bluuebunny/crossref_metadata_2025_split huggingface dataset:
Mickey Mouse Sign on Bone Scan
Authors: Khan Fiza M. , Chen Bo , Takalkar Amol M. 
Published: January 2022

Abstract
An 81-year-old man with prostate adenocarcinoma demonstrated interval progression of the osteoblastic metastatic disease on surveillant bone scan with a new lumbar lesion resembling the configuration of Mickey's head (Mickey Mouse sign), a sign considered to be specific for Paget disease, even in the presence of malignancy. However, our case demonstrates that this appearance can be caused by other etiologies. In the era of SPECT/CT and MRI, it is prudent to obtain further cross-sectional correlation at the time of radionuclide bone scintigraphy to clarify the underlying cause for “Mickey Mouse sign” to prevent misinterpretation, allowing for efficient and accurate patientcare.
Incidental Spinal Meningioma on an 18F-Fluciclovine PET/CT
Authors: Marcus Charles , Baugnon Kristen , Schuster David M. 
Published: January 2022

Abstract
Incidental PET radiotracer uptake is not infrequently encountered in PET/CT imaging. We present the 18F-fluciclovine PET/CT of a 60-year-old man undergoing evaluation of biochemically recurrent prostate cancer with incidental radiotracer uptake in the thoracic spinal canal, which was proven to be a World Health Organization grade I spinal meningioma on surgical pathology. 18F-fluciclovine and 18F-FDG PET/CT images of a 60-year-old man with biochemically recurrent prostate cancer prostate cancer with a prostate-specific antigen of 14.4 ng/mL, 7 years after primary external beam radiation followed by a prostate-specific antigen nadir of 1.6 ng/mL, are presented.
18FDG PET–Positive Congenital Pulmonary Airway Malformation Mimicking Lung Cancer
Authors: Morizumi Shun , Hino Hiroyuki , Miyatake Kana , Naruse Keishi , Shinohara Tsutomu 
Published: January 2022

Abstract
Adult cases of type 2 congenital pulmonary airway malformation (CPAM) are extremely rare, and no PET/CT findings have been reported for CPAM. We encountered a case of 18FDG PET–positive CPAM mimicking lung cancer in a 45-year-old asymptomatic man. CT revealed a large cavitary mass in the left lower lobe. SUVmax measured by 18FDG PET was 3.5. The patient underwent video-assisted thoracoscopic lobectomy on suspicion of CPAM with/or lung cancer. Histologically, no neoplastic cells were present, and the lesion was consistent with type 2 CPAM. An adenomatoid proliferative pattern and granulomatous lesions may have contributed to a PET/CT false-positive result.
The Spike–Wave Index of the First 100 Seconds of Sleep Can Be a Reliable Scoring Method for Electrographic Status Epilepticus in Sleep
Authors: Kulkarni Neil , Albert Dara V. F. , Klamer Brett , Drees Michael , Twanow Jaime D. 
Published: January 2022

Introduction:
Electrical status epilepticus in sleep (ESES) is an electrographic pattern in which interictal epileptiform activity is augmented by the transition to sleep, with non-rapid eye movement sleep state characterized by near-continuous lateralized or bilateral epileptiform discharges. The aim of this study was to measure the reliability of the spike–wave index (SWI) of the first 100 seconds of sleep as a tool for the diagnosis of ESES.

Methods:
One hundred forty studies from 60 unique patients met the inclusion. Two neurophysiologists calculated the SWI of the first 100 seconds of spontaneous stage II non-rapid eye movement sleep. This was compared with the SWI of the first 5 minutes of non-rapid eye movement sleep and the cumulative SWI of three 5-minute bins of sleep. Agreement between the three SWI methods were analyzed using several statistical tools and methods.

Results:
Using an SWI of 50% as a diagnostic cutoff, 57% of records had a diagnosis of ESES based on the first 100 seconds of sleep. Fifty-four percent of records had a diagnosis of ESES based on the method of using the SWI of three bins. This resulted in a diagnostic accuracy of 92%, sensitivity of 96%, and specificity of 88%. Positive predictive values of children diagnosed with ESES using the first 100 seconds of sleep, compared with 3 combined bins, was determined to be 90% and a negative predictive value was determined to be 95%.

