bluuebunny/crossref_metadata_2025_split huggingface dataset:
Subclinical Ventricular Dysfunction in Long-Term Acromegaly Assessed by Speckle-Tracking Echocardiography
Authors: Gadelha Patricia , Santos Eduardo C. L. , Castillo Jose , Vilar Lucio 
Published: February 2022

IntroductionSymptomatic heart disease may be present in patients with advanced-stage acromegaly. However, earlier assessment of subclinical ventricular systolic dysfunction can be accomplished through speckle-tracking echocardiography (STE) for the study of myocardial strain. The few such studies in this population to date have produced conflicting results. This study was performed to evaluate the parameters of ventricular strain in patients with acromegaly with no cardiac symptoms.MethodsIn this prospective observational study, STE was performed in patients with active acromegaly with no detectable heart disease and in a control group to assess ventricular dysfunction through global longitudinal strain (GLS), radial strain, circumferential strain, and twist. The left ventricular (LV) ejection fraction, LV mass index, and relative wall thickness were also compared between the groups.ResultsTwenty-five patients with active acromegaly (median age, 49 years; median disease duration, 11 years) and 44 controls were included. LV hypertrophy was more prevalent in the acromegaly group (40% vs. 19%, p &lt; 0.01). The LV ejection fraction was similar between the groups (65.2% ± 5.99% vs. 62.9% ± 7.41%). The mean GLS (−18.8 ± 2.49 vs. −19.7 ± 3.29, p = 0.24), circumferential strain (−16.7 ± 3.18 vs. −16.6 ± 3.42, p = 0.90), and twist (14.6 ± 5.02 vs. 15.1 ± 3.94, p = 0.60) were not significantly different between the groups.ConclusionDespite showing higher rates of LV hypertrophy, patients with long-term acromegaly had no impairment of ventricular contractility as assessed by strain echocardiography when compared with a control group.
Synthesis, Characterization, and Application of Ag-Biochar Composite for Sono-Adsorption of Phenol
Authors: Khan Muhammad Naeem , Siddique Maria , Mirza Nosheen , Khan Romana , Bilal Muhammad , Riaz Nadia , Waheed Ummara , Shahzadi Irum , Ali Asmat , Abdellattif Magda H. , El-Saber Batiha Gaber , Al-Harrasi Ahmed , Khan Ajmal 
Published: February 2022

The silver-embedded wheat straw biochar (Ag–WBC) composite was tailored effectively via the green synthetic route and was used as a nano-adsorbent for the removal of phenol by using adsorption and sono-adsorption processes. Ligustrum lucidum leaf extract was employed as a reducer to prepare silver nanoparticles, and biochar was synthesized from wheat straw via pyrolysis at 450–500°C. The synthesized biochar and Ag–WBC were characterized by using UV–Vis, SEM, EDX, and FTIR. The study confirms the ability of plant leaf extract of L. lucidum to synthesize AgNPs and Ag–WBC composites for the first time. UV–vis spectroscopic analysis confirms the formation of AgNPs and Ag–WBC composites (400–440 nm). SEM results showed that the size of the Ag–WBC composite is in the range of 80–100 nm. The elemental profile of the synthesized Ag–WBC composite shows a higher count at 3 kev due to silver. FTIR analysis revealed the presence of various functional groups involved in reducing Ag metal ions into Ag nanoparticles onto the surface of the composite. Batch experiments executed adsorption and sono-adsorption studies on WBC and Ag–WBC composites, and the results revealed that under optimum conditions, that is, pH= 3, adsorbate concentration= 10 mg L−1, adsorbents dosage= 0.05 g, time= 90 min, and US power = 80 W, the phenol removal efficiencies onto Ag–WBC composite were 78% using sono-adsorption compared to the non-sonicated adsorption. Langmuir and Freundlich isotherm models for fitting the experimental equilibrium data were studied, and the Langmuir model was chosen as an efficient model for the sono-adsorption process. The feasibility of the sono-adsorption process was also evaluated by calculating kinetics.
Partial Monosomy 21 Mirrors Gene Expression of Trisomy 21 in a Patient-Derived Neuroepithelial Stem Cell Model
Authors: Schuy Jakob , Eisfeldt Jesper , Pettersson Maria , Shahrokhshahi Niloofar , Moslem Mohsen , Nilsson Daniel , Dahl Niklas , Shahsavani Mansoureh , Falk Anna , Lindstrand Anna 
Published: February 2022

