bluuebunny/crossref_metadata_2025_split huggingface dataset:
Maternal Uniparental Isodisomy of Chromosome 2 Leading to Homozygous Variants in SPR and ZNF142: A Case Report and Review of the UPD2 Literature
Authors: Kelkar Janhawi , DiMaio Miriam , Ma Deqiong , Zhang Hui 
Published: March 2024

AbstractWe report a 4-year-old girl with neurodevelopmental abnormalities who has maternal uniparental isodisomy of chromosome 2 leading to homozygosity for a likely pathogenic variant in SPR, and a variant of uncertain significance in ZNF142. Biallelic pathogenic variants in SPR lead to sepiapterin reductase deficiency (SRD), a dopa-responsive dystonia. Pathogenic variants in ZNF142 are associated with an autosomal recessive neurodevelopmental disorder characterized by impaired speech and hyperkinetic movements, which has significant clinical overlap with SRD. Our patient showed dramatic improvement in motor skills after treatment with levodopa. We also reviewed 67 published reports of uniparental disomy of chromosome 2 (UPD2) associated with various clinical outcomes. These include autosomal recessive disorders associated with loci on chromosome 2, infants with UPD2 whose gestations were associated with confined placental mosaicism for trisomy 2 leading to intrauterine growth restriction with good postnatal catchup growth, and normal phenotypes in children and adults with an incidental finding of either maternal or paternal UPD2. These latter reports provide support for the conclusion that genes located on chromosome 2 are not subject to imprinting. We also explore the mechanisms giving rise to UPD2.
Stress and Disease: A Psychobiological Perspective
Authors: Dantzer Robert 
Published: March 2024

Abstract
The old notion that stress leads to disease via non-specific mechanisms impinging on fragilized target organs must be revised. Based on animal studies, it is proposed that the organism is equipped with a number of encapsulated defense systems that are triggered by specific exteroceptive or interoceptive stimuli leading to defense reactions involving intricate relationships between physiological and behavioral responses. The exteroceptive defense system is aroused by external dangers that threaten the organism's psychological and physical integrity. Its output consists of a set of species-specific reactions which are hierarchically organized depending on the nature and intensity of the stressors and the individual's ability to predict and control them. The interoceptive defense system is activated by ingested poisons. Its output consists of a set of orofacial, gastrointestinal and hormonal responses which enable the organism to get rid of the poisonous food before or after it has been swallowed and to attenuate its effects. The immunoceptive defense system is triggered by non-self antigens. Its output consists of a set of local and systemic responses which aim at overcoming the disease process. Although these different defense systems normally function independently from each other, they can interact because of some commonality in their underlying neural mechanisms and because of competition for a final common behavioral pathway. The study of how information is processed within each system and how different systems can interact with each other gives new insights about the pathophysiology of stress-related diseases.
Daily Assessments of Stress and Coping and Their Association with Mood
Authors: Stone Arthur A. , Neale John M. , Shiftman Saul 
Published: March 2024

Abstract
This article reviews the evidence that measures of daily stress and coping relate to daily mood. Several conceptualizations of daily stress exist, ranging from single-item perceived stress scales to complex-event checklists. Only one daily coping questionnaire is currently available. A strong finding in the studies reviewed is that there is a same-day association between stress, regardless of how it is measured, and mood. However, usually only a subset of subjects with strong stress-mood relationships produce the overall association. While appraisals of particular characteristics of event experience improve the association slightly, simple counts of events do remarkably well. Day-of the-week is shown to have a strong effect on mood, and this pattern may be caused by fluctuations in types of daily events. The evidence is mixed, though more negative than positive, regarding the effects of stressors on next-day mood. Several moderators of the stress-mood relationship have been identified, and this is an area that deserves greater attention. Efforts to cope with daily stressors have also been related to daily mood, and coping methods are differentially associated with positive and negative moods. Going beyond end-ofiday reports, recent relationships between momentary reports of mood and stress are presented.
May Measurement Month 2021: an analysis of blood pressure screening results from Ecuador
Authors: Peñaherrera Ernesto , Ramírez Maria , Peñaherrera Rubén , Duarte Yan C , Cáceres Silvia , Avila Elisa , Jarrin Estefania , Ullauri Vladimir , Aucancela Hugo , Bayas Miguel , Oña Freddy , Arteaga Fabricio , Ruales Jose , Toopchiani Sima , Schlaich Markus , Poulter Neil R , Beaney Thomas , Liendo Kisbel 
Published: March 2024

