bluuebunny/crossref_metadata_2025 huggingface dataset:
Parental Hopes and Understandings of the Value of Prenatal Diagnostic Genomic Sequencing: A Qualitative Analysis
Authors: Outram Simon M. , Brown Julia E. H. , Zamora Astrid N. , Sahin-Hodoglugil Nuriye , Ackerman Sara L.
Published: July 2022

Objective: To provide qualitative empirical data on parental expectations of diagnostic prenatal genomic sequencing and the value of the results to families.

Methods: We interviewed 15 families—mothers and/or fathers—who had had prenatal genomic sequencing about their expectations and their respective evaluations of the benefits of genomic sequencing.

Results: Families’ hopes for genetic sequencing clustered around three themes: hoping to identify the cause of the fetal anomaly in a terminated pregnancy; hopes for guidance as to the likely outcome of current pregnancy; and hopes for information to support future family planning. In addition, hopes were discussed in terms of the potential for results to be beneficial in acquiring greater knowledge, while at the same time recognizing that new knowledge may raise more questions. Assessment of the value of sequencing largely mirrored these expectations when positive results seen. Negative results can also be seen as valuable in ruling out a genetic cause and in providing certainty that families had done everything that they could to know about the cause of fetal demise.

Conclusion: It would appear that with guidance from genetic counsellors, families were largely able to navigate the many uncertainties of prenatal genomic sequencing and thus see themselves as benefitting from sequencing. However, support structures are essential to guide them through their expectations and interpretations of results to minimize possible harms. Engaging in the process of genomic sequencing was seen as beneficial in of itself to families who would otherwise be left without any options to seek diagnostic answers.
Prognostic Model and Nomogram Construction and Validation With an Autophagy-Related Gene Signature in Low-Grade Gliomas
Authors: Li Xinrui , Huang Zhiyuan , Zhu Lei , Yu Fei , Feng Minghao , Gu Aiqin , Jiang Jianxin , Wang Guangxue , Huang Dongya
Published: July 2022

Background: Autophagy plays a vital role in cancer development. However, the prognostic value of autophagy-related genes (ARGs) in low-grade gliomas (LGG) is unclear. This research aimed to investigate whether ARGs correlated with overall survival (OS) in LGG patients.

Methods: RNA-sequencing data were obtained from The Cancer Genome Atlas (TCGA) TARGET GTEx database. Gene Ontology and Kyoto Encyclopedia of Genes and Genomes enrichment analysis of ARGs were performed by the “clusterprofile” R package. Cox regression with the wald χ2 test was employed to identify prognostic significant ARGs. Next, the receiver operator characteristic curves were established to evaluate the feasibility of risk score (riskscore=h0(t)exp(∑j=1nCoefj×Xj)) and other clinical risk factors to predict prognosis. A nomogram was constructed. Correlations between clinical features and ARGs were further verified by a t-test or Kruskal–Wallis test. In addition, the correlations between autophagy and immune cells were assessed through the single-sample gene set enrichment analysis (ssGSEA) and tumor immune estimation resource database. Last, the prediction model was verified by LGG data downloaded from the Chinese Glioma Genome Atlas (CGGA) database.

Results: Overall, 35 DE-ARGs were identified. Functional enrichment analysis showed that these genes were mainly related to oxidative stress and regulation of autophagy. Nine ARGs (BAX, BIRC5, CFLAR, DIRAS3, GRID2, MAPK9, MYC, PTK6, and TP53) were significantly associated with OS. Age (Hazard ratio (HR) = 1.063, 95% CI: 1.046–1.080), grade (HR = 3.412, 95% CI: 2.164–5.379), histological type (HR = 0.556, 95% CI: 0.346–0.893), and risk score (HR = 1.135, 95% CI: 1.104–1.167) were independent prognostic risk factors (all p < 0.05). In addition, BIRC5, CFLAR, DIRAS3, TP53, and risk scores were found to correlate significantly with age and tumor grade (all p < 0.05). Immune cell enrichment analysis demonstrated that the types of immune cells and their expression levels in the high-risk group were significantly different from those in the low-risk group (all p < 0.05). A prognostic nomogram was constructed to predict 1-, 3-, and 5-year survival, and the prognostic value of sorted ARGs were verified in the CGGA database and clinical samples.

Conclusion: Our findings suggest that the 9 DE-ARGs’ risk score model could serve as diagnostic and prognostic biomarkers. The prognostic nomograms could be useful for individualized survival prediction and improved treatment strategies.
Functional and clinical analysis of five EDA variants associated with ectodermal dysplasia but with a hard-to-predict significance
Authors: Gökdere Sare , Schneider Holm , Hehr Ute , Willen Laure , Schneider Pascal , Maier-Wohlfart Sigrun
Published: July 2022