Induced pluripotent stem cells (iPSCs) from patients are an attractive disease model to study tissues with poor accessibility such as the brain. Using this approach, we and others have shown that trisomy 21 results in genome-wide transcriptional dysregulations. The effects of loss of genes on chromosome 21 is much less characterized. Here, we use patient-derived neural cells from an individual with neurodevelopmental delay and a ring chromosome 21 with two deletions spanning 3.8 Mb at the terminal end of 21q22.3, containing 60 protein-coding genes. To investigate the molecular perturbations of the partial monosomy on neural cells, we established patient-derived iPSCs from fibroblasts retaining the ring chromosome 21, and we then induced iPSCs into neuroepithelial stem cells. RNA-Seq analysis of NESCs with the ring chromosome revealed downregulation of 18 genes within the deleted region together with global transcriptomic dysregulations when compared to euploid NESCs. Since the deletions on chromosome 21 represent a genetic “contrary” to trisomy of the corresponding region, we further compared the dysregulated transcriptomic profile in with that of two NESC lines with trisomy 21. The analysis revealed opposed expression changes for 23 genes on chromosome 21 as well as 149 non-chromosome 21 genes. Taken together, our results bring insights into the effects on the global and chromosome 21 specific gene expression from a partial monosomy of chromosome 21qter during early neuronal differentiation.
Whole Exome Sequencing Identified Novel ARMC9 Variations in Two Cases With Joubert Syndrome
Authors: Wang Hao , Luo Guanjun , Hu Wensheng , Mei Jin , Shen Yue , Wang Min , Tan Yuan , Yang Yang , Lu Chao , Zhao Yong , Qi Ming 
Published: February 2022

Background: Biallelic variations in the armadillo repeat-containing 9 (ARMC9) gene were recently defined to cause Joubert syndrome (JS) type thirty. In this study, two unrelated families with probands displaying typical indications of JS were enrolled and underwent a series of clinical and genetic investigations.Methods: Routine evaluation including magnetic resonance imaging (MRI) was carried out. Whole-exome sequencing (WES) was performed on the probands to detect causative variants. Next, in silico structural and molecular dynamic (MD) analysis was conducted on the missense variant for analyzing its intramolecular impact. Meanwhile, an in vitro study with the minigene system was performed to explore the specific impact on mRNA splicing of another variant.Results: Two unrelated patients from two different families came to our hospital exhibiting typical JS presentations, such as the “molar tooth sign.” Using WES, we identified that both probands carried the compound heterogeneous variants in ARMC9 (NM_025139.6), with c.1878+1G &gt; A and c.895C &gt; T (p.Arg299Ter) in family 1 and c.1878+1G &gt; A and c.1027C &gt; T (p.Arg343Cys) in family 2. These variants were inherited from their unaffected parents by Sanger sequencing, respectively, and ARMC9 c.895C &gt; T (p.Arg299Ter) and c.1878+1G &gt; A were novel variants. In silico analysis indicated the c.1027C &gt; T (p.Arg343Cys) would likely affect the secondary structure of the ARMC9 protein. The minigene study demonstrated that the splice site variant c.1878+1G &gt; A abolished the canonical donor site, resulting in an 18bp intronic retention of intron 20.Conclusion: The findings in this study expanded the mutation spectrum of ARMC9-associated JS, and we suggested that the function of ARMC9 in the pathogenesis of JS might involve the development of primary cilia, after discussing the function of the ARMC9 protein.
Association of Interleukin-10 Polymorphism (rs1800896, rs1800871, and rs1800872) With Breast Cancer Risk: An Updated Meta-Analysis Based on Different Ethnic Groups
Authors: Li Lijun , Xiong Wei , Li Donghua , Cao Jiangang 
Published: February 2022

