bluuebunny/crossref_metadata_2025_split huggingface dataset:
NHX-Type Na+/H+ Antiporter Gene Expression Under Different Salt Levels and Allelic Diversity of HvNHX in Wild and Cultivated Barleys
Authors: Jabeen Zahra , Irshad Faiza , Hussain Nazim , Han Yong , Zhang Guoping 
Published: February 2022

Salinity tolerance is a multifaceted trait attributed to various mechanisms. Wild barley is highly specialized to grow under severe environmental conditions of Tibet and is well-known for its diverse germplasm with high tolerance to abiotic stresses. The present study focused on determining the profile of the expression of isoforms of the HvNHX gene in 36 wild and two cultivated barley under salt stress. Our findings revealed that in leaves and roots, expression of HvNHX1 and HvNHX3 in XZ16 and CM72 was upregulated at all times as compared with sensitive ones. The HvNHX2 and HvNHX4 isoforms were also induced by salt stress, although not to the same extent as HvNHX1 and HvNHX3. Gene expression analysis revealed that HvNHX1 and HvNHX3 are the candidate genes that could have the function of regulators of ions by sequestration of Na+ in the vacuole. HvNHX1 and HvNHX3 showed a wide range of sequence variations in an amplicon, identified via single-nucleotide polymorphisms (SNPs). Evaluation of the sequencing data of 38 barley genotypes, including Tibetan wild and cultivated varieties, showed polymorphisms, including SNPs, and small insertion and deletion (INDEL) sites in the targeted genes HvNHX1 and HvNHX3. Comprehensive analysis of the results revealed that Tibetan wild barley has distinctive alleles of HvNHX1 and HvNHX3 which confer tolerance to salinity. Furthermore, less sodium accumulation was observed in the root of XZ16 than the other genotypes as visualized by CoroNa-Green, a sodium-specific fluorophore. XZ16 is the tolerant genotype, showing least reduction of root and leaf dry weight under moderate (150 mM) and severe (300 mM) NaCl stress. Evaluation of genetic variation and identification of salt tolerance mechanism in wild barley could be promoting approaches to unravel the novel alleles involved in salinity tolerance.
Inborn Errors of Immunity Associated With Type 2 Inflammation in the USIDNET Registry
Authors: Smith Kelsey L. , Dai Darlene , Modi Bhavi P. , Sara Rahnuma , Garabedian Elizabeth , Marsh Rebecca A. , Puck Jennifer , Secord Elizabeth , Sullivan Kathleen E. , Turvey Stuart E. , Biggs Catherine M. ,   the USIDNET Consortium
Published: February 2022

BackgroundMonogenic conditions that disrupt proper development and/or function of the immune system are termed inborn errors of immunity (IEIs), also known as primary immunodeficiencies. Patients with IEIs often suffer from other manifestations in addition to infection, and allergic inflammation is an increasingly recognized feature of these conditions.MethodsWe performed a retrospective analysis of IEIs presenting with allergic inflammation as reported in the USIDNET registry. Our inclusion criteria comprised of patients with a reported monogenic cause for IEI where reported lab eosinophil and/or IgE values were available for the patient prior to them receiving potentially curative therapy. Patients were excluded if we were unable to determine the defective gene underlying their IEI. Patients were classified as having eosinophilia or elevated IgE when their record included at least 1 eosinophil count or IgE value that was greater than the age stratified upper limit of normal. We compared the proportion of patients with eosinophilia or elevated IgE with the proportion of samples in a reference population that fall above the upper limit of normal (2.5%).ResultsThe query submitted to the USIDNET registry identified 1409 patients meeting inclusion criteria with a monogenic cause for their IEI diagnosis, of which 975 had eosinophil counts and 645 had IgE levels obtained prior to transplantation or gene therapy that were available for analysis. Overall, 18.8% (183/975) of the patients evaluated from the USIDNET registry had eosinophilia and 20.9% (135/645) had an elevated IgE. IEIs caused by defects in 32 genes were found to be significantly associated with eosinophilia and/or an elevated IgE level, spanning 7 of the 10 IEI categories according to the International Union of Immunological Societies classification.ConclusionType 2 inflammation manifesting as eosinophilia or elevated IgE is found in a broad range of IEIs in the USIDNET registry. Our findings suggest that allergic immune dysregulation may be more widespread in IEIs than previously reported.
Molecular Characteristics, Clinical Significance, and Cancer Immune Interactions of Angiogenesis-Associated Genes in Gastric Cancer
Authors: Qing Xin , Xu Wenjing , Liu Shengli , Chen Zhencheng , Ye Chunping , Zhang Yewei 
Published: February 2022

