bluuebunny/crossref_metadata_2025_split huggingface dataset:
Clinical and Genetic Characteristics of Hypophosphatasia in Chinese Children
Authors: Liu Meijuan , Liu Min , Liang Xuejun , Wu Di , Li Wenjing , Su Chang , Cao Bingyan , Chen Jiajia , Gong Chunxiu 
Published: November 2020

Abstract
Background: Hypophosphatasia (HPP) is a rare inherited disorder, which is caused by loss-of-function mutations in the ALPL gene. HPP is a heterogeneous disease that has a wide spectrum of phenotypes. Few studies were carried out in the Chinese population with HPP, especially in children. Methods: The clinical and genetic characteristics of 10 Chinese children with HPP who were referred to the Beijing Children’s Hospital were described. We also reviewed previously reported HPP cases of children in China.Results: A total of 33 cases were identified, which included 2 perinatal lethal, 10 infantile, 10 childhood, and 11 odonto types of HPP. The male to female ratio was 24:9. The average age at onset was 0.69 years (ranged from 2 hours after birth to 14 years), while the average age at clinical diagnosis was 3.87 years (ranged from 2 hours after birth to 19 years). Serum alkaline phosphatase (ALP) levels were significantly decreased in patients with severe forms of HPP (perinatal lethal/infantile HPP) when compared with those with the mild forms of HPP (childhood/odonto HPP, P<0.01). Although serum phosphate levels were not significantly different (P>0.05), serum calcium levels were elevated, and serum intact parathyroid hormone (i-PTH) levels were decreased in patients with severe forms of HPP in comparison with those with the mild forms of HPP (P all <0.01). Genetic analyses identified 40 mutations in 31 HPP cases, including 28 missense mutations, 9 frameshift mutations, 2 splice junction alterations, and 1 regulatory mutation. Of which, 5 novel mutations were identified in our present study: 2 frameshift mutation (p.Arg138GlyfsTer27, p.Leu511Profs*272); 2 missense mutations (p.Ala176Val, p.Phe268Leu), and 1 splice junction alterations (c.297+5G>A). Compound heterozygous mutations accounted for 89.29% of all variants. No mutational “hot-spot” was found. Most mutations of ALPL were located in exons 5, 7, 10 and 3. Notably, subjects that carrying single heterozygous mutations showed milder phenotypes of HPP, while subjects with nonsense mutations were associated with a severe phenotype.Conclusions: HPP is a rare disease with often delayed diagnosis, and the incidence of HPP in China may be seriously underestimated. The present study expands the phenotypic and genotypic spectrum and our understanding of HPP in Chinese children.These findings will be useful for clinical assessment and shorten the diagnostics of pediatric HPP in China.
Comparing neoadjuvant long-course chemoradiotherapy with short-course radiotherapy in rectal cancer
Authors: Wang Jian , Long Yiwen , Liu Kun , Pei Qian , Zhu Hong 
Published: November 2020

Abstract
Background:The purpose of this study was to compare short-course radiotherapy (SC) or neoadjuvant long-course chemoradiotherapy (LC) treatment for locally advanced rectal cancer patients.Methods:Patients with a diagnosis of locally advanced rectal cancer (LARC) who had undergone neoadjuvant radiotherapy before surgery between 2013 and 2018 at the medical center in China were included in this study. All patients’ MRI confirmed T2N+M0 or T3-4N0-3M0 clinical stages. Patients in the SC group received pelvic radiotherapy with a dose of 5×5 Gy (with or without chemotherapy at any time), followed by immediate or delayed surgery. Patients in the LC group received a dose of 50-50.4 Gy in 25-28 fractions, concomitantly with FOLFOX or capecitabine-based chemotherapy, followed by surgery 4-6 weeks later. All clinical data were retrospectively collected, and long-term follow-up was completed and recorded at the same time.Results:A total of 170 were eligible to participate in this study, 32 patients in the SC group, and 138 in the LC group. The median follow-up time of living patients was 39 months. The disease-free survival (DFS) and overall survival (OS) rates in the SC group and LC group at 3 years, were, 84.9% versus 72.4% (P= 0.273) and 96.2% versus 87.2% (P= 0.510), respectively. The complete pathological response (pCR) rates in the SC group and LC group were, 25% versus 18.1% (the difference was not statistically significant, P=0.375), respectively. However, the SC group had better node(N) downstaging compared to the LC group (P=0.011).Conclusions:There were no differences observed in DFS and OS between short-course radiotherapy and long-course chemoradiation, and both can be used as treatment options for patients with locally advanced rectal cancer.
Experimental and Numerical Investigation on the Thermal and Mechanical Behaviours of Thermal Barrier coatings Exposed to CMAS Corrosion
Authors: Li Dongxu , Jiang Peng , Gao Renheng , Sun Fan , Jin Xiaochao , Fan Xueling 
Published: November 2020

