bluuebunny/crossref_metadata_2025_split huggingface dataset:
Evaluating the representation of disaster hazards in SNOMED CT: gaps and opportunities
Authors: Lokmic-Tomkins Zerina , Block Lorraine J , Davies Shauna , Reid Lisa , Ronquillo Charlene Esteban , von Gerich Hanna , Peltonen Laura-Maria 
Published: August 2023

Abstract

Objective
Climate change, an underlying risk driver of natural disasters, threatens the environmental sustainability, planetary health, and sustainable development goals. Incorporating disaster-related health impacts into electronic health records helps to comprehend their impact on populations, clinicians, and healthcare systems. This study aims to: (1) map the United Nations Office for Disaster Risk Reduction and International Science Council (UNDRR-ISC) Hazard Information Profiles to SNOMED CT International, a clinical terminology used by clinicians, to manage patients and provide healthcare services; and (2) to determine the extent of clinical terminologies available to capture disaster-related events.

Materials and Methods
Concepts related to disasters were extracted from the UNDRR-ISC’s Hazard Information Profiles and mapped to a health terminology using a procedural framework for standardized clinical terminology mapping. The mapping process involved evaluating candidate matches and creating a final list of matches to determine concept coverage.

Results
A total of 226 disaster hazard concepts were identified to adversely impact human health. Chemical and biological disaster hazard concepts had better representation than meteorological, hydrological, extraterrestrial, geohazards, environmental, technical, and societal hazard concepts in SNOMED CT. Heatwave, drought, and geographically unique disaster hazards were not found in SNOMED CT.

Conclusion
To enhance clinical reporting of disaster hazards and climate-sensitive health outcomes, the poorly represented and missing concepts in SNOMED CT must be included. Documenting the impacts of climate change on public health using standardized clinical terminology provides the necessary real time data to capture climate-sensitive outcomes. These data are crucial for building climate-resilient healthcare systems, enhanced public health disaster responses and workflows, tracking individual health outcomes, supporting disaster risk reduction modeling, and aiding in disaster preparedness, response, and recovery efforts.
Evolution of Human Brain Left–Right Asymmetry: Old Genes with New Functions
Authors: Wang Jianguo , Ma Sidi , Yu Peijie , He Xionglei 
Published: August 2023

Abstract
The human brain is generally anatomically symmetrical, boasting mirror-like brain regions in the left and right hemispheres. Despite this symmetry, fine-scale structural asymmetries are prevalent and are believed to be responsible for distinct functional divisions within the brain. Prior studies propose that these asymmetric structures are predominantly primate specific or even unique to humans, suggesting that the genes contributing to the structural asymmetry of the human brain might have evolved recently. In our study, we identified approximately 1,500 traits associated with human brain asymmetry by collecting paired brain magnetic resonance imaging features from the UK Biobank. Each trait is measured in a specific region of one hemisphere and mirrored in the corresponding region of the other hemisphere. Conducting genome-wide association studies on these traits, we identified over 1,000 quantitative trait loci. Around these index single nucleotide polymorphisms, we found approximately 200 genes that are enriched in brain-related Gene Ontology terms and are predominantly upregulated in brain tissues. Interestingly, most of these genes are evolutionarily old, originating just prior to the emergence of Bilateria (bilaterally symmetrical animals) and Euteleostomi (bony vertebrates with a brain), at a significantly higher ratio than expected. Further analyses of these genes reveal a brain-specific upregulation in humans relative to other mammalian species. This suggests that the structural asymmetry of the human brain has been shaped by evolutionarily ancient genes that have assumed new functions over time.
Non-infectious uveitis referred for pediatric rheumatologic assessment and management: A Portuguese retrospective study
Authors: Gonçalves Hugo , Alves Sérgio , Correia-Costa Liane , Miranda Vasco , Zilhão Carla 
Published: August 2023

ABSTRACT

Background
Pediatric uveitis poses challenges in diagnosis and treatment due to asymptomatic or oligosymptomatic presentations and high rates of intraocular complications.

Objectives
This study aimed to characterize clinical manifestations and treatment approaches of pediatric uveitis patients in a northern Portuguese tertiary hospital.

Methodology
A retrospective study was conducted involving 41 patients diagnosed with uveitis between 2006 and 2021. All individuals identified by the Opthalmology department were referred to Pediatric Rheumatology outpatient clinic. Demographic, clinical, treatment, and intraocular complications data were collected.

