bluuebunny/crossref_metadata_2025_split huggingface dataset:
Genome-wide DNA methylation profiles and breast cancer among World Trade Center survivors
Authors: Tuminello Stephanie , Ashebir Yibeltal Arega , Schroff Chanel , Ramaswami Sitharam , Durmus Nedim , Chen Yu , Snuderl Matija , Shao Yongzhao , Reibman Joan , Arslan Alan A. 
Published: June 2024

Background:
Increased incidence of cancer has been reported among World Trade Center (WTC)-exposed persons. Aberrant DNA methylation is a hallmark of cancer development. To date, only a few small studies have investigated the relationship between WTC exposure and DNA methylation. The main objective of this study was to assess the DNA methylation profiles of WTC-exposed community members who remained cancer free and those who developed breast cancer.

Methods:
WTC-exposed women were selected from the WTC Environmental Health Center clinic, with peripheral blood collected during routine clinical monitoring visits. The reference group was selected from the NYU Women’s Health Study, a prospective cohort study with blood samples collected before 9 November 2001. The Infinium MethylationEPIC array was used for global DNA methylation profiling, with adjustments for cell type composition and other confounders. Annotated probes were used for biological pathway and network analysis.

Results:
A total of 64 WTC-exposed (32 cancer free and 32 with breast cancer) and 32 WTC-unexposed (16 cancer free and 16 with prediagnostic breast cancer) participants were included. Hypermethylated cytosine–phosphate–guanine probe sites (defined as β > 0.8) were more common among WTC-exposed versus unexposed participants (14.3% vs. 4.5%, respectively, among the top 5000 cytosine–phosphate–guanine sites). Cancer-related pathways (e.g., human papillomavirus infection, cGMP-PKG) were overrepresented in WTC-exposed groups (breast cancer patients and cancer-free subjects). Compared to the unexposed breast cancer patients, 47 epigenetically dysregulated genes were identified among WTC-exposed breast cancers. These genes formed a network, including Wnt/β-catenin signaling genes WNT4 and TCF7L2, and dysregulation of these genes contributes to cancer immune evasion.

Conclusion:
WTC exposure likely impacts DNA methylation and may predispose exposed individuals toward cancer development, possibly through an immune-mediated mechanism.
Combined Central Retinal Artery and Vein Occlusion-like Manifestations with Aplastic Anemia: Unveiling Pathophysiological Insights
Authors: de Santana Carlos Rodrigo Damasceno Feitosa , Ferreira Felipe de Queiroz Tavares 
Published: June 2024

Purpose:
To report the association of a combined central artery and vein occlusion (CCRAVO)-like pattern with aplastic anemia and discuss the pathophysiology associated with ophthalmologic examinations.

Methods:
We report a female patient with aplastic anemia who presented with retinal hemorrhage, blurred optic disc margins, retinal whitening, peripapillary subretinal fluid, and venous engorgement. The authors described the evolution of ophthalmologic lesions in correlation with improvements in systemic conditions.

Results:
We discuss and correlate the ophthalmological findings of this patient (optic disc edema, vascular engorgement, subretinal fluid, among others) with the pathophysiology of Aplastic Anemia based on current literature.

Conclusion:
These findings provide a better understanding of the pathophysiology of this rare disease. In certain cases, ophthalmologic symptoms can be the first presentation, underscoring the importance of reporting ocular findings for the recognition of this disease, which entails significant systemic involvement.
Genetic etiology study in a large cohort with congenital insensitivity to pain with anhidrosis
Authors: Li Shuang , Ren Xiuzhi , Guan Yun , Zhao Feiyue , Cao Yixuan , Geng Xingzhu , Wang Yanzhou , Wu Nan , Wu Lingqian , Zhao Xiuli 
Published: June 2024