Abstract
Calcium-magnesium-alumino-silicate (CMAS) corrosion is one of the most critical failure mechanisms of thermal barrier coating (TBC). CMAS attack significantly alters the temperature and stress fields in TBCs, resulting in their delamination or spallation. In this work, the dynamic evolution process of suspension plasma sprayed (SPS) TBC under CMAS attack is investigated. The CMAS corrosion leads to the formation of reaction layer and subsequent bending of TBC. Based on the observations, a corrosion model is proposed to describe the generation and evolution of the reaction layer and bending of TBC. Then, numerical simulations are performed to investigate the corrosion process of free-standing TBC and the complete TBC system under CMAS attack, respectively. Results show that the CMAS corrosion has a significant influence on the stress field, such as the peak stress, while it has little influence on the steady state temperature field. It should be noted that the peak of stress increases with holding time which increases the risk of the rupture of TBC. There is a parabolic relationship between the stress and reaction layer thickness in the holding stage. Furthermore, in the traditional failure zone, such as the interface of top coat and bond coat, the stress obviously change during CMAS corrosion.
Perianal and Perineal Rhabdomyosarcomas - A Retrospective Multicenter Study of 35 Cases
Authors: Guo Yaoyu , Hu Bang , Huang Dandan , Wang Xinhua , Li Juan , Zhang Di , Li Xueying , Chen Gong , Ren Donglin 
Published: November 2020

Abstract
BackgroundPerianal/perineal rhabdomyosarcoma (PRMS) is rare, easy to be misdiagnosed and has poor prognosis. This study was designed to analyze the clinical, diagnostic, pathological and prognostic features of PRMS, and to explore its therapeutic modality.MethodsClinical data of PRMS patients in the Sixth Affiliated Hospital and the Cancer Center of Sun Yat-sen University and related Chinese literatures published between 1987 and 2018 were described and analyzed. Chi-square test was used to test the differences between groups. The Kaplan-Meier methods were used to estimate and compare survival rates.Results35 patients, 20 identified in the Chinese literatures and 15 of our center from 1997 to 2019, were included in this study. 34 cases presented as perianal mass and one presented as inguinal mass. 20 patients complained about pain and 16 cases were misdiagnosed as perianal abscess, in which pain was found related to misdiagnosis (p＜0.05). The average time from symptoms to pathological diagnosis was 3.1 months. 13 cases were categorized into IRS group III/IV and 20 cases into stages 3/4. 14 Cases were diagnosed as embryonal rhabdomyosarcoma pathologically and 9 as alveolar rhabdomyosarcoma. Five patients survived for more than two years, three of them survived for more than five years. The overall survival rates of two years and five years were 32% and 24% respectively, in which misdiagnosis contributes to poor prognosis (p＜0.05). MRI showed that PRMS was closely related to external anal sphincter in 10 cases. Conclusion﻿PRMS is easy to be misdiagnosed, which could lead to worse outcome. Patients with painful perianal mass should be evaluated to exclude PRMS. MRI shows PRMS is closely related to external anal sphincter. Comprehensive therapy including radical operation and chemotherapy is recommended.
Reconstructing Surface Eruptive Sequence of 2018 Small Phreatic Eruption of Iwo-Yama Volcano, Kirishima Volcanic Complex, Japan by Infrasound Cross-correlation Analysis
Authors: Muramatsu Dan , Matsushima Takeshi , Ichihara Mie 
Published: November 2020

Abstract
The Iwo-yama volcano of the Kirishima Volcanic Complex in Japan had a small phreatic eruption in April 2018, which formed multiple vents. The activity was recorded by two infrasound sensors and two monitoring cameras which had been installed within 1 km of the vents. This study identified infrasonic signals from the multiple vents by a cross-correlation analysis between the two infrasound sensors. The analysis successfully revealed the signals from two main eruption craters and constrained the infrasound onsets at the individual vents in the two craters. We combined the results with the images from the cameras and reconstructed the sequence of the small phreatic eruption of Iwo-yama. Notably, the intense eruption accompanying remarkable infrasound delayed several hours to the eruption onset at each of the two craters. This study provides a sequence of the activities of the multiple vents in a phreatic eruption, which will be useful for understanding the phreatic eruption mechanism and hazard assessments.
Longitudinal MRI&nbsp;Study After Carbon Ion and Photon Irradiation: Shorter Latency Time for Myelopathy is Not Associated With Differential Morphological Changes
Authors: Welzel Thomas , Bendinger Alina Leandra , Glowa Christin , Babushkina Inna , Jugold Manfred , Peschke Peter , Debus Jürgen , Karger Christian P. , Saager Maria 
Published: November 2020