Results
Of the patients, 78% had anterior uveitis, 17% had panuveitis, and 5% had intermediate uveitis. Uveitis associated with juvenile idiopathic arthritis (JIA) was the most common cause (43.9%), predominantly in the oligoarticular, anti-nuclear antibody-positive subgroup. Complications were identified in 80.5% of the patients. Uveitis associated with JIA was diagnosed earlier [5.0 years (3.0–10.5) vs. 9.0 years (5.5–14.0), P = .036], more frequently in asymptomatic patients (71% vs. 23%, P = .010), had a more insidious installation (71% vs. 17%, P = .004), and required more tumor necrosis factor (TNF) inhibitor treatment (70% vs. 39%, P = .027).

Conclusion
The high rates of intraocular complications and systemic pathology association highlight the need for a combined approach of ophthalmology and pediatric rheumatology in the diagnosis and treatment of pediatric uveitis.
The genomic distribution of transposable elements is driven by spatially variable purifying selection
Authors: Langmüller Anna M , Nolte Viola , Dolezal Marlies , Schlötterer Christian 
Published: August 2023

Abstract
It is widely accepted that the genomic distribution of transposable elements (TEs) mainly reflects the outcome of purifying selection and insertion bias (1). Nevertheless, the relative importance of these two evolutionary forces could not be tested thoroughly. Here, we introduce an experimental system, which allows separating purifying selection from TE insertion bias. We used experimental evolution to study the TE insertion patterns in Drosophila simulans founder populations harboring 1040 insertions of an active P-element. After 10 generations at a large population size, we detected strong selection against P-element insertions. The exception were P-element insertions in genomic regions for which a strong insertion bias has been proposed (2–4). Because recurrent P-element insertions cannot explain this pattern, we conclude that purifying selection, with variable strength along the chromosomes, is the major determinant of the genomic distribution of P-elements. Genomic regions with relaxed purifying selection against P-element insertions exhibit normal levels of purifying selection against base substitutions. This suggests that different types of purifying selection operate on base substitutions and P-element insertions. Our results highlight the power of experimental evolution to understand basic evolutionary processes, which are difficult to infer from patterns of natural variation alone.
Binding and detoxification efficiency of albumin decline after haemodialysis
Authors: Boss Kristina , Waterstradt Katja , Schnurr Kerstin , Paar Margret , Stolpe Susanne , Ickerott Philipp , Wieneke Ulrike , Spitthöver Ralf , Oettl Karl , Kribben Andreas 
Published: August 2023

ABSTRACT

Background
Albumin, as the most abundant plasma protein, represents a target structure for both drug and physicochemical therapeutic approaches to eliminate uraemic toxins more efficiently. Potentially, this approach could reduce mortality of haemodialysis patients. However, little is known about albumin functional properties in these patients and its alteration by haemodialysis treatment.

Methods
The binding and detoxification efficiency of albumin were assessed by electron paramagnetic resonance spectroscopy using a spin-labelled fatty acid. Binding efficiency (BE) reflects strength and amount of bound fatty acids under certain ethanol concentration. Detoxification efficiency (DTE) reflects the molecular flexibility of the patient's albumin molecule, thus the ability to change the conformation depending on ethanol concentration. Percentage of BE and DTE are depicted in relation to healthy individuals (100%).

Results
Fifty-eight patients (59% male, median age 68 years, median time on haemodialysis 32 months) were included in the study. Before haemodialysis treatment, albumin binding and detoxification efficiency were substantially below healthy individuals [median BE 52% (interquartile range, IQR, 45%–59%); median DTE 38% (IQR 32–49%)]. After haemodialysis treatment, median BE and DTE significantly decreased [BE 28% (IQR 20–41%); DTE 11% (IQR 7%–27%; P &lt; .001)]. BE and DTE decline after haemodialysis was not dependent on age, sex or treatment modalities, but was to a certain extent on the level of non-esterified fatty acids.

Conclusion
Albumin binding and detoxification efficiency of fatty acids in maintenance haemodialysis patients were substantially below those in healthy individuals and even declined after dialysis treatment. These findings might be helpful when considering new therapeutic approaches in maintenance haemodialysis patients.
Cryptococcal Meningitis in Young, Immunocompetent Patients: A Single-Center Retrospective Case Series and Review of the Literature
Authors: Stack Matthew , Hiles Jon , Valinetz Ethan , Gupta Samir K , Butt Saira , Schneider Jack G 
Published: August 2023

Abstract

Background
Cryptococcal meningitis is an uncommon but serious infection with high mortality and morbidity. Classically described in immunocompromised patients, including those with solid organ transplants or HIV/AIDS, cryptococcosis has also been reported in young and otherwise healthy patients, albeit rarely.

