bluuebunny/crossref_metadata_2025_split huggingface dataset:
A novel SPAST gene mutation identified in a Chinese family with hereditary spastic paraplegia
Authors: Yu Weiwei , Jin Haiqiang , Deng Jianwen , Nan Ding , Huang Yining 
Published: May 2020

Abstract
Background: Hereditary spastic paraplegia is a heterogeneous group of clinically and genetically neurodegenerative diseases characterized by progressive gait disorder. Hereditary spastic paraplegia can be inherited in various ways, and all modes of inheritance are associated with multiple genes or loci. At present, more than 76 disease-causing loci have been identified in hereditary spastic paraplegia patients. Here, we report a novel mutation in SPAST gene associated with hereditary spastic paraplegia in a Chinese family, further enriching the hereditary spastic paraplegia spectrum. Methods: Whole genomic DNA was extracted from peripheral blood of the 15 subjects from a Chinese family using DNA Isolation Kit. The Whole Exome Sequencing of the proband was analyzed and the result was identified in the rest individuals. RaptorX prediction tool and Protein Variation Effect Analyzer were used to predict the effects of the mutation on protein tertiary structure and function.Results: Spastic paraplegia has been inherited across at least four generations in this family, during which only four HSP patients were alive. The results obtained by analyzing the Whole Exome Sequencing of the proband exhibited a novel disease-associated in-frame deletion in the SPAST gene, and the this mutation also existed in the rest three HSP patients in this family. This in-frame deletion consists of three nucleotides deletion (c.1710_1712delGAA) within the exon 16, resulting in lysine deficiency at the position 570 of the protein (p.K570del). This novel mutation was also predicted to result in the synthesis of misfolded SPAST protein and have the deleterious effect on the function of SPAST protein.Conclusion: In this case, we reported a novel mutation in the known SPAST gene that segregated with HSP disease, which can be inherited in each generation. Simultaneously, this novel discovery significantly enriches the mutation spectrum, which provides an opportunity for further investigation of genetic pathogenesis of HSP.
Smartband use during enhanced recovery after surgery facilitates inpatient recuperation following minimally invasive colorectal surgery
Authors: Yin Tzu-Chieh , Huang Ching-Wen , Tsai Hsiang-Lin , Su Wei-Chih , Ma Cheng-Jen , Chang Tsung-Kun , Wang Jaw Yuan 
Published: May 2020

Abstract
BackgroundEnhanced recovery after surgery (ERAS) is valuable in perioperative care for its ability to improve short-term surgical outcomes and facilitate patient recuperation after major surgery. Early postoperative mobilization is a vital component of the integrated care pathway and is a factor strongly associated with successful outcomes. However, early mobilization still has various definitions and lacks specific strategies.MethodsPatients who underwent minimally invasive surgery for colorectal cancer followed our perioperative ERAS program, including mobilization from the first postoperative day. After perioperative care skills were improved in our well-established program, compliance, inpatient surgical outcomes, and complications associated with adding smartband use were evaluated and compared with the outcomes for standard protocol. Quality of recovery was evaluated using patient-rated QoR-40 questionnaires the day before surgery, on postoperative day 1 and 3, and on the day of discharge.ResultsSmartband use after minimally invasive colorectal surgery failed to increase compliance with early mobilization or reduce the occurrence of postoperative complications significantly compared with standard ERAS protocol. However, when smartbands were utilized, quality of recovery was optimized and patients returned to their preoperative status earlier, at postoperative day 3. The duration of theoretical hospital stays and hospital stays of uncomplicated patients wearing smartbands was also reduced by 1.1 and 0.9 days, respectively (P = 0.0091 and 0.049).ConclusionsSmartbands enable enhanced communication between patients and surgical teams and strengthen self-management in patients undergoing minimally invasive colorectal resection surgery. Accelerated recovery to preoperative functional status can be facilitated by integrating smartbands into the process of early mobilization during ERAS.
Evaluation of Modified CC Stabilization Using LARS Artificial Ligament in Unstable Distal Clavicle Fracture
Authors: Li Yongchuan , Lu Nan , Shen Di , Zhang Fan , Lu Jiajia , Chen Aimin 
Published: May 2020