Abstract
Background Radiation-induced myelopathy is a severe and irreversible complication that occurs after a long symptom-free latency time if the spinal cord was exposed to a significant irradiation dose during tumor treatment. As carbon ions are increasingly investigated for tumor treatment in clinical trials, their effect on normal tissue needs further investigation to assure safety of patient treatments. Magnetic resonance imaging (MRI)-visible morphological alterations could serve as predictive markers for medicinal interventions to avoid severe side effects. Thus, MRI-visible morphological alterations in the rat spinal cord after high dose photon and carbon ion irradiation and their latency times were investigated.MethodsRats whose spinal cords were irradiated with iso-effective high photon (n = 8) or carbon ion (n = 8) doses as well as sham-treated control animals (n=6) underwent frequent MRI measurements until they developed radiation-induced myelopathy (paresis II). MR images were analyzed for morphological alterations and animals were regularly tested for neurological deficits. In addition, histological analysis was performed of animals suffering from paresis II compared to controls.ResultsFor both beam modalities, first morphological alterations occurred outside the spinal cord (bone marrow conversion, contrast agent accumulation in the musculature ventral and dorsal to the spinal cord) followed by morphological alterations inside the spinal cord (edema, syrinx, contrast agent accumulation) and eventually neurological alterations (paresis I and II). Latency times were significantly shorter after carbon ions as compared to photon irradiation.Conclusions Irradiation of the rat spinal cord with photon or carbon ion doses that lead to 100% myelopathy induced a comparable fixed sequence of MRI-visible morphological alterations and neurological distortions. However, at least in the animal model used in this study, the observed MRI-visible morphological alterations in the spinal cord are not suited as predictive markers to identify animals that will develop myelopathy as the time between MRI-visible alterations and the occurrence of myelopathy is too short to intervene with protective or mitigative drugs.
Recurrent outbreaks of Ebola Virus Disease in Africa: A Meta-analysis of case fatality rates
Authors: Kawuki Joseph , Musa Taha Hussein , Yu Xiaojin 
Published: November 2020

Abstract
Background: In the last decade, Africa has witnessed several outbreaks of Ebola virus disease (EVD), each presenting with varying case fatality rate (CFR) and other socio-economic impacts. This study aims to summarise the CFR and identify potential factors that influenced the severity of EVD outbreaks in Africa.Methods: This was a systematic review and meta-analysis of EVD outbreaks published between January 2010 and March 2020, using Web of Science, Scopus and PubMed databases. Only English articles and reports, including the number of cases and deaths during the outbreak in Africa, were considered. Quality of the included articles was assessed using the Murad’s quality assessment tool. The analysis was conducted using Stata (version 12), pooled effect sizes were calculated using the random-effects model and heterogeneity was tested for using the I2 statistic.Result: Thirteen studies with 32,300 cases and 13,727 deaths were identified whose pooled CFR was 60% (95% CI: 47-73%). The most EVD-affected countries were DRC with 5 outbreaks and a pooled CFR of 65% (95% CI: 59-71%), followed by Uganda with 3 outbreaks and CFR= 83% (95% CI: 60-99%). Zaire ebolavirus caused the most outbreaks (10), with a CFR= 58% (95% CI: 45-71%). Besides, outbreaks with less than 1000 cases reported a higher CFR rate compared to those with more cases.Conclusion: The study has revealed a considerably high CFR caused by the recurrent EVD outbreaks in Africa. It also notes an implementation gap of the prevention and control strategies, and thus identifies a need to strengthen the surveillance systems and response mechanisms to enable early detection and prompt control of future outbreaks.
Laboratory Predictors for COVID-19 ICU Admissions in a Caribbean Territory.
Authors: Gopaul Chavin , Ventour Dale , Thomas Davlin 
Published: November 2020

