bluuebunny/crossref_metadata_2025_split huggingface dataset:
Automatic Tube Current Modulation and Tube Voltage Selection in Pediatric Computed Tomography
Authors: Papadakis Antonios E. , Damilakis John 
Published: December 2018

Objectives
The aim of this study was to investigate the effects of a modern automatic tube current modulation (ATCM) and automatic tube voltage selection (ATVS) system on radiation dose and image quality in pediatric head, and torso computed tomography (CT) examinations for various clinical indications.

Materials and Methods
Four physical anthropomorphic phantoms that represent the average individual as neonate, 1-year-old, 5-year-old, and 10-year-old child were used. Standard head, thorax, and abdomen/pelvis acquisitions were performed with (1) fixed tube current, (2) ATCM, and (3) ATVS. Acquisitions were performed at various radiation dose levels to generate images at different levels of quality. Reference volume CT dose index (CTDIvol), reference image noise, and reference contrast-to-noise ratios were determined. The potential dose reductions with ATCM and ATVS were assessed.

Results
The percent reduction of CTDIvol with ATCM ranged from 8% to 24% for head, 16% to 39% for thorax, and 25% to 41% for abdomen/pelvis. The percent reduction of CTDIvol with ATVS varied on the clinical indication. In CT angiography, ATVS resulted to the highest dose reduction, which was up to 70% for head, 77% for thorax, and 34% for abdomen/pelvis. In noncontrast examinations, ATVS increased dose by up to 21% for head, whereas reduced dose by up to 34% for thorax and 48% for abdomen/pelvis.

Conclusions
In pediatric CT, the use of ATCM significantly reduces radiation dose and maintains image noise. The additional use of ATVS reduces further the radiation dose for thorax and abdomen/pelvis, and maintains contrast-to-noise ratio for the specified clinical diagnostic task.
“Migratory” Pattern of Corticosteroid-Related Multifocal Bone Infarction on Bone Scintigraphy
Authors: Roarke Michael A. , Nguyen Ba D. , Yang Ming , Roarke Michael C. 
Published: December 2018

Abstract
We present serial bone scintigraphy examinations in a 38-year-old woman who presented with posterior left rib pain in the setting of adrenal insufficiency secondary to pituitary damage as a result of radiation treatment for orbital sarcoma.
Sensory Restoration of the Facial Region
Authors: Liu Xiangia , Daugherty Robyn , Konofaos Petros 
Published: December 2018

AbstractNormal sensitivity of the face is very important for preserving its integrity and function as an efferent source of information for the brain. The trigeminal nerve, which is the largest cranial nerve, conducts most of facial sensory function through its 3 branches: the ophthalmic nerve (V1), the maxillary nerve (V2), and the mandibular nerve (V3). The trigeminal nerve may be damaged by a variety of etiologies including inflammatory disorders, brain tumor resection, trauma, iatrogenic injury, or congenital anomalies. Temporary or permanent damage can lead to numbness, lip-biting injury, corneal anesthesia, and, in the worst scenario, even blindness. Different age groups, mechanisms of the injury, and the time between injury and repair can affect the final result of the nerve repair. Unlike the well-understood facial nerve palsy, so far there is no universal approach to restore the facial sensory function. This article serves to thoroughly review the basic anatomy of trigeminal nerve, diagnosis of sensory nerve dysfunction, and attempts to establish a protocol for treatment and rehabilitation of affected patients.
Mechanical Dilation Using Nylon Monofilament Aids Multisite Lymphaticovenous Anastomosis Through Improving the Quality of Anastomosis
Authors: Yoshida Shuhei , Koshima Isao , Sasaki Ayano , Fujioka Yumio , Nagamatsu Shogo , Yokota Kazunori , Yamashita Shuji , Harima Mitsunobu 
Published: December 2018

