OBJECTIVE: To explore the genetic etiology for a pregnant woman with a history of multiple adverse pregnancies and assess the phenotype-genotype correlation of 22q11.2 microduplication syndrome in her family. METHODS: Amniotic fluid sample was taken from a pregnant woman for whom non-invasive prenatal screening indicated chromosome 22 abnormalities in the fetus. Peripheral blood samples from the woman, her brother and parents were collected for high-throughput low-depth whole genome sequencing (CNV-seq). A pedigree traceability analysis of the results was conducted in conjunction with analysis of clinical manifestation. Relevant literature (from establishment to March 2025) was systematically searched. This study was approved by the Medical Ethics Committee of Mianyang Maternal and Child Health Care Hospital (Ethics No.: Lun Shen [2024]009). RESULTS: CNV-seq revealed that the fetus had harbored a 6.02 Mb duplication at 22q11.21q11.23. Karyotyping confirmed it as 46,X?dup(22)(q11.2). Pedigree verification demonstrated that the pregnant woman, her brother and mother had all carried the same duplication. Phenotypic analysis of the affected family members showed classic features of 22q11.2 microduplication syndrome, including hypernasal speech, low nasal bridge, congenital heart disease, and cognitive impairment. A total of 44 cases with full information (including three patients from this pedigree) were included in the analysis. The penetrance of 22q11.2 duplication was approximately 29.5% (13/44), and 52.3% (23/44) of the cases had inherited the variant from a phenotypically normal parent. CONCLUSION This study has identified the genetic basis for the woman's recurrent adverse pregnancies and phenotypic abnormalities in her family members. The scoliosis identified in her younger brother has not been previously reported, thereby may enrich the clinical phenotype of this syndrome. For fetuses identified with a 22q11.2 microduplication, detailed fetal imaging is recommended, and genetic counseling should be provided to the couples.
Humans ; Female ; Pregnancy ; Prenatal Diagnosis/methods* ; Chromosome Duplication/genetics* ; Male ; Pedigree ; DiGeorge Syndrome/diagnosis* ; Adult ; Chromosomes, Human, Pair 22/genetics* ; Abnormalities, Multiple

The Consolidated Standards of Reporting Trials (CONSORT) statement aims to enhance the quality of reporting for randomized controlled trial (RCT) by providing a minimum item checklist. It was first published in 1996, and updated in 2001 and 2010, respectively. The latest version was released in April 2025, continuously reflecting new evidence, methodological advancements, and user feedback. CONSORT 2025 includes 30 essential checklist items and a template for a participant flow diagram. The main changes to the checklist include the addition of 7 items, revision of 3 items, and deletion of 1 item, as well as the integration of multiple key extensions. This article provides a comprehensive interpretation of the statement, aiming to help clinical trial staff, journal editors, and reviewers fully understand the essence of CONSORT 2025, correctly apply it in writing RCT reports and evaluating RCT quality, and provide guidance for conducting high-level RCT research in China.

OBJECTIVES: This study aims to explore the current status and risk factors of oral health-related quality of life OHRQoL in patients with mental disorders and provide evidence for effective intervention measures. METHODS: A total of 397 patients diagnosed with mental illness were selected by convenience sampling, and investigation was carried out using general data questionnaire, health literacy in dentistry-14 (HeLD-14), oral health impact profile-14 (OHIP-14), and oral health status checklist. RESULTS: The total score of OHIP-14 in patients with mental disorders was 8(2, 14). The score of HeLD-14 was negatively correlated with the score of OHIP-14 (r=-0.142, P<0.01). The results of multiple linear regression showed that six variables including annual family income, schizophrenia, sweets, frequency of visits to the dentist, dental caries, and missing teeth affected OHRQoL of patients with mental disorders (P<0.05). CONCLUSIONS The poor OHRQoL of psychiatric patients is associated with many factors. Medical personnel should pay attention to their oral health problems and develop targeted oral care programs throughout the course of disease to improve oral health and related quality of life of patients.
Humans ; Quality of Life ; Oral Health ; Mental Disorders ; Risk Factors ; Surveys and Questionnaires ; Male ; Female ; Dental Caries ; Adult ; Middle Aged ; Schizophrenia

