Renal Fanconi syndrome (FS) is a rare renal manifestation of primary Sjögren's syndrome (pSS). This study aims to analyze the clinical and prognostic characteristics of patients with pSS-associated renal FS (pSS-FS) and provide insights for clinical management.

OBJECTIVE: To assess the association of microribonucleic acid (miRNA) gene polymorphisms with the risk and clinicopathological characteristics of Crohn's disease (CD) and the influence of miRNA gene variants on the response to ustekinumab (UST) treatment among CD patients. METHODS: From January 2018 to February 2025, 312 patients diagnosed with CD and 527 gender- and age-matched normal controls were selected as the study subjects at the Department of Gastroenterology of the Second Affiliated Hospital of Wenzhou Medical University. Genotypes of miR-155 (rs767649), miR-21 (rs13137), miR-124 (rs531564) and miR-146a (rs57095329, rs2431697) were determined with multiplex polymerase chain reaction-ligase detection reaction (PCR-LDR) technique. The patients were divided into different subgroups according to the Montreal Classification Criteria for CD. Harvey-Bradshaw index (HBI) and simplified endoscopic score for CD were respectively applied to assess the clinical and endoscopic disease activity of CD. Unconditional logistic regression model was employed to analyze the distribution of miRNA gene polymorphisms between the two groups, as well as their influence on the clinicopathological characteristics of CD patients. Among them, 185 CD patients received first-line UST treatment, with the first sufficient dose of UST (6 mg/kg) administered intravenously. Based on the changes in HBI at week 8, the response of patients to UST treatment was evaluated. Unconditional logistic regression model was employed to analyze the distribution of miRNA gene polymorphisms between clinically responsive group (the decline of HBI ≥ 3 scores compared to week 0) and non-responsive group. All of the P values were adjusted by Bonferroni correction. This study has been approved by the Medical Ethics Committee of the Second Affiliated Hospital of Wenzhou Medical University (Ethics No.: 2025-K-12-01). RESULTS: No significant difference was found in the distribution of miRNA gene polymorphisms between the two groups (all P > 0.05). The variant genotype (TC+CC) of rs2431697 was more common among patients with terminal ileal-type and ileocolic-type CD than those with the colonic-type CD (OR = 4.98, 95%CI: 1.49~16.68, P = 0.009, adjusted P = 0.045). However, the opposite conclusion was drawn for the homozygous variant genotype (TT) of rs13137 and variant genotype (GC+CC) of rs531564 (OR = 0.37, 95%CI: 0.18~0.76, P = 0.007, adjusted P = 0.035; OR = 0.36, 95%CI: 0.18~0.73, P = 0.004, adjusted P = 0.020). Compared to patients with non-stricturing and penetrating CD, the variant genotype (AG+GG) and variant allele (G) of rs57095329 were more common in those with stricturing and penetrating CD (OR = 4.06, 95%CI: 2.46~6.71, P < 0.001, adjusted P < 0.005; OR = 3.12, 95%CI: 2.06~4.73, P < 0.001, adjusted P < 0.005). However, the frequencies of variant genotype (AT+TT) and variant allele (T) of rs13137 were lower among patients with stricturing and penetrating CD than in those without (OR = 0.25, 95%CI: 0.15~0.41, P < 0.001, adjusted P < 0.005; OR = 0.45, 95%CI: 0.33~0.63, P < 0.001, adjusted P < 0.005). Additionally, the variant genotype (AG+GG) and variant allele (G) of rs57095329 were more common among those with moderately to severely endoscopic activity than those with mildly endoscopic activity (OR = 2.01, 95%CI: 1.19~3.42, P = 0.009, adjusted P = 0.045; OR = 2.04, 95%CI: 1.28~3.25, P = 0.003, adjusted P = 0.015). In total 117 cases had shown clinical response by week 8, while 68 cases showed no response. Compared with t he clinically non-responsive group, the variant genotype (TC+CC) and variant allele (C) of rs2431697 were more common in the clinically responsive group (OR = 3.86, 95%CI: 1.80~8.32, P = 0.001, adjusted P = 0.005; OR = 2.60, 95%CI: 1.34~5.06, P = 0.005, adjusted P = 0.025). However, the variant genotype (TA+AA) of rs767649 was less frequent in the clinically responsive group than the non-responsive group (OR = 0.40, 95%CI: 0.21~0.74, P = 0.004, adjusted P = 0.020). The same conclusion was drawn for the variant genotype (AT+TT) and variant allele (T) of rs13137 when the clinically responsive group was compared with the non-responsive group (OR = 0.30, 95%CI: 0.14~0.63, P = 0.002, adjusted P = 0.010; OR = 0.54, 95%CI: 0.35~0.82, P = 0.005, adjusted P = 0.025). CONCLUSION Genetic polymorphisms of miRNAs are not associated with the risk of developing CD. The miR-146a (rs57095329) variant may increase the endoscopic activity of CD and the risk for stenosis or penetration. However, the miR-146a (rs2431697) variant may increase the risk of ileal involvement. The miR-21 (rs13137) variant may reduce the risk of ileal involvement and the risk of stenosis or penetration. The miR-124 (rs531564) variant may reduce the risk of ileal involvement. Among patients receiving UST treatment, the miR-146a (rs2431697) variant may increase the clinical response by week 8. However, both the miR-155 (rs767649) and miR-21 (rs13137) variants may decrease the clinical response by week 8.
Humans ; MicroRNAs/genetics* ; Crohn Disease/pathology* ; Male ; Female ; Adult ; Polymorphism, Single Nucleotide ; Middle Aged ; Asian People/genetics* ; Genetic Predisposition to Disease ; Genotype ; Young Adult ; Case-Control Studies ; Adolescent ; East Asian People

