bluuebunny/crossref_metadata_2025_split huggingface dataset:
Evolutionary history of adenomas to colorectal cancer in FAP families
Authors: Yang Cuiping , Xiang Enfei , Chen Ping , Fang Xuqian 
Published: July 2024

ObjectiveFamilial adenomatous polyposis (FAP) is a genetic syndrome characterized by multiple polyps at various evolutionary stages, which, if left untreated, inevitably progress to colorectal cancer (CRC). In this study, we present a comprehensive analysis of the evolutionary history of FAP-CRC from precancerous adenoma to carcinoma.DesignTissues were collected from gastrointestinal endoscopy or surgical resection. Exome sequencing was performed on multiple regions of adenocarcinoma (n = 8), villous adenoma (n = 10), tubular adenoma (n = 9) and blood samples were obtained from 9 patients belonging to 7 Chinese FAP families. Phylogenetic trees were reconstructed, and evolutionary analysis was conducted to reveal the temporal sequence of events leading to CRC.ResultsInherited germline mutation sites in APC gene were identified in FAP01 (p.S1281*, COSM19212), FAP03 (p.S384Tfs*19), FAP04 (p.E1538*, COSM6041693), FAP05 (p.Q1062*, COSM3696862), and FAP07-FAP09 (p.V677Sfs*3). Notably, p.V677Sfs*3 mutation was recognized as a novel germline mutation in APC, supported by evidence of genotype-phenotype correlation in pedigree analysis. Adenomas exhibited lower mutational rates than FAP-CRC and displayed recurrent alterations in well-known chromosomal instability (CIN) genes (APC, RAS, SMAD4 and TP53) and DNA damage repair genes (SUZ12, KMT2C, BCLAF1, RUNX1, and ARID1B), suggesting the presence of genomic instability. Furthermore, a progressive increase in the HRD score (a measure of “genomic scars”) was observed from tubular adenomas to villous adenomas and ultimately to carcinomas. TP53 emerged as the primary driver gene for adenoma-carcinoma transition, with driver mutations consistently appearing simultaneously rather than sequentially acquired from adenomas to carcinomas. Clonal evolution demonstrated that liver metastases can originate from the same cancer-primed cell present in a primary cancerous lesion.ConclusionWe identified a novel pathogenic variant in APC, namely, p.V677Sfs*3. The process of carcinogenesis in FAP-CRC supports the classical cancerization model, where an initial APC mutation leads to the activation of the WNT signaling pathway and CIN. Subsequently, additional mutations occur in other putative CIN genes (e.g., DNA repair, chromatin remodeling), ultimately leading to the development of microsatellite stable (MSS) tumors. Our study provides a comprehensive understanding of the genomic landscapes that underlie the transition from adenoma to carcinoma.
The efficacy of the food-grade antimicrobial xanthorrhizol against Staphylococcus aureus is associated with McsL channel expression
Authors: Mordukhova Elena A. , Kim Jongwan , Jin Haiyan , No Kyoung Tai , Pan Jae-Gu 
Published: July 2024

