bluuebunny/crossref_metadata_2025_split huggingface dataset:
Sensory-Motor-Oral Stimulation Combined with Early Sucking During the Mandibular Distraction Osteogenesis Process in Children with Robin Sequence
Authors: Gasparin Marisa , Barth Fabiola Luciane , Schweiger Cláudia , Collares Marcus Vinícius Martins , Levy Deborah Salle , Marostica Paulo José Cauduro 
Published: July 2024

Objective To describe the findings of children with Robin Sequence (RS) who received sensory-motor-oral stimulation combined with early sucking during mandibular distraction osteogenesis (MDO), compared with children who did not receive the intervention. Design A quasi-experimental study. Setting: A tertiary public hospital. Patients: Children with RS referred to MDO. A historical group from the same population but managed according to the institution's standard protocol (no sucking) served as a control group. Interventions: Sensory-motor-oral stimulation, including sucking, starting 24 h after MDO (intervention group). Main Outcome Measure: Our hypothesis is that sensory-motor-oral stimulation, including sucking during the DOM process, do not negatively affect surgical outcomes. Results Twenty-nine children were included. Eight (72.7%) of the 11 patients in the intervention group and 13 (72.2%) of the 18 controls had MDO complications, with no significant difference between the groups ( p = 1.000). The most common surgical outcome was antibiotic therapy for surgical site infection (76.2%). Six months after MDO, 22 (75.9%) children attained full oral feeding or associated with alternative feeding methods. Conclusion The intervention group did not have higher complication rates, from a surgical point of view, than control group. The protocol adopted by some centers that contraindicates sucking during MDO should be revised to consider the benefits of such stimulation. Keywords: Pierre Robin Syndrome, deglutition, therapeutics, child development.
Thrombotic Prediction Model Based on Epigenetic Regulator Mutations in Essential Thrombocythemia Patients Using Survival Analysis in Recurrent Events
Authors: Saelue Pirun , Sinthujaroen Patuma , Suwiwat Supaporn , Thongsuksai Paramee 
Published: July 2024

Introduction Essential thrombocythemia (ET) involves the proliferation of megakaryocytes and platelets and is associated with an increased risk of thrombosis. We aimed to evaluate thrombotic risks in patients with epigenetic regulator mutations and generate a model to predict thrombosis in ET. Materials and Methods This cohort study enrolled patients aged > 15 years diagnosed with ET at the Songklanakarind Hospital between January 2002 and December 2019. Twenty-five targeted gene mutations, including somatic driver mutations ( JAK2, CALR, MPL), epigenetic regulator mutations ( TET2, DNMT3A, IDH1, IDH2, TET2, ASXL1, EZH2, SF3B1, SRSF2) and other genes relevant to myeloid neoplasms, were identified using next-generation sequencing. Thrombotic events were confirmed based on clinical condition and imaging findings, and thrombotic risks were analyzed using five survival models with the recurrent event method. Results Ninety-six patients were enrolled with a median follow-up of 6.91 years. Of these, 15 patients experienced 17 arterial thrombotic events in total. Patients with JAK2 mutation and IDH1 mutation had the highest frequency of thrombotic events with somatic driver mutations (17.3%) and epigenetic regulator mutations (100%). The 10-year thrombosis-free survival rate was 81.3% (95% confidence interval: 72.0-91.8%). IDH1 mutation was a significant factor for thrombotic risk in the multivariate analysis for all models. The Prentice, William, and Peterson (PWP) gap-time model was the most appropriate prediction model. Conclusions The PWP gap-time model was a good predictive model for thrombotic risk in patients with ET. IDH1 mutation was significant risk factors for thrombosis; however, further studies with a larger sample size should confirm this and provide more insight.
Exploring the barriers and facilitators experienced by patients with heart failure when using popular exergaming platforms for self-management—a systematic review
Authors: Ravani Elham , Ali Fai , Albuainain Sara , Flamarzi Sara , Dirar Tuqa , O’Brien Michelle , Morris Linzette 
Published: July 2024