Peri-implant keratinized mucosa (PIKM) augmentation refers to surgical procedures aimed at increasing the width of PIKM. Consensus reports emphasize the necessity of maintaining a minimum width of PIKM to ensure long-term peri-implant health. Currently, several surgical techniques have been validated for their effectiveness in increasing PIKM. However, the selection and application of PIKM augmentation methods may present challenges for dental practitioners due to heterogeneity in surgical techniques, variations in clinical scenarios, and anatomical differences. Therefore, clear guidelines and considerations for PIKM augmentation are needed. This expert consensus focuses on the commonly employed surgical techniques for PIKM augmentation and the factors influencing their selection at second-stage surgery. It aims to establish a standardized framework for assessing, planning, and executing PIKM augmentation procedures, with the goal of offering evidence-based guidance to enhance the predictability and success of PIKM augmentation.
Humans ; Consensus ; Dental Implants ; Mouth Mucosa/surgery* ; Keratins

Objective:To compare the efficacy of the detection kit based on MicroDrop microdroplet digital PCR platform that can identify mycoplasma pneumonia and common drug-resistance mutation,and throughout targeted next-generation sequencing(tNGS)in detecting common drug-resistance mutations of mycoplasma pneumonia.Methods:A total of 300 samples of clinical respiratory tract of pneumonia inpatients at Guangdong Provincial People's Hospital between 2023 and 2024 were collected.Both the detection kit for drug-resistance mutation of mycoplasma pneumoniae and the tNGS method were employed to detect drug-resistance mutation genes.For samples with inconsistent results,Sanger sequencing was used for verification.Results:For the 300 samples,the detection rates of positive mycoplasma pneumonia of the detection kit for drug-resistance mutation of mycoplasma pneumoniae and the tNGS method were respectively 87.00%and 78.67%,with a Kappa value of 0.711,indicating a relatively high level of agreement between the two methods.Among 25 samples with inconsistent results,Sanger sequencing was employed for validation.The results revealed that for samples with low-frequency gene mutations,the reagent kit maintained reliable detection capability,whereas tNGS exhibited missed detections.Thus,the reagent kit demonstrates superior performance in detecting low-frequency mutation samples.Conclusion:The detection rate of low-frequency mutation samples by the digital PCR-based mycoplasma pneumoniae drug-resistance mutation detection kit is higher than that of the tNGS method.This approach helps enhance the accuracy of detection results,providing a rapid and precise means of detecting drug-resistance genes for clinical diagnosis and treatment.

