bluuebunny/crossref_metadata_2025_split huggingface dataset:
The “floating ulna” injury in adults: a case report, literature review and proposed injury classification
Authors: He Tian , Wang Xin , Sun Shui , Zhou Lugang 
Published: January 2021

Abstract
Background
Ipsilateral Galeazzi fracture with elbow dislocation, namely the “floating ulna” injury, is a rare injury pattern. A few reports have described this type of injury and its treatment.

Case presentation
A 33-year-old female at 38+ weeks gestational age presented with Galeazzi fracture and posterolateral elbow dislocation of the left upper extremity. The patient was treated with closed reduction of the elbow, open reduction, and internal fixation of the radial shaft fracture with a dynamic compression plate and K-wire stabilization of the unstable distal radioulnar joint. At the 12-month follow-up, the patient had no pain or signs of instability. Range of motion was 0–135° at the elbow, 70° extension and 80° flexion at the wrist, and 80° supination and 80° pronation at the forearm.

Conclusion
The “floating ulna” injury is a rare and special injury pattern with ipsilateral Galeazzi fracture and elbow dislocation. This type of injury was likely caused by significant amount of deforming force and the unique position of upper limb when the patient fell from a height of 1–2 m in high-energy trauma.
Bladder squamous cell carcinoma in a pregnant woman: case report and review of the literature
Authors: Rojas Pablo A. , González Cristián , Mendez Gonzalo P. , Majerson Alejandro , San Francisco Ignacio F. 
Published: January 2021

Abstract
Background
Bladder tumors in pregnancy are extremely rare. No more than 50 cases have been published to date, including all histologic variants, and only three cases of bladder squamous cell carcinoma have been described.

Case presentation
We present a clinical case of a 31-year-old woman with bladder squamous cell carcinoma in the second trimester of pregnancy. After a C-section at 30 weeks, we performed radical cystectomy with extended bilateral lymphadenectomy, hysterectomy and right oophorectomy. The Studer neobladder technique was performed for urinary tract reconstruction. Definitive pathology showed invasive bladder squamous cell carcinoma, Grade 2, with microscopic infiltration of the perivesical fat, negative margins, and 3/28 lymph nodes with carcinoma (pT3aN2M0). The patient underwent 18 months of surveillance after radical cystectomy, without recurrence by PET-CT.

Conclusions
Bladder cancer in pregnant women is extremely rare but must be considered in those with recurrent gross hematuria and/or recurrent urinary tract infection. To our knowledge, this case involves the longest recurrence-free survival of a pregnant woman with squamous cell bladder cancer published thus far.
Frequency and clinical characteristics of HER2 over-expressed breast cancer in Saudi Arabia: a retrospective study
Authors: Zekri Jamal , Saadeddin Ahmed , Alharbi Hulayel 
Published: January 2021

Abstract
Introduction
This study aimed to determine the frequency of human epidermal growth factor receptor 2 (HER2) over-expression in newly diagnosed breast cancer (BC) patients in Saudi Arabia and to assess the clinical characteristics and outcomes in patients with HER2-positive disease.

Methods
In the first part of the study, we retrospectively reviewed the pathology records of all patients diagnosed with BC between 2007 and 2013 at 3 hospitals in the largest 3 cities in Saudi Arabia to determine the frequency of HER2 over-expression. In the second part, a representative sample from the patients identified with HER2 over-expressed BC was selected for further investigation. Data collected included demographic and clinical characteristics such as hormone-receptor status, treatment regimens, survival data, response to treatment, and selected adverse events.

Results
1867 BC records were included in the study. HER2 was overexpressed in 559 patients (29.9%); of those, 348 HER2-positive BC patients were included in subsequent analyses. In the sample of HER2-positive BC patients, median age at diagnosis was 46 years, 0.9% were male, 92.5% were Saudi, 42.4% were Hormone Receptor-negative, and 13.1% had stage IV tumors. Most patients (84.2%) underwent curative intent surgery and 71.8% received radiotherapy. Average tumor size was 3.5 ± 2.5 cm and infiltrating ductal carcinoma was the most common pathology (92.9%). As for pharmacological therapy, the most commonly used regimens were Chemotherapy + Trastuzumab combination (79.1%) in neoadjuvant setting, Hormonotherapy alone (56.2%) in adjuvant setting, and Chemotherapy + Targeted therapy combination (64.8%) as palliative treatment. At the last patient evaluation, 36.9% had complete response, while 33.2% had progressive disease. Median overall survival (OS) and progression-free survival (PFS) were not reached in patients on neoadjuvant/adjuvant pharmacotherapy. As for patients on palliative intent pharmacotherapy, median OS and PFS were 64.7 and 29.3 months respectively.