BackgroundImmunotherapy has evolved as a critical option to treat diverse cancers. The active response to immunotherapy relies on the unique interaction between cancer and the tumor microenvironment (TME). Angiogenesis is one of the hallmarks of cancer. However, the association between angiogenesis and clinical outcome, immune cell infiltration, and immunotherapy remains unknown in gastric cancer (GC).MethodsWe systematically assessed 36 angiogenesis-associated genes (AAGs) and comprehensively identified the correlation between angiogenesis and transcriptional patterns, prognosis, and immune cell infiltration. The AAG_score was applied to quantify the angiogenesis subtypes of each patient. We then evaluated their values in prognostic prediction and therapeutic responses in GC.ResultsWe discussed the mutations of AAGs in GC specimens from genetic levels and identified their expression patterns from TCGA and GEO cohorts. We determined two different molecular subtypes and observed that AAG mutations were related to patients’ clinicopathological characteristics, prognosis, and infiltrating TME. Next, an AAG_score for predicting overall survival (OS) was established and its reliable predictive ability in GC patients was confirmed. Furthermore, we created a highly reliable nomogram to facilitate the clinical viability of the AAG_score. A low AAG_score, characterized by elevated microsatellite instability-high, mutation burden, and immune activation, demonstrated a superior OS. Additionally, the AAG_score was remarkedly correlated with the cancer stem cell index and drug susceptibility.ConclusionCollectively, we identified a prognostic AAG signature for GC patients. This signature may contribute to clarifying the characteristics of TME and enable the exploration of more potent immunotherapy strategies.
Effect of CO2 on the Hydration of Aluminate Cement Under Conditions of Burning Reservoir in Heavy Oil Thermal Recovery
Authors: Wu Guangai , Wu Zhiqiang , Xing Xuesong , Cai Jingxuan , Cheng Xiaowei 
Published: February 2022

Under conditions of heavy oil thermal recovery, cement sheaths often suffer high-temperature performance degradation and CO2 corrosion. The performance of Class G oil well cement commonly used for cementing, deteriorates significantly at high temperatures and in CO2 environments, which can easily cause accidents. By contrast aluminate cement (CAC), at the same time, has good high-temperature resistance and corrosion resistance. Therefore, this study explored the mechanical properties and permeability of CAC with a high-temperature stabiliser cement slurry system (C1), pure CAC slurry system (C2) and Portland cement with sand cement slurry system (C3) before and after corrosion at 50, 300, 400, 500, and 600°C. The micromorphology, hydration products and pore structure of the cement paste before and after corrosion were analyzed using scanning electron microscopy, X-ray diffraction, thermogravimetry and nitrogen adsorption specific surface area and pore diameter analysis; additionally, the hydration mechanism of CAC under high temperatures and in CO2 environments was explored. The results show that the degree of degradation of the mechanical properties of C1 cement slurry system at high temperatures and under CO2 corrosive environments is significantly lower than that of the C3 cement slurry system. At a curing high temperature of 400°C, the maximum strength of the C1 cement paste reached 36.39 ± 0.37 MPa. The addition of a high-temperature stabiliser improved the mechanical properties of CAC at low temperatures, reduced the formation of C3ASH4 in the cement paste at high temperatures, and improved the strength of the cement paste after high-temperature curing. Compared with the C3 cement slurry system, the C1 cement slurry system had better high-temperature resistance and corrosion resistance and was more suitable for application under conditions of a burning reservoir in heavy oil thermal recovery.
Supramaximal Horizontal Rectus Recession–Resection Surgery for Complete Unilateral Abducens Nerve Palsy
Authors: Wang Zhonghao , Fu Licheng , Shen Tao , Qiu Xuan , Yu Xinping , Shen Huangxuan , Yan Jianhua 
Published: February 2022

