bluuebunny/crossref_metadata_2025_split huggingface dataset:
A qualitative exploration of family carer’s understandings of people with dementia’s expectations for the future
Authors: Read Sheridan T , Toye Christine , Wynaden Dianne 
Published: June 2020

Background There is little evidence that outlines how family carers understand the person with dementia’s perspective, values and anticipated future needs. Whilst people with dementia should be consulted about their own quality of life and care values, carers – otherwise known as care partners – require such understandings to ensure that the support the person receives into the future upholds their quality of life and is consistent with what they desire. Aim This research aimed to explore and describe family carers’ experience of supporting the person with dementia to maintain their quality of life by understanding how carers developed an awareness and understanding of the person with dementia’s expectations for the future and what they believed was important for the person to whom they provided care. Method Using an application of the grounded theory method, data were collected from 21 carers during semi structured interviews and analysed using constant comparative analysis. Findings Four categories emerged from the data: Knowing the person, Process of decision making, Maintaining normalcy and quality of life and Out of their control. Discussion This study provides insights into how carers developed awareness of the expectations of people with dementia. Findings also illuminate carers’ perspectives of the changing nature of decision making during the dementia trajectory. Conclusion Understanding the perspective of the person living with dementia is essential to facilitate advocacy and support that is ‘person centred’ now and into the future. Assisting carers to incorporate this perspective into caring has the potential to be better facilitated by health professionals and merits further investigation.
A Qualitative Study to Explore the Needs of Lung Transplant Caregivers
Authors: Yagelniski Ashley , Rosaasen Nicola , Cardinal Louise , Fenton Mark E. , Tam Julian , Mansell Holly 
Published: June 2020

Introduction: Providing support throughout the lung transplant process is an intensive task, which requires a dedicated caregiver. The needs of caregivers who must relocate with their loved one receiving the transplant are currently unknown. The objective of this study is to explore experiences and perceptions of lung transplant caregivers identified from a satellite clinic to inform the development of educational resources. Methods: A qualitative study with a phenomenology approach was undertaken with individuals who have taken on the role of a caregiver for lung transplant candidates or recipients and must travel to the specialized transplant center. Semistructured interviews were conducted with 12 caregivers. Interviews conducted by phone were audio-recorded and then transcribed verbatim. NVivo software was used to code the data and identify emerging themes. Results: Ideas were classified into the following 4 themes: (1) the stress of being a caregiver, (2) caregivers undertake a variety of roles, (3) caregivers require support, and (4) satisfaction with health care providers. Even though the caregivers lived an average of 7.1 (standard deviation 2) hours from the surgical transplant center, all expressed satisfaction with the level of care that they received. Caregivers identified several stressors during the transplant process and described various strategies for coping. Conclusion: Caregivers shared their experiences on the transplant process. It was evident that being a caregiver was a stressful and supports were necessary for those undertaking this role. These insights will help inform the development of a new educational resource for patients and caregivers.
Results of a three-year follow-up after endovascular therapy with multilayer flow modulator in complex thoracoabdominal aortic aneurysm: A case report
Authors: Kankılıç Nazım , Aydın Mehmet S 
Published: June 2020

Objectives Studies on the short-, medium and long-term effects of flow guiding stents are still limited. In this case report, we present three-year follow-up of the multilayer flow modulator stent in a 55-year-old patient with Crawford Type 2 thoracoabdominal aortic aneurysm. Methods A 55-year-old male patient with Crawford Type 2 thoracoabdominal aortic aneurysm had applied to our medical center. The aneurysm involved coeliac truncus and superior mesenteric artery and extended to the renal artery ostia. Multilayer flow modulator stent was successfully placed, and follow-up CT (Computed tomography) angiographic examination images recorded intermittently (36 months). Results After three years, it was observed that the left renal artery was thrombosed and the left kidney went to atrophy. Other major vascular branches were observed to be open. During this time, the aneurysm was completely closed with thrombus, but the diameter of the aneurysm continued to increase. Conclusions Multilayer flow modulator stents are safe in complex aortic aneurysms. The device increases the thrombus load in the aortic aneurysm and maintains the flow of the main vascular branches. But re-interventions, dilatation of the aneurysm sac and visceral branch obstructions are still challenging for multilayer flow modulator stents.
Purposive sampling: complex or simple? Research case examples
Authors: Campbell Steve , Greenwood Melanie , Prior Sarah , Shearer Toniele , Walkem Kerrie , Young Sarah , Bywaters Danielle , Walker Kim 
Published: June 2020

