bluuebunny/crossref_metadata_2025_split huggingface dataset:
ARF1-related disorder: phenotypic and molecular spectrum
Authors: de Sainte Agathe Jean-Madeleine , Pode-Shakked Ben , Naudion Sophie , Michaud Vincent , Arveiler Benoit , Fergelot Patricia , Delmas Jean , Keren Boris , Poirsier Céline , Alkuraya Fowzan S , Tabarki Brahim , Bend Eric , Davis Kellie , Bebin Martina , Thompson Michelle L , Bryant Emily M , Wagner Matias , Hannibal Iris , Lenberg Jerica , Krenn Martin , Wigby Kristen M , Friedman Jennifer R , Iascone Maria , Cereda Anna , Miao Térence , LeGuern Eric , Argilli Emanuela , Sherr Elliott , Caluseriu Oana , Tidwell Timothy , Bayrak-Toydemir Pinar , Hagedorn Caroline , Brugger Melanie , Vill Katharina , Morneau-Jacob Francois-Dominique , Chung Wendy , Weaver Kathryn N , Owens Joshua W , Husami Ammar , Chaudhari Bimal P , Stone Brandon S , Burns Katie , Li Rachel , de Lange Iris M , Biehler Margaux , Ginglinger Emmanuelle , Gérard Bénédicte , Stottmann Rolf W , Trimouille Aurélien 
Published: April 2023

PurposeARF1was previously implicated in periventricular nodular heterotopia (PVNH) in only five individuals and systematic clinical characterisation was not available. The aim of this study is to provide a comprehensive description of the phenotypic and genotypic spectrum ofARF1-related neurodevelopmental disorder.MethodsWe collected detailed phenotypes of an international cohort of individuals (n=17) withARF1variants assembled through the GeneMatcher platform. Missense variants were structurally modelled, and the impact of several were functionally validated.ResultsDe novo variants (10 missense, 1 frameshift, 1 splice altering resulting in 9 residues insertion) inARF1were identified among 17 unrelated individuals. Detailed phenotypes included intellectual disability (ID), microcephaly, seizures and PVNH. No specific facial characteristics were consistent across all cases, however microretrognathia was common. Various hearing and visual defects were recurrent, and interestingly, some inflammatory features were reported. MRI of the brain frequently showed abnormalities consistent with a neuronal migration disorder.ConclusionWe confirm the role ofARF1in an autosomal dominant syndrome with a phenotypic spectrum including severe ID, microcephaly, seizures and PVNH due to impaired neuronal migration.
Preclinical evaluation of ZL006-05, a new antistroke drug with fast-onset antidepressant and anxiolytic effects
Authors: Wu Haiyin , Huang Zhenquan , Wang Xuan , Chen Mingyu , Chen Wei , Hua Yao , Ren Jian , Shen Luyao , Song Yixuan , Zhou Ying , Luo Chunxia , Lin Yuhui , Wang Yilong , Chang Lei , Li Fei , Zhu Dongya 
Published: April 2023

BackgroundPoststroke depression and anxiety, independent predictor of poor functional outcomes, are common in the acute phase of stroke. Up to now, there is no fast-onset antidepressive and anxiolytic agents suitable for the management of acute stroke. ZL006-05, a dual-target analgesic we developed, dissociates nitric oxide synthase from postsynaptic density-95 while potentiates α2-containing γ-aminobutyric acid type A receptor. This study aims to determine whether ZL006-05 can be used as an antistroke agent with fast-onset antidepressant and anxiolytic effects.MethodsPhotothrombotic stroke and transient middle cerebral artery occlusion were induced in rats and mice. Infarct size was measured by TTC(2,3,5-Triphenyltetrazolium chloride) staining or Nissl staining. Neurological defects were assessed by four-point scale neurological score or modified Neurological Severity Scores. Grid-walking, cylinder and modified adhesive removal tasks were conducted to assess sensorimotor functions. Spatial learning was assessed using Morris water maze task. Depression and anxiety were induced by unpredictable chronic mild stress. Depressive behaviours were assessed by tail suspension, forced swim and sucrose preference tests. Anxiety behaviours were assessed by novelty-suppressed feeding and elevated plus maze tests. Pharmacokinetics, toxicokinetics and long-term toxicity studies were performed in rats.ResultsAdministration of ZL006-05 in the acute phase of stroke attenuated transient and permanent ischaemic injury and ameliorated long-term functional impairments significantly, with a treatment window of 12 hours after ischemia, and reduced plasminogen activato-induced haemorrhagic transformation. ZL006-05 produced fast-onset antidepressant and anxiolytic effects with onset latency of 1 hour in the normal and CMS mice, had antidepressant and anxiolytic effects in stroke mice. ZL006-05 crossed the blood–brain barrier and distributed into the brain rapidly, and had a high safety profile in toxicokinetics and long-term toxicological studies.ConclusionZL006-05 is a new neuroprotectant with fast-onset antidepressant and anxiolytic effects and has translational properties in terms of efficacy, safety and targeting of clinical issues.
Photochemically induced thalamus infarction impairs cognition in a mouse model
Authors: Zhang Chen , Li Shiping , Wang Yongjun , Shi Jiong 
Published: April 2023