Abstract
Pathogenic variations in the NTRK1 can cause congenital insensitivity to pain with anhidrosis (CIPA), a rare autosomal recessive inherited neuropathy. The precise diagnosis of CIPA relies on the identification of pathogenic genotypes. Therefore, it is essential to expand the NTRK1 variation spectrum and improve molecular diagnosis methods. In this study, 74 probands with typical manifestations of CIPA but unknown genotypes were recruited. A comprehensive molecular genetic analysis was performed to identify variations in the NTRK1, using techniques including Sanger and next-generation sequencing, bioinformatic analysis, quantitative polymerase chain reaction (qPCR), gap-PCR, short tandem repeat (STR) genotyping, and reverse-transcription PCR. In addition, functional assays were conducted to determine the pathogenicity of variants of uncertain significance (VUS) and further characterized changes in glycosylation and phosphorylation of 14 overexpressed mutant vectors with variants at different domains in the TrkA protein, which is encoded by NTRK1. A total of 48 variations in the NTRK1 were identified, including 22 novel ones. When combined with data from another 53 CIPA patients examined in our previous work, this study establishes the largest genotypic and phenotypic spectra of CIPA worldwide, including 127 CIPA families. Moreover, functional studies indicated that the pathogenicity of VUS mainly affected insufficient glycosylation in the extracellular domain and abnormal phosphorylation in the intracellular domain. This study not only provides important evidence for precise diagnosis of CIPA but also further enriches our understanding of the pathogenesis of this disease.
Iron Deficiency Among Hospitalized Patients With Congestive Heart Failure
Authors: Foust Rick , Clarkson Stephen , Nordberg Megan , Joly Joanna , Griffin Russell , May Jori 
Published: June 2024

ABSTRACT

Introduction:
Studies have demonstrated the efficacy of intravenous (IV) iron when administered to patients with congestive heart failure (CHF) and iron deficiency (ID). We aimed to better understand the adherence of treatment for ID among a population with CHF, with particular interest in high-risk groups not often studied due to inadequate recruitment.

Methods:
A retrospective chart review at our institution was conducted from January 1, 2012, to July 7, 2021. Analysis included hospitalized patients with CHF and ID and dividing these patients into two time periods based on changes in iron treatment patterns and treatment between sexes.

Results:
Four thousand eight hundred thirteen patients were included in this study. During the “early era,” 7.0% of patients with CHF and ID received IV iron compared with 20.9% of “late-era” patients. Female patients with ID were statistically less likely to receive IV iron when compared with male patients, both unadjusted (0.66, confidence interval [CI] 0.55–0.79, p < .0001) and adjusted (0.72, CI 0.59–0.87, p < .0001) for covariates.

Conclusion:
This study illustrates improved adherence to treatment for ID among hospitalized population with CHF and ID over time but persistent undertreatment remains. Future studies will need to identify the barriers to treating female patients with CHF and ID to reduce these disparities.
Sustainability of a Pediatric Neurointensive Care Unit Model Within a Mixed Pediatric Intensive Care Unit and Its Effect on Nursing Sentiment
Authors: Chang Nathan , Casazza May , Sperber Amelia , Ciraulo Leslie , Rodriguez Jennifer , Marquiss Katherine , D'Anjou Lisa , Teeyagura Prathyusha , Chaillou Anne-Laure , Palmquist Andrew , Rasmussen Lindsey 
Published: June 2024

ABSTRACT

BACKGROUND: Pediatric neurocritical care (PNCC) and pediatric neurointensive care units (neuro-PICU) are growing fields. Although some institutions have established independent neuro-PICUs meeting most Neurocritical Care Society (NCS) standards for neurocritical care units, many centers lack the resources to do so. We describe an alternative neuro-PICU model as a designated unit within a mixed pediatric intensive care unit (PICU) and its effects on nursing sentiment. METHODS: We established a 6-bed neuro-PICU within a 36-bed noncardiac PICU. Charge nurses were tasked with admitting PNCC patients into these beds. For nursing expertise, we used a core group of 12 PNCC specialty nurses and instituted PNCC nursing education to PICU nurses. We observed the number of PNCC patients admitted to neuro-PICU beds and surveyed charge nurses to identify barriers to assigning patients. We surveyed PICU nursing staff to explore sentiment regarding PNCC before and after establishing the neuro-PICU. Nursing criteria were compared with NCS standards. RESULTS: In the 40-month period, our PICU saw 2060 PNCC admissions. Overall, occupied neuro-PICU beds housed PNCC patients 74.1% of the time. The biggest barriers to patient placement were too many competing placement requests, not enough neuro-PICU beds when specialty census was high, and difficulty assigning one nurse to two PNCC patients. In surveys after establishing the neuro-PICU, compared to before, experienced nurses reported being more interested in obtaining Emergency Neurological Life Support certification (94.2% vs 80.6%, P = .0495), and inexperienced nurses reported being more familiar with PNCC clinical pathways (53.5% vs 31.7%, P = .0263). Most NCS criteria related to nursing organization were met. CONCLUSIONS: Focused neuro-PICUs should be developed to complement advances in the field of PNCC. Alternative neuro-PICU models are possible and can increase nursing interest in further education and awareness of clinical pathways, but barriers exist that require institutional commitment to nursing development to sustain the delivery of specialized care to this population.
Noninfectious causes of alopecia in the pediatric population
Authors: Saliba Elie , Shah Asghar , Wahood Samer , Chrabieh Remie 
Published: June 2024

