bluuebunny/crossref_metadata_2025_split huggingface dataset:
Management of Idiopathic Intracranial Hypertension: A Case Report
Authors: Huang Xiang-Ling , Tseng Pao-Hui , Wang Wan-Hsiang , Tsai Sheng-Tzung 
Published: June 2024

ABSTRACT

BACKGROUND: Idiopathic intracranial hypertension (IIH) is a neurological disorder characterized by elevated intracranial pressure, affecting predominantly obese women of childbearing age. Early recognition and comprehensive management are vital for preventing severe complications, particularly vision loss. METHODS: This study reports a case of a 27-year-old woman who presented with chronic headaches and blurred vision. Notable findings included headaches that were intensified upon waking and exacerbated by activities that elevated intracranial pressure. The patient also reported nausea, vomiting, transient visual obscurations, and pulsatile tinnitus. After a clinical examination, she was given a diagnosis of IIH. RESULTS: The patient underwent a lumbar-peritoneal shunt procedure to alleviate her symptoms in conjunction with medication treatment. This case study highlights the importance of a multidisciplinary approach in diagnosing and treating IIH. In particular, weight management emerged as a crucial preventive measure against IIH recurrence. CONCLUSION: A multidisciplinary team strategy can enhance outcomes and quality of life, accentuating the need for continued research into IIH recurrence, treatments, and wider implications.
Assessing the ripple effects of natural disasters on healthcare systems: a narrative review
Authors: Dagnino Filippo , Qian Zhiyu , Beatrici Edoardo 
Published: June 2024

Purpose of review
Natural disasters are on the rise, driven by shifts in climatic patterns largely attributed to human-induced climate change. This relentless march of climate change intensifies the frequency and severity of these disasters, heightening the vulnerability of communities and causing significant harm to both lives and socio-economic systems. Healthcare services are particularly strained during extreme weather events, with impacts felt not only on infrastructure but also on patient care.

Recent findings
This narrative review explored the overarching impact of natural disasters on healthcare infrastructure. We delved into how these disasters impact diverse health conditions, the healthcare systems of low and middle-income countries (LMICs), the psychological toll on both clinicians and survivors, and the ramifications for end-of-life care.

Summary
Natural disasters significantly impact healthcare, especially in LMICs due to their limited resources. Patients with cancer or chronic diseases struggle to access care following a natural disaster. Those in need for palliative care experience delay due to shortages in medical resources. Psychological consequences like posttraumatic stress disorder on disaster survivors and healthcare providers highlight the need for mental health support. Addressing challenges requires proactive disaster preparedness policies and urgent public policy initiatives are needed for optimal disaster response.
Response Rates by Condom Use Measurement Type Among Sexually Active Young Black Men Who Have Sex With Women
Authors: Ratnayake Aneeka , Kissinger Patricia 
Published: June 2024

Background
Measuring condom use accurately is important to understanding sexual behaviors; however, there is still no consensus on the criterion standard of condom use measurement. In this study, authors aimed to investigate if nonresponse rates were higher when absolute or relative frequency condom use questions were used.

Methods
This study used Check It study data of Black men who have sex with women aged 15 to 26 years in New Orleans, LA. All men underwent a survey of sexual behavior, which included questions on condom use. From January 2017 to August 2019, participants were asked for the number of sex acts during which they had used a condom (absolute frequency question), and after August 2019 until March 2020, this was changed to response options of “never,” “sometimes,” or “always” (relative frequency question). Participants could refuse to answer the question; the rate of refusal was tabulated by question type to determine if nonresponse rates differed.

Results
There were 1907 participants included in the study, with data on 2957 partnerships. Of those asked the relative frequency question, 92.7% responded compared with 86.1% who were asked the absolute frequency. In generalized estimating equation modeling, those asked the relative frequency question had 2.42 (95% confidence interval, 1.42–4.13; P < 0.001) greater odds of response than those asked the absolute frequency question.