Abstract
Background: Unstable distal clavicle fracture is common, and there is no consensus regarding the gold standard treatment. The purpose of this study was to report a new surgical technique for the treatment of unstable distal clavicle fracture with modified coracoclavicular (CC) stabilization using a ligament augmentation and reconstruction system (LARS) artificial ligament, and to evaluate the clinical and radiographic outcomes.Patients and methods: We retrospectively reviewed 18 patients with acute unstable distal clavicle fractures (type Ⅱb) treated between January 2009 and June 2018 with modified CC stabilization using LARS artificial ligament. Indexes for evaluation included fracture healing, quality of reduction, and presence of complications (e.g., infections, nerve injuries, iatrogenic clavicle or coracoid fracture, the fixation loop failure, or loss of reduction). Shoulder function was evaluated using the Constant-Murley score.Results: Patients were assessed at a mean time of 31.8 months follow-up. All 18 patients experienced radiographic union. Follow-up radiographs showed anatomical reduction in 15 patients and slight loss of reduction in 3 patients. There were 2 cases of calcification of the CC ligament, 1 case of degenerative change around the acromioclavicular (AC) joint, and 1 case of clavicular osteolysis around screws noted during the follow-up. At the final follow-up, Constant scores were 91.2 ± 6.9.Conclusions: Treating unstable distal clavicle fractures (type Ⅱb) with modified CC stabilization using LARS artificial ligament resulted in a high union rate, satisfactory fracture reduction, a low complication rate, and excellent shoulder function. We consider this simple surgical technique that naturally restores stability to the distal clavicle fracture is an efficient method for treating the fracture.
Associations between vitamin D status and diabetic complications in Chinese population with type 2 diabetes mellitus: a cross-sectional study
Authors: Xiao Ying , Wei Ling , Xiong Xiaofen , Yang Ming , Sun Lin 
Published: May 2020

Abstract
Background Vitamin D status has been linked to diabetes-related complications due to multiple extraskeletal effects. We aimed to investigate the association between vitamin D deficiency (VDD) and diabetic vascular complications, including diabetic retinopathy (DR), diabetic kidney disease (DKD), and diabetic foot ulcers (DFU).Methods A total of 4284 Chinese patients with type 2 diabetic mellitus (T2DM) were enrolled into the cross-sectional study. VDD was defined as serum 25-hydroxyvitamin D < 50 nmol/L. Demographic data, physical measurements, laboratory measurements, comorbidities, and related medications were collected and analyzed by VDD status. Poisson regression with robust variance estimation and binary logistic regression were performed to explore the relationship between VDD and diabetic complications.Results The prevalence of VDD, DR, DKD, DFU accounted to 71.7% (95% confidence intervals [CI]: 70.3%-73.0%), 28.5% (95% CI: 27.2%-29.9%), 28.2% (95% CI: 26.8%-29.5%) and 5.7% (95% CI: 5.1%-6.5%), respectively. The prevalence ratios (95% CI) for DR and DKD by VDD status, adjusted for demographics, physical measurements, laboratory measurements, related complications and comorbidities, and medications, were 1.093 (0.983–1.215) and 1.041 (0.937–1.156), respectively. The odds ratio (95% CI) for DFU by VDD status was 1.656 (1.159–2.367) in the final adjusted model. Meanwhile, the prevalence of VDD was significantly higher in patients with DFU compared with patients without DFU.Conclusions The present study firstly indicated that VDD was significantly associated with a higher prevalence of DFU among Chinese T2DM patients. The association between VDD status and DR or DKD was not significant when adjusting for all potential covariates. Vitamin D screening or supplementation may be beneficial to prevent diabetic complications and improve the prognosis of T2DM patients.
Serum Mycoplasma Pneumoniae IgG in COVID-19: A Protective Factor
Authors: Mi Bobin , Chen Lang , Panayi Adriana C. , Xiong Yuan , Liu Guohui 
Published: May 2020