Purpose of review
To highlight recent advances in the knowledge base surrounding noninfectious causes of alopecia in the pediatric population.

Recent findings
Recent developments in the literature included assessments of treatment efficacy, diagnostic utility of trichoscopy, and retrospective studies characterizing the clinical picture of pediatric cases.

Summary
These findings will equip practitioners with the recent advances in the field's understanding of noninfectious causes of alopecia in the pediatric population.
Plant-based diets, animal agriculture, and the connection with urological and planetary health
Authors: Gupta Natasha , Leapman Michael S. , Loeb Stacy 
Published: June 2024

Purpose of review
We summarize the latest evidence regarding the impact of plant-based diets on urological and planetary health to facilitate patient counseling and research regarding dietary intervention.

Recent findings
Studies have highlighted the association of plant-based diets with a lower risk of multiple urological conditions including prostate cancer, erectile dysfunction, benign prostatic hyperplasia, and nephrolithiasis, as well as benefits for planetary health.

Summary
Plant-based diets are associated with numerous benefits that co-promote urological and planetary health.
Technical and ethical challenges in polygenic embryo selection
Authors: Namba Shinichi , Akiyama Masato , Hamanoue Haruka , Kato Kazuto , Kawashima Minae , Kushima Itaru , Matsuda Koichi , Nakatochi Masahiro , Ogishima Soichi , Sonehara Kyuto , Suzuki Ken , Takata Atsushi , Tamiya Gen , Tanikawa Chizu , Yamamoto Kenichi , Yamamoto Natsuko ,   The BioBank Japan Project, Ozaki Norio , Okada Yukinori 
Published: June 2024

AbstractWhereas best practice of clinical prediction of human phenotypes by polygenic risk score (PRS) has yet to be fully implemented, commercial industries already offer pre-implantation genetic testing for PRS (PGT-P) to select embryos with ‘desirable’ potential. However, its efficacy is questionable due to the current technical challenges, which also raise ethical concerns. Ourin-silicosimulations utilizing biobank resources revealed that the embryo selected by PGT-P substantially differs depending on the choice of methods and the random fluctuation of the PRS construction. Here, we outline the technical challenges and also the ethical concerns that remain even if the technical challenges are solved, and hope to call on a society-wide discussion for this technology.
Men’s Willingness to Receive Text Messages and Talk with an HIV counselor from the National HIV Hotline in Tanzania for Support with Linkage to Care Following HIV self-testing
Authors: Mhando Frank , Olughu Kelia , Nyankomo Marwa , Ngocho James S. , Teri Ivan , Mbita Gaspar ,   BRIDGE Africa Team, Conserve Donaldson F. 
Published: June 2024

