bluuebunny/crossref_metadata_2025_split huggingface dataset:
A rare mutation c.1663G&gt;A (p.A555T) in the MMUT gene associated with mild clinical and biochemical phenotypes of methylmalonic acidemia in 30 Chinese patients
Authors: Liang Lili , Shuai Ruixue , Yu Yue , Qiu Wenjuan , Shen Linghua , Wu Shengnan , Wei Haiyan , Chen Yongxing , Yang Chiju , Xu Peng , Chen Xigui , Zou Hui , Feng Jizhen , Niu Tingting , Hu Haili , Ye Jun , Zhang Huiwen , Lu Deyun , Gong Zhuwen , Zhan Xia , Ji Wenjun , Yu Yongguo , Gu Xuefan , Han Lianshu 
Published: August 2020

Abstract
Background: Methylmalonic acidemia is an inherited organic acid metabolic disease. it involves multiple physiological systems and has variable manifestations. The primary causative gene MMUT carries wide range of mutations, and one of them, c.1663G>A (p.A555T), is considered to be of an extremely rare type. So far, little is known about the clinical features of patients carrying this mutation. In the present study, we aimed to define the clinical and biochemical features of the patients with this genotype. Methods: Among 328 mut type methylmalonic acidemia patients from multiple hospitals in China, we collected 30 compound heterozygous patients sharing the mutation c.1663G>A (p.A555T) in the MMUT gene. Their clinical characteristics and biochemical index were described in detail and compared with methylmalonic acidemia patients without this variant. Results: Most of these patients were diagnosed via newborn screening (26/30), treated in a timely manner, and kept healthy (24/30). Disease onset occurred in 7 patients. Developmental delay or intellectual impairment occurred in 4 patients. Vitamin B12 is responsive in 100% of these patients (29/29). The blood propionylcarnitine, blood propionylcarnitine/acetylcarnitine ratio, urinary methylmalonic acid, urinary methylcitric acid before and after treatment in c.1663G>A (p.A555T) carrying patients were much lower than those in non-c.1663G>A (p.A555T) carrying patients. Conclusion: Compared to patients with other mutations in the MMUT gene, patients with the c.1663G>A (p.A555T) mutation showed later onset, milder clinical phenotype, lighter biochemical abnormalities, better vitamin B12 responsiveness, lower morbidity, easier metabolic control, and thereby better prognosis. Newborn screening project plays an important role in early diagnosis, treatment, and prognosis of these patients.
Extensively drug-resistant Alcaligenes faecalis infection
Authors: Huang Chienhsiu 
Published: August 2020

Abstract
Background: Alcaligenes faecalis is usually opportunistic infection in humans. Alcaligenes faecalis infection is often challenging to treat due to its increased resistance to many antibiotics. The results from a clinical study of Alcaligenes faecalis infection may help improve patients’ clinical care. Methods: We conducted a retrospective analysis of all patients presenting with Alcaligenes faecalis infection from January 2014 through December 2019. The medical records of all patients were reviewed for demographic information, clinical symptoms and signs, comorbidities, use of intravenous antibiotics within the past 3 months, bacterial culture, antibiotics sensitivity test, and clinical outcomes. Results: Sixty-one cases of Alcaligenes faecalis infection were seen during the study period, including 25 cases of cystitis, 9 cases of diabetic foot ulcer with infection, 8 cases of pneumonia, 7 cases of acute pyelonephritis, 3 cases of bacteremia, 9 cases of infection at specific sites. Thirty-seven patients (60.7%) had a history of receiving intravenous antibiotics within 3 months of the diagnosis. Fifty-one (83.6%) cases were mixed with other bacterial infections. Extensively drug-resistant infections have been reported since 2018. The best sensitivity rate to A. faecalis was 66.7% for three antibiotics (imipenem, meropenem, and ceftazidime) in 2019. Two antibiotics (ciprofloxacin and piperacillin/tazobactam) sensitivity rates to A. faecalis were less than 50%. Conclusions: The most frequent Alcaligenes faecalis infection sites were in the bloodstream, urinary tract, skin and soft tissue, and middle ear. Alcaligenes faecalis showed markedly decreased sensitivity to commonly used antibiotics and, more recently, extensively drug-resistant Alcaligenes faecalis infections have emerged.
Clinical and biochemical indexes of 11 COVID-19 patients and the genome sequence analysis of the tested SARS-CoV-2
Authors: Yu Zhikang , Wu Heming , Huang Qingyan , Guo Xuemin , Zhong Zhixiong 
Published: August 2020