AbstractLymphaticovenous anastomosis (LVA) is now a common treatment for lymphedema. It is important to create as many bypasses as possible to maximize the efficacy of LVA. We have developed a method whereby nylon monofilaments are placed inside the vessel lumen to act as dilators. We refer to this technique as mechanical dilation (MD) to distinguish it from intravascular stenting. In this study, we investigated the efficacy of the conventional supermicrosurgery technique performed with and without MD as a treatment for lower limb lymphedema. The LVA was performed using conventional supermicrosurgery alone in 10 patients (group without MD) and in combination with MD in another 10 patients (group with MD). The mean number of successful LVAs performed per hour was significantly higher in the group with MD than in the group without MD (1.42 ± 0.16 vs 1.14 ± 0.15;P< 0.05). The mean amount of improvement in the lower extremity lymphedema index was significantly greater in the group with MD than in the group without MD (7.34 ± 1.57 vs 4.41 ± 1.53;P= 0.003 < 0.05). A statistically significant correlation was found between the number of successful LVAs and amount of improvement in lymphedema (r= 0.449,P= 0.047 < 0.05). Our findings suggest that use of MD does not shorten the operating time or increase the number of LVAs that can be performed but may make it possible to increase the number of successful LVAs that can be performed between vessels with a diameter of less than 0.3 mm. Use of MD could increase the improvement rate of lymphedema to a greater extent than that achieved by conventional microsurgery alone.
A Novel Frameshift Mutation of GLI3 Causes Isolated Postaxial Polydactyly
Authors: Ni Feng , Han Gang , Guo Ruiji , Cui Hengqing , Wang Bin , Li Qingfeng 
Published: December 2018

Background

GLI3 encodes a transcription factor in the sonic hedgehog signaling pathway, which is essential in regulating the human limb bud development, especially on the anteroposterior axis. Mutations in GLI3 have been confirmed to be associated with various human congenital malformations, including Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome, and isolated polydactyly. A robust gene-phenotype relationship between GLI3 and Greig cephalopolysyndactyly syndrome and Pallister-Hall syndrome has been well elucidated, and less is known about GLI3 mutation–caused isolated polydactyly. This study intended to perform a mutation analysis of GLl3 in a family with isolated polydactyly.

Methods
A 3-generation Chinese family with 19 members was recruited in this study, of which the proband and her mother were affected with polydactyly. The whole-exon sequencing was performed to find mutations, and Sanger sequencing was performed to validate the mutations.

Results
We found a novel heterozygous frameshift mutation of GLI3 (c.1180C > TT, p.P394fs18x) in the proband of a Chinese family with isolated postaxial polydactyly. No mutation was detected in the proband's father or another 2 patients with sporadic preaxial polydactyly.

Conclusions
By systematically reviewing the gene-phenotype relationship, we found that GLI3 p.P394fs18x mutation might be specific for isolated postaxial polydactyly.
Muscle-Splitting Augmentation-Mastopexy
Authors: Lang Stümpfle Rubem , Piccinini Pedro Salomão , Pereira-Lima Lucas Figueras , Valiati André Alves 
Published: December 2018

Abstract
Simultaneous augmentation-mastopexy can achieve excellent patient and surgeon satisfaction but continues to pose a challenge, with revision rates of up to 25%. Recurrent ptosis and poor overall breast shape are 2 common reasons for reoperation, whereas some of the most feared complications is breast implant exposure, infection, and loss secondary to wound breakdown; excessively large implants or too much tension during closure are possible contributing factors. We describe a technique for augmentation-mastopexy combining a muscle-splitting pocket for implant placement along with an inferior flap, which helps secure the implant in place and provides coverage in case of wound dehiscence. A retrospective chart review was performed (January 2015 to December 2017) of women who underwent augmentation-mastopexy with round, textured silicone gel implants using a muscle-splitting technique combined with an inferior de-epithelialized dermoglandular flap. A total of 118 patients (236 breasts) were operated on. Mean follow-up was 13 months (10–42 months). Mean patient age was 33.3 years (24–55 years). Mean operative time was 102.9 minutes (80–135 minutes), and implant size ranged from 175 to 350 mL (mode, 275 mL). There were no cases of implant extrusion, nipple-areola complex ischemia, or surgical site infection; however, 1 patient required revision surgery for implant malposition, and 2 had a postoperative hematoma. In summary, the technique we describe combines 2 established mammaplasty techniques, ensuring upper pole fullness with good cleavage, implant protection in case of wound breakdown, and good patient satisfaction as evidenced by a low revision rate and minimal complications.

