bluuebunny/crossref_metadata_2025_split huggingface dataset:
Hemifacial microsomia is linked to a rare homozygous variant V162I in FRK and validated in zebrafish
Authors: Xiong Jianjun , Wang Xi , Fan Chunxin , Yan Jizhou , Zhu Jinwen , Cai Tao 
Published: September 2022

AbstractObjectivesHemifacial microsomia (HFM) is a common birth defect involving the first and second branchial arch derivatives. Although several chromosomal abnormalities and causal gene variants have been identified, genetic etiologies in a majority of cases with HFM remain unknown. This study aimed to identify genetic mutations in affected individuals with HFM.MethodsWhole‐exome sequencing and bioinformatics analysis were performed for 16 affected individuals and their family members. Sanger sequencing was applied for confirmation of selected mutations. Zebrafish embryos were used for in situ hybridization of candidate gene, microinjection with antisense morpholino, and cartilage staining.ResultsA homozygous missense mutation (c.484G > A; p.V162I) in the FRK gene was identified in an 18‐year‐old girl with HFM and dental abnormalities. Heterozygous mutation of this mutation was identified in her parents, who are first cousins in a consanguineous family. FRK is highly expressed in the Meckel's cartilage during embryonic development in mouse and zebrafish. Knockdown of frk in zebrafish showed a lower length and width ratio of Meckel's cartilage, abnormal mandibular jaw joint, and disorganized ceratobranchial cartilage and bone.ConclusionsWe identified a recessive variant in the FRK gene as a novel candidate gene for a patient with HFM and mandibular hypoplasia and revealed its effects on craniofacial and embryonic development in zebrafish.
Recognizing the blurred boundary between health‐related support and control in close relationships
Authors: Burke Tricia J. , Young Valerie J. , Duggan Ashley 
Published: September 2022

AbstractIn this review, we analyze the blurred boundary – or conceptual convergence – between health‐related social support and social control in close relationships. We begin with a brief overview of research on social support, defined as the provision of assistance or influence to help a close other achieve a health‐related goal or cope with illness related stressors, and social control, refers to communication intended to evoke health behavior change from a relational partner. We then disentangle the conceptualization and measurement of communication as social support and as social control over the last two decades. In articulating the conceptual convergence between social support and social control, we illustrate several patterns regarding what is being researched, how research has been conducted, and who is involved in existing research, thereby shedding light on the dynamics of power and privilege in conceptual and operational assumptions regarding these constructs in the literature. In addition, we propose ways for future scholarship to reflect more diverse methods, topics, and populations.
Different inoculum of Leishmania braziliensis concentrations influence immunopathogenesis and clinical evolution in the ear dermis hamster model of cutaneous leishmaniasis
Authors: de Paula Freire Rafaelle , Fonseca Francisco Rafael Marciano , de Castro Naya Lúcia Rodrigues , Lima Carrel Xavier Martins , Ribeiro‐Romão Raquel Peralva , Cavalcante Diane Isabelle Magno , Teixeira Clarissa Romero , Gomes Regis , Da‐Cruz Alda Maria , Teixeira Maria Jania 
Published: September 2022

AbstractThe golden hamster (Mesocricetus auratus) is commonly used as a promising model for Leishmania braziliensis infection developing skin‐ulcerated lesions. However, different protocols using high concentration of parasites inoculated in the footpad result in severe clinical disease. Here, we further investigate the outcome of the site of infection and concentration of L. braziliensis parasites inoculated on the immunopathogenesis and clinical evolution. Initially, hamsters were infected in the ear dermis or hind footpad with a concentration of 1 × 105 parasites. Animals infected in the ear dermis developed a disease, with an increased parasite load that more closely resembled human cutaneous leishmaniasis lesions comparing to the group infected in the footpad. Next, we evaluated if different parasite concentrations (104, 105 and 106) inoculated in the ear dermis would impact the course and clinical aspects of infection. Hamsters infected with 104 and 105 parasites developed mild lesions compared to the group infected with 106 that presented severe and persistent lesions. The parasite load varied between the different parasite concentrations. The inflammatory response was more intense when infection was initiated with 106 parasites accompanied by an increased initial expression of IL‐4, IL‐10 and arginase in the lymph node followed by expression of both pro‐and anti‐inflammatory cytokines comparing to groups infected with 104 and 105 parasites. In conclusion, the number of parasites inoculated, and the initial site of infection could influence the inflammatory response, and clinical presentation. Our results suggest that the ear dermis infection model induces a chronic disease that relates to immunopathological aspects of CL natural infection.
Equality for all? Support for equal opportunity among professors in Europe
Authors: Bourabain Dounia , Verhaeghe Pieter‐Paul 
Published: September 2022

