bluuebunny/crossref_metadata_2025_split huggingface dataset:
Oncogenic roles of the lncRNA LINC00460 in human cancers
Authors: Su Min , Tang Jinming , Yang Desong , Wu Zhining , Liao Qianjin , Wang Hui , Xiao Yuhang , Wang Wenxiang 
Published: July 2022

AbstractLong noncoding RNAs (lncRNAs) represent an important group of endogenous RNAs with limit protein-encoding capability, with a length of more than 200 nucleotides. Emerging evidence have demonstrated that lncRNAs are greatly involved in multiple cancers by playing critical roles in tumor initiation and progression. Long intergenic non-protein coding RNA 460 (LINC00460), a novel cancer-related lncRNA, exhibits abnormal expression and oncogenic function in multiple cancers, and positively correlates with poor clinical characteristics of cancer patients. LINC00460 has also been shown to be a promising biomarker for diagnosis as well as prognostic evaluation in cancer patients. In this review, we briefly summarized recent knowledge on the expression, functional roles, molecular mechanisms, and diagnostic and prognostic values of LINC00460 in human malignancies.
Experiences of living with type 2 diabetes in Pakistan: the role of culture and family in physical activity
Authors: Tariq Omama , Rosten Claire , Huber Jörg 
Published: July 2022

AbstractBackgroundDiabetes-related guidelines recommend lifestyle changes for people living with type 2 diabetes (PLwD). In South Asian (SA) families, cultural and contextual expectations often influence people’s decisions. However, broad explanations provided in the existing literature and theories concerning family involvement can increase the chance of health professionals overlooking the complexities of family roles within SA communities. Previous literature has identified the need to examine the perspectives of PLwD and their family members in Pakistan to shed light on factors perceived to support and hinder recommended physical activity (PA) to manage type 2 diabetes. This study explored (1) the enablers of and barriers to PA in the context of PLwD in Pakistan and (2) family involvement regarding PLwD’s engagement with PA.MethodsSemi-structured interviews were conducted with 30 PLwD and 17 family members of PLwD who were recruited in metropolitan Lahore (Pakistan) and primarily used state health services available to relatively disadvantaged populations. Interviews were transcribed and analysed using thematic analysis.ResultsThree themes were identified: (1) Going for a walk as a feasible PA; (2) the role of family members in influencing PA; and (3) gender differences and cultural acceptability of an activity. PA enablers for PLwD consist of gender-specific opportunities for activity facilitated by peers and family members. Culturally acceptable opportunities for PA in Pakistan for specific genders and age groups within the socio-cultural context constituted an essential factor. In this study, all women with diabetes described walking as the only acceptable form of PA, whereas some men mentioned other activities such as running, playing cricket, and cycling.ConclusionsMedical guidelines must consider patients’ daily routines, account for cultural and familial expectations of different genders and age groups, and address social and physical barriers encountered by these different groups to encourage PA among PLwD in SA cultures.
Neuropsychology and MRI correlates of neurodegeneration in SPG11 hereditary spastic paraplegia
Authors: Utz Kathrin S. , Kohl Zacharias , Marterstock Dominique Cornelius , Doerfler Arnd , Winkler Jürgen , Schmidt Manuel , Regensburger Martin 
Published: July 2022

Abstract
Background
SPG11-linked hereditary spastic paraplegia is characterized by multisystem neurodegeneration leading to a complex clinical and yet incurable phenotype of progressive spasticity and weakness. Severe cognitive symptoms are present in the majority of SPG11 patients, but a systematic and multidimensional analysis of the neuropsychological phenotype in a larger cohort is lacking. While thinning of the corpus callosum is a well-known structural hallmark observed in SPG11 patients, the neuroanatomical pattern of cortical degeneration is less understood. We here aimed to integrate neuropsychological and brain morphometric measures in SPG11.

Methods
We examined the neuropsychological profile in 16 SPG11 patients using a defined neuropsychological testing battery. Long-term follow up testing was performed in 7 patients. Cortical and subcortical degeneration was analyzed using an approved, artificial intelligence based magnetic resonance imaging brain morphometry, comparing patients to established reference values and to matched controls.

Results
In SPG11 patients, verbal fluency and memory as well as frontal-executive functions were severely impaired. Later disease stages were associated with a global pattern of impairments. Interestingly, reaction times correlated significantly with disease progression. Brain morphometry showed a significant reduction of cortical and subcortical parenchymal volume following a rostro-caudal gradient in SPG11. Whereas performance in memory tasks correlated with white matter damage, verbal fluency measures showed strong associations with frontal and parietal cortical volumes.