Abstract
Introduction. Understanding the symptoms associated with COVID-19 cases that require intensive care unit (ICU) attention is important in management of the life threatening case of the disease. Method : This study was carried out with the aim of determining the laboratory indicators of ICU admission. Data from 126 COVID-19 patients (ICU patients, n = 18, Non-ICU, n = 98) were analyzed from a Caribbean Territory.Results: The median age for the non-ICU patients was 59.0 (IQR = 23.5) years while the ICU patients had a median age of 62.5 (IQR = 17.5). The univariate analysis indicted that laboratory indicators that were significantly associated with ICU admission included WBC (P = 0.037), lymphocyte (P = 0.016), LDH (P = 0.002), AST (P = 0.005) and CRP (P = 0.0001). However, multivariate analysis that included WBC, neutrophil, lymphocyte, PLT, AST, LDH, ALT, and CRP indicated that only AST was associated with high odds of patients being admitted to ICU (OR .002, 95% CI 0.000-.004, P = 0.017). Statistically significant area under the curve (AUC) were obtained for Neutrophil (AUC = 0.704, P = 0.007), CRP (AUC = 0.81, p= 0.00) and LDH (AUC=0.766, P= 0.00) and AST (AUC= 0.729, P= 0.003). Conclusion: The findings indicate that neutrophils, AST and LDH’s ROC curves are good tests while CRP curve is a very good test. However, lymphocyte curve is a poor test for determining COVID-19 patient for ICU admission. Neutrophil, AST, LDH and CRP are suitable predictors of COVID-19 patients that should receive ICU care
Distribution of sources of household air pollution: a cross-sectional study in Cameroon
Authors: Baame Esong Miranda , Goura André Pascal , Mbatchou Bertrand Hugo Ngahane , Walage Berenice , Simo Herman Styve Yomi , Medjou Romarique Mboumo , Sonkoue Martial Pianta , Djouda Cyrielle Douanla , Ngnewa Rose Suzie Fowoh , Guiagain Milaine Sandra Teugueu , Agokeng Brice-Donald Kemnang , Homla Olivia Tania Megaptche , Pope Dan , Ateudjieu Jerome 
Published: November 2020

Abstract
Background: Household air pollution (HAP) is a recognised risk factor for many diseases, including respiratory diseases, cardiovascular/circulatory disorders, adverse pregnancy outcomes and cataracts. Population exposure to biomass fuels, including wood, varies among countries and from one fuel source to the other. This study aimed to investigate the different sources of HAP in peri-urban and rural communities in Cameroon. Methods: A cross-sectional survey was conducted in a representative sample of households from the Dschang Health District (DHD) region. This included 848 homes in which a range of fuels for cooking including biomass (firewood, charcoal, sawdust), kerosene and liquefied petroleum gas (LPG) were used both indoors and outdoors. Results: Of the study households, 651 (77%) reported exclusive use of firewood and 141 (17%) reported using more than one source of fuel. Exclusive use of firewood was greater in rural communities (94%) than in peri-urban communities (38%). In peri-urban communites, use of multiple fuels including LPG, wood, sawdust and kerosene, was more common (44.75%). A total of 25.03% of households in both peri-urban and rural communities reported using bottled gas (or liquified petroleum gas (LPG) for cooking. Motivations for choice of fuel included, price, availability (easy access), rapidity, tradition or culture related factorsConclusion: Wood is the main cooking fuel in both peri-urban and rural communities in the Dschang Health District. Work to help households (especially those who are resource poor) to adopt LPG equipment for cooking, and use in a more exclusive way is required.
Development of a Multivariable Prediction Model to Identify Patients Unlikely to Complete a Colonoscopy Following an Abnormal FIT Test in Community Clinics
Authors: Petrik Amanda , Keast Erin , Johnson Eric , Smith David H. , Coronado Gloria D. 
Published: November 2020

Abstract
Background: Colorectal cancer (CRC) is the 2 nd leading cancer killer in the US. The Strategies and Opportunities to STOP Colon Cancer in Priority Populations (STOP CRC) project aimed to increase CRC screening among patients in Federally Qualified Health Centers (FQHCs) through a mailed fecal immunochemical test (FIT) outreach program. However, rates of completion of the follow-up colonoscopy following an abnormal FIT remain low. We developed a multivariable prediction model using data available in the electronic health record to assess the probability of patients obtaining a colonoscopy following an abnormal FIT test.
Methods: To assess the probability of obtaining a colonoscopy, we used Cox regression to develop a risk prediction model among a retrospective cohort of patients with an abnormal FIT result.
Results: Of 1596 patients with an abnormal FIT result, 556 (34.8%) had a recorded colonoscopy within 6 months. The model shows adequate separation of patients across risk levels for non-adherence to follow-up colonoscopy (bootstrap-corrected C-statistic > 0.63). The refined model included 8 variables: age, race, insurance, GINI income inequality, long term anticoagulant use, receipt of a flu vaccine in the past year, frequency of missed clinic appointments, and clinic site. Probability of obtaining a follow-up colonoscopy within 6 months varied across quintiles; patients in the lowest quintile had an estimated 18% chance, whereas patients in the top quintile had a greater than 55% chance of obtaining a follow-up colonoscopy.
Conclusions: Knowing who is unlikely to follow-up on an abnormal FIT test could help identify patients who need an early intervention aimed at completing a follow-up colonoscopy.
Trial registry: This trial was registered at ClinicalTrials.gov (NCT01742065) on December 5, 2012. The protocol is available.
High Resolution Computed Tomography Finding in 552 Patients with Symptomatic COVID-19: First Report from North of Iran
Authors: Majidi Hadi , Bani-Mostafavi Elham-Sadat , Mardanshahi Zahra , Godazandeh Farnaz , Gasemian Roya , Heydari Keyvan , Alizadeh-Navaei Reza 
Published: November 2020