Deficiency of ectodysplasin A1 (EDA1) due to variants of the gene EDA causes X-linked hypohidrotic ectodermal dysplasia (XLHED), a rare genetic condition characterized by abnormal development of ectodermal structures. XLHED is defined by the triad of hypotrichosis, hypo- or anhidrosis, and hypo- or anodontia. Anhidrosis may lead to life-threatening hyperthermia. A definite genetic diagnosis is, thus, important for the patients’ management and amenability to a novel prenatal treatment option. Here, we describe five familial EDA variants segregating with the disease in three families, for which different prediction tools yielded discordant results with respect to their significance. Functional properties in vitro and levels of circulating serum EDA were compared with phenotypic data on skin, hair, eyes, teeth, and sweat glands. EDA1-Gly176Val, although associated with relevant hypohidrosis, still bound to the EDA receptor (EDAR). Subjects with EDA1-Pro389LeufsX27, -Ter392GlnfsX30, -Ser125Cys, and an EDA1 splice variant (c.924+7A > G) showed complete absence of pilocarpine-induced sweating. EDA1-Pro389LeufsX27 was incapable of binding to EDAR and undetectable in serum. EDA1-Ter392GlnfsX30, produced in much lower amounts than wild-type EDA1, could still bind to EDAR, and so did EDA1-Ser125Cys that was, however, undetectable in serum. The EDA splice variant c.924+7A > G resulted experimentally in a mix of wild-type EDA1 and EDA molecules truncated in the middle of the receptor-binding domain, with reduced EDA serum concentration. Thus, in vitro assays reflected the clinical phenotype in two of these difficult cases, but underestimated it in three others. Absence of circulating EDA seems to predict the full-blown phenotype of XLHED, while residual EDA levels may also be found in anhidrotic patients. This indicates that unborn subjects carrying variants of uncertain significance could benefit from an upcoming prenatal medical treatment even if circulating EDA levels or tests in vitro suggest residual EDA1 activity.
Immunosenescence: A Critical Factor Associated With Organ Injury After Sepsis
Authors: Lu Xuan , Yang Yun-Mei , Lu Yuan-Qiang
Published: July 2022

Progressive immune dysfunction associated with aging is known as immunosenescence. The age-related deterioration of immune function is accompanied by chronic inflammation and microenvironment changes. Immunosenescence can affect both innate and acquired immunity. Sepsis is a systemic inflammatory response that affects parenchymal organs, such as the respiratory system, cardiovascular system, liver, urinary system, and central nervous system, according to the sequential organ failure assessment (SOFA). The initial immune response is characterized by an excess release of inflammatory factors, followed by persistent immune paralysis. Moreover, immunosenescence was found to complement the severity of the immune disorder following sepsis. Furthermore, the immune characteristics associated with sepsis include lymphocytopenia, thymus degeneration, and immunosuppressive cell proliferation, which are very similar to the characteristics of immunosenescence. Therefore, an in-depth understanding of immunosenescence after sepsis and its subsequent effects on the organs may contribute to the development of promising therapeutic strategies. This paper focuses on the characteristics of immunosenescence after sepsis and rigorously analyzes the possible underlying mechanism of action. Based on several recent studies, we summarized the relationship between immunosenescence and sepsis-related organs. We believe that the association between immunosenescence and parenchymal organs might be able to explain the delayed consequences associated with sepsis.
Secondary Immune Deficiency and Primary Immune Deficiency Crossovers: Hematological Malignancies and Autoimmune Diseases
Authors: Ballow Mark , Sánchez-Ramón Silvia , Walter Jolan E.
Published: July 2022

Primary immunodeficiencies (PIDs), a heterogenous group of inborn errors of immunity, are predetermined at birth but may evolve with age, leading to a variable clinical and laboratory presentation. In contrast, secondary immunodeficiencies (SIDs) are acquired declines of immune cell counts and or/function. The most common type of SID is a decreased antibody level occurring as a consequence of extrinsic influences, such as an underlying condition or a side effect of some medications used to treat hematological malignancies and autoimmune disorders. Paradoxically, immune deficiencies initially attributed to secondary causes may partly be due to an underlying PID. Therefore, in the era of immune-modulating biologicals, distinguishing between primary and secondary antibody deficiencies is of great importance. It can be difficult to unravel the relationship between PID, SID and hematological malignancy or autoimmunity in the clinical setting. This review explores SID and PID crossovers and discusses challenges to diagnosis and treatment strategies. The case of an immunodeficient patient with follicular lymphoma treated with rituximab illustrates how SID in the setting of hematological cancer can mask an underlying PID, and highlights the importance of screening such patients. The risk of hematological cancer is increased in PID: for example, lymphomas in PID may be driven by infections such as Epstein-Barr virus, and germline mutations associated with PID are enriched among patients with diffuse large B-cell lymphoma. Clues suggesting an increased risk of hematological malignancy in patients with common variable immune deficiency (CVID) are provided, as well as pointers for distinguishing PID versus SID in lymphoma patients. Two cases of patients with autoimmune disorders illustrate how an apparent rituximab-induced antibody deficiency can be connected to an underlying PID. We highlight that PID is increasingly recognized among patients with autoimmune cytopenias, and provide guidance on how to identify PID and distinguish it from SID in such patients. Overall, healthcare professionals encountering patients with malignancy and/or autoimmunity who have post-treatment complications of antibody deficiencies or other immune abnormalities need to be aware of the possibility of PID or SID and how to differentiate them.
Sciatic–Vagal Nerve Stimulation by Electroacupuncture Alleviates Inflammatory Arthritis in Lyme Disease-Susceptible C3H Mice
Authors: Akoolo Lavoisier , Djokic Vitomir , Rocha Sandra C. , Ulloa Luis , Parveen Nikhat
Published: July 2022