Conclusions:
This analysis confirmed the diagnostic accuracy of using the SWI of the first 100 seconds of sleep and the cumulative total of three 5-minute bins.
The heritability of BMI varies across the range of BMI – a heritability curve analysis in a twin cohort
Authors: Azzolini Francesca , Berentsen Geir D. , Skaug Hans J. , Hjelmborg Jacob v.B. , Kaprio Jaakko A. 
Published: January 2022

AbstractThe heritability of traits such as body mass index (BMI), a measure of obesity, is generally estimated using family, twin, and increasingly by molecular genetic approaches. These studies generally assume that genetic effects are uniform across all trait values, yet there is emerging evidence that this may not always be the case. This paper analyzes twin data using a recently developed measure of heritability called the heritability curve. Under the assumption that trait values in twin pairs are governed by a flexible Gaussian mixture distribution, heritability curves may vary across trait values. The data consist of repeated measures of BMI on 1506 monozygotic (MZ) and 2843 like-sexed dizygotic (DZ) adult twin pairs, gathered from multiple surveys in older Finnish Twin Cohorts. The heritability curve and BMI value-specific MZ and DZ pairwise correlations were estimated, and these varied across the range of BMI. MZ correlations were highest at BMI values from 21 to 24, with a stronger decrease for women than for men at higher values. Models with additive and dominance effects fit best at low and high BMI values, while models with additive genetic and common environmental effects fit best in the normal range of BMI. Thus, we demonstrate that twin and molecular genetic studies need to consider how genetic effects vary across trait values. Such variation may reconcile findings of traits with high heritabilities and major differences in mean values between countries or over time.
Detection of bifenthrin, bifenazate, etoxazole resistance inTetranychus urticaecollected from mint fields and hop yards using targeted sequencing and TaqMan approaches
Authors: Shumate Silas , Haylett Maggie , Nelson Brenda , Young Nicole , Lamour Kurt , Walsh Doug , Bradford Benjamin , Clements Justin 
Published: January 2022

AbstractTetranychus urticae(Koch) is an economically important pest of many agricultural commodities in the Pacific Northwest. Multiple miticides are currently registered for control including abamectin, bifenazate, bifenthrin, and extoxazole. However, populations ofTetranychus urticaehave developed miticide resistance through multiple mechanisms, in many different growing regions. Producers of agricultural commodities whereTetranychus urticaeinfestations are problematic rely on integrated pest management tools to determine optimal control methods. Within this species multiple single nucleotide polymorphisms have been documented in different genes which are associated with miticide resistance phenotypes. The detection of these mutations through TaqMan qPCR has been suggested as a practical, quick, and reliable tool to inform agricultural producers of miticide resistance phenotypes present within their fields and have potential utility for making appropriate miticide application and integrated pest management decisions. Within this investigation we examined the use of a TaqMan qPCR-based approach to determine miticide resistance genotypes in field-collected populations ofTetranychus urticaefrom mint fields and hop yards in the Pacific Northwest of the United States and confirmed the results with a multiplex targeted sequencing. The results suggest the TaqMan approach accurately genotypesTetranychus urticaepopulations collected from agricultural fields. The interpretation of the results, however, provide additional challenges for integrated pest management practitioners, including making miticide application recommendations where populations ofTetranychus urticaeare a mix of resistant and wildtype individuals.
RICTOR Drives ZFX-mediated Ganglioside Biosynthesis to Promote Breast Cancer Progression
Authors: Rajput Kajal , Ansari Mohd. Nafees , Jha Somesh K. , Medatwal Nihal , Sharma Pankaj , Datta Sudeshna , Kar Animesh , Pani Trishna , Cholke Kaushavi , Rana Kajal , Khan Ali , Mukherjee Geetashree , Deo SVS , Prabhu Jyothi S , Mukhopadhyay Arnab , Bajaj Avinash , Dasgupta Ujjaini 
Published: January 2022