AbstractEqual Opportunity programs (EO) continue to be at the center of the debate about promoting equality in higher education. While support for EO has been well‐studied in American higher education, this research is the first to investigate the attitudes towards and support for a range of EO policies among professors in Europe. We specifically examine faculty support for seven different EO measures used in European universities that require varying levels of involvement and commitment. From a sample of 689 professors, findings show that women professors tend to show more support for all EO programs compared to men professors. We also see differences across disciplines. Professors from the humanities and social sciences are more likely to endorse such programs than their counterparts in STEM disciplines. Moreover, the differences across disciplines and gender decrease substantially when controlling for racial and gender attitudes. Finally, soft/differential programs, which prioritize merit but take group membership into account are preferred over hard/preferential programs which prioritize achieving equality by targeting members from marginalized groups. This research is innovative for its geographical location, sample of study, and range of included measures.
Menstrual hygiene management inequalities among school girls in Badagry, Nigeria
Authors: Uwadia Ruth C. , Oloruntoba Elizabeth O. , Wada Ojima Z. , Aluko Olufemi O. 
Published: September 2022

AbstractObjectivesThe study assessed menstrual hygiene management (MHM) inequalities among public and private in‐school adolescents in Badagry, southwest Nigeria. Also assessed was the impact of available water, sanitation and hygiene (WASH) facilities on MHM within the school premises.MethodsFor this descriptive cross‐sectional study, 420 students were selected via multi‐stage sampling and data were obtained via a validated semi‐structured questionnaire and observational checklist. Data were analysed at 95% confidence limit.ResultsThe students had a mean age of 15.3 ± 1.6 years. All the private schools had functioning WASH facilities whereas only 50% of public schools did. The toilet to student ratios for the private and public schools were 1:155 and 1:296, respectively. Over two‐thirds (67.1%) of the students reportedly use sanitary napkins for MHM, followed by tissue (17.1%) and clothes (15.5%). Additionally, the private school students were two times less likely to use alternatives to sanitary napkins and 9.8 times more likely to obtain sanitary materials at school if required (p < 0.001). A significantly higher proportion of public‐school menstruating in‐school adolescents changed their sanitary towels in the bush (p = 0.003) due to lack of privacy and took their used sanitary materials home (p < 0.001) for management due to reduced access to sanitary bins.ConclusionEven though the situation in the public schools was worse, both public and private schools lack the enabling environment for MHM. School health promotion interventions, such as provision of subsidised/affordable menstrual pads and basic WASH facilities and campaigns to break the culture of silence are required for the wellbeing of girls.
Model‐Based Explanation of Feedback Effects in Syllogistic Reasoning
Authors: Brand Daniel , Riesterer Nicolas , Ragni Marco 
Published: September 2022

AbstractFor decades, a significant number of models explaining human syllogistic inference processes were developed. There is profound work fitting the models' parameters and analyzing each model's ability to account for the data in order to support or reject the underlying theories. However, the model parameters are rarely used to extract explanations and hypotheses for phenomena that go beyond the original scope of the models. In this work, we apply three state‐of‐the‐art models, the probability heuristics model (PHM), mReasoner, and TransSet, to data from reasoning experiments where participants received feedback for their conclusions. We derived hypotheses based on the models' explanations for the feedback effect and put these to the test by conducting an experiment targeting the hypotheses. The work contributes to the field in three ways: (a) the feedback effect could be replicated and was shown to be a robust effect; (b) we demonstrate the use of the model parameters in order to derive new hypotheses; (c) we present possible explanations for the feedback effect based on existing theories.
Fractionated oral dosing and its effect on cyclophosphamide pharmacokinetics in dogs with high‐grade multicentric lymphoma
Authors: Veluvolu Sridhar , Willcox Jennifer L. , Skorupski Katherine A. , Al‐Nadaf Sami , Rebhun Robert , Wittenburg Luke 
Published: September 2022

