bluuebunny/crossref_metadata_2025_split huggingface dataset:
Developmental milestones and daily living skills in individuals with Angelman syndrome
Authors: Sadhwani Anjali , Powers Sonya , Wheeler Anne , Miller Hillary , Potter Sarah Nelson , Peters Sarika U. , Bacino Carlos A. , Skinner Steven A. , Wink Logan K. , Erickson Craig A. , Bird Lynne M. , Tan Wen-Hann 
Published: June 2024

Abstract
Background
Angelman syndrome (AS) is a neurodevelopmental disorder associated with severe global developmental delay. However, the ages at which different developmental skills are achieved in these individuals remain unclear. We seek to determine the probability and the age of acquisition of specific developmental milestones and daily living skills in individuals with AS across the different molecular subtypes, viz. class I deletion, class II deletion, uniparental disomy, imprinting defect, and UBE3A variants.

Methods
Caregivers participating in a longitudinal multicenter Angelman Syndrome Natural History Study completed a questionnaire regarding the age at which their children achieved specific developmental milestones and daily living skills. The Cox Proportional Hazard model was applied to analyze differences in the probability of achievement of skills at various ages among five molecular subtypes of AS.

Results
Almost all individuals, regardless of molecular subtype, were able to walk with support by five years of age. By age 15, those with a deletion had at least a 50% probability of acquiring 17 out of 30 skills compared to 25 out of 30 skills among those without a deletion. Overall, fine and gross motor skills such as holding and reaching for small objects, sitting, and walking with support were achieved within a fairly narrow range of ages, while toileting, feeding, and hygiene skills tend to have greater variability in the ages at which these skills were achieved. Those without a deletion had a higher probability (25–92%) of achieving daily living skills such as independently toileting and dressing compared to those with a deletion (0–13%). Across all molecular subtypes, there was a low probability of achieving independence in bathing and brushing teeth.

Conclusion
Individuals with AS without a deletion are more likely to achieve developmental milestones and daily living skills at an earlier age than those with a deletion. Many individuals with AS are unable to achieve daily living skills necessary for independent self-care.
CPMI: comprehensive neighborhood-based perturbed mutual information for identifying critical states of complex biological processes
Authors: Ren Jing , Li Peiluan , Yan Jinling 
Published: June 2024

Abstract
Background
There exists a critical transition or tipping point during the complex biological process. Such critical transition is usually accompanied by the catastrophic consequences. Therefore, hunting for the tipping point or critical state is of significant importance to prevent or delay the occurrence of catastrophic consequences. However, predicting critical state based on the high-dimensional small sample data is a difficult problem, especially for single-cell expression data.

Results
In this study, we propose the comprehensive neighbourhood-based perturbed mutual information (CPMI) method to detect the critical states of complex biological processes. The CPMI method takes into account the relationship between genes and neighbours, so as to reduce the noise and enhance the robustness. This method is applied to a simulated dataset and six real datasets, including an influenza dataset, two single-cell expression datasets and three bulk datasets. The method can not only successfully detect the tipping points, but also identify their dynamic network biomarkers (DNBs). In addition, the discovery of transcription factors (TFs) which can regulate DNB genes and nondifferential ‘dark genes’ validates the effectiveness of our method. The numerical simulation verifies that the CPMI method is robust under different noise strengths and is superior to the existing methods on identifying the critical states.

Conclusions
In conclusion, we propose a robust computational method, i.e., CPMI, which is applicable in both the bulk and single cell datasets. The CPMI method holds great potential in providing the early warning signals for complex biological processes and enabling early disease diagnosis.
Integration of transcriptomics, metabolomics, and hormone analysis revealed the formation of lesion spots inhibited by GA and CTK was related to cell death and disease resistance in bread wheat (Triticum aestivum L.)
Authors: Li Cong , Yan Lei , Liu Qian , Tian Rong , Wang Surong , Umer Muhammad Faisal , Jalil Muhammad Junaid , Lohani Md Nahibuzzaman , Liu Yanlin , Tang Huaping , Xu Qiang , Jiang Qiantao , Chen Guoyue , Qi Pengfei , Jiang Yunfeng , Gou Lulu , Yao Qifu , Zheng Youliang , Wei Yuming , Ma Jian 
Published: June 2024

Abstract
Background
Wheat is one of the important grain crops in the world. The formation of lesion spots related to cell death is involved in disease resistance, whereas the regulatory pathway of lesion spot production and resistance mechanism to pathogens in wheat is largely unknown.