Background Purposive sampling has a long developmental history and there are as many views that it is simple and straightforward as there are about its complexity. The reason for purposive sampling is the better matching of the sample to the aims and objectives of the research, thus improving the rigour of the study and trustworthiness of the data and results. Four aspects to this concept have previously been described: credibility, transferability, dependability and confirmability. Aims The aim of this paper is to outline the nature and intent of purposive sampling, presenting three different case studies as examples of its application in different contexts. Results Presenting individual case studies has highlighted how purposive sampling can be integrated into varying contexts dependent on study design. The sampling strategies clearly situate each study in terms of trustworthiness for data collection and analysis. The selected approach to purposive sampling used in each case aligns to the research methodology, aims and objectives, thus addressing each of the aspects of rigour. Conclusions Making explicit the approach used for participant sampling provides improved methodological rigour as judged by the four aspects of trustworthiness. The cases presented provide a guide for novice researchers of how rigour may be addressed in qualitative research.
Periorbital and Globe Injuries in Pediatric Orbital Fractures: A Retrospective Review of 116 Patients at a Level 1 Trauma Center
Authors: Halsey Jordan , Argüello-Angarita Marvin , Carrasquillo Osward Y. , Hoppe Ian C. , Lee Edward S. , Granick Mark S. 
Published: June 2020

Study Design: Retrospective chart review of pediatric and globe injuries associated with orbital fractures. Objective: Our study seeks to examine these injuries and their association with orbital fractures at our trauma center to gain a better understanding of how to approach pediatric patients with orbital fractures. Methods: A retrospective review of all facial fractures in pediatric patients at an urban level 1 trauma center was performed for the years 2002 to 2014. Patient demographics were collected, as well as orbital fracture location, mechanism of injury, concomitant injuries, ophthalmologic documentation, imaging, and perioperative records. Results: One hundred sixteen pediatric patients over a 12-year period sustained an orbital fracture. The orbital floor was the most commonly fractured orbital bone in our series (60%). Thirty-four (30%) of the pediatric patients with orbital fractures had documented periorbital and/or globe injuries at the time of presentation. The most common periorbital injury was entrapment related to orbital floor fractures. Significant eyelid lacerations were present in seven patients, with five of these patients had canalicular injuries and two had canthal malposition. Five pediatric patients presented with traumatic optic neuropathy. Two patients had ruptured globes requiring enucleation. Conclusions: Periorbital soft tissue and globe injuries associated with orbital fractures occurs in a substantial number of pediatric patients. There are no guidelines for treatment of these type of injuries in the pediatric population. Further research should be performed to better understand the appropriate management of periorbital injuries in conjunction with surgical management of the orbital fractures.
Effect of whole soy and isoflavones daidzein on bone turnover and inflammatory markers: a 6-month double-blind, randomized controlled trial in Chinese postmenopausal women who are equol producers
Authors: Liu Zhao-min , Chen Bailing , Li Shuyi , Li Guoyi , Zhang Di , Ho Suzanne C. , Chen Yu-ming , Ma Jing , Qi Huang , Ling Wen-hua 
Published: June 2020