Abstract
BackgroundAt present, SARS-CoV-2 epidemic in the world rapidly spread. It is a serious global public health emergency.MethodsHere we described the clinical characteristics of 11 SARS-CoV-2 infected patients hospitalized in the Meizhou People's Hospital. And viral genome sequences of SARS-CoV-2 from these patients were analyzed.ResultsOf the 11 patients, six cases developed fever, nine cases developed cough, and two cases developed headache and chills. Four patients (36.4%) had underlying diseases. Pneumonia is the most common complication. The laboratory test results showed that there was no adult patients with increased LYM/LYM%. Most patients had normal total protein (TP) and albumin (ALB), but only two patients had decreased. Most patients had increased or normal levels of erythrocyte sedimentation rate (ESR), C reactive protein (CRP), activated partial thromboplastin time (APTT), fibrinogen (FIB), creatine kinase isoenzymes (CK-MB), and lactate dehydrogenase (LDH). Neutrophil (NEU) (r=0.664, P=0.026), CK-MB (r=0.655, P=0.029), blood urea nitrogen (BUN) (r=0.682, P=0.021) and SARS-CoV-2 virus cycle threshold (Ct) value were significantly correlated. Multiple sequence alignment (MSA) shows that we identified two different SNPs at positions 8781 and 28144, and have a completely linked genetic form of 8781C-28144T and 8781T-28144C.ConclusionsThe reports of these 11 cases in our hospital will provide useful information for the diagnosis, treatment and drug development of SARS-CoV-2.
Partnering with General Practitioners to Optimize Survivorship for Patients with Lymphoma: A phase II Randomized Controlled Trial (The GOSPEL 1 Trial)
Authors: Chan Raymond , Buhagiar Stephanie , Teleni Laisa , Simonsen Camilla , Turner Jane , Jones Lee , Gordon Louisa , Joseph Ria , Agbejule Oluwaseyifunmi Andi , Henderson Fiona , Rhee Joel , Mapp Sally 
Published: August 2020

Abstract
Background: Survival rates for lymphoma are highest amongst hematological malignancies. In 2019, it was estimated that over 6,400 Australians were diagnosed with lymphoma, a group of hematological malignancies with a high 5-year survival rate of ~76%. There is an increased focus on the promotion of wellness in survivorship and active approaches to reducing morbidity related to treatment; however, current models of follow-up care heavily rely on hospital-based specialist-led care.Maximizing the potential of general practitioners (GPs) in the ongoing management of cancer is consistent with the national health reform principles, and the Cancer Council Australia’s Optimal Care Pathways. GPs are well positioned to provide guideline-based follow-up care and are more likely to address comorbidities, psychosocial issues and promote healthy lifestyle behaviors. This study aims to test the feasibility of the GOSPEL 1 intervention for implementing an integrated, shared-care model in which cancer center specialists and community-based GPs collaborate to provide survivorship care for patients with lymphoma.Methods: We describe a protocol for a phase II, randomized controlled trial with two parallel arms and a 1:1 allocation. Sixty patients with Hodgkin’s and Non-Hodgkin’s lymphoma will be randomized to usual specialist-led follow-up care (as determined by the treating hematologists) or a shared follow-up care intervention (i.e., GOSPEL 1). GOSPEL 1 is a nurse-enabled, pre-specified shared-care pathway with follow-up responsibilities shared between cancer center specialists (i.e., hematologists and specialist cancer nurses) and GPs. Outcome measures assess feasibility as well as a range of patient reported outcomes including health-related quality of life as measured by the Functional Assessment of Cancer Therapy – Lymphoma, patient experience of care, symptom distress, comorbidity burden, dietary intake, physical activity behaviors, financial distress/interference and satisfaction of care. Safety indicators including hospital admission and unscheduled lymphoma clinic visits as well as process outcomes such as intervention fidelity and economic indicators will be analyzed.Discussion: This trial is designed to explore the feasibility and acceptability of a new model of shared-care for lymphoma survivors. Patient reported outcomes as well as potential barriers to implementation will be also analyzed to inform a larger definitive clinical trial testing the effects of a shared-care model on health-related quality of life of lymphoma survivors.Trial registration: Australia and New Zealand Clinical Trials Registry, Registration number: ACTRN12620000594921, Date registered: 22/05/2020, registration link: https://www.anzctr.org.au/ACTRN12620000594921.aspx
Perception and attitude of healthcare workers in Saudi Arabia with regard to Covid-19 pandemic and potential associated predictors
Authors: Abolfotouh Mostafa A. , Almutairi Adel F. , BaniMustafa Ala'a A. , Hussein Mohamed A. 
Published: August 2020