OBJECTIVES: This study aimed to construct a risk prediction model for the occurrence of the demora-lization syndrome in patients with oral cancer and provide a scientific basis for the prevention of this syndrome in patients with oral cancer and the development of personalized care programs. METHODS: A total of 486 patients with oral cancer in West China Hospital of Stomatology of Sichuan University and Sun Yat-sen Memorial Hospital of Sun Yat-sen University from 2024 March to July were selected by convenience sampling. We integrated clinical data and evidence from previous studies to identify the key variables affecting the demoralization syndrome in patients with oral cancer. The 486 patients were divided into a training set and a validation set in an 8∶2 ratio. A clinical risk prediction model was established based on the individual data of 365 patients in the development cohort. Through least absolute shrinkage and selection operator (LASSO) regression, a moderate to severe risk prediction model of demoralization syndrome in oral cancer was constructed, and a clinical machine-learning nomogram was constructed. Bootstrap resampling was used for internal validation. The data of 121 patients in the validation cohort were externally validated. RESULTS: The incidence of the demoralization syndrome in patients with oral cancer was 405 cases (83.3%), of which 279 cases (57.4%) were mild, 176 cases (36.2%) were moderate, and 31 cases (6.4%) were severe. The core model, including patient education level, disease understanding, and MDASI-HN score, was used to predict the risk of outcome. Internal validation of the model yielded C statistic of 0.783 6 (95% CI: 0.78-0.87), beta of 0.843 4, and calibration intercept of -0.040 6. Through external validation, the validation set C statistic was 0.80 (95%CI: 0.71-0.87), beta was 0.80, and calibration intercept was -0.08. CONCLUSIONS Our risk prediction mo-del of the demoralization syndrome in patients with oral cancer performed robustly in validation cohorts of different nur-sing environments. The model has good correction and good discrimination and can be used as an evaluation and prediction item at admission.
Humans ; Mouth Neoplasms/complications* ; Male ; Female ; Nomograms ; Middle Aged ; Syndrome ; Aged ; Adult ; Risk Factors ; Risk Assessment ; Machine Learning

Objective:To investigate the protection effect of a new 360-degree radiation protection and position fixation device on the pelvic cavity during chest CT examination.Methods:Three shielding methods were applied to the pelvic cavity of the standard simu-lated human model,i.e.,no shielding(group A),traditional 180-degree front protection with a lead square towel(group B),and 360-degree protection with a new protection device(group C).Philips IQon Spectral CT was used to perform chest CT scan at a tube voltage of 80 kVp,100 kVp,and 120 kVp,respectively,and the cumulative radiation doses from the front,side,and back of the pelvic cavity were measured and analyzed statistically.Results:Compared with groups A and B,group C had significantly lower cumulative radiation doses of the front,side,and back of the pelvic cavity in the simulated human model(all P<0.05);at the tube voltages of 80,100,and 120 kVp,the cumulative dose of the pelvic cavity in group C was reduced by 85%,84%,and 67%,respectively,compared with that in group B,and was reduced by 88%,87%,and 76%,respectively,compared with that in group A.Compared with group A,group B had significant reductions in the radiation doses of the side and back of the pelvic cavity(P<0.05)and a significantly higher radiation dose of the front of the pelvic cavity,which was increased by 19%,23%,and 10%,respectively,at the tube voltages of 80,100,and 120 kVp,and there were significant differences in all tube voltage conditions(P<0.05)except under the tube voltage condition of 120 kVp(P=0.190).In addition,after the application of the device for protection,the reduction rate of pelvic radiation dose under the tube voltages of 80 and 100 kVp was higher than that under the tube voltage of 120 kVp.Conclusion:The new 360-degree radiation protection and position fixation device can significantly reduce the cumulative radiation dose of pelvic organs during chest CT scan,and it holds promise for clinical application due to its characteristics of conve-nient wearing and fixed patient position.

[This corrects the article DOI: 10.1016/j.apsb.2019.01.013.].