Conclusions
The present data will help define neuropsychological and imaging read out parameters in early as well as in advanced clinical stages for future interventional trials in SPG11.
Natural history of Type 1 spinal muscular atrophy: a retrospective, global, multicenter study
Authors: Cances Claude , Vlodavets Dmitry , Comi Giacomo Pietro , Masson Riccardo , Mazurkiewicz-Bełdzińska Maria , Saito Kayoko , Zanoteli Edmar , Dodman Angela , El-Khairi Muna , Gorni Ksenija , Gravestock Isaac , Hoffart Janine , Scalco Renata S. , Darras Basil T. ,   the ANCHOVY Working Group, Alberti Katia , Baranello Giovanni , Barisic Nina , Brolatti Noemi , Bruno Claudio , Cances Claude , Comi Giacomo Pietro , Darras Basil T. , Deconinck Nicolas , Vos Elke , De Waele Liesbeth , Dodman Angela , Dosi Claudia , El-Khairi Muna , Engelbrekt Amanda , Goemans Nathalie , Gorni Ksenija , Govoni Alessandra , Gravestock Isaac , Haginoya Kazuhiro , Hoffart Janine , Kotulska-Jozwiak Katarzyna , Goff Laure Le , Levine Alexis , Manel Saidi , Masson Riccardo , Mastella Chiara , Mauri Eleonora , Mazurkiewicz-Bełdzińska Maria , Meneri Megi , Moroni Isabella , Pierzchlewicz Katarzyna , Portefaix Aurelie , Prufer Alexandra , Rauso Myriam , Saito Kayoko , Scalco Renata S. , Schembri Veronica , Sicolo Mariangela , Tahon Valentine , Tomas Josipa , Vincent-Genod Dominique , Vlodavets Dmitry , Vuillerot Carole , Yotsumata Kazuyuki , Zanoteli Edmar 
Published: July 2022

Abstract
Background
ANCHOVY was a global, multicenter, chart-review study that aimed to describe the natural history of Type 1 spinal muscular atrophy (SMA) from a broad geographical area and provide further contextualization of results from the FIREFISH (NCT02913482) interventional study of risdiplam treatment in Type 1 SMA.

Methods
Data were extracted from medical records of patients with first symptoms attributable to Type 1 SMA between 28 days and 3 months of age, genetic confirmation of SMA, and confirmed survival of motor neuron 2 copy number of two or unknown. The study period started on 1 January 2008 for all sites; study end dates were site-specific due to local treatment availabilities. Primary endpoints were time to death and/or permanent ventilation and proportion of patients achieving motor milestones. Secondary endpoints included time to initiation of respiratory and feeding support.

Results
Data for 60 patients from nine countries across Asia, Europe and North and South America were analyzed. The median age (interquartile range [IQR]) for reaching death or permanent ventilation was ~ 7.3 (5.9–10.5) months. The median age (IQR) at permanent ventilation was ~ 12.7 (6.9–16.4) months and at death was ~ 41.2 (7.3–not applicable) months. No patients were able to sit without support or achieved any level of crawling, standing or walking.

Interpretation
Findings from ANCHOVY were consistent with published natural history data on Type 1 SMA demonstrating the disease’s devastating course, which markedly differed from risdiplam-treated infants (FIREFISH Part 2). The results provide meaningful additions to the literature, including a broader geographical representation.
DNA methylation and transcriptomic features are preserved throughout disease recurrence and chemoresistance in high grade serous ovarian cancers
Authors: Gull Nicole , Jones Michelle R. , Peng Pei-Chen , Coetzee Simon G. , Silva Tiago C. , Plummer Jasmine T. , Reyes Alberto Luiz P. , Davis Brian D. , Chen Stephanie S. , Lawrenson Kate , Lester Jenny , Walsh Christine , Rimel Bobbie J. , Li Andrew J. , Cass Ilana , Berg Yonatan , Govindavari John-Paul B. , Rutgers Joanna K. L. , Berman Benjamin P. , Karlan Beth Y. , Gayther Simon A. 
Published: July 2022

Abstract
Background
Little is known about the role of global DNA methylation in recurrence and chemoresistance of high grade serous ovarian cancer (HGSOC).

