bluuebunny/crossref_metadata_2025_split huggingface dataset:
An exploration of novice genetic counselors’ transitional challenges: Commencement is just the beginning
Authors: Ramachandra Divya Baktha , McCarthy Veach Patricia , LeRoy Bonnie S. , Tryon Rebecca 
Published: May 2019

AbstractAlthough transitional challenges exist in many professions, no research has explicitly investigated challenges novice genetic counselors encounter as they enter the workforce. This qualitative study explored challenges genetic counselors face when transitioning from student to practicing counselor and their strategies for managing them. Fifteen novice genetic counselors (~1–2 years post‐degree experience), recruited via the National Society of Genetic Counselors, participated in semi‐structured phone interviews. Interview questions explored professional and personal challenges faced in their first 6 months, how challenges changed over time, strategies they used to manage these challenges, and resources they thought would have been helpful to have from the beginning. Inductive analysis of interview data yielded themes including: interpersonal challenges with colleagues (e.g. handling differences of opinion); intrapersonal challenges (e.g. lacking confidence, not feeling ready to ‘go solo’); patient care challenges (e.g. being viewed as young/inexperienced); and logistical challenges (e.g. billing). Personal challenges included moving to a new location, preparing for boards, establishing a work‐life balance, and factors associated with one's significant others. Strategies to address challenges included seeking support and guidance from experienced genetic counselors and peers, using peer supervision groups, and involvement in community activities. Participants recommended connecting with recent graduates through national and local programs to facilitate the transition from student to genetic counselor. Results suggest the ‘transition years’ pose a variety of professional and personal challenges. Support and guidance are key to evolving from student to practicing counselor. Creating venues to help novice counselors make connections with colleagues and other recent graduates may be beneficial.
Recontact practices of cancer genetic counselors and an exploration of professional, legal, and ethical duty
Authors: Mueller Amy , Dalton Emily , Enserro Danielle , Wang Catharine , Flynn Maureen 
Published: May 2019

AbstractThe duty to recontact continues to be revisited in the field of clinical genetics and is currently relevant for cancer genetic counseling given the transition from single‐gene to multi‐gene panel testing. We recruited cancer genetic counselors through the National Society of Genetic Counselors list‐serv to complete an online survey assessing current practices and perspectives regarding recontacting patients about diagnostic genetic tests. Forty‐one percent of respondents reported that they have recontacted patients to offer updated (new) diagnostic genetic testing (40/97). A majority (61%, 17/28), of genetic counselors who reported recontact specifically for panel testing indicated that the availability of management recommendations for genes not previously tested routinely was an important factor in the decision to recontact. All respondents who recontacted patients reported “improved patient care” as a perceived benefit. Respondents indicated that recontact is mostly a patient responsibility (49%), followed by a shared responsibility between the provider and patient (43%). Few respondents (2%) reported a uniform ethical duty to recontact patients regarding new and updated testing, while the majority (89%) felt that there was some degree of ethical duty. A greater percentage of those who reported past recontact practices reported intention to recontact in the future (p = 0.001). There is little consensus among the genetic counselor respondents about how to approach the recontacting of patients to offer updated genetic testing.
Genetic counseling job market in the United States and Canada: An analysis of job advertisements 2014–2016
Authors: Burns Kaitlyn , Swanson Amy , Hoskovec Jennifer , Leonhard Jennifer , Hahn Susan , Stein Quinn P. 
Published: May 2019

