OBJECTIVE To study the clinical characteristics and potential risk factors for infection in patients with multiple myeloma （MM） following treatment with bortezomib. METHODS Clinical data were retrospectively collected from MM patients who received bortezomib-based treatment regimens at the Department of Hematology， the Second Affiliated Hospital of Soochow University， from October 2021 to February 2025. The collected data primarily included demographic characteristics， disease characteristics of MM， treatment regimens， occurrence of infections and corresponding management measures， and prophylactic medication use. Univariate and multivariate Logistic regression analyses were conducted to identify potential risk factors for MM complicated with infection. RESULTS Among the 284 MM patients treated with bortezomib， 132 patients （46.5%） experienced at least one infection. The predominant types of infections were respiratory tract infections and gastrointestinal infections. Univariate analysis showed that age at initial diagnosis， pathological classification， and grade of myelosuppression were influencing factors for infection in MM patients （ P ＜0.05）. Further analysis of influencing factors for the two main types of infections revealed that sex， age at initial diagnosis， pathological classification， treatment regimen， and smoking history were influencing factor s for respiratory tract infections in MM patients （ P ＜0.05）； BMI， pathological classification， treatment regimen， and grade of myelosuppression were influencing factors for gastrointestinal infections in MM patients （ P ＜0.05）. Multivariate Logistic regression analysis indicated that age≥70 years and the presence of grade Ⅳ myelosuppression before treatment were risk factors for infection in MM patients， while the IgG-λ type was a protective factor against infection （ P ＜0.05）. CONCLUSIONS The incidence of infection is relatively high in MM patients receiving bortezomib-based treatment regimens， with respiratory and gastrointestinal infections being the most common. Age at initial diagnosis， grade of myelosuppression， and pathological classification are influencing factors for infection in MM patients.

Objective To study the relationship of serum 25-hydroxyvitamin D3[25-(OH)D3],myostatin(MSTN),limb skeletal muscle index(ASMI)with osteopenia(OP)in patients with rheumatoid arthritis(RA)complicated with sarcopenia(SA).Methods A total of 244 RA patients selected as case group,and 123 healthy people who underwent physical examination in our hospital during the same period were selected as control group.The general data,serum levels of 25-(OH)D3,MSTN,ASMI and peripheral blood immune cells were compared among the two groups.The diagnostic value of serum 25-(OH)D3,MSTN and ASMI in RA patients with SA complicated with OP and the correlation between serum 25-(OH)D3,MSTN,ASMI and peripheral blood immune cells were analyzed.Results The levels of serum 25-(OH)D3,peripheral blood regulatory T lymphocyte(Treg)cells and ASMI in the case group were lower than those in the control group,while the levels of serum MSTN,peripheral blood helper T lymphocyte 17(Th17)cells and Th17/Treg were higher than those in the control group(P＜0.05).Among the 244 RA patients,171 had no SA,73 had SA,and the incidence of SA was 29.92％.The levels of serum 25-(OH)D3,peripheral blood Treg cells and ASMI in the SA group were lower than those in the non-SA group,and the levels of serum MSTN,peripheral blood Th17 cells and Th17/Treg were higher than those in the non-SA group(P＜0.05).The levels of serum 25-(OH)D3,peripheral blood Treg cells and ASMI in the OP group were lower than those in the non-OP group,while the levels of serum MSTN,peripheral blood Th17 cells and Th17/Treg were higher than those in the non-OP group(P＜0.05).The area under the curve(AUC)of combined detection of serum 25-(OH)D3,MSTN and ASMI for the diagnosis of OP in RA patients with SA was higher than that of the three alone(P＜0.05).Serum 25-(OH)D3 and ASMI in RA patients with SA complicated with or without OP were negatively correlated with peripheral blood Th17 cell level and Th17/Treg(P＜0.05),and positively correlated with peripheral blood Treg cell level(P＜0.05).The level of serum MSTN was positively correlated with the level of Th17 cells and Th17/Treg in peripheral blood(P＜0.05),and negatively correlated with the level of Treg cells in peripheral blood(P＜0.05).Conclusion The incidence of OP in RA patients with SA is high.At the same time,the occurrence of SA and OP can lead to the decrease of serum 25-(OH)D3,peripheral blood Th17 cell,Th17/Treg and ASMI,and the increase of serum MSTN and peripheral blood Treg cell.The combination detection of 25-(OH)D3,MSTN and ASMI can effectively improve the diagnosis of OP in RA patients with SA,and the levels of the three are significantly correlated with peripheral blood Th17 cells,Treg cells and Th17/Treg.