BackgroundThe emergence and spread of multidrug-resistant Staphylococcus aureus strains demonstrates the urgent need for new antimicrobials. Xanthorrhizol, a plant-derived sesquiterpenoid compound, has a rapid killing effect on methicillin-susceptible strains and methicillin-resistant strains of S. aureus achieving the complete killing of staphylococcal cells within 2 min using 64 μg/mL xanthorrhizol. However, the mechanism of its action is not yet fully understood.MethodsThe S. aureus cells treated with xanthorrhizol were studied using optical diffraction tomography. Activity of xanthorrhizol against the wild-type and mscL null mutant of S. aureus ATCC 29213 strain was evaluated in the time-kill assay. Molecular docking was conducted to predict the binding of xanthorrhizol to the SaMscL protein.ResultsXanthorrhizol treatment of S. aureus cells revealed a decrease in cell volume, dry weight, and refractive index (RI), indicating efflux of the cell cytoplasm, which is consistent with the spontaneous activation of the mechanosensitive MscL channel. S. aureus ATCC 29213ΔmscL was significantly more resistant to xanthorrhizol than was the wild-type strain. Xanthorrhizol had an enhanced inhibitory effect on the growth and viability of exponentially growing S. aureus ATCC 29213ΔmscL cells overexpressing the SaMscL protein and led to a noticeable decrease in their viability in the stationary growth phase. The amino acid residues F5, V14, M23, A79, and V84 were predicted to be the residues of the binding pocket for xanthorrhizol. We also showed that xanthorrhizol increased the efflux of solutes such as K+ and glutamate from S. aureus ATCC 29213ΔmscL cells overexpressing SaMscL. Xanthorrhizol enhanced the antibacterial activity of the antibiotic dihydrostreptomycin, which targets the MscL protein.ConclusionOur findings indicate that xanthorrhizol targets the SaMscL protein in S. aureus cells and may have important implications for the development of a safe antimicrobial agent.
A lateral flow immunoassay for the rapid identification of Candida auris from isolates or directly from surveillance enrichment broths
Authors: Chalin Arnaud , Arvor Antoine , Hervault Anne-Sophie , Plaisance Marc , Niol Léa , Simon Stéphanie , Volland Hervé 
Published: July 2024

IntroductionCandida auris is a recently discovered yeast with a multi-drug resistant profile associated with high mortality rates. The rapid identification of Candida auris in hospital settings is crucial to allow appropriate therapeutic and rapid implementation of infection management measures. The aim of this study was to develop a lateral flow immunoassay (LFIA) for the rapid identification of Candida auris.MethodsHighly specific monoclonal antibodies were obtained by immunizing mice with membrane proteins from Candida auris which were then used to develop a LFIA whose performance was assessed by testing 12 strains of Candida auris and 37 strains of other Candida species. Isolates were grown on either Sabouraud dextrose, CHROMagarTM Candida Plus or HardyCHROMTMCandida + auris agar plates. The strains were also cultured on salt sabouraud-dextrose with chloramphenicol or a commercially available Salt-Sabouraud Dulcitol Broth with chloramphenicol and gentamicin, and processed using a simple centrifugation protocol to recover a pellet. Finally, the colonies or yeast extract were transferred to the LFIA to determine the specificity and sensitivity of the assay.ResultsThe LFIA reached 100% specificity and sensitivity from solid agar plates. For both enrichment broths, some Candida non-auris species were able to grow, but the LFIA remained 100% specific. The use of a dextrose-based sabouraud broth resulted in earlier identification with the LFIA, with most of the Candida auris strains detected at 24 h.ConclusionThe developed LFIA prototype represents a powerful tool to fight the emerging threat of Candida auris. Clinical validation represents the next step.
Transcriptomic analysis reveals novel hub genes associated with astrocyte autophagy in intracerebral hemorrhage
Authors: Zheng Yun , Duan Chengwei , Yu Haoyun , Jiang Guannan , Shen Haitao , Li Haiying , Wang Zongqi , Zhou Xiaohan , Li Xiang , He Mingqing 
Published: July 2024

IntroductionNeuroinflammation serves as a critical local defense mechanism against secondary brain injury following intracerebral hemorrhage (ICH), and astrocytes play a prominent role in this process. In this study, we investigated astrocytic changes during the inflammatory state after ICH to identify new targets for improving the inflammatory response.MethodsWe stimulated mouse astrocytes with lipopolysaccharide (LPS) in vitro and analyzed their transcriptomes via ribonucleic acid sequencing. We created an ICH model in living organisms by injecting autologous blood.ResultsRNA sequencing revealed that 2,717 genes were differentially expressed in the LPS group compared to those in the saline group, with notable enrichment of the autophagic pathway. By intersecting the 2,717 differentially expressed genes (DEGs) with autophagy-related genes, we identified 36 autophagy-related DEGs and seven hub genes. Previous studies and quantitative reverse transcription-polymerase chain reaction results confirmed the increased expression of phosphatidylinositol 3-kinase catalytic subunit type 3 (Pik3c3), AKT serine/threonine kinase 1 (Akt1), and unc-51 like autophagy activating kinase 2 (Ulk2) in astrocytes after ICH. Transcription factors and target miRNAs were identified for the final three DEGs, and 3-methyladenine and leupeptin were identified as potential therapeutic agents for ICH.ConclusionOur findings suggest that astrocyte autophagy plays a critical role in ICH complexity, and that Pik3c3, Akt1, and Ulk2 may be potential therapeutic targets.
Interictal widespread pressure hyperalgesia and aura: associations with vestibular migraine in a cross-sectional study
Authors: Toriyama Toshihide , Hanaoka Yoshiki , Horiuchi Tetsuyoshi 
Published: July 2024

