bluuebunny/crossref_metadata_2025_split huggingface dataset:
Familial autosomal recessive bestrophinopathy: identification of a novel variant in BEST1 gene and the specific metabolomic profile
Authors: Ye Panpan , Xu Jia , Luo Yueqiu , Su Zhitao , Yao Ke 
Published: January 2020

Abstract
Background
Autosomal recessive bestrophinopathy (ARB) is a retinal degenerative disorder caused by BEST1 mutations with autosomal recessive inheritance. We aim to map a comprehensive genomic and metabolomic profile of a consanguineous Chinese family with ARB.

Methods
Ophthalmic examinations were performed on the affected patients with ARB. The proband was screened for potential causative mutations in a panel with 256 known retinal disease genes by using target capture sequencing. The related mutation was further validated and segregated in the family members by Sanger sequencing. In silico prediction tools were used for pathogenicity assessment. A UHPLC-MS/MS metabolomic analysis was performed to explore the disease-associated metabolic feature.

Results
The affected patients from this family were characterized by low vision, the presence of subretinal fluid, macular edema, and hyperopia with coincidental angle closure. DNA sequencing identified a novel missense mutation in the BEST1 gene c.646G > A (p.Val216Ile) of the proband. Sanger sequencing further confirmed the mutation. The missense mutation was co-segregation across the pedigree and predicted to be deleterious by SIFT (0.017). The blood metabolic profiles were highly similar among all family members probably because of the same lifestyle, habitat and genomic background. However, ARB patients presented a significant deregulation of metabolites, such as citric acid, L-Threonic acid, and eicosapentaenoic acid.

Conclusions
We identified a novel disease-associated variant in the BEST1 gene as well as a disease-specific metabolic feature in familial ARB. Our findings helped improve the understanding of ARB mechanisms.
Vaginal leiomyoma: medical imaging and diagnosis in a resource low tertiary hospital: case report
Authors: Egbe Thomas Obinchemti , Kobenge Fidelia Mbi , Metogo Junette Arlette Mbengono , Manka’a Wankie Emmanuella , Tolefac Paul N. , Belley-Priso Eugene 
Published: January 2020

AbstractBackgroundIn the literature under review there are about 300 reported cases of vaginal leiomyomas with none from Cameroon. We report a case of vaginal leiomyoma and highlight the diagnostic challenges faced at the Douala Referral Hospital (DRH), Cameroon.Case presentationA 36-year-old G3P3002 sexually active Cameroonian married woman reported dysuria, dyspareunia, cessation of sexual intercourse and offensive smelling vaginal discharge for 6 months and a 3-year history of a vaginal tumour; she was misdiagnosed despite ultrasonography and magnetic resonance imaging (MRI) but was corrected by an experienced radiologist. She underwent first look laparoscopy, surgical excision of the tumour through the vagina and histopathology analysis that confirmed leiomyoma.ConclusionPosterior location of vaginal leiomyomas found in this case is a rare occurrence. The diagnosis is based on careful examination and preoperative imaging (ultrasonography and MRI). However, the definitive diagnosis is usually made intra-operatively. We combined laparoscopic exploration of the internal genital organs and per vaginal excision of the vaginal leiomyoma. Thus, we recommend frozen section biopsy to exclude leiomyosarcoma.
“Navigation to prioritizing the patient” – first-line nurse managers’ experiences of participating in a quality improvement collaborative
Authors: Sjølie Berit Mosseng , Hartviksen Trude Anita , Bondas Terese 
Published: January 2020

Abstract
Background
First-line nurse managers are central to quality improvement work when changing work practices into better patient outcomes. Quality improvement collaboratives have been adopted widely to support quality management in healthcare services and shared learning. We have little knowledge of the first-line nurse managers’ own perspectives concerning their need for support and knowledge in quality improvement work. Therefore, the aim of this study was to gain understanding of first line nurse managers’ experiences in leading quality improvement work in their own organization when participating in a quality improvement collaborative.

Methods
An interpretive approach was chosen following Graneheim and Lundman’s qualitative content analysis. Data was collected through three focus group interviews with first-line nurse managers representing different workplaces: the local hospital, a nursing home, and a homecare service in a rural area of Norway.