BackgroundSmall subcortical infarcts account for up to 25% of ischaemic strokes. Thalamus is one of the subcortical structures that commonly manifest with lacunar infarcts on MRI of the brain. Studies have shown that thalamus infarction is associated with cognitive decline. However, due to the lack of proper animal models, little is known about the mechanism. We aimed to establish a focal thalamus infarction model, characterise the infarct lesion and assess functional effects.MethodsMale C57BL/6J mice were anaesthetised, and Rose Bengal dye was injected through the tail vein. The right thalamus was illuminated with green laser light by stereotactic implantation of optic fibre. Characteristics of the infarct and lesion evolution were evaluated by histological analysis and 7T MRI at various times. The cognitive and neurological functions were assessed by behavioural tests. Retrograde tracing was performed to analyse neural connections.ResultsAn ischaemic lesion with small vessel occlusion was observed in the thalamus. It became a small circumscribed infarct with reactive astrocytes accumulated in the infarct periphery on day 21. The mice with thalamic infarction demonstrated impaired learning and memory without significant neurological deficits. Retrogradely labelled neurons in the retrosplenial granular cortex were reduced.ConclusionThis study established a mouse model of thalamic lacunar infarction that exhibits cognitive impairment. Neural connection dysfunctions may play a potential role in post-stroke cognitive impairment. This model helps to clarify the pathophysiology of post-stroke cognitive impairment and to develop potential therapies.
International Institutions and Information Technologies: Transformations for a Higher Order System
Authors: Gordon Geoff 
Published: April 2023

Abstract
This contribution focuses on the interoperation of analogue and digital information technologies (and techniques associated with them), to ask how their interoperation has determined (and changed) what is made legible in practices associated with international institutions. It traces how the interoperation of digital and analogue technologies has supported the intensification of efficiency-maximizing institutional routines, now expressed in the so-called optimization function associated with neural networks and artificial intelligence. As a result, the terrain of contestation has shifted in significant ways from arguments over rules to pattern-recognition processes that determine efficient solutions according to optimal outcomes. Institutional practice on this new terrain aspires to a sort of immediacy, a direct engagement in the becoming of the thing(s) to which the institutional mandate may apply. This immediacy defies the reflective character associated with traditional legal practice, and assumes power by defining problems and engendering governance issues in the very act of addressing them.
International Law as a Cyborg Science
Authors: Haskell John D. 
Published: April 2023

Abstract
International law academics have increasingly turned to engage deliberately engage computer-oriented technologies. There is little work in the literature that reflects on how this engagement itself takes place, what it tells us about the state of the discipline, and the consequences of concentrating on the phenomena of digital technologies. This paper shares some possible conceptual taxonomies and theoretical concerns in disciplinary self-reflection about our digital futures.
Decision Making in Asylum Law and Machine Learning
Authors: Arvidsson Matilda , Noll Gregor 
Published: April 2023

Abstract
This article avails an autoethnography of the authors’ attempt to construct a post hoc intervention machine learning (ml) system responsive to the problem of discrimination in asylum law decisions. In the article we revisit the conjunction of law as a slow hermeneutic, against the fast-paced pull of ai and commercial imperatives to ask whether a ml-driven post hoc intervention system such as the one set up in the research project reduces the overall risk of discrimination emerging from human discretion in legal decision making on asylum. We conclude that a ml-driven ‘anti-discrimination machine’ will displace rather than reduce that overall risk. We warn that similar attempts at using ml as part of legal decision making, decision support, and post hoc interventions, in international law and beyond, may need to take seriously the risks of human discretion embedded in ml design and data selection.
Subjecthood in Cyberspace and the Uncanny Valley of International Law
Authors: Korhonen Outi , Bruncevic Merima , Arvidsson Matilda 
Published: April 2023