Conclusions
Relative frequency questions may be more likely to elicit a response, in research among this population.

Key Message
There is no current criterion standard for measuring condom use in surveys. This study demonstrated that asking participants about their condom use qualitatively (i.e., whether they use condoms “never,” “sometimes,” or “always”), as opposed to asking them to provide the number of sex acts during which they used a condom, was associated with lower rates of nonresponse. Investigators should consider using qualitative condom use questions to maximize response rates.
Sexually Transmitted Infection Prevention Services for Women Experiencing Homelessness: A Safety-Net Health System Quality Improvement Initiative
Authors: Diener Anelise K. , Saverine Andrew J. , Akpan Idara N. , Brilleslyper Emma , Griner Stacey B. , Thompson Erika L. 
Published: June 2024

Background
Consistent use of sexually transmitted infection (STI) prevention methods is proven to decrease transmission of STIs. However, rates continue to rise within the United States, particularly among high-risk populations. Women experiencing homelessness may face barriers to access reproductive health care. This quality improvement initiative sought to examine perceived barriers to STI prevention and opportunities for expanding STI prevention services and education for women experiencing homelessness.

Methods
Surveys were administered during a 1-day health event in August 2023 at a clinic that predominately serves persons experiencing homelessness in North Texas. Respondents included adult, nonpregnant, English-speaking individuals assigned female at birth with a history of homelessness. Demographic characteristics, sexual history, participants' knowledge of STIs, and perceived barriers to obtaining sexual health care were gathered. Participants had the opportunity to suggest methods for improving access to STI care.

Results
Among participants (n = 36), more than half (59%) were tested for STIs within the past year. Most preferred condoms for STI prevention. The average knowledge score among questions about STI transmission and methods of prevention was 65%, with the lowest scores observed among trichomoniasis (39% correct), preexposure prophylaxis (31%), and dental dams (25%). Common barriers included cost (33%) and side effects (33%). One-third (36%) of participants reported no barriers to the use of prevention products.

Conclusions
Findings highlight the need for educational opportunities among this population to increase knowledge of STI transmission and prevention. Patients may benefit from clinicians emphasizing education and increasing the visibility of services.
Multifocal tuberculosis revealed by a sternal swelling in an immunocompetent child
Authors: CHEHRASTANE GHIZLANE , Benaissa Elmostafa , Radi Abdelilah , EL Hassani Amal , Elouennass Mostafa 
Published: June 2024

Tuberculosis (TB) is one of the most common pathogens of bacterial lung infections, especially in underdeveloped nations like Morocco, where the incidence of TB was 97 cases per 100,000 persons in 2019. Thanks to its national TB prevention and control plan, Morocco was able to achieve remarkable progress in the management of TB with an 80% reduction in the total number of patients diagnosed with TB between 1980 and 2018. The national plan also allowed us to reach and maintain a therapeutic rate above 86% since 2002. Sternal TB is a rare clinical condition accounting for 1% of all musculoskeletal TB cases. Due to its rarity and the lack of awareness of clinical presentations, the diagnosis of sternal TB can be quite complex. We describe the case of a 14-year-old Moroccan patient consulting in the Military Hospital Mohammed V-Rabat with central chest pain for four months which was not associated with breathing, physical exercise, or eating. The patient also had a history of asthenia, fever, and weight loss. A Computed Tomography (CT) scan of the chest showed a destructive lesion of the sternum. Afterward, a chirurgical biopsy was performed and enabled to confirm the microbiological diagnosis of TB with the realization of the real-time Polymerase Chain Reaction (PCR). The antitubercular therapy was given to the patient who had complete resolution of symptoms. This condition should be included in the differential diagnosis of chronic chest pain that mimics costochondritis particularly in patients from endemic areas.
Rapid functional remodeling of the targeted contralesional hemisphere induced by one week of noninvasive closed-loop neurofeedback guides motor recovery in post-stroke patients with chronic motor impairment: a phase I trial
Authors: Takasaki Kenichi , Iwama Seitaro , Liu Fumio , Ogura-Hiramoto Miho , Okuyama Kohei , Kawakami Michiyuki , Mizuno Katsuhiro , Kasuga Shoko , Noda Tomoyuki , Morimoto Jun , Liu Meigen , Ushiba Junichi 
Published: June 2024