ABSTRACTSphingolipid and ganglioside metabolic pathways are crucial components of cell signalling, having established roles in tumor cell proliferation, invasion, and migration. However, regulatory mechanisms controlling sphingolipid and ganglioside biosynthesis in mammalian cells is less known. Here, we show that RICTOR, the regulatory subunit of mTORC2, regulates the synthesis of sphingolipids and gangliosides in luminal breast cancer-specific MCF-7 and BT-474 cells through transcriptional and epigenetic mechanisms. RICTOR regulates glucosylceramide levels by modulating the expression of UDP-Glucose Ceramide Glucosyl transferase (UGCG). We identify Zinc Finger protein X-linked (ZFX) as a RICTOR-responsive transcription factor whose recruitment to the UGCG promoter is regulated by DNA methyltransferases and histone demethylase (KDM5A) that are known AKT substrates. We further demonstrate that RICTOR regulates the synthesis of GD3 gangliosides through ZFX and UGCG, and triggers the activation of EGFR signalling pathway, thereby promoting tumor growth. In line with our findings in cell culture and mice models, we observe an elevated expression of RICTOR, ZFX, and UGCG in Indian luminal breast cancer tissues, and in TCGA and METABRIC datasets. Together, we establish a key regulatory circuit, RICTOR-AKT-ZFX-UGCG-Ganglioside-EGFR-AKT, and elucidate its contribution to breast cancer progression.
A method for partitioning trends in genetic mean and variance to understand breeding practices
Authors: Oliveira T. P. , Obšteter J. , Pocrnic I. , Heslot N. , Gorjanc G. 
Published: January 2022

AbstractBackgroundIn breeding programmes, the observed genetic change is a sum of the contributions of different groups of individuals. Quantifying these sources of genetic change is essential for identifying the key breeding actions and optimizing breeding programmes. However, it is difficult to disentangle the contribution of individual groups due to the inherent complexity of breeding programmes. Here we extend the previously developed method for partitioning genetic mean by paths of selection to work both with the mean and variance of breeding values.MethodsWe first extended the partitioning method to quantify the contribution of different groups to genetic variance assuming breeding values are known. Second, we combined the partitioning method with the Markov Chain Monte Carlo approach to draw samples from the posterior distribution of breeding values and use these samples for computing the point and interval estimates of partitions for the genetic mean and variance. We implemented the method in theRpackageAlphaPart. We demonstrated the method with a simulated cattle breeding programme.ResultsWe showed how to quantify the contribution of different groups of individuals to genetic mean and variance. We showed that the contributions of different selection paths to genetic variance are not necessarily independent. Finally, we observed some limitations of the partitioning method under a misspecified model, suggesting the need for a genomic partitioning method.ConclusionWe presented a partitioning method to quantify sources of change in genetic mean and variance in breeding programmes. The method can help breeders and researchers understand the dynamics in genetic mean and variance in a breeding programme. The developed method for partitioning genetic mean and variance is a powerful method for understanding how different paths of selection interact within a breeding programme and how they can be optimised.
Single-nucleus RNA-seq of normal-appearing brain regions in relapsing-remitting vs. secondary progressive multiple sclerosis
Authors: Kihara Yasuyuki , Zhu Yunjiao , Jonnalagadda Deepa , Romanow William , Palmer Carter , Siddoway Benjamin , Rivera Richard , Dutta Ranjan , Trapp Bruce D. , Chun Jerold 
Published: January 2022

SummaryMultiple sclerosis (MS) is an immune-mediated demyelinating disease that alters central nervous system (CNS) functions. Relapsing-remitting MS (RRMS) is the most common form, which can transform into secondary-progressive MS (SPMS) that is associated with progressive neurodegeneration. Single-nucleus RNA sequencing (snRNA-seq) of MS lesions identified disease-related transcriptomic alterations; however, their relationship to non-lesioned MS brain regions has not been reported and which could identify prodromal or other disease susceptibility signatures. Here, snRNA-seq was used to generate high-quality RRMS vs. SPMS datasets of 33,197 nuclei from 8 normal-appearing MS brains, which revealed divergent cell type-specific changes. Notably, SPMS brains downregulated astrocytic sphingosine kinases (SPHK1/2) – the enzymes required to phosphorylate and activate the MS drug, fingolimod. This reduction was modeled with astrocyte-specific Sphk1/2 null mice in which fingolimod lost activity, supporting functionality of observed transcriptomic changes. These data provide an initial resource for studies of single cells from non-lesioned RRMS and SPMS brains.
Regenerating aggregates of hydra display unique cytoskeletal organisation that is absent in a regeneration-deficient strain
Authors: Bhagavan Hemalatha , Prabhu Sujana , Govindasamy Niraimathi , Ghanekar Yashoda 
Published: January 2022

