bluuebunny/crossref_metadata_2025_split huggingface dataset:
Two novel variants in DYRK1B causative of AOMS3: expanding the clinical spectrum
Authors: Mendoza-Caamal Elvia C. , Barajas-Olmos Francisco , Mirzaeicheshmeh Elaheh , Ilizaliturri-Flores Ian , Aguilar-Salinas Carlos A. , Gómez-Velasco Donaji V. , Cicerón-Arellano Isabel , Reséndiz-Rodríguez Adriana , Martínez-Hernández Angélica , Contreras-Cubas Cecilia , Islas-Andrade Sergio , Zerrweck Carlos , García-Ortiz Humberto , Orozco Lorena 
Published: June 2021

Abstract
Background
We investigated pathogenic DYRK1B variants causative of abdominal obesity-metabolic syndrome 3 (AOMS3) in a group of patients originally diagnosed with type 2 diabetes. All DYRK1B exons were analyzed in a sample of 509 unrelated adults with type 2 diabetes and 459 controls, all belonging to the DMS1 SIGMA-cohort (ExAC). We performed in silico analysis on missense variants using Variant Effect Predictor software. To evaluate co-segregation, predicted pathogenic variants were genotyped in other family members. We performed molecular dynamics analysis for the co-segregating variants.

Results
After filtering, Mendelian genotypes were confirmed in two probands bearing two novel variants, p.Arg252His and p.Lys68Gln. Both variants co-segregated with the AOMS3 phenotype in classic dominant autosomal inheritance with full penetrance. In silico analysis revealed impairment of the DYRK1B protein function by both variants. For the first time, we describe age-dependent variable expressivity of this entity, with central obesity and insulin resistance apparent in childhood; morbid obesity, severe hypertriglyceridemia, and labile type 2 diabetes appearing before 40 years of age; and hypertension emerging in the fifth decade of life. We also report the two youngest individuals suffering from AOMS3.

Conclusions
Monogenic forms of metabolic diseases could be misdiagnosed and should be suspected in families with several affected members and early-onset metabolic phenotypes that are difficult to control. Early diagnostic strategies and medical interventions, even before symptoms or complications appear, could be useful.
Mortality beyond emergency threshold in a silent crisis– results from a population-based mortality survey in Ouaka prefecture, Central African Republic, 2020
Authors: Robinson Eve , Lee Lawrence , Roberts Leslie F. , Poelhekke Aurelie , Charles Xavier , Ouabo Adelaide , Vyncke Jorieke , Ariti Cono , Gbanzi Mariette Claudia Adame , Ouakouma Martial Tanguy , Gray Nell , Daly Maura , White Kate , Templeman Sam , Hejdenberg Mia , Hersevoort Maaike , Pena Sibyl Jade , Kuehne Anna 
Published: June 2021

Abstract
Background
The Central African Republic (CAR) suffers a protracted conflict and has the second lowest human development index in the world. Available mortality estimates vary and differ in methodology. We undertook a retrospective mortality study in the Ouaka prefecture to obtain reliable mortality data.

Methods
We conducted a population-based two-stage cluster survey from 9 March to 9 April, 2020 in Ouaka prefecture. We aimed to include 64 clusters of 12 households for a required sample size of 3636 persons. We assigned clusters to communes proportional to population size and then used systematic random sampling to identify cluster starting points from a dataset of buildings in each commune. In addition to the mortality survey questions, we included an open question on challenges faced by the household.

Results
We completed 50 clusters with 591 participating households including 4000 household members on the interview day. The median household size was 7 (interquartile range (IQR): 4—9). The median age was 12 (IQR: 5—27). The birth rate was 59.0/1000 population (95% confidence interval (95%-CI): 51.7—67.4).
The crude and under-five mortality rates (CMR & U5MR) were 1.33 (95%-CI: 1.09—1.61) and 1.87 (95%-CI: 1.37–2.54) deaths/10,000 persons/day, respectively. The most common specified causes of death were malaria/fever (16.0%; 95%-CI: 11.0–22.7), violence (13.2%; 95%-CI: 6.3–25.5), diarrhoea/vomiting (10.6%; 95%-CI: 6.2–17.5), and respiratory infections (8.4%; 95%-CI: 4.6–14.8). The maternal mortality ratio (MMR) was 2525/100,000 live births (95%-CI: 825—5794). Challenges reported by households included health problems and access to healthcare, high number of deaths, lack of potable water, insufficient means of subsistence, food insecurity and violence.