AbstractGenetic counseling careers continue to evolve, yet there remains a lack of information about hiring trends in the genetic counseling profession. In this study, job advertisements in the United States and Canada were analyzed, using the National Society of Genetic Counselors (NSGC) Job Connections and the American Board of Genetic Counseling (ABGC) eBlasts from 2014 to 2016 to appraise job roles, qualifications, settings, specialties, and type. NSGC had 1875 advertised openings from 2014 to 2016, while ABGC had 373 advertised openings. Jobs containing a “counseling” role increased as a percentage from 2014 to 2016 when advertised by NSGC (χ2 = 25.52, p < 0.000001) but decreased each year from 2014 to 2016 as a percentage when advertised through ABGC (χ2 = 14.29, p = 0.0008). In the ABGC job postings, it was noted that 36% of job postings were advertised for other specialties (not solely cancer, pediatric, or prenatal) in 2014, and increased to 67% in 2016 (χ2 = 10.09, p = 0.02). Examining the job specialties posted by ABGC and NSGC, several new or unique roles were found in the job advertisements such as ophthalmology counselor, variant curator, rare diseases information specialist, and clinical policy analyst. Roles for temporary, contract or fellowship positions are possibly becoming more common, along with small upturns in positions that are off‐site or remote. In analyzing the changing workforce, there was a statistically significant decrease identified in jobs advertised by NSGC in the laboratory setting from 28% in 2014 to 17% in 2016 (χ2 = 24.12, p = 0.000024). This information on the evolving career of genetic counseling is valuable for the current workforce and training programs as they adapt with the changing landscape of the profession.
Developing culturally informed genetic services for the Somali immigrants in Minnesota
Authors: Cheung Fook Yee , Pratt Rebekah , Shire Abdirashid , Bigalke Lauren , Ahmed Zahra , Zierhut Heather 
Published: May 2019

AbstractMisinformation and distrust often prevent individuals from minority communities to seek adequate healthcare, including genetic services. Immigrants appear to be further burdened by factors that negatively impact their health outcomes and little is known about their experience with genetic services. We sought to identify attitudes and perception of genetic services in one immigrant group, the Somali community of Minnesota and to establish a culturally informed framework for caring for members. A qualitative study comprised of 11 semi‐structured key informant interviews was conducted and analyzed using a thematic approach. Main themes emerged from the analysis fell within one of four major topics: (a) Somali views and perspective on genetics and healthcare, (b) barriers to uptake of genetic services, (c) facilitators to uptake of genetic services, and (d) perspective on genetic service delivery subtypes. Somali views and perspective on genetics are often framed by religious and cultural values. These values, at times, conflicted with those common in the American healthcare system. Supports for different genetic service delivery subtypes also varied, ranging from little to no support in prenatal screening to generally positive support for pharmacogenetic testing. Future studies should prioritize topics with support and ways to better provide genetic counseling services within the Somali community.
Comparative study of plant growth‐promoting bacteria on the physiology, growth and fruit quality of strawberry
Authors: Morais Maria C , Mucha Ângela , Ferreira Helena , Gonçalves Berta , Bacelar Eunice , Marques Guilhermina 
Published: May 2019

AbstractBACKGROUNDThe strawberry (Fragaria × ananassa Duch.) is, among small fruits, the most cultivated and commercialized in Portugal. Recent studies have evidenced the positive effect of plant growth‐promoting bacteria (PGPB) inoculation on strawberry production and, at the same time, provided an alternative strategy to reduce the use of fertilizers. In this study the effects of root inoculation with three PGPB strains (Pedobacter sp. CC1, Bacillus safensis B106 and Bacillus subtilis B167A) on the physiology, growth, fruit production and quality of strawberry cv. Camarosa are presented.RESULTSPGPB inoculation significantly accelerated crop maturation, with inoculated plants fruiting about 2 weeks earlier than non‐inoculated plants. Inoculated plants with Pedobacter sp. CC1 and Bacillus safensis B106 influenced the gas exchange parameters of strawberry plants. The contents of total phenolics and flavonoids in strawberry leaves were found to be greater with Pedobacter sp. CC1, when compared with non‐inoculated plants. Furthermore, plants inoculated with the same bacterial strain showed enhancement in the dimensions of fruits, especially fruit length, and shape as well as in the total soluble solids content (°Brix).CONCLUSIONSThe results showed that the PGPB Pedobacter sp. CC1 improved performance of strawberry plants, suggesting that it could be a potential biofertilizer for strawberry plant nutrition. © 2019 Society of Chemical Industry
Pepper fragrant essential oil (PFEO) and functionalized MCM‐41 nanoparticles: formation, characterization, and bactericidal activity
Authors: Jin Li , Teng Jing , Hu Linghao , Lan Xiuting , Xu Yue , Sheng Jie , Song Yishan , Wang Mingfu 
Published: May 2019

