bluuebunny/crossref_metadata_2025_split huggingface dataset:
Growth impairment in children with atrophic autoimmune thyroiditis and pituitary hyperplasia
Authors: Corica Domenico , Abbate Tiziana , Kucharska Anna Malgorzata , Wojcik Malgorzata , Vierucci Francesco , Valenzise Mariella , Li Pomi Alessandra , Pepe Giorgia , Tuli Gerdi , Pyrzak Beata , Aversa Tommaso , Wasniewska Malgorzata 
Published: April 2024

Abstract
Background
Atrophic autoimmune thyroiditis (AAT) is a rare phenotype of autoimmune thyroiditis (AT) in pediatric age. AAT occurs without thyroid enlargement leading to a delay in its diagnosis. Growth impairment is infrequent in autoimmune thyroiditis, if timely diagnosed. Prolonged severe hypothyroidism is a rare cause of pituitary hyperplasia (PH) in childhood. Loss of thyroxine negative feedback causes a TRH-dependent hyperplasia of pituitary thyrotroph cells resulting in adenohypophysis enlargement. A transdifferentiation of pituitary somatotroph cells into thyrotroph cells could explain growth failure in those patients.

Methods
Twelve patients were retrospectively evaluated at five Italian and Polish Centres of Pediatric Endocrinology for height growth impairment. In all Centres, patients underwent routine clinical, biochemical and radiological evaluations.

Results
At the time of first assessment, the 75% of patients presented height growth arrest, while the remaining ones showed growth impairment. The study of thyroid function documented a condition of hypothyroidism, due to AT, in the entire cohort, although all patients had no thyroid enlargement. Thyroid ultrasound showed frankly atrophic or normal gland without goiter. Cerebral MRI documented symmetrical enlargement of the adenohypophysis in all patients and a homogeneous enhancement of the gland after the administration of Gadolinium-DPTA. Replacement therapy with levothyroxine was started and patients underwent close follow-up every 3 months. During the 12 months of follow-up, an improvement in terms of height growth has been observed in 88% of patients who continued the follow-up. Laboratory findings showed normalization of thyroid function and the control brain MRI documented complete regression of PH to a volume within the normal range for age and sex.

Conclusions
This is the largest pediatric cohort with severe autoimmune primary hypothyroidism without goiter, but with pituitary hyperplasia in which significant growth impairment was the most evident presenting sign. AAT phenotype might be correlated with this specific clinical presentation. In youths with growth impairment, hypothyroidism should always be excluded even in the absence of clear clinical signs of dysthyroidism.
Comparison of different genetic testing modalities applied in paediatric patients with steroid-resistant nephrotic syndrome
Authors: Cheng Xueting , Chen Jiahuan , Yang Xueying , Chan Han , Yang Xia , Jiao Jia , Wang Anshuo , Zhang Gaofu , Chen Xuelan , Li Xiaoqin , Wang Mo , Yang Baohui , Yang Haiping , Li Qiu 
Published: April 2024

Abstract
Background
Steroid-resistant nephrotic syndrome (SRNS) are monogenic in some cases, however, there are still no clear guidelines on genetic testing in the clinical practice of SRNS in children.

Methods
Three hundred thirty-two children were diagnosed with SRNS, and all children underwent genetic testing, including gene panels and/or whole-exome/genome sequencing (WES/WGS), during treatment. We analysed the relationship between clinical manifestation and genotype, and compared different genetic testing methods’ detection rates and prices.

Results
In this study, 30.12% (100/332) of children diagnosed with SRNS had monogenic causes of the disease. With 33.7% (122/332) of children achieving complete remission, 88.5% (108/122) received steroids combined with tacrolimus (TAC). In detectability, WES increased by 8.69% (4/46) on gene panel testing, while WGS increased by 4.27% (5/117) on WES, and WES was approximately 1/7 of the price of WGS for every further 1% increase in pathogenicity.

