bluuebunny/crossref_metadata_2025_split huggingface dataset:
Congenital Calvarial Hemangioma
Authors: Brichacek Michal , Naeem Abdul , Filler Guido , Hammond Robert , Yazdani Arjang , Ranger Adrianna 
Published: May 2018

Objectives:
The authors describe a case of congenital calvarial hemangioma successfully managed using propranolol therapy. Presenting symptoms, radiological and pathological features, differential diagnosis, and management of this rare congenital mass are described.

Case Presentation:
A 2-year-old boy presented with a 1-year history of a growing right parietal skull mass. No obvious etiology was apparent. No focal neurological deficits or associated craniofacial anomalies were identified. Plain film imaging demonstrated focal thickening of the right parietal bone with internal trabeculations in a sunburst appearance. Computed tomography (CT) scan showed bone thickening with coarsening of the bony trabeculae, minor irregularity of the outer table, unaffected inner table, and no evidence of aggressive features. A diagnostic biopsy of the lesion was performed in the operating room. Microscopic examination was consistent with hemangioma. Based on histological and radiological features of the lesion, it was identified as a cavernous hemangioma. Medical treatment utilizing propranolol was initiated for over 3 years with interval reduction in the lesion size. MRI head following treatment with propranolol demonstrated reduction of the mass compared to preoperative imaging.

Conclusions:
Although a rare entity, it is important to consider congenital calvarial hemangioma in the differential diagnosis of slow growing skull lesions due to the possibility of complications as a result of the hemangioma's intracranial extension, and the potential for treatment. En bloc resection has classically been described as a treatment for such lesions, although our case demonstrates that medical treatment with propranolol therapy may be appropriate in certain situations.
Delayed Reduction of Zygomatic Arch Fracture: Effectiveness of the Rowe Zygoma Elevator
Authors: Kim Jinwoo , Hwang Woosuk 
Published: May 2018

Abstract
The zygomaticomaxillary complex fractures are common fractures among the all facial fractures, and the zygomatic arch fracture accounts for approximately 10% of all facial fractures. Various routes (Gillies app, Direct cutaneous app, Bicoronal, intraoral) and devices (Foley's ballon catheter, Rowe zygoma elevator, Langenbach, deschamps needle holder, Bone hook) for a surgical intervention of the zygomatic arch have been introduced. However, no study exists that has described an effective method of surgery for zygomatic arch fractures that have been left untreated for a long period, or for unstable reduction that have not been reduced >1 month after surgery. The authors describe the case of a 53-year-old female patient who was diagnosed an unstable reduction of the zygomatic arch, 6 weeks after undergone open reduction and internal fixation for a zygomaticomaxillary complex fracture. The authors had successful outcome for delayed reduction of a zygomatic arch fracture using a Rowe zygoma elevator. And the authors suggest that the Rowe zygoma elevator is an easy and effective method for delayed reduction of a zygomatic arch fracture.
Assessment of a Dedicated Transplant Low Clearance Clinic and Patient Outcomes on Dialysis After Renal Allograft Loss at 2 UK Transplant Centers
Authors: Evans Rhys D.R. , Bekele Soliana , Campbell Samantha M. , Clark Sarah G. , Harris Lauren , Thomas Alice , Jones Gareth L. , Thuraisingham Raj 
Published: May 2018

Background
Low clearance transplant clinics (LCTCs) are recommended for the management of recipients with a failing kidney transplant (RFKT) but data to support their use is limited. We conducted a retrospective study to assess management of RFKT at 2 transplant centers, 1 with a LCTC (center A) and 1 without (center B).

Methods
Patients who transitioned to an alternative form of renal replacement therapy (RRT) between January 1, 2012, and November 30, 2016, were included. Patients with graft failure within a year of transplantation or due to an unpredictable acute event were excluded. Clinical data were collected after review of medical records.

Results
One hundred seventy-nine patients (age, 48.6 ± 13.4 years, 99 [55.3%] male, and mean transplant duration 10.3 ± 7.8 years) were included. RRT counseling occurred in 79 (91%) and 68 (74%) patients at centers A and B (P = 0.003), at median 135 (61-319) and 133 (69-260) days before dialysis after graft loss (P = 0.92). Sixty-one (34.1%) patients were waitlisted for retransplantation; 18 (32.7%) nonwaitlisted patients were still undergoing workup at center A compared with 37 (58.7%) at center B (P = 0.028). Preemptive retransplantation occurred in 4 (4.6%) and 5 (5.4%) patients at centers A and B (P = 0.35). At 1 year after initiation of dialysis after graft loss, 11 (15.3%) and 11 (17.2%) patients were retransplanted (P = 0.12), and mortality was 6.6% overall.