AbstractPost-stroke hemiplegia of the upper extremities continues to pose a significant therapeutic hurdle. Contralesional uncrossed corticospinal pathways (CST) are involved in the recovery processes. Here, we test the feasibility, safety, and preliminary efficacy of targeted upregulation of uncrossed CST excitability using self-modulation training of cortical activities. In this phase I trial, eight individuals with persistent (1-8 years) severe post-stroke motor disability, who did not respond to conventional rehabilitation, voluntarily actuated their affected shoulder using a closed-loop, noninvasive digital connection, bridging the contralesional motor cortex (M1) and an exoskeleton robot. While patients attempted to elevate the affected arm, scalp electroencephalogram signals over the contralesional M1 were processed online to provide them with feedback on induced excitability change. Extensive neurophysiological examinations were conducted to evaluate the intervention effect using whole-head EEG and magnetic stimulations. The digital connection reconstructed neural pathways, allowing arm elevation contingent on voluntary upregulation of contralesional M1 excitability without any adverse effects. As evidenced by clinical score increases and neurophysiological examinations, seven days of consecutive system use resulted in rapid, sustained, and clinically significant improvement in motor function when removed from the system and promoted contralesional M1 functional remodeling. This closed-loop system is safe, feasible, and a promising intervention that recruits intact neural resources to allow patients to recover upper-extremity motor abilities. Larger clinical trials are needed to confirm these results.
Novel type 2 diabetes prediction score based on traditional risk factors and circulating metabolites: Model derivation and validation in two large cohort studies
Authors: Xie Ruijie , Herder Christian , Sha Sha , Peng Lei , Brenner Hermann , Schöttker Ben 
Published: June 2024

AbstractImportanceThe predictive value of metabolomics quantified by nuclear magnetic resonance (NMR) for type 2 diabetes risk has not been assessed before. In addition, previous studies with other metabolomics quantification methods did not have an external validation cohort, which leaves doubts about the robustness of the derived models in other settings.ObjectiveThis project aimed to evaluate the incremental predictive value of metabolomic biomarkers for assessing the 10-year risk of type 2 diabetes when added to the clinical Cambridge Diabetes Risk Score (CDRS), which includes HbA1c.Design, Setting, and ParticipantsWe utilized 60,362 participants of the UK Biobank (UKB) for model derivation, 25,870 participants of the UKB for internal validation and 4,383 participants from the German ESTHER cohort for external validation.ExposuresA total of 249 NMR-derived metabolites were quantified using nuclear magnetic resonance (NMR) spectroscopy.Main Outcomes and MeasuresThe main outcome was 10-year type 2 diabetes incidence.ResultsEleven metabolomic biomarkers, including glycolysis-related metabolites, ketone bodies, amino acids, and lipids, were selected with LASSO regression. In internal validation within the UKB, adding these metabolites Harrel’s C-index of the clinical CDRS from 0.815 to 0.834 (P<0.001) and the continuous net reclassification index (NRI) was 39.8% (P<0.001). External validation in the ESTHER cohort showed a comparable C-index increase from 0.770 to 0.798 (P<0.001) and a continuous NRI of 33.8% (P<0.001).Conclusions and RelevanceAdding 11 biomarkers, mainly from glucose and lipid metabolism, to the clinical CDRS led to a novel type 2 diabetes prediction model, the “UK Biobank Diabetes Risk Score” (UKB-DRS), which substantially outperformed the clinical CDRS. As only very limited clinical information and a blood sample are needed for the UKB-DRS, and as high-throughput NMR metabolomics are becoming increasingly available at low costs, this model has considerable potential for routine clinical application in diabetes risk assessment.Key PointsQuestionCan the inclusion of metabolites measured in blood samples with NMR spectroscopy improve the accuracy of the clinical Cambridge Diabetes Risk Score (CDRS), which is already a good prediction model including the main diabetes risk indicator HbA1c?FindingsThe novel UK Biobank Diabetes Risk Score (UKB-DRS), which includes traditional diabetes risk factors and 11 metabolites, demonstrated significantly enhanced predictive performance compared to the clinical CDRS, both in the UK Biobank and the German ESTHER cohort.MeaningThe novel UKB-DRS could significantly improve the validity of early identification of individuals at risk for type 2 diabetes and guide clinicians and people at risk of diabetes in the choice of preventive measures.
DNA methylation models of protein abundance across the lifecourse
Authors: Waterfield Scott , Yousefi Paul , Suderman Matt 
Published: June 2024