Conclusions
The CMR, U5MR and MMR exceed previous estimates, and the CMR exceeds the humanitarian emergency threshold. Violence is a major threat to life, and to physical and mental wellbeing. Other causes of death speak to poor living conditions and poor access to healthcare and preventive measures, corroborated by the challenges reported by households. Many areas of CAR face similar challenges to Ouaka. If these results were generalisable across CAR, the country would suffer one of the highest mortality rates in the world, a reminder that the longstanding “silent crisis” continues.
T-cell receptor-based therapy: an innovative therapeutic approach for solid tumors
Authors: Tsimberidou Apostolia-Maria , Van Morris Karlyle , Vo Henry Hiep , Eck Stephen , Lin Yu-Feng , Rivas Jorge Mauricio , Andersson Borje S. 
Published: June 2021

AbstractT-cell receptor (TCR)-based adoptive therapy employs genetically modified lymphocytes that are directed against specific tumor markers. This therapeutic modality requires a structured and integrated process that involves patient screening (e.g., for HLA-A*02:01 and specific tumor targets), leukapheresis, generation of transduced TCR product, lymphodepletion, and infusion of the TCR-based adoptive therapy. In this review, we summarize the current technology and early clinical development of TCR-based therapy in patients with solid tumors. The challenges of TCR-based therapy include those associated with TCR product manufacturing, patient selection, and preparation with lymphodepletion. Overcoming these challenges, and those posed by the immunosuppressive microenvironment, as well as developing next-generation strategies is essential to improving the efficacy and safety of TCR-based therapies. Optimization of technology to generate TCR product, treatment administration, and patient monitoring for adverse events is needed. The implementation of novel TCR strategies will require expansion of the TCR approach to patients with HLA haplotypes beyond HLA-A*02:01 and the discovery of novel tumor markers that are expressed in more patients and tumor types. Ongoing clinical trials will determine the ultimate role of TCR-based therapy in patients with solid tumors.
The effects of home confinement on pediatric fractures during the COVID 19 outbreak
Authors: Li Jun , Yuan Xiaowei , Cao Yinqiang , Liu Tao , Gou Pan , Li Xiang , Li Ming , Liu Xing 
Published: June 2021

Abstract
Objective
To control the transmission of coronavirus disease 2019 (COVID-19), the Chinese government encouraged people to stay at home. This study aimed to evaluate the effects of home confinement on the occurrence of fractures among children.

Study design
We retrospectively reviewed children admitted to Children’s Hospital of Chongqing Medical University, for traumatic injury from January 24 to March 10, 2020, and the same time period in 2017, 2018 and 2019. At the same time, children with fracture were screened out and the date for the past 4 years was compared in terms of etiology, location of fracture, sex and age to evaluate the effects of home confinement on the epidemiology of pediatric fractures during the COVID-19 outbreak.

Results
There were 6066 fractures in5,346 patients in 2017–2019, and 1034 fractures in 862 patients in 2020; the number of patients in all years reached a peak at the age of 2 to 4 years. The patients were slightly younger in 2020 than in 2017–2019 (t = 9.953, 95% CI: 0.846–1.262), and the proportion of boys in 2017–2019 is higher than in 2020 (X2 = 6.944, P = 0.008). Home confinement and traffic restriction resulted in a reduction in traffic accidents-associated fractures among children (X2 = 16.399, P < 0.001).

Conclusion
Home confinement lead to the significant reduction in the number of pediatric fractures, especially in male children, but the number of patients under 4 years old was still considerable, and the proportion of younger patients even increased. Therefore, the perspective of children should not be relaxed during home isolation.
Predictors of congenital anomalies among newborns in Arsi zone public hospitals, Southeast Ethiopia: a case-control study
Authors: Jemal Sudi , Fentahun Engidaw , Oumer Mohammed , Muche Abebe 
Published: June 2021

