bluuebunny/crossref_metadata_2025_split huggingface dataset:
Familial Hypercholesterolemia Prevalence Among Ethnicities—Systematic Review and Meta-Analysis
Authors: Toft-Nielsen Frida , Emanuelsson Frida , Benn Marianne 
Published: February 2022

Background: Heterozygous familial hypercholesterolemia (FH) is a common genetic disorder leading to premature cardiovascular disease and death as a result of lifelong high plasma low-density lipoprotein cholesterol levels, if not treated early in life. The prevalence of FH varies between countries because of founder effects, use of different diagnostic criteria, and screening strategies. However, little is known about differences in FH prevalence according to ethnicity. We aimed to investigate the ethnic distribution of FH in diverse populations and estimate the prevalence of FH according to ethnicity.Methods: We performed a systematic review and meta-analysis, searching PubMed and Web of Science for studies presenting data on the prevalence of heterozygous FH among different ethnicities in non-founder populations. Studies with more than 100 individuals, relevant data on prevalence, ethnicity, and using the Dutch Lipid Clinical Network Criteria, Simon Broome, Making Early Diagnosis Prevents Early Death, genetic screening, or comparable diagnostic criteria were considered eligible for inclusion.Results: Eleven general population studies and two patient studies were included in a systematic review and 11 general population studies in a random-effects meta-analysis. The overall pooled FH prevalence was 0.33% or 1:303 in 1,169,879 individuals (95% confidence interval: 0.26–0:40%; 1:385–1:250). Included studies presented data on six ethnicities: black, Latino, white, Asian, brown, and mixed/other. Pooled prevalence was estimated for each group. The highest prevalence observed was 0.52% or 1:192 among blacks (0.34–0.69%; 1:294–1:145) and 0.48% or 1:208 among browns (0.31–0.74%; 1:323–1:135) while the lowest pooled prevalence was 0.25% or 1:400 among Asians (0.15–0.35; 1:500–1:286). The prevalence was 0.37% or 1:270 among Latino (0.24–0.69%; 1:417–1:145), 0.31% or 1:323 among white (0.24–0.41%; 1:417–1:244), and 0.32% or 1:313 among mixed/other individuals (0.13–0.52%; 1:769–1:192).Conclusion: The estimated FH prevalence displays a variation across ethnicity, ranging from 0.25% (1:400) to 0.52% (1:192), with the highest prevalence seen among the black and brown and the lowest among the Asian individuals. The differences observed suggest that targeted screening among subpopulations may increase the identification of cases and thus the opportunity for prevention.
Association of Peripheral Blood Biomarkers With Response to Anti-PD-1 Immunotherapy for Patients With Deficient Mismatch Repair Metastatic Colorectal Cancer: A Multicenter Cohort Study
Authors: Cheng Yi-Kan , Chen Dong-Wen , Chen Ping , He Xiaosheng , Li Pei-Si , Lin Zhen-Sen , Chen Shao-Xia , Ye Shu-Biao , Lan Ping 
Published: February 2022

PurposeDeficient mismatch repair (dMMR) is an established biomarker for the response to the programmed cell death (PD)-1 inhibitors in metastatic colorectal cancer (mCRC). Although patients with dMMR mCRC could achieve a high incidence of disease control and favorable progression-free survival (PFS), reported response rates to PD-1 inhibitors are variable from 28% to 52%. We aimed to explore the additional predictive biomarkers associated with response to anti-PD-1 immunotherapy in patients with dMMR mCRC.MethodsThis multicenter cohort study enrolled patients with dMMR mCRC receiving anti-PD-1 immunotherapy at the Sixth Affiliated Hospital of Sun Yat-sen University and Sun Yat-sen University Cancer Center between December 2016 and December 2019. The total information of 20 peripheral blood biomarkers, including T cells (frequency of CD4+ T cell, frequency of CD8+ T cell, and ratio of CD4+/CD8+), carcinoembryonic antigen (CEA), inflammatory markers, and lipid metabolism markers, was collected. The association between response or survival and peripheral blood parameters was analyzed.ResultsAmong the tested parameters, the ratio of CD4+/CD8+ and frequency of CD4+ T cell were significantly associated with PFS (p = 0.023, p = 0.012) and overall survival (OS; p = 0.027, p = 0.019) in a univariate analysis. A lower level of CD4+/CD8+ ratio or frequency of CD4+ T cell showed a significant association with better overall response rates (ORRs; p = 0.03, p = 0.01). The ratio of CD4+/CD8+ and frequency of CD4+ T cell maintained significance in multivariate Cox model for PFS (HR = 9.23, p = 0.004; HR = 4.83, p = 0.02) and OS (HR = 15.22, p = 0.009; HR = 16.21, p = 0.025).ConclusionThis study indicated that the ratio of CD4+/CD8+ and the frequency of CD4+ T cell might be crucial independent biomarkers within dMMR mCRC to better identify patients for anti-PD-1 immunotherapy. If validated in prospective clinical trials, the ratio of CD4+/CD8+ and the frequency of CD4+ T cell might aid in guiding the treatment of PD-1 inhibitors among patients with dMMR mCRC.
Uniaxial Compression Damage Mechanical Properties and Mechanisms of Dolomite Under Deep High-Humidity Condition
Authors: Chen Wei , Peng Wenqing , Wan Wen , Wang Xianqing , Wu Qiuhong , Zhou Yu , Xie Senlin 
Published: February 2022