Abstract
Purpose: Due to the emergence of the new Coronavirus-2019 and the lack of sufficient information about infected patients, this study was conducted to investigate the Chest High Resolution Computed Tomography (HRCT) findings of patients infected with the new Coronavirus 2019.Methods: This cross-sectional study was performed on COVID-19 patients referred to Medical Imaging Centers of Sari, Mazandaran, Iran, on March 2020 for Computed Tomography Scan (CT-Scan). Symptomatic patients were referred to the Medical Imaging Center for diagnosis confirmation through CT-scan. In addition to age and sex, HRCT findings were collected from the picture archiving and communication system (PACS) for further evaluations.Results: Out of 552 patients with mean age of 14.8 ± 51.2 years, the male/female ratio was 1.38 to 1. The most common expressive findings in patients were ground-glass opacity (GGO) (87.3%), peripheral distribution (82.4%) and posterior distribution (81.5%). The most conflicting findings in patients were pleural effusion (7.6%), peribronchovascular distribution (7.6%), and lymphadenopathy (5.1%). The peripheral distribution (p = 0.034), round opacities (p = 0.02), single lobe (p = 0.003) and pleural effusion (p = 0.037) were significantly in people under and over 50 years of age.Conclusion: In summary, the present study indicated that in addition to GGO, peripheral distribution findings could be a vital diagnostic choice in COVID-19 patients.
A preoperative mortality risk assessment model for Standford type A acute aortic dissection
Authors: Kuang Juntao , Yang Jue , Wang Qiuji , Yu Changjiang , Li Ying , Fan Ruixin 
Published: November 2020

Abstract
OBJECTIVES Acute aortic dissection type A is a life-threatening disease required emergency surgery during acute phase. Different clinical manifestations, laboratory tests, and imaging features of patients with acute aortic dissection type A are the risk factors of preoperative mortality. This study aims to establish a simple and effective preoperative mortality risk assessment model for patients with acute aortic dissection type A.METHODS A total of 673 Chinese patients with acute aortic dissection type A who were admitted to our hospital were retrospectively included. All patients were unable to receive surgically treatment within 3 days from the onset of disease. The patients included were divided into the survivor and deceased groups, and the endpoint event was preoperative death. Multivariable analysis was used to investigate predictors of preoperative mortality and to develop a prediction model.RESULTS Among the 673 patients, 527 patients survived (78.31%) and 146 patients died (21.69%). The developmental dataset had 505 patients, calibration by Hosmer Lemeshow was significant (χ2 = 3.260, df = 8, P = 0.917) and discrimination by area under ROC curve was 0.8,448 (95% CI, 0.8,007-0.8,888). The validation dataset had 168 patients, calibration was significant (χ2 = 5.500, df = 8, P = 0.703) and the area under the ROC curve was 0.8,086 (95% CI, 0.7,291-0.8,881). The following independent variables increased preoperative mortality: age (OR = 1.008, P = 0.510), abrupt chest pain (OR = 3.534, P < 0.001), lactic in arterial blood gas ≥ 3 mmol/L (OR = 3.636, P < 0.001), inotropic support (OR = 8.615, P < 0.001), electrocardiographic myocardial ischemia (OR = 3.300, P = 0.001), innominate artery involvement (OR = 1.625, P = 0.104), right common carotid artery involvement (OR = 3.487, P = 0.001), superior mesenteric artery involvement (OR = 2.651, P = 0.001), false lumen / true lumen of ascending aorta ≥ 0.75 (OR = 2.221, P = 0.007) . Our data suggest that a simple and effective preoperative death risk assessment model has been established.CONCLUSIONS Using a simple and effective risk assessment model can help clinicians quickly identify high-risk patients and make appropriate medical decisions.