AbstractCyclophosphamide (CP) is an alkylating agent commonly included in multi‐drug treatment protocols for canine cancer. As a prodrug, CP requires hepatic metabolism for activation to the intermediate compound 4‐hydroxycyclophosphamide (4‐OHCP) which then spontaneously forms alkylating phosphoramide mustard. CP is frequently administered in a fractionated manner, with the total dose given over multiple days. CP is reported to cause auto‐induction of metabolism in humans, with faster CP clearance and relatively increased 4‐OHCP formation following fractionated versus bolus dosing, however canine pharmacokinetic studies of CP dose fractionation are lacking. The study objective was to evaluate the pharmacokinetics of fractionated oral CP dosing at a dose of 200–250 mg/m2over 3 to 4 days in a prospectively identified population of cancer‐bearing dogs. Plasma concentrations of CP and 4‐OHCP were measured by ultra‐high performance liquid chromatography tandem‐mass spectrometry in eight dogs following the first and last doses to assess for auto‐induction of CP metabolism. No significant difference in the rate of CP elimination between first and last doses were detected (0.73 ± 0.46 vs. 1.22 ± 0.5 h−1;p = .125). Additionally, no significant difference in dose‐normalized 4‐OHCP exposure was identified between first and last doses (5.9 ± 2.1 vs. 7.9 ± 6.4 h × ng/ml;p = .936). These results suggest that fractionated dosing may not increase exposure to the active metabolite of CP in dogs as it does in humans. As such, standard bolus dosing and fractionated dosing may be equivalent in terms of bio‐activation of CP in dogs administered a dose of 200–250 mg/m2.
An eye on the Shih Tzu dog: Ophthalmic examination findings and ocular surface diagnostics
Authors: Sebbag Lionel , Silva Ana Paula S. M. , Santos Álex P. B. , Raposo Ana Cláudia S. , Oriá Arianne P. 
Published: September 2022

AbstractObjectiveTo characterize the ocular surface parameters and determine the prevalence of ocular pathology in Shih Tzu dogs.Animal StudiedFifty Shih Tzu dogs (28 male, 22 female).ProceduresEach dog underwent a complete ophthalmic examination (recording any pathology) and a series of diagnostics, allowing for a 10 min‐interval between tests: intraocular pressure (IOP), blink rate, palpebral fissure length (PFL), corneal tactile sensation (CTS), Schirmer tear test and nasolacrimal reflex without (STT‐1, NL‐STT1) and with topical anesthesia (STT‐2, NL‐STT2), tear ferning, strip meniscometry test (SMT), tear film breakup time (TFBUT), and punctate fluorescein staining (PFS) of the cornea.ResultsMean ± SD test values were as follows: IOP (17.9 ± 3.7 mmHg), blink rate (2.4 ± 1.4 blinks/min), PFL (23.8 ± 1.8 mm), CTS (1.8 ± 0.7 cm), STT‐1 (22.0 ± 5.5 mm/min), NL‐STT1 (24.2 ± 4.7 mm/min), STT‐2 (16.9 ± 6.5 mm/min), NL‐STT2 (18.5 ± 7.5 mm/min), SMT (7.5 ± 3.5 mm/5 s), TFBUT (5.3 ± 2.4 s), tear ferning (1.3 ± 0.7), and PFS (1.6 ± 0.6). PFL was significantly greater in male vs. female Shih Tzus (p< .001). Age was negatively correlated with TFBUT results (r = −0.31, p = .027). Lagophthalmos was observed in 82% eyes. Ocular surface pathology was common, including adnexal abnormalities (100% eyes with caruncular trichiasis and medial lower lid entropion) and corneal opacification (27% pigmentation, 20% fibrosis, 12% neovascularization).ConclusionsQualitative tear film deficiency (low TFBUT), along with several anatomical abnormalities that promote ocular irritation and reduce globe protection, together help explain the concerningly high prevalence of ocular surface disease in the Shih Tzu breed. Prophylactic measures (e.g., medial canthoplasty, topical lubrication) could be considered to improve ocular health in Shih Tzus.
Preputial urethrostomy with preservation of the local anatomy in 4 dogs
Authors: Giansetto Thomas , Broux Olivier , Bolen Géraldine , Claeys Stéphanie 
Published: September 2022