Conclusions
A dedicated LCTC improved RRT counseling and transplant work-up but did not lead to improved rates of retransplantation. Earlier consideration of retransplantation in LCTCs is required to improve RFKT outcomes.
More Than Meets the Eye: The Eye and Migraine—What You Need to Know
Authors: Digre Kathleen B. 
Published: May 2018

Abstract:
Migraine has long been associated with disturbances of vision, especially migraine with aura. However, the eye plays an important role in sensory processing as well. We have found that the visual quality of life is reduced in migraine. In this review, we discuss how the migraine and eye pain pathways are similar and affect many of the common complaints which are seen in ophthalmology and neuro-ophthalmology offices, such as dry eye and postoperative eye pain. We also review other related phenomena, including visual snow and photophobia, which also are related to altered sensory processing in migraine.
Recommendations for Interpreting the Loss of Function PVS1 ACMG/AMP Variant Criteria
Authors: Abou Tayoun Ahmad N. , Pesaran Tina , DiStefano Marina T. , Oza Andrea , Rehm Heidi L. , Biesecker Leslie G. , Harrison Steven M. ,   on behalf of the ClinGen Sequence Variant Interpretation Working Group
Published: May 2018

ABSTRACTThe 2015 ACMG/AMP sequence variant interpretation guideline provided a framework for classifying variants based on several benign and pathogenic evidence criteria. This guideline includes a pathogenic criterion (PVS1) for predicted loss of function variants. However, the guideline did not elaborate on the specific considerations for the different types of loss of function variants, nor did it provide decision-making pathways assimilating information about the variant type, its location within the gene, or any additional evidence for the likelihood of a true null effect. Furthermore, the ACMG/AMP guideline did not take into account the relative strengths for each evidence type and the final outcome of their combinations with respect to PVS1 strength. Finally, criteria specifying the genes for which PVS1 can be used are still missing. Here, as part of the Clinical Genomic Resource (ClinGen) Sequence Variant Interpretation (SVI) Working Group’s goal of refining ACMG/AMP criteria, we provide recommendations for applying the PVS1 rule using detailed guidance addressing all the above-mentioned gaps. We evaluate the performance of the refined rule using heterogeneous types of loss of function variants (n = 56) curated by seven disease-specific groups across ten genes. Our recommendations will facilitate consistent and accurate interpretation of predicted loss of function variants.GRANT NUMBERSResearch reported in this publication was supported by the National Human Genome Research Institute (NHGRI) under award number U41HG006834. LGB was supported by the Intramural Research Program of the NHGRI grant number HG200359 09.
Isavuconazole therapeutic drug monitoring associated to a pharmacogenetic exploration is far from being a pharmacologists’ whim
Authors: Darnaud L , Lamoureux F , Godet C , Pontier S , Debard A , Venisse N , Martins P , Concordet D , Gandia P 
Published: May 2018

ABSTRACTIsavuconazole is a new antifungal prodrug to treat invasive aspergillosis and mucormycosis, theoretically not requiring drug monitoring. However, we reported 4 clinical cases with toxic concentrations. Based on Desai’s population pharmacokinetic model, we estimated patients’ kinetic profile. Clearance was abnormally low, likely related to CYP3A4/5 polymorphisms. Thus, we recommend to collect blood sample just before the first maintenance dose to estimate pharmacokinetic profile and individualized dose. For patients presenting high concentrations, pharmacogenetics can be done.
The Clinical Imperative for Inclusivity: Race, Ethnicity, and Ancestry (REA) in Genomics
Authors: Popejoy A.B. , Ritter D.I. , Crooks K. , Currey E. , Fullerton S.M. , Hindorff L.A. , Koenig B. , Ramos E.M. , Sorokin E.P. , Wand H. , Wright M.W. , Zou J. , Gignoux C.R. , Bonham V.L. , Plon S.E. , Bustamante C.D. ,   The Clinical Genome Resource (ClinGen) Ancestry and Diversity Working Group (ADWG)
Published: May 2018