AbstractBackgroundCongenital anomaly is a partial or complete structural and/or functional defect during intrauterine life. Globally, major congenital anomalies account for 6% of all newborns among which about 94% of cases occurred in developing countries. In spite of its public health importance, very limited studies are reported in Ethiopia, and hardly any study in Arsi Zone.ObjectivesTo determine the predictors of congenital anomalies among newborns in Arsi Zone Public Hospitals, Southeast Ethiopia.MethodsA multi-center institutional-based case-control study was conducted in 418 (105 cases and 313 controls) of newborns in Arsi Zone Public Hospitals. Descriptive analysis, binary and multivariable logistic regressions were implemented.ResultsIn this study, women who have been drinking alcohol during pregnancy were 3.48 times more prone to have newborns with congenital anomalies than their counterparts (AOR = 3.48; 95% CI: 1.38, 8.74). The likelihood of having a newborn with congenital anomalies was six and four times higher for women who had a maternal illness (AOR = 6.10; 95%CI: 2.39, 15.57) and chewing khat during pregnancy (AOR = 4; 95%CI: 1.49, 10.65), respectively. Moreover, the lack of folic acid supplementation and pesticides during pregnancy were 3.25 and 4.76 times more likely to experience a newborn with congenital anomalies, respectively.ConclusionAlcohol drinking, maternal illness, khat chewing, and chemical exposure during pregnancy had a significant association with the occurrence of congenital anomalies. While, taking folic acid supplements had a protective effect. Health experts and the community should take these factors into consideration and act accordingly.
B-line quantification: comparing learners novice to lung ultrasound assisted by machine artificial intelligence technology to expert review
Authors: Russell Frances M. , Ehrman Robert R. , Barton Allen , Sarmiento Elisa , Ottenhoff Jakob E. , Nti Benjamin K. 
Published: June 2021

Abstract
Background
The goal of this study was to assess the ability of machine artificial intelligence (AI) to quantitatively assess lung ultrasound (LUS) B-line presence using images obtained by learners novice to LUS in patients with acute heart failure (AHF), compared to expert interpretation.

Methods
This was a prospective, multicenter observational study conducted at two urban academic institutions. Learners novice to LUS completed a 30-min training session on lung image acquisition which included lecture and hands-on patient scanning. Learners independently acquired images on patients with suspected AHF. Automatic B-line quantification was obtained offline after completion of the study. Machine AI counted the maximum number of B-lines visualized during a clip. The criterion standard for B-line counts was semi-quantitative analysis by a blinded point-of-care LUS expert reviewer. Image quality was blindly determined by an expert reviewer. A second expert reviewer blindly determined B-line counts and image quality. Intraclass correlation was used to determine agreement between machine AI and expert, and expert to expert.

Results
Fifty-one novice learners completed 87 scans on 29 patients. We analyzed data from 611 lung zones. The overall intraclass correlation for agreement between novice learner images post-processed with AI technology and expert review was 0.56 (confidence interval [CI] 0.51–0.62), and 0.82 (CI 0.73–0.91) between experts. Median image quality was 4 (on a 5-point scale), and correlation between experts for quality assessment was 0.65 (CI 0.48–0.82).

Conclusion
After a short training session, novice learners were able to obtain high-quality images. When the AI deep learning algorithm was applied to those images, it quantified B-lines with moderate-to-fair correlation as compared to semi-quantitative analysis by expert review. This data shows promise, but further development is needed before widespread clinical use.
Lung ultrasound training and evaluation for proficiency among physicians in a low-resource setting
Authors: House Darlene R. , Amatya Yogendra , Nti Benjamin , Russell Frances M. 
Published: June 2021

Abstract
Background
Lung ultrasound (LUS) is helpful for the evaluation of patients with dyspnea in the emergency department (ED). However, it remains unclear how much training and how many LUS examinations are needed for ED physicians to obtain proficiency. The objective of this study was to determine the threshold number of LUS physicians need to perform to achieve proficiency for interpreting LUS on ED patients with dyspnea.

Methods
A prospective study was performed at Patan Hospital in Nepal, evaluating proficiency of physicians novice to LUS. After eight hours of didactics and hands-on training, physicians independently performed and interpreted ultrasounds on patients presenting to the ED with dyspnea. An expert sonographer blinded to patient data and LUS interpretation reviewed images and provided an expert interpretation. Interobserver agreement was performed between the study physician and expert physician interpretation. Cumulative sum analysis was used to determine the number of scans required to attain an acceptable level of training.