BackgroundPatients with vestibular migraine (VM) exhibit higher levels of central sensitization and share similar disorder characteristics with migraine with vestibular symptoms (MwVS), except in terms of disability. These patients experience fluctuating mechanical pain thresholds and persistent vestibular symptoms even without a migraine attack.ObjectiveThis study aimed to investigate whether interictal allodynia or hyperalgesia can differentiate between VM, MwVS, and migraine only.MethodsWe conducted a cross-sectional study of patients with episodic migraine aged between 18 and 65 years, categorized into three groups. A questionnaire was used to collect and compare demographic and clinical variables. Interictal widespread pressure hyperalgesia (IWPH) was evaluated using the Manual Tender Point Survey. Patients with tender point counts ≥7 were classified as having IWPH.ResultsThe study included 163 patients: 31 with VM, 54 with MwVS, and 78 with migraine without vestibular symptoms (migraine only). We found that aura (p = 0.042, odds ratio 3.50, 95% confidence interval 1.26–10.4), tender point count (p &lt; 0.001, d = 0.889, median difference = 2), and IWPH (p = 0.002, odds ratio 5.3, 95% confidence interval 1.80–17.2) were significantly associated with VM compared to MwVS. Aura and IWPH were significantly associated with VM. However, there were no significant associations observed for interictal allodynia or hyperalgesia between the other two groups.ConclusionIWPH and aura are associated with VM, indicating their potential roles in its pathogenesis. These findings may contribute to the differential diagnosis and management of migraine, potentially leading to targeted treatment strategies.
Correlation between bony structures of the posterior cranial fossa and the occurrence of hemifacial spasm
Authors: Tang Tianjin , Yang Wenqiang , Wang Qi , Yu Yanbing , Zhang Li 
Published: July 2024

ObjectiveTo quantitatively study the measurement data related to the bony posterior cranial fossa and explore the correlation between bony posterior cranial fossa morphology and the occurrence of hemifacial spasm.MethodsA total of 50 patients with hemifacial spasm who attended the Department of Neurosurgery of China-Japan Friendship Hospital from October 2021 to February 2022 were included, and 60 patients with minor head trauma excluding skull fracture and intracranial abnormalities were included as controls. Cranial multilayer spiral CTs (MSCTs) were performed in both groups, and multiplanar reconstruction (MPR) was used as a postprocessing method to measure data related to the posterior cranial fossa in both groups.ResultsCompared with the control group, the anteroposterior diameter (labeled AB) and the height (labeled BE) of the bony posterior cranial fossa, the anteroposterior diameter of the foramen magnum (labeled BC), the length of the clivus (labeled AB), and the length of the posterior occipital (labeled CD) in the HFS group were all reduced, and the differences were statistically significant. BE is positively correlated with AB and CD, with a stronger correlation observed between BE and AB (r = 0.487, p &lt; 0.01). AB is negatively correlated with AD (r = −0.473, p &lt; 0.01). The remaining correlations between the data were not statistically significant. There was no overlap in the 95% confidence interval for any of the measurements between the hemifacial spasm group and the control group.ConclusionThere is a correlation between the posterior cranial fossa and hemifacial spasm.
The association between maternal factors and milk hormone concentrations: a systematic review
Authors: Qureshi Raabiah , Fewtrell Mary , Wells Jonathan C. K. , Dib Sarah 
Published: July 2024