AbstractThe Clinical Genome Resource (ClinGen) Ancestry and Diversity Working Group highlights the need to develop guidance on race, ethnicity, and ancestry (REA) data collection and use in clinical genomics. We present quantitative and qualitative evidence to characterize: 1) acquisition of REA data via clinical laboratory requisition forms, and 2) information disparity across populations in the Genome Aggregation Database (gnomAD) at clinically relevant sites as determined by variants in ClinVar. Our requisition form analysis showed substantial heterogeneity in clinical laboratory ascertainment of REA, as well as marked incongruity among terms used to define REA categories. There was also striking disparity across REA populations in the amount of information available about variants at clinically relevant sites in gnomAD. European ancestral populations constituted the majority of observations (55.8%), allele counts (59.7%), and private alleles (56.1%) in gnomAD at 550 loci with “pathogenic” and “likely pathogenic” expert-reviewed variants in ClinVar. Our findings highlight the importance of implementing and supporting programs to increase diversity in genome sequencing and clinical genomics, as well as measuring uncertainty around population-level datasets that are used in variant interpretation. Finally, we suggest the need for a standardized REA data collection framework to be developed and adopted across clinical genomics.
The Genetic Insulator RiboJ Increases Expression of Insulated Genes
Authors: Clifton Kalen P , Jones Ethan M , Paudel Sudip , Marken John P , Monette Callan E , Halleran Andrew D , Epp Lidia , Saha Margaret S 
Published: May 2018

AbstractThe self-cleaving ribozyme RiboJ is an insulator commonly used in genetic circuits to prevent unexpected interactions between neighboring parts. These interactions can compromise the modularity of the circuit, impeding the implementation of predictable genetic constructs. Despite its utility as an insulator, a quantitative assessment of the effect of RiboJ on the properties of downstream genetic parts is lacking. Here, we characterized the impact of insulation with RiboJ on expression of a reporter gene driven by a promoter from a library of 24 frequently employed constitutive promoters. We show that depending on the strength of the promoters, insulation with RiboJ increased protein abundance between twofold and tenfold and increased transcript abundance by an average of twofold. This result is the first to demonstrate that genetic insulators can impact the expression of downstream genes, potentially hindering the design of predictable genetic circuits and constructs.
TMEM106B, a risk factor for FTLD and aging, has an intrinsically disordered cytoplasmic domain
Authors: Kang Jian , Lim Liangzhong , Song Jianxing 
Published: May 2018

AbstractTMEM106B was initially identified as a risk factor for FTLD, but recent studies highlighted its general role in neurodegenerative diseases. Very recently TMEM106B has also been characterized to regulate aging phenotypes. TMEM106B is a 274-residue lysosomal protein whose cytoplasmic domain functions in the endosomal/autophagy pathway by dynamically and transiently interacting with diverse categories of proteins but the underlying structural basis remains completely unknown. Here we conducted bioinformatics analysis and biophysical characterization by CD and NMR spectroscopy, and obtained results reveal that the TMEM106B cytoplasmic domain is intrinsically disordered with no well-defined three-dimensional structure. Nevertheless, detailed analysis of various multi-dimensional NMR spectra allowed defining residue-specific conformations and dynamics. Overall, the TMEM106B cytoplasmic domain is lacking of any tight tertiary packing and relatively flexible. However, several segments are populated with dynamic/nascent secondary structures and have relatively restricted backbone motions. In particular, the fragment Ser12-Met36 is highly populated with α- helix conformation. Our study thus decodes that being intrinsically disordered allows the TMEM106B cytoplasmic domain to dynamically and transiently interact with a variety of distinct partners.
dACC Response to Presentation of Negative Feedback Identifies Stimulant Dependence Diagnoses and Stimulant Use Severity
Authors: Claus Eric D. , Shane Matthew S. 
Published: May 2018