Conclusions
We verified that steroids combined with TAC were the most effective option in paediatric SRNS. In detection efficiency, we found that WGS was the highest, followed by WES. The panel was the lowest, but the most cost-effective method when considering the economic-benefit ratio, and thus it should be recommended first in SRNS.
Respiratory drive heterogeneity associated with systemic inflammation and vascular permeability in acute respiratory distress syndrome
Authors: Baedorf-Kassis Elias , Murn Michael , Dzierba Amy L. , Serra Alexis L. , Garcia Ivan , Minus Emily , Padilla Clarissa , Sarge Todd , Goodspeed Valerie M. , Matthay Michael A. , Gong Michelle N. , Cook Deborah , Loring Stephen H. , Talmor Daniel , Beitler Jeremy R. ,   for the EPVent-2 Study Group, Talmor Daniel , Sarge Todd , Goodspeed Valerie , Fish Emily , Jinadasa Sayuri , Ritz Ray , Previtera Joseph , Gong Michelle N. , Lee Lawrence , Beitler Jeremy R. , Cook Deborah , Clarke France , Piraino Tom , Levitt Joseph , Vojnik Rosemary , Park Pauline , Brierley Kristin , Haas Carl , Weirauch Andrew , Fan Eddy , Matte Andrea , Harris R. Scott , Kone Mamary , Heard Stephen , Longtine Karen , Lellouche Franćois , Bouchard Pierre-Alexandre , Rubinson Lewis , McGrain Jennifer , Griesdale Donald E. G. , Foster Denise , Oeckler Richard , Amsbaugh Amy , Jimenez Edgar , Danesh Valerie 
Published: April 2024

Abstract
Background
In acute respiratory distress syndrome (ARDS), respiratory drive often differs among patients with similar clinical characteristics. Readily observable factors like acid–base state, oxygenation, mechanics, and sedation depth do not fully explain drive heterogeneity. This study evaluated the relationship of systemic inflammation and vascular permeability markers with respiratory drive and clinical outcomes in ARDS.

Methods
ARDS patients enrolled in the multicenter EPVent-2 trial with requisite data and plasma biomarkers were included. Neuromuscular blockade recipients were excluded. Respiratory drive was measured as PES0.1, the change in esophageal pressure during the first 0.1 s of inspiratory effort. Plasma angiopoietin-2, interleukin-6, and interleukin-8 were measured concomitantly, and 60-day clinical outcomes evaluated.

Results
54.8% of 124 included patients had detectable respiratory drive (PES0.1 range of 0–5.1 cm H2O). Angiopoietin-2 and interleukin-8, but not interleukin-6, were associated with respiratory drive independently of acid–base, oxygenation, respiratory mechanics, and sedation depth. Sedation depth was not significantly associated with PES0.1 in an unadjusted model, or after adjusting for mechanics and chemoreceptor input. However, upon adding angiopoietin-2, interleukin-6, or interleukin-8 to models, lighter sedation was significantly associated with higher PES0.1. Risk of death was less with moderate drive (PES0.1 of 0.5–2.9 cm H2O) compared to either lower drive (hazard ratio 1.58, 95% CI 0.82–3.05) or higher drive (2.63, 95% CI 1.21–5.70) (p = 0.049).

Conclusions
Among patients with ARDS, systemic inflammatory and vascular permeability markers were independently associated with higher respiratory drive. The heterogeneous response of respiratory drive to varying sedation depth may be explained in part by differences in inflammation and vascular permeability.
spVC for the detection and interpretation of spatial gene expression variation
Authors: Yu Shan , Li Wei Vivian 
Published: April 2024

AbstractSpatially resolved transcriptomics technologies have opened new avenues for understanding gene expression heterogeneity in spatial contexts. However, existing methods for identifying spatially variable genes often focus solely on statistical significance, limiting their ability to capture continuous expression patterns and integrate spot-level covariates. To address these challenges, we introduce spVC, a statistical method based on a generalized Poisson model. spVC seamlessly integrates constant and spatially varying effects of covariates, facilitating comprehensive exploration of gene expression variability and enhancing interpretability. Simulation and real data applications confirm spVC’s accuracy in these tasks, highlighting its versatility in spatial transcriptomics analysis.
Who am I with my Lewy bodies? The insula as a core region of the self-concept networks
Authors: Tisserand Alice , Blanc Frédéric , Mondino Mary , Muller Candice , Durand Hélène , Demuynck Catherine , Loureiro de Sousa Paulo , Ravier Alix , Sanna Léa , Botzung Anne , Philippi Nathalie 
Published: April 2024

Abstract
Background
Dementia with Lewy bodies (DLB) is characterized by insular atrophy, which occurs at the early stage of the disease. Damage to the insula has been associated with disorders reflecting impairments of the most fundamental components of the self, such as anosognosia, which is a frequently reported symptom in patients with Lewy bodies (LB). The purpose of this study was to investigate modifications of the self-concept (SC), another component of the self, and to identify neuroanatomical correlates, in prodromal to mild DLB.