AbstractBACKGROUNDIt is well known that plant essential oils have good antimicrobial activity. However, their strong volatility and intense odor limit their application. Mesoporous silica (MCM‐41), a non‐toxic mesoporous material with excellent loading capability, is a promising delivery system for different types of food ingredients in the food industry.RESULTSIn this study, we first performed component analysis of pepper fragrant essential oil (PFEO) by gas chromatography – mass spectrometry (GC–MS), then the MCM‐41 host was prepared, and the essential oil functionalized nanoparticles (EONs) were formed by embedding PFEO into mesoporous silica particles. Further analysis indicated that the particle size and zeta potential of EONs were 717 ± 13.38 nm and − 43.90 ± 0.67 mV, respectively. Transmission electron microscopy (TEM) images showed that EONs had an inerratic morphology and stable structure. The bactericidal activities of PFEO and EONs against Escherichia coli (E. coli), Salmonella enterica (S. enterica), Staphylococcus aureus (S. aureus) and Listeria monocytogenes (L. monocytogenes) were subsequently tested using the twofold dilution method. Results indicated that, after 48 h incubation, minimum bactericidal concentrations (MBC) of EONs used against gram‐negative bacteria were decreased to a greater degree than those of PFEO, suggesting that nanoencapsulation by MCM‐41 can improve antimicrobial activity. Atomic force microscopy (AFM) observation also confirmed that EONs showed a notable inhibitory effect against E. coli by disrupting cell membrane structure.CONCLUSIONPepper fragrant essential oil nanoencapsulation could be a very promising organic delivery system in food industry for antimicrobial activity enhancement. © 2019 Society of Chemical Industry
Industry Payments for Otolaryngology Research: A Four‐Year Analysis of the Open Payments Database
Authors: Brauer Philip R. , Morse Elliot , Mehra Saral 
Published: May 2019

ObjectiveTo characterize industry research payments to otolaryngologists.Study DesignCross‐sectional retrospective analysis.MethodsWe examined research payments made to otolaryngologists 2014 through 2017 included in the Open Payments Database. Trends in payment values over time were characterized and compared to other surgical specialties. Geographical and temporal trends in payments to specific principal investigators, along with the ties to specific companies, were analyzed.ResultsAmong surgical specialties, otolaryngology was the second lowest paid in terms of total compensation from industry for research per active U.S. physician. The median (mean) payment to otolaryngologists was $819 ($5,514), $548 ($3,083), $771 ($3,484), and $1,000 ($5,768) in 2014, 2015, 2016, and 2017, respectively. There was typically a higher mean and median payment per otolaryngologists in the Northeast, although significant differences between each region varied by year. The 40 most highly funded recipients had total compensation that was on average spread over 3.35 years of the database, 2.975 different companies, and 7.35 distinct scientific studies—all significantly higher compared to otolaryngologists with less funding.ConclusionResearch payments to otolaryngologists are concentrated in a small number of otolaryngologists; however, many of the most highly funded principal investigators worked on numerous studies with a variety of different companies over many years. Our characterization of the Open Payments Database over 4 years illustrates the depth of relationship between otolaryngology research and industry as well as raises awareness regarding the ease of connecting otolaryngologists to research payments.Level of EvidenceNA Laryngoscope, 130:314–320, 2020
Variation in dissolved organic matter (DOM) stoichiometry in U.K. freshwaters: Assessing the influence of land cover and soil C:N ratio on DOM composition
Authors: Yates Christopher A. , Johnes Penny J. , Owen Alun T. , Brailsford Francesca L. , Glanville Helen C. , Evans Christopher D. , Marshall Miles R. , Jones David L. , Lloyd Charlotte E. M. , Jickells Tim , Evershed Richard P. 
Published: May 2019