Lyme disease is caused by Borrelia burgdorferi, and the pathogenesis of the disease is complex with both bacterial and host factors contributing to inflammatory responses. Lyme disease affects different organs including joints and results in arthritis. Immune responses stimulated by B. burgdorferi through toll-like receptors cause infiltration of leukocytes, which produce inflammatory cytokines and facilitate spirochete clearance. However, arthritic manifestations and chronic fatigue syndrome-like symptoms persist long after completion of antibiotic treatment regimens in a significant number of patients. To counter the effects of inflammation, treatment by non-steroidal anti-inflammatory drugs, hydroxychloroquine, or synovectomy to eradicate inflammatory arthritis in the involved joint could be employed; however, they often have long-term consequences. Acupuncture has been used for a long time in Asian medicine to diminish pain during various ailments, but the effects and its mechanism are just beginning to be explored. Control of inflammation by neuronal stimulation has been exploited as a systemic therapeutic intervention to arrest inflammatory processes. Our objective was to determine whether activation of the sciatic–vagal network by electroacupuncture on ST36 acupoint, which is used to control systemic inflammation in experimental models of infectious disorders such as endotoxemia, can also alleviate Lyme arthritis symptoms in mice. This aim was further strengthened by the reports that sciatic–vagal neuronal network stimulation can lead to dopamine production in the adrenal medulla and moderate the production of inflammatory factors. We first assessed whether electroacupuncture affects spirochete colonization to attenuate Lyme arthritis. Interestingly, bioluminescent B. burgdorferi burden detected by live imaging and qPCR were similar in electroacupuncture- and mock-treated mice, while electroacupuncture induced a lasting anti-inflammatory effect on mice. Despite the discontinuation of treatment at 2 weeks, the simultaneous decrease in neutrophils in the joints and inflammatory cytokine levels throughout the body at 4 weeks suggests a systemic and persistent effect of electroacupuncture that attenuates Lyme arthritis. Our results suggest that electroacupuncture-mediated anti-inflammatory responses could offer promising healthcare benefits in patients suffering from long-term Lyme disease manifestations.
Stirring the Deep, Disentangling the Complexity: Report on the Third Species of Thermochiton (Mollusca: Polyplacophora) From Haima Cold Seeps
Authors: Wang Hao , Liu Huijie , Wang Xiaowei , Zhang Junlong , Sirenko Boris I. , Liu Chuanyu , Dong Dong , Li Xinzheng
Published: July 2022

This study documents a new deep-sea chiton from the Haima cold seeps.Thermochiton xui. nov. is the third species of the genusThermochitonand the first occurrence of this genus in the South China Sea. This species is identified by its morphological characteristics and the molecular sequence of aThermochitonspecies is reported for the first time. The placement of the new species is determined in the phylogenetic tree of Ischnochitonidae by Maximum Likelihood (ML) and Bayesian inference (BI) methods, based on the sequences of the mitochondrial cytochrome c oxidase subunit I (COI), 16S ribosomal DNA (16S), and nuclear 28S ribosomal DNA (28S) gene regions. Bayesian evolutionary analysis with an uncorrelated relaxed clock approach indicated that this new species is estimated to have diverged from its most closely related shallow-water ischnochitonid taxa 5.10–10.07 million years ago in the Late Miocene. A regional ocean general circulation model was used to estimate the potential dispersal ability of the three species of Thermochiton. Because it is highly unlikely for one species to have spread between the northwest and southwest Pacific to the localities in which this genus has been found to date, we propose that ‘stepping-stone’ habitats and/or ‘bridge species’ were involved in the dispersal and evolution of these cold-seep endemic chitons.

The ZooBank Life Science Identifier (LSID) for this publication is: urn:lsid:zoobank.org:pub:AD93E4BC-2977-405E-B681-D956C5C66D83. And the ISID for Thermochiton xui sp. nov. is: urn:lsid:zoobank.org:act:0C75D2E3-F30E-4970-9BC2-3363B397720C.
The Nitrogen Removal Ability of Salt Marsh Improved After Grazing Prohibition
Authors: Li Niu , Nie Ming , Wu Ming , Wu Jihua
Published: July 2022

Grazing prohibition has been used for some conservation purposes in salt marshes. However, the impact of this measure on microbe-mediated key nitrogen removal processes remains poorly understood. Therefore, this study assessed the impact of grazing prohibition on potential rates of nitrification and denitrification under short- and long-term grazing prohibition in high and middle elevation of the Dongtan salt marsh on Chongming Island, China. Compared with short-term grazing prohibition, we found that long-term grazing prohibition significantly increased nitrification and denitrification (except for nitrification in the high marsh), which indicates that the nitrogen removal ability of the salt marsh was improved along with the grazing prohibition time. Furthermore, we found that nitrification and denitrification in the high marsh were largely affected by NH4+ and soil moisture, respectively. Nitrification and denitrification in the middle marsh were mainly controlled by soil organic carbon (SOC) and nirS gene abundances, respectively. Our results indicate that the implementation of scientific and reasonable grazing prohibition policies in salt marshes has great potential to restore their ecosystem functions, maintain their ecosystem balance and realize their sustainable development.
Mitochondrial Oxygenation During Cardiopulmonary Bypass: A Pilot Study
Authors: Harms Floor A. , Ubbink Rinse , de Wijs Calvin J. , Ligtenberg Max P. , ter Horst Maarten , Mik Egbert G.
Published: July 2022

Objective

Adequate oxygenation is essential for the preservation of organ function during cardiac surgery and cardiopulmonary bypass (CPB). Both hypoxia and hyperoxia result in undesired outcomes, and a narrow window for optimal oxygenation exists. Current perioperative monitoring techniques are not always sufficient to monitor adequate oxygenation. The non-invasive COMET®monitor could be a tool to monitor oxygenation by measuring the cutaneous mitochondrial oxygen tension (mitoPO2). This pilot study examines the feasibility of cutaneous mitoPO2measurements during cardiothoracic procedures. Cutaneous mitoPO2will be compared to tissue oxygenation (StO2) as measured by near-infrared spectroscopy.

Design and Method

This single-center observational study examined 41 cardiac surgery patients requiring CPB. Preoperatively, patients received a 5-aminolevulinic acid plaster on the upper arm to enable mitoPO2measurements. After induction of anesthesia, both cutaneous mitoPO2and StO2were measured throughout the procedure. The patients were observed until discharge for the development of acute kidney insufficiency (AKI).