Objective Human facial morphology is an appearance phenotype with high heritability,high diversity,and complexity.Traditional facial morphological genetic analysis is mostly based on facial landmark measurements,using linear regression for genome-wide association studies,but this method extracts limited facial morphological feature information.This study established an extraction method for multidimensional facial representations and validated the correlation between 473 single-nucleotide polymorphisms(SNPs)previously reported to be significantly associated with facial features and facial representations in the Han Chinese population.Methods After acquiring facial 3D images,3D morphable face models and HR-net network were used to align and quantify the 3D images,obtaining high-density 3D facial point cloud data.After unsupervised clustering of the point cloud,principal component analysis was applied to reduce dimensionality and extract multidimensional morphological phenotypes for each facial region.Based on these multidimensional phenotypes,partial least squares regression(PLSR)and canonical correlation analysis(CCA)were used for genetic association analysis.Results A total of 10 SNPs were validated to be significantly associated with facial morphology in Han Chinese,of which 7 SNPs were validated by the PLSR method,2 SNPs were validated by the CCA method,and 1 SNP was validated by both methods.Conclusion Among the 10 significantly associated SNP sites,9 related facial morphological regions were consistent with previous reports in other populations,indicating that genes affecting complex facial morphology have cross-population effects.

Objective Human facial morphology is an appearance phenotype with high heritability,high diversity,and complexity.Traditional facial morphological genetic analysis is mostly based on facial landmark measurements,using linear regression for genome-wide association studies,but this method extracts limited facial morphological feature information.This study established an extraction method for multidimensional facial representations and validated the correlation between 473 single-nucleotide polymorphisms(SNPs)previously reported to be significantly associated with facial features and facial representations in the Han Chinese population.Methods After acquiring facial 3D images,3D morphable face models and HR-net network were used to align and quantify the 3D images,obtaining high-density 3D facial point cloud data.After unsupervised clustering of the point cloud,principal component analysis was applied to reduce dimensionality and extract multidimensional morphological phenotypes for each facial region.Based on these multidimensional phenotypes,partial least squares regression(PLSR)and canonical correlation analysis(CCA)were used for genetic association analysis.Results A total of 10 SNPs were validated to be significantly associated with facial morphology in Han Chinese,of which 7 SNPs were validated by the PLSR method,2 SNPs were validated by the CCA method,and 1 SNP was validated by both methods.Conclusion Among the 10 significantly associated SNP sites,9 related facial morphological regions were consistent with previous reports in other populations,indicating that genes affecting complex facial morphology have cross-population effects.

The clinical data of a pediatric patient with Kleefstra syndrome 2 (KLEFS2) diagnosed at the Department of Gastroenterology and Nutrition, Changzhou Children′s Hospital Affiliated to Nantong University in May 2024 were retrospectively analyzed.The patient was a 2-year-and-6-month-old male who had delayed language-motor development, feeding difficulties, left cryptorchidism, and atrial septal defect.He could not say " papa/mama" at the age of 2 years and 6 months, with poor response to his name, and mainly consumed semi-liquid and liquid foods.Physical examination showed his weight was 11 kg (-1.64 SD) and his height was 82 cm (-2.94 SD).He had thick eyebrows, low nasal bridge, abundant hair on the back and the simian line on the palms of both hands.Whole exome sequencing revealed that the patient had a heterozygous variant in the histone-lysine N-methyltransferase 2C ( KMT2C) gene [c.5742(exon36)_5743(exon36)dup/p.(S1915Ffs*25)(NM_170606)].It could be the pathogenic variation according to the American College of Medical Genetics and Genomics variant interpretation guidelines.Based on the patient′s clinical characteristics and molecular genetic testing results, KLEFS2 was diagnosed.Sanger sequencing showed that the patient′s father has a wild-type KMT2C gene, and his mother carries this mutation in the KMT2C gene, but she only exhibits delayed physical development and short stature.KLEFS2 is a rare autosomal dominant genetic disease, and there is heterogeneity in its genetic variation and clinical phenotype.A total of 19 cases of KLEFS2 have been reported globally.This article reports new clinical manifestations of KLEFS2, including simian line and excessive hair growth.c.5742(exon36)_5743(exon36)dup is a newly found KMT2C mutation that enriches the KMT2C variation spectrum and expands the phenotypic spectrum of KLEFS2.

