bluuebunny/crossref_metadata_2025 huggingface dataset:
High carrier frequency of pathogenic PATL2 gene mutations predicted in population: a bioinformatics-based approach
Authors: Zhou Hao , Cai Ye-Lan , Luo Qing , Zou Lian , Yin Yong-Xiang , Chen Ying , Xiong Fang
Published: May 2023

Topoisomerase II homologue 2 (PATL2) has been confirmed to be a key gene that contributes to oocyte maturation. However, the allele distribution and carrier frequency of these mutations remain uncharacterized. So a bioinformatics subcategory analysis of PATL2 mutations from outcome data and Single Nucleotide Polymorphism (SNP) databases was conducted. Altogether, the causative PATL2 mutation number detected in patients with oocyte maturation defects in the clinical studies and pathogenic PATL2 mutation sites predicted by software based on the database was approximately 53. The estimated carrier frequency of pathogenic mutation sites was at least 1.14‰ based on the gnomAD and ExAC database, which was approximately 1/877. The highest frequency of mutations detected in the independent patients was c.223-14_223-2del13. The carrier frequency of this mutation in the population was 0.25‰, which may be a potential threat to fertility. Estimated allele and carrier frequency are relatively higher than those predicted previously based on clinical ascertainment. A review of PATL2 mutation lineage identified in 34 patients showed that 53.81%, 9.22% and 14.72% of the oocytes with PATL2 mutations were arrested at the germinal vesicle (GV) stage, metaphase I (MI) stage and first polar body stage, respectively. Oocytes that could develop to the first polar body stage were extremely rare to fertilise, and their ultimate fate was early embryonic arrest. Phenotypic variability is related to the function of the regions and degree of loss of function of PATL2 protein. A 3D protein structure changes predicted by online tools, AlphaFold, showed aberrations at the mutation sites, which may explain partially the function loss. When the mutated and wild-type proteins are not in the same amino acid category, the protein structure will be considerably unstable. The integration of additional mutation sites with phenotypes is helpful in drawing a complete picture of the disease. Bioinformatics analysis of PATL2 mutations will help reveal molecular epidemiological characteristics and provide an important reference for new mutation assessment, genetic counselling and drug research.
Case Report: Optic neuritis as the initial presentation of Orientia tsutsugamushi infection detected by metagenomic next-generation sequencing
Authors: Sun Chuan-bin , Ma Zhiqiong , Liu Zhe
Published: May 2023

Scrub typhus is an acute febrile illness caused by Orientia tsutsugamushi infection, and typically manifested as fever, eschar, lymphadenopathy, rash, and other flu-like signs. Ocular involvement was not uncommon, and mostly occurred at post-fever or recovery stage in scrub typhus cases. We hereby report a case of scrub typhus presenting as unilateral optic neuritis (ON). A 56-year-old man going wild fishing nearly every day complained of a blurred vision and an inferior visual field defect in the right eye two or three days after an insect-bite like shin induration in his left leg. He was diagnosed as ON, and treated with dexamethasone in the local hospital. Unfortunately, his right eye vision progressively deteriorated during steroid therapy. Three days after steroid therapy ceased, he suffered from a high fever and painful subcutaneous masses in the left groin. Peripheral blood test by metagenomic next-generation sequencing (mNGS) was positive for Orientia tsutsugamushi, but negative for other pathogens. The diagnosis was then revised to scrub typhus and ON. His systemic symptoms rapidly disappeared after oral doxycycline and omadacycline therapy. However, his right eye vision continuously deteriorated to hand motion. Further serum tests for aquaporin 4-IgG antibody and myelin oligodendrocyte glycoprotein-IgG antibody were both negative, but for anticardiolipin IgM and beta-2-glycoprotein-I IgM were both positive. The patient’s right eye vision gradually improved after doxycycline combined with steroid pulse therapy. Our case indicates that ON in scrub typhus cases may present as a parainfectious inflammation, and that mNGS is a useful and valuable method for early diagnosis of scrub typhus.
Molecular diagnosis and genotyping of Orientia tsutsugamushi in Maesot and Chiangrai, Thailand
Authors: Rungrojn Artharee , Batty Elizabeth M. , Perrone Carlo , Abdad Mohammad Yazid , Wangrangsimakul Tri , Brummaier Tobias , McGready Rose , Day Nicholas P. J. , Blacksell Stuart D.
Published: May 2023

Introduction

Scrub typhus is a neglected tropical disease with an estimated 1 million cases annually. The Asia-Pacific region is an endemic area for scrub typhus, especially in Thailand.

Methods

Between June 2018 and December 2019, 31 patients with acute undifferentiated febrile illness (AUFI) were recruited for clinical trials and tested positive by a scrub typhus IgM RDT.

Results

Of the 17 buffy coat patient samples tested by 47kDa real-time PCR and 56kDa type-specific antigen (TSA) nested PCR, 94% (16/17) were positive, and of the 11 patients that presented with eschar lesions, 100% (11/11) of the eschar samples were confirmed positive. Genetic analysis of the 560 bp partial 56-kDa TSA gene demonstrated that most Orientia tsutsugamushi (Ot) infections were with Karp, Gilliam, Taiwan, P23, and CM606-like strains.