Objective To systematically explore the barriers and facilitators experienced by patients with heart failure when using the most popular commercially-accessible digital exergaming platforms for self-management. Methods A systematic literature search was conducted in: Embase, SCOPUS, PubMed, and ProQuest. Qualitative/mixed methods studies published in English between 2000 and 2024, including adults >18 years with heart failure using digital gaming platforms for exercise as self-management (i.e. Microsoft Xbox/Kinect, Sony PlayStation®, Nintendo™ Wii) were considered. Risk of bias was assessed using the Critical Appraisal Skills Program. The grounded theory method was used to extract, analyze, and synthesize the data. Results Three articles which qualitatively reported on the experiences of the patients with heart failure when using Nintendo™ Wii for self-management were included. Seventy-nine participants (male and female, age 32–81 years) were included in the studies. The three included studies were of high quality. Extracted qualitative data were grouped into subthemes, which were grouped into main themes, namely, Engagement, A pathy, Convenience, Health-related benefits and Gaming Platforms. The main themes were categorized into Barriers and Facilitators. Patients reported that gaming platforms were simple, easy to use, interesting, and motivating ( Facilitators). Boredom while playing specific games, preferring other activities and technical issues were reported as Barriers. Conclusion This review provides the first insights into the barriers and facilitators patients with heart failure experience when using popular digital exergaming platforms to participate in exercise programs in the self-management of their condition. However, few high-quality studies exist which limits the conclusions made and warrants further research in this area.
Uncovering genetic mimics in multiple sclerosis: A single-center clinical exome sequencing study
Authors: Mandler Julia M. , Härtl Johanna , Cordts Isabell , Sturm Marc , Hedderich Dennis M. , Bafligil Cemsel , Baki Enayatullah , Becker Benedikt , Machetanz Gerrit , Haack Tobias B. , Berthele Achim , Hemmer Bernhard , Deschauer Marcus 
Published: July 2024

Background Multiple sclerosis (MS) shares clinical/radiological features with several monogenic diseases that can mimic MS. Objective We aimed to determine if exome sequencing can identify monogenic diseases in patients diagnosed with MS according to the McDonald criteria thus uncovering them as being misdiagnosed. Methods We performed whole exome sequencing in a cohort of 278 patients with MS, clinically or radiologically isolated syndrome without cerebrospinal fluid-specific oligoclonal bands (CSF-OCBs) (n = 228), a positive family history of MS (n = 44), or both (n = 6), thereby focusing on individuals potentially more likely to have underlying monogenic conditions mimicking MS. We prioritized 495 genes associated with monogenic diseases sharing features with MS. Results A disease-causing variant in NOTCH3 was identified in one patient without CSF-OCBs, no spinal lesions, with non-response to immunotherapy, and a family history of dementia, thereby converting the diagnosis to cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). Moreover, 18 patients (6.5% of total) carried variants of unclear significance. Conclusion Monogenic diseases being misdiagnosed as MS seem rare in patients diagnosed with MS according to the McDonald criteria, even in CSF-OCB negative cases. The detected pathogenic NOTCH3 variant emphasizes CADASIL as a rare differential diagnosis and highlights the relevance of genetic testing in selected MS cases with atypical presentations.
Influences of 2-ethylanthraquinone on lignin degradation in alkaline cooking of Eucalyptus pellita wood
Authors: Luo Ke , Nishimoto Taiki , Matsushita Yasuyuki 
Published: July 2024