Results
“Navigation to prioritizing the patient” emerged as an overarching metaphor to describe the first-line nurse managers experiences of leading quality improvement work, based on three themes: 1) fellowship for critical thinking and prioritizing the patient; 2) mastering the processes in quality improvement work; and 3) the everyday reality of leadership as a complex context.

Conclusions
A quality improvement collaborative encompassing knowledge transfer and reflection may create an important fellowship for health care leaders, encouraging and enabling quality improvement work in their own organization. It is crucial to invite all leaders from an organization to be able to share the experience and continue their collaboration with their staff in the organization. Continuity over time, following up elements of the quality improvement work at joint meetings, involvement by users, and self-development of and voluntary involvement in the quality improvement collaborative seem to be important for knowledge development in quality improvement. The supportive elements of the quality improvement collaborative fellowship were crucial to critical thinking and to the first-line nurse managers’ own development and security in mastering the quality improvement work processes. They preferred prioritizing the patients in quality improvement work, despite haste and obstructive situations in an everyday context.
Prevalence and characteristics of medication errors at an emergency department of a teaching hospital in Malaysia
Authors: Shitu Zayyanu , Aung Myat Moe Thwe , Tuan Kamauzaman Tuan Hairulnizam , Ab Rahman Ab Fatah 
Published: January 2020

Abstract
Background
Medication use process in the emergency department (ED) can be challenging and the risk for medication error (ME) to occur is high. In Malaysia, several studies on ME have been conducted in various hospital settings. However, little is known about the prevalence of ME in emergency department (ED) in these hospitals.
The objective of this study was to determine the prevalence and characteristics of ME at an ED of a teaching hospital in Malaysia.

Methods
A cross-sectional study was conducted over the period of 9 weeks in patients who visited the ED of Hospital Universiti Sains Malaysia (HUSM), Kelantan, Malaysia. Data on patient medication orders and demographic information was collected from the doctor’s clerking sheet. Observations were made on nursing activities and these were documented in the data collection form. Other information related to the administration of medications were obtained from the nursing care records.

Results
Observations and data collections were made for 547 patients who fulfilled the study criteria. From these, 311 patient data were randomly selected for analysis. Ninety-five patients had at least one ME. The prevalence of ME was calculated to be 30.5%. The most common types of ME were wrong time error (46.9%), unauthorized drug error (25.4%), omission error (18.5%) and dose error (9.2%). The most frequently drug associated with ME was analgesics. No adverse event was observed.

Conclusions
The prevalence of ME in our ED setting was moderately high. However, the majority of them did not result in any adverse event. Intervention measures are needed to prevent further occurrence.
Delayed haemolysis after treatment with intravenous artesunate in patients with severe malaria in India
Authors: Savargaonkar Deepali , Das Manoj Kumar , Verma Amar , Mitra Jeevan K. , Yadav C. P. , Srivastava Bina , Anvikar Anupkumar R. , Valecha Neena 
Published: January 2020

Abstract
Background
Parenteral artesunate is the treatment of choice for severe malaria. It is safe, efficacious and well tolerated anti-malarial. However, delayed haemolysis has been reported in travellers, non-immune individuals and in African children.

Methods
A prospective, observational study was carried out in admitted severe malaria patients receiving parenteral artesunate. The patients were followed up until day 28 for monitoring clinical as well as laboratory parameters for haemolytic anaemia.

Results
Twenty-four patients with severe malaria receiving injection artesunate were enrolled in the study. Post-artesunate delayed haemolysis following parenteral artesunate therapy was observed in three of 24 patients (12.5%, 95% confidence interval 4.5–31.2%). Haemolysis was observed in two more patients possibly due to other reasons. The haemoglobin fall ranged from 13.6 to 38.3% from day 7 to day 28 in these patients.