Discussion

This is the second occasion that the CM606-like and P23-like strains were reported in northern Thailand (first reported in 2011 and 2013, respectively). This study demonstrates that 1) the eschar remains the most reliable biological sample for PCR diagnosis of scrub typhus and 2) Northwestern Thailand has significant diversity of Ot strains, which underlines the requirement for ongoing surveillance to increase our understanding of Ot diversity to ensure accurate diagnostics and treatment.
Comparative genomics reveal distinct potential of Tamlana sp. S12 for algal polysaccharide degradation
Authors: Xia Hai-Feng , Jia Xiao-Yu , Zhou Yan-Xia , Du Zong-Jun , Mu Da-Shuai , Chen Guan-Jun
Published: May 2023

Introduction

Macroalgae contain various polysaccharides that serve as nutrient sources Introduction: Macroalgae contain various polysaccharides that serve as nutrient sources for marine bacteria. Carbohydrate-active enzymes (CAZymes) are the primary feature of marine bacteria that utilize these polysaccharides. In this study, we describe Tamlana sp. S12, a novel strain of marine flavobacteria that can degrade alginate and Laminaria japonica biomass, isolated from the intestines of the sea cucumber Apostichopus japonicas collected at Weihai coast.

Methods

We sequenced the entire genome of strain S12 and constructed a phylogenetic tree using the core genome sequences of related strains. We determined the enzymatic activity of strain S12 using the DNS method and measured its growth curve under different carbon sources using spectrophotometry.

Results

Strain S12 degraded dehydrated L. japonica fragments as the sole nutrient source within 48h. Strain S12 harbors a diverse array of CAZymes at multiple polysaccharide utilization loci (PUL). One PUL encoding lyases from PL6, 7, and 17 families may be used for the degradation of alginate. Additionally, strain S12 harbors PULs encoding carrageenan- and agar-targeting CAZymes. Comparative analysis with related flavobacteria from Algibacter, Maribacter, and Zobellia showed shared CAZymes among these strains, potentially derived from a common ancestor and stably maintained within strains. Genomic signatures, algal degradation ability, and CAZyme patterns suggest that strain S12 has the potential to degrade complex algal polysaccharides.

Conclusion

These results expand our knowledge of CAZymes and enrich our understanding of how marine Flavobacteriaceae adapt to marine algal polysaccharide environments. The availability of the genome of Tamlana sp. S12 will be beneficial for further analyses of marine Flavobacteriaceae.
Effects of ambient humidity and sintering temperature on the tribological and antistatic properties of PEEK and CF/PEEK
Authors: Pang Xianjuan , Yue Shiwei , Huang Suling , Xie Jinmeng , Wang Shuai , Yue Yun , Song Chenfei , Li Dong
Published: May 2023

Polyether ether ketone (PEEK) is one of the representatives of special engineering plastics. Due to the high molding temperature, the molding method of ordinary plastics and cavity abrasives are difficult to meet the requirements. In view of this, pure PEEK was prepared by vacuum hot pressing sintering technology at different sintering temperatures. The mechanical properties and microstructure characterization results showed that the pure PEEK prepared at 350 °C showed excellent friction and wear properties. Then PEEK and CF/PEEK composites were prepared at the optimum sintering temperature. The friction experiments of prepared materials were carried out using UMT-2. The effects of ambient humidity on the tribological properties, wear mechanism and antistatic properties of prepared materials were systematically studied. The surface analysis and properties of the materials were measured by 3D profiler, scanning electron microscope, friction electrostatic tester. The results showed that friction coefficient of PEEK and CF/PEEK composite changed slightly with increase of ambient humidity. The wear rate of PEEK decreased firstly and then increases, which reached the lowest of 3.09 × 10−5 mm3/Nm when the ambient humidity was 40%. The wear rate of CF/PEEK composite changed slightly, which was significantly lower than that of PEEK, and the main wear mechanism was adhesive wear. The surface friction static electricity of PEEK and CF/PEEK composites decreased with the increase of humidity.
Comprehensive analysis to construct a novel immune-related prognostic panel in aging-related gastric cancer based on the lncRNA‒miRNA-mRNA ceRNA network
Authors: Deng Cuncan , Peng Juzheng , Yuan Cheng , Li Huafu , Li Wenchao , Chu Hongwu , Wei Hongfa , He Yulong , Zeng Leli , Huo Mingyu , Zhang Changhua
Published: May 2023

Introduction: Gastric cancer (GC) is the fifth frequent malignancy and is responsible for the third leading cause of cancer-related deaths. Gastric cancer is an aging-related disease, with incidence and mortality rates increasing with aging. The development of GC is affected by lncRNAs, miRNAs, and mRNAs at the transcriptional and posttranscriptional levels. This study aimed to establish a prognostic panel for GC based on competing endogenous RNA (ceRNA) networks.

Methods: RNA sequences were obtained from the TCGA database. Different expressions of RNAs were scrutinized with the EdgeR package. The ceRNA network was built using the starBase database and the Cytoscape. The prognostic panel was constituted with the LASSO algorithm. We developed a nomogram comprising clinical characteristic and risk score. The receiver operating characteristic (ROC) was used to evaluate the accuracy of the nomogram prediction. Hub RNAs expressions were detected by qPCR, immunohistochemistry and western blot respectively. Clinical relevance and survival analyses were analyzed. The relationship between RNAs and immune infiltrations, as well as immune checkpoints, was analyzed and evaluated using the CIBERSORT, TIMER and TISIDB databases.