Methods
We retrospectively searched for all cases of cryptococcal meningitis in young (≤50 years) and previously healthy patients with no known immunocompromising conditions from January 2015 to January 2022 at Indiana University Health (IU Health). Additionally, a PubMed literature review was performed with the keywords “cryptococcal meningitis” and “immunocompetent” from January 1988 to January 2022. Clinical courses, including outcomes and treatment regimens, were evaluated.

Results
We identified 4 local cases of cryptococcal meningitis in otherwise healthy patients age ≤50 years. Three cases were due to Cryptococcus neoformans, with 1 experiencing a postinfectious inflammatory response syndrome (PIIRS). The PubMed search identified 51 additional cases, with 32 (63%) being caused by Cryptococcus neoformans and 8 (17%) by Cryptococcus gattii. Of the 51 cases, only 2 resulted in death directly due to cryptococcosis. Fifteen (29%) had PIIRS, with steroid treatment documented in 11 of 15. Antifungal induction regimens and duration were varied but predominately consisted of amphotericin and flucytosine, with a mean induction duration of 5.0 weeks.

Conclusions
Cryptococcal meningitis in young, previously healthy patients is likely under-recognized. PIIRS (akin to immune reconstitution inflammatory syndrome observed in HIV/AIDS) with prolonged recovery should be of concern. Determining risk factors for cryptococcosis in these patients remains elusive.
Humoral Immune Response to Messenger RNA Coronavirus Disease 2019 Vaccination Among Children Aged 5–11 Years in a Multisite Prospective Cohort Study, September 2021–September 2022
Authors: Lyski Zoe L , Porter Cynthia , Uhrlaub Jennifer L , Ellingson Katherine D , Jeddy Zuha , Gwynn Lisa , Rivers Patrick , Sprissler Ryan , Hegmann Kurt T , Coughlin Melissa , Fowlkes Ashley , Hollister James , LeClair Lindsay , Mak Josephine , Beitel Shawn C , Fuller Sammantha , Grant Lauren , Newes-Adeyi Gabriella , Yoo Young M , Olsho Lauren , Burgess Jefferey L , Caban-Martinez Alberto , Yoon Sarang , Britton Amadea , Gaglani Manjusha , Lutrick Karen 
Published: August 2023

Abstract

Background
The PROTECT study is a longitudinal cohort study initiated in July 2021 with weekly testing for severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) in 4 states: Arizona, Florida, exas, and Utah. This study aims to examine vaccine-elicited antibody response against postvaccination SARS-CoV-2 infections.

Methods
Children aged 5–11 years had serum collected 14–59 days after their second dose of monovalent Pfizer-BioNTech coronavirus disease 2019 messenger RNA vaccine. Vaccine-elicited antibodies were measured using the area under the curve (AUC) and end-point titer using enzyme-linked immunosorbent assay (receptor-binding domain [RBD] and S2) and surrogate neutralization assays against ancestral (WA1) and Omicron (BA.2).

Results
79 vaccinated participants (33 [41.7%] female; median age, 8.8 years [standard deviation, 1.9 years]), 48 (60.8%) were from Tucson, Arizona; 64 (81.0%) were non-Hispanic white; 63 (80.8%) attended school in person; 68 (86.1%) did not have any chronic conditions; and 47 (59.5%) were infected after vaccination. Uninfected children had higher AUCs against WA1 (P = .009) and Omicron (P = .02). The geometric mean and surrogate neutralization titer above the limit of detection was 346.0 for WA1 and 39.7 for Omicron, an 8.7-fold decrease (P &lt; .001). After adjustment of covariates in the WA1-specific model, we observed a 47% reduction in the odds of postvaccination infection for every standard deviation increase in RBD AUC (aOR, 0.53 [95% confidence interval, .29–.97) and a 69% reduction in the odds of infection for every 3-fold increase in RBD end titer (0.31 [.06–1.57]).