PurposeTo review the surgical procedures and outcomes of supramaximal horizontal rectus recession–resection surgery for abduction deficiency and esotropia resulting from complete unilateral abducens nerve palsy.MethodsA total of 36 consecutive cases diagnosed as complete abducens nerve palsy, receiving supramaximal medial rectus recession (8.5 ± 1.4 mm, range: 6–10) combined with a supramaximal lateral rectus resection (11.1 ± 1.7 mm, range: 8–14) as performed over the period from 2017 to 2020, were reviewed retrospectively. All surgeries were performed by a single surgeon. Pre- and post-operative ocular motility, ocular alignment, forced duction test, binocular vision, abnormal head posture, and surgical complications were assessed.ResultsOf these 36 cases, 23 (63.8%) were followed up for greater than 2 months (Mean ± SD = 8.4 ± 6.0, range: 2–24) after surgery and the collected data was presented. Mean ± SD age of these patients was 41.7 ± 14.4 (range: 12–67) years with 73.9% being female. Trauma (52.2%, 12/23) and cerebral lesions (21.7%, 5/23) were the primary etiologies for this condition. Esodeviation in primary position improved from 55.5 ± 27.2 prism diopters (PD) (range: +25 to +123) to 0.04 ± 7.3 PD (range: −18 to +12) as assessed on their last visit. Pre-operative abduction deficits of −5.6 ± 1.0 (range: −8 to −4) reduced to −2.4 ± 1.4 (range: −4 to 0) post-operatively. The mean dose-effect coefficient of 2.80 ± 1.20 PD/mm (range: 1.07–6.05) was positively correlated with pre-operative esodeviation. Rates of overcorrection and ortho were 69.6 and 26.1%, respectively, on the first day after surgery, while on their last visit the respective levels were 4.3 and 82.6%.ConclusionSupramaximal horizontal rectus recession–resection surgery is an effective treatment method for complete abduction deficiency. The dose-effect was positively correlated with pre-operative esodeviation. Overcorrection on the first day post-operatively is required for a long-term satisfactory surgical outcome.
A Randomized Placebo-Controlled Trial of Combination Therapy With Post-triple-antibiotic-therapy Fecal Microbiota Transplantation and Alginate for Ulcerative Colitis: Protocol
Authors: Ishikawa Dai , Zhang Xiaochen , Nomura Kei , Seki Natsumi , Haraikawa Mayuko , Haga Keiichi , Shibuya Tomoyoshi , Kim Yun-Gi , Nagahara Akihito 
Published: February 2022

BackgroundFecal microbiota transplantation (FMT) has been widely performed for ulcerative colitis (UC) treatment at the clinical trial stage. Previous reports have used multiple FMT methods to enhance the colonization of healthy donor microbiota in the recipient's intestines. FMT following triple antibiotic therapy with amoxicillin, fosfomycin, and metronidazole (A-FMT) is not only effective but also requires only one FMT, which improves dysbiosis caused by reduced Bacteroidetes diversity in patients with UC. Alginate and its derivatives have the potential to induce the growth of intestinal bacteria including Bacteroides members and produce short-chain fatty acids (SCFAs), which are beneficial in regulating overactive autoimmunity. Our trial aims to investigate whether post-intervention with alginate, which can improve the intestinal environment, will enhance the therapeutic effect of A-FMT in UC and increase the long-term remission rate.Methods and AnalysisThis trial is a double-blinded, randomized, placebo-controlled, parallel assignment trial. Patients with UC and fecal donation candidates will undergo strict screening before being involved in the trial. Eligible patients are randomly divided into two groups: one group will drink one bottle of alginate twice a day for 8 consecutive weeks after A-FMT, while the other group will take a placebo instead of the alginate drink. The primary endpoints are the changes in the Total Mayo Score at 8 weeks after study initiation and A-FMT from baseline. The secondary endpoint is the comparison of clinical features, microbiota, and metabolomic analysis before and after 8 weeks of study food intake. Changes at 6, 12, 18, and 24 months after A-FMT will be assessed. Finally, a subpopulation analysis of the relationship between patients and donors is an exploratory endpoint.DiscussionThe FMT post-treatment used in this study is an oral alginate drink that is easily accepted by patients. If the regimen achieves the desired results, it can further improve the A-FMT regimen and provide evidence for clinical practice guidelines for UC.Clinical Trial Registrationhttps://jrct.niph.go.jp/latest-detail/jRCTs031200103, identifier: jRCTs031200103.
Peripheral Neutrophils-Derived Matrix Metallopeptidase-9 Induces Postoperative Cognitive Dysfunction in Aged Mice
Authors: Huang Lili , Tian Weitian , Chen Xuemei , Xu Huan , Dai Wanbing , Zhang Yizhe , Wu Xiaodan , Yu Weifeng , Tian Jie , Su Diansan 
Published: February 2022

