bluuebunny/crossref_metadata_2025_split huggingface dataset:
Fetal Phenotype and Prenatal Diagnosis of Kabuki Syndrome
Authors: Pan Yan , Yao Hong , Chen Gongli , Tan Qiong , Chang Qing , Ma Yongyi , Liang Zhiqing 
Published: September 2020

Abstract
Kabuki syndrome (MIM 147920) is an autosomal dominant rare disease featured with multiple malformations and mental retardation. The main clinical manifestations of Kabuki syndrome are characteristic facial features, skeletal abnormalities, dermatoglyphic abnormalities, postpartum growth retardation, mild to moderate mental retardation, as well as other structural and functional abnormalities that may involve multiple systems. The establishment of diagnosis needs to be combined with clinical phenotype and the discovery of pathogenic mutation. Compared with the abundant descriptions and records of genotype-phenotype of postpartum patients, few prenatal diagnosis cases of Kabuki syndrome had been reported, which partially result from lacking the knowledge of its phenotype in fetuses that might suggest the diagnosis. This report performed comprehensive prenatal examinations to identify a fetus's etiology with multiple structural anomalies characterized by ascites, thickening of local skin, and cardiac abnormalities. We ruled out intrauterine infection, thalassemia, and chromosome abnormality by corresponding tests. Finally, trio whole-exome sequencing revealed a de novo heterozygous variation c.15641g > A (p.r5214h) in exon 48 of the KMT2D gene was the fetus's genetic pathogeny causing Kabuki syndrome. This result suggests that Kabuki syndrome should be in the suspected etiology list for prenatal hydrops/ascites. Our study confirmed that prenatal whole-exome sequencing is an efficient tool for diagnosing fetal abnormalities, and a multidisciplinary team is necessary for providing pregnancy guidance to patients.
BRANCH RETINAL ARTERY OCCLUSION WITH PARACENTRAL ACUTE MIDDLE MACULOPATHY PRESUMABLY RELATED TO HEAVY CANNABIS USE
Authors: Ramtohul Prithvi , Freund K. Bailey , Sarraf David 
Published: September 2020

Purpose:
To report a case of branch retinal artery occlusion associated with paracentral acute middle maculopathy on spectral-domain optical coherence tomography presumably related to heavy cannabis consumption.

Methods:
Retrospective case report. Spectral-domain optical coherence tomography, fluorescein angiography, and optical coherence tomography angiography were performed.

Results:
A 21-year-old healthy man described the acute onset of superior visual field loss in his right eye. He admitted smoking approximately 15 g daily of cannabis for several weeks during COVID-19 confinement. Ophthalmoscopic examination of the right eye showed inferotemporal retinal whitening. Spectral-domain optical coherence tomography illustrated evidence of the ischemic cascade with diffuse hyperreflectivity of the inner and middle retinal layers within the central region of the retinal infarct and paracentral acute middle maculopathy at the border of the infarct. Optical coherence tomography angiography demonstrated predominant flow signal loss at the level of the deep retinal capillary plexus. Fluorescein angiography and complete systemic workup were unremarkable.

Conclusion:
Branch retinal artery occlusion and paracentral acute middle maculopathy may be related to heavy cannabis use as the result of transient arterial vasospasm.
The Effect of Psychosocial Work Factors on Headache
Authors: Urhammer Caroline , Grynderup Matias Brødsgaard , Appel Andreas Moses , Hansen Åse Marie , Hansen Jakob Møller , Kaerlev Linda , Nabe-Nielsen Kirsten 
Published: September 2020

Objective:
To investigate the cross-sectional and longitudinal association between psychosocial work factors, assessed as work-unit averages, and headache. For comparison, we also applied individual exposure measures.

Methods:
We used questionnaire-data on headache and psychosocial work factors (PWF). In total, 2247 employees were included in the cross-sectional analyses and 553 in the longitudinal analyses using work-unit averages. The corresponding numbers for the analyses using individual exposure measures were 4261 and 942 employees.

Results:
Low skill discretion and low decision authority were most consistently associated with higher odds of headache across all analyses. Role conflicts, bullying, and effort-reward imbalance were associated with headache in some analyses. All PWF were associated with headache in cross-sectional analyses with individual exposure measures.

