bluuebunny/crossref_metadata_2025_split huggingface dataset:
β-defensin 118 attenuates inflammation and injury of intestinal epithelial cells upon enterotoxigenic Escherichia coli challenge
Authors: Fu Qingqing , Lin Qian , Chen Daiwen , Yu Bing , Luo Yuheng , Zheng Ping , Mao Xiangbing , Huang Zhiqing , Yu Jie , Luo Junqiu , Yan Hui , He Jun 
Published: April 2022

Abstract
Background
Antimicrobial peptides including various defensins have been attracting considerable research interest worldwide, as they have potential to substitute for antibiotics. Moreover, AMPs also have immunomodulatory activity. In this study, we explored the role and its potential mechanisms of β-defensin 118 (DEFB118) in alleviating inflammation and injury of IPEC-J2 cells (porcine jejunum epithelial cell line) upon the enterotoxigenic Escherichia coli (ETEC) challenge.

Results
The porcine jejunum epithelial cell line (IPEC-J2) pretreated with or without DEFB118 (25 μg/mL) were challenged by ETEC (1×106 CFU) or culture medium. We showed that DEFB118 pretreatment significantly increased the cell viability (P<0.05) and decreased the expressions of inflammatory cytokines such as the interleukin-1β (IL-1β), interleukin-6 (IL-6), and tumor necrosis factor-α (TNF-α) in IPEC-J2 cells exposure to ETEC (P<0.05). Interestingly, DEFB118 pretreatment significantly elevated the abundance of the major tight-junction protein zonula occludens-1 (ZO-1), but decreased the number of apoptotic cells upon ETEC challenge (P<0.05). The expression of caspase 3, caspase 8, and caspase 9 were downregulated by DEFB118 in the IPEC-J2 cells exposure to ETEC (P<0.05). Importantly, DEFB118 suppressed two critical inflammation-associated signaling proteins, nuclear factor-kappa-B inhibitor alpha (IκB-α) and nuclear factor-kappaB (NF-κB) in the ETEC-challenged IPEC-J2 cells.

Conclusions
DEFB118 can alleviate ETEC-induced inflammation in IPEC-J2 cells through inhibition of the NF-κB signaling pathway, resulting in reduced secretion of inflammatory cytokines and decreased cell apoptosis. Therefore, DEFB118 can act as a novel anti-inflammatory agent.
Association of SORD mutation with autosomal recessive asymmetric distal hereditary motor neuropathy
Authors: Alluqmani Majed , Basit Sulman 
Published: April 2022

Abstract
Background
The aim of this study was to identify the underlying genetic defect in a family segregating autosomal recessive asymmetric hereditary motor neuropathy (HMN). Asymmetric HMN has not been associated earlier with SORD mutations.

Methods
For this study, we have recruited a family and collected blood samples from affected and normal individuals of a family. Detailed clinical examination and electrophysiological studies were carried out. Whole exome sequencing was performed to detect the underlying genetic defect in this family. The potential variant was validated using the Sanger sequencing approach.

Results
Clinical and electrophysiological examination revealed asymmetric motor neuropathy with normal nerve conduction velocities and action potentials. Genetic analysis identified a homozygous mononucleotide deletion mutation (c.757delG) in a SORD gene in a patient. This mutation is predicted to cause premature truncation of a protein (p.A253Qfs*27).

Conclusions
Interestingly, the patient with homozygous SORD mutation demonstrates normal motor and nerve conduction velocities and action potentials. The affected individual describes in this study has a unique presentation of asymmetric motor neuropathy predominantly affecting the right side more than the left as supported by the clinical examination. This is the first report of SORD mutation from Saudi Arabia and this study further expands the phenotypic spectrum of SORD mutation.
One-stage freehand minimally invasive pedicle screw fixation combined with mini-access surgery through OLIF approach for the treatment of lumbar tuberculosis
Authors: Fan Wenshuai , Yang Guangling , Zhou Tianyao , Chen Yanchao , Gao Zhenchao , Zhou Weili , Gu Yutong 
Published: April 2022

Abstract
Objective
To compare one-stage freehand minimally invasive pedicle screw fixation (freehand MIPS) combined with mini-access surgery through OLIF approach with posterior approach for treatment of lumbar tuberculosis (TB), and evaluate its feasibility, efficacy and safety in debridement, bone graft fusion and internal fixation.