Methods
We performed whole genome bisulfite sequencing and transcriptome sequencing in 62 primary and recurrent tumors from 28 patients with stage III/IV HGSOC, of which 11 patients carried germline, pathogenic BRCA1 and/or BRCA2 mutations.

Results
Landscapes of genome-wide methylation (on average 24.2 million CpGs per tumor) and transcriptomes in primary and recurrent tumors showed extensive heterogeneity between patients but were highly preserved in tumors from the same patient. We identified significant differences in the burden of differentially methylated regions (DMRs) in tumors from BRCA1/2 compared to non-BRCA1/2 carriers (mean 659 DMRs and 388 DMRs in paired comparisons respectively). We identified overexpression of immune pathways in BRCA1/2 carriers compared to non-carriers, implicating an increased immune response in improved survival (P = 0.006) in these BRCA1/2 carriers.

Conclusion
These findings indicate methylome and gene expression programs established in the primary tumor are conserved throughout disease progression, even after extensive chemotherapy treatment, and that changes in methylation and gene expression are unlikely to serve as drivers for chemoresistance in HGSOC.
EIF2B2 gene mutation causing early onset vanishing white matter disease: a case report
Authors: Filareto Ilaria , Cinelli Giulia , Scalabrini Ilaria , Caramaschi Elisa , Bergonzini Patrizia , Spezia Elisabetta , Todeschini Alessandra , Iughetti Lorenzo 
Published: July 2022

Abstract
Background
Leukoencephalopathy with vanishing white matter (VWM) is an autosomal recessive neurological disease. The physiopathology of disease is still little understood, but it seems to involve impairment in maturation of astrocytes; as a consequence white matter is more prone to cellular stress. Disease is caused by mutations in five genes encoding subunits of the translation initiation factor eIF2B. We know five different types of VWM syndrome classified based different ages of onset (prenatal, infantile, childhood, juvenile and adult onset).

Case presentation
We report the case of a 4-month-old boy with early seizure onset, recurrent hypoglycemia and post mortem diagnosis of vanishing white matter disease (VMD). At the admission he presented suspected critical episodes, resolved after intravenous administration of benzodiazepines. The brain MRI showed total absence of myelination that suggested hypomyelination leukoencephalopathy. The whole exome sequencing (WES) revealed a variant of EIF2B2 gene (p. Val308Met) present in homozygosity. In this case report we also describe the clinical evolution of seizures, in fact the epileptic seizures had a polymorphic aspect, from several complex partial seizures secondarily generalized to status epilepticus.

Conclusion
Infantile and early childhood onset forms are associated with chronic progressive neurological signs, with episodes of rapid neurological worsening, and poor prognosis, with death in few months or years. Clinical presentation of epilepsy is poorly documented and do not include detailed information about the type, time of onset and severity of seizures. No therapeutic strategies for VWM disease have been reported.
Ketamine for acute pain after trauma: the KAPT randomized controlled trial
Authors: Puzio Thaddeus J. , Klugh James , Wandling Michael W. , Green Charles , Balogh Julius , Prater Samuel J. , Stephens Christopher T. , Sergot Paulina B. , Wade Charles E. , Kao Lillian S. , Harvin John A. 
Published: July 2022

Abstract
Background
Evidence for effective pain management and opioid minimization of intravenous ketamine in elective surgery has been extrapolated to acutely injured patients, despite limited supporting evidence in this population. This trial seeks to determine the effectiveness of the addition of sub-dissociative ketamine to a pill-based, opioid-minimizing multi-modal pain regimen (MMPR) for post traumatic pain.

Methods
This is a single-center, parallel-group, randomized, controlled comparative effectiveness trial comparing a MMPR to a MMPR plus a sub-dissociative ketamine infusion. All trauma patients 16 years and older admitted following a trauma which require intermediate (IMU) or intensive care unit (ICU) level of care are eligible. Prisoners, patients who are pregnant, patients not expected to survive, and those with contraindications to ketamine are excluded from this study. The primary outcome is opioid use, measured by morphine milligram equivalents (MME) per patient per day (MME/patient/day). The secondary outcomes include total MME, pain scores, morbidity, lengths of stay, opioid prescriptions at discharge, and patient centered outcomes at discharge and 6 months.

Discussion
This trial will determine the effectiveness of sub-dissociative ketamine infusion as part of a MMPR in reducing in-hospital opioid exposure in adult trauma patients. Furthermore, it will inform decisions regarding acute pain strategies on patient centered outcomes.