Abstract
In this article the authors build on Masahiro Mori’s 1970s essay “The Uncanny Valley”, psychoanalysis and critical legal pluralism, to analyse how the uncanny in international law is exposed through law’s encounter with the a-human, non-human and more-than-human phenomena challenging legal subjecthood in cyberspace. Discussing autonomous decision-making, dwellers and encounters in international law’s uncanny valley the article proposes that international law needs to cater to a spectrum of non-human subjectivities, entities, laws and normativities. In short, international law needs to ‘get over itself’ and its constant anxiety in the face of the plurality of laws and Others.
Now You See Them, Now You Don’t
Authors: Murphy Sean D. , Parkhomenko Yuri 
Published: April 2023

Abstract
One intersection between scholarship and practice in international humanitarian law is observable in international litigation concerning violations of the law of war. An interesting example in this regard recently arose in the case by the Democratic Republic of the Congo against Uganda for war-related claims. At the reparations phase, the Court decided not to rely solely on the submissions of the Parties, but to task certain scholars and other experts to answer evidentiary questions. Yet, when the Court’s judgment was issued in February 2022, the role of these experts turned out to be almost negligible, with one significant exception. The overall lesson may be that – while the work of scholars can be highly important for claims practice relating to international humanitarian law – it has its limits, such as when proving and quantifying mass civil injury resulting from a lengthy and complex armed conflict.
A Study on the Conceptual Structure of the Use of Prepositions in the Complement of Goal-oriented Motion Verbs in Brazilian Portuguese
Authors: Gil Maitê Moraes , Soares da Silva Augusto 
Published: April 2023

Abstract
This study aims at understanding the conceptual structure of the use of prepositions (a ‘at’, para ‘to’, em ‘in’) in the complement of goal-oriented motion verbs (ir ‘go’, vir ‘come’, chegar ‘arrive’) in Brazilian Portuguese. Applying a corpus-based and profile-based methodology, within a Cognitive Grammar framework, this study combines a multifactorial usage-feature analysis of these prepositional constructions with their subsequent multivariate statistical modeling. The results point out the cognitive basis of this constructional variation and specifically show that the semantic features ‘profiling’ and ‘motion verb’ are the most important language-internal predictors in the use of the prepositions. This variation conveys alternative grammatical construals, i.e., the very high frequency of em ‘in’ in the complement of goal-oriented motion indicates nuances of meaning motivated by the superimposition of image schemas and the cognitive operation of profiling. Language-external features, such as register, also play a role in the variation.
The Poetics of Pain
Authors: Holst-Warhaft Gail 
Published: April 2023

Abstract
Modern Greek poetry has been influenced by a tradition of lament that is still practiced in rural Greece, and by the tragic events of modern Greek history. In contrast to the elegiac tradition, laments and their women practitioners ascribe a positive value to pain. Male poets of the generation of 1930 made use of the imagery of folk lament in their poetry, and women poets of the second half of the 20th century addressed the dead directly as their village counterparts still do. The Asia Minor catastrophe of 1922 dominated 20th-century modern Greek literature and drew on another traditional poetic form, the “lament for lost cities.” More recently, songwriters have mourned the political and economic tragedies of contemporary Greece in lyrics that seem much closer, in their expression of pain, to the tradition of lament than to elegy.
The Words of Facts: How British and Italian Students Use in Fact in Academic Writing
Authors: Ackerley Katherine , Gesuato Sara 
Published: April 2023