The clinical data of a pediatric patient with Kleefstra syndrome 2 (KLEFS2) diagnosed at the Department of Gastroenterology and Nutrition, Changzhou Children′s Hospital Affiliated to Nantong University in May 2024 were retrospectively analyzed.The patient was a 2-year-and-6-month-old male who had delayed language-motor development, feeding difficulties, left cryptorchidism, and atrial septal defect.He could not say " papa/mama" at the age of 2 years and 6 months, with poor response to his name, and mainly consumed semi-liquid and liquid foods.Physical examination showed his weight was 11 kg (-1.64 SD) and his height was 82 cm (-2.94 SD).He had thick eyebrows, low nasal bridge, abundant hair on the back and the simian line on the palms of both hands.Whole exome sequencing revealed that the patient had a heterozygous variant in the histone-lysine N-methyltransferase 2C ( KMT2C) gene [c.5742(exon36)_5743(exon36)dup/p.(S1915Ffs*25)(NM_170606)].It could be the pathogenic variation according to the American College of Medical Genetics and Genomics variant interpretation guidelines.Based on the patient′s clinical characteristics and molecular genetic testing results, KLEFS2 was diagnosed.Sanger sequencing showed that the patient′s father has a wild-type KMT2C gene, and his mother carries this mutation in the KMT2C gene, but she only exhibits delayed physical development and short stature.KLEFS2 is a rare autosomal dominant genetic disease, and there is heterogeneity in its genetic variation and clinical phenotype.A total of 19 cases of KLEFS2 have been reported globally.This article reports new clinical manifestations of KLEFS2, including simian line and excessive hair growth.c.5742(exon36)_5743(exon36)dup is a newly found KMT2C mutation that enriches the KMT2C variation spectrum and expands the phenotypic spectrum of KLEFS2.

Objective To study the relationship of serum 25-hydroxyvitamin D3[25-(OH)D3],myostatin(MSTN),limb skeletal muscle index(ASMI)with osteopenia(OP)in patients with rheumatoid arthritis(RA)complicated with sarcopenia(SA).Methods A total of 244 RA patients selected as case group,and 123 healthy people who underwent physical examination in our hospital during the same period were selected as control group.The general data,serum levels of 25-(OH)D3,MSTN,ASMI and peripheral blood immune cells were compared among the two groups.The diagnostic value of serum 25-(OH)D3,MSTN and ASMI in RA patients with SA complicated with OP and the correlation between serum 25-(OH)D3,MSTN,ASMI and peripheral blood immune cells were analyzed.Results The levels of serum 25-(OH)D3,peripheral blood regulatory T lymphocyte(Treg)cells and ASMI in the case group were lower than those in the control group,while the levels of serum MSTN,peripheral blood helper T lymphocyte 17(Th17)cells and Th17/Treg were higher than those in the control group(P＜0.05).Among the 244 RA patients,171 had no SA,73 had SA,and the incidence of SA was 29.92％.The levels of serum 25-(OH)D3,peripheral blood Treg cells and ASMI in the SA group were lower than those in the non-SA group,and the levels of serum MSTN,peripheral blood Th17 cells and Th17/Treg were higher than those in the non-SA group(P＜0.05).The levels of serum 25-(OH)D3,peripheral blood Treg cells and ASMI in the OP group were lower than those in the non-OP group,while the levels of serum MSTN,peripheral blood Th17 cells and Th17/Treg were higher than those in the non-OP group(P＜0.05).The area under the curve(AUC)of combined detection of serum 25-(OH)D3,MSTN and ASMI for the diagnosis of OP in RA patients with SA was higher than that of the three alone(P＜0.05).Serum 25-(OH)D3 and ASMI in RA patients with SA complicated with or without OP were negatively correlated with peripheral blood Th17 cell level and Th17/Treg(P＜0.05),and positively correlated with peripheral blood Treg cell level(P＜0.05).The level of serum MSTN was positively correlated with the level of Th17 cells and Th17/Treg in peripheral blood(P＜0.05),and negatively correlated with the level of Treg cells in peripheral blood(P＜0.05).Conclusion The incidence of OP in RA patients with SA is high.At the same time,the occurrence of SA and OP can lead to the decrease of serum 25-(OH)D3,peripheral blood Th17 cell,Th17/Treg and ASMI,and the increase of serum MSTN and peripheral blood Treg cell.The combination detection of 25-(OH)D3,MSTN and ASMI can effectively improve the diagnosis of OP in RA patients with SA,and the levels of the three are significantly correlated with peripheral blood Th17 cells,Treg cells and Th17/Treg.