Background: The interleukin10 (IL-10) gene polymorphisms have been indicated to be associated with breast cancer (BC) risk, but the findings are still controversial. To derive a more precise evaluation, we performed a comprehensive meta-analysis.Methods: A systematic literature search was conducted using PubMed, Embase, CNKI, China biomedical (CBM), and Google Scholar to 29 March 2020. Revman5.3 and Stata 12.0 software analyzed the data, and the strength of the association was identified using the odds ratio (OR) and the corresponding 95% confidence interval (CI).Results: A total of 23 studies (7,250 cancer cases and 7,675 case-free controls) were included in this meta-analysis. The results show that IL-10 gene polymorphisms were significantly correlated with BC risk based on subgroup analysis by ethnicity. The IL-10 rs1800896 polymorphism was significantly associated with the risk of BC in Asians (G vs. A: OR = 0.78, 95% CI = 0.65–0.95, p = 0.01; GG vs. AA: OR = 0.51, 95% CI = 0.31–0.84, p = 0.007; GA vs. AA: OR = 0.6, 95% CI = 0.44–0.81, p = 0.0009; GG + GA vs. AA: OR = 0.6, 95% CI = 0.45–0.81, p = 0.0007); Moreover, an increased BC risk in Asians were also associated with the IL-10 rs1800872 polymorphism (AA vs CC: OR = 0.74, 95% CI = 0.55–0.99, p = 0.04; A vs C: OR = 0.85, 95% CI = 0.74–0.98, p = 0.03). In addition, The IL-10 rs1800871 (CT vs. TT: OR = 1.8, 95% CI = 1.03–3.13, p = 0.04) and rs1800872 polymorphism (A vs C: OR = 0.65, 95% CI 0.43–0.98, p = 0.04) were associated with BC risk in Caucasians.Conclusion: Collectively, this meta-analysis demonstrated that IL-10 rs1800896 and rs1800872 (AA vs. CC; A vs. C) polymorphisms significantly increased the risk of BC in Asians, while the rs1800871 and rs1800872 (A vs. C) were associated with the risk of BC in Caucasians. Therefore, this may provide new ideas for predicting and diagnosing BC susceptibility through the detection of IL-10 gene polymorphism.Systematic Review Registration: [https://www.crd.york.ac.uk/ PROSPERO], identifier [CRD42021266635].
Five Visual and Olfactory Target Genes for RNAi in Agrilus Planipennis
Authors: Fan Zhizhi , Zhang Zhen , Zhang Xun , Kong Xiangbo , Liu Fu , Zhang Sufang 
Published: February 2022

RNA interference (RNAi) is a widely used technique for gene function researches and recently pest controls. It had been applied in emerald ash borer (EAB Agrilus planipennis) larvae and adults, and achieved significant interference effects, whether by ingesting or microinjecting. Feeding in the phloem and cambial regions, the larvae of A. planipennis are difficult to be controlled by conventional insecticides, so adult stage is the critical stage for EAB control. However, the target genes of adult stage of A. planipennis need to be further screened. Here, we preliminarily screened five potential target genes of vision and olfaction for RNAi in A. planipennis. Three odorant binding proteins (OBPs) and three opsins, which expressed significantly different between newly emerged and sexually mature EABs (OBP5, OBP7, OBP10, LW opsin 1 and UV opsin 2) or highly in sexually mature male EAB (UV opsin 3), were selected as targets to design primers for gene silencing. After dsRNA injection, the gene expression levels were determined by real-time quantitative PCR. We found that the expression levels of five genes were significantly down-regulated, during the 4 days after dsRNA injection. Among these genes, the expression of LW opsin 1 was down-regulated the most, causing a reduction of 99.1% compared with the control treated with EGFP dsRNA, followed by UV opsin 3 (97.4%), UV opsin 2 (97.0%), OBP7 (96.2%), and OBP10 (88.7%). This study provides a basis for further RNAi-based new controlling method development of A. planipennis at adult stage.
Hyper IgE Syndrome in an Isolated Population in Israel
Authors: Lachover-Roth Idit , Lagovsky Irina , Shtorch-Asor Atalia , Confino-Cohen Ronit , Reinstein Eyal , Garty Ben-Zion 
Published: February 2022

IntroductionHyper IgE syndromes (HIES) are a group of rare primary immunodeficiency characterized by high levels of serum IgE, cold abscesses, pulmonary infections, and eczema. ZNF341 deficiency was described in 2018 in 11 patients clinically diagnosed previously with HIES. Eight of those patients, all offspring of consanguineous couples, are from three families who live in a Muslim village in Israel which has approximately 15,000 residents.ObjectiveOur study aimed to evaluate the prevalence of ZNF341 mutation in the population of the village.MethodsThree hundred DNA samples of females were included in the study. The samples belong to females that were referred to the Meir Medical Center for prenatal genetic testing before pregnancy, during 2017-2019: 200 samples were from the village, and 100 samples of Muslim females were from other villages.All samples were tested by Sanger sequencing for the ZNF341 mutation (c.904C&gt;T, NM_001282933.1).ResultsHeterozygous nonsense mutation in ZNF341 was found in ten samples (5%) of the study group compared to zero in the control group (p&lt;0.01).ConclusionThe carrier frequency of the mutation in ZNF341 in the studied village population is 1:20. This high frequency is probably due to founder mutation and consanguineous marriages.
The Outcomes of XEN Gel Stent Implantation: A Systematic Review and Meta-Analysis
Authors: Chen Xuan-zhu , Liang Zhi-qiao , Yang Kang-yi , Lv Kun , Ma Yao , Li Meng-yang , Wu Hui-juan 
Published: February 2022