ObjectiveTo establish a model that can quickly identify the aroma components in different parts of Nardostachys jatamansi， so as to provide a quality control basis for the market circulation and clinical use of N. jatamansi. MethodsHeadspace solid-phase microextraction-gas chromatography-mass spectrometry（HS-SPME-GC-MS） combined with Smart aroma database and National Institute of Standards and Technology（NIST） database were used to characterize the aroma components in different parts of N. jatamansi， and the aroma components were quantified according to relative response factor（RRF） and three internal standards， and the markers of aroma differences in different parts of N. jatamansi were identified by orthogonal partial least squares-discriminant analysis（OPLS-DA） and cluster thermal analysis based on variable importance in the projection（VIP） value >1 and P<0.01. The odor data of different parts of N. jatamansi were collected by Heracles Ⅱ Neo ultra-fast gas phase electronic nose， and the correlation between compound types of aroma components collected by the ultra-fast gas phase electronic nose and the detection results of HS-SPME-GC-MS was investigated by drawing odor fingerprints and odor response radargrams. Chromatographic peak information with distinguishing ability≥0.700 and peak area≥200 was selected as sensor data， and the rapid identification model of different parts of N. jatamansi was established by principal component analysis（PCA）， discriminant factor alysis（DFA）， soft independent modeling of class analogies（SIMCA） and statistical quality control analysis（SQCA）. ResultsThe HS-SPME-GC-MS results showed that there were 28 common components in the underground and aboveground parts of N. jatamansi， of which 22 could be quantified and 12 significantly different components were screened out. Among these 12 components， the contents of five components（ethyl isovalerate， 2-pentylfuran， benzyl alcohol， nonanal and glacial acetic acid，） in the aboveground part of N. jatamansi were significantly higher than those in the underground part（P<0.01）， the contents of β-ionone， patchouli alcohol， α-caryophyllene， linalyl butyrate， valencene， 1，8-cineole and p-cymene in the underground part of N. jatamansi were significantly higher than those in the aboveground part（P<0.01）. Heracles Ⅱ Neo electronic nose results showed that the PCA discrimination index of the underground and aboveground parts of N. jatamansi was 82， and the contribution rates of the principal component factors were 99.94% and 99.89% when 2 and 3 principal components were extracted， respectively. The contribution rate of the discriminant factor 1 of the DFA model constructed on the basis of PCA was 100%， the validation score of the SIMCA model for discrimination of the two parts was 99， and SQCA could clearly distinguish different parts of N. jatamansi. ConclusionHS-SPME-GC-MS can clarify the differential markers of underground and aboveground parts of N. jatamansi. The four analytical models provided by Heracles Ⅱ Neo electronic nose（PCA， DFA， SIMCA and SQCA） can realize the rapid identification of different parts of N. jatamansi. Combining the two results， it is speculated that terpenes and carboxylic acids may be the main factors contributing to the difference in aroma between the underground and aboveground parts of N. jatamansi.

Objective To compare the gut fungal composition between gout patients and healthy individuals through high-throughput sequencing of ribosomal DNA internal transcribed spacer 1(ITS1).Methods Gout patients and healthy volunteers who visited our hospital from January 2023 to December 2024 were enrolled in this study.Then based on established medical guidelines,the gout patients were categorized into 3 groups:Group H(asymptomatic hyperuricemia,n=14),Group G(acute gouty arthritis,n=14),and Group I(intercritical period of gouty arthritis,n=15),and the healthy individuals were assigned into Group N(n=9).Fecal samples were collected from all the participants to undergo ITS1 sequencing analysis.The differences in diversity and composition of gut mycobiome,and FunGuild-derived fungal functions and nutritional status were compared among the 4 groups,and the correlation between the gut mycobiome and clinical indicators was analyzed.Results There were no significant differences in baseline features such as gender,age,glomerular filtration rate(GFR),and levels of serum creatinine(SCr)and serum urea among Group N and other gout groups,but obvious differences were observed in body mass index(BMI),erythrocyte sedimentation rate,and levels of C-reactive protein(CRP),serum uric acid(SUA),and IL-1β and IL-6(P<0.05).In terms of gut fungal diversity,ITS1 analysis showed there were no statistical differences in α-diversity or the principal coordinate analysis(PCoA)of β-diversity among the groups.However,as gout progressed,significant changes were observed in β-diversity indices,indicating a shift in the gut fungal community composition with disease advancement(P<0.05).The phyla Ascomycota,Basidiomycota,and Mucoromycotina were the dominant fungal phyla in all groups.Compared with the other 3 gout groups,the abundance of Pichia was significantly increased in Group N(P<0.05),that of Saccharomyces was in Group H(P<0.05),and that of Starmerella was in Group G(P<0.05).Correlation analysis between the gut mycobiome and clinical indices indicated that the relative abundance of Starmerella was significantly positively correlated with IL-1β(P<0.01)and IL-6(P<0.05).The relative abundance of Pichia was significantly positively correlated with IL-1β and IL-6 levels(P<0.05),and negatively correlated with serum urea level(P<0.05),and the relative abundance of Saccharomyces was negatively correlated with IL-1β and IL-6 levels(P<0.05).Conclusion There exist significant alterations in both the diversity and composition of gut fungi among patients with gout at various stages.Notably,the fluctuations in the relative abundance of Starmerella,Pichia and Saccharomyces appear to correlate with key clinical indicators.