AbstractError-monitoring abnormalities in stimulant-dependent individuals (SDIs) may be due to reduced awareness of committed errors, or to reduced sensitivity upon such awareness. The distinction between these alternatives remains largely undifferentiated, but may have substantial clinical relevance. We sought to better characterize the nature, and clinical relevance, of SDIs’ error-monitoring processes by comparing carefully isolated neural responses during the presentation of negative feedback to a) stimulant dependence status and b) lifetime stimulant use. Forty-eight SDIs and twenty-three non-SDIs performed an fMRI-based time-estimation task specifically designed to isolate neural responses associated with the presentation (versus expectation) of contingent negative feedback. SDIs showed reduced dACC response compared to non-SDIs following the presentation of negative feedback, but only when error expectancies were controlled. Moreover, lifetime stimulant use correlated negatively with magnitude of dACC attenuation. While this findings was minimized after controlling for age, these results suggest that SDIs may be characterized by a core reduction in neural activity following error feedback, in the context of intact feedback expectancies. Correlations with lifetime stimulant use suggest that this neural attenuation may hold clinical significance.
Electrostatic repulsion causes anticooperative DNA binding between tumor suppressor ETS transcription factors and JUN-FOS at composite DNA sites
Authors: Madison Bethany J. , Clark Kathleen A. , Bhachech Niraja , Hollenhorst Peter C. , Graves Barbara J. , Currie Simon L. 
Published: May 2018

AbstractMany transcription factors regulate gene expression in a combinatorial fashion often by binding in close proximity on composite cis-regulatory DNA elements. Here we investigate the molecular basis by which ETS transcription factors bind with AP1 transcription factors JUN-FOS at composite DNA-binding sites. The ability to bind to DNA with JUN-FOS correlates with the phenotype of these proteins in prostate cancer: the oncogenic ERG and ETV1/4/5 subfamilies co-occupy ETS-AP1 sites with JUN-FOS in vitro, whereas JUN-FOS robustly inhibits DNA binding by the tumor suppressors EHF and SPDEF. EHF binds to ETS-AP1 DNA with tighter affinity than ERG in the absence of JUN-FOS, which may enable EHF to compete with ERG and JUN-FOS for binding to ETS-AP1 sites. Genome-wide mapping of EHF and ERG binding sites in a prostate epithelial cell line reveal that EHF is preferentially excluded from closely spaced ETS-AP1 DNA sequences. Structural modeling and mutational analyses indicate that adjacent positively-charged surfaces from EHF and JUN-FOS disfavor simultaneous DNA binding due to electrostatic repulsion. The conservation of positively charged residues on the JUN-FOS interface identified ELF1 as an additional ETS factor that exhibits anticooperative DNA binding, and we present evidence that ELF1 is frequently downregulated in prostate cancer. In summary, the divergence of electrostatic features of ETS factors at their JUN-FOS interface enables distinct binding events at ETS-AP1 DNA sequences. We propose that this mechanism can drive unique targeting of ETS transcription factors, thereby facilitating distinct transcriptional programs.
Sensitive detection of LiveEscherichia coliby bacteriophage amplification-coupled immunoassay on the Luminex®MAGPIX instrument
Authors: Mido Tomotaka , Schaffer Eric M. , Dorsey Robert W. , Sozhamannan Shanmuga , Hofmann E. Randal 
Published: May 2018

AbstractPhages are natural predators of bacteria and have been exploited in bacterial detection because of their exquisite specificity to their cognate bacterial hosts. In this study, we present a bacteriophage amplification-coupled assay as a surrogate for detecting a bacterium present in a sample. The assay entails detection of progeny phage resulting from infection and subsequent growth inside the bacterium present in suspected samples. This approach reduces testing time and enhances sensitivity to identify pathogens compared to traditional overnight plaque assay. Further, the assay has the ability to discriminate between live and dead cells since phages require live host cells to infect and replicate. To demonstrate its utility, phage MS2 amplification-coupled, bead-based sandwich type immunoassay on the Luminex®MAGPIX instrument forEscherichia colidetection was performed. The assay not only showed live cell discrimination ability but also a limit ofE. colidetection of 1×102cells/mL of live cells after a 3-hour incubation. In addition, the sensitivity of the assay was not impaired in the presence of dead cells. These results demonstrate that bacteriophage amplification-coupled assay can be a rapid live cell detection assay compared to traditional culture methods and a promising tool for quick validation of bacterial inactivation. Combined with the unique multiplex bead chemistry afforded by Luminex®MAGPIX platform, the phage assay can be expanded to be an ultra-deep multiplex assay for the simultaneous detection of multiple pathogens using specific phages directed against the target pathogens.
Enhancing the translational capacity ofE. coliby resolving the codon bias
Authors: Lipinszki Zoltan , Vernyik Viktor , Farago Nora , Sari Tobias , Puskas Laszlo G. , Blattner Frederick R. , Posfai Gyorgy , Gyorfy Zsuzsanna 
Published: May 2018