Results: Four DElncRNAs, 21 DEmiRNAs and 45 DEmRNAs were included in the ceRNA network. A 3-element panel (comprising lncRNA PVT1, hsa-miR-130a-3p and RECK) with poor overall survival (OS) was established and qPCR was applied to validate the expressions of hub RNAs. Hub RNAs were firmly associated with T, M, and N stage. The CIBERSORT database showed that the high lassoScore group exhibited a significantly high ratio of resting memory CD4+ T cells, M2 macrophages and a significantly low ratio of activated memory CD4+ T cells and M1 macrophages. According to the TIMER database, this panel was linked to immune infiltrations and immune cell gene markers. TISIDB database indicated that RECK was positively correlated with immune checkpoints (including CD160, CD244, PDCD1, and TGFBR1).

Discussion: A novel triple prognostic panel of GC constructed based on the ceRNA network was associated with clinical prognostic, clinicopathological features, immune infiltrations, immune checkpoints and immune gene markers. This panel might provide potential therapeutic targets for GC and more experimental verification research is needed.
A randomized controlled trial of preemptive rituximab to prevent recurrent focal segmental glomerulosclerosis post-kidney transplant (PRI-VENT FSGS): protocol and study design
Authors: Rheault Michelle N. , Amaral Sandra , Bock Margret , Chambers Eileen Tsai , Chavers Blanche , Ters Mireile El , Garro Rouba , Gbadegesin Rasheed , Govil Amit , Harshman Lyndsay , Amer Hatem , Hooper David K. , Israni Ajay K. , Riad Samy , Sageshima Junichiro , Shapiro Ron , Seifert Michael , Smith Jodi , Sung Randall , Thomas Christie P. , Wang Qi , Verghese Priya S.
Published: May 2023

Background

Focal segmental glomerulosclerosis (FSGS) is a common cause of end-stage kidney disease requiring kidney transplantation and can recur in the allograft in 30-80% of recipients resulting in reduced graft survival. Plasmapheresis has shown efficacy in treating some cases of recurrent FSGS but isolated plasmapheresis has not demonstrated efficacy in preventing recurrent FSGS. Rituximab has had anecdotal success in preventing recurrence in a single center study but has not been studied in combination with plasmapheresis for preventing FSGS recurrence.

Methods

We are conducting a randomized, controlled, multicenter clinical trial of adult and pediatric kidney transplant recipients with primary FSGS to assess whether plasmapheresis in combination with rituximab prevents recurrent disease post-transplantation.

Discussion

Rituximab combined with plasmapheresis is a promising, novel therapy to prevent recurrent FSGS, a disease with limited therapeutic options and no consensus guidelines for prevention or treatment.

Clinical trial registration

https://clinicaltrials.gov/ct2/show/NCT03763643, identifier NCT03763643.
Case Report: Long-term survival of a patient with advanced rectal cancer and multiple pelvic recurrences after seven surgeries
Authors: Ouyang Ye , Zhu Yilin , Chen Haoyi , Li Guoquan , Hu Xiongwei , Luo Hongyu , Li Zhou , Han Shuai
Published: May 2023

Background

Rectal cancer has a high risk of recurrence and metastasis, with median survival ranging from 24 months to 36 months. K-RAS mutation is a predictor of poor prognosis in rectal cancer. Advanced rectal cancer can be stopped in its tracks by pelvic exenteration.

Case summary

A 51-year-old woman was diagnosed with advanced rectal cancer (pT4bN2aM1b, stage IV) with the KRAS G12D mutation due to a change in bowel habits. The patient had experienced repeated recurrences of rectal cancer after initial radical resection, and the tumor had invaded the ovaries, sacrum, bladder, vagina and anus. Since the onset of the disease, the patient had undergone a total of seven surgeries and long-term FOLFIRI- or XELOX-based chemotherapy regimens, with the targeted agents bevacizumab and regorafenib. Fortunately, the patient was able to achieve intraoperative R0 resection in almost all surgical procedures and achieve tumor-free survival after pelvic exenteration. The patient has been alive for 86 months since her diagnosis.

Conclusions

Patients with advanced rectal cancer can achieve long-term survival through active multidisciplinary management and R0 surgery.
Effectiveness of early heparin therapy on outcomes in critically ill patients with sepsis-induced coagulopathy
Authors: Huang Jia-Jia , Zou Zhi-Ye , Zhou Zhi-Peng , Liu Yan , Yang Zhen-Jia , Zhang Jing-Jing , Luan Ying-Yi , Yao Yong-Ming , Wu Ming
Published: May 2023

Background: This study aimed to investigate whether early unfractionated heparin (UFH) administration provides a survival advantage for patients with sepsis-induced coagulopathy (SIC).

Methods: Patients hospitalized with sepsis-induced coagulopathy from the Medical Information Mart for Intensive Care (MIMIC)-IV database were identified. Patients were divided into two groups, who received unfractionated heparin (UFH) subcutaneously within 24 h after intensive care unit (ICU) admission, and the control group, who received not. The primary endpoint was intensive care unit mortality, the secondary outcomes were 7, 14, and 28-day and hospital mortality. Propensity score matching (PSM) the marginal structural Cox model (MSCM) and E-value analysis were used to account for baseline differences, time-varying and unmeasured confounding factors.