BackgroundAging is one of the most important risk factors of postoperative cognitive dysfunction (POCD); however, the mechanisms are still not completely understood. In this study, we explore the roles of matrix metalloproteinase-9 (MMP-9) in aged mice with POCD.MethodsAppendectomy was performed in 18-month-old C57BL/6 and MMP-9–/–mice under anesthesia to establish the POCD model. Learning and memory were assessed using the Morris water maze (MWM) or Barnes maze. Protein expression of MMP-9 was measured by Western blotting or enzyme-linked immunosorbent assay (ELISA). To explore the role of neutrophils-derived MMP-9 in POCD, we treated mice with anti-Gr-1 monoclonal antibody to deplete peripheral neutrophils. And the percentage of neutrophils and other leukocytes were detected by flow cytometry. We further used sodium fluorescein (NaFlu) to evaluate the blood–brain barrier (BBB) permeability.ResultsThe spatial learning and memory ability was injured, and expression of MMP-9 increased in both plasma and the hippocampus after anesthesia/surgery. However, cognitive dysfunction was alleviated in both MMP-9–/–and peripheral neutrophils-depleted mice. The permeability of BBB was increased after anesthesia/surgery while recused by anti-Gr-1 antibody administration.ConclusionThese findings suggest that peripheral neutrophils-derived MMP-9 could lead to POCD of aged mice through increasing the BBB permeability.
The Clinical Characteristics of New-Onset Epilepsy in the Elderly and Risk Factors for Treatment Outcomes of Antiseizure Medications
Authors: Qi Jing , Liu Xiao , Xu Na , Wang Qun 
Published: February 2022

ObjectiveTo describe the clinical characteristics of elderly patients with new-onset epilepsy in a Class A tertiary comprehensive hospital in north China and evaluate the treatment outcomes of antiseizure medications (ASMs). This study focuses on investigating the factors affecting the treatment outcomes, guiding the drug treatment, and judging the prognosis of elderly epilepsy patients.MethodsWe included patients aged 60 years or older at the time of their first seizure between January 2014 and August 2020. Demographic characteristics, effects of ASM, and the proportion of 1-year and long-term seizure freedom were reported. The univariate analysis and binary logistic regression were used to identify factors potentially influencing treatment outcomes.ResultsA total of 326 patients (median age 65 years, 67.2% men) were included. Moreover, 185 (56.7%) patients who received the first ASM monotherapy achieved 1 year of seizure freedom in the early stage. Compared with structural etiology, unknown etiology was associated with a higher likelihood of early seizure freedom (odds ratio [OR] = 0.545; p &lt; 0.05). Conversely, comorbid intracranial malignant tumors, taking carbamazepine (CBZ), and sodium valproate (VPA) were associated with a lower likelihood of seizure freedom (OR = 3.527 vs. 6.550 vs. 8.829; p &lt; 0.05). At long-term follow-up, 263 (80.6%) patients achieved seizure freedom, with 79.8% on monotherapy.ConclusionsElderly patients with new-onset epilepsy responded well to the initial ASMs treatment. Patients with intracranial malignant tumors and prescribed VPA and CBZ were less likely to achieve early seizure freedom, while those with unknown etiology had higher probabilities of achieving early seizure freedom than those with structural etiology.
Systematic Review: Sleep Disorders Based on Objective Data in Children and Adolescents Treated for a Brain Tumor
Authors: Helligsoe Anne Sophie Lind , Weile Kathrine Synne , Kenborg Line , Henriksen Louise Tram , Lassen-Ramshad Yasmin , Amidi Ali , Wu Lisa Maria , Winther Jeanette Falck , Pickering Line , Mathiasen René 
Published: February 2022