Background: Human studies have demonstrated the beneficial effects of soy or isoflavones on bone metabolism. However, conflicting data remain. Equol is the intestinal metabolite of the isoflavone daidzein. The health benefits of soy are more pronounced in equol producers than those not producing equol. This 6-month randomized controlled trial aimed to examine the effect of whole soy (soy flour) and purified daidzein on bone turnover markers (BTMs) in Chinese postmenopausal women who are equol producers. Methods: A total of 270 eligible women were randomized to either one of the three isocaloric supplements as follows: 40 g soy flour (whole soy group), 40 g low-fat milk powder + 63 mg daidzein (daidzein group), or 40 g low-fat milk powder (placebo group) given as a solid beverage daily for 6 months. The following fasting venous samples were collected at the baseline and end of the trial to analyze BTMs: serum cross-linked C-telopeptides of type I collagen, bone-specific alkaline phosphatase, osteocalcin, procollagen type I N-terminal propeptide, and 25(OH)D3. Inflammation-related biomarkers, such as serum interleukin-6, tumor necrosis factor-alpha, C-reactive protein, transferrin, and homocysteine, were also tested to explore potential mechanisms. Results: A total of 253 subjects validly completed the study protocol. Urinary isoflavones suggested a good compliance to the treatments. Intention-to-treat and per-protocol analyses indicated no significant difference in the 6-month or percentage changes in the parameters of bone metabolism and inflammatory markers among the three treatment groups. Conclusions: Whole soy and purified daidzein at provided dosages exhibited no significant effect on the bone metabolism and inflammation levels among Chinese equol-producing postmenopausal women. Trial registration: ClinicalTrials.gov identifier NCT01270737.
Quick-DASH as a main early outcome of humeral shaft fractures: A Latin American multicenter prospective study
Authors: Belangero William Dias , Zublin Carlos Miguel , Quintero Renny Augusto Cardenas , Romero Fabio Alfonso Suarez , Fernandes Hélio Jorge Alvachian , Siekavizza Sergio Nicolas Martinez , Rosenberg Guillermo Francisco Sánchez , Azi Matheus Lemos , Elguezaba Igor Escalante , Badell Gerardo , Mouraria Guilherme , Kojima Kodi Edson , Triana Miguel , Mere Jose Antonio Prieto , Baldo Manuel Jose Malaret , Mariolani José Ricardo Lenzi 
Published: June 2020

Purpose: The main objective of this study was to evaluate the Quick-Disabilities of the Arm, Shoulder and Hand Score (DASH) score as the main early (90 days) outcome in a prospective multicenter observational Latin American study on isolated humeral shaft fractures. Methods: From December 2015 to April 2017, in six Latin American countries, patients 18 years or older with a closed, isolated nonpathological 12A, 12B, or 12C AO/OTA (Arbeitsgemeinschaft für Osteosynthesefragen/Orthopaedic Trauma Association) fractures were included. The 90 (±10)-day Quick-DASH score was used to compare the results of the different treatments. The secondary outcomes were patient treatment satisfaction, shoulder and elbow range of motion, and radiographic evaluation. Results: A total of 92 patients successfully completed the Quick-DASH questionnaire. Surgical treatments resulted in better outcomes than nonsurgical treatment, but only minimally invasive plate osteosynthesis produced significantly lower Quick-DASH scores than nonsurgical treatment ( p < 0.05). There were strong correlations between patient self-evaluation and the Quick-DASH score ( p < 0.0005) but not between the Quick-DASH score and radiographic fracture healing. No significant difference was found between the treatments regarding the rate of return to work, but the medical center had a significant influence on treatment choice ( p < 0.0005). Conclusion: The high correlation between Quick-DASH score and patient satisfaction and functional outcome indicates that the Quick-DASH questionnaire is a suitable tool for evaluating adult humeral shaft fracture outcomes. Patients with a Quick-DASH score below 15 could be considered recovered, and patients with a Quick-DASH score above 40 could be considered not yet recovered. Quick-DASH scores were not significantly associated with radiographic fracture healing.
Conservative versus repair of medial patellofemoral ligament for the treatment of patients with acute primary patellar dislocations: A systematic review and meta-analysis
Authors: Tian Gengshuang , Yang Guangmin , Zuo Lixiong , Li Faquan , Wang Fei 
Published: June 2020