Results
In this study, a pair of NILs (NIL-Lm5W and NIL-Lm5M) was constructed from the BC1F4 population by the wheat lesion mimic mutant MC21 and its wild genotype Chuannong 16. The formation of lesion spots in NIL-Lm5M significantly increased its resistance to stripe rust, and NIL-Lm5M showed superiour agronomic traits than NIL-Lm5W under stripe rust infection.Whereafter, the NILs were subjected to transcriptomic (stage N: no spots; stage S, only a few spots; and stage M, numerous spots), metabolomic (stage N and S), and hormone analysis (stage S), with samples taken from normal plants in the field. Transcriptomic analysis showed that the differentially expressed genes were enriched in plant-pathogen interaction, and defense-related genes were significantly upregulated following the formation of lesion spots. Metabolomic analysis showed that the differentially accumulated metabolites were enriched in energy metabolism, including amino acid metabolism, carbohydrate metabolism, and lipid metabolism. Correlation network diagrams of transcriptomic and metabolomic showed that they were both enriched in energy metabolism. Additionally, the contents of gibberellin A7, cis-Zeatin, and abscisic acid were decreased in leaves upon lesion spot formation, whereas the lesion spots in NIL-Lm5M leaves were restrained by spaying GA and cytokinin (CTK, trans-zeatin) in the field.

Conclusion
The formation of lesion spots can result in cell death and enhance strip rust resistance by protein degradation pathway and defense-related genes overexpression in wheat. Besides, the formation of lesion spots was significantly affected by GA and CTK. Altogether, these results may contribute to the understanding of lesion spot formation in wheat and laid a foundation for regulating the resistance mechanism to stripe rust.
Deciphering genotype-by-environment interaction of grass pea genotypes under rain-fed conditions and emphasizing the role of monthly rainfall
Authors: Maleki Hamid Hatami , Vaezi Behrouz , Jozeyan Askar , Mirzaei Amir , Darvishzadeh Reza , Dashti Shahryar , Abdi Hossein , Zeinalzadeh-Tabrizi Hossein 
Published: June 2024

AbstractRainfed regions have inconsistent spatial and temporal rainfall. So, these regions could face water deficiency during critical stages of crop growth. In this regard, multi-environment trials could play a key role in introducing stable genotypes with good performance across several rainfed regions. Grass pea, as a potential forage crop, is a resilient plant that could grow in unsuitable circumstances. In this study, agro-morphological attributes of 16 grass pea genotypes were examined in four semi-warm rain-fed regions during the years 2018–2021. The MLM analysis of variance showed a significant genotype-by-environment interaction (GEI) for dry yield, seed yield, days to maturity, days to flowering, and plant height of grass pea. The PLS (partial least squares) regression revealed that rainfall in the grass pea establishment stage (October and November) is meaningful. For grass pea cultivation, monthly rainfall during plant growth is important, especially in May, with an aim for seed yield. Regarding dry yield, G5, G10, G11, G12, G13, and G15 were selected as good performers and stable genotypes using DY × WAASB biplots, while SY × WAASB biplot manifested G2, G3, G12, and G13 as superior genotypes with stable seed yield. Considering equal weights for yield as well as the WAASB stability index (50/50), G13 was selected as the best one. Among test environments, E2 and E11 played a prominent role in distinguishing the above genotypes from other ones. In this study, MTSI (multi-trait stability index) analysis was applied to select a stable genotype, considering all measured agro-morphological traits simultaneously. Henceforth, the G5 and G15 grass pea genotypes were discerningly chosen due to their commendable performance in the WAASBY plot. In this context, G13 did not emerge as the winner based on MTSI; however, it exhibited an MTSI value in close proximity to the outer boundary of the circle. Consequently, upon comprehensive consideration of all traits, it is deduced that G5, G13, and G15 can be appraised as promising superior genotypes with stability across diverse environmental conditions.
Interventions that have potential to help older adults living with social frailty: a systematic scoping review
Authors: Kastner Monika , Herrington Isabella , Makarski Julie , Amog Krystle , Bain Tejia , Evangelista Vianca , Hayden Leigh , Gruber Alexa , Sutherland Justin , Sirkin Amy , Perrier Laure , Graham Ian D. , Greiver Michelle , Honsberger Joan , Hynes Mary , Macfarlane Charlie , Prasaud Leela , Sklar Barbara , Twohig Margo , Liu Barbara , Munce Sarah , Marr Sharon , O’Neill Braden , Papaioannou Alexandra , Seaton Bianca , Straus Sharon E. , Dainty Katie , Holroyd-Leduc Jayna 
Published: June 2024