PurposeXEN gel stents are used for the treatment of open-angle glaucoma (OAG), including primary and secondary glaucoma that are uncontrolled by previous medical therapy and cases with previous failed surgery. Our aim was to systematically review of the clinical data of currently published ab-interno XEN gel stents with an emphasis on intraocular pressure (IOP), antiglaucoma medication outcomes, and safety profiles.MethodsWe analyzed all of the publications (MEDLINE, EMBASE, Cochrane Library) on the ab-interno XEN gel stent to evaluate the reduction in IOP and antiglaucoma medications following the procedure. The primary outcomes measured for the meta-analysis were reduction in IOP and anti-glaucoma medications. The secondary outcome were adverse events. For each study, we used a random effects analysis model to calculate the mean difference and 95% confidence intervals for the continuous results (reduction in IOP and antiglaucoma medications) using the inverse variance statistical method.ResultsFive hundred twenty-seven articles were checked and 56 studies were found to be relevant with a total of 4,410 eyes. There was a significant reduction in IOP as well as in the number of medications required in patients treated with ab-interno XEN implant either alone or combined with cataract surgery. This new treatment for various types of glaucoma reduced the IOP by 35% to a final average close to 15 mmHg. This reduction was accompanied by a decrease in the number of antiglaucoma medications in all the studies, approximately 2 classes of medication at the price of more needlings. The overall complete success rate was 21.0–70.8% after 2 years using strict criteria originally designed to record success rate in filtration surgery. The incidence of complications vision-threatening was low at &lt;1%.ConclusionsXEN gel stent was effective and safe for primary and secondary OAG. Further studies should be performed to investigate the impact of ethnicity on the success and failure rate after XEN implantation.
Donor-Related Risk Factors for Graft Decompensation Following Descemet's Stripping Automated Endothelial Keratoplasty
Authors: Nishisako Sota , Yamaguchi Takefumi , Hirayama Masatoshi , Higa Kazunari , Aoki Dai , Sasaki Chiaki , Noma Hisashi , Shimazaki Jun 
Published: February 2022

AimsTo identify donor-related risk factors associated with graft endothelial failure and postoperative endothelial cell density (ECD) reduction after Descemet's stripping automated endothelial keratoplasty (DSAEK).MethodsThis was a single-center retrospective study conducted from July 2006-December 2016. We included 584 consecutive eyes (482 patients) that underwent DSAEK for the treatment of laser iridotomy-related bullous keratopathy (192 eyes), pseudophakic bullous keratopathy (137 eyes), regraft (96 eyes), Fuchs' endothelial corneal dystrophy (FECD; 59 eyes) and others (100 eyes). Twenty-three donor- and recipient-related risk factors potentially associated with graft failure and ECD reduction were assessed using Cox hazard models and linear mixed effect models.ResultsThe median age of the patients was 73.5 years (male; 35.6%). After DSAEK, ECD decreased from 2,674 cells/mm2 (95% confidence interval [CI]; 2,646–2,701) to 1,132 (1,076–1,190) at 12 months and 904 (845–963) at 24 months (P &lt; 0.001). Fifty-five eyes (9.4%) had graft endothelial failure without rejection. This failure was associated with donor pseudophakic lens status (hazard ratio [HR]; 2.67, CI; 1.50–4.76, P = 0.001) and preoperative endothelial folds (HR; 2.82, CI; 1.20–6.62, P = 0.02). The incidence of graft endothelial failure in non-FECD patients was significantly higher among those receiving donor grafts with a pseudophakic lens status and preoperative presence of endothelial folds (P &lt; 0.001). Postoperative ECD loss was significantly greater in eyes with these risk factors compared to those without (P = 0.007).ConclusionsPseudophakic status and/or presence of preoperative endothelial folds are the significant donor risk factors for endothelial failure in non-FECD patients.
Development of a Nomogram to Predict the Risk of Chronic Active Epstein-Barr Virus Infection Progressing to Hemophagocytic Lymphohistiocytosis
Authors: He Xiaodan , Wang Jingshi , Song Deli , Wang Zhao 
Published: February 2022