Conclusions
Children with higher antibody levels experienced a lower incidence of postvaccination SARS-CoV-2 infection.
Day–night fluctuations in choroid plexus transcriptomics and cerebrospinal fluid metabolomics
Authors: Edelbo Beatriche Louise , Andreassen Søren Norge , Steffensen Annette Buur , MacAulay Nanna 
Published: August 2023

AbstractThe cerebrospinal fluid (CSF) provides mechanical protection for the brain and serves as a brain dispersion route for nutrients, hormones, and metabolic waste. The CSF secretion rate is elevated in the dark phase in both humans and rats, which could support the CSF flow along the paravascular spaces that may be implicated in waste clearance. The similar diurnal CSF dynamics pattern observed in the day-active human and the nocturnal rat suggests a circadian regulation of this physiological variable, rather than sleep itself. To obtain a catalog of potential molecular drivers that could provide the day–night-associated modulation of the CSF secretion rate, we determined the diurnal fluctuation in the rat choroid plexus transcriptomic profile with RNA-seq and in the CSF metabolomics with ultraperformance liquid chromatography combined with mass spectrometry. We detected significant fluctuation of 19 CSF metabolites and differential expression of 2,778 choroid plexus genes between the light and the dark phase, the latter of which encompassed circadian rhythm–related genes and several choroid plexus transport mechanisms. The fluctuating components were organized with joint pathway analysis, of which several pathways demonstrated diurnal regulation. Our results illustrate substantial transcriptional and metabolic light–dark phase–mediated changes taking place in the rat choroid plexus and its encircling CSF. The combined data provide directions toward future identification of the molecular pathways governing the fluctuation of this physiological process and could potentially be harnessed to modulate the CSF dynamics in pathology.
OA04 Impact of pre-operative and perioperative parental preparation on the success of surgery in Tunisian children with scoliosis
Authors: Kammoun Khaled , Cherif Ines , Chaalia Malek Ben , Miladi Saoussen , Fazaa Alia , Boussaa Hiba , Makhlouf Yasmine , Jenzri Mourad , Hamdi Wafa , Abdelghani Kawther Ben , Laatar Ahmed 
Published: August 2023

Abstract

Background
Surgical intervention in a child represents a challenging and overwhelming event for the parents. Studies have shown that parents' preoperative preparation and satisfaction with their child's preoperative care are important components of a better clinical outcome and a stronger healthcare system.

Objective
To investigate the preoperative and postoperative preparation of parents whose children have scoliosis and have undergone surgery, and its possible association with postoperative clinical outcomes.

Methods
We conducted a cross-sectional study including children and adolescents who underwent surgery for scoliosis. Disease related characteristics were reported. Successful surgery was defined as a postoperative cobb angle less than or equal to half the initial cobb angle.
A questionnaire in the Tunisian dialect consisting of 10 Yes/No questions related to the preoperative and perioperative phase was established. The parents answered the questionnaire by telephone and informed oral consent was obtained.
An arbitrary cutoff of 7 positive answers was set to define a well-prepared parent.

Results
Thirty-six children were included (sex-ratio= 0.38, mean age at surgery = 16.05 ± 2.63 [11–23]). Etiologies of scoliosis were idiopathic (n = 29), neuromuscular (n = 4) and congenital (n = 3). Twenty-two children (61.1%) had successful surgery. Regarding the questionnaire, table 1 reports the parents’ answers to the 10 questions. Question two had the most negative response with 55.5% parents reporting that during the pre-operative phase, the medical staff didn’t mention the possible complications of the surgery. Thirty-three per cent of the parents reported that the doctor didn’t explain more about the operation and the post-operative course during the peri-operative period and about 30% revealed that, on the day of surgery, the doctor didn’t explain to them the induction of anesthesia. Forty-seven per cent of the parents mentioned that the doctor didn’t inform them about the possible restrictions in occupation for their child later. Seventy-two percent of parents had ≥7 positive answers indicating that they were well prepared for the surgery, among them 52% had children in whom surgery was successful, P = 0.14. No correlation was found between a good parental preparation and age at surgery (P = 0.736). A significant association was found between success of surgery and a positive response to Q9, P = 0.032.