Results
Nineteen physicians were included in the study, submitting 330 LUS examinations with 3288 lung zones. Eighteen physicians (95%) reached proficiency. Physicians reached proficiency for interpreting LUS accurately when compared to an expert after 4.4 (SD 2.2) LUS studies for individual zone interpretation and 4.8 (SD 2.3) studies for overall interpretation, respectively.

Conclusions
Following 1 day of training, the majority of physicians novice to LUS achieved proficiency with interpretation of lung ultrasound after less than five ultrasound examinations performed independently.
Glutathione S-transferase M1 and T1 genes deletion polymorphisms and blood pressure control among treated essential hypertensive patients in Burkina Faso
Authors: Sombié Herman Karim , Tchelougou Daméhan , Ouattara Abdoul Karim , Kologo Jonas Koudougou , Sorgho Pegdwendé Abel , Somda Dogfunianalo , Yaméogo Sakinata , Zongo Arsène Wendpagnangdé , Kiendrebeogo Isabelle Touwendpoulimdé , Adoko Enagnon Tiémoko Herman Donald , Yonli Albert Théophane , Djigma Florencia Wendkuuni , Zabsonré Patrice , Millogo Hassanata , Simporé Jacques 
Published: June 2021

Abstract
Objective
Glutathione S-transferases have been associated with experimental resistance to some drugs. The present study investigated the factors associated with blood pressure control in patients with essential hypertension, especially the role of GSTT1 and GSTM1 genes polymorphisms. This cross-sectional study in Burkina Faso consisted of 200 patients with essential hypertension and under treatment.

Results
In the present study, 57.5% (115/200) of patients had their hypertension under control. No statistically significant difference was found between controlled and uncontrolled groups for anthropometric and biochemical parameters as well as for GSTT1 or GSTM1 gene polymorphisms (all p > 0.05). Current alcohol consumption (OR = 3.04; CI 1.88–6.13; p < 0.001), Physical inactivity (OR = 3.07; CI 1.71–5.49; p < 0.001), severe hypertension before any treatment (Grade III [OR = 3.79; CI 2.00–7.17; p < 0.001]) and heart damage (OR = 3, 14; CI 1.59–6.02; p < 0.001) were statistically more frequent in uncontrolled essential hypertensive patients than controlled hypertensive patients.
Evaluation of the effect of probiotic as add-on therapy with conventional therapy and alone in malaria induced mice
Authors: Mahajan Eshani , Sinha Shweta , Bhatia Alka , Sehgal Rakesh , Medhi Bikash 
Published: June 2021

Abstract
Objective
Chloroquine is used as a conventional drug therapy for the treatment of malaria. The existence of resistance to chloroquine shown among various species of Plasmodium leads to the search for more efficacious therapy to treat malaria. Probiotic (Lactobacillus casei) has been tried as an add-on therapy with chloroquine. Probiotics are ingested microorganisms associated with a beneficial effect on humans and other species. The study was done to check the efficacy of L. casei as an add-on therapy along with conventional drug therapy (chloroquine) to treat malaria.

Results
Probiotic in combination with chloroquine showed complete suppression in parasitemia rate. Representation of parasitemia rate was done using mean ± SD. p < 0.05 is considered as statistically significant. The results showed a reduction in parasitemia with probiotic treatment, which was further confirmed through histological observation of two major organs, the liver and spleen. Interestingly, further suppression of parasitemia and hemosiderosis was observed when probiotic was given along with chloroquine.
Transfer of Mycoplasma hyopneumoniae-specific cell mediated immunity to neonatal piglets
Authors: Biebaut Evelien , Beuckelaere Lisa , Boyen Filip , Haesebrouck Freddy , Gomez-Duran Charles-Oliver , Devriendt Bert , Maes Dominiek 
Published: June 2021