BackgroundChronic active Epstein-Barr virus infection (CAEBV) disease is sometimes associated with an aggressive clinical course, such as hemophagocytic lymphohistiocytosis (HLH). To explore the risk factors and predict the risk of CAEBV infection progressing to HLH, a retrospective research study was conducted.MethodsWe retrospectively reviewed the medical records of 187 CAEBV-infected patients who were admitted to our center between January 2015 and December 2020. The patients were followed up until May 2021. The patients were divided into a progression-to-HLH group and a no-progression-to-HLH group. Demographic, clinical and laboratory data were collected for each patient.ResultsAmong the 121 CAEBV-infected patients who fulfilled the study's inclusion criteria, 48 (30.7%) patients did not progress to HLH, and 73 (60.3%) patients progressed to HLH. The median time from CAEBV infection to progression to HLH was 14 months, and the cumulative incidence rate of HLH increased as the duration of follow up increased (24.9, 47.3, 55.1, and 85.2% at 1, 3, 5, and 10 years, respectively). Multivariate analyses showed that the independent risk factors for CAEBV progression to HLH were plasma EBV-DNA load (OR = 3.239, 95% CI 1.219–8.603, P = 0.018), Platelet count (OR=0.991, 95%CI 0.985–0.998, P = 0.010), elevated alanine aminotransferase (OR=1.019, 95%CI 1.005–1.034, P = 0.009) and ≥2 of 3 lineages of cytopenia (OR=8.364, 95%CI 1.062–65.839, P = 0.044). The regression coefficients (β) from the multivariate logistic model were used to construct a model for estimating the risk of CAEBV infection progressing to HLH. The discriminatory ability of the model was good, and the area under the receiver operating characteristic (ROC) curve (AUC) was 0.925.Conclusionplasma EBV-DNA load, platelet count, elevated alanine aminotransferase and ≥ 2 of 3 lineages of cytopenia increase the risk of CAEBV infection progressing to HLH. A nomogram can be used to estimate the risk of CAEBV-infected patients progressing to HLH.
Analgesic Effects of Oxycodone in Combination With Risperidone or Ziprasidone: Results From a Pilot Randomized Controlled Trial in Healthy Volunteers
Authors: Nagpal Ameet S. , Lodge Daniel J. , Potter Jennifer S. , Frazer Alan , Tragus Robin , Curtis Megan E. , Boley Angela M. , Eckmann Maxim 
Published: February 2022

Background and ObjectivesPatients taking opioids are at risk of developing dependence and possibly abuse. Given the role of the mesolimbic dopamine system in opioid reward, blocking dopamine D2 receptors should limit the abuse liability of opioid analgesics. This pilot study evaluates the analgesic efficacy of oxycodone combined with an atypical antipsychotic (dopamine D2 receptor antagonist).MethodsA randomized, double-blind, within-subjects, controlled trial in healthy volunteers was conducted at UT Health SA Pain Clinic. Fifteen volunteers with previous medical exposure to opioids were enrolled. Risperidone (2 mg) or ziprasidone (80 mg) in combination with oxycodone (5, 10, 15 mg) was administered. Pain intensity using the cold pressor test, Current Opioid Misuse Measure (COMM), Addiction Research Center Inventory (ARCI, opioid subscale), Drug likability with drug effects questionnaire (DEQ) were assessed.ResultsOxycodone produced dose dependent increases in thermal analgesia on the cold pressor test that was significant at 10 and 15 mg (t = 3.087, P = 0.017). The combination did not significantly alter thermal analgesia. There was no significant effect of the combination on the ARCI or the POMS.Discussion and ConclusionThe combination of an atypical antipsychotic with oxycodone does not alter analgesic response or increase the incidence of adverse effects when compared to oxycodone alone. Such information is critical for the development of drug combinations for the treatment of pain and provide the foundation for future studies of abuse potential in drug users.Scientific SignificanceThis intervention in chronic pain patients is unique because it utilizes FDA approved drugs in combination to reduce abuse liability. The first step, and aim of this study, is to confirm the drug combination does not interfere with analgesic efficacy. The next step is to examine the combination in recreational drug users to assess the potential to block the euphoric effects of oxycodone. Ultimately, if this combination is effective, this approach could be beneficial in management of chronic pain.