The paper studies the uniaxial compression mechanical properties of pillars under the deep and high-humidity environment. We make the pillars cored from the −750 m mine room of Wengfu Phosphate Mine into the standard dolomite samples and test with a humidity control device developed by ourselves. Combining with uniaxial compression tests and microstructure inspections, we study the mechanical deterioration rule and damage mechanism of the dry samples and the wet ones that have been placed in a high-humidity condition (90% RH) for 30, 60 and 90 d, respectively. The results show that: 1) When the sample is placed in the humidity device, its original layered or sheet crystal morphology will change into sponge-like or flocculent morphology. As the placement time increases, the structure of the sample becomes looser and the boundaries between layers become blurred. The numbers of micro-cracks and micro-pores increase. 2) In the initial stage of water molecule intrusion (0–30 d), the strength and mass damages of the rock sample are less, and the damage rate is low. As high-humidity action time increases (30–90 d), the damage rates of both strength and mass gradually grow. 3) The failure modes of dolomites include shear failure and tensile/shear mixed failure, which are controlled by the storage time under high-humidity condition. As time goes by, more macroscopic cracks appear and the failure mode of the rock changes from shear to tensile. 4) Based on the X-ray diffraction and scanning electron microscopy analysis on mineral components, together with the principle of chemical kinetics, we discuss the chemical reaction process between dolomite and gaseous water molecules, and summarize the chemical damage mechanism of rocks during the water-rock interaction. The research has a certain guiding significance for the durability and stability prediction of pillars under deep high-humidity conditions.
Machine Learning Assisted Design of Experiments for Solid State Electrolyte Lithium Aluminum Titanium Phosphate
Authors: Zhao Yinghan , Schiffmann Nikolas , Koeppe Arnd , Brandt Nico , Bucharsky Ethel C. , Schell Karl G. , Selzer Michael , Nestler Britta 
Published: February 2022

Lithium-ion batteries with solid electrolytes offer safety, higher energy density and higher long-term performance, which are promising alternatives to conventional liquid electrolyte batteries. Lithium aluminum titanium phosphate (LATP) is one potential solid electrolyte candidate due to its high Li-ion conductivity. To evaluate its performance, influences of the experimental factors on the materials design need to be investigated systematically. In this work, a materials design strategy based on machine learning (ML) is employed to design experimental conditions for the synthesis of LATP. In the variation of parameters, we focus on the tolerance against the possible deviations in the concentration of the precursors, as well as the influence of sintering temperature and holding time. Specifically, models built with different design selection strategies are compared based on the training data assembled from previous laboratory experiments. The best one is then chosen to design new experiment parameters, followed by measuring the corresponding properties of the newly synthesized samples. A previously unknown sample with ionic conductivity of 1.09 × 10−3 S cm−1 is discovered within several iterations. In order to further understand the mechanisms governing the high ionic conductivity of these samples, the resulting phase compositions and crystal structures are studied with X-ray diffraction, while the microstructures of sintered pellets are investigated by scanning electron microscopy. Our studies demonstrate the advantages of applying machine learning in designing experimental conditions by the synthesis of desired materials, which can effectively help researchers to reduce the number of required experiments.
Association Between Drinking Water Sources and Osteoarthritis Incidence in Chinese Elderly Population: National Population-Based Cohort Study
Authors: Zhang Yangchang , Wu Tingting , Shen Shisi , Xiong Yang , Wang Xu , Yang Jialu , Chen Xirui , Lu Yanjun , Lei Xun 
Published: February 2022