Objective:To reassess the pathogenicity of copy number variants (CNVs) involving chromosomal microdeletions and microduplications classified as variants of uncertain significance (VUS).Methods:This retrospective study analyzed 1 882 pregnant women who underwent invasive prenatal diagnosis for chromosomal microarray analysis (CMA) at the First Medical Center, Chinese PLA General Hospital between January 1, 2018, and December 31, 2022. The results were classified according to the American College of Medical Genetics and Genomics guidelines, with 82 fetuses rated as VUS selected for the study. We analyzed invasive prenatal diagnostic indications, followed up on fetal ultrasound findings, parental origin identification results, and pregnancy outcomes, and reclassified VUS CNVs based on the latest evidence. Descriptive statistical analysis was applied to the data.Results:(1) Among the 82 fetuses with VUS CNVs, prenatal diagnostic indications included fetal structural abnormalities detected by ultrasound (21 cases, 25.6%), abnormal non-invasive prenatal testing (NIPT) results (12 cases, 14.6%), high-risk serum screening (seven cases, 8.5%), advanced maternal age (≥35 years at expected delivery, 28 cases, 34.1%), and other indications (14 cases, 17.1%). Sixteen cases (19.5%) exhibited abnormal phenotypes, with seven pregnancies terminated due to severe structural abnormalities detected by prenatal ultrasound. Seventy-five live births were followed up for 25 (13-66) months. (2) Among the 82 cases, five fetuses had two VUS CNVs detected by CMA, while the remaining 77 had only one, totaling 87 VUS CNVs. Of these, 63 (72.4%) were chromosomal microduplications and 24 (27.6%) were chromosomal microdeletions. The size of the CNV segments ranged from 0.85 (0.05-5.61) Mb, with 82 segments less than 2 Mb. Parental origin identification was refused by 44 cases (53.7%), while 38 (46.3%) underwent the test, revealing eight (21.0%) de novo variants and 30 (78.9%) inherited from either parent (12 maternal and 18 paternal). (3) Among the 87 VUS CNVs, the ratings of 11 CNVs (12.6%) changed after re-evaluation. This included one 4p16.2 microdeletion and two 15q11.2 microdeletions being upgraded to pathogenic, one 16p13.11 microduplication being upgraded to likely pathogenic, one Xp22.31 microduplication and two 2q13 microdeletions being downgraded to likely benign, and four Xp22.31 microduplications being downgraded to benign. (4) Among the 16 fetuses with abnormal phenotypes, seven with prenatal abnormalities terminated pregnancies, including six with structural abnormalities and one with severe fetal growth restriction. After re-evaluation, one case was upgraded to pathogenic, while six remained VUS. Nine live births with postnatal abnormal phenotypes showed no change in classification after re-evaluation. Among the 66 cases (80.5%) without abnormal phenotypes, 10 had their classifications changed after re-evaluation. Conclusions:Fetuses with VUS CNVs often exhibit no significant abnormal phenotypes and have a relatively favorable prognosis, however, further floow-up is still needed. Parental origin identification can provide valuable insights for genetic counseling.

Objective To investigate the expression levels and mutation status of phosphatidylinositol-4,5-bisphosphate3-kinase catalytic subunit alpha(PIK3CA)in endometrial cancer(EC)and evaluate its association with lymph node metastasis in EC.Methods We retrosepctively collected and analyzed EC genetic mutation testing data submitted to the Molecular Detection Center,The First Affiliated Hospital of Chongqing Medical University between July 2020 and June 2022.The mutation rate of PIK3CA gene was calculated based on the sequencing results of EC patients,and the correlation between PIK3CA mutations and clinical pathological parameters,as well as protein expression consistency,was analyzed accordingly.Results A total of 97 EC patients were enrolled in this study,and PIK3CA mutations were identified in approximately 48.5％(47 out of 97 cases).The rate of lymph node metastasis in patients with PIK3CA mutations was higher than that in patients with wild-type PIK3CA(21.3％vs.6.0％,P=0.027).Findings from univariate and multivariate logistic analyses indicated that histological subtype Ⅱ(odds ratio[OR]=5.51;95％CI,1.08-28.06;P=0.040),positive result for lymphovascular space invasion(LVSI)(OR=7.96;95％CI,1.37-46.44;P=0.021),and PIK3CA mutation(OR=8.58;95％CI,1.51-48.84;P=0.015)were independent risk factors for lymph node metastasis in EC.In addition,the receiver-operating characteristic(ROC)curves demonstrated that the combined use of clinicopathological parameters and PIK3CA mutations could more accurately predict lymph node metastasis in EC,with an area under the curve of 0.824(95％CI,0.678-0.970).It is noteworthy that there was a high consistency between PIK3CA mutations and its protein expression,and EC patients with positive expression of PIK3CA protein had a higher rate of lymph node metastasis(53.8％vs.9.1％,P=0.078).Conclusion PIK3CA somatic mutations are strongly correlated with lymph node metastasis in EC.

Abstract To investigate the effects of exercise on gut microbiota(GM) among children with autism spectrum disorder(ASD)，the review provides an in depth summary of the three core biological pathways through which exercise modulates the GM: repairing the integrity of the intestinal barrier to inhibit lipopolysaccharide mediated neuroinflammation; optimizing key metabolites, such as short chain fatty acids, to reshape gut-brain communication; synergistically regulating the tryptophan-kynurenine metabolic pathway and vagus nerve signaling to balance neurotransmitters. These interconnected pathways not only alleviate gastrointestinal discomfort but also provide a solid biological foundation for improving the core behavioral symptoms of ASD, such as social deficits and repetitive behaviors. Future research should focus on establishing standardized exercise intervention protocols, validating the efficacy of these key biological pathways using multi omics approaches, and exploring combined intervention strategies. The results of corollary studies will provide a more robust scientific basis for precision rehabilitation of children with ASD.