Level of Evidence
IV, therapeutic. Evidence obtained from multiple time series with or without the intervention, such as case studies.
Female Sexual Function and Sexual Well-being Before and After Breast Reduction
Authors: Janik Piotr E. , Charytonowicz Daria , Miszczyk Jakub , Charytonowicz Michał 
Published: December 2018

Background
Breast reduction is one of the most frequently performed procedures in plastic surgery practice. Patients often undergo this procedure for not only aesthetic but also functional reasons because breast hypertrophy may hinder daily activities because of chronic spinal pain. Breast reduction has a documented impact on quality of life. However, there are only a few reports on the influence of breast reduction on sexuality.

Objective
The aim of the study was to analyze the impact of breast reduction on female sexual dysfunction and on sexual well-being.

Methods
Ours was a pilot cross-sectional 2-cohort study, including 75 females who had undergone breast reduction (post-BRG) and a preoperative group of 27 females with breast hypertrophy awaiting surgery (pre-BRG). Female Sexual Function Index (FSFI), Sexual Quality of Life–Female, and BREAST-Q Reduction/Mastopexy module were assessed within 12 to 36 months postoperatively via e-mail. A review of literature was performed.

Results
The mean total Sexual Quality of Life–Female score was significantly higher in the post-BRG than in the pre-BRG (76.7 ± 11.6 vs 64.4 ± 13.7; P < 0.01). The mean total FSFI score in the pre-BRG was 21 ± 11.4. It was below the FSFI cutoff score for female sexual dysfunction (≤26). In the post-BRG, the total FSFI score was significantly higher (27.4 ± 9.1; P < 0.01). The outcome of the sexual well-being domain of BREAST-Q was significantly higher in the post-BRG (72 ± 14 vs 39.3 ± 14.5; P < 0.01).

Conclusions
Breast reduction procedure has a positive impact on female sexual function, sexual quality of life, and sexual well-being.
Myelin oligodendrocyte glycoprotein antibodies in neuromyelitis optica spectrum disorder
Authors: de Seze Jerome 
Published: December 2018

Purpose of review
Neuromyelitis optica spectrum disorder (NMOSD) is a severe inflammatory disease of the central nervous system, particularly characterized by disabling episodes of optic neuritis and longitudinally extensive transverse myelitis. The pathogenic characteristic is the presence of antiaquaporin 4 antibodies (AQP4-Abs) in the cerebrospinal fluid and serum of most of the affected patients. However, a proportion of the patients (around 20–30%) that have a typical phenotype of NMO are seronegative for AQP4-Abs.

Recent findings
A proportion of these seronegative patients (20%) can express antibodies to myelin oligodendrocyte glycoprotein (MOG-Abs). The presence of MOG-Abs in the sera of seronegative NMO patients is associated with typical features of NMO in several patients but in some of them with relapsing episodes of optic neuritis or transverse myelitis.

Summary
In this article, we review the clinical and therapeutic aspects of MOG-Ab-positive NMOSD, with a specific focus on optic neuritis.
Estimating driver-tissues by robust selective expression of genes associated with complex diseases or traits
Authors: Jiang Lin , Xue Chao , Chen Shangzhen , Dai Sheng , Chen Peikai , Sham Pak Chung , Wang Haijun , Li Miaoxin 
Published: December 2018