AbstractThe impact of 2-ethylanthraquinone (2-EAQ) on alkaline cooking of Eucalyptus pellita wood was examined by analyzing pulp yield, kappa number, the structure and weight-averaged molecular weight (Mw) of dissolved lignin in black liquor and residual lignin in pulp (RL). During soda cooking under 23% of active alkaline (AA) condition, adding 0.06% 2-EAQ reduced the kappa number by 12 points compared to cooking without it. The addition of 0.06% 2-EAQ to kraft cooking increased pulp yield by about 4% at about 19 of kappa number compared to the no addition. The analysis of lignin structure by using semiquantitative heteronuclear single quantum correlation nuclear magnetic resonance (HSQC NMR) showed that the addition of 2-EAQ promoted β-ether cleavage during alkaline cooking and reduced peeling reaction of polysaccharides and prevention of the elimination of γ-OH of lignin to form enol ethers and stilbenes. Overall, the addition of 2-EAQ promoted the degradation of lignin to lower molecular weight compounds, with a more pronounced effect observed in soda cooking than in kraft cooking. Under optimal conditions, the delignification efficiency and pulp yield of soda-EAQ pulping were comparable to kraft cooking.
Characteristics of the phenotypes in prevalent and incident cases of heart failure in primary care: IBERICAN study
Authors: Cinza-Sanjurjo Sergio , Prieto-Díaz Miguel Ángel , Pallarés-Carratalá Vicente , Micó-Pérez Rafael M. , Velilla-Zancada Sonsoles , Barquilla-García Alfonso , Ginel-Mendoza Leovigildo , Segura-Fragoso Antonio , Martín-Sánchez Vicente , Polo-García José 
Published: July 2024

Abstract
Background
The management in primary care (PC) of the patients with Heart Failure (HF) is different from the management hospital, in a special way compared to cardiology departments.

Objective
To define the characteristics in both phenotypes of HF in prevalent and incident cases of HF in patients recruited in a large PC sample.

Methods
We proposed a and longitudinal analyses, in patients of the IBERICAN cohort, that recruited 8,066 patients in the Spanish primary care system, with 15,488 patients-years of follow-up. Of them, 252 patients (3.1%) had diagnoses of HF. HF was classified according to the 2014 guidelines in two groups: HF with a reduced eject fraction or HFrEF (LVEF < 50%) and HF with preserved eject fraction or HFpEF (LVEF ≥ 50%). Recommended treatment was defined as the patient receiving drug treatment with Renin-Angiotensin-System (RAS) blockers with beta-blockers and, optionally, spironolactone. The incidence of new cases of HF was calculated in the 7,814 patients without HF in the inclusion visit. Finally, we analysed which variables associated the onset new cases and get the hazard ratio (HR) with the confidence interval at 95% ([95%CI]). Clinical trials register: NCT02261441 (02/05/2017).

Results
The HFpEF was the most frequent phenotype in prevalent cases (61.1%) and incident cases (73.9%). Patients with HFrEF had a higher prevalence of coronary heart disease (p = 0.008) and PAD (p = 0.028), and no statistically significant differences was observed in the therapeutic groups used between both groups. The incidence of HF was 12.8 cases/1000 inhabitants/year, 35.6% of them was diagnosed in PC. The renin-angiotensin system blockers were more used in PC (60%) and beta-blockers (100%) and spironolactone (60%) in hospital. The female sex showed a protective effect for incident cases (0.51 [0.28–0.92]); and AF (HR [95%CI]: 2.90 [1.51–5.54]), coronary heart disease (HR [95%CI]: 2.18 [1.19-4.00]) and hypertension (HR [95%CI]: 1.91 [1.00-3.64]) increased the risk of developing HF.

Conclusions
HF phenotype more frequent and incident in PC was the HFpEF, but only one third of them are diagnosed in PC level. The female sex showed a protective effect and atrial fibrillation, ischaemic heart disease and hypertension increased the risk of develop HF.
GWAS-based polygenic risk scoring for predicting cerebral artery dissection in the Chinese population
Authors: Zhang Shufan , Zhu Dongliang , Wu Zhengyu , Yang Shilin , Liu Yuanzeng , Kang Xiaocui , Chen Xingdong , Zhu Zhu , Dong Qiang , Suo Chen , Han Xiang 
Published: July 2024

Abstract
Objective
Cerebral artery dissection (CeAD) is a rare but serious disease. Genetic risk assessment for CeAD is lacking in Chinese population. We performed genome-wide association study (GWAS) and computed polygenic risk score (PRS) to explore genetic susceptibility factors and prediction model of CeAD based on patients in Huashan Hospital.