Conclusion:
This study partly supports the hypothesis of an effect of PWF, as a source of psychological stress, on the risk of headache.
Narrative Identity, Metacognition, and Well-Being in Patients With Schizophrenia or HIV
Authors: Holm Tine , Thomsen Dorthe Kirkegaard , Huling Kelsey S. , Fischer Melanie W. , Lysaker Paul H. 
Published: September 2020

Abstract
It has been proposed that schizophrenia reflects disturbances in personal identity, which include sense of personal agency, sense of belonging within a social group, and metacognition. Less is known about how these different processes are related to one another and to well-being outcomes. To study this, we measured themes of agency and communion in narrative identity in 29 individuals with schizophrenia and 29 individuals with HIV. All participants had previously been assessed on metacognitive abilities using the Indiana Psychiatric Illness Interview (IPII) and completed scales measuring hopelessness and self-esteem. For the present study, themes of agency and communion were coded from the IPII transcripts. Results indicated that participants with schizophrenia had lower levels of agency and communion compared with participants with HIV. More presence of agency and communion themes were related to better metacognitive abilities as well as less hopelessness and higher self-esteem across groups. Agency predicted variance in hopelessness after controlling for metacognitive abilities. The results suggest that although the construction of narrative identity may depend on metacognitive abilities, agency themes predict outcomes beyond metacognition.
Pain perception and processing in individuals with posttraumatic stress disorder: a systematic review with meta-analysis
Authors: Tesarz Jonas , Baumeister David , Andersen Tonny Elmose , Vaegter Henrik Bjarke 
Published: September 2020

Abstract
Posttraumatic stress disorder (PTSD) is a known risk factor for the development of chronic pain conditions, and almost 1 in 5 individuals with chronic pain fulfills the criteria for PTSD. However, the relationship between PTSD and pain is poorly understood and studies on pain perception in patients with PTSD show inconsistent results suggesting that different sensory profiles exist among individuals with PTSD. Here, we (1) systematically summarize the current literature on experimentally evoked pain perception in patients with PTSD compared to subjects without PTSD, and (2) assess whether the nature of the traumatic event is associated with different patterns in pain perception. The main outcome measures were pain threshold, pain tolerance, and pain intensity ratings as well as measures of temporal summation of pain and conditioned pain modulation. A systematic search of MEDLINE, EMBASE, Web of Science, PsycINFO, and CINAHL identified 21 studies for the meta-analysis, including 422 individuals with PTSD and 496 PTSD-free controls. No main effect of PTSD on any outcome measure was found. However, stratification according to the nature of trauma revealed significant differences of small to medium effect sizes. Combat-related PTSD was associated with increased pain thresholds, whereas accident-related PTSD was associated with decreased pain thresholds. No clear relationship between PTSD and experimentally evoked pain perception exists. The type of trauma may affect pain thresholds differently indicating the presence of different subgroups with qualitative differences in pain processing.
Patient-centered prescription opioid tapering in community outpatients with chronic pain: 2- to 3-year follow-up in a subset of patients
Authors: Ziadni Maisa , Chen Abby L. , Krishnamurthy Parthasarathy , Flood Pamela , Stieg Richard L. , Darnall Beth D. 
Published: September 2020

Abstract

Objective:
We previously reported promising results for a 4-month patient-centered voluntary opioid tapering study. Key questions remain about the durability of effects and possible risks after opioid reduction. We provide the longest follow-up data to date for prospective opioid tapering: 2- to 3-year follow-up for pain intensity and daily opioid use in a subset of patients from our original 4-month opioid tapering study.

Methods:
Twenty-three patients (44% of original sample) responded to contact attempts through telephone and reported their average pain intensity and current opioid use. Opioid doses were converted to morphine equivalent daily dose (MEDD). Data were analyzed within a repeated-measures model where time (baseline, 4 months, and 2–3 years) was the within-subject factor.

Results:
Among reachable patients, the effect of time on change in MEDD from baseline to 4 months to 2 to 3 years was significant. Since baseline, 20 (95%) of the current sample reduced MEDD, and 15 (71%) further reduced MEDD at 2- to 3-year follow-up. There was no effect of time on change in pain intensity from baseline to 4 months to 2 to 3 years. Since baseline, 11 (52%) of the current sample reported pain reduction, and 12 (57%) reported reduced pain from the 4-month follow-up to the 2- to 3-year follow-up. Five (24%) reported increased pain intensity.

