, and 120°/s). Methods Thirty participants with SAIS were randomly assigned to a focused-ESWT group or focused ESWT-plus-IE group. Subjects of both groups received 3 treatment sessions of focused ESWT over a period of 10 days. Participants in the second group also received IE for 10 therapy sessions. Outcome measures were the Constant-Murley score (CMS), the visual analog scale (VAS), and isokinetic parameters (peak torque and total work calculated from 5 repetitions) measured with the isokinetic test. Subjects were assessed at baseline, 10 days after the last treatment session with focused ESWT, and after 2 months of follow-up. Results At 2 months posttreatment, participants in the focused ESWT-plus-IE group showed significantly less pain (focused-ESWT VAS, 3.4 ± 0.8 versus focused ESWT-plus-IE VAS, 1.5 ± 0.5; P<.001) and greater improvement in functionality (focused-ESWT CMS, 75.9 ± 6.7 versus focused ESWT-plus-IE CMS, 92.1 ± 6.3; P<.001) and muscle endurance than the subjects in the focused-ESWT group. Conclusion In subjects with SAIS, combined administration of focused ESWT and IE for the rotator cuff resulted in greater reduction of pain, as well as superior functional recovery and muscle endurance in the short to medium term, compared with ESWT alone. Level of evidence Therapy, 2b. Trial registration: unregistered 2011 trial. J Orthop Sports Phys Ther 2016;46(9):714–725. Epub 5 Aug 2016. doi:10.2519/jospt.2016.4629
Clinical, surgical, and molecular prognostic factors for survival after spinal sarcoma resection
Authors: Sciubba Daniel M. , De la Garza Ramos Rafael , Rory Goodwin C. , Abu-Bonsrah Nancy , Bydon Ali , Witham Timothy F. , Bettegowda Chetan , Gokaslan Ziya L. , Wolinsky Jean-Paul 
Published: August 2016

OBJECTIVE
The goal of this study was to investigate the local recurrence rate and long-term survival after resection of spinal sarcomas.

METHODS
A retrospective review of patients who underwent resection of primary or metastatic spinal sarcomas between 1997 and 2015 was performed. Tumors were classified according to the Enneking classification, and resection was categorized as Enneking appropriate (EA) if the specimen margins matched the Enneking recommendation, and as Enneking inappropriate (EI) if they did not match the recommendation. The primary outcome measure for all tumors was overall survival; local recurrence was also an outcome measure for primary sarcomas. The association between clinical, surgical, and molecular (tumor biomarker) factors and outcomes was also investigated.

RESULTS
A total of 60 patients with spinal sarcoma were included in this study (28 men and 32 women; median age 38 years). There were 52 primary (86.7%) and 8 metastatic sarcomas (13.3%). Thirty-nine tumors (65.0%) were classified as high-grade, and resection was considered EA in 61.7% of all cases (n = 37). The local recurrence rate was 10 of 52 (19.2%) for primary sarcomas; 36.8% for EI resection and 9.1% for EA resection (p = 0.010). Twenty-eight patients (46.7%) died during the follow-up period, and median survival was 26 months. Overall median survival was longer for patients with EA resection (undefined) compared with EI resection (13 months, p < 0.001). After multivariate analysis, EA resection significantly decreased the hazard of local recurrence (HR 0.24, 95% CI 0.06–0.93; p = 0.039). Age 40 years or older (HR 4.23, 95% CI 1.73–10.31; p = 0.002), previous radiation (HR 3.44, 95% CI 1.37–8.63; p = 0.008), and high-grade sarcomas (HR 3.17, 95% CI 1.09–9.23; p = 0.034) were associated with a significantly increased hazard of death, whereas EA resection was associated with a significantly decreased hazard of death (HR 0.22, 95% CI 0.09–0.52; p = 0.001).

CONCLUSIONS
The findings in the present study suggest that EA resection may be the strongest independent prognostic factor for improved survival in patients with spinal sarcoma. Additionally, patients who underwent EA resection had lower local recurrence rates. Patients 40 years or older, those with a history of previous radiation, and those with high-grade tumors had an increased hazard of mortality in this study.