Conclusion
This study provided updated figures regarding HER2 overexpression in BC in Saudi Arabia: HER2 overexpression rate (29.9%) was within the range reported in previous studies. Patients’ demographic and clinical characteristics were also similar to those reported earlier, with a median age at diagnosis of 46 years and one third of patients having locally advanced/metastatic disease at diagnosis.
Systematic elucidation of the pharmacological mechanisms of Rhynchophylline for treating epilepsy via network pharmacology
Authors: Geng Hua , Chen Xuqin , Wang Chengzhong 
Published: January 2021

Abstact
Background
Epilepsy, one of the most common neurological disorders, affects over 70 million people worldwide. Rhynchophylline displays a wide variety of pharmacologic actives. However, the pharmacologic effects of rhynchophylline and its mechanisms against epilepsy have not been systematically elucidated.

Methods
The oral bioavailability and druglikeness of rhynchophylline were evaluated using the Traditional Chinese Medicine Systems Pharmacology Database. Rhynchophylline target genes to treat epilepsy were identified using PharmMapper, SwissTargetPrediction and DrugBank databases integration. Protein-protein interaction analysis was carried out by utilizing the GeneMANIA database. WebGestalt was employed to perform Gene ontology and Kyoto Encyclopedia of Genes and Genomes pathway enrichment analyses. The drug-disease-target-Gene Ontology-pathway network was constructed using Cytoscape.

Results
The oral bioavailability and druglikeness of rhynchophylline were calculated to be 41.82% and 0.57, respectively. A total of 20 rhynchophylline target genes related to epilepsy were chosen. Among the 20 genes and their interacting genes, 54.00% shared protein domains and 16.61% displayed co-expression characteristics. Gene ontology, Kyoto Encyclopedia of Genes and Genomes and network analyses illustrate that these targets were significantly enriched in regulation of sensory perception, morphine addiction, neuroactive ligand-receptor interaction and other pathways or biological processes.

Conclusion
In short, rhynchophylline targets multiple genes or proteins, biological processes and pathways. It shapes a multiple-layer network that exerts systematic pharmacologic activities on epilepsy.
Medical teachers’ opinions about students with neurodevelopmental disorders and their management
Authors: Magnin Eloi , Ryff Ilham , Moulin Thierry 
Published: January 2021

Abstract
Background
Some students have neurodevelopmental disorders that might affect their academic and professional careers if they are not identified and addressed by specific pedagogic adaptations. The objective of this work was to describe medical teachers’ opinions of students with neurodevelopmental disorders and their management of these students.

Methods
An anonymous cross-sectional electronic survey was performed to describe medical teachers’ opinions about the impact of neurodevelopmental disorders on the student’s life and on the medical teachers’ management. aThe survey was created, including visual analogic scales and free text, to assess teachers’ opinions from identification and assessment of neurodevelopemental burden on students and teachers, to their own knowledge about neurodevelopemental disorders and the specific pedagogic management available. The survey was sent to 175 medical teachers in 2019, of whom 67 responded. Quantitative descriptive statistics and qualitative analysis of free text were reported.

Results
Many medical teachers report having encountered students who might have had neurodevelopmental disorders (dyspraxia 33%; dyslexia 46%; autism spectrum disorders 68%; attention deficit hyperactivity disorders 75%). Impact on students and on teachers was considered as important (mean VAS score for impact over 60/100 for all syndromes except for dyspraxia). Medical teachers’ self-reported knowledge about neurodevelopmental disorders (mean VAS score 43.9/100) and available pedagogical adaptations (mean VAS score 19.0/100) was limited. The teachers were concerned about ethical issues (mean VAS score 72.2/100) but were interested in receiving specialized training (mean VAS score 64.4/100).