BackgroundThe elderly is a vulnerable group susceptible to toxic environmental factors; however, the association between unsafe water and osteoarthritis (OA) incident among this population is poorly investigated. This study aimed to examine the effects of drinking water sources on OA risk in the Chinese elderly population.MethodsData were obtained from the China Longitudinal Healthy Longevity Survey to perform a 16-year longitudinal study. All participants aged ≥65 years at baseline were potentially eligible. Information on drinking water sources was recorded via a structured questionnaire. The water source was classified as well, surface, spring, or tap. OA was selected as the health outcome. Cox proportional hazard models, adjusted socio-demographics, lifestyle, and chronic disease were used to estimate the hazard ratio (HR) for OA. Subgroup analyses were performed to assess the potential interactive effect.ResultsA total of 12,543 participants were included. With restriction to the longest follow-up time, the mean survival time of follow-up was 14.56 years. Among the cohort members, 1,585 members suffered from OA. In the full model, drinking from well water and spring water was associated with a higher risk of OA compared with drinking from tap water (HR: 1.37, 95% CI: 1.22–1.54; HR: 1.34, 95% CI: 1.03–1.74). Except for age, the effects of modifications from socioeconomic status, lifestyles, and health conditions were non-significant (p for interaction &lt;0.05). After multiple imputations for missing data and excluding deaths in the first year of follow-up and participants with a history of the disease and using the Shared-frailty Cox model, sensitivity analysis indicated a robust association between the drinking water source and OA incidence.ConclusionDrinking tap water was associated with a low risk of OA among older adults in China. The use of clean water sources as a marker of decreased OA and arthritis risks must be revisited in low- and middle-income countries.
Different Trends in the Incidence and Mortality Rates of Prostate Cancer Between China and the USA: A Joinpoint and Age-Period-Cohort Analysis
Authors: He Hairong , Liang Liang , Han Didi , Xu Fengshuo , Lyu Jun 
Published: February 2022

PurposeThis study used data from the Global Burden of Disease Study 2019 (GBD 2019) to determine the differences in the incidence and mortality of prostate cancer (PCa) between China and the USA from 1990 to 2019.MethodThe age-standardized incidence rates (ASIRs) and age-standardized death rates (ASDRs) in China and the USA from 1990 to 2019 were extracted from GBD 2019. Annual percentage changes and relative risks of ASIR and ASDR were calculated using joinpoint regression analysis and age-period-cohort models, respectively.ResultsThe ASIR of PCa in China continually increased from 1990 to 2019, while in the USA it increased from 1990 to 1994 and then continually decreased until 2015, and then slightly increased again until 2019. The ASDR in China did not change, and the trend of ASDR in the USA was similar to the trend of the ASIR in the USA. The incidence of PCa increased with age in China, but decreased after the age of 75 years in the USA. A period effect was present, with the risk of developing PCa increasing continuously over longer time periods. Those born later had a lower risk of PCa or death, indicating a cohort effect.ConclusionPCa is becoming more problematic for Chinese males. Disease trends in the USA indicate that large-scale screening may be beneficial and should be immediately implemented among high-risk groups in China.
Mycobacterium tuberculosis and SARS-CoV-2 Coinfections: A Review
Authors: Bostanghadiri Narjess , Jazi Faramarz Masjedian , Razavi Shabnam , Fattorini Lanfranco , Darban-Sarokhalil Davood 
Published: February 2022