Abstract
A correlation between prior exposure to Mycoplasma pneumoniae (IgG positive) and better clinical response to COVID-19 was elusive. In the present study, a retrospective review of 133 COVID-19 infected patients treated at Wuhan Union Hospital from Feb 1 to Mar 20 was carried out. Our data showed that COVID-19 infected patients with mycoplasma lgG positivity had a higher lymphocyte count and percentage (p = 0.026, p = 0.017), monocyte count and percentage (p = 0.028, p = 0.006) and eosinophil count and percentage (p = 0.039, p = 0.007), and a lower neutrophil count and percentage (p = 0.044, p = 0.006) than COVID-19 infected patients without mycoplasma lgG. Furthermore, requirement and use of a nasal catheter or oxygen mask was significantly lower in COVID-19 infected patients with mycoplasma lgG positivity (p = 0.029). Our findings indicate that mycoplasma IgG positivity is a potential protective factor for COVID-19.
Media Exposure to COVID-19 Information, Risk Perception, Social and Geographical Proximity, and Self-Rated Anxiety in China
Authors: Liu Miao , Zhang hongzhong , Huang Hui 
Published: May 2020

Abstract
Background
A novel coronavirus named COVID-19 is an emerging infectious disease confronting the world. The lack of effective antiviral drugs and vaccines, along with the relative high death rate and high contagiousness, has raised strong public concerns over COVID-19, especially for those people who live in the most severely affected areas. This study aims to clarifying the factors that influence anxiety level of Chinese people during the COVID-19 pandemic, with particular focus on exposure to different COVID-19 information in media.
Methods
4991 respondents were randomly recruited from a national online panel from February 12, 2020 to February 14, 2020, during which period of time the number of COVID-19 cases surpassed 10,000 in a single day and the total cases in China reached to 63940. Measures assessed respondents self-rated anxiety, media exposure of COVID-19 information, social and geographical proximity to COVID-19, and perceived risk.
Results
Media exposure to COVID-19 information was differently associated with anxiety. Anxiety was found to be high in respondents who personally know someone infected with COVID-19 or living in an area that has reported cases. Respondents perceived more risks also reported higher level of anxiety.
Conclusions
This study highlighted the role of media exposure in influencing individuals’ anxiety level during a global pandemic. Government and health professionals are recommended to adopt effective risk communication strategy to improve citizens’ mental health during the pandemic.
The Perspectives of Physicians Regarding Antidiabetic Therapy De-Intensification and Factors Affecting their Treatment Choices: A Cross-Sectional Study
Authors: Naser Abdallah Y , Alsairafi Zahra Khalil , Alwafi Hassan , Turkistani Fawaz Mohammad , Bokhari Nedaa Saud , Alenazi Badi , Dahmash Eman Zmaily , Alyami Hamad S. 
Published: May 2020

Abstract
Background: Comprehensive diabetes management includes an appropriate dietary plan, exercise, and antidiabetic medications. Nevertheless, the target glycaemic control is not always achieved using single antidiabetic, patients may need to start treatment intensification by increasing the dose of the single antidiabetic agent or by the administration of antidiabetic combination therapy. However, it has been shown that intensive antidiabetic therapy should be used carefully as it is associated with an increased risk of adverse events and death. The aim of this study is to understand physicians’ perspectives regarding treatment de-intensification and factors affecting their treatment choice for patients with type 2 diabetes mellitus.Methods: A cross-sectional study was conducted in governmental specialised primary and secondary care units in Saudi Arabia using online questionnaire. Two previously validated questionnaires were used to understand physicians’ awareness of, agreement with, and their practices of individualising HbA1c goals and antidiabetic treatment de-intensification, and to assess factors affecting physicians’ treatment choice when prescribing antidiabetic treatment for patients with type 2 diabetes mellitus. Study population were physicians who are treating patients with diabetes mellitus during the period between October 2018 and May 2019.Results: A total of 205 physicians have participated in the study. Approximately 50% of physicians had family medicine speciality (n = 98, 47.8%). The majority of physicians (n = 183, 89.3%) were familiar with the concept of HbA1c goals individualisation. However, only 66.3% of them (n = 136) reported that they apply it either always or most of the time. 58.5% (n = 120) of physicians reported that they would not initiate conversations about de-intensifying antidiabetic therapy even if their patients had a stable HbA1c values for one year. Physicians showed higher consideration to objective patient clinical data and their assessment of patient’s health status, with minor consideration to patient-related factors.Conclusions: Healthcare professionals should focus more on implementing contemporary practices and applying any necessary treatment de-intensification. Subjective patient factors should be taken into account, as these factors are associated with better disease management.
Ought to the Changes within the Immunophenotype of Solid Cell Nests (SCNs) and Follicular Cells in Hashimoto’s Thyroiditis be Considered as Premalignant Lesions?
Authors: Dung Tran Ngoc , Tuyen Nguyen Khac , Tien Truong Dinh , Thinh Pham Van , Do Nhu Binh , Van Nguyen Khanh , Hung Nguyen Manh , Linh Nguyen Thuy 
Published: May 2020