AbstractEscherichia coliis a well-established, and popular host for heterologous expression of proteins. The preference in the choice of synonymous codons (codon bias), however, might differ for the host and the original source of the recombinant protein, constituting a potential bottleneck in production. Codon choice affects the efficiency of translation by a complex and poorly understood mechanism. The availability of certain tRNA species is one of the factors that may curtail the capacity of translation.Here we provide a tRNA-overexpressing strategy that allows the resolution of the codon bias, and boosts the translational capacity of the popular host BL21(DE3) when rare codons are encountered. In BL21(DE3)-derived strain, called SixPack, copies of the genes corresponding to the six least abundant tRNA species have been assembled in a synthetic fragment and inserted into a ribosomal RNA operon. This arrangement, while not interfering with the growth properties of the new strain, allows dynamic control of the transcription of the extra tRNA genes, providing significantly elevated levels of the rare tRNAs in exponential growth phase.Results from expression assays of a panel of heterologous proteins of diverse origin and codon composition showed that the performance of SixPack surpassed that of the parental BL21(DE3) or a related strain equipped with a rare tRNA-expressing plasmid.ImportanceCodon composition not fitting the codon bias of the expression host frequently compromises the efficient production of foreign proteins inE. coli. Various attempts to remedy the problem (codon optimization by gene synthesis, expression of rare tRNAs from a plasmid) proved to be unsatisfying. Our new approach, adjusting the tRNA pool by co-expressing extra copies of rare tRNA genes with ribosomal RNA genes, does not affect normal cell physiology, and seems to be a superior solution in terms of simplicity, cost, and yield.
Overexpression of the vascular brassinosteroid receptor BRL3 confers drought resistance without penalizing plant growth
Authors: Fàbregas Norma , Lozano-Elena Fidel , Blasco-Escámez David , Tohge Takayuki , Martínez-Andújar Cristina , Albacete Alfonso , Osorio Sonia , Bustamante Mariana , Riechmann José Luis , Nomura Takahito , Yokota Takao , Conesa Ana , Alfocea Francisco Pérez , Fernie Alisdair R. , Caño-Delgado Ana I. 
Published: May 2018

ABSTRACTDrought represents a major threat to food security. Mechanistic data describing plant responses to drought have been studied extensively and genes conferring drought resistance have been introduced into crop plants. However, plants with enhanced drought resistance usually display lower growth, highlighting the need for strategies to uncouple drought resistance from growth. Here, we show that overexpression of BRL3, a vascular-enriched member of the brassinosteroid receptor family, can confer drought stress tolerance in Arabidopsis. Whereas loss-of-function mutations in the ubiquitously expressed BRI1 receptor leads to drought resistance at the expense of growth, overexpression of BRL3 receptor confers drought tolerance without penalizing overall growth. Systematic analyses reveal that upon drought stress, increased BRL3 triggers the accumulation of osmoprotectant metabolites including proline and sugars. Transcriptomic analysis suggests that this results from differential expression of genes in the vascular tissues. Altogether, this data suggests that manipulating BRL3 expression could be used to engineer drought tolerant crops.
The Dance of the Interneurons: How Inhibition Facilitates Fast Compressible and Reversible Learning in Hippocampus
Authors: Nicola Wilten , Clopath Claudia 
Published: May 2018

AbstractThe hippocampus is capable of rapidly learning incoming information, even if that information is only observed once. Further, this information can be replayed in a compressed format in either forward or reversed modes during Sharp Wave Ripples (SPW-R). We leveraged state-of-the-art techniques in training recurrent spiking networks to demonstrate how primarily inhibitory networks of neurons in CA3 and CA1 can: 1) generate internal theta sequences or “time-cells” to bind externally elicited spikes in the presence of septal inhibition, 2) reversibly compress the learned representation in the form of a SPW-R when septal inhibition is removed, 3) generate and refine gamma-assemblies during SPW-R mediated compression, and 4) regulate the inter-ripple-interval timing between SPW-R’s in ripple clusters. From the fast time scale of neurons to the slow time scale of behaviors, inhibitory networks serve as the scaffolding for one-shot learning by replaying, reversing, refining, and regulating spike sequences.