AbstractDissolved organic matter (DOM) plays an important role in freshwater biogeochemistry. To investigate the influence of catchment character on the quality and quantity of DOM in freshwaters, 45 sampling sites draining subcatchments of contrasting soil type, hydrology, and land cover within one large upland‐dominated and one large lowland‐dominated catchment were sampled over a 1‐yr period. Dominant land cover in each subcatchment included: arable and horticultural, blanket peatland, coniferous woodland, and improved, unimproved, acid, and calcareous grasslands. The composition of the C, N, and P pool was determined as a function of the inorganic nutrient species (NO3−, NO2−, NH4+, and PO43−) and dissolved organic nutrient (dissolved organic carbon [DOC], dissolved organic nitrogen [DON], and dissolved organic phosphorus [DOP]) concentrations. DOM quality was assessed by calculation of the molar DOC : DON and DOC : DOP ratios and specific ultraviolet absorbance (SUVA254). In catchments with little anthropogenic nutrient inputs, DON and DOP typically composed > 80% of the total dissolved nitrogen (TDN) and total dissolved phosphorus (TDP) concentrations. By contrast, in heavily impacted agricultural catchments DON and DOP typically comprised 5–15% of TDN and 10–25% of TDP concentrations. Significant differences in DOC : DON and DOC : DOP ratios were observed between land cover class with significant correlations observed between both the DOC : DON and DOC : DOP molar ratios and SUVA254 (rs = 0.88 and 0.84, respectively). Analysis also demonstrated a significant correlation between soil C : N ratio and instream DOC : DON/DOP (rs = 0.79 and 0.71, respectively). We infer from this that soil properties, specifically the C : N ratio of the soil organic matter pool, has a significant influence on the composition of DOM in streams draining through these landscapes.
A glimpse of the prokaryotic diversity of the Large Aral Sea reveals novel extremophilic bacterial and archaeal groups
Authors: Shurigin Vyacheslav , Hakobyan Anna , Panosyan Hovik , Egamberdieva Dilfuza , Davranov Kakhramon , Birkeland Nils‐Kåre 
Published: May 2019

AbstractDuring the last five decades, the Aral Sea has gradually changed from a saline water body to a hypersaline lake. Microbial community inhabiting the Aral Sea has been through a succession and continuous adaptation during the last 50 years of increasing salinization, but so far, the microbial diversity has not been explored. Prokaryotic diversity of the Large Aral Sea using cultivation‐independent methods based on determination of environmental 16S rRNA gene sequences revealed a microbial community related to typical marine or (hyper) saline‐adapted Bacteria and Archaea. The archaeal sequences were phylogenetically affiliated with the order Halobacteriales, with a large number of operational taxonomic units constituting a novel cluster in the Haloferacaceae family. Bacterial community analysis indicated a higher diversity with representatives belonging to Proteobacteria, Actinobacteria and Bacteroidetes. Many members of Alphaproteobacteria and Gammaproteobacteria were affiliated with genera like Roseovarius, Idiomarina and Spiribacter which have previously been found in marine or hypersaline waters. The majority of the phylotypes was most closely related to uncultivated organisms and shared less than 97% identity with their closest match in GenBank, indicating a unique community structure in the Large Aral Sea with mostly novel species or genera.
Cost‐Effectiveness of Deep Brain Stimulation With Movement Disorders: A Systematic Review
Authors: Dang Tho Thi Hai , Rowell David , Connelly Luke B. 
Published: May 2019

AbstractBackgroundMovement disorders (MDs) are increasingly being managed with deep brain stimulation (DBS). High‐quality economic evaluations (EEs) are necessary to evaluate the cost‐effectiveness of DBS. We conducted a systematic review of published EEs of the treatment of MDs with DBS. The review compares and contrasts the reported incremental cost‐effectiveness ratios (ICERs) and methodology employed by trial‐based evaluations (TBEs) and model‐based evaluations (MBEs).MethodsMeSH and search terms relevant to “MDs,” “DBS,” and “EEs” were used to search biomedical and economics databases. Studies that used a comparative design to evaluate DBS, including before‐after studies, were included. Quality and reporting assessments were conducted independently by 2 authors. Seventeen studies that targeted Parkinson's disease (PD), dystonia, and essential tremor (ET), met our selection criteria.ResultsMean scores for methodological and reporting quality were 73% and 76%, respectively. The ICERs for DBS compared with best medical therapy to treat PD patients obtained from MBEs had a lower mean and range compared with those obtained from TBEs ($55,461–$735,192 per quality‐adjusted life‐year [QALY] vs. $9,301–$65,111 per QALY). Pre‐post ICER for DBS to treat dystonia was $64,742 per QALY. DBS was not cost‐effective in treating ET compared with focused‐ultrasound surgery. Cost‐effectiveness outcomes were sensitive to assumptions in health utilities, surgical costs, battery life‐span, model time horizons, and the discount rate.ConclusionsThe infrequent use of randomized, controlled trials to evaluate DBS efficacy, the paucity of data reporting the long‐term effectiveness and/or utility of DBS, and the uncertainty surrounding cost data limit our ability to report cost‐effectiveness summaries that are robust.
Genome‐wide survey of copy number variants finds MAPT duplications in progressive supranuclear palsy
Authors: Chen Zhongbo , Chen Jason A. , Shatunov Aleksey , Jones Ashley R. , Kravitz Stephanie N. , Huang Alden Y. , Lawrence Lauren , Lowe Jennifer K. , Lewis Cathryn M. , Payan Christine A. M. , Lieb Wolfgang , Franke Andre , Deloukas Panagiotis , Amouyel Philippe , Tzourio Christophe , Dartigues Jean‐François ,   NNIPPS and BBBIPPS Study Groups, Ludolph Albert , Bensimon Gilbert , Leigh P. Nigel , Bronstein Jeff M. , Coppola Giovanni , Geschwind Daniel H. , Al‐Chalabi Ammar 
Published: May 2019