Abstract
This study examines the frequency, meanings, lexico-grammatical and discursive features of the pragmatic marker in fact in an L1 subcorpus of the British Academic Written English corpus and in a learner corpus of essays written by Italian university students. One of four meanings, ‘contrast’, ‘specification’, ‘factuality’ and ‘support’, was assigned to each instance of in fact in both corpora. Similarities and differences emerged in the use of this pragmatic marker. All four meanings are present in both corpora; however, the ‘contrast’ and ‘specification’ meanings occur more often in the L1 corpus, while the ‘factuality’ and ‘support’ meanings occur more often in the L2 corpus. These findings suggest that the Italian learners are not fully aware of the multiple meanings of in fact.
Predicting Airflow from Measures Sensitive to Mid-cord Glottal Gap During the COVID-19 Pandemic
Authors: Niermeyer Weston , Diao Guoqing , Bielamowicz Steven A. , Stager Sheila V. 
Published: April 2023

Objectives: To determine if trans-laryngeal airflow, important in assessing vocal function in paresis/paralysis and presbylarynges patients with mid-cord glottal gaps, could be predicted by other measures sensitive to mid-cord glottal gap size but with smaller risks of spreading COVID-19, and if any patient factors need consideration. Methods: Four populations were: unilateral vocal fold paresis/paralysis (UVFP, 148), aging and UVFP (UVFP plus aging, 22), bilateral vocal fold paresis/paralysis without airway obstruction (BVFP, 49), and presbylarynges (66). Five measures were selected from the initial clinic visit: mean airflow from repeated /pi/ syllables, longer of 2 /s/ and 2 /z/ productions, higher of 2 cepstral peak prominence smoothed for vowel /a/ (CPPSa), and Glottal Function Index (GFI). S/Z ratios were computed. Stepwise regression models used 3 measures and 5 patient factors (age, sex, etiology, diagnosis, and potentially impaired power source for voicing) to predict airflow. Results: Log-transformations were required to normalize distributions of airflow and S/Z ratio. The final model revealed age, sex, impaired power source, log-transformed S/Z ratio, and GFI predicted log-transformed airflow ( R2 = .275, F[5,278] = 21.1; P < .001). Conclusions: The amount of variance explained by the model was not high, suggesting adding other predictive variables to the model might increase the variance explained.
Flourishing, psychological distress and internalized stigma among parents of an adult son or daughter with schizophrenia
Authors: Dimitriou Loukia , Chiu Marcus , Carson Jerome 
Published: April 2023

Background: Parents of adults diagnosed with schizophrenia, have been reported to have higher levels of psychological distress than the general population, and parents whose offspring have other mental or physical illnesses. Aim: This study examines the comparatively new construct of flourishing, and its relationship to internalized stigma and psychological distress. Method: A cross-sectional survey was conducted between July 2021 and March 2022, with an international sample of 200 parents of adult sons or daughters diagnosed with schizophrenia. Participants completed a demographic questionnaire and three standardized inventories. These were the PERMA Profiler, which measures flourishing, the CORE-10, which measures psychological distress, and a new parental Internalized Stigma Scale. Sample characteristics of individuals of schizophrenia and their parents were examined using descriptive statistics, and the contributing factors affecting stigma were assessed through regression analysis. Results: The initial hypothesis that parents scoring high on internalized stigma, would have significantly higher levels of psychological distress and lower levels of flourishing, than parents with low-level internalized stigma, was confirmed. Overall, the flourishing levels were lower and psychological distress higher in these parents, than those of the general population. Regression analysis identified psychological distress and hopefulness as the two major predictors of flourishing, though in different directions. Interestingly, stigma did not determine flourishing, in spite of their close relationship. Conclusions: Researchers have long been aware of internalized stigma in persons with schizophrenia. Yet this study is one of the few that linked it with parents of adults with schizophrenia and flourishing and psychological distress. Implications were discussed in the light of the findings.
Evaluation of parent bonding style and traumatic experiences in patients with schizophrenia and bipolar disorder: A case-control study
Authors: Gomes Liliana , Ferreira Tania , Santos Emanuel , Freitas Joana , Carvalho Rafael 
Published: April 2023