Abstract
Background: Papillary thyroid carcinoma (PTC) is more frequently reported in patients with Hashimoto’s thyroiditis (HT), which may be associated with the presence of solid cell nests (SCNs) and focal PTC-like nuclear alterations in the thyroid gland. The point of this consideration was to assess the morphological and immunohistochemical features of SCNs and follicular epithelial changes in Vietnamese patients with HT.Materials and methods: Hematoxylin – Eosin and immunohistochemistry were performed on 20 samples of HT patients who underwent thyroidectomy and were diagnosed with Hashimoto's thyroiditis at Military Medical Hospital 103 from 6/2018 to 6/2019. The expression of five markers (P63, Calcitonin, TTF1, CK19, and HBME-1) to be up-regulated in SCNs and follicular epithelial changes were evaluated.Results: 90% of samples had SCNs with an average of 10 SCNs per section. Only type 1 and type 4 of SCNs were presented (85% and 55%, respectively) and all SCNs were composed of main cells (p63-positive). 15 of 18 cases having SCNs possessed nuclear features of PTC. C-cell hyperplasia was found in one case with 20 clusters. All SCNs showed strong staining with CK19 and weak staining with HBME-1. Follicular epithelial changes were Hürthle cell metaplasia, PTC-like nuclear alterations, atypical solid nodules, papillary and glomerular-like forms (40%, 100%, 25%, and 50%, respectively). Follicular cells of glomerular-like forms (new alteration) especially were positive with CK19 (2 + ~ 3+), HBME-1 (1+), and TTF1, while the components in these follicles were negative with CK19, HBME-1, and TTF1. Among PTC-like nuclear alterations, all of the atypical solid nodules related to HT showed markers related to PTC and without SCNs.Conclusions: Increasing the number of SCNs, as well as PTC-like nuclear alterations of main cells in SCNs and follicular epithelial changes, which were co-expressed CK19 and HBME-1, may suggest precancerous changes in Hashimoto's thyroiditis.
Shear Damage Suppression Model of Magnesium Alloy Plates
Authors: Huang Zhiquan , Yang Guowei , Qi Chuanlu , Wang Rongjun , Shuai Meirong 
Published: May 2020

Abstract
By shearing Q235 steel, aluminum, and AZ31 magnesium alloy at room temperature, the shear area of Q235 steel and aluminum is found to be relatively flat whereas that of AZ31 magnesium alloy exhibits many defects, such as potholes and cracks. The influence of temperature and strain rate on the critical fracture strain of AZ31 magnesium alloy was obtained using isothermal compression experiment. Results show that high temperature and larger strain lead to large and small critical fracture strains. Therefore, based on the isothermal compression experiment and the effects of temperature and strain rate on the critical fracture strain of AZ31 magnesium alloy, the magnesium alloy plate is heated to 100, 200, 300, and 400 °C, and shearing was conducted after 30 min of heat preservation. Based on the cross-sectional shape and the degree of damage, the optimum shear temperature ranges from 160 °C to 260 °C. At this temperature, the sheared magnesium alloy plate not only obtains an improved cross-sectional shape but also has a small shear corner area. Simultaneously, the shearing basic process model of Q235 steel plate is also obtained based on the industrial test. Furthermore, the shearing basic process model of AZ31 magnesium alloy was acquired based on the elongation ratio of magnesium alloy and Q235 steel under the same process conditions.
Description of Emergency Medical Services, treatment of cardiac arrest patients and cardiac arrest registries in Europe
Authors: Tjelmeland Ingvild Beathe Myrhaugen , Masterson Siobhan , Herlitz Johan , Wnent Jan , Bossaert Leo , Ortiz Fernando Rosell , Alm-Kruse Kristin , Bein Berthold , Lilja Gisela , Gräsner Jan-Thorsten 
Published: May 2020