Methods
Twenty patients with prodromal to mild DLB were selected to participate in this exploratory study along with 20 healthy control subjects matched in terms of age, gender, and level of education. The Twenty Statements Test (TST) was used to assess the SC. Behavioral performances were compared between LB patients and control subjects. Three-dimensional magnetic resonance images (MRI) were acquired for all participants and correlational analyses were performed using voxel-based morphometry (VBM) in whole brain and using a mask for the insula.

Results
The behavioral results on the TST showed significantly impaired performances in LB patients in comparison with control subjects (p < .0001). Correlational analyses using VBM revealed positive correlations between the TST and grey matter volume within insular cortex, right supplementary motor area, bilateral inferior temporal gyri, right inferior frontal gyrus, and left lingual gyrus, using a threshold of p = .001 uncorrected, including total intracranial volume (TIV), age, and MMSE as nuisance covariates. Additionally, correlational analysis using a mask for the insula revealed positive correlation with grey matter volume within bilateral insular cortex, using a threshold of p = .005.

Conclusions
The behavioral results confirm the existence of SC impairments in LB patients from the prodromal stage of the disease, compared to matched healthy controls. As we expected, VBM analyses revealed involvement of the insula, among that of other brain regions, already known to be involved in other self-components. While this study is exploratory, our findings provide important insights regarding the involvement of the insula within the self, confirming the insula as a core region of the self-networks, including for high-order self-representations such as the SC.
Longitudinal validation of cognitive reserve proxy measures: a cohort study in a rural Chinese community
Authors: Chen Hao , Hu Jin , Gui Shiqi , Li Qiushuo , Wang Jing , Yang Xing , Yang Jingyuan 
Published: April 2024

Abstract
Background
While evidence supports cognitive reserve (CR) in preserving cognitive function, longitudinal validation of CR proxies, including later-life factors, remains scarce. This study aims to validate CR’s stability over time and its relation to cognitive function in rural Chinese older adults.

Methods
Within the project on the health status of rural older adults (HSRO), the survey included baseline assessment (2019) and follow-up assessment (2022). 792 older adults (mean age: 70.23 years) were followed up. The confirmatory factor analysis (CFA) was constructed using cognitive reserve proxies that included years of formal education, social support, hobbies, and exercise. We examined the longitudinal validity of the CR factor using confirmatory factor analyses and measurement invariance and explored the association of CR with cognition using Spearman’s correlation and Generalized Estimating Equations (GEE).

Results
The results showed that CR’s CFA structure was stable over time (T0, χ2/df: 3.21/2; RMSEA: 0.02, and T1, χ2/df: 7.47/2; RMSEA: 0.05) and that it accepted both configural and metric invariance (Δχ2/df = 2.28/3, P = 0.52). In addition, it was found that CR had a stable positive relationship with cognitive function across time (T0, r = 0.54; T1, r = 0.49). Furthermore, longitudinal CR were associated with MMSE (β = 2.25; 95%CI = 2.01 ~ 2.49).

Conclusions
This study provided valuable evidence on the stability and validity of cognitive reserve proxy measures in rural Chinese older adults. Our findings suggested that cognitive reserve is associated with cognitive function over time and highlighted the importance of accumulating cognitive reserve in later life.
Genetic exploration of Dravet syndrome: two case report
Authors: Triono Agung , Herini Elisabeth Siti , Gunadi  
Published: April 2024

Abstract
Background
Dravet syndrome is an infantile-onset developmental and epileptic encephalopathy (DEE) characterized by drug resistance, intractable seizures, and developmental comorbidities. This article focuses on manifestations in two Indonesian children with Javanese ethnicity who experienced Dravet syndrome with an SCN1A gene mutation, presenting genetic analysis findings using next-generation sequencing.