AbstractObjectiveTo describe a novel modified preputial urethrostomy with preservation of the local anatomy in 4 dogs.Study designShort case series.AnimalsFour client‐owned male dogs.MethodsDogs presented for dysuria and urethral obstruction and underwent a modified preputial urethrostomy as a salvage procedure after the failure of previous treatments. Urethral stenosis or tear was confirmed by cysto‐urethrography in all dogs. The preputial urethrostomy involved anastomosis of the pelvic urethra with the preputial mucosa after caudal laparotomy, without dissection of the prepuce or amputation of the penis. Owner follow up was obtained by telephone interview.ResultsUrinary obstruction was due to urethral stenosis in 3 dogs and severe complications following perineal urethrostomy in 1 dog. The urinary obstruction was resolved in all dogs by the modified preputial urethrostomy. None of the dogs had signs of dysuria, urinary tract infection, or dermatitis immediately postoperatively. Two dogs showed signs of urinary incontinence from 15 days to 1 month postoperatively, which persisted throughout the follow‐up period.ConclusionA functional urethral stoma was obtained in all dogs. This technique may be an alternative to prepubic urethrostomy in male dogs.
Acute and Overuse, Time-Loss and Non-Time-Loss Lateral Ankle Sprains and Health Care Utilization in Collegiate Student-Athletes
Authors: Brown Cathleen N. , Bovbjerg Viktor E. , Soucy Michael T. , Choe SeokJae , Fredericson Michael , Simon Janet E. 
Published: September 2022

Context: Health care utilization and the occurrence of non-time-loss (NTL) lateral ankle sprains is not well documented in collegiate athletes but could provide better estimates of injury burden and inform clinician workload. Design: Descriptive epidemiologic study. Methods: Lateral ankle sprain injury occurrence for Division I collegiate student-athletes in a conference with 32 sports representing 732 team seasons was collected during the 2018–2019 through 2020–2021 academic years. Injuries were designated as acute or overuse, and time-loss (TL) or NTL. Associated health care utilization, including athletic training services (AT services), and physician encounters were reported along with anatomical structures involved and season of occurrence. Results: A total of 1242 lateral ankle sprains were reported over the 3 years from 732 team seasons and 17,431 player seasons, resulting in 12,728 AT services and 370 physician encounters. Most lateral ankle sprains were acute-TL (59.7%), which were associated with the majority of AT services (74.1%) and physician encounters (70.0%). Acute-NTL sprains represented 37.8% of lateral ankle sprains and were associated with 22.3% of AT services and 27.0% of physician encounters. On average, there were 12.7 (5.8) AT services per acute-TL sprain and 6.0 (3.6) per acute-NTL sprain. Most sprains involved “ankle lateral ligaments” (45.6%), and very few were attributed to overuse mechanisms (2.4%). Conclusions: Lateral ligament sprains are a common injury across many sports and result in substantial health care utilization from ATs and physicians, including NTL lateral ankle sprains. Although TL injuries were the majority of sprains, a substantial proportion of sprains were NTL and accounted for a considerable proportion of health care utilization.
Cluster Adsorption of L-Histidine on Carbon Nanotubes in Aqueous Solutions at Different Temperatures
Authors: Le D. T. , Butyrskaya E. V. , Eliseeva T. V. 
Published: September 2022

Abstract
Adsorption isotherms are obtained for L-histidine on carbon nanotubes using aqueous solutions at temperatures of 25, 35, 45, 55, 65, and 80°C. The isotherms are interpreted by using the cluster adsorption model and analyzing the dependence of the strength of the bond nanotube–amino acid on temperature. Equations of the adsorption isotherms are obtained for all temperatures. The calculated results indicate that L-histidine is fixed on a nanotube’s surface in the form of monomers and different clusters. The equilibrium characteristics of adsorption are found to change as the temperature rises. Values obtained for the coefficients of equilibrium are used to calculate apparent enthalpy ΔH* of L-histidine adsorption by nanotubes, according to the van’t Hoff equation.
Home-based hepatitis C self-testing in people who inject drugs and men who have sex with men in Georgia: a protocol for a randomised controlled trial
Authors: Shilton Sonjelle , Stvilia Ketevan , Japaridze Maia , Tsereteli Nino , Usharidze Dali , Phevadze Shota , Jghenti Miranda , Mozalevskis Antons , Markby Jessica , Luhmann Niklas , Johnson Cheryl , Nabeta Pamela , Ongarello Stefano , Reipold Elena Ivanova , Gamkrelidze Amiran 
Published: September 2022