Methods
A total of 210 CeAD patients and 280 controls were enrolled from June 2017 to September 2022 in Department of Neurology, Huashan Hospital, Fudan University. We performed GWAS to identify genetic variants associated with CeAD in 140 CeAD patients and 210 control individuals according to a case and control 1:1.5 design rule in the training dataset, while the other 70 patients with CeAD and 70 controls were used as validation. Then Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway and Gene Ontology (GO) enrichment analyses were utilized to identify the significant pathways. We constructed a PRS by capturing all independent GWAS SNPs in the analysis and explored the predictivity of PRS, age, and sex for CeAD.

Results
Through GWAS analysis of the 140 cases and 210 controls in the training dataset, we identified 13 leading SNPs associated with CeAD at a genome-wide significance level of P < 5 × 10− 8. Among them, 10 SNPs were annotated in or near (in the upstream and downstream regions of ± 500Kb) 10 functional genes. rs34508376 (OR2L13) played a suggestive role in CeAD pathophysiology which was in line with previous observations in aortic aneurysms. The other nine genes were first-time associations in CeAD cases. GO enrichment analyses showed that these 10 genes have known roles in 20 important GO terms clustered into two groups: (1) cellular biological processes (BP); (2) molecular function (MF). We used genome-wide association data to compute PRS including 32 independent SNPs and constructed predictive model for CeAD by using age, sex and PRS as predictors both in training and validation test. The area under curve (AUC) of PRS predictive model for CeAD reached 99% and 95% in the training test and validation test respectively, which were significantly larger than the age and sex models of 83% and 86%.

Conclusions
Our study showed that ten risk loci were associated with CeAD susceptibility, and annotated functional genes had roles in 20 important GO terms clustered into biological process and molecular function. The PRS derived from risk variants was associated with CeAD incidence after adjusting for age and sex both in training test and validation.
The correlations on psychopathology in children self-rating, psychopathology in children as related by their parents and psychopathology in parents self-rating in a Kenyan school setting: towards an inclusive family-centered approach
Authors: Ndetei David M. , Mutiso Victoria , Nyamai Pascalyne , Musyimi Christine 
Published: July 2024

AbstractSeveral studies have reported on the association between parental and childhood psychopathologies. Despite this, little is known about the psychopathologies between parents and children in a non-clinical population. We present such a study, the first in a Kenyan setting in an attempt to fill this gap. The objective of this study was to determine the association between self-rating psychopathology in children, parent-rating psychopathology in their children and self-rating psychopathology in parents in a non-clinical population of children attending schools in Kenya. We identified 113 participants, comprising children and their parents in 10 randomly sampled primary schools in South East Kenya. The children completed the Youth Self-Report (YSR) scale and parents completed the Child Behavior Check List (CBCL) on their children and the Adult Self-Reports (ASR) on themselves. These instruments are part of the Achenbach System of Empirically Based Assessment (ASEBA), developed in the USA for a comprehensive approach to assessing adaptation and maladaptive behavior in children and adolescents. There was back and forth translation of the instruments from English to Swahili and the local dialect, Kamba. Every revision of the English translation was sent to the instrument author who sent back comments until the revised version was in sync with the version developed by the author. We used the ASEBA in-built algorithm for scoring to determine cut-off points for problematic and non-problematic behavior. Correlations, linear regression and independent sample t-test were used to explore these associations. The mean age of the children was 12.7. While there was no significant association between child problems as measured by YSR (self-reported) and parent problems as measured by ASR and CBCL in the overall correlations, there was a significant association when examining specific groups (clinical range vs. non-clinical). Moreover, significant association existed between total problems on YSR and ASR internalizing problems (t=-2.3,p = 0.023), with clinical range having a higher mean than the normal range. In addition, a significant relationship (p < 0.05) was found between psychopathology in children as reported by both parents (CBCL) and psychopathology in parents as self-reported (ASR).Mothers were more likely to report lower syndrome scores of their children as compared to fathers. Our findings indicate discrepancies between children self-rating and parent ratings, suggesting that one cannot manage psychopathology in children without reference to psychopathology in their parents. We suggest broad-based psycho-education to include children and parents to enhance shared awareness of psychopathology and uptake of treatment.
Social, economic, and physical side effects impact PrEP uptake and persistence among transgender women in Peru
Authors: Naz-McLean Sarah , Clark Jesse , Huerta Leyla , Mayer Kenneth H. , Lama Javier R. , Reisner Sari , Perez-Brumer Amaya 
Published: July 2024