Results: A total of 3,377 patients with sepsis-induced coagulopathy were enrolled in the study, of which 815 in unfractionated heparin group and 2,562 in control group. There was significant effect on primary and secondary outcomes with unfractionated heparin after propensity score matching (intensive care unit mortality, hazard ratio [HR] 0.69, 95% confidence interval [CI] 0.52–0.92; 7-day, HR 0.70, 95% CI 0.49–0.99; 14-day, HR 0.68.95% CI 0.50–0.92; 28-day, HR 0.72, 95% CI 0.54–0.96; hospital mortality, HR 0.74, 95% CI 0.57–0.96), marginal structural Cox model manifested unfractionated heparin associated with decreased intensive care unit mortality in all populations (HR 0.64, 95% CI 0.49–0.84), and stratification with the marginal structural Cox model indicated analysis further indicated the survival advantage only among patients with an sepsis-induced coagulopathy score of 4 (HR 0.56, 95% CI 0.38–0.81). Further analysis showed that treatment with 6,250–13750 IU/day of unfractionated heparin associated with a decreased risk of intensive care unit mortality. Similar results were replicated in subgroup analysis with propensity score matching only for patients with an sepsis-induced coagulopathy score of 4 (intensive care unit mortality, HR 0.51, 95% CI 0.34–0.76).

Conclusion: This study found early unfractionated heparin therapy to patients with sepsis-induced coagulopathy appears to be associated with improved outcomes. Subgroup analysis further demonstrates heparin therapy decreased intensive care unit mortality primarily in patients only with SIC score of 4.
Structural characterization and immunomodulatory activity of a novel polysaccharide from Panax notoginseng
Authors: Jiang Xue-Lian , Ma Gai-Fan , Zhao Bin-Bin , Meng Yan , Chen Lin-Lin
Published: May 2023

Introduction: Polysaccharides are important components of Panax notoginseng that contribute to its immunomodulatory ability. This study aimed to isolate polysaccharides from notoginseng and investigate the structural feature and potential immunomodulatory activity.

Methods: The polysaccharide was isolated from notoginseng by anion exchange and gel permeation chromatography. Its preliminary structure was characterized by Fourier transform infrared (FT-IR) spectroscopy, gas chromatography-mass spectrometry (GC-MS) and nuclear magnetic resonance (NMR) spectroscopy. The immunoregulatory function was further investigated in cyclophosphamide induced immunosuppressive mice, murine splenocytes and macrophages.

Results: A novel homogeneous polysaccharide (PNPB1) was isolated from notoginseng with the molecular weight of 9.3 × 105 Da. Monosaccharide composition analysis indicated that PNPB1 consisted of Glc (88.2%), Gal (9.0%), Ara (2.4%) and trace GlcA, with the major backbone of (1→4)-linked α-Glcp, (1→6)-linked β-Glcp, and (1, 4→6)-linked β-Glcp. The polysaccharide was found to significantly enhance murine body weight, improve their thymus and spleen indices and increase the white blood cells (WBC). PNPB1 significantly enhanced splenic lymphocyte proliferation, NO and cytokine (TNF-α, IL-2, IL-10 and IFN-γ) production, as well as the phagocytosis and TLR2 expression of peritoneal macrophages, indicating potent immunoenhancement effect.

Discussion: These findings provide a theoretical basis for elucidating the structure and immune activity of notoginseng polysaccharides.
Lung recruitment by continuous negative extra-thoracic pressure support following one-lung ventilation: an experimental study
Authors: Schranc Álmos , Diaper John , Südy Roberta , Peták Ferenc , Habre Walid , Albu Gergely
Published: May 2023

Lung recruitment maneuvers following one-lung ventilation (OLV) increase the risk for the development of acute lung injury. The application of continuous negative extrathoracic pressure (CNEP) is gaining interest both in intubated and non-intubated patients. However, there is still a lack of knowledge on the ability of CNEP support to recruit whole lung atelectasis following OLV. We investigated the effects of CNEP following OLV on lung expansion, gas exchange, and hemodynamics. Ten pigs were anesthetized and mechanically ventilated with pressure-regulated volume control mode (PRVC; FiO2: 0.5, Fr: 30–35/min, VT: 7 mL/kg, PEEP: 5 cmH2O) for 1 hour, then baseline (BL) data for gas exchange (arterial partial pressure of oxygen, PaO2; and carbon dioxide, PaCO2), ventilation and hemodynamical parameters and lung aeration by electrical impedance tomography were recorded. Subsequently, an endobronchial blocker was inserted, and OLV was applied with a reduced VT of 5 mL/kg. Following a new set of measurements after 1 h of OLV, two-lung ventilation was re-established, combining PRVC (VT: 7 mL/kg) and CNEP (−15 cmH2O) without any hyperinflation maneuver and data collection was then repeated at 5 min and 1 h. Compared to OLV, significant increases in PaO2 (154.1 ± 13.3 vs. 173.8 ± 22.1) and decreases in PaCO2 (52.6 ± 11.7 vs. 40.3 ± 4.5 mmHg, p < 0.05 for both) were observed 5 minutes following initiation of CNEP, and these benefits in gas exchange remained after an hour of CNEP. Gradual improvements in lung aeration in the non-collapsed lung were also detected by electrical impedance tomography (p < 0.05) after 5 and 60 min of CNEP. Hemodynamics and ventilation parameters remained stable under CNEP. Application of CNEP in the presence of whole lung atelectasis proved to be efficient in improving gas exchange via recruiting the lung without excessive airway pressures. These benefits of combined CNEP and positive pressure ventilation may have particular value in relieving atelectasis in the postoperative period of surgical procedures requiring OLV.
The ventilatory component of the muscle metaboreflex is overstimulated in transthyretin cardiac amyloidosis patients with poor aerobic capacity
Authors: Monfort Astrid , Thevenet Eugenie , Enette Lievyn , Fagour Cedric , Inamo Jocelyn , Neviere Remi
Published: May 2023

Background: The exercise pressor reflex, i.e., metabo- and mechano-reflex, partially regulates the control of ventilation and cardiovascular function during exercise. Abnormal exercise pressor reflex response has been associated with exaggerated ventilatory drive, sympathovagal imbalance and exercise limitation in chronic heart failure patients. Whether metaboreflex is over-activated and participate to poor aerobic capacity in patients with hereditary transthyretin cardiac amyloidosis (CA-TTR) is unknown.