AbstractBackgroundMultiple studies have shown that DNA methylation (DNAm) models of protein abundance can be informative about exposure, phenotype and disease risk. Here we investigate the capacity of DNAm to capture non-genetic variation in protein abundance across the lifecourse.MethodsWe evaluated the performance of 14 previously published DNAm models of protein abundance (episcores) in peripheral blood from a large adult population using the Avon Longitudinal Study of Parents and Children (ALSPAC) at ages 7-24 and their mothers antenatally and in middle age (N range = 145-1464). Episcore-protein associations were evaluated with and without adjustment for genetics. New age-specific episcores were trained in ALSPAC and evaluated at different ages.ResultsOf the 14 Gadd episcores, 10 generated estimates associated with abundance in middle age, 9 at age 24, and none at age 9. Eight of these episcores explained variation beyond genotype in adulthood (6 at age 24; 7 at midlife). At age 9, the abundances of 22 proteins could be modelled by DNAm, 7 beyond genotype of which one trained model generated informative estimates at ages 24 and in middle age. At age 24, 31 proteins could be modelled by DNAm, 19 beyond genotype, of which 5 trained models generated informative estimates at age 9 and 8 in middle age. In middle age, 23 proteins could be modelled, 13 beyond genotype, of which 3 were informative at age 9 and 7 at age 24.ConclusionsWe observed that episcores performed better at older ages than in children with several episcores capturing non-genetic variation at all ages.
Investigating the variability of physiological response functions across individuals and brain regions in functional magnetic resonance imaging
Authors: Carlton Laura B. , Mitsis Georgios D. , Kassinopoulos Michalis 
Published: June 2024

AbstractFunctional magnetic resonance imaging (fMRI) is a valuable neuroimaging tool for studying brain function and functional connectivity between brain regions. However, the blood oxygen level dependent (BOLD) signal used to generate the fMRI images can be influenced by various physiological factors, such as cardiac and respiratory activity. These physiological effects, in turn, influence the resulting functional connectivity patterns, making physiological noise correction a crucial step in the preprocessing of fMRI data. When concurrent physiological recordings are available, researchers often generate nuisance regressors to account for the effect of heart rate and respiratory variations by convolving physiological response functions (PRF) with the corresponding physiological signals. However, it has been suggested that the PRF characteristics may vary across subjects and different regions of the brain, as well as across scans of the same subject. To investigate the dependence of PRFs on these factors, we examine the performance of several different PRF models, in terms of BOLD variance explained, using resting-state fMRI data from the Human Connectome Project (N=100). We examined both one-input (heart rate or respiration) and two-input (heart rate and respiration) PRF models and show that allowing PRF curves to vary across subjects and brain regions generally improves PRF model performance. For one-input models, the improvement in model performance gained by allowing spatial variability was most prominent for respiration, particularly for a subset of the subjects (about a third) examined. Allowing for subject-specific or regional variability in the cardiac response function resulted in a significant model performance improvement only when using a two-input PRF model. Overall, our results highlight the importance of considering spatial and subject-specific variability in PRFs when analyzing fMRI data, particularly regarding respiratory-related fluctuations.
A bovine model of rhizomelic chondrodysplasia punctata caused by a deep intronic splicing mutation in theGNPATgene
Authors: Boulling Arnaud , Corbeau Julien , Grohs Cécile , Barbat Anne , Mortier Jérémy , Taussat Sébastien , Plassard Vincent , Leclerc Hélène , Fritz Sébastien , Leymarie Cyril , Bourgeois-Brunel Lorraine , Ducos Alain , Guatteo Raphaël , Boichard Didier , Boussaha Mekki , Capitan Aurélien 
Published: June 2024