BackgroundTumors of the central nervous system (CNS) are the most common solid childhood malignancy. Over the last decades, treatment developments have strongly contributed to the improved overall 5-year survival rate, which is now approaching 75%. However, children now face significant long-term morbidity with late-effects including sleep disorders that may have detrimental impact on everyday functioning and quality of life. The aims of this study were to (1) describe the symptoms that lead to polysomnographic evaluation; (2) describe the nature of sleep disorders diagnosed in survivors of childhood CNS tumor using polysomnography (PSG); and (3) explore the association between tumor location and diagnosed sleep disorder.MethodsAn extensive literature search following the Preferred Reporting Items for Systematic Review and Meta-Analysis guidelines (PRISMA) was conducted. Inclusion criteria were children and adolescents diagnosed with a CNS tumor age &lt;20 years having a PSG performed after end of tumor treatment. The primary outcome was sleep disorder confirmed by PSG.ResultsOf the 1,658 studies identified, 11 met the inclusion criteria. All the included articles were appraised for quality and included in the analysis. Analyses indicated that sleep disorders commonly occur among childhood CNS tumor survivors. Symptoms prior to referral for PSG were excessive daytime sleepiness (EDS), fatigue, irregular breathing during sleep and snoring. The most common sleep disorders diagnosed were sleep-related breathing disorders (i.e., obstructive sleep apnea) and central disorders of hypersomnolence (i.e., narcolepsy).ConclusionOur findings point to the potential benefit of systematically registering sleep disorder symptoms among CNS tumor patients together with tumor type and treatment information, so that at-risk patients can be identified early. Moreover, future rigorous and larger scale controlled observational studies that include possible modifiable confounders of sleep disorders such as fatigue and obesity are warranted.Clinical Trial Registrationhttps://www.crd.york.ac.uk/prospero/display_record.php?ID=CRD42021243866, identifier [CRD42021243866].
Case Report: A Novel KMT2E Splice Site Variant as a Cause of O'Donnell-Luria-Rodan Syndrome in a Male Patient
Authors: Cao Zixuan , Wang Chunli , Chen Jing , Guo Hu , Wu Chunfeng , Zhang Gang , Ding Le 
Published: February 2022

BackgroundO'Donnell-Luria-Rodan (ODLURO) syndrome is an autosomal dominant systemic disorder characterized by global developmental delay caused by mutations in the KMT2E gene. The aim of this study was to investigate the role of KMT2E mutations as a cause of ODLURO syndrome in a Chinese boy.MethodsWe reported the clinical course of a Chinese boy who was diagnosed with ODLURO syndrome by the whole exome sequencing. We extracted genomic DNA of the proband and parents, gene variations were screened using whole-exome sequencing, followed by validation using direct Sanger sequencing. The effect of mRNA splicing variants were analyzed through a minigene splice assay and in vitro reverse transcription PCR (RT-PCR).ResultsThe proband presented with recurrent seizures and developmental delay. Using genetic analysis, we identified that the proband carried a de novo heterozygous splicing variant (c.1248+1G&gt;T) in the KMT2E gene. In vivo transcript analysis showed that the proband did not carry any KMT2E mRNA transcript, while a specific exon11-exon13 (440 bp) transcript was detected in the unaffected parents. The in vitro minigene splice assay conducted in HEK293 cells confirmed that the c.1248+1G&gt;T variant resulted in exon 12 skipping, which in turn caused an alteration in KMT2E mRNA splicing. The mutant transcript created a premature stop codon at the 378 amino acid position that could have been caused nonsense-mediated mRNA decay (NMD).ConclusionWe verified the pathogenic effect of the KMT2E c.1248+1G&gt;T splicing variant, which disturbed normal mRNA splicing and caused mRNA decay. Our findings suggest that splice variants play an important role in the molecular basis of ODLURO, and that careful molecular profiling of these patients could play an essential role in tailoring of personalized treatment options soon.