Conclusion
In our series, the lack of information about the possible complications of the surgery, during the peri-operative phase and about the induction of anesthesia was noted. Interestingly, receiving sufficient information on how to provide postoperative care at home was significantly associated with a success of surgery.
E30 Sequelae of Juvenile Idiopathic Arthritis in a 20-year-old young woman
Authors: Koffi-Tessio V E S , Nouvedji K A , Oniankitan S , Diallo M , Atake A , Tagbor K C , Fianyo E , Kakpovi K , Houzou P , Oniankitan O , Mijiyawa M 
Published: August 2023

Abstract

Background
The long-term effects of Juvenile Idiopathic Arthritis are still largely unknown in our context. We set out to describe the long-term complications of a patient known to have Juvenile Idiopathic Arthritis who underwent follow up into adulthood.

Methods
Retrospective chart review

Results
We report a case of a female patient, now 20 years’ old who was diagnosed with Juvenile Idiopathic Arthritis since the age of 8 years. The patient initially received symptomatic treatment with paracetamol and non-steroidal anti-inflammatory drugs administered during flare-ups. After 12 years of follow up, she has failure to thrive (BMI 15.43 kg/m2) and delayed secondary sexual characteristics (menarche at 17, poorly developed chest). Other sequelae include bilateral boutonniere deformation of the 2nd and 3rd fingers, camel back deformity of the wrists, flexion contractures of the elbows, and bilateral coxopathy. She has tenderness and limited range of motion of shoulders, knees and ankles with bilateral thigh atrophy. She has a tender cervical spine painful and limited movement (C7-wall at 4.5 cm, tragus-acromion at 9 cm on the right and on the left).

Conclusion
This case highlights the importance of early control of the disease to mitigate against sequelae with negative impact on the academic and social life of the patient.

The implication to policy, practice, research and advocacy
The case illustrates the consequences of sub-optimal management of chronic inflammatory rheumatism in Africa, especially among children, due to lack of expertise and resources across the continent.

Ethics
We have no conflict of interest
E40 Chronic recurrent multifocal osteomyelitis: management disease in Tunisian child population
Authors: Kamoun Khaled , Arfa Wajdi , Oueslati Wajih , Maatallah Kawthar , Hamdi Wafa , Jenzri Mourad 
Published: August 2023

Abstract

Introduction
Chronic recurrent multifocal osteomyelitis (CRMO) is a rare disease especially in Tunisian population and occurs more often in children. It is a bone non-microbial inflammatory disease that frequently involves long bones, pelvis and spine. The autoimmune origin seems to be the most suggested pathogenic theory. It often manifests by multifocal bone pain with insidious onset and recurrent course

Objectives
The aim of the study was to highlight specific symptoms, frequent localization, investigations, imaging and multidisciplinary management of CRMO

Methods
We retrospectively reviewed five children on follow up for CRMO in our institution on both pediatric orthopedic and rheumatology department between 2012 and 2022. We have noted epidemiology features, symptoms, clinical manifestations, medical and orthopedic management, sequallae and outcome at last follow up for each case in order to identify specificities and correlations

Results
Five children, including 3 female and 2 males, were treated for such disease during this period. The mean age at diagnosis was 13.2 years (9–16). Duration of symptoms prior to diagnosis was 1–6 months. Inflammatory bone pain was present in all cases and isolated swelling in one case (clavicle). CRMO involves spine, femur, foot, humerus and clavicle and only two children present more than two locations. No correlation between age and location was noted. Radiographs were normal at presentation in four cases and showed reactive hyperostosis during the course of the disease in two cases. Whole-body MRI revealed some clinically non symptomatic localizations in three cases. The differential diagnoses were osteomyelitis, inflammatory arthritis, vertebral fracture and Ewing's sarcoma in one case. Microbiological examinations were negative in all cases. Biopsy, performed in two cases (spine, clavicle) showed non-specific inflammatory bone involvement. Non-steroidal anti-inflammatory drugs were used in four cases and salazopyrine in one case with durable remission at last follow up.
CRMO involved spine in two cases where brace has been used for a 6-month period. A mild progression of thoraco-lumbar kyphosis was noted in one case (local kyphosis from 6 to 10°).

Conclusion
Even if CRMO remains diagnosis of exclusion, it should be managed early to prevent functional sequellae especially in spine where orthosis is essential to prevent kyphosis and vertebrae collapses. Asymptomatic bone involvement can be revealed by whole body MRI. Non steroid anti-inflammatory drugs and salazopyrin in second intention seems to be effective to stabilize bone lesion.

Ethics
Informed consent was obtained for each patient for diffusing their imaging file in scientific congress