AbstractBackgroundGenetic defects that occur naturally in livestock species provide valuable models for investigating the molecular mechanisms underlying rare human diseases. Livestock breeds are subject to the regular emergence of recessive genetic defects, due to their low genetic variability, while their large population sizes provide easy access to case and control individuals, as well as massive amounts of pedigree, genomic and phenotypic information recorded for selection purposes. In this study, we investigated a lethal form of recessive chondrodysplasia observed in 21 stillborn calves of the Aubrac breed of beef cattle.ResultsDetailed clinical examinations revealed proximal limb shortening, epiphyseal calcific deposits and other clinical signs consistent with human rhizomelic chondrodysplasia punctata, a rare peroxisomal disorder caused by recessive mutations in one of five genes (AGPS, FAR1,GNPAT,PEX5andPEX7). Using homozygosity mapping, whole genome sequencing of two affected individuals, and filtering for variants found in 1,867 control genomes, we reduced the list of candidate variants to a single deep intronic substitution inGNPAT(g.4,039,268G>A on Chromosome 28 of the ARS-UCD1.2 bovine genome assembly). For verification, we performed large-scale genotyping of this variant using a custom SNP array and found a perfect genotype-phenotype correlation in 21 cases and 26 of their parents, and a complete absence of homozygotes in 1,195 Aubrac controls. The g.4,039,268A allele segregated at a frequency of 2.6% in this population and was absent in 375,535 additional individuals from 17 breeds. Then, usingin vivoandin vitroanalyses, we demonstrated that the derived allele activates cryptic splice sites within intron 11 resulting in abnormal transcripts. Finally, by mining the wealth of records available in the French bovine database, we demonstrated that this deep intronic substitution was responsible not only for stillbirth but also for juvenile mortality in homozygotes and had a moderate but significant negative effect on muscle development in heterozygotes.ConclusionsWe report the first spontaneous large animal model of rhizomelic chondrodysplasia punctata and provide both a diagnostic test to counter-select this defect in cattle and interesting insights into the molecular consequences of complete or partial GNPAT insufficiency in mammals.
Longitudinal analysis of body weight reveals homeostatic and adaptive traits linked to lifespan in diversity outbred mice
Authors: Prateek G.V. , Chen Zhenghao , Wright Kevin , Di Francesco Andrea , Jojic Vladimir , Churchill Gary A. , Raj Anil 
Published: June 2024

AbstractDense temporal measurements of physiological health using simple and consistent assays are essential to characterize biological processes associated with aging and evaluate the effectiveness of interventions on these processes. We measured body weight in 960 genetically diverse mice, every 7-10 days over the full course of their lifespan. We used a state space model to characterize the trajectories of body weight throughout life and derived 10 novel traits capturing the dynamics of body weight that are both associated with lifespan and heritable. Genetic mapping of these traits identified 12 genomic loci, none of which were previously mapped to body weight. We observed that the ability to stabilize body weight, despite fluctuations in energy intake and expenditure, is positively associated with lifespan and mapped to a genomic locus linked to energy homeostasis. Our results highlight the importance of dense longitudinal measurements of physiological traits for monitoring health and aging.