Abstract
Arterial hypertension is a growing burden worldwide, leading to over 10.8 million deaths each year. Before the outbreak of the COVID-19 pandemic, cardiovascular diseases were the main cause of death in Ecuador. Hypertension is the main risk factor for the major cause of death, coronary and cerebrovascular disease. The 2021 May Measurement Month Campaign (MMM21) is a global initiative by the International Society of Hypertension aimed at raising awareness of high blood pressure (BP) and to provide a temporary solution for opportunistic screening until more systematic approaches can be established. A cross-sectional survey was carried out in May 2021 across 22 health centres in Ecuador. The average age of participants was 44.7 ± 15.8 years. Blood pressure measurement, the deﬁnition of hypertension (mean of the 2nd and 3rd BP measurements ≥ 140/90 mmHg or on medication for high BP), and statistical analysis followed the standard MMM protocol. In total, 1326 volunteers participated in MMM21. After multiple imputation of missing BP readings, 423 (31.9%) had hypertension. Of those, 70.5% were receiving antihypertensive medication. Of individuals receiving antihypertensive medication, 50.0% had uncontrolled BP. Overall, of 423 participants with hypertension, only 35.2% had their BP controlled (&lt;140/90 mmHg). MMM21 demonstrated a high prevalence of hypertension in Ecuador during the COVID-19 pandemic. It was the largest BP screening campaign done in Ecuador thus far. The high percentage of persons untreated or with uncontrolled hypertension while on pharmacologic treatment suggests that appropriate screening can help to identify a signiﬁcant number of people with elevated BP and those inadequately treated. These data should attract the attention of doctors and health care providers in Ecuador.
A genetic cline shapes population structure of the round sardinella along its West African distribution
Authors: Chlaida Malika , Quintela María , Øyro Johanne , Dahle Geir , Sbiba Salaheddine , Lemrabott Sidi Yahya Cheikhna , Taggart John , Nikolioudakis Nikolaos , Jurado-Ruzafa Alba 
Published: March 2024

Abstract
Small pelagic fish play an important role in marine trophic webs and human food security. Among those, Sardinella aurita represents an extremely valuable resource in West Africa, where it is assumed to conform a transboundary stock. During the last decade, quantitative stock assessment has not been possible in NW African waters due to the limitation of the indices used; however, a critical biomass decline has been observed, and the stock is considered overexploited. In order to delineate the population structure of the species in West Africa, twelve microsatellites were developed ad hoc and genotyped on some 1300 individuals collected from Morocco to Angola. The significant differentiation detected between the northernmost samples (Morocco to Guinea) and the southernmost ones (Liberia to Angola) was due to one candidate locus to positive selection. The signal of this locus resided uniquely in the frequency of allele SauMS002_131, which displayed a remarkable latitudinal cline. Allele frequency, starting around 47%–63% in Moroccan-Guinean waters and dropping to 0% off Gabon and southwards, accounts for the North–South declining trend and can be used as a meaningful tool to assist population structure outline for this species in West Africa for management purposes in order to ensure sustainable regionally shared fisheries.
Clinical Outcomes in Traumatic Penetrating Keratoplasty Graft Dehiscence
Authors: Fan Jason , Hudson Julia L. , Shetty Akaanksh , Tonk Rahul , Flynn Harry W. 
Published: March 2024

Purpose:
The purpose of this study was to report clinical characteristics and outcomes of surgical repair for patients with traumatic dehiscence of penetrating keratoplasty (PKP) grafts.

Methods:
Retrospective, consecutive chart review of patients evaluated at Bascom Palmer Eye Institute between 2015 and 2020 with traumatic dehiscence of penetrating keratoplasty grafts.

Results:
The study cohort consisted of 65 eyes of 65 patients. The mean age at presentation was 72 years (SD 18), with a male predominance (65%). The most common indications for PKP included keratoconus (42%), corneal scar (31%), and Fuchs corneal dystrophy (8%). Dehiscence occurred as a result of blunt trauma in 94% of cases, and the mean wound length was 6.4 clock hours (SD 2.4), with a predominance of inferior dehiscence. The mean presenting visual acuity (VA) was 2.45 logMAR (SD 0.41), and the mean final VA was 2.17 logMAR (SD 0.99). Graft failure occurred in 64% of patients, and 22% underwent repeat PKP. When stratified by indication for corneal transplantation (keratoconus vs. other), there was no significant difference in graft age at the time of rupture, final VA, rate of graft failure, or rate of repeat PKP.