AbstractHydra has the unique ability to regenerate from aggregates of dissociated single cells that lack positional information. We compared two strains of hydra, a strain of hydra that was capable of regenerating from aggregates and a strain of hydra that was deficient in this type of regeneration. We observed unique actin cytoskeletal arrangements that were present in the regenerates of regeneration-competent strain but not in the regeneration-deficient strain. Concomitantly, the regeneration-deficient strain failed to organise the extracellular cytoskeleton of laminin and collagen between ectodermal and endodermal epithelial cells. These interesting preliminary observations highlight the importance of the cytoskeletal organisation in regeneration of hydra and suggest that regeneration from the aggregates of dissociated cells through de novo patterning requires correct structural organisation of cytoskeletal elements.
Ablation of SAMD1 in Mice Causes Failure of Angiogenesis, Embryonic Lethality
Authors: Campbell Bruce , Engle Sandra , Ozolins Terence , Bourassa Patricia , Aiello Robert 
Published: January 2022

AbstractPathological retention of LDL in the intima is involved in atherosclerosis, although the retention mechanisms are not well-understood. Previously, we reported Sterile Alpha Motif Domain Containing 1 (SAMD1), a protein secreted by intimal smooth muscle cells in atherosclerotic lesions, appears to bind LDL in extracellular matrix around intimal cells. Fab-fragment inhibitors of apparently irreversible SAMD1/LDL binding reduced LDL retention in carotid injury models, but did not have a significant effect on early spontaneous lesion development. Our histology of mouse atherosclerosis models revealed extensive SAMD1 expression, possibly related to cell phenotype modulation and antigen presentation. Although the normal function of SAMD1 is unknown, it may have multiple epigenetic roles. For this report, we generated SAMD1−/−, SAMD1−/+, and SAMD1−/+ apoE−/− mice to further explore SAMD1’s role in atherosclerosis. SAMD1 was found in tissues throughout the SAMD1+/+ and SAMD1−/+ embryos. Homozygous loss of SAMD1 was embryonic lethal: at embryonic day 14, organs were partially developed and/or degraded; heads and brains were malformed; no blood vessels were observed; red blood cells were scattered and pooled, primarily near the embryo surface; and cell death was occurring. Development appeared normal in heterozygous SAMD1 embryos, but postnatal genotyping showed a reduced ability to thrive. Growth of atherosclerotic lesions in SAMD1−/+ apoE−/− after 35 weeks was not significantly less than in mice SAMD1+/+ apoE−/− mice.
rescomp: An R package for defining, simulating and visualizing ODE models of consumer-resource interactions
Authors: Letten Andrew D. 
Published: January 2022

AbstractMechanistic models of resource competition underpin numerous foundational concepts and theories in ecology, and continue to be employed widely to address diverse research questions. Nevertheless, current software tools present a comparatively steep barrier to entry.I introduce the R package rescomp to support the specification, simulation and visualisaton of a broad spectrum of consumer-resource interactions. rescomp is compatible with diverse model specifications, including an unlimited number of consumers and resources, different consumer functional responses (type I, II and III), different resource types (essential or substitutable) and supply dynamics (chemostats, logistic and/or pulsed), delayed consumer introductions, time dependent growth and consumption parameters, and instantaneous changes to consumer and/or resource densities.Several examples on implementing rescomp are provided. In addition, a wide variety of additional examples can be found in the package vignettes, including using rescomp to reproduce the results of several well known studies from the literature.rescomp provides users with an accessible tool to reproduce classic models in ecology, to specify models resembling a wide range of experimental designs, and to explore diverse novel model formulations.
Aedes aegypti and Aedes albopictus abundance, landscape coverage and spectral indices effects in a subtropical city of Argentina
Authors: Martín Mía Elisa , Alonso Ana Carolina , Faraone Janinna , Stein Marina , Estallo Elizabet Lilia 
Published: January 2022

AbstractThe presence, abundance and distribution of Aedes (Stegomyia) aegypti (Linnaeus 1762) and Aedes (Stegomyia) albopictus (Skuse 1894) could be conditioned by different data obtained from satellite remote sensors. In this paper, we aim to estimate the effect of landscape coverage and spectral indices on the abundance of Ae. aegypti and Ae. albopictus from the use of satellite remote sensors in Eldorado, Misiones, Argentina. Larvae of Aedes aegypti and Ae. albopictus were collected monthly from June 2016 to April 2018, in four outdoor environments: tire repair shops, cemeteries, family dwellings, and an urban natural park. The proportion of each land cover class was determined by Sentinel-2 image classification. Furthermore spectral indices were calculated. Generalized Linear Mixed Models were developed to analyze the possible effects of landscape coverage and vegetation indices on the abundance of mosquitoes. The model’s results showed the abundance of Ae. aegypti was better modeled by the minimum values of the NDVI index, the maximum values of the NDBI index and the interaction between both variables. In contrast, the abundance of Ae. albopictus has to be better explained by the model that includes the variables bare soil, low vegetation and the interaction between both variables.
Impaired OTUD7A-dependent Ankyrin regulation mediates neuronal dysfunction in mouse and human models of the 15q13.3 microdeletion syndrome
Authors: Unda Brianna K. , Chalil Leon , Yoon Sehyoun , Kilpatrick Savannah , Xing Sansi , Murtaza Nadeem , Cheng Anran , Afonso Alexandria , McCready Elizabeth , Ronen Gabriel , Howe Jennifer , Caye-Eude Aurélie , Verloes Alain , Doble Brad W. , Faivre Laurence , Vitobello Antonio , Scherer Stephen W , Lu Yu , Penzes Peter , Singh Karun K. 
Published: January 2022