Methods: Twenty-two CA-TTR patients (aged 76 ± 7, 68% male) with the V122I (p.Val142Ile) transthyretin underwent a thorough evaluation including heart rate variability metrics, electrochemical skin conductance (ESC), physical function cardiopulmonary exercise testing, and muscle metaboreflex assessment. Eleven control subjects were chosen for muscle metaboreflex assessment.

Results: Age-matched controls (n = 11) and CA-TTR patients (n = 22) had similar metaboreflex sensitivity for heart rate, stroke volume, cardiac index and mean systemic arterial pressure. Compared with age-matched controls, metaboreflex sensitivity for systemic vascular resistance (−18.64% ± 6.91% vs 3.14% ± 23.35%) and minute-ventilation responses (−9.65% ± 14.83% vs 11.84% ± 23.1%) was markedly increased in CA-TTR patients. Values of ESC displayed positive correlations with stroke volume (r = 0.53, p = 0.011) and cardiac index (r = 0.51, p = 0.015) components of metaboreflex sensitivity, an inverse correlation with systemic vascular resistance (r = −0.55, p = 0.008) and a trend with mean arterial (r = −0.42, p = 0.052) components of metaboreflex sensitivity. Peak aerobic capacity (peak VO2%) displayed an inverse correlation with the ventilation component of metaboreflex sensitivity (r = −0.62, p = 0.015).

Conclusion: Consistent with the “muscle hypothesis” in heart failure, it is proposed that deterioration of skeletal muscle function in hereditary CA-TTR patients may activate muscle metaboreflex, leading to an increase in ventilation and sensation of breathlessness, the perception of fatigue, and overall sympathetic activation.
Autophagy in peritoneal fibrosis
Authors: Su Hong-yong , Yang Jia-jie , Zou Rong , An Ning , Chen Xiao-cui , Yang Chen , Yang Hai-juan , Yao Cui-wei , Liu Hua-feng
Published: May 2023

Peritoneal dialysis (PD) is a widely accepted renal replacement therapy for patients with end-stage renal disease (ESRD). Morphological and functional changes occur in the peritoneal membranes (PMs) of patients undergoing long-term PD. Peritoneal fibrosis (PF) is a common PD-related complication that ultimately leads to PM injury and peritoneal ultrafiltration failure. Autophagy is a cellular process of “self-eating” wherein damaged organelles, protein aggregates, and pathogenic microbes are degraded to maintain intracellular environment homeostasis and cell survival. Growing evidence shows that autophagy is involved in fibrosis progression, including renal fibrosis and hepatic fibrosis, in various organs. Multiple risk factors, including high-glucose peritoneal dialysis solution (HGPDS), stimulate the activation of autophagy, which participates in PF progression, in human peritoneal mesothelial cells (HPMCs). Nevertheless, the underlying roles and mechanisms of autophagy in PF progression remain unclear. In this review, we discuss the key roles and potential mechanisms of autophagy in PF to offer novel perspectives on future therapy strategies for PF and their limitations.
The influence of age on the match-to-match variability of physical performance in women’s elite football
Authors: Baptista Ivan , Winther Andreas K. , Pedersen Sigurd , Johansen Dag , Pettersen Svein Arne
Published: May 2023

Introduction: The fluctuation of external match load throughout a season is influenced by several contextual factors. While some, have been deeply analysed in men’s football literature, information is lacking on how other contextual elements, such as player’s age or experience, may affect the match-to-match variability of locomotor activities. In fact, aging has been described as a multifactorial process with the potential to affect human performance. The aim of this study is to assess if the variability of match locomotor performances fluctuates according to the players’ age.

Methods: 59 female players from four top-level clubs were divided into three age groups and monitored during two seasons using GPS APEX (STATSports, Northern Ireland), with a sampling frequency of 10Hz, in 150 official matches to determine the coefficient of variation (CV) of full-match and 1-min peak locomotor demands of total distance (TD), high-speed running distance, sprint distance (SpD), accelerations, and decelerations. To test whether there was a group effect of age on match-to-match variability we used a one-way ANOVA with CV% as the independent variable.

Results: CV values of full match variables ranged from 3.8% to 27.8%, with total distance (3.8%) in the peak age group and SpD (27.8%) in the pre-peak age group. Similarly, CV values of 1-min peaks ranged from 4.1% (post-peak group) in TD to 22.3% (peak group) in SpD.