Abstract
Background
The impact of social frailty on older adults is profound including mortality risk, functional decline, falls, and disability. However, effective strategies that respond to the needs of socially frail older adults are lacking and few studies have unpacked how social determinants operate or how interventions can be adapted during periods requiring social distancing and isolation such as the COVID-19 pandemic. To address these gaps, we conducted a scoping review using JBI methodology to identify interventions that have the best potential to help socially frail older adults (age ≥65 years).

Methods
We searched MEDLINE, CINAHL (EPSCO), EMBASE and COVID-19 databases and the grey literature. Eligibility criteria were developed using the PICOS framework. Our results were summarized descriptively according to study, patient, intervention and outcome characteristics. Data synthesis involved charting and categorizing identified interventions using a social frailty framework.

Results
Of 263 included studies, we identified 495 interventions involving ~124,498 older adults who were mostly female. The largest proportion of older adults (40.5%) had a mean age range of 70-79 years. The 495 interventions were spread across four social frailty domains: social resource (40%), self-management (32%), social behavioural activity (28%), and general resource (0.4%). Of these, 189 interventions were effective for improving loneliness, social and health and wellbeing outcomes across psychological self-management, self-management education, leisure activity, physical activity, Information Communication Technology and socially assistive robot interventions. Sixty-three interventions were identified as feasible to be adapted during infectious disease outbreaks (e.g., COVID-19, flu) to help socially frail older adults.

Conclusions
Our scoping review identified promising interventions with the best potential to help older adults living with social frailty.
The association between XPD rs13181 and rs1799793 polymorphism and oral cancer risk: evidence from a meta-analysis
Authors: Zeng Wenli , Xu Wanting , Long Wu 
Published: June 2024

Abstract
Objective
Single nucleotide polymorphisms (SNPs) are common in genes and can lead to dysregulation of gene expression in tissues, which can affect carcinogenesis. Many studies reporting the association between xeroderma pigmentosum group D (XPD) polymorphisms of rs13181 and rs1799793 with oral cancer risk, but with conflicting and inconclusive results.

Methods
We performed a comprehensive and systematic search through the PubMed, Elsevier, Web of science, and Embase databases, twelve studies were included in the meta-analysis to determine whether XPD rs13181 and rs1799793 polymorphism contributed to the risk of oral cancer.

Results
The pooled date indicated a significant association between the rs13181 polymorphism and oral cancer risk for the allele comparison model (odds ratio, OR = 1.60, 95% confidence intervals, CI = 1.09–2.35, P = 0.02), the dominant model (OR = 1.74, 95% CI = 1.08–2.82, P = 0.02), and the heterozygote model (OR = 1.59, 95% CI = 1.02–2.49, P = 0.04). For the XPD rs1799793 polymorphism, it is not associated with the incidence of oral cancer under any model. Subgroup analyses based on ethnicity indicated that the rs13181 polymorphism increased the risk of oral cancer among Asians according to the allele comparison model (OR = 1.97, 95% CI = 1.10–3.51, P = 0.02), the dominant model (OR = 2.35, 95% CI = 1.25–4.44, P = 0.008), the heterozygote model (OR = 2.05, 95% CI = 1.15–3.66, P = 0.01), and the homozygous model (OR = 2.47, 95% CI = 1.06–5.76, P = 0.04).

Conclusion
Our meta-analysis suggests a positive correlation between XPD rs13181polymorphism and the development of oral cancer among Asians, but a negative correlation among Caucasians populations.
Risk of carpal tunnel syndrome among patients with osteoarthritis: a US population-based study
Authors: Chen Shuang , Ho Tina , Asubonteng Julius , Sobel Rachel E. , Eng Simon , DiMartino Stephen J. , Manthripragada Angelika 
Published: June 2024

Abstract
Background
Carpal tunnel syndrome (CTS), an entrapment neuropathy caused by pressure of the median nerve, is a progressive condition that can lead to a decreased quality of life. Studies suggest an association between CTS and arthritis; however, previous studies examining osteoarthritis (OA) and CTS are limited in number, scope and study design. This study estimated the incidence and risk of CTS among patients with OA, both overall and by specific joints, in a large population-based cohort in the United States.