Conclusion:
Study findings reveal continued MEDD reduction and enduring pain stability 2 to 3 years after a patient-centered voluntary opioid tapering program for a substantial fraction of patients. Notably, we were not able to verify current opioid use through medical records and were limited by self-report.
Reversal of Iris Heterochromia in Adult-Onset Acquired Horner Syndrome
Authors: Padungkiatsagul Tanyatuth , Leishangthem Lakshmi , Moss Heather E. 
Published: September 2020

Abstract:
Iris heterochromia is typically seen in association with congenital Horner syndrome. A man in his 40s with congenital iris heterochromia, blue in the right and brown in the left, presented with left-sided Horner syndrome. This was associated with recent change in color of his brown left iris to blue similar to the right iris. This case demonstrates a unique case of adult-onset Horner syndrome with reversal of iris heterochromia.
Estimation of COVID-19 cases in Mexico accounting for SARS-CoV-2 RT-PCR false negative results
Authors: Núñez Isaac J. , Belaunzarán-Zamudio Pablo F. , Caro-Vega Yanink 
Published: September 2020

ABSTRACTUnderestimation of the number of cases during the COVID-19 pandemic has been a constant concern worldwide. Case confirmation is based on identification of SARS-CoV-2 RNA using real time polymerase chain reaction (RT-PCR) in clinical samples. However, these tests have suboptimal sensitivity, especially during the early and late course of infection. Using open data, we estimated that among 1 343 730 people tested in Mexico since February 27th, there were 838 377 (95% CL 734 605 – 1 057 164) cases, compared with 604 376 considering only positive tests. ICU admissions and deaths were around 16% and 9% higher than reported. Thus, we show that accounting for the sensitivity of SARS-Cov-2 RT-PCR diagnostic tests is a simple way to improve estimations for the true number of COVID-19 cases in tested people, particularly in high-prevalence populations. This could aid to better inform public health measures and reopening policies.
Strong ‘functional’ divergence of tropical reef fish assemblages along the global diversity gradient
Authors: Parravicini V , Bender MG , Villéger S , Leprieur F , Pellissier L , Donati GFA , Floeter SR , Rezende EL , Mouillot D , Kulbicki M 
Published: September 2020

AbstractCoral reefs are experiencing declines due to climate change and local human impacts. While at local scale biodiversity loss induces shifts in community structure, previous biogeographical analyses recorded consistent taxonomic structure of fish communities across global coral reefs. This suggest that regional communities represent a random subset of the global species and traits pool, whatever their species richness. Using distributional data on 3,586 fish species and latest advances in species distribution models we show that the global distribution of reef fishes is influenced by two major traits (body size and diet) and produces a strong divergence in the trait structure of assemblages across the biodiversity gradient. This divergence is best explained by the isolation of reefs during past unfavorable climatic conditions and highlights the risk of a global community re-organization if the ongoing climate-induced reef fragmentation is not halted.
Characterization and expression QTL analysis ofTaABI4, a pre-harvest sprouting related gene in wheat
Authors: Xiao Chunsheng , Liu Yujiao , Chen Wenshuai , Yang Jian , Cheng Mengping , Watt Calum , Cheng Jingye , Wang Zhenzhong , Tan Zhi , Li MaoLian , Wang Jirui 
Published: September 2020