Discussion: The main finding was that there were no significant differences between the different age groups in the metrics analysed although trends indicate less variability in the post-peak age group.
A major QTL identification and candidate gene analysis of watermelon fruit cracking using QTL-seq and RNA-seq
Authors: Zhan Yuanfeng , Hu Wei , He Huang , Dang Xuanmin , Chen Songbi , Bie Zhilong
Published: May 2023

Fruit cracking decreases the total production and the commercial value of watermelon. The molecular mechanisms of fruit cracking are unknown. In this study, 164 recombinant inbred lines (RILs) of watermelon, derived from the crossing of the WQ1 (cracking-sensitive) and WQ2 (cracking-tolerant) lines, were sequenced using specific length amplified fragment sequencing (SLAF-seq). A high-density genetic linkage map was constructed with 3,335 markers spanning 1,322.74 cM, at an average 0.40 cM across whole-genome flanking markers. The cracking tolerance capacity (CTC), depth of fruit cracking (DFC), rind thickness (RT), and rind hardness (RH) were measured for quantitative trait locus (QTL) analysis. Of the four traits analyzed, one major QTL with high phenotypic variation (41.04%–61.37%) was detected at 76.613–76.919 cM on chromosome 2, which contained 104 annotated genes. Differential gene expression analysis with RNA sequencing (RNA-seq) data between the two parents identified 4,508 differentially expressed genes (DEGs). Comparison of the genes between the QTL region and the DEGs obtained eight coexisting genes. Quantitative real-time PCR (qRT-PCR) analysis revealed that these genes were significant differentially expressed between the two parents. These results provide new insights into the identification of QTLs or genes and marker-assisted breeding in watermelon.
CRISPR-Cas9-based precise engineering of SlHyPRP1 protein towards multi-stress tolerance in tomato
Authors: Tran Mil Thi , Son Geon Hui , Song Young Jong , Nguyen Ngan Thi , Park Seonyeong , Thach Thanh Vu , Kim Jihae , Sung Yeon Woo , Das Swati , Pramanik Dibyajyoti , Lee Jinsu , Son Ki-Ho , Kim Sang Hee , Vu Tien Van , Kim Jae-Yean
Published: May 2023

Recently, CRISPR-Cas9-based genome editing has been widely used for plant breeding. In our previous report, a tomato gene encoding hybrid proline-rich protein 1 (HyPRP1), a negative regulator of salt stress responses, has been edited using a CRISPR-Cas9 multiplexing approach that resulted in precise eliminations of its functional domains, proline-rich domain (PRD) and eight cysteine-motif (8CM). We subsequently demonstrated that eliminating the PRD domain of HyPRP1 in tomatoes conferred the highest level of salinity tolerance. In this study, we characterized the edited lines under several abiotic and biotic stresses to examine the possibility of multiple stress tolerance. Our data reveal that the 8CM removal variants of HK and the KO alleles of both HK and 15T01 cultivars exhibited moderate heat stress tolerance. Similarly, plants carrying either the domains of the PRD removal variant (PR1v1) or 8CM removal variants (PR2v2 and PR2v3) showed better germination under osmosis stress (up to 200 mM mannitol) compared to the WT control. Moreover, the PR1v1 line continuously grew after 5 days of water cutoff. When the edited lines were challenged with pathogenic bacteria of Pseudomonas syringae pv. tomato (Pto) DC3000, the growth of the bacterium was significantly reduced by 2.0- to 2.5-fold compared to that in WT plants. However, the edited alleles enhanced susceptibility against Fusarium oxysporum f. sp. lycopersici, which causes fusarium wilt. CRISPR-Cas9-based precise domain editing of the SlHyPRP1 gene generated multi-stress-tolerant alleles that could be used as genetic materials for tomato breeding.
Self-concept explains gender differences in mental rotation performance after stereotype activation
Authors: Rahe Martina , Schürmann Linda , Jansen Petra
Published: May 2023

Introduction

Mental rotation is an ability that usually displays robust and large gender differences in favor of boys and men. When participants are told that males outperform females, it can result in worse performance for females (stereotype threat effect) and better performance for males (stereotype lift effect). Because various studies show different results for the effect of stereotype activation, the present study aimed to investigate whether adolescents’ self-concept would moderate stereotype activation effects.

Methods

127 adolescents (61 male, 66 female) between 10 and 18  years (M = 13.54, SD = 1.99) solved the mental rotation test and filled out a questionnaire about their perceived performance, stereotype beliefs, and self-concept.

Results

Results showed that self-concept and stereotype activation affected male and female adolescents’ actual and perceived performance differently. For males, a better self-concept was associated with better performance in adolescents with stereotype activation and with lower performance in those without the activation. This interaction was only marginally significant. For females, an increasing self-concept was associated with worse performance in adolescents with stereotype activation and with better performance in those without activation. Furthermore, a better self-concept was associated with higher perceived performance in male adolescents with stereotype activation and with lower perceived performance without the activation.

Discussion

Reasons for these results could be the (in)congruence between males’ own perception of their abilities (self-concept) and the instruction of the activation.
Heterogeneity of resilience and the curvilinear relationship between childhood trauma and resilience among people with schizophrenia
Authors: Wang Weiliang , Zhang Jun , Zheng Xinzhu , Li Guohua , Zhou Yuqiu
Published: May 2023

Background

As a group with a high incidence of childhood trauma, the differential characteristics of resilience in schizophrenia and its relationship with childhood trauma are still unclear.

Methods

A total of 626 individuals diagnosed with schizophrenia were selected from four psychiatric hospitals in northern China. Childhood trauma and resilience were measured using the Childhood Trauma Questionnaire-short form (CTQ-SF) and Connor–Davidson Resilience Scale (CD-RISC), respectively. Latent profile analysis (LPA) was used to identify the potential classes of resilience. A generalized additive mixed model (GAMM) and restricted cubic spline (RCS) was used to explore and determine the shape of the relationship between childhood trauma and resilience.