Results

Cutaneous mitoPO2was successfully measured in all patients and was 63.5 [40.0–74.8] mmHg at the surgery start and decreased significantly (p< 0.01) to 36.4 [18.4–56.0] mmHg by the end of the CPB run. StO2at the surgery start was 80.5 [76.8–84.3]% and did not change significantly. Cross-clamping of the aorta and the switch to non-pulsatile flow resulted in a median cutaneous mitoPO2decrease of 7 mmHg (p< 0.01). The cessation of the aortic cross-clamping period resulted in an increase of 4 mmHg (p< 0.01). Totally, four patients developed AKI and had a lower preoperative eGFR of 52 vs. 81 ml/min in the non-AKI group. The AKI group spent 32% of the operation time with a cutaneous mitoPO2value under 20 mmHg as compared to 8% in the non-AKI group.

Conclusion

This pilot study illustrated the feasibility of measuring cutaneous mitoPO2using the COMET®monitor during cardiothoracic procedures. Moreover, in contrast to StO2, mitoPO2decreased significantly with the increasing CPB run time. Cutaneous mitoPO2also significantly decreased during the aortic cross-clamping period and increased upon the release of the clamp, but StO2did not. This emphasized the sensitivity of cutaneous mitoPO2to detect circulatory and microvascular changes.
Development and implementation of the AIDA international registry for patients with Schnitzler's syndrome
Authors: Sota Jurgen , Vitale Antonio , Więsik-Szewczyk Ewa , Frassi Micol , Lopalco Giuseppe , Emmi Giacomo , Govoni Marcello , de Paulis Amato , Marino Achille , Gidaro Antonio , Monti Sara , Opris-Belinski Daniela , Pereira Rosa Maria R. , Jahnz-Rózyk Karina , Gaggiano Carla , Crisafulli Francesca , Iannone Florenzo , Mattioli Irene , Ruffilli Francesca , Mormile Ilaria , Rybak Katarzyna , Caggiano Valeria , Airò Paolo , Tufan Abdurrahman , Gentileschi Stefano , Ragab Gaafar , Almaghlouth Ibrahim A. , Aboul-Fotouh Khalil Adham , Cattalini Marco , La Torre Francesco , Tarsia Maria , Giardini Henrique A. Mayrink , Ali Saad Moustafa , Bocchia Monica , Caroni Federico , Giani Teresa , Cinotti Elisa , Ruscitti Piero , Rubegni Pietro , Dagostin Marília A. , Frediani Bruno , Guler Aslihan Avanoglu , Della Casa Francesca , Maggio Maria Cristina , Recke Andreas , von Bubnoff Dagmar , Krause Karoline , Balistreri Alberto , Fabiani Claudia , Rigante Donato , Cantarini Luca
Published: July 2022

Objective

The present paper describes the design, development, and implementation of the AutoInflammatory Disease Alliance (AIDA) International Registry specifically dedicated to patients with Schnitzler's syndrome.

Methods

This is a clinical physician-driven, population- and electronic-based registry implemented for the retrospective and prospective collection of real-life data from patients with Schnitzler's syndrome; the registry is based on the Research Electronic Data Capture (REDCap) tool, which is designed to collect standardized information for clinical research, and has been realized to change over time according to future scientific acquisitions and potentially communicate with other existing or future similar registries.

Results

Since its launch, 113 centers from 23 countries in 4 continents have been involved. Fifty-seven have already obtained the approval from their local Ethics Committees. The platform counts 324 users (114 Principal Investigators, 205 Site Investigators, 2 Lead Investigators, and 3 data managers) at current (April 28th, 2022). The registry collects baseline and follow-up data using 3,924 fields organized into 25 instruments, including patient's demographics, history, clinical manifestations and symptoms, trigger/risk factors, laboratory, instrumental exams, therapies, socioeconomic information, and healthcare access.

Conclusions

This International Registry for patients with Schnitzler's syndrome facilitates standardized data collection, enabling international collaborative projects through data sharing and dissemination of knowledge; in turn, it will shed light into many blind spots characterizing this complex autoinflammatory disorder.
Ubiquity and Diversity of Cold Adapted Denitrifying Bacteria Isolated From Diverse Antarctic Ecosystems
Authors: Cabezas Angela , Azziz Gastón , Bovio-Winkler Patricia , Fuentes Laura , Braga Lucía , Wenzel Jorge , Sabaris Silvia , Tarlera Silvana , Etchebehere Claudia
Published: July 2022

Nitrogen cycle has been poorly investigated in Antarctic ecosystems. In particular, how extreme conditions of low temperature, dryness, and high radiation select the microorganisms involved in the cycle is not yet understood. Denitrification is an important step in the nitrogen cycle in which nitrate is reduced stepwise to the gases NO, N2O, and N2. Denitrification is carried out by a wide group of microorganisms spread in the phylogenetic tree. The aim of this work was to isolate and characterize denitrifying bacteria present in different cold environments from Antarctica. Bacterial isolates were obtained from lake, meltwater, sea, glacier ice, ornithogenic soil, and penguin feces samples from King George Island, Fildes peninsula in the Antarctic. Samples were taken during the deicing season in five sampling campaigns. From all the samples we were able to isolate denitrifying strains. A total of 199 bacterial isolates with the capacity to grow in anaerobic mineral media reducing nitrate at 4°C were obtained. The characterization of the isolates by 16S rRNA gene sequence analysis showed a high predominance of the genus Pseudomonas, followed by Janthinobacterium, Flavobacterium, Psychrobacter, and Yersinia. Other minor genera detected were Cryobacterium, Iodobacter, Kaistella, and Carnobacterium. The capacity to denitrify was not previously described for most of the bacteria related to our isolates and in many of them denitrifying genes were not present suggesting the presence of new genes in this extreme environment. Our work demonstrates the ubiquity of denitrification in the Maritime Antarctica and gives important information linking denitrification at cold temperature with taxa in an unequivocal way.
Coexpressing the Signal Peptide of Vip3A and the Trigger Factor of Bacillus thuringiensis Enhances the Production Yield and Solubility of eGFP in Escherichia coli
Authors: Gao Jianhua , Ouyang Chunping , Zhao Juanli , Han Yan , Guo Qinghua , Liu Xuan , Zhang Tianjiao , Duan Ming , Wang Xingchun , Xu Chao
Published: July 2022