Methods
48 patients with single segment lumbar TB from June 2014 to June 2017 were included. Among them, 22 patients underwent one-stage freehand MIPS combined with mini-access surgery through OLIF approach (group 1), 26 patients were treated with posterior open surgery (group 2). Duration of operation, blood loss, and stay time in hospital were compared. Pre- and postoperative visual analog scale (VAS) pain scores, Oswestry disability index (ODI), erythrocyte sedimentation rate, complications and images were also recorded.

Results
Patients in group 1 showed significantly less blood loss (165 ± 73 ml vs 873 ± 318 ml, P < 0.001), shorter stay time in hospital (6/4–8 days vs 12/8–15 days, P < 0.001), while longer duration of operation (185 ± 14 min vs 171 ± 12 min, P < 0.001) than group 2 did. VAS scores significantly decreased after surgery in both groups, however, VAS scores of group 1 were significantly lower than that of group 2 immediately after surgery and during follow-ups (P < 0.001). ODI of group 1 was also significantly lower than that of group 2 at 12-month after surgery (P < 0.001).

Conclusion
One-stage freehand MIPS combined with mini-access surgery through OLIF approach is a feasible, efficient and safe method in treating single segment lumbar TB. It shows advantages of less surgical trauma and faster postoperative recovery.
Gilbert or Crigler–Najjar syndrome? Neonatal severe unconjugated hyperbilirubinemia with P364L UGT1A1 homozygosity
Authors: Cozzi Laura , Nuti Federica , Degrassi Irene , Civeriati Daniela , Paolella Giulia , Nebbia Gabriella 
Published: April 2022

Abstract
Background
Several mutations of bilirubin uridine diphosphate-glucuronosyltransferase gene (UGT1A1) have been reported in patients with unconjugated hyperbilirubinemia. Few reports are available about the p.Pro364Leu mutation (P364L, c.1091C > T) in homozygous newborns. We describe the clinical, laboratory and therapeutic approach in two Chinese neonates with severe jaundice, homozygous for the P364L mutation.

Case presentation
Two Chinese breastfed female infants presented prolonged unconjugated hyperbilirubinemia at the age of 1 month. Total bilirubin was higher than 15 mg/dl (D < 1). An exhaustive etiological work-up to detect possible causes of hyperbilirubinemia (notably hemolytic ones) was negative.
The promoter and coding regions of UGT1A1 were amplified by polymerase chain reaction (PCR) from genomic DNA isolated from leukocytes. Both patients resulted homozygous for a variant site within the coding region of the gene in the 4 exon, c.1091C > T, p.Pro364Leu.
In front of the persistently high level of unconjugated bilirubin, phototherapy was performed without persistent results. A treatment with phenobarbital was then begun and bilirubin level progressively decreased, with a complete and persistent normalization. The therapy was stopped.

Conclusion
UGT1A1 enzyme activity associated with the P364L mutation has been described as 35.6% of the wild-type enzyme activity. Photo-therapy and phenobarbital can be useful in front of persistently high level of unconjugated bilirubin.
Our cases presented high bilirubin values, overlapping between Gilbert syndrome (GS) and Crigler-Najjar syndrome type II (CNS), but the complete normalization of bilirubin makes GS more likely. Homozygous P364L variant can be associated with severe neonatal unconjugated hyperbilirubinemia in Chinese infants, but jaundice can completely resolve in a few months, contrary to what happens in Crigler-Najjar syndrome type II.
Systematic trait dissection in oilseed rape provides a comprehensive view, further insight, and exact roadmap for yield determination
Authors: Liang Huabing , Ye Jiang , Wang Ying , Wang Xinfa , Zhou Xue-Rong , Batley Jacqueline , King Graham J. , Guo Liang , Tu Jinxing , Shi Jiaqin , Wang Hanzhong 
Published: April 2022