Abstract
Introduction
Oral pre-exposure prophylaxis (PrEP) for HIV-1 infection is over 99% effective in protecting against HIV acquisition when used consistently and appropriately. However, PrEP uptake and persistent use remains suboptimal, with a substantial gap in utilization among key populations who could most benefit from PrEP. In Latin America specifically, there is poor understanding of barriers to PrEP uptake and persistence among transgender (trans) women.

Methods
In April-May 2018, we conducted qualitative interviews lasting 25–45 min as part of an end-of-project evaluation of TransPrEP, a pilot RCT that examined the impact of a social network-based peer support intervention on PrEP adherence among trans women in Lima, Peru. Participants in the qualitative evaluation, all adult trans women, included individuals who either (1) screened eligible to participate in the TransPrEP pilot, but opted not to enroll (n = 8), (2) enrolled, but later withdrew (n = 6), (3) were still actively enrolled at the time of interview and/or successfully completed the study (n = 16), or (4) were study staff (n = 4). Interviews were audio recorded and transcribed verbatim. Codebook development followed an immersion/crystallization approach, and coding was completed using Dedoose.

Results
Evaluation participants had a mean age of 28.2 years (range 19–47). When describing experiences taking PrEP, participant narratives highlighted side effects that spanned three domains: physical side effects, such as prolonged symptoms of gastrointestinal distress or somnolence; economic challenges, including lost income due to inability to work; and social concerns, including interpersonal conflicts due to HIV-related stigma. Participants described PrEP use within a broader context of social and economic marginalization, with a focus on daily survival, and how PrEP side effects negatively contributed to these stressors. Persistence was, in some cases, supported through the intervention’s educational workshops.

Conclusion
This research highlights the ways that physical, economic, and social side effects of PrEP can impact acceptability and persistence among trans women in Peru, amplifying and layering onto existing stressors including economic precarity. Understanding the unique experiences of trans women taking PrEP is crucial to informing tailored interventions to improve uptake and persistence.
The elements of end-of-life care provision in paediatric intensive care units: a systematic integrative review
Authors: Adistie Fanny , Neilson Susan , Shaw Karen L. , Bay Betul , Efstathiou Nikolaos 
Published: July 2024

Abstract
Background
Deaths in paediatric intensive care units (PICUs) are not uncommon. End-of-life care in PICUs is generally considered more challenging than other settings since it is framed within a context where care is focused on curative or life-sustaining treatments for children who are seriously ill. This review aimed to identify and synthesise literature related to the essential elements in the provision of end-of-life care in the PICU from the perspectives of both healthcare professionals (HCPs) and families.

Methods
A systematic integrative review was conducted by searching EMBASE, CINAHL, MEDLINE, Nursing and Allied Health Database, PsycINFO, Scopus, Web of Science, and Google Scholar databases. Grey literature was searched via Electronic Theses Online Service (EthOS), OpenGrey, Grey literature report. Additionally, hand searches were performed by checking the reference lists of all included papers. Inclusion and exclusion criteria were used to screen retrieved papers by two reviewers independently. The findings were analysed using a constant comparative method.

Results
Twenty-one studies met the inclusion criteria. Three elements in end-of-life care provision for children in the PICUs were identified: 1) Assessment of entering the end-of-life stage; 2) Discussion with parents and decision making; 3) End of life care processes, including care provided during the dying phase, care provided at the time of death, and care provided after death.

Conclusion
The focus of end-of-life care in PICUs varies depending on HCPs’ and families’ preferences, at different stages such as during the dying phase, at the time of death, and after the child died. Tailoring end-of-life care to families’ beliefs and rituals was acknowledged as important by PICU HCPs. This review also emphasises the importance of HCPs collaborating to provide the optimum end-of-life care in the PICU and involving a palliative care team in end-of-life care.