Results

Model fits of LPA showed three heterogeneous classes of resilience: moderate resilience levels (n = 312; 49.06%); high resilience levels (n = 171; 26.89%) and low resilience levels (n = 153; 24.06%). Resilience scores fluctuated depending on amount of exposure to childhood trauma. The GAMM results verified the non-linear relationship between resilience and childhood trauma, with an estimated degree of freedom higher than 1 (4.573) and p = 0.003. RCS fitted for ordinary least square (OLS) regression models determined a smooth continuous cubic curve of resilience across childhood trauma levels, and the two turning points of the curve line were 41.04 and 54.74 for childhood trauma.

Discussion

Our findings confirm the people-specific differences in the level of resilience in schizophrenia and describe the cubic curvilinear relationship between childhood trauma and resilience, which provides data support for mechanistic research and intervention in related fields.
The Craving-Manager smartphone app designed to diagnose substance use/addictive disorders, and manage craving and individual predictors of relapse: a study protocol for a multicenter randomized controlled trial
Authors: Serre Fuschia , Moriceau Sarah , Donnadieu Léa , Forcier Camille , Garnier Hélène , Alexandre Jean-Marc , Dupuy Lucile , Philip Pierre , Levavasseur Yannick , De Sevin Etienne , Auriacombe Marc ,   for Craving-Manager RCT investigator group
Published: May 2023

Background

The rate of individuals with addiction who are currently treated are low, and this can be explained by barriers such as stigma, desire to cope alone, and difficulty to access treatment. These barriers could be overcome by mobile technologies. EMI (Ecological Momentary Intervention) is a treatment procedure characterized by the delivery of interventions (messages on smartphones) to people in their daily lives. EMI presents opportunities for treatments to be available to people during times and in situations when they are most needed. Craving is a strong predictor of relapse and a key target for addiction treatment. Studies using Ecological Momentary Assessment (EMA) method have revealed that, in daily life, person-specific cues could precipitate craving, that in turn, is associated with a higher probability to report substance use and relapse in the following hours. Assessment and management of these specific situations in daily life could help to decrease addictive use and avoid relapse. The Craving-Manager smartphone app has been designed to diagnose addictive disorders, and assess and manage craving as well as individual predictors of use/relapse. It delivers specific and individualized interventions (counseling messages) composed of evidence-based addiction treatments approaches (cognitive behavioral therapy and mindfulness). The Craving-Manager app can be used for any addiction (substance or behavior). The objective of this protocol is to evaluate the efficacy of the Craving-Manager app in decreasing use (of primary substance(s)/addictive behavior(s)) over 4 weeks, among individuals on a waiting list for outpatient addiction treatment.

Methods/design

This multicenter double-blind randomized controlled trial (RCT) will compare two parallel groups: experimental group (full interventional version of the app, 4 weeks, EMA + EMI), versus control group (restricted version of the app, 4 weeks, only EMA). Two hundred and seventy-four participants will be recruited in 6 addiction treatment centers in France.

Discussion

This RCT will provide indication on how the Craving-Manager app will reduce addictive use (e.g., better craving management, better stimulus control) in both substance and behavioral addictions. If its efficacy is confirmed, the app could offer the possibility of an easy to use and personalized intervention accessible to the greatest number of individuals with addiction.

Clinical Trial Registration

ClinicalTrials.gov: NCT04732676.
Does the blunted stimulation of skeletal muscle protein synthesis by aging in response to mechanical load result from impaired ribosome biogenesis?
Authors: Chaillou Thomas , Montiel-Rojas Diego
Published: May 2023

Age-related loss of skeletal muscle mass leads to a reduction of strength. It is likely due to an inadequate stimulation of muscle protein synthesis (MPS) in response to anabolic stimuli, such as mechanical load. Ribosome biogenesis is a major determinant of translational capacity and is essential for the control of muscle mass. This mini-review aims to put forth the hypothesis that ribosome biogenesis is impaired by aging in response to mechanical load, which could contribute to the age-related anabolic resistance and progressive muscle atrophy. Recent animal studies indicate that aging impedes muscle hypertrophic response to mechanical overload. This is associated with an impaired transcription of ribosomal DNA (rDNA) by RNA polymerase I (Pol I), a limited increase in total RNA concentration, a blunted activation of AKT/mTOR pathway, and an increased phosphorylation of AMPK. In contrast, an age-mediated impairment of ribosome biogenesis is unlikely in response to electrical stimulations. In human, the hypertrophic response to resistance exercise training is diminished with age. This is accompanied by a deficit in long-term MPS and an absence of increased total RNA concentration. The results addressing the acute response to resistance exercise suggest an impaired Pol I-mediated rDNA transcription and attenuated activation/expression of several upstream regulators of ribosome biogenesis in muscles from aged individuals. Altogether, emerging evidence indicates that impaired ribosome biogenesis could partly explain age-related anabolic resistance to mechanical load, which may ultimately contribute to progressive muscle atrophy. Future research should develop more advanced molecular tools to provide in-depth analysis of muscle ribosome biogenesis.
Case Report: Thrombopoietin receptor agonists in resistant thrombocytopenia in pregnancy: a case series and review of literature
Authors: Sayed Gamal , ElKourashy Sarah A. , Alnajjar Mohammed , Mallahi Naela Al , Fareed Shehab
Published: May 2023