Abstract
Background . Healthcare workers (HCWs) face considerable mental and physical stress caring for patients with Covid-19. They are at higher risk of acquiring and transmitting this virus. Perception and attitude of HCWs in Saudi Arabia regarding Covid-19 were evaluated in comparison with MERS outbreak.

Methods. In a cross-sectional study, HCWs at three tertiary hospitals in Saudi Arabia were surveyed via email, by a concern scale about Covid-19 pandemic during 15-30 April, 2020. Concerns of disease severity, governmental efforts to contain it and disease outcomes were assessed using 32 concern-statements in five distinct domains. Multiple regression analyses were used to identify predictors of high concern scores.

Results. A total of 844 HCW responded to the survey. Their average age was 40.4±9.5 years, 40.3% were nurses, 58.2% had direct patient contact, and 77.3% were living with family members and/or others. The majority of participants (72.1%) had an overall concern score of 55 or less out of a maximum score of 96 points. Three-fourth of respondents felt at risk of contracting Covid-19 infection at work, 69.1% felt threatened if a colleague contracted Covid-19, 69.9% felt obliged to care for patients infected with Covid-19 while 27.7% did not feel safe at work using the standard precautions. Nearly all HCWs believed that the government should isolate patients with Covid-19 in specialized hospitals (92.9%), agreed with travel restriction to/from areas affected by Covid-19 (94.7%) and felt safe government implemented curfew and movement restriction periods (93.6%). Predictors of high concern scores were; HCWs of Saudi nationality (p<0.001), younger age (p=0.003), undergraduate education (p=0.044), living with others (p=0.003) working in the western region (p=0.003) and direct contact with patients (p=0.018). In comparison with MERS outbreak, HCWs reported significantly higher mean scores about Covid-19 pandemic for overall concern (45.9 versus 40.3, p<0.001).

Conclusions. The current study highlights the high concern among HCWs about Covid-19 and identifies the predictors of those with highest concern levels. To minimize the potential negative impact of those concerns on the performance of HCWs during pandemics, measures are necessary to enhance their protection and to minimize the psychological effect of the perceived risk of infection.
Analysis of ACE2 Genetic Variants in 131 Italian SARS-CoV-2 Positive Patients
Authors: Novelli Antonio , Biancolella Michela , Borgiani Paola , Cocciadiferro Dario , Colona Vito Luigi , D’Apice Maria Rosaria , Rogliani Paola , Zaffina Salvatore , Leonardis Francesca , Campana Andrea , Raponi Massimiliano , Andreoni Massimo , Grelli Sandro , Novelli Giuseppe 
Published: August 2020

Abstract
Background: Coronaviruses (CoV) are a large family of viruses that are common in humans and many animal species. Animal coronaviruses rarely infect humans with the exceptions of the Middle East Respiratory Syndrome (MERS-CoV), the Severe Acute Respiratory Syndrome CoronaVirus (SARS-CoV), and now SARS-CoV-2, which is the cause of the ongoing pandemic of coronavirus disease 2019 (COVID-19). Several studies suggested that genetic variants in the ACE2 gene may influence the host susceptibility or resistance to SARS-CoV-2 infection according to the functional role of ACE2 in human pathophysiology. However, many of these studies have been conducted in silico based on epidemiological and population data. We therefore investigated the occurrence of ACE2 variants in a cohort of 131 Italian unrelated individuals clinically diagnosed with COVID-19 and in an Italian control population, to evaluate a possible allelic association with COVID-19, by direct DNA analysis.Methods: As a pilot study, we analyzed, by whole-exome sequencing, genetic variants of ACE2 gene in 131 DNA samples of COVID-19 patients hospitalized at Tor Vergata University Hospital and at Bambino Gesù Children’s Hospital, Rome. We used a large control group consisting of 1,000 individuals (500 males and 500 females).Results: We identified three different germline variants: one intronic c.439+4G>A and two missense c.1888G>C p.(Asp630His) and c.2158A>G p.(Asn720Asp) in a total of 131 patients with a similar frequency in male and female. Thus far, only the c.1888G>C p.(Asp630His) variant shows a statistically different frequency compared to the ethnically matched populations. Therefore, further studies are needed in larger cohorts, since it was found only in one heterozygous COVID-19 patient.Conclusions: Our results suggest that there is no strong evidence, in our cohort, of consistent association of ACE2 variants with COVID-19 severity. We might speculate that rare susceptibility/resistant alleles could be located in the non-coding regions of the ACE2 gene, known to play a role in regulation of the gene activity.
Minimally invasive plate osteosynthesis (MIPO) versus open reduction and internal fixation (ORIF) in the treatment of distal fibula Danis-Weber type B and C fractures
Authors: Marazzi Cesare , Wittauer Matthias , Hirschmann Michael T. , Testa Enrique A. 
Published: August 2020