Hepatocellular carcinoma is the most common type of primary liver cancer. Many patients who have been diagnosed with hepatocellular carcinoma are already at an advanced stage, leading to very limited treatment options and poor prognosis. Therefore, the key to improving prognosis is early-stage diagnosis. In recent years, with deeper analysis of the underlying biological mechanisms of HCC, new diagnostic methods have emerged, including emerging serum markers, liquid biopsy, molecular diagnostics, and imaging techniques. This article reviews and analyzes the research progress on early-stage screening and explores their value and application prospects in the early predictive diagnosis of HCC..

Objective:To investigate the distribution of CGG repeat numbers in the FMR1 gene among reproductive-age women in China, providing data reference for carrier screening and genetic counseling of Fragile X syndrome. Methods:This cross-sectional study recruited 16 610 reproductive-age women from 12 medical institutions between July 2022 and October 2023. Peripheral venous blood samples (3 mL) were collected, and genomic DNA was extracted. The number of CGG repeats in the FMR1 gene was determined using the triplet-primed polymerase chain reaction (TP-PCR) combined with capillary electrophoresis technology. Statistical analyses were performed to assess the prevalence and distribution of CGG repeat expansions. Results:Among 16 610 women of childbearing age, 5 684 (34.220%) women had the same number of CGG repeats in the two alleles of FMR1 gene, and 10 926 (65.780%) women had different numbers of repeats in the two alleles. Among the 33 220 FMR1 alleles in 16 610 women of reproductive age, the most common CGG repeat numbers were 29 [48.645% (16 160/33 220)] and 30 [26.276% (8 729/33 220)], while the most frequent CGG genotype was CGG 29/29 [24.726% (4 107/16 610)]. The CGG repeat numbers of FMR1 gene were normal in 16 498 women (99.326%). Among the 112 women (0.674%) with CGG repeat abnormities, 96 (0.578%) women were classified as intermediate carriers, 15 (0.090%) as premutation carriers, and 1 (0.006%) as a full mutation carrier, whose CGG genotype was (36, >200). Conclusion:In the general reproductive-age female population in China, the normal CGG repeat numbers of the FMR1 gene account for 99.326%, while the intermediate carrier rate is 0.578%, and the combined carrier rate of the premutation and full mutation types is 0.096%.

Objective:To understand the quality of adverse drug reaction (ADR) reports in Lu′an Hospital of Traditional Chinese Medicine (our hospital) and its change trend in recent years, and explore the methods of objectively evaluating the quality of ADR reports.Methods:According to the 20 evaluation indicators of the ADR report quality evaluation scoring table in the Appendixes 5 of Provisions for Adverse Drug Reaction Reporting and monitoring, the ADR reports submitted to the National Center for ADR Monitoring from 2013 to 2022 by our hospital were evaluated. The weighted technique for order preference by similarity to ideal solution (TOPSIS) combined with rank-sum ratio (RSR) model was used to rank the quality of ADR reports into the following 5 grades: excellent, good, medium, qualified and unqualified, according to the weight of each evaluation index. The quality grading results were tested to determine the rationality of grading. Results:A total of 3 947 ADR reports were included in the analysis, including 1 361 new/serious ADR reports (34.5%), and the average score of quality evaluation index was 87.9. After 2016, the number of ADR reports and the proportion of reports with scores ≥ 80 increased significantly. Among the 20 evaluation indicators, 10 had a high pass rate, 7 had a medium or upper pass rate, and 3 had a low pass rate. The TOPSIS-RSR model was used to classify the quality of ADR reports. The overall proportions of excellent, good, moderate, qualified, and unqualified reports were 4.7% (186/3 947), 23.0% (908/3 947), 45.3% (1 787/3 947), 23.4% (925/3 947), and 3.6% (141/3 947), respectively. The homogeneity of variance test showed that each grade met the homogeneity of variance, and the analysis of variance results showed that the differences between every 2 grades were statistically significant ( P<0.001), indicating that the quality grading was reasonable. Conclusions:After 2016, the quantity and quality of ADR reports in our hospital have significant improvement, but there are still some evaluation indicators with low pass rate. Using the weighted TOPSIS-RSR model to grade the quality of ADR reports can more objectively reflect the quality of ADR reports.