Conclusion
Medical teachers feel unprepared to manage students with neurodevelopmental disorders. They would be interested in specific training and procedures about the pedagogic management of these students.
Effectiveness of hospital emergency department regionalization and categorization policy on appropriate patient emergency care use: a nationwide observational study in Taiwan
Authors: Lin Chih-Yuan , Lee Yue-Chune 
Published: January 2021

Abstract
Background
Emergency department (ED) overcrowding is a health services issue worldwide. Modern health policy emphasizes appropriate health services utilization. However, the relationship between accessibility, capability, and appropriateness of ED use is unknown. Thus, this study aimed to examine the effect of hospital ED regionalization policy and categorization of hospital emergency capability policy (categorization policy) on patient-appropriate ED use.

Methods
Taiwan implemented a nationwide three-tiered hospital ED regionalization and categorization of hospital emergency capability policies in 2007 and 2009, respectively. We conducted a retrospective observational study on the effect of emergency care policy intervention on patient visit. Between 2005 and 2011, the Taiwan National Health Insurance Research Database recorded 1,835,860 ED visits from 1 million random samples. ED visits were categorized using the Yang-Ming modified New York University-ED algorithm. A time series analysis was performed to examine the change in appropriate ED use rate after policy implementation.

Results
From 2005 to 2011, total ED visits increased by 10.7%. After policy implementation, the average appropriate ED visit rate was 66.9%. The intervention had no significant effect on the trend of appropriate ED visit rate.

Conclusions
Although regionalization and categorization policies did increase emergency care accessibility, it had no significant effect on patient-appropriate ED use. Further research is required to improve data-driven policymaking.
Identification of a novel mutation in the KITLG gene in a Chinese family with familial progressive hyper- and hypopigmentation
Authors: Wang Jianbo , Li Weisheng , Zhou Naihui , Liu Jingliu , Zhang Shoumin , Li Xueli , Li Zhenlu , Yang Ziliang , Sun Miao , Li Min 
Published: January 2021

AbstractBackgroundFamilial progressive hyper- and hypopigmentation (FPHH, MIM 145250) is a rare hereditary skin disorder that is predominantly characterized by progressive, diffuse, partly blotchy hyperpigmented lesions intermingled with scattered hypopigmented spots, lentigines and sometimes Cafe-au-lait spots (CALs). Heterozygous mutations of the KIT ligand (KITLG, MIM 184745) gene are responsible for FPHH. To date, only eightKITLGmutations have been reported to be associated with FPHH, and no clear genotype–phenotype correlations have been established. This study aimed to identify the causative mutations in theKITLGgene in two Chinese FPHH patients.MethodsDirect sequencing of the coding regions ofKITLGwas performed. Pathogenicity prediction was performed using bioinformatics tools, including SIFT, Polyphen2, and SWISS-MODEL, and the results were further evaluated according to the 2015 American College of Medical Genetics and Genomics (ACMG) guidelines.ResultsThe novel mutation c.104A > T (p.Asn35Ile) and the recurrent mutation c.101C > T (p.Thr34Ile) inKITLGwere identified. As shown using SIFT and Polyphen-2 software, both mutations identified in this study were predicted to be detrimental variations. Three-dimensional protein structure modeling indicated that the mutant KITLG proteins might affect the affinity of KITLG for its receptor, c-KIT. According to the 2015 ACMG guidelines, the novel mutation c.104A > T was ‘likely pathogenic’.ConclusionsTo date, most of the identifiedKITLGmutations have been clustered within the conserved VTNNV motif (amino acids 33–37) in exon 2. The known mutations are only involved in 33 V, 34 T, 36 N, and 37 V but not 35 N. We have now identified a novel mutation inKITLG, c.104A > T, that was first reported in FPHH within the conserved 35 N motif. These results strengthen our understanding of FPHH and expand the mutational spectrum of theKITLGgene.
RETRACTED ARTICLE: Targeting MALAT1 and miRNA-181a-5p for the intervention of acute lung injury/acute respiratory distress syndrome
Authors: Liu Yaling , Wang Xiaodong , Li Peiying , Zhao Yanhua , Yang Liqun , Yu Weifeng , Xie Hong 
Published: January 2021

Abstract
Background
ALI/ARDS is a severe lung injury leading to refractory respiratory failure, accounting for high morbidity and mortality. However, therapeutic approaches are rather limited. Targeting long non-coding RNA MALAT1 and microRNA miR-181a-5p might be potential option for ALI/ARDS intervention.

Objective
We aimed to investigate the role of MALAT and miR-181a-5p in the pathogenesis of ALI/ARDS, and test the therapeutic effects of targeting MALAT and miR-181a-5p for ALI/ARDS intervention in vitro.