AbstractPre-harvest sprouting (PHS) induced by the decline of seed dormancy causes a severe reduction in crop yield and flour quality. In this study, we isolated and characterizedTaABI4,an ABA-responsive transcription factor that participates in regulating seed germination in wheat. Sequence analysis revealed thatTaABI4has three homologues, located on chromosomes 1A/1B/1D. TaABI4 contains a conserved AP2 domain, and AP2-associated, LRP, and potential PEST motifs. Putativecis-acting regulatory elements (CE1-like box, W-box, ABRE elements, and RY-elements) were identified in theTaABI4promoter region that showed high conservation in 17 wheat cultivars and wheat-related species. Expression profiling ofTaABI4indicated that it is a seed-specific gene accumulating during the middle stages of seed development. Transcript accumulation ofTaABI4in wheat cultivar Chuanmai 32 (CM32, PHS susceptible) was 5.07-fold and 1.39-fold higher than that in synthetic hexaploidy wheat SHW-L1 (PHS resistant) at 15DPA and 20DPA, respectively. Six expression quantitative trait loci (eQTL) ofTaABI4on chromosome 2A, 2D, 3B, and 4A were characterized based on the accumulated transcripts ofTaABI4in SHW-L1 and CM32 derived recombinant inbred lines. These QTLs explained from 10.7% to 46.1% of the trait variation with 4.53~10.59 of LOD scores, which contain genes that may affect the expression ofTaABI4.
Morphometric and Functional Brain Connectivity Differentiates Chess Masters from Amateur Players
Authors: RaviPrakash Harish , Anwar Syed Muhammad , Biassou Nadia M. , Bagci Ulas 
Published: September 2020

ABSTRACTA common task in brain image analysis includes diagnosis of a certain medical condition wherein groups of healthy controls and diseased subjects are analyzed and compared. On the other hand, for two groups of healthy participants with different proficiency in a certain skill, a distinctive analysis of the brain function remains a challenging problem. In this study, we develop new computational tools to explore the functional and anatomical differences that could exist between the brain of healthy individuals identified on the basis of different levels of task experience/proficiency. Towards this end, we look at a dataset of amateur and professional chess players, where we utilize resting-state functional magnetic resonance images to generate functional connectivity (FC) information. In addition, we utilize T1-weighted magnetic resonance imaging to estimate morphometric connectivity (MC) information. We combine functional and anatomical features into a new connectivity matrix, which we term as thefunctional morphometric similarity connectome(FMSC). Since, both the FC and MC information is susceptible to redundancy, the size of this information is reduced using statistical feature selection. We employ off-the-shelf machine learning classifier, support vector machine, for both single- and multi-modality classifications. From our experiments, we establish that the saliency and ventral attention network of the brain is functionally and anatomically different between two groups of healthy subjects (chess players). We argue that, since chess involves many aspects of higher order cognition such as systematic thinking and spatial reasoning and the identified network is task-positive to cognition tasks requiring a response, our results are valid and supporting the feasibility of the proposed computational pipeline. Moreover, we quantitatively validate an existing neuroscience hypothesis that learning a certain skill could cause a change in the brain (functional connectivity and anatomy) and this can be tested via our novel FMSC algorithm.
On the Mathematics of RNA Velocity I: Theoretical Analysis
Authors: Li Tiejun , Shi Jifan , Wu Yichong , Zhou Peijie 
Published: September 2020

AbstractThe RNA velocity provides a new avenue to study the stemness and lineage of cells in the development in scRNA-seq data analysis. Some promising extensions of it are proposed and the community is experiencing a fast developing period. However, in this stage, it is of prime importance to revisit the whole process of RNA velocity analysis from the mathematical point of view, which will help to understand the rationale and drawbacks of different proposals. The current paper is devoted to this purpose. We present a thorough mathematical study on the RNA velocity model from dynamics to downstream data analysis. We derived the analytical solution of the RNA velocity model from both deterministic and stochastic point of view. We presented the parameter inference framework based on the maximum likelihood estimate. We also derived the continuum limit of different downstream analysis methods, which provides insights on the construction of transition probability matrix, root and endingcells identification, and the development routes finding. The overall analysis aims at providing a mathematical basis for more advanced design and development of RNA velocity type methods in the future.
Infectious myonecrosis virus (IMNV) and decapod iridescent virus 1 (DIV1) detected inPenaeus monodonfrom the Indian Ocean
Authors: Srisala Jiraporn , Sanguanrut Piyachat , Laiphrom Saensook , Siriwattano Jittima , Khudet Juthatip , Thaiue Dararat , Powtongsook Sorawit , Flegel Timothy W. , Sritunyalucksana Kallaya 
Published: September 2020