Many fusion tags have been developed to improve the expression of recombinant proteins. Besides the translocation of cargo proteins, the signal peptides (SPs) of some secretory proteins, such as the ssTorA and Iasp, have been used as an inclusion body tag (IB-tag) or the recombinant expression enhancer in the cytosol of E. coli. In this study, the approach to utilize the SP of Vip3A (Vasp) from Bacillus thuringiensis (Bt) as a fusion tag was investigated. The results showed that either the Vasp or its predicted N- (VN), H- (VH), and C-regions (VC), as well as their combinations (VNH, VNC, and VHC), were able to significantly enhance the production yield of eGFP. However, the hydrophobic region of the Vasp (VH and/or VC) made more than half of the eGFP molecules aggregated (VeGFP, VHeGFP, VCeGFP, VNHeGFP, VNCeGFP, and VHCeGFP). Interestingly, the addition of the Bt trigger factor (BtTF) led to the neutralization of the negative impact and solubilization of the fusion proteins. Therefore, the coexpression of Vasp or its derivates with the chaperone BtTF could be a novel dual-enhancement system for the production yield and solubility of recombinant proteins. Notably, EcTF was unable to impact the solubility of Vasp or its derivates guided proteins, suggesting its different specificities on the recognition or interaction. Additionally, this study also suggested that the translocation of Vip3 in the host cell would be regulated by the BtTF-involved model.
Host Species Influence the Gut Microbiota of Endemic Cold-Water Fish in Upper Yangtze River
Authors: Xu Liangliang , Xiang Peng , Zhang Baowen , Yang Kun , Liu Fenglin , Wang Zesong , Jin Yanjun , Deng Longjun , Gan Weixiong , Song Zhaobin
Published: July 2022

The fish gut microbiome plays an important role in nutrition absorption and energy metabolism. Studying the gut microbes of cold-water fish is important to understand the dietary adaptation strategies in extreme environments. In this study, the gut samples of Schizothorax wangchiachii (SW, herbivorous), Schizothorax kozlovi (SK, omnivorous), and Percocypris pingi (PP, carnivorous) in the upper Yangtze River were collected, and we sequenced 16S rRNA amplicon to study the potential relationship between gut microbes and host species. The results showed that gut microbial composition and diversity were significantly different between the three cold-water fishes. These fishes had different key taxa in their gut microbes, including bacteria involved in the breakdown of food (e.g., Cetobacterium, Aeromonas, and Clostridium sensu stricto 10). The highest alpha diversity indices (e.g., Chao 1 index) were identified in the herbivore (SW), followed by the carnivore (PP), and the lowest in the omnivore (SK). Non-metric multidimensional scaling (NMDS) results revealed that the gut microbial community of these species was different between host species. The neutral community model (NCM) showed that the microbial community structure of SW was shaped by stochastic processes, and the highest species dispersal was found in SW, followed by PP, and the lowest in SK. The results of niche breadth agreed with these findings. Our results demonstrated that host species influenced the gut microbiome composition, diversity, and microbial community assembly processes of the three cold-water fishes. These findings implied that the variation of gut microbiome composition and function plays a key role in digesting and absorbing nutrients from different foods in cold-water fish.
The Role of Long Non-Coding RNAs in Epithelial-Mesenchymal Transition-Related Signaling Pathways in Prostate Cancer
Authors: Shen Dexin , Peng Hongwei , Xia Caixia , Deng Zhao , Tong Xi , Wang Gang , Qian Kaiyu
Published: July 2022

Prostate cancer (PCa) is one of the most common male malignancies with frequent remote invasion and metastasis, leading to high mortality. Epithelial-mesenchymal transition (EMT) is a fundamental process in embryonic development and plays a key role in tumor proliferation, invasion and metastasis. Numerous long non-coding RNAs (lncRNAs) could regulate the occurrence and development of EMT through various complex molecular mechanisms involving multiple signaling pathways in PCa. Given the importance of EMT and lncRNAs in the progression of tumor metastasis, we recapitulate the research progress of EMT-related signaling pathways regulated by lncRNAs in PCa, including AR signaling, STAT3 signaling, Wnt/β-catenin signaling, PTEN/PI3K/AKT signaling, TGF-β/Smad and NF-κB signaling pathways. Furthermore, we summarize four modes of how lncRNAs participate in the EMT process of PCa via regulating relevant signaling pathways.
Elevated homocysteine levels, white matter abnormalities and cognitive impairment in patients with late-life depression
Authors: Zhou Huarong , Zhong Xiaomei , Chen Ben , Wang Qiang , Zhang Min , Mai Naikeng , Wu Zhangying , Huang Xingxiao , Chen Xinru , Peng Qi , Ning Yuping
Published: July 2022

Background

Cognitive impairment in late−life depression (LLD) is considered to be caused by neurodegenerative changes. Elevated homocysteine (Hcy) levels may be linked to cognitive abnormalities associated with LLD. The important role of white matter (WM) damage in cognitive impairment and pathogenesis in patients with LLD has been widely reported. However, no research has explored the interrelationships of these features in patients with LLD.

Objective

The goal of the study was to examine the interrelationship between Hcy levels, cognition, and variations in WM microstructure detected by diffusion tensor imaging (DTI) in patients with LLD.