Methods
MALAT1 and miR-181a-5p levels were measured in plasma from ALI/ARDS patients. In vitro human pulmonary microvascular endothelial cell (HPMEC) injury was induced by LPS treatment, and molecular targets of MALAT1 and miR-181a-5p were explored by molecular biology approaches, mainly focusing on cell apoptosis and vascular inflammation. Interaction between MALAT1 and miR-181a-5p was also detected. Finally, the effects of targeting MALAT1 and miR-181a-5p for ALI/ARDS intervention were validated in a rat ALI/ARDS model.

Results
MALAT1 upregulation and miR-181a-5p downregulation were observed in ALI/ARDS patients. Transfection of mimic miR-181a-5p into HPMECs revealed decreased Fas and apoptosis, along with reduced inflammatory factors. Fas was proved to be a direct target of miR-181a-5p. Similar effects were also present upon MALAT1 knockdown. As for the interaction between MALAT1 and miR-181a-5p, MALAT1 knockdown increased miR-181a-5p expression. Knocking down of MALAT1 and miR-181a-5p could both improve the outcome in ALI/ARDS rats.

Conclusion
MALAT1 antagonism or miR-181a-5p could both be potential therapeutic strategies for ALI/ARDS. Mechanistically, miR-181a-5p directly inhibits Fas and apoptosis, along with reduced inflammation. MALAT1 negatively regulates miR-181a-5p.
Mutation profile of non-small cell lung cancer revealed by next generation sequencing
Authors: Chang Ya-Sian , Tu Siang-Jyun , Chen Yu-Chia , Liu Ting-Yuan , Lee Ya-Ting , Yen Ju-Chen , Fang Hsin-Yuan , Chang Jan-Gowth 
Published: January 2021

Abstract
Background
Precision therapy for lung cancer requires comprehensive genomic analyses. Specific effects of targeted therapies have been reported in Asia populations, including Taiwanese, but genomic studies have rarely been performed in these populations.

Method
We enrolled 72 patients with non-small cell lung cancer, of whom 61 had adenocarcinoma, 10 had squamous cell carcinoma, and 1 had combined adenocarcinoma and squamous cell carcinoma. Whole-exome or targeted gene sequencing was performed. To identify trunk mutations, we performed whole-exome sequencing in two tumor regions in four patients.

Results
Nineteen known driver mutations in EGFR, PIK3CA, KRAS, CTNNB1, and MET were identified in 34 of the 72 tumors evaluated (47.22%). A comparison with the Cancer Genome Atlas dataset showed that EGFR was mutated at a much higher frequency in our cohort than in Caucasians, whereas KRAS and TP53 mutations were found in only 5.56% and 25% of our Taiwanese patients, respectively. We also identified new mutations in ARID1A, ARID2, CDK12, CHEK2, GNAS, H3F3A, KDM6A, KMT2C, NOTCH1, RB1, RBM10, RUNX1, SETD2, SF3B1, SMARCA4, THRAP3, TP53, and ZMYM2. Moreover, all ClinVar pathogenic variants were trunk mutations present in two regions of a tumor. RNA sequencing revealed that the trunk or branch genes were expressed at similar levels among different tumor regions.

Conclusions
We identified novel variants potentially associated with lung cancer tumorigenesis. The specific mutation pattern in Taiwanese patients with non-small cell lung cancer may influence targeted therapies.
Perinatal psychological interventions to promote breastfeeding: a narrative review
Authors: Gómez Lidia , Verd Sergio , de-la-Banda Gloria , Cardo Esther , Servera Mateu , Filgueira Ana , Ponce-Taylor Jaume , Mulet Margarita 
Published: January 2021

Abstract
Background
Emotional distress in mothers inhibits the let-down reflex, thus affecting breastfeeding self-efficacy. A breastfeeding mother may have to cope with both physical discomfort and psychological distress. However, literature on initiatives to improve breastfeeding rates has focused mainly on providing community-based peer support, or social policies. The aim of this review is to assess evidence on the effectiveness of a broad range of psychological interventions to facilitate breastfeeding for mothers facing difficulties around the time of delivery.

Methods
The review of the literature is derived from a search on Cochrane Library, PubMed, EBSCOhost, and PsycINFO for papers published since 1980. The approach was to explore quantitative and qualitative parameters. Quantitative parameters included breastfeeding initiation, duration, and composition. Qualitative parameters recorded the evaluation of maternal perceptions on breastfeeding success. The high heterogeneity of the studies led to a narrative review; 20 selected papers that report on breastfeeding outcomes and psychological programs met the inclusion criteria.