Case presentation
We present a case series involving two Indonesian children with Javanese ethnicity whom had their first febrile seizure at the age of 3 months, triggered after immunization. Both patients had global developmental delay and intractable seizures. We observed distinct genetic findings in both our cases. The first patient revealed heterozygous deletion mutation in three genes (TTC21B, SCN1A, and SCN9A). In our second patient, previously unreported mutation was discovered at canonical splice site upstream of exon 24 of the SCN1A gene. Our patient’s outcomes improved after therapeutic evaluation based on mutation findings When comparing clinical manifestations in our first and second patients, we found that the more severe the genetic mutation discovered, the more severe the patient’s clinical manifestations.

Conclusion
These findings emphasize the importance of comprehensive genetic testing beyond SCN1A, providing valuable insights for personalized management and tailored therapeutic interventions in patients with Dravet syndrome. Our study underscores the potential of next-generation sequencing in advancing genotype–phenotype correlations and enhancing diagnostic precision for effective disease management.
Dissecting the respective roles of microbiota and host genetics in the susceptibility of Card9−/− mice to colitis
Authors: Danne C. , Lamas B. , Lavelle A. , Michel M.-L. , Da Costa G. , Pham Hang-Phuong , Lefevre A. , Bridonneau C. , Bredon M. , Planchais J. , Straube M. , Emond P. , Langella P. , Sokol H. 
Published: April 2024

Abstract
Background
The etiology of inflammatory bowel disease (IBD) is unclear but involves both genetics and environmental factors, including the gut microbiota. Indeed, exacerbated activation of the gastrointestinal immune system toward the gut microbiota occurs in genetically susceptible hosts and under the influence of the environment. For instance, a majority of IBD susceptibility loci lie within genes involved in immune responses, such as caspase recruitment domain member 9 (Card9). However, the relative impacts of genotype versus microbiota on colitis susceptibility in the context of CARD9 deficiency remain unknown.

Results
Card9 gene directly contributes to recovery from dextran sodium sulfate (DSS)-induced colitis by inducing the colonic expression of the cytokine IL-22 and the antimicrobial peptides Reg3β and Reg3γ independently of the microbiota. On the other hand, Card9 is required for regulating the microbiota capacity to produce AhR ligands, which leads to the production of IL-22 in the colon, promoting recovery after colitis. In addition, cross-fostering experiments showed that 5 weeks after weaning, the microbiota transmitted from the nursing mother before weaning had a stronger impact on the tryptophan metabolism of the pups than the pups’ own genotype.

Conclusions
These results show the role of CARD9 and its effector IL-22 in mediating recovery from DSS-induced colitis in both microbiota-independent and microbiota-dependent manners. Card9 genotype modulates the microbiota metabolic capacity to produce AhR ligands, but this effect can be overridden by the implantation of a WT or “healthy” microbiota before weaning. It highlights the importance of the weaning reaction occurring between the immune system and microbiota for host metabolism and immune functions throughout life. A better understanding of the impact of genetics on microbiota metabolism is key to developing efficient therapeutic strategies for patients suffering from complex inflammatory disorders.
The absorption-addiction model of celebrity worship: in search of a broader theoretical foundation
Authors: Aruguete Mara S. , Grieve Frederick , Zsila Ágnes , Horváth Rita , Demetrovics Zsolt , McCutcheon Lynn E. 
Published: April 2024

Abstract
Background
A large body of evidence suggests that some people have a strong, obsessive attachment to a favorite celebrity. The absorption-addiction model attempts to account for this extreme attachment, sometimes labeled “celebrity worship.” According to the model, a small portion of celebrity admirers (“celebrity worshipers”) become absorbed in the personal lives of celebrities to compensate for perceived personal or social deficiencies. The purpose of this study is to examine how the absorption-addiction model relates to broader psychological theories that include non-celebrity contexts. Specifically, we examine how the absorption-addiction model relates to three theories: empty-self theory, extremism theory, and the dualistic model of passion.

Methods
Participants (N = 399; 77.94% women, Mage = 19.91 years, SD = 3.24) completed an online questionnaire measuring attraction to favorite celebrities. Constructs representing the three broader theories were compared to a measure of attraction to one’s favorite celebrity.