Methods

We recruited 89 healthy controls (HCs) and 113 patients with LLD; then, we measured the plasma Hcy levels of participants in both groups. All individuals performed a battery of neuropsychological tests to measure cognitive ability. Seventy-four patients with LLD and 68 HCs experienced a DTI magnetic resonance imaging (MRI) scan.

Results

Patients with LLD showed significantly lower fractional anisotropy (FA) values in the bilateral inferior longitudinal fasciculus than those of healthy participants. Only in LLD patients was Hcy concentration inversely associated to FA values in the forceps minor. Finally, multiple regression analyses showed that an interaction between Hcy levels and FA values in the right cingulum of the cingulate cortex and right inferior longitudinal fasciculus were independent contributors to the executive function of patients with LLD.

Conclusion

Our results highlight the complex interplay between elevated homocysteine levels and WM abnormalities in the pathophysiology of LLD-related cognitive impairment, consistent with the neurodegeneration hypothesis.
Proposition of Cutoff Points for Anthropometric Indicators to Identify High Blood Pressure in Adolescents
Authors: Borges Leandro Lima , Gerage Aline Mendes , Monteiro Luciana Zaranza , Ulbrich Anderson Zampier , Silva Diego Augusto Santos
Published: July 2022

Aim

To propose cutoff points for anthropometric indicators for high blood pressure (HBP) screening in adolescents and to identify, among these indicators, those more accurately for boys and girls.

Methods

This cross-sectional study was carried out in the city of São José, SC, Brazil with 634 adolescents aged 14 to 19 years. Blood pressure levels were measured using a digital oscillometric sphygmomanometer and adolescents were classified as having HBP or not. Anthropometric indicators were calculated based on anthropometric measurements such as body mass (BM), height, waist circumference (WC), hip circumference (HC) and triceps, subscapularis, suprailiac, and midcalf skinfold thickness (SF). The Receiver Operating Characteristic Curve (ROC) was used to analyze the predictive capacity of anthropometric indicators in the identification of HBP.

Results

Higher values of Area Under the Curve (AUC) were for the anthropometric indicators BM (0.67; 95%CI: 0.62–0.72), body mass index (BMI) (0.67; 95%CI: 0.62–0.72), and WC (0.67; 95%CI: 0.62–0.71) for males. For females, no anthropometric indicator had discriminatory power for HBP screening. The cutoff points for the anthropometric indicators with discriminatory power for HBP screening in males were BM > 64.80 Kg, BMI > 21.76 Kg/m2, fat percentage (FP) > 15.75, waist height to ratio (WHtR) > 0.41, WC > 73.00 cm, and HC > 92.25 cm.

Conclusion

Anthropometric indicators of body adiposity had greater discriminatory power of HBP screening in males. For females, caution is suggested because the anthropometric indicators showed AUC values (95%CI) below 0.60.
Postoperative high-density lipoprotein cholesterol level: an independent prognostic factor for gastric cancer
Authors: Li Chenxi , Fu Yan , Li Qiuwen , Yang Xuhui , Wang Wenying , Jin Xin , Bian Lihua , Zhao Hui , Li Donghui , Gao Jie , Du Nan , Peng Liang
Published: July 2022

Objective

The relationship between serum lipids and prognosis of gastric cancer has not been confirmed. Our purpose in the study was to investigate the associations between preoperative and postoperative serum lipids level and prognosis in patients with gastric cancer.

Methods

A retrospective study was performed on 431 patients who received radical (R0) gastrectomy from 2011 to 2013. Preoperative and postoperative serum lipids level were recorded. Clinical-pathological characteristics, oncologic outcomes, disease-free survival (DFS) and overall survival (OS) were collected. The prognostic significance was determined by Kaplan-Meier analysis and Cox proportional hazards regression model.

Results

There was no significant difference in DFS and OS according to preoperative serum lipids level. Regarding postoperative serum lipids level, compared to normal high-density lipoprotein cholesterol (HDL-C), low postoperative HDL-C level indicated a shorter OS (hazard ratio: 1.76, 99% confidence interval: 1.31–2.38; P=0.000) and a shorter DFS (hazard ratio: 2.06, 99% confidence interval: 1.55–2.73; P=0.000). However, other postoperative serum lipid molecules were not associated with DFS and OS.

Conclusion

Postoperative HDL-C might be an independent prognostic factor of gastric cancer.
Chemotherapy-induced functional brain abnormality in colorectal cancer patients: a resting‐state functional magnetic resonance imaging study
Authors: Liu Siwen , Guo Yesong , Ni Jie , Yin Na , Li Chenchen , Pan Xuan , Ma Rong , Wu Jianzhong , Li Shengwei , Li Xiaoyou
Published: July 2022

Introduction

Chemotherapy-induced cognitive impairment (i.e., “chemobrain”) is a common neurotoxic side-effect experienced by many cancer survivors who undergone chemotherapy. However, the central mechanism underlying chemotherapy-related cognitive impairment is still unclear. The purpose of this study was to investigate the changes of intrinsic brain activity and their associations with cognitive impairment in colorectal cancer (CRC) patients after chemotherapy.

Methods

Resting‐state functional magnetic resonance imaging data of 29 CRC patients following chemotherapy and 29 matched healthy controls (HCs) were collected in this study, as well as cognitive test data including Mini Mental State Exam (MMSE), Montreal Cognitive Assessment (MoCA) and Functional Assessment of Cancer Therapy-Cognitive Function (FACT-Cog). The measure of fractional amplitude of low-frequency fluctuation (fALFF) was calculated and compared between groups. The correlations between the fALFF of impaired brain region and cognitive performance were also analyzed.