ABSTRACTCopy number variations (CNV) are associated with psychiatric and neurodevelopmental disorders (NDDs), and most, including the recurrent 15q13.3 microdeletion disorder, have unknown disease mechanisms. We used a heterozygous 15q13.3 microdeletion mouse model and patient iPSC-derived neurons to reveal developmental defects in neuronal maturation and network activity. To identify the underlying molecular dysfunction, we developed a neuron-specific proximity-labeling proteomics (BioID2) pipeline, combined with patient mutations, to target the 15q13.3 CNV genetic driver OTUD7A. OTUD7A is an emerging independent NDD risk gene with no known function in the brain, but has putative deubiquitinase (DUB) function. The OTUD7A protein-protein interaction (PPI) network revealed interactions with synaptic, axonal, and cytoskeletal proteins and was enriched for known ASD and epilepsy risk genes. The interactions between OTUD7A and the NDD risk genes Ankyrin-G (Ank3) and Ankyrin-B (Ank2) were disrupted by an epilepsy-associated OTUD7A L233F variant. Further investigation of Ankyrin-G in mouse and human 15q13.3 microdeletion and OTUD7AL233F/L233F models revealed protein instability, increased polyubiquitination, and decreased levels in the axon initial segment (AIS), while structured illumination microscopy identified reduced Ankyrin-G nanodomains in dendritic spines. Functional analysis of human 15q13.3 microdeletion and OTUD7AL233F/L233F models revealed shared and distinct impairments to axonal growth and intrinsic excitability. Importantly, restoring OTUD7A or Ankyrin-G expression in 15q13.3 microdeletion neurons led to a reversal of abnormalities. These data reveal a critical OTUD7A-Ankyrin pathway in neuronal development, which is impaired in the 15q13.3 microdeletion syndrome, leading to neuronal dysfunction. Further, our study highlights the utility of targeting CNV genes using cell-type specific proteomics to identify shared and unexplored disease mechanisms across NDDs.
A comparative study of cellular diversity between the Xenopus pronephric and mouse metanephric nephron
Authors: Corkins Mark E. , Achieng MaryAnne , DeLay Bridget D. , Krneta-Stankic Vanja , Cain Margo P. , Walker Brandy L. , Chen Jichao , Lindström Nils O. , Miller Rachel K. 
Published: January 2022

AbstractThe kidney is an essential organ that ensures bodily fluid homeostasis and removes soluble waste products from the organism. The functional units within the kidneys are epithelial tubules called nephrons. These tubules take in filtrate from the blood or coelom and selectively reabsorb nutrients through evolutionarily conserved nephron segments, leaving waste product to be eliminated in the urine. Genes coding for functional transporters are segmentally expressed, enabling nephrons to function as selective filters. The developmental patterning program that generates these segments is of great interest. The Xenopus embryonic kidney, the pronephros, has served as a valuable model to identify genes involved in nephron formation and patterning. Prior work has defined the gene expression profiles of Xenopus epithelial nephron segments via in situ hybridization strategies, but our understanding of the cellular makeup of the Xenopus pronephric kidney remains incomplete. Here, we scrutinize the cellular composition of the Xenopus pronephric nephron through comparative analyses with previous Xenopus studies and single-cell mRNA sequencing of the adult mouse kidney, this study reconstructs the cellular makeup of the pronephric kidney and identifies conserved cells, segments, and expression profiles. The data highlight significant conservation in podocytes, proximal and distal tubule cells and divergence in cellular composition underlying the evolution of the corticomedullary axis, while emphasizing the Xenopus pronephros as a model for physiology and disease.Summary StatementAssessment of the conservation of gene expression between functional Xenopus laevis pronephric and mouse metanephric nephrons through single-cell RNA sequencing.