AbstractBackgroundYield is the most important and complex trait that is influenced by numerous relevant traits with very complicated interrelations. While there are a large number of studies on the phenotypic relationship and genetic basis of yield traits, systematic studies with further dissection focusing on yield are limited. Therefore, there is still lack of a comprehensive and in-depth understanding of the determination of yield.ResultsIn this study, yield was systematically dissected at the phenotypic, genetic to molecular levels in oilseed rape (Brassica napusL.). The analysis of correlation, network, and principal component for 21 traits in BnaZN-RIL population showed that yield was determined by a complex trait network with key contributors. The analysis of the constructed high-density single nucleotide polymorphism (SNP) linkage map revealed the concentrated distribution of distorted and heterozygous markers, likely due to selection on genes controlling the growth period and yield heterosis. A total of 134 consensus quantitative trait loci (QTL) were identified for 21 traits, of which all were incorporated into an interconnecting QTL network with dozens of hub-QTL. Four representative hub-QTL were further dissected to the target or candidate genes that governed the causal relationships between the relevant traits.ConclusionsThe highly consistent results at the phenotypic, genetic, and molecular dissecting demonstrated that yield was determined by a multilayer composite network that involved numerous traits and genes showing complex up/down-stream and positive/negative regulation. This provides a systematic view, further insight, and exact roadmap for yield determination, which represents a significant advance toward the understanding and dissection of complex traits.
An unusual clinical manifestation of coronavirus disease 2019 in a woman with twin pregnancy: a case report
Authors: Eslamian Laleh , Ghalandarpoor-Attar Seyedeh Noushin , Shabani Azadeh , Ghalandarpoor-Attar Seyedeh Mojgan 
Published: April 2022

Abstract
Background
Although coronavirus disease 2019 affects mainly the respiratory system, as time passes and our understanding of the disease improves, many nonrespiratory clinical manifestations such as thromboembolic events have been shown to occur with or without respiratory tract involvement.

Case presentation
We present the case of a 21-year-old gravid 3, live 1, abortion 1 Iranian woman pregnant with twins in her early first trimester. Her initial chief complaint was headache that gradually increased in intensity. Eventually, cerebral vein thrombosis was confirmed. Although the patient first manifested with neurological involvement, she developed upper respiratory symptoms soon after, and then nasopharyngeal polymerase chain reaction test returned positive.

Conclusion
Any neurological complaints in pregnant women during the current coronavirus disease 2019 pandemic should raise suspicion for the presence of significant cerebral thrombotic or ischemic events, even if the patient has no complaint of respiratory tract involvement and/or when an initial nasopharyngeal polymerase chain reaction test is negative.
Relationships of growth increments of internal shells and age through entire life cycles in three cultured neritic cephalopods (Mollusca: Cephalopoda) with re-evaluation as application for age determination
Authors: Nabhitabhata Jaruwat , Suriyawarakul Jiraporn , Yamrungrueng Anyanee , Tongtherm Kittichai , Tuanapaya Surangkana 
Published: April 2022

AbstractRelationships between growth increments of internal shell and age was studied in three neritic decapod cephalopods cultured in laboratory through their entire life cycles. The studied cephalopods were the nekticSepioteuthis lessonianad’Orbigny, 1826,Sepia pharaonisEhrenberg, 1831 andSepiella inermisVan Hasselt, 1835. Most of the relationship models are in cubic parabolic, except when numbers of increments were estimated from age inS. pharaonis. Differences of numbers of increments from the real age were higher in the pelagicS. lessonianawhen compared to the benthic sepiids.The differences were higher in juvenile stages (< 60 days after hatching) than adult stages (> 60 days) in the three species. The increment rate is close to the “one day one increment” assumption. The differences of numbers of increments from the ages and the rate of increment apposition revealed the transition point of the life cycle from 60 days of age, corresponding to the sexual maturity or adult stages. Numbers of increments with higher accuracy are reevaluated to be reliable for age determination at least for the neritic species in the tropical zone, where environmental conditions are more stable, regarding the life styles and stages in life cycles of each species.
Blow-up time estimate for porous-medium problems with gradient terms under Robin boundary conditions
Authors: Shen Xuhui 
Published: April 2022

AbstractThis paper deals with the blow-up phenomena connected to the following porous-medium problem with gradient terms under Robin boundary conditions: $$ \textstyle\begin{cases} u_{t}=\Delta u^{m}+k_{1}u^{p}-k_{2} \vert \nabla u \vert ^{q} & \text{in } \Omega\times(0,t^{*}), \\ \frac{\partial u}{\partial\nu}+\gamma u=0 &\text{on } \partial\Omega\times(0,t^{*}), \\ u(x,0)=u_{0}(x)\geq0 &\text{in } \overline{\Omega}, \end{cases} $$