Methods
Patients from the Optum claims database aged ≥ 45 years and diagnosed with OA between January 1, 2018, and December 31, 2022, were eligible for the OA cohort. The non-OA cohort included those without a diagnosis of OA at the index date and no history of OA for 12 months pre-index. Baseline characteristics were balanced using propensity score matching. The risk of CTS in the OA and non-OA cohort were evaluated using incidence rates and adjusted hazard ratios that were estimated using Cox regression.

Results
After applying the inclusion/exclusion criteria, 3,610,240 of the 6,023,384 adults with a diagnosis of OA remained in the OA cohort. After propensity-score matching, each cohort included 1,033,439 individuals. The incidence rates for CTS per 1000 person-years were 7.35 (95% confidence interval [CI] 7.21–7.49) in the OA cohort and 1.44 (95% CI 1.38–1.50) in the non-OA cohort. The risk of developing CTS in patients with OA was ~ 4 times that of patients without (hazard ratio = 3.80; 95% CI 3.54–4.07). This increased risk was found across all OA joint types, with OA of the hand/wrist having the highest risk for CTS. Additionally, multiple OA joints presented a higher risk compared with a single affected joint.

Conclusions
OA increases the risk of CTS, but this is not limited to patients with hand/wrist OA, suggesting a systemic impact of OA on CTS. While the risk appears highest for patients with hand/wrist OA, patients with more distant affected joints like knee or hip also have an increased risk of CTS.
Evolution in the management of thyroid surgery over a period of 15 years in a Belgian center
Authors: Saïe Clotilde , Marchand Victor , Zhang-Yin Jules , Ers Vincent , Mauel Etienne 
Published: June 2024

Abstract
Background
Guidelines for thyroid surgery have evolved to reflect advances in medical knowledge and decrease the overdiagnosis of low-risk thyroid cancer. Our goal was to analyze the change made in operative thyroid management and the impact on thyroid cancer diagnosis.

Background
Guidelines for thyroid surgery have evolved to reflect advances in medical knowledge and decrease overdiagnosis of low risk thyroid cancer. Our goal was to study the evolution, over a long period, of pre- and postoperative management and the influence on histological cancer diagnosis and, more particularly, microcancer.

Methods
In this retrospective cohort study, we included 891 consecutive patients who underwent thyroid surgery between 2007 and 2020.

Results
Respectively 305, 290 and 266 patients underwent surgery over the 3 periods of 2007–2010, 2011–2015 and 2016–2020. In all three periods, women represented approximately 70% of the population, and the mean age was 54 years old (range: 67). Most surgeries (90%) involved total thyroidectomies. Over the study period, the proportion of preoperative fine needle aspiration (FNA) increased from 13 to 55%, p < 0,01. Cancer was found in a total of 116 patients: 35 (11%) patients between 2007 and 2010, 50 (17%) between 2011 and 2015 and 32 (12%) between 2016 and 2020 (p = 0.08). For all 3 periods, papillary thyroid cancer (PTC) was the most prevalent, at approximately 80%. The proportion of thyroid cancer > T1a increased significantly from 37% (2011–2015 period) to 81% (2016–2020 period), p = 0.001. Patients treated with radioiodine remained relatively stable (approximately 60%) but were more frequently treated with a low dose of radioiodine (p < 0.01) and recombinant human TSH (p < 0.01). Operative thyroid weight decreased over time in all but the low-risk T1a PTC cases.

Conclusions
Over a period of 15 years and according to the evolution of recommendations, the care of patients who underwent thyroid surgery changed with the increased use of preoperative FNA. This change came with a decrease in low-risk T1a PTC.
Comparative evaluation of marginal adaptation and fatigue resistance of endodontically treated premolars restored with direct and indirect coronal restorations: an in vitro study
Authors: Rohym Shaimaa Mohammed , Badra Heba , Nassar Hanaa 
Published: June 2024

Abstract
Background
An optimum restoration for reconstructing endodontically treated teeth should provide excellent marginal adaptation, high fracture resistance as well as maximum tooth structure conservation. The purpose of this study was to evaluate the marginal adaptation and fatigue resistance of different coronal restorations in endodontically treated premolars.