AbstractThe driver tissues or cell-types of many human diseases, in which susceptibility genes cause the diseases, remain elusive. We developed a framework to detect the causal-tissues of complex diseases or traits according to selective expression of disease-associated genes in genome-wide association study (GWAS). The core method of the framework is a new robust z-score to estimate genes’ expression selectivity. Through extensive computing simulations and comparative analyses in a large-scale schizophrenia GWAS, we demonstrate the robust z-score is more sensitive than existing methods to detect multiple selectively expressed tissues, which further lead to the estimation of more biological sensible driver tissues. The effectiveness of this framework is further validated in five representative complex diseases with the usage of GWAS summary statistics and transcript-level expression in GTEx project. Finally, we also demonstrate that the prioritized tissues and the robust selective expression can enhance characterization of directly associated genes of a disease as well. Interesting results include the estimation of lung as a driver tissue of rheumatoid arthritis, consistent with clinical observations of morbidity between rheumatoid arthritis and lung diseases.
When temporal attention lacks confidence
Authors: Recht Samuel , Mamassian Pascal , Gardelle Vincent de 
Published: December 2018

AbstractAccurate decision-making requires estimating the uncertainty of perceptual events. Temporal attention is known to enhance the selection of a stimulus at a relevant time, but how does this selective process affect a decision’s confidence? Here, we adapted an “Attentional blink” paradigm to investigate the effect of temporal attention on confidence judgments. In a RSVP stream of letters, two targets were cued to induce two successive attentional episodes. We found that the confidence ratings given to an item systematically followed the probability with which this item was reported. This coupling made confidence oblivious to selection delays usually observed when the two targets were separated by long intervals (249ms to 747ms). In particular, during this period, confidence was higher for more delayed item selection. One exception to this relationship between confidence and temporal selection was found when the second target appeared soon after (83ms) the first attentional episode. Here, a strong under-confidence bias was observed. Importantly, however, this early confidence bias did not impact confidence sensitivity in discriminating correct and erroneous responses. These results suggest that temporal attention and confidence can operate at different time scales, a difference which seems to reflect high-level heuristic biases rather than segregated processes for decision and confidence evidence.
Reconciling Ecogeographical Rules: Rainfall and Temperature Predict Global Colour Variation in the Largest Bird Radiation
Authors: Delhey Kaspar , Dale James , Valcu Mihai , Kempenaers Bart 
Published: December 2018

AbstractEcogeographical rules that associate climate with organismal form and function can reveal patterns of climatic adaptation. Two rules link animal coloration with climate: Gloger’s rule (darker coloration where wet and warm), and Bogert’s rule (darker coloration where cold). Whereas Gloger’s rule was proposed for endotherms, and Bogert’s rule for ectotherms, both rules may apply more broadly, despite their seemingly opposing effects. Here we test this contradiction on a global scale across passerine birds. Consistent with Gloger’s rule, birds were darker in wetter areas and, following Bogert’s rule, lighter where warm, although birds became lighter again at very low temperatures. Rainfall and temperature had antagonistic or additive effects depending on their pattern of covariation, and this predicted whether birds followed the rules. We integrate both rules into a general framework to explain heterogeneity in climatic effects on coloration, which has implications to understand patterns of diversification, climatic adaptation and climate change impacts.
Transcriptional logic of cell fate specification and axon guidance in early born retinal neurons revealed by single-cell mRNA profiling
Authors: Giudice Quentin Lo , Leleu Marion , Fabre Pierre J. 
Published: December 2018

ABSTRACTRetinal ganglion cells (RGC), together with cone photoreceptors, horizontal cells (HC) and amacrine cells (AC), are the first classes of neurons produced in the retina. Here we have profiled 5348 single retinal cells and provided a comprehensive transcriptomic atlas showing the broad diversity of the developing retina at the time when the four early-born cells are being produced. Our results show the transcriptional sequences that establish the hierarchical ordering of early cell fate specification in the retina. RGC maturation follows six waves of gene expression, giving new insight into the regulatory logic of RGC differentiation. Early-generated RGCs transcribe an increasing amount of guidance cues for young peripheral RGC axons that express the matching receptors. Finally, spatial signatures in sub-populations of RGCs allowed to define novel molecular markers that are spatially restricted during the development of the retina. Altogether this study is a valuable resource that identifies new players in mouse retinal development, shedding light on transcription factors sequence and guidance cues dynamics in space and time.
Genomic features of parthenogenetic animals
Authors: Jaron Kamil S. , Bast Jens , Nowell Reuben W. , Ranallo-Benavidez T. Rhyker , Robinson-Rechavi Marc , Schwander Tanja 
Published: December 2018