BackgroundTuberculosis (TB) is still one of the most important causes of death worldwide. The lack of timely attention on TB diagnosis and treatment during the coronavirus disease 2019 (COVID-19) pandemic is a potential threat to health issues and may have severe consequences for patients and health systems. There is not much information on the management of TB during this period. Here, we reviewed the current literature to evaluate the rate of Mycobacterium tuberculosis and severe acute respiratory syndrome coronavirus 2 coinfections and interactions between these infectious agents.MethodsSeveral databases, including Web of Science, Scopus, and MEDLINE (via PubMed), were searched for original articles addressing TB and COVID-19 diseases published from December 2019 to April 2021.ResultsOf 3,879 articles, 57 articles were included in this study, and among 106,033 patients affected by COVID-19, 891 also had TB. Overall, investigators found a consistent increase in C-reactive protein, D-dimer (especially in patients with severe clinical manifestation), erythrocyte sedimentation rate, lactate dehydrogenase, alanine aminotransferase, and a reduction of lymphocytes. The respiratory symptoms of TB/COVID-19 patients were similar to those of TB patients, but the risk of developing pulmonary TB increased in COVID-19 patients. Also, the mortality rate in TB/COVID-19 patients was higher than that in patients affected only by COVID-19 or TB.ConclusionSome reports indicated worsening respiratory symptoms and even activation of latent TB after COVID-19 or vice versa. It seems that both active and previously treated TB constituted a risk factor for COVID-19 in terms of severity and mortality, regardless of other underlying diseases and patient status. Health systems should not neglect TB during this era of the ongoing COVID-19 pandemic by setting up appropriate diagnostic and clinical management algorithms.
Remote Ischemic Conditioning in the Prevention for Stroke-Associated Pneumonia: A Pilot Randomized Controlled Trial
Authors: Zhang Bowei , Zhao Wenbo , Ma Hongrui , Zhang Yunzhou , Che Ruiwen , Bian Tingting , Yan Heli , Xu Jiali , Wang Lin , Yu Wantong , Liu Jia , Song Haiqing , Duan Jiangang , Chang Hong , Ma Qingfeng , Zhang Qian , Ji Xunming 
Published: February 2022

BackgroundDespite the continuing effort in investigating the preventive therapies for stroke-associated pneumonia (SAP), which is closely associated with unfavorable outcomes, conclusively effective therapy for the prevention of SAP is still lacking. Remote ischemic conditioning (RIC) has been proven to improve the survival in the sepsis model and inflammatory responses have been indicated as important mechanisms involved in the multi-organ protection effect of RIC. This study aimed to assess the safety and the preliminary efficacy of RIC in the prevention of SAP in patients with acute ischemic stroke.MethodsWe performed a proof-of-concept, pilot open-label randomized controlled trial. Eligible patients (age &gt; 18 years) within 48 h after stroke onset between March 2019 and October 2019 with acute ischemic stroke were randomly allocated (1:1) to the RIC group and the control group. All participants received standard medical therapy. Patients in the RIC group underwent RIC twice daily for 6 consecutive days. The safety outcome included any adverse events associated with RIC procedures. The efficacy outcome included the incidence of SAP, changes of immunological profiles including mHLA-DR, TLR-2, and TLR-4 as well as other plasma parameters from routine blood tests.ResultsIn total, 46 patients aged 63.1 ± 12.5 years, were recruited (23 in each group). Overall, 19 patients in the RIC group and 22 patients in the control group completed this study. No severe adverse event was attributed to RIC procedures. The incidence of SAP was lower in the remote ischemic conditioning group (2 patients [10.5%]) than that in the control group (6 patients [27.3%]), but no significant difference was detected in both univariate and multivariate analysis (p = 0.249 and adjusted p = 0.666). No significance has been found in this pilot trial in the level of immunological profiles HLA-DR, TLR4 and TLR2 expressed on monocytes as well as blood parameters tested through routine blood tests between the two groups (p &gt; 0.05). The IL-6 and IL-1β levels at day 5 after admission in the RIC group were lower than those in the control group (p &lt; 0.05).InterpretationThis proof-of-concept pilot randomized controlled trial was to investigate RIC as a prevention method for SAP. Remote ischemic conditioning is safe in the prevention of SAP in patients with acute ischemic stroke. The preventive effect of RIC on SAP should be further validated in future studies.
Long-Term Sonographical Follow-Up of Arterial Stenosis Due to Spontaneous Cervical Artery Dissection
Authors: Strunk Daniel , Schwindt Wolfram , Wiendl Heinz , Dittrich Ralf , Minnerup Jens 
Published: February 2022

PurposeLittle is known about the long-term course of arterial stenosis after spontaneous cervical artery dissection (sCAD). We analyzed changes over time and evaluated factors potentially associated with these changes and recurring sCAD.Materials and MethodsAdult patients with sCAD, admitted to our neurological department between 2004 and 2018, were included. All patients underwent initial and follow-up repetitive neurovascular ultrasound for a mean duration of 15.3 ± 21 months. Clinical and imaging data were registered for each patient.ResultsA total of 259 sCADs were diagnosed in 224 patients. Either internal carotid arteries (n = 133, 59.4%), vertebral arteries (n = 58, 25.9%), or multiple arteries (n = 33, 14.7%) were affected. In 93 out of 183 patients (51%), and in 117 out of 210 arteries under investigation (55.7%), vascular stenosis decreased over time. Occluded arteries recanalized early in 34 (54%) and stayed occluded in 29 patients (46.0%). Of 145 initially hemodynamically relevant stenosis, 77 (53.1%) improved over time. Overall, 12 patients (5.4 %) had a recurring sCAD during follow-up. Pseudoaneurysms were found in 19 patients.ConclusionThe sonographical course of sCAD is highly dynamic within the first year after disease onset and should be monitored carefully. Decreasing degrees of stenosis and recanalization of occluded arteries occurred in half of all patients. Recurrent sCAD was a rare event in our cohort.
Leukoaraiosis Mediates the Association of Total White Blood Cell Count With Post-Stroke Cognitive Impairment
Authors: Shan Wanying , Xu Liang , Xu Yuan , Qiu Zhuoyin , Feng Jie , Zhao Jie , Wang Jingwen 
Published: February 2022