Purpose: The aim of this study was to perform a meta-analysis to compare the effects of repair of medial patellofemoral ligament (MPFL) and conservative treatment in patients with acute primary patellar dislocation (PPD). Method: The databases we used to search the studies included MEDILINE, EMBASE, and Cochrane registry of controlled clinical trials. Five randomized controlled studies comparing the effects of MPFL repair versus conservative treatment with 300 acute PPD patients were included in the present meta-analysis. Primary outcome was redislocation rate and secondary outcomes included Kujala score, percentage of excellent or good subjective opinion, Tegner activity score, and knee injury and osteoarthritis outcome score (KOOS; pain, symptoms, and activities of daily living). Results: The outcome of the Kujala score was statistically significant between the two treatments and indicated that MPFL repair had a higher Kujala score than conservative treatment in patients with acute PPD. There was no significant difference between the two treatments regarding the redislocation rate ( p = 0.32), percentage of excellent or good subjective opinion ( p = 0.15), Tegner activity score ( p = 0.24), and KOOS ( p > 0.05). Conclusions: Based on the available data, MPFL repair did not reduce the risk of redislocation nor did it produce any significantly better outcome based on the clinical manifestations, including anterior knee pain and knee activities. Only the Kujala score was improved by MPFL repair compared with conservative treatment.
The insulin signaling pathway is dysregulated in cumulus cells from obese, infertile women with polycystic ovarian syndrome with an absence of clinical insulin resistance
Authors: Chehin Mauricio B. , Fraietta Renato , Lorenzon Aline R. , Bonetti Tatiana C.S. , Motta Eduardo L.A. 
Published: June 2020

Methods: This is a cohort study, conducted at a university-based reproductive medicine center and private reproductive medicine center that aimed to evaluate granulosa cumulus cell gene expression in the insulin signaling pathway in Polycystic Ovary Syndrome (PCOS) patients undergoing in vitro fertilization (IVF) treatment and to compare the cumulus gene expression between normal weight and obese women without clinical insulin resistance. Fifteen PCOS patients, nine normal weight patients and six obese patients presenting normal HOMA IR (Homeostasis Model Assessment–Insulin Resistance), participated. Patients underwent oocyte retrieval for IVF and after the procedure, granulosa cumulus cells were removed from the oocytes for RNA extraction. Quantitative polymerase chain reaction (PCR) array analysis of 84 genes from insulin signaling pathway was conducted. The results were expressed as fold up- or fold down-expression in obese patients compared with normal weight patients. Any fold change ⩾3 or ⩽3 and any p ⩽ 0.05 were considered statistically significant. Results: There were 10 genes that were overexpressed in obese compared with normal weight women, BCL2L1, BRAF, CBL, DOK1, FBP1, FRS2, MTOR, PCK2, RPS6KA1, and SORBS1, that had a fold change ⩾3 and p ⩽ 0.05. Discussion: In the obese group, the overexpressed genes are mainly responsible for the proliferation and differentiation of cumulus cells during oocyte maturation, insulin resistance, apoptosis regulation, and glucose metabolism during early embryogenesis, suggesting that in the follicular environment, insulin resistance is present even in the absence of clinical signs. Conclusion: Together, our findings and the related literature suggest that those alterations may be associated with the worse prognosis of follicular development and oocyte maturation observed in PCOS obese women.
Sequencing of RNA in single cells reveals a distinct transcriptome signature of hematopoiesis in GATA2 deficiency
Authors: Wu Zhijie , Gao Shouguo , Diamond Carrie , Kajigaya Sachiko , Chen Jinguo , Shi Rongye , Palmer Cindy , Hsu Amy P. , Calvo Katherine R. , Hickstein Dennis D. , Holland Steven M. , Young Neal S. 
Published: June 2020