AbstractBackgroundTanzania faces a significant burden of HIV, with particular challenges in reaching men and ensuring timely linkage to care. To address these issues, HIV self-testing (HIVST) has been implemented to increase HIV testing and the National HIV Hotlines are being considered as a strategy to facilitate linkage to care. This study aimed to assess the willingness of Tanzanian men to receive support from use the National HIV Hotline via mobile phones for HIVST and linkage to care.MethodsData from 505 men from the baseline survey of a cluster-randomized controlled trial conducted in June 2019 with 18 social networks or “camps” in Dar es Salaam, Tanzania. Participants were 18-year-old or older male camp members who were HIV-negative at the time of enrolment. Logistic regression models were used to assess factors associated with men’s comfort with talking with an HIV counselor over the phone.ResultsThere were 505 heterosexual male participants enrolled in the study with an average age of 29 years. Logistic regression demonstrated that comfortability texting a friend about HIV self-testing (OR =3.37, 95% CI [1.97 – 5.76], being comfortable texting a friend about HIV (OR = 3.84, 95% CI [2.20 – 6.72], previous history of receiving HIV related text messages (aOR = 0.55, 95% CI [0.31 – 0.99] were significantly associated with men’s s comfortability talking to a HIV counselor on the National HIV Hotline following HIVST. The factors such as participants’ comfortability texting friend about HIVST (OR = 2.52, 95% CI [1.49 – 4.25]) and comfortability texting friend about HIV (OR = 2.96, 95% CI [1.83 – 4.80] were significantly associated with the probability of participant’s comfortability receiving text message from HIV counselor following HIVST.ConclusionThese findings suggest an effort to develop and implement a user-friendly digital health intervention that promote comfortability, address private concerns, and deliver tailored support and information to individuals following HIV self-testing.
The Healthy Minds, Thriving Kids Project – a mental health and wellbeing prevention program for young people, results of a survey to understand the perspective of educators on program relevance and potential impact
Authors: Anderson David , Chapman Jeffrey , Domingues Janine , Bobadilla Gabriella , Corcoran Mimi , Koplewicz Harold 
Published: June 2024

AbstractBackgroundHealthy Minds Thriving Kids (HMTK) is a free to user mental health prevention program developed by the Child Mind Institute with the aim to normalize conversations about mental health and provide educators with wellness tools.MethodsThe HMTK program was available to view by registrants between 26thJanuary 2022 and 7thSeptember 2022 in the State of California. Participants viewed an introductory video for the program and a minimum of two skills videos before participating in an online survey.ResultsOf 68,861 registrants to the website 64,376 provided survey data. Post-pandemic levels of stress and anxiety were increased and 89.5% of respondents said young people required a greater degree of support than previously. Almost all educators (90%) want additional mental health and wellbeing tools for students and following review of HMTK >80% of respondents said they would use the program in their classrooms. Most (86.6%) found the program engaging and 85.1% found the program relevant to, and representative of, their student cohorts. More than three quarters (79.6%) said their students would find the program engaging and beneficial, and 18.8% more educators believed that HMTK was indicative of commitment to educators by the State of California in supporting students’ social and emotional learning.ConclusionThis survey demonstrates that the HMTK program is a valuable and complementary resource to school curricula to improve the mental health and wellbeing of young people. It provides an easy to implement framework that school districts and administrators can allocate within their curriculum planning.
An investigation of multisensory perception of surrounding space in aided congenitally hearing impaired
Authors: Snir Adi , Cieśla Katarzyna , Vekslar Rotem , Amedi Amir 
Published: June 2024

SummaryWe tested auditory spatial motion localisation in congenitally hearing impaired adult users of bilateral cochlear implants, and other hearing assistive devices. The group showed severely impaired capabilities despite extensive device use, emphasizing the role ofnaturein sensory development. We then investigate whether the deficit is maintained for other sensory modalities, by using an in-house sensory substitution device that provides weighted vibrotactile cues on fingertips to induce 3D spatial motion perception. The performance was significantly higher, both in the combined audio-tactile task and the tactile task itself, with accuracy comparable to typically hearing subjects. With touch, we also showed considerably fewer front-back and right-left confusions. The rapid audio-tactile binding and availability of 3D space representation through touch, point to the significant role ofnurturein spatial perception development and its amodal nature. The findings show promise towards advancing multisensory solutions for spatial hearing rehabilitation.Highlights–Auditory motion localisation is severely impaired in aided congenitally hearing impaired, supporting the role ofnaturetowards spatial development;–Binding auditory and tactile information enhances auditory spatial performance, supporting the role ofnurture;–Hearing impaired individuals perform 360° motion localisation through touch with accuracy similar to typically hearing;–Surrounding spatial representation never before experienced in congenitally hearing impaired is rapidly available through an alternate modality
Germline mutations in young-onset sporadic pituitary macroadenomas: a multigene panel analysis
Authors: Gaspar Leonor M. , Gonçalves Catarina I. , Nobre Ema L. , Fonseca Fernando , Amaral Cláudia , Duarte João S. , Raimundo Luísa , Saraiva Catarina , Cortez Luísa , Marques Olinda , Lemos Manuel C. 
Published: June 2024