Results
Sense of emptiness, obsessive passion, and extremism were positively associated with celebrity attraction. The strongest association was found with extremism, though the effect was moderate.

Conclusions
These findings suggest that extremism theory is the best fit of the three broader theories explaining celebrity worship, although its contribution to understanding celebrity worship is modest.
The effects of Mediterranean diet on cardiovascular risk factors, glycemic control and weight loss in patients with type 2 diabetes: a meta-analysis
Authors: Zheng Xing , Zhang Wenwen , Wan Xiaojuan , Lv Xiaoyan , Lin Peng , Si Shucheng , Xue Fuzhong , Wang Aijun , Cao Yingjuan 
Published: April 2024

AbstractTo explore the impact of the Mediterranean diet on cardiovascular risk factors, glycemic control and weight loss in patients with type 2 diabetes(T2D) by a meta-analysis of randomized controlled trials (RCTs). We systematically searched PubMed, Cochrance Library, EMBASE and four Chinese databases to identify RCTs that compared the Mediterranean diet with control diets in patients with T2D up to December 2021. The Risk of Bias of the included studies was assessed using the version 2 of the Cochrane risk-of-bias tools for randomized trials (ROB 2). Seven RCTs with 1371 patients met the eligibility criteria and entered into the meta-analysis. Compared to control diets, the beneficial effects of Mediterranean diet were not statistically significant in high-density lipoprotein (MD = 2.33; 95% CI: -0.27 to 4.92), low-density lipoprotein (MD = -2.34; 95% CI -5.67 to 0.99) and total cholesterol (MD = 2.60; 95% CI: -0.95 to 6.15). But Mediterranean diet led to reduce the level of diastolic blood pressure (MD = -1.20; 95% CI: -2.21 to -0.19) and systolic blood pressure (MD = -4.17; 95% CI: -7.12 to -1.22). Meanwhile, Mediterranean diet showed beneficial effects in glycemic control (HbA1[%]: MD = -0.39, 95% CI: -0.58 to -0.20; fasting plasma glucose: MD = -15.12, 95% CI: -24.69 to -5.55) and weight loss (BMI: MD = -0.71, 95% CI: -1.30 to -0.78; WC: MD = -1.69; 95% CI: -3.35 to -0.02) compared to the control diets. The meta-analysis presented evidence supporting the beneficial effects of the Mediterranean diet on blood pressure, glycemic control, and weight loss. However, the impact of the Mediterranean diet on the lipid profile was not found to be significant, warranting further verification. This Meta-analysis was registered on the INPLASY website (Registration number: INPLASY 202160096).
Effects of Chronic Static Stretching on Maximal Strength and Muscle Hypertrophy: A Systematic Review and Meta-Analysis with Meta-Regression
Authors: Warneke Konstantin , Lohmann Lars Hubertus , Behm David G. , Wirth Klaus , Keiner Michael , Schiemann Stephan , Wilke Jan 
Published: April 2024

Abstract
Background
Increases in maximal strength and muscle volume represent central aims of training interventions. Recent research suggested that the chronic application of stretch may be effective in inducing hypertrophy. The present systematic review therefore aimed to syntheisize the evidence on changes of strength and muscle volume following chronic static stretching.

Methods
Three data bases were sceened to conduct a systematic review with meta-analysis. Studies using randomized, controlled trials with longitudinal (≥ 2 weeks) design, investigating strength and muscle volume following static stretching in humans, were included. Study quality was rated by two examiners using the PEDro scale.

Results
A total of 42 studies with 1318 cumulative participants were identified. Meta-analyses using robust variance estimation showed small stretch-mediated maximal strength increases (d = 0.30 p < 0.001) with stretching duration and intervention time as significant moderators. Including all studies, stretching induced small magnitude, but significant hypertrophy effects (d = 0.20). Longer stretching durations and intervention periods as well as higher training frequencies revealed small (d = 0.26–0.28), but significant effects (p < 0.001–0.005), while lower dosage did not reach the level of significance (p = 0.13–0.39).

Conclusions
While of minor effectiveness, chronic static stretching represents a possible alternative to resistance training when aiming to improve strength and increase muscle size. As a dose-response relationship may exist, higher stretch durations and frequencies as well as long program durations should be further elaborated.