Conclusions:
Traumatic dehiscence of corneal grafts remains a rare but serious subtype of ocular trauma with generally poor visual prognoses. Presenting VA along with severity of trauma and posterior segment involvement tend to be the worst prognostic factors in final visual outcome.
The Association Between Social Determinants of Health, Risk Factors, Job Performance, and Health Care Costs in an Employed Population
Authors: Burton Wayne N. , Schultz Alyssa B. , Shepherd Martha E. , Hines David 
Published: March 2024

ObjectiveThe aim of the study is to compare employees of a US school district based on their social determinants of health (SDoH).Methods:Employees (N= 5006) were categorized into low-, medium-, or high-need SDoH tiers. Of them,n= 2469 also participated in a health risk appraisal in 2019. Subjects’ average health care costs, health risk factors, and self-rated job performance were compared by SDoH tier and race.Results:Significant differences were observed among the SDoH comparison groups regarding age, gender, race, and marital status. SDoH was associated with health care costs, number of health risk factors, and self-rated job performance differently for Black and White employees.Conclusions:SDoH are complex and multifaceted. Black employees in the high-need SDoH group had higher average health care costs, lower self-rated job performance, and more average health risk factors than subjects in the lower need tiers.
Conservative Airway Management Successful in Majority of Infants With Pierre-Robin Sequence at Queensland Children’s Hospital: A Retrospective Review
Authors: Theile Harrison , Phua Yun , Bade Stuart , O’Mahony Susan , Chawla Jasneek , Suresh Sadasivam , Theile Richard 
Published: March 2024

Purpose:
Pierre-Robin Sequence (PRS) is a congenital abnormality characterized by micrognathia, glossoptosis, and variable severity upper airway obstruction. Clear management algorithms are lacking, particularly the indications for surgical versus nonsurgical intervention. The authors reviewed the management of these children in Queensland.

Methods:
All children diagnosed with PRS at Queensland Children’s Hospital from April 2014 to October 2019 were identified (n=45), and their charts were retrospectively reviewed. Three management patterns emerged: prone/lateral positioning, nasopharyngeal airway (NPA) use, and surgery (tracheostomy or mandibular distraction).

Results:
Most children (n=30; 67%) were managed successfully nonsurgically with an NPA (median age of insertion 0.25 mo, median duration 5.0 mo). Of these, 12 patients (40%) also required supplemental oxygen. The median age of NPA cessation was 5.5 months, with oxygen therapy ceasing at a median 8.25 months, upon which no further support was required. The remaining majority (n=13; 29%) of children were managed without an NPA, using positioning alone (10/13; 77%) or positioning combined with supplemental oxygen (1/13), CPAP (1/13), or both adjunct measures (1/13). Only 2 patients underwent surgical intervention. Feeding supplementation using nasogastric tube was necessary in 78% of patients for a median duration of 4 months. Cleft palate co-existed in all but one patient.

Conclusion:
Management of upper airway obstruction in PRS children is variable between units. Over a 5-year period, 96% of children with PRS were successfully managed without surgical intervention at the Queensland Children’s Hospital. These findings contrast with some other literature and may suggest that more careful consideration of surgical intervention in PRS patients is prudent.
The Pulfrich Effect in Virtual Reality
Authors: Loprete Anthony , Shapiro Arthur G. 
Published: March 2024

The Pulfrich effect, a visual phenomenon where a neural delay in one eye produces a depth misperception, has been directly studied on flat-panel displays but not in virtual reality (VR) environments. Through a series of three experiments, we investigated the relationship between luminance, contrast, dot spacing, and optical blur on the Pulfrich effect in VR and on the perception of motion. In the first two experiments, we found that low-reflectance stimuli produce a stronger Pulfrich effect than high-reflectance stimuli in VR, a result further accentuated by background luminance. Furthermore, the primary experiment showed that nullifying helix rotation motion is a powerful way to study the magnitude of the Pulfrich effect. With data from the first experiment, we developed a compelling VR illusion in which changing the color of a helix reverses the direction of perceived motion. Experiment 2 elaborated that low-reflectance stimuli only produce a stronger Pulfrich effect than high-reflectance stimuli when the stimulus is moving away from the delayed eye. Data from the first two experiments were successfully captured by power law function fits and linearized by plotting Pulfrich effect strength against logit-Michelson contrast. Our third experiment revealed that increasing blur and dot count in the helix stimulus increased the likelihood of perceiving up or down motion. All three experiments in tandem show that investigating well-known visual illusions such as the Pulfrich effect in virtual reality has the potential to reveal insights into visual perception as well as inform us about the effects of contrast and asymmetric lighting in spatial computing.CCS Concepts: •Computing methodologies→Perception;Virtual reality.
OmicsFootPrint: a framework to integrate and interpret multi-omics data using circular images and deep neural networks
Authors: Tang Xiaojia , Prodduturi Naresh , Thompson Kevin J. , Weinshilboum Richard , O’Sullivan Ciara C. , Boughey Judy C. , Tizhoosh Hamid R. , Klee Eric W. , Wang Liewei , Goetz Matthew P. , Suman Vera , Kalari Krishna R. 
Published: March 2024