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The role of m6A methylation in osteosarcoma biological processes and its potential clinical value
Authors: Wu Yanjiao , Wang Zhiyun , Shen Jianlin , Yan Wei , Xiang Shurong , Liu Huan , Huang Wenhua 
Published: April 2022

AbstractOsteosarcoma (OS) is the most common primary malignant bone tumor in children and young adults and has a poor prognosis. Recent developments in the field of high-throughput sequencing technology, particularly in methylated RNA immunoprecipitation sequencing (MeRIP-seq), have led to renewed interest in RNA methylation. Among the various RNA modifications, N6-methyladenosine (m6A) modifications are the most common. Emerging evidence suggests that m6A methylation can affect the complexity of cancer progression by regulating biological functions related to cancer. In this review, we will shed light on recent findings regarding the biological function of m6A methylation in OS and discuss future research directions and potential clinical applications of RNA methyltransferases in OS.
Epigenetic and genomic profiling of chordoid meningioma: implications for clinical management
Authors: Daoud Elena V. , Zhu Kelsey , Mickey Bruce , Mohamed Hussein , Wen Mandisa , Delorenzo Michael , Tran Ivy , Serrano Jonathan , Hatanpaa Kimmo J. , Raisanen Jack M. , Snuderl Matija , Cai Chunyu 
Published: April 2022

AbstractChordoid meningioma is a morphological variant of meningioma designated as WHO grade 2. However, the recurrence rates varied widely in different case series, and to date, a unifying molecular genetic signature has not been identified. Among 1897 meningiomas resected at our institution, we identified 12 primary chordoid meningiomas from 12 patients. Histologically, all 12 cases had predominant (> 50%) chordoid morphology. Ten were otherwise grade 1, and two were also atypical. We performed DNA global methylation profile, copy number variation analysis, and targeted next-generation sequencing on 11 chordoid meningiomas, and compared to those of 51 non-chordoid, mostly high grade meningiomas. The chordoid meningiomas demonstrated a unique methylation profile in tSNE, UMAP, and hierarchical heatmap clustering analyses of the most differentially methylated CpGs. The most common copy number variation in chordoid meningioma was loss of 1p (7/11, 64%). Three chordoid meningiomas had 2p loss, which was significantly higher than the non-chordoid control cohort (27% vs 7.2%, p = 0.035). 22q loss was only seen in the two cases with additional atypical histological features. Chordoid meningiomas were enriched in mutations in chromatin remodeling genes EP400 (8/11,73%) KMT2C (4/11, 36%) and KMT2D (4/11, 36%), and showed low or absent NF2, TERT, SMO, and AKT1 mutations. Prognosis wise, only one case recurred. This case had atypical histology and high-grade molecular features including truncating NF2 mutation, 1p, 8p, 10, 14, 22q loss, and homozygous deletion of CDKN2A/B. Progression free survival of chordoid, otherwise grade 1 meningioma was comparable to non-chordoid WHO grade 1 meningioma (p = 0.75), and significantly better than chordoid WHO grade 2 meningioma (p = 0.019). Conclusion: the chordoid histology alone may not justify a universal WHO grade 2 designation. Screening for additional atypical histological or molecular genetic features is recommended.
Epidemiology of adult trauma injuries in Malawi: results from a multisite trauma registry
Authors: Chokotho Linda , Croke Kevin , Mohammed Meyhar , Mulwafu Wakisa , Bertfelt Jonna , Karpe Saahil , Milusheva Sveta 
Published: April 2022

Abstract
Background
Large-scale multisite trauma registries with broad geographic coverage in low-income countries are rare. This lack of systematic trauma data impedes effective policy responses.

Methods
All patients presenting with trauma at 10 hospitals in Malawi from September 2018 to March 2020 were enrolled in a prospective registry. Using data from 49,241 cases, we analyze prevalence, causes, and distribution of trauma in adult patients, and timeliness of transport to health facilities and treatment.

Results
Falls were the most common mechanism of injury overall, but road traffic crashes (RTCs) were the most common mechanism of serious injury, accounting for (48%) of trauma admissions. This pattern was consistent across all central and district hospitals, with only one hospital recording < 40% of admissions due to RTCs. 49% of RTC-linked trauma patients were not in motorized vehicles at the time of the crash. 84% of passengers in cars/trucks/buses and 48% of drivers of cars/trucks/buses from RTCs did not wear seatbelts, and 52% of motorcycle riders (driver and passenger) did not wear helmets. For all serious trauma cases (defined as requiring hospital admission), median time to hospital arrival was 5 h 20 min (IQR 1 h 20 min, 24 h). For serious trauma cases that presented on the same day that trauma occurred, median time to hospital arrival was 2 h (IQR 1 h, 11 h). Significant predictors of hospital admission include being involved in an RTC, age > 55, Glasgow Coma Score < 12, and presentation at hospital on a weekend.