BackgroundBreast milk is the gold standard for infant feeding. It is a dynamic biological fluid rich in numerous bioactive components. Emerging research suggests that these components, including hormones, may serve as signals between mother and offspring. From an evolutionary perspective, maternal hormonal signals could allow co-adaptation of maternal and offspring phenotype, with implications for their Darwinian fitness. However, a series of steps need to be considered to establish the role of a component as a signal and this systematic review focuses on one step: ‘Do maternal factors influence the concentration of milk hormones?’ObjectiveTo systematically review human studies which analyze the association between maternal factors and the concentration of hormones in breast milk.MethodsThree databases were searched for studies reporting the association of maternal factors including body mass index (BMI), weight, fat mass, age, ethnicity, smoking with hormones such as adiponectin, leptin, insulin, ghrelin, and cortisol in breast milk.ResultsThirty-three studies were eligible for inclusion. Maternal BMI was positively associated with milk leptin (20/21 studies) and with milk insulin (4/6 studies). Maternal weight also displayed a positive correlation with milk leptin levels, and maternal diabetes status was positively associated with milk insulin concentrations. Conversely, evidence for associations between maternal fat mass, smoking, ethnicity and other maternal factors and hormone levels in breast milk was inconclusive or lacking.ConclusionCurrent evidence is consistent with a signaling role for leptin and insulin in breast milk, however other steps need to be investigated to understand the role of these components as definitive signals. This review represents a first step in establishing the role of signaling components in human milk and highlights other issues that need to be considered going forward.
Idiopathic giant adrenal calcification: a rare case report
Authors: Ji Zhiqiang , Song Dalong , Zuo Hua , Chen Xiaolong , Ji Wei , Yang Jiajun , Wang Qing , Jiang Kehua 
Published: July 2024

BackgroundWe describe a rare case of giant adrenal calcification as the main cause of sudden onset epigastric pain in a 57-year-old female patient.Case descriptionComputed tomography (CT) of the whole abdomen in this patient showed calcified foci measuring approximately 7.8 × 5.4 × 7.1 cm in the hepatorenal recess, and no enhancement effect was seen. Secondary causes of adrenal calcification in this patient were ruled out, and a rare diagnosis of a primary giant adrenal calcification was made. Subsequently, the right adrenal gland and calcified mass were completely resected. The calcification did not recur during 6 months of follow up.ConclusionsAlthough other cases of adrenal calcification of unknown origin have been reported, cases of giant idiopathic adrenal calcification are rare. In this case, huge calcification of the right adrenal gland caused abdominal pain, which disappeared after the mass was excised. The etiology, pathogenesis, clinical symptoms, and prognosis of idiopathic adrenal calcification are still unclear. Additional case reports are needed to gain a better understanding of the diagnosis and treatment of this condition.
Comparative evaluation of imaging methods for prognosis assessment in esophageal squamous cell carcinoma: focus on diffusion-weighted magnetic resonance imaging, computed tomography and esophagography
Authors: Li Yang , Su Xiaohua , Shang Yuguang , Liu Hui , Wang Weishuai , Zhang Andu , Shi Gaofeng 
Published: July 2024

ObjectiveTo identify the most sensitive imaging examination method to evaluate the prognosis of esophageal squamous cell carcinoma (ESCC).Materials and methodsThirty patients with esophageal squamous cell carcinoma (ESCC) participated in the study and underwent chemoradiotherapy (CRT). They were divided into two groups based on their survival status: the survival group and non-survival group. The diagnostic tests were utilized to determine the most effective imaging examination method for assessing the prognosis.Results1. There were no significant differences in tumor length shown on esophagography or computed tomography (CT) or the maximal esophageal wall thickness shown on CT at the specified time points between the two groups. 2. The tumor length on diffusion-weighted imaging (DWI) in the survival group was significantly lower than in the non-survival group at the end of the sixth week of treatment (P=0.001). The area under the ROC curve was 0.840 (P=0.002), and the diagnostic efficiency was moderately accurate. 3. The apparent diffusion coefficient (ADC) values of the survival group were significantly higher than those in the non-survival group at the end of the fourth week and sixth week of treatment (both P&lt;0.001). Areas under the curve were 0.866 and 0.970, with P values of 0.001 and &lt;0.001 and good diagnostic accuracy. Cox regression analyses indicated the ADC at the end of the sixth week of treatment was an independent risk factor.ConclusionsCompared with esophagography and CT, DW-MRI has certain advantages in predicting the prognosis of ESCC.
A systematic review of prenatally diagnosed vein of Galen malformations: prenatal predictive markers and management from fetal life to childhood
Authors: Di Meglio Lavinia , Sica Giordana , Toscano Paolo , Orlandi Giuliana , Manzo Luigi , Mazzarelli Laura Letizia , Sica Carmine , Di Meglio Aniello 
Published: July 2024