Chlorobenzene contaminants (CBs) pose a threat to the eco-environment, and functional strains hold considerable potential for the remediation of CB-contaminated sites. To deeply explore the application potential of functional bacteria in the in-situ bioremediation of CBs, this study focused on the biodegradation characteristics and degradation kinetics of CB and 1, 2-dichlorobenzene (1, 2-DCB) in soil by the isolated strain Serratia marcescens TF-1. Additionally, an in-situ remediation trial was conducted with this strain at a chemical industrial site. Batch serum bottle experiments showed that the degradation rate of CB at the concentrations ranging from 20 to 200 mg/L by TF-1 was 0.22-0.66 mol/(g_cell·h), following the Haldane model, with the optimal concentration at 23.12 mg/L. The results from simulated soil degradation experiments indicated that the combined use of TF-1 and sodium succinate (SS) significantly enhanced the degradation of CBs, with the maximum degradation rate of CB reaching 0.104 d^-1 and a half-life of 6.66 d. For 1, 2-DCB, the maximum degradation rate constant was 0.068 7 d^-1, with a half-life of 10.087 d. The in-situ remediation results at the chemically contaminated site demonstrated that the introduction of bacterial inoculant and SS significantly improved the removal of CBs, achieving the removal rates of 84.2%-100% after 10 d. CB, 1, 4-dichlorobenzene (1, 4-DCB), and benzo[a]pyrene were completely removed. Microbial diversity analysis revealed that the in-situ remediation facilitated the colonization of TF-1 and the enrichment of indigenous nitrogen-fixing Azoarcus, which may have played a key role in the degradation process. This study provides a theoretical basis and practical experience for the in situ bioremediation of CBs-contaminated sites.
Chlorobenzenes/isolation & purification* ; Biodegradation, Environmental ; Soil Pollutants/isolation & purification* ; Serratia marcescens/metabolism* ; Industrial Waste ; Soil Microbiology

Objective:To identify the main components of Huanglian Jiedu Decoction(HLJDD)using ultra-high-performance liquid chromatography-quadrupole-time of flight-mass spectrometry(UPLC-Q-TOF-MS),and to explore the potential mechanism of action of HLJDD in the treatment of gouty arthritis(GA)using network pharmacology and molecular docking methods.Methods:We identi-fied the chemical components of HLJDD by combining UPLC-Q-TOF-MS data acquired in both positive and negative ion modes with reference standards,relevant literature,and database searches.We analyzed the potential therapeutic mechanism of HLJDD for GA by using network pharmacology to determine the intersection targets between the active ingredients of HLJDD and GA for further enrich-ment analysis and visual network mapping.The binding affinity of the active ingredients with the intersection targets was validated through molecular docking.Results:A total of 47 components were identified by UPLC-Q-TOF-MS;54 key components of HLJDD for GA treatment and 37 intersection targets were determined by net-work pharmacology;and the top 10 key targets by Degree value were obtained by protein-protein interaction analysis.The Gene On-tology functional enrichment analysis revealed 20 biological pro-cesses,7 cellular components,and 8 molecular functions.The Kyoto Encyclopedia of Genes and Genomes pathway enrichment analysis demonstrated 96 GA-related intervention pathways,in which inflammatory signaling pathways such as interleukin-17(IL-17)and tu-mor necrosis factor(TNF)were involved.Molecular docking verified that the key components of HLJDD had high binding affinity with the core targets.Conclusion:The identified key components in HLJDD,such as phellodendrine,coptisine,wogonin,and β-sitosterol,may alleviate GA by regulating multiple core targets in the IL-17 and TNF pathways,such as PTSG2,which provides a theoretical ba-sis for future investigation into the mechanism of action of HLJDD.

Objective:To investigate the prevalence of cardiometabolic multimorbidity (CMM) in Chinese middle-aged and elderly population, and the associated factors of cognitive function in CMM patients.Methods:It was a cross-sectional study. Data of demographic characteristics, lifestyle, chronic disease, and cognitive function in middle-aged and elderly subjects were obtained from the Harmonized CHARLS D version 2015 database, subjects with emotional and psychiatric disorders and memory-related disorders, and those with missing chronic disease data were excluded. The factors associated with cognitive function in CMM patients were analyzed with generalized linear regression model.Results:A total of 15 007 respondents aged (61.07±9.70) years were included in the analysis, 7 338 (48.9%) of whom were males. There were 3 303 cases of CMM with a prevalence rate of 22.01%, and the proportion of females was 54.9% (1 814/3 033), and the proportion of males was 45.1% (1 489/3 033). Generalized linear regression analysis showed that age, educational level, place of residence, depressive symptoms were correlated with cognitive function scores of CMM patients (all P<0.05). Conclusion:The prevalence rate of CMM in middle-aged and elderly people in China is higher, and age, education level, place of residence, depressive symptoms are associated with cognitive function in CMM patients.