AbstractMycoplasma hyopneumoniaeis the primary agent of enzootic pneumonia in pigs. Although cell mediated immunity (CMI) may play a role in protection againstM. hyopneumoniae, its transfer from sows to their offspring is poorly characterized. Therefore, maternally-derived CMI was studied in piglets from vaccinated and non-vaccinated sows. The potential influence of cross-fostering before colostrum ingestion on the transfer of CMI from dam to piglets was also investigated. SixM. hyopneumoniaevaccinated sows from an endemically infected herd and 47 of their piglets, of which 24 piglets were cross-fostered, were included, as well as three non-vaccinated control sows from anM. hyopneumoniae-free herd and 24 of their piglets. Vaccinated sows received a commercial bacterin intramuscularly at 6 and 3 weeks prior to farrowing. The TNF-α, IFN-γ and IL-17A production by different T-cell subsets in blood of sows, colostrum and blood of piglets was assessed using a recall assay. In blood of sows cytokine producing T-cells were increased uponM. hyopneumoniaevaccination. Similarly,M. hyopneumoniae-specific T-cells were detected in blood of 2-day-old piglets born from these vaccinated sows. In contrast, noM. hyopneumoniae-specific cytokine producing T-cells were found in blood of piglets from control sows. No difference was found inM. hyopneumoniae-specific CMI between cross-fostered and non-cross-fostered piglets. In conclusion, differentM. hyopneumoniae-specific T-cell subsets are transferred from the sow to the offspring. Further studies are required to investigate the role of these transferred cells on immune responses in piglets and their potential protective effect againstM. hyopneumoniaeinfections.
Comparative study of growth performance, nutrient digestibility, and ruminal and fecal bacterial community between yaks and cattle-yaks raised by stall-feeding
Authors: Dai Qindan , Ma Jian , Cao Guang , Hu Rui , Zhu Yixiao , Li Guangyang , Zou Huawei , Wang Zhisheng , Peng Quanhui , Xue Bai , Wang Lizhi 
Published: June 2021

AbstractThe experiment was conducted to compare the growth performance, rumen fermentation, nutrient digestibility, and ruminal and fecal bacterial community between yaks and cattle-yaks. Ten male yaks (36-month-old) were used as the yak (YAK) group and 10 male cattle-yaks with similar age were selected as the cattle-yak (CAY) group. All the animals were fed same ration and the experiment lasted for 60 days. The results showed that the average daily gain and dry matter intake of CAY group were higher (P < 0.05) than those of YAK group. The ruminal concentrations of total volatile fatty acids, acetate, and butyrate were higher (P < 0.05) in CAY group than those in YAK group. However, the neutral detergent fiber and acid detergent fiber digestibility exhibited an opposite between two groups. In the rumen, the relative abundances of Prevotella 1 and Prevotellaceae UCG-001 were higher (P < 0.05) and Succiniclasticum and Butyrivibrio 2 were lower (P < 0.05) in YAK group compared to CAY group. In the feces, the unclassified Lachnospiraceae, Lachnospiraceae NK4A136 group, and Lachnospiraceae AC2044 group were significantly enriched (P < 0.05) in YAK group, whereas the Ruminococcaceae UCG-010, Ruminococcaceae UCG-013, and Succiniclasticum were significantly enriched (P < 0.05) in CAY group. Overall, under the same diet, the yaks have higher fiber utilization and cattle-yaks have higher energy utilization.
Computing resource allocation scheme of IOV using deep reinforcement learning in edge computing environment
Authors: Zhang Yiwei , Zhang Min , Fan Caixia , Li Fuqiang , Li Baofang 
Published: June 2021

AbstractWith the emergence and development of 5G technology, Mobile Edge Computing (MEC) has been closely integrated with Internet of Vehicles (IoV) technology, which can effectively support and improve network performance in IoV. However, the high-speed mobility of vehicles and diversity of communication quality make computing task offloading strategies more complex. To solve the problem, this paper proposes a computing resource allocation scheme based on deep reinforcement learning network for mobile edge computing scenarios in IoV. Firstly, the task resource allocation model for IoV in corresponding edge computing scenario is determined regarding the computing capacity of service nodes and vehicle moving speed as constraints. Besides, the mathematical model for task offloading and resource allocation is established with the minimum total computing cost as objective function. Then, deep Q-learning network based on deep reinforcement learning network is proposed to solve the mathematical model of resource allocation. Moreover, experience replay method is used to solve the instability of nonlinear approximate function neural network, which can avoid falling into dimension disaster and ensure the low-overhead and low-latency operation requirements of resource allocation. Finally, simulation results show that proposed scheme can effectively allocate the computing resources of IoV in edge computing environment. When the number of user uploaded data is 10K bits and the number of terminals is 15, it still shows the excellent network performance of low-overhead and low-latency.