ABSTRACTInfectious myonecrosis virus (IMNV) was first discovered in the Americas in 2004 as a new lethal pathogen of cultivated whiteleg shrimpPenaeus vannamei, but infections were not lethal for the giant tiger shrimpPenaeus monodon. In 2007, it was reported in diseasedP. vannameicultivated in Indonesia but, until recently, not from other countries in Asia. Decapod iridescent virus (DIV1) was first reported from China in 2016 and is lethal for the crayfishCherax quadricarinatusandProcambarus clarkii, for the penaeid shrimpP. vannameiandP. chinensisand for the palaemonid shrimpMacrobrachium rosenbergiiandExopalaemon carinicauda. It has not yet been reported from other Asian countries. Here we describe the occurrence of positive test results for IMNV and DIV1 using polymerase chain reaction (PCR) technology during screening of grossly normal, broodstock-size, wildP. monodoncaptured from the Indian Ocean and held in a biosecurity facility for screening. Amplicons for each virus were obtained from two widely separated targets in the relevant viral genomes listed at GenBank, and sequencing revealed 99-100% identity to the targets for each virus. Based on these results, the captured specimens were destroyed. The results raised the possibility that grossly normal, capturedP. monodonmight serve as potential vehicles for introduction of IMNV and/or DIV1 to shrimp hatcheries and farms. Thus, we recommend that appropriate precautions be taken to avoid this possibility.
Co-editingPINK1andDJ-1genes via AAV-delivered CRISPR/Cas9 system in adult monkey brains elicits classic Parkinsonian phenotypes
Authors: Li Hao , Wu Shihao , Ma Xia , Li Xiao , Cheng Tianlin , Chen Zhifang , Wu Jing , Lv Longbao , Li Ling , Xu Liqi , Wang Wenchao , Hu Yingzhou , Jiang Haisong , Yin Yong , Qiu Zilong , Hu Xintian 
Published: September 2020

AbstractWhether direct manipulation of Parkinson’s disease (PD) risk genes in monkey brain can elicit Parkinsonian phenotypes remains an unsolved issue. Here, we employed an adeno-associated virus (AAV)-delivered CRISPR/Cas9 system to directly co-editPINK1andDJ-1genes in the substantia nigra (SN) region of four adult monkey brains. After the operation, two of the monkeys exhibited all classic PD symptoms, including bradykinesia, tremor, and postural instability, accompanied by severe nigral dopaminergic neuron loss (over 60%) and α-synuclein pathology. The aged monkeys were more vulnerable to gene editing by showing faster PD progression, higher final total PD scores, and severer pathologic changes compared with their younger counterparts, suggesting both the genetic and aging factors played important roles in PD development. This gene editing system can be used to develop a large quantity of genetically edited PD monkeys over a short period, thus providing a practical transgenic monkey model for future PD studies.
Sec22b regulates inflammatory responses by controlling the nuclear translocation of NF-κB
Authors: Arango Duque Guillermo , Dion Renaud , Fabié Aymeric , Descoteaux Julien , Stäger Simona , Descoteaux Albert 
Published: September 2020

AbstractSoluble NSF attachment receptor (SNARE) proteins regulate the vesicle transport machinery in phagocytic cells. Within the secretory pathway, Sec22b is an ER-Golgi intermediate compartment (ERGIC)-resident SNARE that controls phagosome maturation and function in macrophages and dendritic cells. The secretory pathway controls the release of cytokines and may also impact the secretion of nitric oxide (NO), which is synthesized by the Golgi-active inducible nitric oxide synthase (iNOS). Whether ERGIC SNARE Sec22b controls NO and cytokine secretion, is unknown. Using bone marrow-derived dendritic cells (BMDC), we demonstrated that iNOS colocalizes with ERGIC/Golgi markers, notably Sec22b and its partner syntaxin-5 (Stx5), in the cytoplasm and at the phagosome. Pharmacological blockade of the secretory pathway hindered NO and cytokine release, and inhibited NF-κB translocation to the nucleus. Importantly, RNAi-mediated silencing of Sec22b revealed that NO and cytokine production were abrogated at the protein and mRNA levels. This correlated with deregulated mitogen-activated protein kinase signalling and reduced nuclear translocation of NF-κB. We also found that Sec22b co-occurs with NF-κB in both the cytoplasm and nucleus, pointing to a role for this SNARE in the shuttling of NF-κB. Collectively, our data unveiled a novel function for the ER-Golgi, and its resident SNARE Sec22b, in the production and release of inflammatory mediators.