bluuebunny/crossref_metadata_2025_split huggingface dataset:
Majeed syndrome: first description in a patient of central-European ancestry
Authors: Drago Enrico , Bertoni Arinna , Grossi Alice , Damasio Maria Beatrice , Anfigeno Lorenzo , Miano Maurizio , Papa Riccardo , Volpi Stefano , Ceccherini Isabella , Gattorno Marco , Caorsi Roberta 
Published: September 2024

Abstract

Objectives
We present the first case of a Majeed syndrome in a girl of central-European ancestry.

Methods
Patient’s medical records were reviewed. A next-generation sequencing (NGS) panel for autoinflammatory diseases was performed and the mutation was confirmed by Sanger analysis. Freshly isolated monocytes were activated with lipopolysaccharide ± ATP. The concentration of inflammatory cytokines was assessed in monocyte supernatants.

Results
A 2-year-old girl presented with pain in the lower limbs, increase of acute phase reactants and persistent microcytic anaemia. The MRI showed bilateral short time inversion recovery (STIR) hyper-intensity of the spongy osseous tissue of the femur, tibia, radius, ulna and astragalus. Bone marrow analysis revealed increased trilinear cellularity with signs of dyserythropoietic anaemia. The NGS panel detected the presence of two novel compound heterozygous mutations in the LPIN2 gene, confirmed by Sanger analysis. Treatment with anakinra was started with a prompt resolution of the clinical picture. Increased kinetics and concentration of IL-1β were observed in the patient’s monocytes compared with healthy controls, with a marked drop following the start of therapy. About 6 months after the start of the therapy, resolution of MRI findings, microcytic anaemia and dyserythropoiesis at bone marrow aspirate were observed.

Conclusion
We describe the first case of Majeed syndrome in a patient of central-European ancestry. The functional test on circulating monocytes before and after therapy with anakinra confirmed pathogenicity of the mutation and the role of LPIN2 in the NLRP3 inflammasome activation. Anti-IL1 agents were effective, leading not only to the resolution of bone lesions but also to an improvement of dyserythropoiesis.
Psychosis Risk: Time to Look Empirically at a First-step Economical-pragmatic Way to Examine Anomalous Self-experience. Exploring the SQuEASE-11
Authors: Møller Paul , Nelson Barnaby , McGorry Patrick D , Mei Cristina , Amminger G Paul , Yuen Hok Pan , Kerr Melissa , Spark Jessica , Wallis Nicky , Polari Andrea , Baird Shelley , Buccilli Kate , Dempsey Sarah-Jane A , Ferguson Natalie , Formica Melanie , Krcmar Marija , Quinn Amelia L , Mebrahtu Yohannes , Ruslins Arlan , Street Rebekah , Dixon Lisa , Carter Cameron , Loewy Rachel , Niendam Tara A , Shumway Martha , Wannan Cassandra 
Published: September 2024

Abstract

Background
Since the late 1990s, there has been a worldwide surge of scientific interest in the pre-psychotic phase, resulting in the introduction of several clinical tools for early detection. The predictive accuracy of these tools has been limited, motivating the need for methodological and perspectival improvements. The EASE manual supports systematic assessment of anomalous self-experience, and proposes an overall model of understanding how most psychotic experiences may be initially generated on the basis of a unifying, fundamental, pre-reflective distortion of subjectivity.

Study Design
The EASE is time-consuming, so in order to spread the use of this essential perspective of psychosis risk we selected prototypical and frequent phenomena from the EASE, combining them into SQuEASE-11. To investigate this instrument for clinical relevance, basic psychometric properties, factor structure, and relationships with gold standard instruments and the full EASE, it was administered as an interview in the STEP intervention trial (Melbourne, Australia), with 328 clinical high-risk for psychosis (CHR-P) patients.

Study Results
The SQuEASE-11 had moderate internal consistency and revealed two correlated factors. Significant relationships were observed between the SQuEASE-11 and the widely used and validated instruments CAARMS, BPRS, SANS, MADRS, DACOBS, and SOFAS. The correlation with the full EASE was very strong.