Conclusion
The possibility of delayed haemolysis should be considered while treating the severe malaria patients with parenteral artesunate. The study highlights the need for further studies in different epidemiological settings.
Impact of preoperative risk factors on outcome after gastrectomy
Authors: Eichelmann Ann-Kathrin , Saidi Meltem , Lindner Kirsten , Lenschow Christina , Palmes Daniel , Pascher Andreas , Hummel Richard 
Published: January 2020

Abstract
Background
Gastrectomy is associated with relevant postoperative morbidity. However, outcome of surgery can be improved by careful selection of patients. The objective of the current study was therefore to identify preoperative risk factors that might impact on patients’ further outcome after surgical resection.

Methods
Preoperative risk factors having respectively different surgical risk scores for major complex surgery (including Cologne Risk Score, p-/o-POSSUM, and NSQIP risk score) of patients that underwent gastrectomy for AEG II/III tumors and gastric cancer were correlated with complications according to Clavien-Dindo and outcome. Patients who underwent surgery in palliative intention were excluded from further analysis.

Results
Subtotal gastrectomy was performed in 23%, gastrectomy in 59%, and extended gastrectomy in 18% in a total of 139 patients (mean age: 64 years old). Thirty six percent experienced a minor complication (Dindo I-II) and 24% a major complication (Dindo III-V), which resulted in a prolonged hospital stay (p < 0.001). In-hospital mortality (=Dindo V) was 2.5%. Besides age, type of surgical procedure impacted on complications with extended gastrectomy showing the highest risk (p = 0.005). The o-POSSUM score failed to predict mortality accurately. We observed a highly positive correlation between predicted morbidity respectively mortality and occurrence of complications estimated by p-POSSUM (p = 0.005), Cologne Risk (p = 0.007), and NSQIP scores (p < 0.001).

Conclusion
The results demonstrate a significant association between different risk scores and occurrence of complications following gastrectomy. The p-POSSUM, Cologne Risk, and NSQIP score exhibited superior performance than the o-POSSUM score. Therefore, these scores might allow identification and selection of high-risk patients and thus might be highly useful for clinical decision making.
The Manila Declaration on Migration and Health: commentary of the Association of Pacific Rim Universities Global Health Program
Authors: Withers Mellissa , Wipfli Heather , Schenker Marc , Jahangir Tasfia , Herbosa Teodoro , Tigno Jorge 
Published: January 2020

Abstract
Background
Migration has played, and continues to play, an important role in shaping our global economy. As of 2017, there were 258 million international migrants worldwide, over 100 million of whom came from the Asia-Pacific region. Migration is increasingly recognized as a social determinant of health, as migrants often experience vulnerabilities that make them susceptible to a range of negative health outcomes. Addressing the health and human rights concerns of migrants requires concerted and global efforts from many stakeholders, including universities.

Methods
The Global Health Program of the Association of Pacific Rim Universities (APRU), a non-profit network of more than 50 universities in the region, is an example of an avenue to foster research, innovation, collaborative engagement, and large-scale advocacy around migration and health. In 2017, a special half-day workshop was held in Manila, convening 167 participants from 10 economies and 21 disciplines. The goal of the workshop was to delineate the role of universities in promoting migrant health and well-being. The global health experts from a diverse set of backgrounds collaboratively developed a policy statement to be used to better address migrant health and human rights. The objective of this paper is to disseminate the policy statement, highlighted specific action items that universities can take to protect and promote migrant health.

Results
The Manila Declaration on Migration and Health highlights that universities must ensure that their campuses are safe, supportive, and empowering environments for all migrants and their families. Universities are also urged to capitalize on their educational and research expertise to generate data on migrant experiences and communicate this research to policymakers.

Conclusions
This commentary highlights how institutions of higher education can serve as powerful avenues for promoting migrant health and human rights. Universities can play a vital role in building awareness and sensitivity to migrant challenges and needs, as well as helping to develop policy frameworks appropriate to their diverse contexts to guide, promote, and reinforce commitment to migrant rights and health. Universities should also ensure that their campuses are safe, supportive, and empowering environments for all migrants and their families.
Isolation and identification of alkaloids from Macleaya microcarpa by UHPLC–Q-TOF-MS and their cytotoxic activity in vitro, antiangiogenic activity in vivo
Authors: Sai Chunmei , Wang Jian’an , Li Binjie , Ding Lin , Wang Huiyun , Wang Qibao , Hua Huiming , Zhang Fangpeng , Ren Qiang 
Published: January 2020