AbstractEvolution without sex is predicted to impact genomes in numerous ways. Case studies of individual parthenogenetic animals have reported peculiar genomic features which were suggested to be caused by their mode of reproduction, including high heterozygosity, a high abundance of horizontally acquired genes, a low transposable element load, or the presence of palindromes. We systematically characterized these genomic features in published genomes of 26 parthenogenetic animals representing at least 18 independent transitions to asexuality. Surprisingly, not a single feature was systematically replicated across a majority of these transitions, suggesting that previously reported patterns were lineage specific rather than illustrating general consequences of parthenogenesis. We found that only parthenogens of hybrid origin were characterized by high heterozygosity levels. Parthenogens that were not of hybrid origin appeared to be largely homozygous, independently of the cellular mechanism underlying parthenogenesis. Overall, despite the importance of recombination rate variation for the evolution of sexual animal genomes, the genome-wide absence of recombination does not appear to have had the dramatic effects which are expected from classical theoretical models. The reasons for this are probably a combination of lineage-specific patterns, impact of the origin of parthenogenesis, and a survivorship bias of parthenogenetic lineages.
Multinomial modelling of TB/HIV co-infection yields a robust predictive signature and generates hypotheses about the HIV+TB+ disease state
Authors: Duffy Fergal J , Thompson Ethan G. , Scriba Thomas J. , Zak Daniel E 
Published: December 2018

AbstractBackgroundCurrent diagnostics are inadequate to meet the challenges presented by coinfection withMycobacterium tuberculosis(Mtb) and HIV, the leading cause of death for HIV-infected individuals. Improved characterisation of Mtb/HIV coinfection as a distinct disease state may lead to better identification and treatment of affected individuals.MethodsFour previously published TB and HIV co-infection related datasets were used to train and validate multinomial machine learning classifiers that simultaneously predict TB and HIV status. Classifier predictive performance was measured using leave-one-out cross validation on the training set and blind predictive performance on multiple test sets using area under the ROC curve (AUC) as the performance metric. Linear modelling of signature gene expression was applied to systematically classify genes as TB-only, HIV-only or combined TB/HIV.ResultsThe optimal signature discovered was a single 10-gene random forest multinomial signature that robustly discriminates active tuberculosis (TB) from other non-TB disease states with improved performance compared with previously published signatures (AUC: 0. 87), and specifically discriminates active TB/HIV co-infection from all other conditions (AUC: 0.88). Signature genes exhibited a variety of transcriptional patterns including both TB-only and HIV-only response genes and genes with expression patterns driven by interactions between HIV and TB infection states, including the CD8+ T-cell receptor LAG3 and the apoptosis-related gene CERKL.ConclusionsBy explicitly including distinct disease states within the machine learning analysis framework, we developed a compact and highly diagnostic signature that simultaneously discriminates multiple disease states associated with Mtb/HIV co-infection. Examination of the expression patterns of signature genes suggests mechanisms underlying the unique inflammatory conditions associated with active TB in the presence of HIV. In particular, we observed that disregulation of CD8+ effector T-cell and NK-cell associated genes may be an important feature of Mtb/HIV co-infection.
Improving the usability and comprehensiveness of microbial databases
Authors: Loeffler Caitlin , Karlsberg Aaron , Martin Lana S. , Eskin Eleazar , Koslicki David , Mangul Serghei 
Published: December 2018

AbstractMetagenomics studies leverage genomic reference databases to generate discoveries in basic science and translational research. However, current microbial studies use disparate reference databases that lack consistent standards of specimen inclusion, data preparation, taxon labelling and accessibility, hindering their quality and comprehensiveness, and calling for the establishment of recommendations for reference genome database assembly. Here, we analyze existing fungal and bacterial databases and discuss guidelines for the development of a master reference database that promises to improve the quality and quantity of omics research.