IntroductionGlobally, it is estimated that more than three-quarters of people with chronic hepatitis C virus (HCV) are unaware of their HCV status. HCV self-testing (HCVST) may improve access and uptake of HCV testing particularly among key populations such as people who inject drugs (PWID) and men who have sex with men (MSM) where HCV prevalence and incidence are high and barriers to accessing health services due to stigma and discrimination are common.Methods and analysisThis randomised controlled trial compares an online programme offering oral fluid-based HCVST delivered to the home with referral to standard-of-care HCV testing at HCV testing sites. Eligible participants are adults self-identifying as either MSM or PWID who live in Tbilisi or Batumi, Georgia, and whose current HCV status is unknown. Participants will be recruited through an online platform and randomised to one of three arms for MSM (courier delivery, peer delivery and standard-of-care HCV testing (control)) and two for PWID (peer delivery and standard-of-care HCV testing (control)). Participants in the postal delivery group will receive an HCVST kit delivered by an anonymised courier. Participants in the peer delivery groups will schedule delivery of the HCVST by a peer. Control groups will receive information on how to access standard-of-care testing at a testing site. The primary outcome is the number and proportion of participants who report completion of testing. Secondary outcomes include the number and proportion of participants who (a) receive a positive result and are made aware of their status, (b) are referred to and complete HCV RNA confirmatory testing, and (c) start treatment. Acceptability, feasibility, and attitudes around HCV testing and cost will also be evaluated. The target sample size is 1250 participants (250 per arm).Ethics and disseminationEthical approval has been obtained from the National Centers for Disease Control and Public Health Georgia Institutional Review Board (IRB) (IRB# 2021-049). Study results will be disseminated by presentations at conferences and via peer-reviewed journals. Protocol version 1.1; 14 July 2021.Trial registration numberClinicalTrials.gov Registry (NCT04961723).
Cohort profile: the Norwegian Registry of Persons Assessed for Cognitive Symptoms (NorCog) – a national research and quality registry with a biomaterial collection
Authors: Medbøen Ingrid Tøndel , Persson Karin , Nåvik Marit , Totland Torunn Holm , Bergh Sverre , Treviño Cathrine Selnes , Ulstein Ingun , Engedal Knut , Knapskog Anne-Brita , Brækhus Anne , Øksengård Anne Rita , Horndalsveen Peter Otto , Saltvedt Ingvild , Lyngroth Anne Liv , Ranhoff Anette Hylen , Skrettingland Dagny Bekkeheien , Naik Mala , Soares Jelena Zugic , Johnsen Bente , Selbaek Geir 
Published: September 2022

PurposeThe Norwegian Registry of Persons Assessed for Cognitive Symptoms (NorCog) was established to harmonise and improve the quality of diagnostic practice across clinics assessing persons with cognitive symptoms in Norwegian specialist healthcare units and to establish a large research cohort with extensive clinical data.ParticipantsThe registry recruits patients who are referred for assessment of cognitive symptoms and suspected dementia at outpatient clinics in Norwegian specialist healthcare units. In total, 18 120 patients have been included in NorCog during the period of 2009–2021. The average age at inclusion was 73.7 years. About half of the patients (46%) were diagnosed with dementia at the baseline assessment, 35% with mild cognitive impairment and 13% with no or subjective cognitive impairment; 7% received other specified diagnoses such as mood disorders.Findings to dateAll patients have a detailed baseline characterisation involving lifestyle and demographic variables; activities of daily living; caregiver situation; medical history; medication; psychiatric, physical and neurological examinations; neurocognitive testing; blood laboratory work-up; and structural or functional brain imaging. Diagnoses are set according to standardised diagnostic criteria. The research biobank stores DNA and blood samples from 4000 patients as well as cerebrospinal fluid from 800 patients. Data from NorCog have been used in a wide range of research projects evaluating and validating dementia-related assessment tools, and identifying patient characteristics, symptoms, functioning and needs, as well as caregiver burden and requirement of available resources.Future plansThe finish date of NorCog was originally in 2029. In 2021, the registry’s legal basis was reformalised and NorCog got approval to collect and keep data for as long as is necessary to achieve the purpose of the registry. In 2022, the registry underwent major changes. Paper-based data collection was replaced with digital registration, and the number of variables collected was reduced. Future plans involve expanding the registry to include patients from primary care centres.