Results
The evidence on breastfeeding support through psychotherapy is heterogeneous and scant. Out of the included studies, 11 were randomized controlled trials, two were non-randomised trials, and two used a quasi-experimental design. None of the studies reported an increase in adverse breastfeeding outcomes. Three studies failed to report an association between psychological procedures and improved breastfeeding outcomes. A literature review showed that 17 (85%) analyses support stress-releasing techniques to facilitate breastfeeding.

Conclusions
This review suggests that relaxation interventions carefully tailored to address perinatal emotional distress may lead to important health benefits, including improvement in breastfeeding outcomes. There is also some indication that psychotherapy support while breastfeeding may have more impact than routine counselling. Conversely, this review did not find an association between self-hypnosis and breastfeeding outcomes. Data from this study can be used in designing prevention programs and future research with appropriate theoretical underpinning.
Supporting sexuality for people living with epidermolysis bullosa: clinical practice guidelines
Authors: King Alex , Hanley Humphrey , Popenhagen Mark , Perez Florencia , Thompson Kerry , Purvis Diana , Garcia Nora , Steinlein Ida , Werkentoft Mia , Lightfoot Matthew , Lahat Michelle , Begum Kalsoom , Tanabe Julio 
Published: January 2021

AbstractThis article presents evidence-based Clinical Practice Guidelines (CPG) for the provision of healthcare services to address sexuality for people living with epidermolysis bullosa (EB). Currently, a lack of EB-specific research limits these services to sexual health assessment and intervention strategies designed for the general population. Due to the unique challenges of EB, a rare skin-fragility condition causing blistering responses to minor skin trauma and other systemic and secondary complications, condition-specific strategies are needed to support people with EB in achieving valued sexual lifestyles. This CPG represents the work of an international panel comprised of thirteen members including a medical doctor, nurses, psychologists, a social worker, an occupational therapist, and patient population involvement members living with EB. It describes the development of EB-specific recommendations for two primary domains of assessment and intervention related to sexuality: psychosocial and mechanical. Following a rigorous evidence-based guideline development process, this CPG establishes the first internationally actionable clinical practice recommendations for sexuality-related assessment and intervention for this population. Future research priorities are identified. Supplemental materials included provide additional support to clinicians in developing the necessary understanding and skills to promote equity and efficacy in this care domain.
A case analysis of partnered research on palliative care for refugees in Jordan and Rwanda
Authors:   the Humanitarian Health Ethics Research Group, de Laat Sonya , Wahoush Olive , Jaber Rania , Khater Wejdan , Musoni Emmanuel , Abu Siam Ibraheem , Schwartz Lisa 
Published: January 2021

Abstract
Background
This case analysis describes dilemmas and challenges of ethical partnering encountered in the process of conducting a research study that explored moral and practical dimensions of palliative care in humanitarian crisis settings. Two contexts are the focus of this case analysis: Jordan, an acute conflict-induced refugee situation, and Rwanda, a protracted conflict-induced refugee setting. The study’s main goal was to better understand ways humanitarian organizations and health care providers might best support ethically and contextually appropriate palliative care in humanitarian contexts. An unintended outcome of the research was learning lessons about ethical dimensions of transnational research partnerships, which is the focus of this case analysis.

Discussion
There exist ongoing challenges for international collaborative research in humanitarian conflict-induced settings. Research partnerships were crucial for connecting with key stakeholders associated with the full study (e.g., refugees with life limiting illness, local healthcare providers, aid organization representatives). While important relationships were established, obstacles limited our abilities to fully attain the type of mutual partnership we aimed for. Unique challenges faced during the research included: (a) building, nurturing and sustaining respectful and equitable research partnerships between collaborators in contexts of cultural difference and global inequality; (b) appropriate ethics review and challenges of responding to local decision-maker’s research needs; and (c) equity and fairness towards vulnerable populations. Research strategies were adapted and applied to respond to these challenges with a specific focus on (d) research rewards and restitution.

Conclusions
This case analysis sheds light on the importance of understanding cultural norms in all research roles, building relationships with decision makers, and developing teams that include researchers from within humanitarian crisis settings to ensure that mutually beneficial research outcomes are ethical as well as culturally and contextually relevant.