Results

Compared with HCs, CRC patients following chemotherapy showed decreased fALFF values in the left anterior cingulate gyrus (ACG) and middle frontal gyrus, as well as increased fALFF values in the left superior frontal gyrus (orbital part) and middle occipital gyrus. Moreover, positive associations were identified between fALFF values of the left ACG and the total scores of MMSE, MoCA and FACT-Cog in the patient group.

Conclusion

These findings indicated that CRC patients after chemotherapy had decreased intrinsic brain activity in the left ACG, which might be vulnerable to the neurotoxic side-effect of chemotherapeutic drugs and related to chemotherapy-induced cognitive impairment.
Prognostic Roles of ceRNA Network-Based Signatures in Gastrointestinal Cancers
Authors: Qi Xin , Chen Xingqi , Zhao Yuanchun , Chen Jiajia , Niu Beifang , Shen Bairong
Published: July 2022

Gastrointestinal cancers (GICs) are high-incidence malignant tumors that seriously threaten human health around the world. Their complexity and heterogeneity make the classic staging system insufficient to guide patient management. Recently, competing endogenous RNA (ceRNA) interactions that closely link the function of protein-coding RNAs with that of non-coding RNAs, such as long non-coding RNA (lncRNA) and circular RNA (circRNA), has emerged as a novel molecular mechanism influencing miRNA-mediated gene regulation. Especially, ceRNA networks have proven to be powerful tools for deciphering cancer mechanisms and predicting therapeutic responses at the system level. Moreover, abnormal gene expression is one of the critical breaking events that disturb the stability of ceRNA network, highlighting the role of molecular biomarkers in optimizing cancer management and treatment. Therefore, developing prognostic signatures based on cancer-specific ceRNA network is of great significance for predicting clinical outcome or chemotherapy benefits of GIC patients. We herein introduce the current frontiers of ceRNA crosstalk in relation to their pathological implications and translational potentials in GICs, review the current researches on the prognostic signatures based on lncRNA or circRNA-mediated ceRNA networks in GICs, and highlight the translational implications of ceRNA signatures for GICs management. Furthermore, we summarize the computational approaches for establishing ceRNA network-based prognostic signatures, providing important clues for deciphering GIC biomarkers.
An Emergent Role for Mitochondrial Bioenergetics in the Action of Snake Venom Toxins on Cancer Cells
Authors: Urra Félix A. , Vivas-Ruiz Dan E. , Sanchez Eladio Flores , Araya-Maturana Ramiro
Published: July 2022

Beyond the role of mitochondria in apoptosis initiation/execution, some mitochondrial adaptations support the metastasis and chemoresistance of cancer cells. This highlights mitochondria as a promising target for new anticancer strategies. Emergent evidence suggests that some snake venom toxins, both proteins with enzymatic and non-enzymatic activities, act on the mitochondrial metabolism of cancer cells, exhibiting unique and novel mechanisms that are not yet fully understood. Currently, six toxin classes (L-amino acid oxidases, thrombin-like enzymes, secreted phospholipases A2, three-finger toxins, cysteine-rich secreted proteins, and snake C-type lectin) that alter the mitochondrial bioenergetics have been described. These toxins act through Complex IV activity inhibition, OXPHOS uncoupling, ROS-mediated permeabilization of inner mitochondrial membrane (IMM), IMM reorganization by cardiolipin interaction, and mitochondrial fragmentation with selective migrastatic and cytotoxic effects on cancer cells. Notably, selective internalization and direct action of snake venom toxins on tumor mitochondria can be mediated by cell surface proteins overexpressed in cancer cells (e.g. nucleolin and heparan sulfate proteoglycans) or facilitated by the elevated Δψm of cancer cells compared to that non-tumor cells. In this latter case, selective mitochondrial accumulation, in a Δψm-dependent manner, of compounds linked to cationic snake peptides may be explored as a new anti-cancer drug delivery system. This review analyzes the effect of snake venom toxins on mitochondrial bioenergetics of cancer cells, whose mechanisms of action may offer the opportunity to develop new anticancer drugs based on toxin scaffolds.
Alterations in brain structure associated with trigeminal nerve anatomy in episodic migraine
Authors: Mungoven Tiffani J. , Meylakh Noemi , Macefield Vaughan G. , Macey Paul M. , Henderson Luke A.
Published: July 2022