Abstract
Background Variation in the incidence, survival rate and factors associated with survival after cardiac arrest in Europe is reported. Some studies have tried to fill the knowledge gap regarding the epidemiology of out-of-hospital cardiac arrest in Europe but were unable to identify reasons for the reported differences. Therefore, the purpose of this study was to describe European Emergency Medical Systems, particularly from the perspective of country and ambulance service characteristics, cardiac arrest identification, dispatch, treatment, and monitoring. Methods An online questionnaire with 51 questions about ambulance and dispatch characteristics, on-scene management of cardiac arrest and the availability and dataset in cardiac arrest registries, was sent to all national coordinators who participated in the European Registry of Cardiac Arrest studies. In addition, individual invitations were sent to the remaining European countries. Results Participants from 28 European countries responded to the questionnaire. Results were combined with official information on population density. Overall, the number of Emergency Medical Service missions, level of training of personnel, availability of Helicopter Emergency Medical Services and the involvement of first responders varied across and within countries. There were similarities in team training, availability of key resuscitation equipment and permission for ongoing performance of cardiopulmonary resuscitation during transported. The quality of reporting to cardiac arrest registries varied, as well as the data availability in the registries. Conclusions Throughout Europe there are important differences in Emergency Medical Service systems and the response to out-of-hospital cardiac arrest. Explaining these differences is complicated due to significant variation in how variables are reported to and used in registries.
Pre-hospital blood transfusion – a survey on European practice
Authors: Thies Karl-Christian , Truhlář Anatolij , Keene Damian , Hinkelbein Jochen , Rützler Kurt , Brazzi Luca , Vivien Benoît 
Published: May 2020

Abstract
Background Blood products are a lifesaving commodity in the treatment of major trauma. Although there is little evidence for use of pre-hospital blood products (PHBP) in seriously injured patients, an increasing number of emergency medical services have started using PHBP for treatment of major haemorrhage. Aim of this survey was to establish the degree of prehospital blood product use throughout Europe and discover main indications. The second aim was to evaluate opinions about PHBP and also the experience and the personal views of its users. Methods The subcommittee for Critical Emergency Medicine of the European Society of Anaesthesiology (ESA) held an online survey of European Helicopter Emergency Services (HEMS) and all French Services d’Aide Médicale Urgente (SAMU) regions. It contained 13 questions both open and multiple-choice about the frequency transfusions are carried out, the PHBP used and the perceived benefit. The survey was distributed to the corresponding HEMS leads in 14 European countries. Results In total there were 172 valid responses; overall 48% of all respondents have prehospital access to packed red cells, 22% to fresh plasma and 14% use lyophilised plasma. Besides blood product administration, 94% of all services use tranexamic acid. Sixty five percent of all replies came from French and from German services (37% and 28% respectively). PHBP were mainly used for trauma related emergencies. France has the highest uptake of use of blood products at 89%, whereas the rate in Germany was far lower at 6%. Fifty five percent of the service leads felt that PHBP are beneficial, and even lifesaving in individual cases despite being needed infrequently. Conclusions We found remarkable dissimilarities in practice between the different European countries. Even if there is not an absolute consensus amongst providers on the benefit of PHBP, the majority feel they are beneficial. The difference in practice is possibly related to the perceived lack of evidence on prehospital blood transfusion. We suggest to include the use of PHBP in trauma registries in order to consolidate the existing evidence.