Abstract
Background Minimally invasive plate-osteosynthesis (MIPO) has been reported to be superior to open reduction and internal fixation (ORIF) in the treatment of different long bone fractures. Nevertheless, in distal fibula fractures the evidence of MIPO remains scarce. The aim of this retrospective study was to compare the clinical and radiological outcomes of the minimally invasive techniques applied to the distal fibula with open reduction and internal fixation within a 12 months follow-up.Methods A consecutive series of patients who underwent surgery using either ORIF or MIPO for the treatment of distal fibula fractures between 2010 and 2014 were retrospectively analysed. All distal fibular fractures requiring an operative treatment (Danis-Weber type B ≙ AO type 44 B1, 2, 3 and Danis-Weber type C ≙ AO type 44 C1, 2) were included (ORIF n=35, MIPO n=35). Patients were assessed for postoperative pain using a visual analogue scale (VAS) for pain (ranging from 0 to 10) and classified into 4 groups; “no pain” for VAS=0, “low” for VAS=1-3, “moderate” for VAS=3-5 and “severe” for VAS=5-10. In addition, complications of postoperative fracture-related infection, wound healing disorders, vascular and nerve injury as well as development of nonunion, were evaluated and analyzed. Radiologic outcome measures assessing the talocrural angle, lateral and medial clear space, tibiofibular overlap and talar tilt angle were evaluated postoperatively. Results The overall complication rate showed to be lower in the MIPO group compared to the ORIF group (14% vs. 37%, p=0.029). Even though not statistically significant, specific surgery related complications such as skin necrosis (3% vs. 9%, p= 0.275), nonunion (0% vs. 6%, p=0.139), infections and wound healing disorders (9% vs. 20%, p=0.141) as well as postoperative pain (17% vs. 26%, p=0.5) were found more frequently in the ORIF group. The tibiofibular overlap demonstrated to be significantly lower in the ORIF group (3.3mm vs. 2.7mm, p=0.033). The talocrural angle, talar tilt angle, lateral and medial clear space showed to be equivalent in both groups.Conclusion In this retrospective single-center consecutive series MIPO was superior to ORIF in the surgical treatment of distal fibula fractures with respect to the overall complication rate.
Does Tailor Different Educational Programs for Different Groups Might Improve Acceptance by Nursing Staff?
Authors: Chiao Li-Hua , Wu Chiu-Feng , Tzeng I-Shiang , Teng An-Na , Liao Ru-Wen , Yu Li Ying , Huang Chin Min , Pan Wei-Han , Chen Chu-Yueh , Su Tsai-Tsu 
Published: August 2020