The pathophysiology of migraine remains to be elucidated. We have recently shown that interictal migraineurs exhibit reduced fractional anisotropy (FA) in the root entry zone of the trigeminal nerve when compared to controls, but it is not known if this altered nerve anatomy is associated with changes within the brainstem or higher cortical brain regions. Diffusion tensor imaging of the brain was used to calculate regional measures of structure, including mean diffusivity (MD), axial diffusivity (AX) and radial diffusivity (RD) in addition to voxel-based morphometry of T1-weighted anatomical images. Linear relationships between trigeminal nerve anatomy (FA) and MD throughout the brainstem and/or higher cortical regions were determined in both controls (n = 31, brainstem; n = 38, wholebrain) and interictal migraineurs (n = 32, brainstem; n = 38, wholebrain). Additionally, within the same brain areas, relationships of AX and RD with nerve FA were determined. We found that in both interictal migraine and control participants, decreasing trigeminal nerve FA was associated with significantly increased MD in brainstem regions including the spinal trigeminal nucleus and midbrain periaqueductal gray matter (PAG), and in higher brain regions such as the hypothalamus, insula, posterior cingulate, primary somatosensory and primary visual (V1) cortices. Whereas, both control and migraineur groups individually displayed significant inverse correlations between nerve FA and MD, in migraineurs this pattern was disrupted in the areas of the PAG and V1, with only the control group displaying a significant linear relationship (PAG controls r = –0.58, p = 0.003; migraineurs r = –0.25, p = 0.17 and V1 controls r = −0.52, p = 0.002; migraineurs r = –0.10, p = 0.55). Contrastingly, we found no gray matter volume changes in brainstem or wholebrain areas. These data show that overall, trigeminal nerve anatomy is significantly related to regional brain structure in both controls and migraineurs. Importantly, the PAG showed a disruption of this relationship in migraineurs suggesting that the anatomy and possibly the function of the PAG is uniquely altered in episodic migraine, which may contribute to altered orofacial pain processing in migraine.
Clinical Manifestations and Complications of Children With COVID-19 Compared to Other Respiratory Viral Infections: A Cohort Inpatient Study From Rio de Janeiro, Brazil
Authors: Pucarelli-Lebreiro Giuliana , Venceslau Marianna Tavares , Cordeiro Catherine Crespo , Maciel Fernanda Queiroz , Anachoreta Thiago Dias , Abreu Thalita Fernandes de , Frota Ana Cristina Cisne , Castiñeiras Terezinha Marta Pereira Pinto , Costa Analucia Mendes da , Lopes Adriana Cristina da Luz , Campos Ludmila Nascimento Rodrigues , Calvano Luiza Maria , Guimaraes Maria Angelica Arpon Marandino , Hofer Cristina Barroso
Published: July 2022

Introduction

The coronavirus disease-2019 (COVID-19) clinical manifestations in children and adolescents are diverse, despite the respiratory condition being the main presentation. Factors such as comorbidities and other respiratory infections may play a role in the initial presentation of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection. This study aims to describe the epidemiological aspects, clinical, and laboratory manifestations of pediatric patients admitted to a tertiary pediatric hospital in Rio de Janeiro, diagnosed with COVID-19, and compare these with other viral conditions during the first year of the SARS-CoV-2 pandemic.

Methods

All patients under 18 years of age that were admitted with upper airway infection were enrolled and followed up for 30 days. The main dependent variable was the laboratorial diagnosis of SARS-CoV-2, and independent variables were studied through logistic regression.

Results

A total of 533 patients were recruited, and 105 had confirmed SARS-CoV-2 infection. Detection of other viruses occurred in 34% of 264 tested participants. Six patients died (two in SARS-CoV-2 infected group). The variables independently associated with COVID-19 were older age (OR = 1.1, 95% CI = 1.0–1.1), lower leukocytes count at entry (OR = 0.9, 95% CI = 0.8–0.9), and contact with suspected case (OR = 1.6, 95% CI = 1.0–2.6). Patients with COVID-19 presented higher odds to be admitted in an intensive care unit (OR = 1.99, 95% CI = 1.08–3.66).

Conclusions

Even during the SARS-CoV-2 pandemic, several other respiratory viruses were present in admitted pediatric patients. Variables associated with COVID-19 infection were older age, lower leukocytes count at entry, and a domiciliary suspect contact. Although patients with COVID-19 were more frequently admitted to ICU, we did not observe higher mortality in this group.
Case report: Localized xanthogranulomatous pyelonephritis in children: A case report and literature review
Authors: Deng Qi-Fei , Chu Han , Peng Bo , Liu Xiang , Cao Yong-Sheng
Published: July 2022

Background

Xanthogranulomatous pyelonephritis (XGPN), which is featured by inflammatory destruction of renal parenchyma and fibrosis of kidney, occurs mainly among adults, sporadically among children and rarely among infants. Recurrent urinary tract infections, kidney stone-induced obstructive nephropathy, malnutrition, abnormal lipid metabolism, hypoimmunity, lymphatic obstruction and congenital urinary abnormalities may all cause XGPN among children. Its primary treatment is radical nephrectomy.

Case description

In this study, we describe a rare case of XGPN in a 7-year-old boy infected with Staphylococcus aureus (S. aureus). The child presented with symptoms including recurrent fever, urine culture negative. The postoperative pathology confirmed XGPN. Besides, partial nephrectomy was performed.

Conclusion

XGPN, as a special type of chronic pyelonephritis, is a rare pyelonephritis requiring surgical treatment. Early diagnosis and treatment are crucial to reducing its morbidity and mortality. Although radical nephrectomy is the primary therapeutic option for patients with XGPN, partial nephrectomy surgery should be considered for focal XGPN, aiming to preserve residual renal function in children as far as possible.
Ezetimibe and Cancer: Is There a Connection?
Authors: Gu Jia , Zhu Neng , Li Hong-Fang , Zhang Chan-Juan , Gong Yong-Zhen , Liao Duan-Fang , Qin Li
Published: July 2022

The high level of serum cholesterol caused by the excessive absorption of cholesterol can lead to hypercholesteremia, thus promoting the occurrence and development of cancer. Ezetimibe is a drug that reduces cholesterol absorption and has been widely used for the treatment of patients with high circulating cholesterol levels for many years. Mechanistically, ezetimibe works by binding to NPC1L1, which is a key mediator of cholesterol absorption. Accumulating data from preclinical models have shown that ezetimibe alone could inhibit the development and progression of cancer through a variety of mechanisms, including anti-angiogenesis, stem cell suppression, anti-inflammation, immune enhancement and anti-proliferation. In the past decade, there has been heated discussion on whether ezetimibe combined with statins will increase the risk of cancer. At present, more and more evidence shows that ezetimibe does not increase the risk of cancers, which supports the role of ezetimibe in anti-cancer. In this review, we discussed the latest progress in the anti-cancer properties of ezetimibe and elucidated its underlying molecular mechanisms. Finally, we highlighted the potential of ezetimibe as a therapeutic agent in future cancer treatment and prevention.