Background and PurposeThe inflammatory response could play a key role in cognitive impairment. However, there has been limited research into the association between total white blood cell (WBC) count and post-stroke cognitive impairment (PSCI), and the significance of leukoaraiosis (LA) in this relationship is unknown. We aimed to examine the total WBC count in relation to PSCI and whether this association was mediated by LA.MethodsConsecutive patients with first-ever ischemic stroke were prospectively enrolled from October 2020 to June 2021. The total WBC count was measured after admission. Cognitive function evaluations were performed at the 3-month follow-up using Mini-mental State Examination (MMSE). We defined the PSCI as an MMSE score &lt;27.ResultsA total of 276 patients (mean age, 66.5 years; 54.7% male) were included in this analysis. Among them, 137 (49.6%) patients experienced PSCI. After adjustment for potential confounders, higher total WBC count was significantly correlated with an increased risk of LA [per 1-SD increase, odds ratio (OR), 1.39; 95% CI 1.06–1.82; p = 0.017] and PSCI (per 1-SD increase, OR, 1.51; 95% CI 1.12–2.04; p = 0.006). Furthermore, mediation analysis demonstrated that the association between total WBC count and PSCI was partly mediated by LA (the regression coefficient was changed by 9.7% for PSCI, and 12.4% for PSCI severity, respectively).ConclusionIncreased total WBC count is a risk factor for PSCI. The presence of LA was partially responsible for the PSCI in patients who had a higher total WBC count.
Is the Phenotype Designation by PSP-MDS Criteria Stable Throughout the Disease Course and Consistent With Tau Distribution?
Authors: Sánchez-Ruiz de Gordoa Javier , Zelaya Victoria , Tellechea-Aramburo Paula , Acha Blanca , Roldán Miren , López-Molina Carlos , Coca Valle , Galbete Arkaitz , Mendioroz Maite , Erro M. Elena 
Published: February 2022

IntroductionThe MDS-PSP criteria have shown high sensitivity for the PSP diagnosis, but do not discriminate the phenotype diversity. Our purpose was to search for anatomopathological differences among PSP phenotypes resulting from the application of the MDS-PSP criteria comparing with the previous ones.MethodsThirty-four PSP cases from a single brain bank were retrospectively classified according to the criteria used by Respondek et al. in 2014 and the PSP-MDS criteria at 3 years (MDS-3y), 6 years (MDS-6y) and at the last clinical evaluation before death (MDS-last). Semiquantitative measurement of total, cortical and subcortical tau load was compared. For comparative analysis, PSP-Richardson syndrome and PSP postural instability were grouped (PSP-RS/PI) as well as the PSP atypical cortical phenotypes (PSP-Cx).ResultsApplying the Respondek's criteria, PSP phenotypes were distributed as follow: 55.9% PSP-RS/PI, 26.5% PSP-Cx, 11.8% PSP-Parkinsonism (PSP-P), and 5.9% PSP-Cerebellum. PSP-RS/PI and PSP-Cx had a higher total tau load than PSP-P; PSP-Cx showed a higher cortical tau load than PSP-RS/PI and PSP-P; and PSP-RS/PI had a higher subcortical tau load than PSP-P. Applying the MDS-3y, MDS-6y and MDS-last criteria; the PSP-RS/PI group increased (67.6, 70.6 and 70.6% respectively) whereas the PSP-Cx group decreased (8.8, and 8.8 and 11.8%). Then, only differences in total and subcortical tau burden between PSP-RS/PI and PSP-P were observed.InterpretationAfter the retrospective application of the new MDS-PSP criteria, total and subcortical tau load is higher in PSP-RS/PI than in PSP-P whereas no other differences in tau load between phenotypes were found, as a consequence of the loss of phenotypic diversity.