AbstractObjectiveMutations in several genes have been associated with familial forms of pituitary adenomas. Sporadic pituitary adenomas (i.e. with no family history or coexistent endocrine tumours) are also occasionally found to result from germline mutations in these genes, especially in young patients with larger tumours. The aim of this study was to determine the frequency of germline mutations in patients with young-onset sporadic pituitary macroadenomas.MethodsA cohort of 225 Portuguese patients with sporadic pituitary macroadenomas diagnosed before the age of 40 years was studied by whole exome sequencing (WES) followed by the analysis of a virtual panel of 29 genes that have been associated with predisposition to pituitary adenomas.ResultsPathogenic and likely pathogenic variants were identified in 16 (7.1%) of patients. The affected genes wereAIP(n=4),PMS2(n=4),MEN1(n=2),VHL(n=2),CDH23(n=1),MSH2(n=1),SDHB(n=1), andTP53(n=1). In patients diagnosed under the ages of 30 and 18 years, the frequency of mutations increased to 9.0% and 12.0%, respectively.ConclusionThis is so far the largest multigene analysis of patients with young-onset sporadic pituitary macroadenomas. We confirmed theAIPas the most frequently involved gene, but also uncovered rarer genetic causes of pituitary adenomas, including the first independent confirmation of a role of theCDH23gene. The results may contribute to a better understanding of the genetic landscape of these tumours and help to decide which genes to include in the genetic screening of patients with young-onset pituitary macroadenomas.
LncRNA PAN3-AS1 modulates cilium assemble signaling pathway through regulation of RPGR as a potential MS diagnostic biomarker: integrated systems biology investigation
Authors: Mostaghimi Yasaman , Haddadi Mohammad , Hojjati Zohreh 
Published: June 2024

AbstractIntroductionMultiple sclerosis (MS), an autoimmune condition of the central nervous system (CNS), can lead to demyelination and axonal degeneration in the brain and spinal cord, which can cause progressive neurologic disability. MS symptoms include autonomic dysfunction, such as insomnia, neuropathic and nociceptive pain, cognitive impairment, spasticity, dysesthesia, anxiety, and depression, significantly reducing patient quality of life. These symptoms appear in addition to the progressive decline in the nervous system’s motor abilities. In this investigation, we performed an integrated bioinformatics and experimental approach to find the expression level and interaction of a novel long non-coding RNA (lncRNA), PAN3-AS1, in MS samples.MethodsMicroarray analysis was performed by R Studio using GEOquery and limma packages. lncRNA-mRNA RNA interaction analysis was performed using the lncRRIsearch database. Pathway enrichment analysis was performed by KEGG and Reactome online software through the Enrichr database. Protein-protein interaction analysis was performed by STRING online software. Gene ontology (GO) analysis was performed by Enrichr database.ResultsBased on microarray analysis, lncRNA PAN3-AS1 has a significantly low expression in MS samples compared to the control (logFC: −1.2, adj. P. Val: 0.03). qRT-PCR results approved bioinformatics analyses. ROC analysis revealed that PAN3-AS1 could be considered a potential diagnostic biomarker of MS. Based on lncRNA-mRNA interaction analysis, lncRNA PAN3-AS1 regulates the expression level of RPGR. RPGR and its protein interactome regulate the cilium assembly, chaperon-mediated autophagy, and microarray biogenesis.ConclusionlncRNA PAN3-AS1, as a significant low-expressed lncRNA in MS samples, could be a potential diagnostic MS biomarker. PAN3-AS1 might regulate the expression level of cilium assembly and chaperon-mediated autophagy. Dysregulation of PAN3-AS1 might affect the expression of RPGR and its protein interactome.