Abstract
Constitutional GATA2 deficiency caused by heterozygous germline GATA2 mutations has a broad spectrum of clinical phenotypes, including systemic infections, lymphedema, cytopenias, and myeloid neoplasms. Genotype–phenotype correlation is not well understood mechanistically in GATA2 deficiency. We performed whole transcriptome sequencing of single hematopoietic stem and progenitor cells from 8 patients, who had pathogenic GATA2 mutations and myelodysplasia. Mapping patients’ cells onto normal hematopoiesis, we observed deficiency in lymphoid/myeloid progenitors, also evident from highly constrained gene correlations. HSPCs of patients exhibited distinct patterns of gene expression and coexpression compared with counterparts from healthy donors. Distinct lineages showed differently altered transcriptional profiles. Stem cells in patients had dysregulated gene expression related to apoptosis, cell cycle, and quiescence; increased expression of erythroid/megakaryocytic priming genes; and decreased lymphoid priming genes. The prominent deficiency in lympho-myeloid lineages in GATA2 deficiency appeared at least partly due to the expression of aberrant gene programs in stem cells prior to lineage commitment. We computationally imputed cells with chromosomal abnormalities and determined their gene expression; DNA repair genes were downregulated in trisomy 8 cells, potentially rendering these cells vulnerable to second-hit somatic mutations and additional chromosomal abnormalities. Cells with complex cytogenetic abnormalities showed defects in genes related to multilineage differentiation and cell cycle. Single-cell RNA sequencing is powerful in resolving transcriptomes of cell subpopulations despite a paucity of cells in marrow failure. Our study discloses previously uncharacterized transcriptome signatures of stem cells and progenitors in GATA2 deficiency, providing a broad perspective of potential mechanisms by which germline mutations modulate early hematopoiesis in a human disease. This trial was registered at www.clinicaltrials.gov as NCT01905826, NCT01861106, and NCT00001620.
Multiple functions of the scaffold protein Discs large 5 in the control of growth, cell polarity and cell adhesion in Drosophila melanogaster
Authors: Venugopal Parvathy , Veyssière Hugo , Couderc Jean-Louis , Richard Graziella , Vachias Caroline , Mirouse Vincent 
Published: June 2020

Abstract
Background
Scaffold proteins support a variety of key processes during animal development. Mutant mouse for the MAGUK protein Discs large 5 (Dlg5) presents a general growth impairment and moderate morphogenetic defects.

Results
Here, we generated null mutants for Drosophila Dlg5 and show that it owns similar functions in growth and epithelial architecture. Dlg5 is required for growth at a cell autonomous level in several tissues and at the organism level, affecting cell size and proliferation. Our results are consistent with Dlg5 modulating hippo pathway in the wing disc, including the impact on cell size, a defect that is reproduced by the loss of yorkie. However, other observations indicate that Dlg5 regulates growth by at least another way that may involve Myc protein but nor PI3K neither TOR pathways. Moreover, epithelia cells mutant for Dlg5 also show a reduction of apical domain determinants, though not sufficient to induce a complete loss of cell polarity. Dlg5 is also essential, in the same cells, for the presence at Adherens junctions of N-Cadherin, but not E-Cadherin. Genetic analyses indicate that junction and polarity defects are independent.

Conclusions
Together our data show that Dlg5 own several conserved functions that are independent of each other in regulating growth, cell polarity and cell adhesion. Moreover, they reveal a differential regulation of E-cadherin and N-cadherin apical localization.
Further identification of a 140bp sequence from amid intron 9 of human FMR1 gene as a new exon
Authors: Yang Wen-jing , Yan Ai-zhen , Xu Yong-jun , Guo Xiao-yan , Fu Xian-guo , Li Dan , Liao Juan , Zhang Duo , Lan Feng-hua 
Published: June 2020

Abstract
Background
The disease gene of fragile X syndrome, FMR1 gene, encodes fragile X mental retardation protein (FMRP). The alternative splicing (AS) of FMR1 can affect the structure and function of FMRP. However, the biological functions of alternatively spliced isoforms remain elusive. In a previous study, we identified a new 140bp exon from the intron 9 of human FMR1 gene. In this study, we further examined the biological functions of this new exon and its underlying signaling pathways.

Results
qRT-PCR results showed that this novel exon is commonly expressed in the peripheral blood of normal individuals. Comparative genomics showed that sequences paralogous to the 140 bp sequence only exist in the genomes of primates. To explore the biological functions of the new transcript, we constructed recombinant eukaryotic expression vectors and lentiviral overexpression vectors. Results showed that the spliced transcript encoded a truncated protein which was expressed mainly in the cell nucleus. Additionally, several genes, including the BEX1 gene involved in mGluR-LTP or mGluR-LTD signaling pathways were significantly influenced when the truncated FMRP was overexpressed.

Conclusions
our work identified a new exon from amid intron 9 of human FMR1 gene with wide expression in normal healthy individuals, which emphasizes the notion that the AS of FMR1 gene is complex and may in a large part account for the multiple functions of FMRP.