Conclusions
These 11 items do not necessarily relate specifically to ipseity disturbance, but the SQuEASE-11 seems to be a clinically relevant and brief supplementary first-line interview in CHR-P subjects. It may give a qualified indication of the need for a complete EASE interview, and it may also, importantly, inform treatment planning.
Unintended institutionalization: how the politics of symbolic fiscal practices shapes economic policy
Authors: Labarca José Tomás 
Published: September 2024

Abstract
Sociologists and political economists frequently study the politics of economic ideas, but the official statistics that enable decision-making and shape public debate have been less scrutinized. This article theorizes symbolic fiscal practices—the conceptual and accounting conventions, procedures, techniques and devices underlying official budgetary information—as the object and means of different framing contests. To demonstrate the analytical value of this perspective, the article studies why and how the Public Sector Borrowing Requirement (PSBR) became the headline fiscal indicator of the UK in the 1970s. It argues the PSBR is a case of unintended institutionalization driven by the interplay between bureaucratic and economic-policy framing contests. Budgetary conventions, tables, labels and numbers are political objects. Their production, uses and understandings are neither pure reflections of economic-policy framing contests nor the sole result of bureaucratic framing contests. The politics of symbolic fiscal practices may thus influence economic policy in unexpected ways.
From single nucleotide variations to genes: identifying the genetic links between sleep and psychiatric disorders
Authors: Jia Ningning , Zhu Zhenhua , Liu Yane , Yin Xuyuan , Man Lijuan , Hou Wenlong , Zhang Huiping , Yu Qiong , Hui Li 
Published: September 2024

Abstract

Study Objectives
Sleep disorders and psychiatric disorders frequently coexist and interact, yet the shared genetic basis linking these two domains remains poorly understood.

Methods
We investigated the genetic correlation and overlap between seven sleep/circadian traits and three psychiatric disorders at the level of genome-wide association studies (GWAS), utilizing LDSC, HDL, and GPA. To identify potential polygenic single nucleotide variations (SNVs) within each trait pair, we used PLACO, while gene-level analyses were performed using MAGMA and POPS. Furthermore, the functions and biological mechanisms, enriched phenotypes, tissues, cellular features, and pathways were thoroughly investigated using FUMA, deTS, and enrichment analyses at the biological pathway level.

Results
Our study revealed extensive genetic associations and overlaps in all 21 trait pairs. We identified 18 494 SNVs and 543 independent genomic risk loci, with 113 confirmed as causative through colocalization analysis. These loci collectively spanned 196 unique chromosomal regions. We pinpointed 43 distinct pleiotropic genes exhibiting significant enrichment in behavioral/physiological phenotypes, nervous system phenotypes, and brain tissue. Aberrations in synaptic structure and function, neurogenesis and development, as well as immune responses, particularly involving the MAPK pathway, emerged as potential underpinnings of the biology of sleep/circadian traits and psychiatric disorders.

Conclusions
We identified shared loci and specific sets of genes between sleep/circadian traits and psychiatric disorders, shedding light on the genetic etiology. These discoveries hold promise as potential targets for novel drug interventions, providing valuable insights for the development of therapeutic strategies for these disorders.
Clinical and laboratory characteristics of Toxocara canis infection among children in Ho Chi Minh City, Vietnam
Authors: Ha Thieu V , Tang Hong K , Ngo Bach V , Le Truc P T , Le Duc H , Tran Y M L , Dang Duy K H , Vo Tien T N 
Published: September 2024

Abstract

Background
This study determines the clinical and paraclinical characteristics of children with Toxocara canis infection and serum eosinophil cut-off values for predicting toxocariasis in the group displaying symptoms of itching, urticaria and erythema.

Methods
A cross-sectional study was conducted during March and April 2023 with a sample size of 986 children aged 3–15 y.

Results
In total, 140 (14.2%) of the 986 participants had anti-T canis antibodies. The most frequently experienced symptoms in this group were itching (10.1%), abdominal pain (8.2%) and urticaria (3.3%). The rate of IgE increased (37%), and the rates of mild and high eosinophilia were 38% and 2.2%, respectively. There were significant differences in IgE concentration and eosinophil count, and for both IgE concentration and eosinophil count between the two groups with and without toxocariasis. The optimal threshold for eosinophil to predict toxocariasis was 0.38 K/µL, with itching, urticaria and erythema resulting in a sensitivity of 61.5%, a specificity of 82.1% and a receiver operating characteristic curve (area under the curve) of 0.71.

Conclusions
This study confirmed a positive association between IgE concentration, eosinophil count and positive serology for T. canis. A general blood count, including eosinophils, is a simple test that can be performed in hospitals. Clinicians should target and screen for T.oxocara canis infection when children display clinical symptoms of itching, urticaria, erythema and eosinophilia.