Abstract
Background
Extensive bioactivities of alkaloids from the genus Macleaya (Macleaya cordata (Willd.) R. Br. and Macleaya microcarpa (Maxim.) Fedde) have been widely reported, as well as more and more concerned from the scientific communities. However, systematic research on the phytochemical information of M. microcarpa is incomplete. The aim of this study was to rapidly and conveniently qualitative analyze alkaloids from M. microcarpa by ultra-performance liquid chromatography/quadrupole-time-of-fight mass spectrometry (UHPLC–Q-TOF-MS) using accurate mass weight and characteristic fragment ions, furthermore separate and identify the main alkaloids, test antitumor activity in vitro and antiangiogenic activity in vivo.

Results
A total of 14 alkaloids from fruits of M. microcarpa were identified by UHPLC–Q-TOF-MS, including 5 protopines, 2 benzophenanthridines, 1 dimer, 1 dihydrobenzophenanthridines and 5 unknown structure compounds. Two major alkaloids were isolated by various column chromatographic methods. Their structures were determined by NMR data and related literatures. The two major alkaloids were evaluated for intro cytotoxic activities against HL-60, MCF-7, A-549, and in vivo antiangiogenic activity using transgenic zebrafish.

Conclusions
Current qualitative method based on UHPLC–Q-TOF-MS technique provided a scientific basis for isolation, structural identification, and in vitro or in vivo pharmacological further study of alkaloids from M. microcarpa in the future.
Development of Natural Compound Molecular Fingerprint (NC-MFP) with the Dictionary of Natural Products (DNP) for natural product-based drug development
Authors: Seo Myungwon , Shin Hyun Kil , Myung Yoochan , Hwang Sungbo , No Kyoung Tai 
Published: January 2020

AbstractComputer-aided research on the relationship between molecular structures of natural compounds (NC) and their biological activities have been carried out extensively because the molecular structures of new drug candidates are usually analogous to or derived from the molecular structures of NC. In order to express the relationship physically realistically using a computer, it is essential to have a molecular descriptor set that can adequately represent the characteristics of the molecular structures belonging to the NC’s chemical space. Although several topological descriptors have been developed to describe the physical, chemical, and biological properties of organic molecules, especially synthetic compounds, and have been widely used for drug discovery researches, these descriptors have limitations in expressing NC-specific molecular structures. To overcome this, we developed a novel molecular fingerprint, called Natural Compound Molecular Fingerprints (NC-MFP), for explaining NC structures related to biological activities and for applying the same for the natural product (NP)-based drug development. NC-MFP was developed to reflect the structural characteristics of NCs and the commonly used NP classification system. NC-MFP is a scaffold-based molecular fingerprint method comprising scaffolds, scaffold-fragment connection points (SFCP), and fragments. The scaffolds of the NC-MFP have a hierarchical structure. In this study, we introduce 16 structural classes of NPs in the Dictionary of Natural Product database (DNP), and the hierarchical scaffolds of each class were calculated using the Bemis and Murko (BM) method. The scaffold library in NC-MFP comprises 676 scaffolds. To compare how well the NC-MFP represents the structural features of NCs compared to the molecular fingerprints that have been widely used for organic molecular representation, two kinds of binary classification tasks were performed. Task I is a binary classification of the NCs in commercially available library DB into a NC or synthetic compound. Task II is classifying whether NCs with inhibitory activity in seven biological target proteins are active or inactive. Two tasks were developed with some molecular fingerprints, including NC-MFP, using the 1-nearest neighbor (1-NN) method. The performance of task I showed that NC-MFP is a practical molecular fingerprint to classify NC structures from the data set compared with other molecular fingerprints. Performance of task II with NC-MFP outperformed compared with other molecular fingerprints, suggesting that the NC-MFP is useful to explain NC structures related to biological activities. In conclusion, NC-MFP is a robust molecular fingerprint in classifying NC structures and explaining the biological activities of NC structures. Therefore, we suggest NC-MFP as a potent molecular descriptor of the virtual screening of NC for natural product-based drug development.
Entamoeba histolytica and amoebic liver abscess in northern Sri Lanka: a public health problem
Authors: Tharmaratnam Tharmegan , Kumanan Thirunavukarasu , Iskandar Mina Amin , D’Urzo Katrina , Gopee-Ramanan Prasaanthan , Loganathan Mayura , Tabobondung Tyler , Tabobondung Taylor Anthony , Sivagurunathan Seyon , Patel Mitul , Tobbia Iqdam 
Published: January 2020