Immune thrombocytopenia (ITP) affects 0.1 to 1 per 1000 pregnancies and severe ITP, with platelet counts less than 10,000/µL, is difficult to manage. Two pregnant patients with ITP who were successfully treated with thrombopoietin receptor agonists (TPO-RA) at a tertiary institution are discussed. The first patient had chronic ITP, achieved complete remission with eltrombopag, but was resistant to intravenous immunoglobulin (IVIG) and steroids in her second pregnancy. Romiplostim was effective, and she had an uneventful cesarean section. The second patient responded well to eltrombopag at 35 weeks of gestation and had a vaginal delivery. ITP in pregnancy is managed based on clinical expertise, and TPO-RA use during pregnancy is largely from case reports. For severe ITP, eltrombopag or romiplostim from around 34 weeks can be used if other treatments fail, with a goal of achieving a platelet count of over 80,000/µL. The mother’s response to medication may vary in different pregnancies. Induction of labor may be appropriate in some cases.
Case study of IMU loads and self-reported fatigue monitoring of water polo goalkeepers preparing for the Olympic games
Authors: Croteau Félix , Gaudet Sylvain , Briand Jeremy , Clément Julien
Published: May 2023

Introduction

Measurement of training in water polo goalkeepers has focused first on psycho-physiological variables, but also on external volume estimated with wearable sensors. However, there are limited studies exploring training monitoring in water polo goalkeepers longitudinally.

Methods

Three female senior national team goalkeepers participated in this study from May to August 2021. Internal loads were defined using session rating of perceived exertion (sRPE). Tri-axial accelerations and angular velocities were measured with an inertial measurement unit (IMU) placed on the lower back to measure external loads. Relationships between self-reported and IMU-derived metrics were explored using Spearman correlations. Two-way ANOVAs were used to assess differences between session types and between athletes.

Results

In total, 247 sessions were collected (159 practices, 67 matches and 21 game warm up), with 155 sessions having complete data. IMU metrics, such as number of kicks, number of jumps or player-load showed high correlation with each other (ρ = 0.80–0.88). There was also a moderate correlation (ρ = 0.47, 95% CI = 0.33–0.58) between sRPE and player-load measured with the IMU. ANOVA tests showed that there were significant differences between athletes for sRPE (p < 0.01) but not for player load (p = 0.47). There were no interactions between athletes and training types, except for index score (p < 0.01).

Conclusions

This study shows that monitoring of training loads can be performed successfully in water polo goalkeepers using a combination of self-reported and IMU measures. Self-reported outcomes can be expected to vary significantly across athletes within the same session, while IMU metrics vary across training situations. Finally, coaches should be mindful of missing data, as they can skew the interpretation of training loads.
Correlations between the histopathological alterations in minor salivary glands and the clinically suspected Sjögren’s syndrome
Authors: Janka Mária , Zalatnai Attila
Published: May 2023

In sicca syndrome patients the xerostomia, xerophthalmia and the serological findings may strongly suggest the autoimmune Sjögren’s syndrome, but the histological findings in the labial salivary gland biopsies do not always justify the suspected diagnosis. The aim of this study was to compare the histomorphological changes and the clinical findings in patients with pathologically established Sjögren’s syndrome and in cases with negative histology. A total of 133 labial biopsies have been retrospectively evaluated from 2015 to May 2022, and the characteristic Sjögren’s lesions were found in 67 cases. According to the clinical data, 34 cases proved to be primary, and 33 were associated (“secondary”) forms. In 66 cases, the histology did not justify Sjögren’s syndrome; a significant acinar loss, fibrolipomatous infiltration, and mild sialadenitis had led to the clinical symptoms. In Sjögren’s histologies, the acinar loss was detected in just 31.8% of cases, which might indicate that the diminished saliva production represents immune-mediated hypofunction rather than direct damage of the acini. This is the first systemic study in Hungary investigating the correlation between pathological alterations and clinical findings.
A Lightweight Exoskeleton Force Feedback Glove
Authors: Peng Shigang , Yu Meng , Geng Xinyu , Cheng Xiang , Wang Pengfei
Published: May 2023

The wearable force feedback glove provides a promising solution for enhancing immersion during teleoperation. In this study, a lightweight five-finger exoskeleton force feedback glove (EFFG) was designed, enabling driving force detection and flexible force feedback. This wireless prototype weighs only 278 g. The glove features a bionic structure and optimized linkage length to ensure operator safety while providing extensive coverage of the finger working space. Moreover, a detailed illustration of the kinematic and dynamic analyses, as well as the circuit structure, was presented. With this prototype as the basis, an isomorphic teleoperation system is designed to achieve force feedback during teleoperation. Concurrently, a driving force-based impedance controller was proposed to enable smooth and precise force feedback. Finally, the performance of the EFFG prototype was evaluated in both unconstrained and constrained environments, demonstrating that the proposed glove is lightweight, capable of detecting driving force, and provides flexible force feedback.
Development of a Deformable Water-Mobile Robot
Authors: Ye Changlong , Su Yang , Yu Suyang , Wang Yinchao
Published: May 2023

This article proposes a deformable water-mobile robot that can be used for rescue work. The robot body adopts an open-motion chain structure with two degrees of freedom, including two drive modules and one main control module. The three modules are connected through deformation joints, and each drive module is equipped with an underwater thruster. The robot can obtain a triangle, linear shape, curved shape, and U-shape through deformation and have three types of motion: linear shape motion, U-shaped motion, and curved shape motion. In the linear shape, a multi-island genetic algorithm was used to optimize the structural parameters with the minimum resistance and the maximum volume. Floating state analysis was conducted in the U-shape, and the structural parameters were reasonably designed. By experimenting with the robot prototype on water, the robot can achieve oscillating, linear, U-shaped, and horizontal rotary motion, has an automatic adjustment function, and effective buoyancy meets the required requirements.