Trial registration
The Ketamine for Acute Pain Management After Trauma (KAPT) with registration # NCT04129086 was registered on October 16, 2019.
Underrepresentation of ethnic minorities in hypertension research—a survey of enablers and barriers among South Asian and African communities in Glasgow
Authors: Lip Stefanie , Dempster Georgia , Jain Sahil , Brooksbank Katriona , Ghouri Nazim , McCallum Linsay , Padmanabhan Sandosh 
Published: July 2022

Abstract
Background
Hypertension is the biggest contributor to the global cardiovascular burden with evidence for ethnic differences in treatment response and outcomes. Under-representation of ethnic minorities in clinical research is well known, and despite wide-ranging public engagement events by the Glasgow Blood Pressure Clinic team, there was a lack of participation of ethnic minorities in both engagement activities and clinical trials conducted by them. This study aims to explore the awareness and knowledge of hypertension and the facilitators and barriers to participation in hypertension clinical research among South Asian (SA) and African (AFR) communities in Glasgow.

Methods
A survey questionnaire was co-developed with representatives from South Asian (SA) and African (AFR) patients and community members in Glasgow to understand awareness and knowledge of hypertension and enablers and barriers to participation in clinical research. The survey was distributed to adults (aged > 18) years of SA or AFR ancestry at public engagement events at venues that were frequently visited by these two communities in Glasgow.

Results
The survey response rate was 337 (67.4%) consisting of 242 (71.8%) South Asian (SA) and 56 (16.9%) African (AFR) respondents. Thirty-nine questionnaires were excluded because of incompletion. Most of the respondents were not born in the UK and were in the 35–53-year group (AFR 29 (51%), SA 113 (47%)). The proportion living in the most deprived (SIMD 1) and least deprived (SIMD 5) was respectively 26 (12.4%) and 34 (16.2%) for SA and 20 (42.6%) and 2 (4.3%) for AFR. There was a considerable recognition that treatment needs to be ethnicity-specific (SA/AFR = 107 (48%)/23 (45.1%)) and that current cardiovascular disease treatment guidelines were not tailored for different ethnicities 84 (38.5%)/23 (45.1%). The key enablers encouraging research participation are enhanced health information, conducting aspects of their clinical research visits/appointments at a location they frequently visited and allowing a family member to accompany them. Barriers included concerns about the use of personal information and side effects of the new treatment.

Conclusion
Our survey confirmed enablers and barriers to ethnic minority participation in research. We find improving and evolving awareness and beliefs among the ethnic minority population including community leaders. Thus, continual review of researchers’ beliefs and attitudes is also essential to ensure engagement activities keep up with these changing perceptions.
Efficacy and safety of progressively reducing biologic disease-modifying antirheumatic drugs in patients with rheumatoid arthritis in persistent remission: a study protocol for a non-inferiority randomized, controlled, single-blind trial
Authors: Lei Shangwen , Li Zijia , Zhang Xiaoli , Zhou Shuhong 
Published: July 2022

Abstract
Background
To compare the effects of two biologic disease-modifying antirheumatic drug (bDMARD) administration strategies on the maintenance effect and safety of patients with rheumatoid arthritis (RA) in remission, to analyze the effects of gradual drug reduction and dose maintenance treatment on clinical outcomes in patients who have achieved remission with different types of bDMARDs, to search and screen out people who may benefit from drug reduction strategies, and to provide references for drug reduction strategies and treatment options for patients with RA in remission, so as to help improve the safety of the treatment and reduce the economic burden.

Methods
The study will be a 24-month non-inferiority randomized, controlled, single-blind trial and is planned to be launched in our hospital from September 2021 to August 2023. Patients will be randomized in a ratio of 2:1 to two groups: maintenance or injection spacing by 50%/gradual reduction of dosage every 3 months up to complete stop. When the patient relapses, return to the last effective dose. If the remission can be maintained, the medication of bDMARDs can be stopped 9 months after enrollment. The primary outcome will be the persistent flare rate.

Discussion
Our study may provide a reference for the selection of drug reduction strategies and treatment options for patients with RA in remission, so as to help improve the safety of the treatment and reduce the economic burden.