AbstractEntamoeba histolytica (E. histolytica) is a facultative protozoan parasite implicated in amoebic liver abscesses (ALA), the most common extraintestinal manifestation of this infection. E. histolytica is endemic to sub-tropical and tropical countries and has been a major public health concern in northern Sri Lanka (SLK) for the last three decades. This has been attributed to a multitude of factors such as poor sanitation, hygiene, male sex, middle age, overcrowding, unsanitary practices in the production of indigenous alcoholic beverages, and alcohol consumption. Additionally, while rates of E. histolytica have declined substantially throughout the rest of the island, largely due to better infrastructure, it remains pervasive in the northern peninsula, which is generally less developed. Infection arises primarily from fecal-oral transmission through the consumption of contaminated drinking water containing cysts. Upon ingestion, cysts multiply into trophozoites and colonize the host colonic mucosa using lectin and cysteine proteases as virulence factors, leading to host invasion. Symptoms occur along a spectrum, from asymptomatology, to pyrexia, abdominal cramping, and amoebic dysentery. Colonization of the colon results in the formation of distinct flask-shaped ulcers along the epithelium, and eventual penetration of the lamina propria via the production of matrix metalloproteinases. ALA then develops through trophozoite migration via the mesenteric hepatic portal circulation, where microabscesses coalesce to form a single, large right-lobe abscess, commonly on the posterior aspect. The progression of infection to invasive disease is contingent on the unique interplay between host and pathogen factors, such as the strength of host-immunity to overcome infection and inherent pathogenicity of the Entamoeba species. As a preventable illness, E. histolytica complications such as ALA impose a significant burden on the healthcare system. This mini-review highlights epidemiological trends, risk factors, diagnostic modalities, treatment approaches, and opportunities for prevention of E. histolytica-induced ALA, to help address this endemic problem on the island of SLK.
Role of deformation imaging in left ventricular non-compaction and hypertrophic cardiomyopathy: an Indian perspective
Authors: Ashwal A. J. , Mugula Sudhakar Rao , Samanth Jyothi , Paramasivam Ganesh , Nayak Krishnananda , Padmakumar R. 
Published: January 2020

Abstract
Background
Speckle tracking echocardiography (STE) has emerged as a novel feasible tool for the assessment of left ventricular rotational parameters. Since hypertrophic cardiomyopathy(HCM) shares morphologic features with left ventricular non-compaction (LVNC), we used this imaging modality to compare rotational mechanics between these two entities.

Results
We compared global and regional LV function and rotational mechanics between LVNC, HCM, and healthy subjects using STE. Longitudinal strain and torsion were obtained from echocardiographic images from parasternal short axis as well as standard LV apical views. Twelve patients with LVNC [mean age 46.12 ± 14.66 years; median 47.5 IQR (39.25–58.5) years] were compared with 18 HCM patients [mean age 49.48± 17.22 years; median 56 IQR (33–65) years] and 18 healthy subjects [mean age: 51.50± 12.51 years; median 51(45.75-58) years]. LVNC group showed a significantly reduced longitudinal strain at the apical region compared to HCM group (− 12.18 ± 6.25 vs − 18.37 ± 3.67; P < 0.05). Rigid body rotation(RBR) was found in 50% of patients whereas the other half had a normal rotation at the apex and the base. Among the patients with RBR, all patients had a uniform counterclockwise rotation.

Conclusion
Longitudinal strain was impaired in both the forms of cardiomyopathy; however, LVNC showed a more significant reduction in the apical region compared to patients with HCM suggesting a development abnormality in these regions. A reduction in left ventricular torsion was specifically noted among patients with LVNC with a uniform anticlockwise rotation of LV base and apex.