Background: There is no consensus about the etiology of schizophrenia (SQZ) and bipolar disorder (BD). Both hereditary and environmental factors are recognized, but the importance of variables like the role of parental attachment and trauma is still under research. Aims: Evaluate and compare the patient-parent bonding and the frequency and severity of various types of trauma in patients with SQZ, BD, and a control group from Primary Health Care. Method: This study included 50 patients with SQZ and 50 with BD followed at a psychiatric hospital, through a convenience sample. Each participant of the clinical sample was paired with a control with no psychiatric background of the same gender and similar age, from a primary health center. Two scales were applied – Parental Bonding Instrument (PBI) and Childhood Trauma Questionnaire – Short Form (CTQ-SF). Results: Regarding PBI, there was a higher frequency of the most dysfunctional attachment style (affectionless control), in patients with SQZ and BD, with p < .001 (always), both for the father and the mother. In addition, ideal parenting style (optimal parenting) was significantly more common in control samples, with p = .002 or <.001, both for the father and for the mother. Trauma was more frequent and severe in SQZ and BD than controls, in all evaluated dimensions. Again, differences between groups are obvious, with p = .012 or <.001. Parental bonding style and scores in the care and overprotection dimensions were also correlated. The only parental bonding style in which correlations were found was in affectionless control. Correlations were more common in cases of neglect compared to abuse. Conclusions: In this research we found important differences in terms of parental attachment and childhood trauma between patients with SQZ and BD, compared with controls of the same gender and age.
Association between sleep-disordered breathing and self-reported sinusitis in adults in the United States: NHANES 2005–2006
Authors: Chen Tian , Li Fen , Xi Yang , Deng Yuqin , Chen Shiming , Tao Zezhang 
Published: April 2023

Objectives The association between sleep-disordered breathing (SDB) and sinusitis has been widely studied; however, research on SDB-related sleep problems and sinusitis are limited. This study aims to determine the relationship between SDB-related sleep problems, SDB symptom score, and sinusitis. Methods After the screening, data were analyzed from 3414 individuals (≥20 years) from the 2005–2006 National Health and Nutrition Examination Survey questionnaire. Data on snoring, daytime sleepiness, obstructive sleep apnea (snorting, gasping, or cessation of breathing while sleeping), and sleep duration were analyzed. The SDB symptom score was determined based on a summary of the scores of the above four parameters. Pearson chi-square test and logistic regression analysis were used in statistical analyses. Results After adjusting for confounders, self-reported sinusitis was strongly correlated with frequent apneas (OR: 1.950; 95% CI: 1.349–2.219), excessive daytime sleepiness (OR: 1.880; 95% CI: 1.504–2.349), and frequent snoring (OR: 1.481; 95% CI: 1.097–2.000). Compared to an SDB symptom score of 0, the higher the SDB symptom score, the higher the risk of self-reported sinusitis. For the subgroup analyses, this association was significant in females and across ethnic groups. Conclusion In the United States, SDB is significantly associated with self-reported sinusitis in adults. In addition, our study suggests that patients with SDB should be aware of the risk of developing sinusitis.
Pediatric optic nerve and globe measurements on magnetic resonance imaging: establishing norms for children
Authors: Raffa Anas , Raffa Lina , Kamal Yumna , Hassan Tasneem , Alaidarous Khadija , Osaylan Majed , Almarzouki Nawaf 
Published: April 2023

Background Normal optic nerve diameter (OND) and optic nerve sheath diameter (ONSD) may be beneficial for describing optic nerve pathway abnormality reflecting increased intracranial pressure. Nonetheless, magnetic resonance imaging (MRI) measurement of the normal ONSD range and its associations with clinical factors and eyeball transverse diameter (ETD) are not well established in children. Purpose To establish normal OND, ONSD, ETD, and OND/ONSD and ONSD/ETD measurements in children and their associations with age and sex. Material and Methods We evaluated and analyzed 336 brain MRI studies of children aged 0.5 months to 18 years. We measured a total of 672 optic nerves. The OND and ONSD were measured 1 cm anterior to the optic foramina and 3 mm behind the optic disc on an axial T2 sequence. Results The mean OND 3 mm and 1 cm, ONSD 3 mm and 1 cm, and ETD were 0.23 ± 0.05 mm and 0.16 ± 0.04 mm, 0.53 ± 0.08 mm and 0.38 ± 0.06 mm, and 2.3 ± 0.13, respectively. Only ONSD 1 cm was independent of age ( P = 0.247). ONSD 3 mm and ETD were significantly wider in boys compared to girls and significantly influenced by age (both P < 0.001). Age at scan and ETD were significantly correlated ( P < 0.001). Conclusion We established MRI-based OND, ONSD, ETD, and ONSD/ETD and OND/ONSD ratio normative values in children, which can be helpful in pediatric populations with disease.