Abstract
Background: Long-term shortages in the nursing workforce and high turnover rates are common in Taiwan medical industry. Little research has investigated the psychological factors associated with retention of nursing staff. However, in practice, religious hospitals often provide education in medicine or the medical humanities to enhance psychological satisfaction. The objective of this study was to explore factors influencing nursing staff’s retention with their work across different levels of demand. A further objective was to investigate whether medical humanities educations were associated with the retention of nursing staff. Methods: This study used self-administrated questionnaires to survey nurses working in northern areas of Taiwan. The questionnaire design was based on the six levels of Maslow's hierarchy of needs. Participation was voluntary and participants signed informed consent documents. Self-administrated questionnaires were administered by contacting a total of 759 participants; 729 questionnaires were returned (response rate 96.04 %). A logistic regression analysis was used to estimate the impact of seniority of nursing work on nurses reported intention to stay after adjusting for nurse characteristics (gender and age).Results: In the Pearson correlation analysis, nurses’ willingness to stay was moderately correlated with “physical needs”, “safety needs”, “love and belonging needs”, and “esteem needs” (r=0.559, P<0.001; r=0.533, P<0.001; r=0.393, P<0.001; r=0.476, P<0.001, respectively). Furthermore, nurses’ willingness to stay was highly correlated with “self-actualization needs”, “behind self-actualization needs” and “medical humanities education relevant” (r=0.707, P<0.001; r=0.728, P<0.001; r=0.678, P<0.001, respectively). We found that the odds ratio (OR) of retention of nursing staff who worked within 1 year (OR=4.511, P=0.002) and 1-3 years (OR=3.248, P=0.003) was significantly higher referred to those who worked 5-10 years.Conclusions: With regard to medical humanities education, we recommend adjusting the training as the compulsory activities under the official programs are inadequate and adjusting the required hours of medical humanities education. Tailoring different educational programs for different groups (especially for the groups of nurses who have worked 3-5 years and 5-10 years in the case study hospital) might improve acceptance by nursing staff.
The Impact of COVID-19 on Chronic Care: A Qualitative Study Among Primary Care Practices in Belgium
Authors: Danhieux Katrien , Buffel Veerle , Pairon Anthony , Benkheil Asma , Remmen Roy , Wouters Edwin , Olmen Josefien Van 
Published: August 2020

Abstract
Background. The COVID-19 pandemic affects the processes of routine care for chronic patients. A better understanding helps to increase resilience of the health system and prepare adequately for a second wave or flare-ups of the pandemic.Methods. A qualitative study was conducted in 16 primary care practices: 6 solo working, 4 monodisciplinary and 7 multidisciplinary. 21 people (doctors, nurses, dieticians) were interviewed, using semi-structured video interviews. A thematic analysis was done using the domains of the Chronic Care Model (CCM).Results. Three themes emerged: changes in health care organization, risk stratification and self-management support. All participating practices reported drastic changes in organization with a collective shift towards COVID-19 care, and reduction of chronic care activities, less consultations, and staff responsible for self-management support put on hold. A transition to digital support did not occur. Few practitioners had a systematic approach to identify and contact high-risk patients for early follow-up. A practice with a pre-established structured team collaboration managed to continue most chronic care elements. Generally, practitioners expected no effects of the temporary disruption for patients, although they expressed concern about patients already poorly regulated.Conclusion: Our findings show the delivery of chronic care as disrupted. It indicates that the establishment of the CCM can facilitate continuity of care in crisis times. Short term actions should be directed to facilitate identifying high-risk patients and to develop a practice organization plan to organize chronic care and use digital channels for support, especially to vulnerable patients, during a second wave or in flare-ups.
Effectiveness of technology-enhanced teaching and assessment methods of undergraduate preclinical dental skills: a systematic review of randomized controlled clinical trials
Authors: Khalaf Khaled , El-Kishawi Mohamed , Mustafa Shahd , Kawas Sausan Al 
Published: August 2020

Abstract
Background: To investigate the effectiveness of technology-enhanced teaching and assessment methods of undergraduate preclinical skills in comparison to conventional methods. Methods: A comprehensive search strategy was implemented using both manual and electronic search methods, including PubMed, Wiley, ScienceDirect, SCOPUS, and the Cochrane Central Register of Controlled Trials. The search and selection of articles that met the inclusion criteria were carried out in duplicates. A Cochrane data extraction form for RCTs was used to extract the relevant information from all included articles. Risk of bias of all included articles was assessed independently by two authors using the Cochrane risk of bias tool. Results: A total of 19 randomized controlled clinical trials met the inclusion criteria and were included in this review. The majority of the studies included in this review have a high risk of bias mainly due to incomplete data, lack of blinding of the examiners, and due to other biases, such as small sample sizes, not accounting for additional hours of training, and the lack of calibration of examiners grading the preparations. Conflicting results were reported in the included studies with regards to whether there were differences between the intervention and control groups in the outcome measure of quality of students’ performance. A meta-analysis could not be done for this study due to the heterogeneity among the included studies.Conclusions: Technology-enhanced teaching and assessment tools used in preclinical skills training of undergraduate dental students have the potential to improve students’ performance. However, due to the conflicting outcomes reported in the 19 studies included in this systematic review and their high risk of bias, better quality studies are required to find a definitive answer to the research question of this systematic review.