Clinical trial registration number
NCT05208333
SING IMT removal for unsatisfied patients: step-by-step surgery for a safe explant
Authors: Savastano Alfonso , D’Onofrio Nicola Claudio , Francione Giuseppe , Sasso Paola , Hu Lorenzo , Rizzo Stanislao 
Published: September 2024

Purpose:
To report three cases of Smaller-Incision New-Generation Implantable Miniature Telescope (SING-IMG) explantation and three-piece acrylic intraocular lens (IOL) implantation in patients affected by late-stage dry AMD.

Methods:
This is a single-center cohort study. Three patients with stable dry AMD previously implanted with SING-IMT failed to adapt to the device requesting its explantation. Surgical procedures were performed under peribulbar anesthesia, with careful removal of the SING-IMT telescope through a sclero-corneal tunnel of 8 mm and implantation of a three-piece acrylic IOL. Patients underwent pre and postoperative assessments, including visual acuity measurements, endothelial cell count and intraocular pressure. Patients were followed postoperatively for at least 6 months, with particular attention to IOL stability and posterior capsule integrity.

Results:
Postoperative assessments demonstrated positive outcomes, revealing no IOL dislocation or posterior capsular opacification after 6 months. Endothelial cell count diminished. Best-corrected visual acuity (BCVA) returned to values before SING-IMT implantation.

Conclusions:
In our small cohort, SING-IMT explantation appeared to be a safe option. Despite promising visual outcomes, some patients might not adapt to SING-IMT. Further studies are needed to evaluate criteria to predict telescope adaptation.
Bilateral haptic disinsertion in a 3-piece intraocular lens managed with green endolaser welding: case report
Authors: Assaf Ahmed Hassan , Mahgoub Mohamed Moghazy , Samy Hams , Fawky Noha 
Published: September 2024

Introduction:
This case report presents a unique instance of bilateral haptic disinsertion from a 3-piece intraocular lens (IOL), which was successfully resolved using argon laser welding.

Patient and Clinical Findings:
An 85-year-old man presented with bilateral haptic slippage of a 3-piece IOL after uneventful flanged intrascleral haptic fixation. The haptic flanges were noticed fixed to the sclera on the nasal and temporal sides while the IOL optic could be clearly identified resting on the retina by ultra-wide fundus photographs.

Diagnosis, Intervention, and Outcomes:
The IOL could be successfully retrieved into the anterior chamber after posterior vitrectomy, and the haptics of the IOL could be sequentially introduced into its original track in the IOL optic and fixed by welding with a green endolaser with 250 mW. A significant decentration was noticed, which was managed with the deformation of one of the optics using the endolaser until a satisfactory decentration could be achieved under the operating microscope.

Conclusions:
Green endolaser can be used for welding of haptics into the IOL haptic as a new intervention for the rare complication of bilateral haptic disinsertion from a 3-piece IOL.
An Integrative Review of the Literature Examining Sexual Relationship Power, Depressive Symptoms, Silencing the Self, and HIV Vulnerability for Women in the United States
Authors: Goodwyn Wanda L. , Caiola Courtney , Roberson Donna 
Published: September 2024

Abstract
The purpose of our integrative review was to synthesize the literature examining relationships between depressive symptoms, silencing the self (STS), sexual relationship power (SRP), and HIV vulnerability among women in the United States. Literature searches were conducted through CINAHL, MEDLINE, PsycINFO, SCOPUS, Sociological Abstracts, and SocINDEX. Integrative review methodology of Whittemore and Knafl guided the review process, and 37 articles met inclusion criteria. The Theory of Gender and Power, modified by Wingood and DiClemente, was the guiding framework to organize and synthesize findings. Primary findings suggest that depressive symptoms, STS, and SRP in relationships may individually influence women's vulnerability for acquiring HIV, yet research lags behind. Evidence documenting relationships between these factors is insufficient to draw generalizable conclusions. Findings suggest that the current literature on this topic does not reflect those women most highly affected by HIV and those who identify as African American or Black in the Southeast region of the United States.
Male infertility and obesity
Authors: Rasouli Melody A. , Dumesic Daniel A. , Singhal Vibha 
Published: September 2024

Purpose of review
The increasing rate of obesity is having an adverse impact on male reproduction.

Recent findings
The negative effect of reactive oxygen species on male reproductive tissues and the age of onset of obesity are new areas of research on male infertility.