AbstractBackgroundProgressive supranuclear palsy is a neurodegenerative tauopathy manifesting clinically as a progressive akinetic‐rigid syndrome. In this study, we sought to identify genetic variants influencing PSP susceptibility through a genome‐wide association analysis of a cohort of well‐characterized patients who had participated in the Neuroprotection and Natural History in Parkinson Plus Syndromes and Blood Brain Barrier in Parkinson Plus Syndromes studies.MethodsWe genotyped single‐nucleotide polymorphisms in 283 PSP cases from the United Kingdom, Germany, and France and compared these with genotypes from 4472 controls. Copy number variants were identified from genotyping data.ResultsWe observed associations on chromosome 17 within or close to the MAPT gene and explored the genetic architecture at this locus. We confirmed the previously reported association of rs1768208 in the MOBP gene (P = 3.29 × 10‐13) and rs1411478 in STX6 (P = 3.45 × 10‐10). The population‐attributable risk from the MAPT, MOBP, and STX6 single‐nucleotide polymorphisms was found to be 0.37, 0.26, and 0.08, respectively. In addition, we found 2 instances of copy number variants spanning the MAPT gene in patients with PSP. These copy number variants include tau but few other genes within the chromosome 17 haplotype region, providing additional support for the direct pathogenicity of MAPT in PSP.ConclusionsClinicians should also be aware of MAPT duplication as a possible genetic cause of PSP, especially in patients presenting with young age at onset. © 2019 International Parkinson and Movement Disorder Society
Diverse phenotypes in children with PAX2‐related disorder
Authors: Deng Haiyue , Zhang Yanqin , Xiao Huijie , Yao Yong , Liu Xiaoyu , Su Baige , Zhang Hongwen , Xu Ke , Wang Suxia , Wang Fang , Ding Jie 
Published: May 2019

AbstractBackgroundThe aim of this study was to analyze the diverse phenotypes of children with PAX2‐related disorder so as to improve our understanding of this disease.MethodsThe clinical data of ten children with PAX2 mutations, detected by targeted region capture sequencing or whole‐exome sequencing, were retrospectively analyzed. Family members of index cases were verified by Sanger sequencing and family segregation analysis was performed.ResultsThe age of first symptom of 10 unrelated children (six girls and four boys) was 6.4 (ranged from postnatal day to 14.8) years old. Proteinuria, abnormal renal function, and structure were found in all patients. Renal hypoplasia and renal cysts were found in 10 of 10 and five of 10 cases, respectively. Three patients progressed to chronic kidney disease stage 5 and the onset age of end‐stage renal disease was 9.8–16.4 years old. PAX2‐related ocular abnormalities were found in five of seven cases and three patients were observed to have more than one ocular findings involved. In addition to diverse renal and ocular findings, new phenotypes including congenital ventricular septal defect, skeletal deformity (fourth metatarsal microsomia), ovarian teratoma, and relatively rare extrarenal manifestations such as growth retardation, gout, and microcephaly were also found. Three novel mutations were reported for the first time. De novo mutations occurred in all patients who were carried out segregation analysis. Patients with the same mutation had different manifestations. PAX2‐related disorder showed remarkable clinical variability and phenotypic heterogeneity.ConclusionWe firstly reported skeletal deformity (fourth metatarsal microsomia), ovarian teratoma, and congenital ventricular septal defect as new phenotypes of PAX2‐related disorder which enlarged the phenotypic spectrum. Gout was firstly reported as the onset symptom of PAX2‐related disorder. The diagnosis of PAX2‐related disorder should be considered without family history due to a much higher percentage of De novo mutations.