Methods
Thirty sound maxillary first premolars were endodontically treated and received MOD cavities. Teeth were randomly allocated into three groups (n = 10) according to the type of coronal restoration: Group R: polyethylene fibers (ribbond), fibers-reinforced composite (everX posterior) and final layer of nano-hybrid composite. Group O: indirect lithium disilicate overlay and Group C: fiber-post, resin composite restoration, and lithium disilicate crown. Marginal gap assessment was performed before and after thermocycling (5000 cycles) using stereomicroscope. Samples were subjected to stepwise-stress loading starting at 200 N, and increased by 100 N in each step until failure occurred. Statistical analysis was done by One-way ANOVA followed Tukey`s Post Hoc test for multiple comparison. Paired t test was used to compare the marginal adaptation before and after thermocycling. Survival probability was evaluated by Life table survival analysis. Failure mode analysis was performed with Chi-square test.

Results
Marginal gap was significantly the lowest in group R (37.49 ± 5.05) and (42.68 ± 2.38), while being the highest in group C (59.78 ± 5.67) and (71.52 ± 5.18) in before and after thermocycling respectively (P < 0.0001). Fatigue resistance was the highest for group O (1310.8 ± 196.7), and the lowest for group R (905.4 ± 170.51) with a significant difference between groups (P < 0.0001). Crown group had the highest percentage (80%) of catastrophic failure, while, overlay group exhibited the lowest (20%).

Conclusions
Direct restoration without cuspal coverage using ribbon fibers with short FRC provided better marginal adaptation than indirect overlays and crowns, but fatigue resistance wasn’t significantly improved. Adhesive ceramic overlays showed the best fatigue performance and the least catastrophic failure rate compared to both direct fiber-reinforced composite and indirect ceramic full coverage restorations.

Clinical significance
Indirect adhesive overlays are a suitable, more conservative restorative option for endodontically treated teeth than full coverage restorations, especially when tooth structure is severely compromised.
Predictability of expansion movements performed by clear aligners in mixed dentition in both arches: a retrospective study on digital casts
Authors: Loberto Saveria , Pavoni Chiara , Fanelli Silvia , Lugli Letizia , Cozza Paola , Lione Roberta 
Published: June 2024

Abstract
Background
to evaluate the predictability of expansion achieved in patients in early mixed dentition treated with Clear Aligners (CA), analyzing the efficiency of the expansion at the end of the first set of aligners and at the end of the therapy in the upper and lower arch.

Methods
36 patients (20 F, 16 M; mean age 8.3 ± 1.5 years) were selected retrospectively from the Department of Orthodontics of the Hospital of Rome “Tor Vergata”. All subjects were treated with CA with no other auxiliaries than attachments. For each patient a standardized sequential expansion protocol was planned for both arches. Digital dental casts were created at three observation periods from an intraoral scanner: prior to treatment (T0), at the end of the first set of aligners (T1), at the end of treatment (T2). The 3D models in planned position determined by the first Clincheck (CC) were obtained for comparison with T1 and T2. Six linear transversal measurements were used to evaluate the dimensional changes and the predictability of expansion movements, comparing T1-CC and T2-CC.

Results
a statistically significant increase within the pre-treatment and the final outcomes for all the variables examined was found. In the upper arch, the greatest level of predictability was detected at the level of the first (46.44%) and second deciduous molar width (44.95%) at T1. The analysis of T2-CC changes showed a significant increase in the percentage of predictability of expansion at the level of the first permanent molars, at mesial (54.86%) and distal (58.92%) width. In the lower arch, a higher percentage of predictability than the upper arch was reported at T1-CC and T2-CC, with the greatest values at the level of second (T1-CC: 48.70%; T2-CC: 75.32%) and first deciduous molar width (T1-CC: 45.71%; T2-CC: 72.75%).

Conclusions
CA can induce significant transversal increments. The predictability of expansion is variable, but it did not exceed the 50% during the first set of aligners. It was necessary to apply refinement set to achieve a good predictability for expansion of about 70%. The expansion in the lower arch was observed to be more predictable than in the upper arch.