Summary
This review highlights how obesity impairs male reproduction through complex mechanisms, including metabolic syndrome, lipotoxicity, sexual dysfunction, hormonal and adipokine alterations as well as epigenetic changes, and how new management strategies may improve the reproductive health of men throughout life.
Continued contribution to atopic innovation with dupilumab
Authors: Wright Alex E. , Wood Will , Goyal Aakash 
Published: September 2024

Purpose of review
Dupilumab is an emerging medication that has shown efficacy for multiple atopic conditions. This review provides insight into the common conditions that are treated, mechanism of action, and continued innovation with the medication.

Recent findings
There continues to be applicability of dupilumab in treating a growing number of atopic conditions. Increasingly younger patient populations with eosinophil based conditions are being approved for this therapy. It is also considered as an additional option treatment for patients who cannot tolerate oral therapy or have adverse effects from other agents. Patients with more severe conditions are finally finding symptom stability while also being able to reduce reliance on corticosteroids. Patients as young as 6 months of age have benefited from treatment.

Summary
As atopic conditions become more prevalent, dupilumab has been shown to be successful in inducing remission of symptoms. Overall, it continues to be a promising treatment for reducing the burden of disease severity as well as improving the quality of life of affected children.
Ketogenic interventions restore cognition and modulate peripheral metabolic dysfunctions in Alzheimer’s disease mouse models
Authors: M’Bra Paule E. H. , Hamilton Laura K. , Moquin-Beaudry Gaël , Aubin Myriam , Mangahas Chenicka L. , Pratesi Federico , Brunet-Ratnasingham Elsa , Castonguay Anne , Mailloux Sophia , Galoppin Manon , Bernier Megan , Turri Marta , Vachon Annick , Mayhue Marian , Aumont Anne , Tétreault Martine , Plourde Mélanie , Fernandes Karl J.L. 
Published: September 2024

SummaryLifestyle factors modulate dementia risk. We investigated mechanisms of dementia risk reduction by emerging dietary ketogenic interventions. We show that distinct interventions, a medium-chain triglycerides (MCT)-enriched diet and a carbohydrate-free, high-fat diet (CFHF), improve cognition and dendritic spine density of memory-associated hippocampal neurons in two mouse models of Alzheimer’s disease (AD). Only the CFHF diet drove increased circulating ketones, suggesting distinct underlying mechanisms. AD mice exhibited baseline and diet-induced susceptibility to peripheral metabolic disturbances that were improved by MCT and exacerbated by CFHF diets. Prominent AD-associated dysregulation of the liver transcriptome was largely restored by both interventions, but MCT also downregulated lipogenic enzymes and did not trigger a CFHF-like inflammatory signature. Novel AD- and diet-induced plasmatic changes in hormones and lipid species were identified. Thus, different ketogenic interventions yield cognitive benefits in AD models while showing intervention-specific modulation of peripheral metabolic defects, with implications for design of therapeutic ketogenic strategies.
Bradykinesia and postural instability in a model of prodromal Synucleinopathy with α-Synuclein aggregation in the gigantocellular nuclei
Authors: Theologidis Vasileios , Ferreira Sara A. , Jensen Nanna M. , Moreira Diana Gomes , Ahlgreen Ole A. , Hansen Mads W. , Rosenberg Emilie D. , Richner Mette , Faress Islam , Gram Hjalte , Jensen Poul H. , Borghammer Per , Nyengaard Jens R. , Romero-Ramos Marina , Vægter Christian B. , van de Berg Wilma D. J. , Van Den Berge Nathalie , Jan Asad 
Published: September 2024

ABSTRACTα-Synuclein (aSyn) accumulation within the extra-nigral neuronal populations in brainstem, including the gigantocellular nuclei (GRN/Gi) of reticular formation, is a recognized feature during the prodromal phase of Parkinson disease (PD). Accordingly, there is a burgeoning interest in animal model development for understanding the pathological significance of extra-nigral synucleinopathy, in relation to motor and/or non-motor symptomatology in PD. Here, we report an experimental paradigm for the induction of aSyn aggregation in brainstem, with stereotaxic delivery of pre-formed fibrillar (PFF) aSyn in the pontine GRN of transgenic mice expressing the mutant human Ala53Thr aSyn (M83 line). Our data show that PFF aSyn-induced aggregate pathology in GRN leads to progressive decline in spontaneous locomotion and an early phenotype of postural instability. This early phase of bradykinesia was followed by a moribund stage, characterized by worsening motor performance and impaired survival with substantial aSyn aggregation in several brain regions beyond the GRN. Collectively, our observations suggest an experimental framework for studying the pathological significance of aSyn aggregation in GRN in relation to features of movement disability in PD. With further refinements, we anticipate that this model holds promise as a test-bed for translational research in PD and related disorders.
A Comparative assessment of T-Cell response of Healthy donors and Acute Graft-versus-Host-Disease Patients: Customizing immune monitoring platform
Authors: Mendiratta Mohini , Mendiratta Meenakshi , Rai Sandeep , Gupta Ritu , Bakhshi Sameer , Aggarwal Mukul , Gupta Aditya Kumar , Prakash Hridayesh , Mohanty Sujata , Sahoo Ranjit Kumar 
Published: September 2024