Conclusions
RTCs make up almost half of hospitalized trauma cases in this setting, are equally common in referral and district hospitals, and are an important predictor of injury severity. Pedestrians and cyclists are just as affected as those in vehicles. Many of those injured in vehicles do not take adequate safety precautions. Most trauma patients, including those with serious injuries, do not receive prompt medical attention. Greater attention to safety for both motorized and especially non-motorized road users, and more timely, higher quality emergency medical services, are important policy priorities for Malawi and other developing countries with high burdens of RTC trauma.
Type IIIb endoleak due to stent suture line fabric breakage in the Endurant stent graft: a case report
Authors: Takahashi Satoshi , Nishibe Toshiya , Kano Masaki , Akiyama Shinobu , Iwahashi Toru , Ogino Hitoshi 
Published: April 2022

Abstract
Background
Early type IIIb endoleak is a very rare complication of endovascular aneurysm repair (EVAR).

Case presentation
An 87-year-old man was diagnosed with infrarenal abdominal aortic aneurysm. The patient underwent EVAR using the Endurant stent graft. Postoperative color duplex ultrasound revealed a regular row of pulsatile blood flow from the main body and left leg. The blood flow appeared to be bleeding from the stent suture lines because of its regularity. Type IIIb endoleak was suspected due to stent suture line fabric breakage but was not treated surgically or endovascularly because of the patient’s poor general health status. Six months later, contrast-enhanced CT demonstrated a deformation and enlargement of the aneurysm sac as well as an oozing of the contrast medium on the main body and left limb. Thereafter, he died of a subdural hematoma due to a fall. Autopsy showed no visible abnormal erosion or holes on the graft fabric, suggesting that suture line fabric breakage may have existed during the manufacturing process.

Conclusions
Although rare, type IIIb endoleaks can occur even in the perioperative period after EVAR. Early type IIIb endoleaks may not resolve spontaneously and should be treated promptly, if possible.
Changes in facial width according to the ostectomy level of the proximal bone segment in intraoral vertical ramus osteotomy for mandibular prognathism
Authors: Kang Sang-Hoon , Kang Min-Jun , Kim Min-Ji , Kim Moon-Key 
Published: April 2022

Abstract
Background
This study aimed to investigate the changes in facial width according to the ostectomy level of the proximal segment after orthognathic surgery using intraoral vertical ramus osteotomy (IVRO) in patients with mandibular prognathism.

Methods
The participants included 32 individuals who were diagnosed with class III malocclusion prior to surgery. All participants underwent orthognathic surgery using either version of IVRO. The surgery patients were categorized into two groups depending on the type of proximal bone-segment ostectomy technique used: patients whose osteotomy height was at the level of the mandibular tooth occlusal surface (the mandibular tooth surface–level group) and patients whose osteotomy height was at the level of the mandibular inferior border (the mandibular inferior border–level group). The distances between the mandibular width and soft tissue width at the height of the sigmoid notch, mandibular foramen, and alveolar bone and at the anterior-posterior location of the mandibular condyle, mandibular foramen, and coronoid process were compared between the groups. All data were compared to identify differences between preoperative and postoperative measurements.

Results
The postoperative change in facial soft tissue width at the intersection of the coronal plane with the coronoid process and the horizontal plane at the height of the mandibular alveolar bone in the group with osteotomy at the level of the mandibular occlusal surface differed significantly from that in the group with osteotomy at the level of the mandibular inferior border, with respective increases (mean ± SD) of 1.3 ± 3.5% and 4.7 ± 5.6%, compared to preoperative measurements (p = 0.050).

Conclusions
Proximal segment ostectomy at the level of the mandibular occlusal surface must be considered with regard to postoperative facial soft tissue width in vertical ramus osteotomy. Additionally, it is necessary to study the visual effect of the width of the mandible appearing small because of the posterior position of the mandible, even when the mandibular facial width is maintained.