AbstractThe OmicsFootPrint framework addresses the need for advanced multi-omics data analysis methodologies by transforming data into intuitive two-dimensional circular images and facilitating the interpretation of complex diseases. Utilizing Deep Neural Networks and incorporating the SHapley Additive exPlanations (SHAP) algorithm, the framework enhances model interpretability. Tested with The Cancer Genome Atlas (TCGA) data, OmicsFootPrint effectively classified lung and breast cancer subtypes, achieving high Area Under Curve (AUC) scores— 0.98±0.02 for lung cancer subtype differentiation, 0.83±0.07 for breast cancer PAM50 subtypes, and successfully distinguished between invasive lobular and ductal carcinomas in breast cancer, showcasing its robustness. It also demonstrated notable performance in predicting drug responses in cancer cell lines, with a median AUC of 0.74, surpassing nine existing methods. Furthermore, its effectiveness persists even with reduced training sample sizes. OmicsFootPrint marks an enhancement in multi-omics research, offering a novel, efficient, and interpretable approach that contributes to a deeper understanding of disease mechanisms.
Escherichia coliadaptation under prolonged resource exhaustion is characterized by extreme parallelism and frequent historical contingency
Authors: Zion Shira , Katz Sophia , Hershberg Ruth 
Published: March 2024

AbstractLike many other non-sporulating bacterial species,Escherichia coliis able to survive prolonged periods of resource exhaustion, by entering a state of growth called long-term stationary phase (LTSP). In July 2015, we initiated a set of evolutionary experiments aimed at characterizing the dynamics ofE. coliadaptation under LTSP. In these experiments populations ofE. coliwere allowed to initially grow on fresh rich media, but where not provided with any new external growth resources since their establishment. Utilizing whole genome sequencing data obtained for hundreds of clones sampled at 12 time points spanning the first six years of these experiments, we reveal several novel aspects of the dynamics of adaptation. First, we show thatE. colicontinuously adapts genetically, up to six years under resource exhaustion, through the highly convergent accumulation of mutations. We further show that upon entry into LTSP, long-lasting lineages are established. This lineage structure is in itself convergent, with similar lineages arising across independently evolving populations. The high parallelism with which adaptations occur under LTSP, combined with the LTSP populations’ lineage structure, enable us to screen for pairs of loci displaying a significant association in the occurrence of mutations, suggestive of a historical contingency. We find that such associations are highly frequent and that a third of convergently mutated loci are involved in at least one such association. Combined our results demonstrate that LTSP adaptation is characterized by remarkably high parallelism and frequent historical contingency.Author summaryCharacterizing the dynamics by which adaptation occurs is a major aim of evolutionary biology. Here, we study these dynamics in five populations ofEscherichia coli, independently evolving over six years under conditions of resource exhaustion. We show that even under very prolonged resource exhaustion bacteria continuously genetically adapt. Within our populations long lasting lineages are established, each of which undergoes independent and continuous adaptation. We demonstrate that bacterial adaptation under resource exhaustion is both highly convergent – meaning that same adaptive mutations occur across independently evolving populations and lineages, and frequently historically contingent – meaning that the adaptive nature of many of the adaptations we see depends on the previous occurrence of other adaptations.
Evidence for common spike-based temporal coding of overt and covert speech in pars triangularis of human Broca’s area
Authors: Roussel Philémon , Bocquelet Florent , Chabardès Stéphan , Yvert Blaise 
Published: March 2024

ABSTRACTBroca’s area has long been described as a central region of cortical speech networks. Yet, its detailed role during speech production remains largely unknown and even sometimes debated. Recordings at the individual neuron level could help understand whether and how speech is encoded in this region but such data remain very scarce. Here we use direct intracortical recording inpars triangularisof human Broca’s area to show that the encoding of speech in this region relies not only on spike rates but also on the precise timing of action potentials within individual spike trains. First, we found that the overall spike rate of the whole population remained unchanged between periods of rest, overt and covert speech, but that individual firing rates of a few neurons fluctuated across these conditions. These fluctuations resulted in different overall population dynamics across conditions. Next, we also observed that the temporal arrangement of spikes within individual spike trains was not purely random but also signed which sentence was produced. By matching ensemble spike trains based on inter-spike intervals, it was possible to decode which sentence had been pronounced well above chance and with a comparable accuracy than when using spike counts. Moreover, the temporal code characterizing the overt production of individual sentences was found to be largely conserved when the same sentences were covertly imagined and enabled to decode cover sentences with an accuracy 75% higher than when considering spike counts. Altogether, these results suggest the existence of 2 modes of speech encoding in Broca’s area, one based on the modulation of individual firing rates and the other based on the precise temporal structure of individual spike trains, and that the latter type of encoding remains more largely conserved between overt and covert speech production.