Objective:To establish a preliminary performance validation protocol for the bioinformatics procedure of metagenomic next-generation sequencing (mNGS) in clinical laboratories.Methods:Three types of simulated datasets were designed and the CatⅠ dataset mainly consisted of pathogen reference genomes and human sequences. CatⅠA was a dataset composed of common pathogens mixed with human sequences and was used to evaluate the inclusiveness, accuracy, recall rates, precision, F1-Score, and other indicators of the mNGS bioinformatics procedure. CatⅠB was a dataset composed of closely related species of common pathogens mixed with human sequences, which was used to evaluate the discriminating ability of closely related species of bioinformatics procedure by calculating the detection rates and the relative abundance ratio of closely related species. The real data of 200 clinical samples was selected to construct CatⅡ and the simulated dataset consisted of colonized bacteria, experimental environment bacteria, reagent engineering bacteria, pathogen reference genomes, and human sequences, which was used to evaluate the sensitivity, specificity, and accuracy of bioinformatics pipeline for pathogens detection. The CatⅢ dataset was obtained from the negative bronchoalveolar lavage fluid BALF sequencing data mixed with 20 rare pathogens sequences in order to evaluate the positive detection rates and recall rates of rare pathogens in the bioinformatics analysis.Results:The analysis of the CatⅠA dataset showed that the positive consistency rate, inclusiveness, precision and accuracy of the bioinformatics peocedure under three sequence gradients were all greater than 99%, with a recall rate of 72.31% (95% CI 69.61%-75.01%) and a F1 Score of 82.00% (95% CI 79.77%-84.22%). In the CatⅠB dataset, the closely related species could be effectively detected at all sequence and proportion gradients, and the relative abundance ratio of closely related species was within 2 times of the design ratio except for the coronavirus, haemophilus, primate bocaparvovirus, human respiratory syncytial virus, and eimeria, indicating good ability to identify the closely related species. All the 24 species of pathogens included in CatⅡ dataset were effectively detected, with the sensitivity, specificity, and accuracy all greater than 90%. All rare pathogens were detected in the CatⅢ dataset, with a detection rate of 100%. Conclusions:With the simulated datasets, the performance validation scheme for the mNGS bioinformatics analysis was preliminary established and could evaluate the accuracy of sequence classification, the ability to identify the closely related species, and detection ability of common and rare pathogens, which may provide some references for the construction of mNGS process.

Radiation-induced thrombocytopenia (RIT) faces a perplexing challenge in the clinical treatment of cancer patients, and current therapeutic approaches are inadequate in the clinical settings. In this research, oxymatrine, a new molecule capable of healing RIT was screened out, and the underlying regulatory mechanism associated with magakaryocyte (MK) differentiation and thrombopoiesis was demonstrated. The capacity of oxymatrine to induce MK differentiation was verified in K-562 and Meg-01 cells in vitro. The ability to induce thrombopoiesis was subsequently demonstrated in Tg (cd41:enhanced green fluorescent protein (eGFP)) zebrafish and RIT model mice. In addition, we carried out network pharmacological prediction, drug affinity responsive target stability assay (DARTS) and cellular thermal shift assay (CETSA) analyses to explore the potential targets of oxymatrine. Moreover, the pathway underlying the effects of oxymatrine was determined by Kyoto Encyclopedia of Genes and Genomes (KEGG) enrichment analyses, Western blot (WB), and immunofluorescence. Oxymatrine markedly promoted MK differentiation and maturation in vitro. Moreover, oxymatrine induced thrombopoiesis in Tg (cd41:eGFP) zebrafish and accelerated thrombopoiesis and platelet function recovery in RIT model mice. Mechanistically, oxymatrine directly binds to toll-like receptor 2 (TLR2) and further regulates the downstream pathway stimulator of interferon genes (STING)/nuclear factor-kappaB (NF-κB), which can be blocked by C29 and C-176, which are specific inhibitors of TLR2 and STING, respectively. Taken together, we demonstrated that oxymatrine, a novel TLR2 agonist, plays a critical role in accelerating MK differentiation and thrombopoiesis via the STING/NF-κB axis, suggesting that oxymatrine is a promising candidate for RIT therapy.