AbstractBackgroundT-cell activation and proliferation are critical for understanding immune responses in both healthy and pathological conditions such as acute graft-versus-host disease (aGVHD). Phytohemagglutinin (PHA) and interleukin-2 (IL-2) are commonly used in in vitro assays to study T-cell responses. In view of the discrete response of T cells from aGvHD patient’s cohorts, our study optimized PHA / IL-2 based T-cell response among healthy individuals versus aGVHD patients.MethodsPeripheral blood was collected from age- and sex-matched healthy individuals (n=10) and aGVHD patients (n=10). CD3+T-cell were isolated and stimulated with varying concentrations of PHA (1-10μg/ml) and IL-2 (50-500 IU/ml). Cell proliferation was assessed using MTS and CFSE assays, while their apoptosis was evaluated with Annexin V/7-AAD staining.ResultsWe observed enhanced proliferation of healthy individuals at higher PHA concentrations (5-10μg/ml), whereas aGVHD patients exhibited heightened proliferation even at lower PHA concentrations (1-2.5μg/ml) at 48 hours. Prolonged exposure of T cells from GvHD patients to PHA led to decreased proliferation while it increased in the T cells from healthy donors.IL-2 supplementation (50 IU/ml) of T-cells from healthy donors significantly enhanced their proliferation and survival, with the optimal concentration supporting robust proliferation over extended culture periods.ConclusionOur study optimized PHA and IL-2 concentrations required for T-cell proliferation studies among healthy individuals and aGVHD patients. and underscored experimental conditions required for studying T-cell behavior/dysregulation in aGVHD condition.GRAPHICAL ABSTRACTHighlights of the studyLower doses of PHA (1.0μg/ml) and IL-2 (50IU/ml) are optimum conditions for aGVHD patients derived CD3+ T-cell proliferation underin vitroconditions.The maximum T-cell proliferation in healthy individuals occurs with 7.5μg/ml PHA and 50IU/ml IL-2.Higher doses of PHA induce cytotoxicity in both cohorts.IL-2 significantly enhances T-cell survival, with 50IU/ml maintaining robust proliferation over extended periods.
Environmental Impacts of Serum-free Food-grade and Complex Culture Medium Production for Cultivated Meat
Authors: Takenaka Natsufumi , Hong-Mitsui Kimiko , Kunimasa Kazuhiro , Kawajiri Kotaro , Kayo Chihiro , Yoshikawa Naoki 
Published: September 2024

ABSTRACTCultivated meat is an alternative meat produced via cell culture. The culture medium accounts for most of the environmental impact of cultivated meat production. This study quantitatively evaluated and analyzed the environmental impact of serum-free food-grade and complex culture medium production for cultivated meat by performing a life cycle assessment (LCA) based on activity data at the laboratory scale. In addition, specific measures were proposed to reduce the environmental impact further. LCAs were performed at current and future production scales. This study also evaluated the impact of multiple electricity sources on the environmental impact of culture-medium production. Expendables at the current scale, as well as electricity and animal-derived materials at both scales, are hotspots in the environmental impact of this culture-medium production. Among these components, the production of serum substitutes accounts for most of the environmental impact. As the scale shifts, the environmental impacts are expected to decrease by 11.3%–93.2% in all impact categories. As the composition of electricity sources changed, the impact on certain categories decreased. However, as the share of renewable energy increased, the impact on land use also increased significantly. This study promotes the practical application of new culture media for low-cost and low-environment-impact cultivated meat.Graphical abstractSYNOPSIS. This study evaluates the environmental impact of culture-medium production for cultivated meat and reports that electricity, animal-derived materials, and expendables are hotspots of this impact.