Trial registration
Chinese Clinical Trial Registry ChiCTR2100044751. Registered on 26 March 2021
Effectiveness of a training intervention to improve the management of vertigo in primary care: a multicentre cluster-randomised trial, VERTAP
Authors: Patiño Jenniffer Elizabeth Pérez , Moreno José Lluís Ballvé , Matos Yolanda Rando , Ortega Jesús Almeda , Puértolas Oriol Cunillera , Muñoz Ricard Carrillo , Balboa Iván Villar , Compta Xavier González , Agudelo Olga Lucía Arias , Muñoz Sebastiá Calero , Rodríguez Vanessa Monforte , Cortes Anna Navarro , Rodríguez Eva Peguero 
Published: July 2022

Abstract
Background
Benign paroxysmal positional vertigo (BPPV) is the most common type of vertigo. While BPPV is best treated with canalicular repositioning manoeuvres, they are not routinely performed in primary care (PC).

Methods
To evaluate the effectiveness of blended training (online and face-to-face) on the diagnosis and management of vertigo to improve adherence of family doctors to clinical practice guidelines, we designed a community multicentre cluster-randomised open-label trial with an intervention (IG) and a control (GC) group of 10 primary care teams (PCT) each. Outcome variables will be ICD-10 diagnostic codes (proportion of nonspecific diagnoses such as dizziness and vertigo versus specific diagnoses such as BPPV, vestibular neuritis, and Menière’s disease); number of referrals to ENT or neurology specialists; prescription of antivertigo agents; and duration of sick leave due to vertigo. The baseline comparability of the two study groups will be analysed to ensure homogeneity. A description of all baseline variables will be performed. Student’s t-test will be used to evaluate the differences between the groups. Logistic regression multivariate analysis will be performed to study the relationship between baseline variables of professionals and centres with outcome variables.

Discussion
With the improvement of the diagnosis and management of vertigo by family doctors after this training, we expect an increase in the proportion of specific diagnoses, a decrease in the prescription of antivertigo agents, a decrease in referrals to ENT or neurology specialists and a reduction in the duration of sick leave due to temporary disability. The blended training will be easily expanded within primary care services, since it is mainly delivered online, with a single face-to-face session to ensure that the manoeuvres have been adequately learned.

Trial registration
ClinicalTrials.govNCT04929444. Registered June 18, 2021. This protocol has been approved by the Ethics Committee of the Institut Universitari d’Investigació en Atenció Primària Jordi Gol (IDIAP Jordi Gol) with the code 20/004-P. All patient data will be anonymised in agreement with the 2016/679 European Regulation.
Comparing the effect of a lactation-specific relaxation and visualisation intervention versus standard care on lactation and mental health outcomes in mothers of very premature infants (the EXPRESS trial): study protocol for a multi-centre, unmasked, randomised, parallel-group trial
Authors: Levene Ilana , Bell Jennifer L. , Cole Christina , Stanbury Kayleigh , O’Brien Frances , Fewtrell Mary , Quigley Maria A. 
Published: July 2022

Abstract
Background
Premature birth is the leading cause of neonatal death and can cause major morbidity. Maximising the amount of maternal breastmilk given to very premature infants is important to improve outcomes, but this can be challenging for parents. Parents of infants receiving neonatal care also have high rates of anxiety and distress. There is growing evidence for the impact of maternal relaxation interventions on lactation, as well as mental health. The trial will assess whether a brief self-directed relaxation and visualisation intervention, recommended for use several times a day during expression of milk, improves lactation and mental health outcomes for mothers of very premature infants.

Methods
Multi-centre, randomised, controlled, unmasked, parallel-group trial with planned 132 participants who have experienced premature birth between 23 weeks and 31 weeks and 6 days of gestation and plan to express milk for at least 14 days. The primary outcome is the highest 24-h expressed milk yield recorded on any of day 4, day 14 or day 21 after birth. Secondary outcomes include exclusive breastmilk feeding at 36 weeks post-menstrual age and at 4 months after the estimated date of delivery, Spielberger State Trait Anxiety Index at day 21 and Post-traumatic stress Check List (for DSM 5) at day 21.

Discussion
Breastmilk feeding for premature infants is an important research priority, but there are few randomised controlled trials assessing interventions to help parents reach lactation goals in this challenging context. This trial will assess whether a no cost, easily scalable relaxation tool has a role in this setting. Given the lack of harm and potential for immediate dissemination, even a small benefit could have an important global impact.

Trial registration
ISRCTN16356650. Date assigned: 19/04/2021.