IntroductionVein of Galen malformations (VGMs) account for less than 1% of all intracranial vascular malformations. However, in fetal and pediatric populations, they represent the most common vascular malformation of the brain. For the effective management of this condition, an optimal knowledge of its prenatal and postnatal clinical features is mandatory.MethodsArticles published between 1 January 2003 and 31 January 2024, reported in PubMed and EMBASE, were evaluated for a systematic review analyzing the prenatal and postnatal features and management of fetal VGMs.ResultsThirty-one papers reporting information on 51 prenatally diagnosed VGMs were included. The most common prenatal features were fetal hydrocephalus (39%) and cardiomegaly (56%). Postnatal data for 43 VGM cases are described. The overall mortality was 58.14%. In total, 77.78% of the survivors had normal development.ConclusionsClose follow-up and a multidisciplinary approach are mandatory to manage this condition. Our study aimed to provide a guide for gynecologists, neonatologists, cardiologists, and neuroradiologists.
Intravenous esketamine as an adjuvant for sedation/analgesia outside the operating room: a systematic review and meta-analysis
Authors: Kan Ziheng , Min Weixiang , Dai Yuee , Zhang Peng 
Published: July 2024

BackgroundThis study was conducted to evaluate the safety and efficacy of intravenous esketamine as an adjuvant for sedation or analgesia outside the operating room in adults and children.MethodPubMed, Embase, Cochrane Central Register of Controlled Trials (CENTRAL), Web of Science, and Scopus were searched for potential randomized controlled studies randomized controlled trials comparing drug combinations of esketamine to any other single or combination drug regimens for sedation or analgesia outside the operating room.ResultsTwenty-five studies with a total of 3,455 participants were included in this review. The pooled results of adults showed that compared with drug regimens of the control group, intravenous esketamine combinations were significantly associated with decreased risk of oxygen desaturation (RR = 0.49, 95% CI = [0.34, 0.70]); hypotension (RR = 0.38, 95% CI = [0.31, 0.46]); bradycardia (RR = 0.23, 95% CI = [0.12, 0.43]); injection pain (RR = 0.37, 95% CI = [0.25, 0.53]); body movement (RR = 0.60, 95% CI = [0.41, 0.88]); and propofol consumption (SMD = −1.38, 95% CI = [−2.64, −0.11]), but an increased risk of psychiatric symptoms (RR = 3.10, 95% CI = [2.11, 4.54]) (RR = relative risk; CI = confidence intervals; SMD = standardized mean difference). Subgroup analysis showed that only the combination of esketamine and propofol significantly reduced the above incidence of respiratory and cardiovascular adverse events in adults. In addition, the pooled results of children showed that compared with drug regimens of the control group, esketamine and propofol co-administration significantly reduced the risk of hypotension (RR = 0.59, 95% CI = [0.37, 0.95]) but increased the risk of visual disturbance (RR = 6.62, 95% CI = [2.18, 20.13]) and dizziness (RR = 1.99, 95% CI = [1.17, 3,37]). Subgroup analysis indicated that esketamine&gt;0.5 mg/kg significantly reduced the incidence of hypotension, but increased the risk of dizziness in children.ConclusionIntravenous use of esketamine, particularly in combination with propofol, may improve the safety and efficacy of sedation and analgesia outside the operating room, although the potential for psychiatric side effects warrants attention. Future research is recommended to investigate the role of esketamine with agents other than propofol.