Objective To explore the clinical characteristics of patients with diffuse large B-cell lymphoma (DLBCL) accompanied with KMT2D gene mutation and the impact of its co-mutated genes on prognosis. Methods Clinical data of 155 newly diagnosed DLBCL patients were obtained. The second-generation sequencing method was used to detect 475 hotspot genes, including KMT2D mutation. Patients were divided into the KMT2D mutation group and KMT2D wild-type group based on the presence or absence of KMT2D gene mutation. Clinical characteristics, differences in co-mutated genes, and survival differences between the two groups were compared. Results The frequency of KMT2D mutation was 31%, which is predominantly observed in elderly patients (P=0.07) and less in the double-expressor phenotype (P=0.07). Compared with the KMT2D wild-type group, KMT2D gene mutation was associated with higher co-mutation rates of CDKN2A (OR=2.82, P=0.01) and BCL2 (OR=3.84, P=0.016), while being mutually exclusive with MYC gene mutation (OR=0.11, P=0.013). In univariate survival analysis, no statistically significant difference in overall survival (OS) was found between the KMT2D mutation group and the wild-type group (P=0.54). Further analysis of the prognostic significance of KMT2D with other gene mutations indicated that patients with KMT2D^mutBTG2^mut had poorer OS than those with KMT2D^wt BTG2^mut (P=0.07) and KMT2D^wt BTG2^wt (P=0.05). On the contrary, patients with KMT2D^mut CD79B^mut had better OS than those with KMT2D^mut CD79B^wt (P=0.09), with no prognostic impact observed for other co-mutated genes. Multivariate Cox regression analysis revealed that Ann Arbor stages Ⅲ and Ⅳ (HR=2.751, 95%CI: 1.169-6.472, P=0.02), elevated LDH levels (HR=2.461, 95%CI: 1.396-4.337, P=0.002), Ki-67 index>80% (HR=1.875, 95%CI: 1.066-3.299, P=0.029), and KMT2D^mutBTG2^mut(HR=4.566, 95%CI: 1.348-15.471, P=0.015) were independent risk factors for OS in patients with DLBCL (P<0.05). Conclusion DLBCL patients with KMT2D mutation often have multiple gene mutations, among which patients with a co-mutated BTG2 gene have poor prognosis.

In April 2025， the European Association for the Study of the Liver （EASL） released an updated edition of clinical practice guidelines on Wilson’s disease， and compared with the 2012 edition， the updated guidelines perform detailed elaboration and updates on clinical manifestations， diagnostic algorithms， treatment strategies， and monitoring protocols， emphasize the role of serum exchangeable copper in the diagnosis and monitoring of Wilson’s disease， and provide the reference ranges for clinical application. The updated guidelines also recommend and summarize the drugs for symptomatic treatment of neuropsychiatric symptoms， add a dedicated section on transitioning pediatric patients to adult care， and discuss the optimal timing， multidisciplinary team composition， and implementation frameworks of the transition plan. These updates fully reflect the latest evidence and the development of clinical needs in the diagnosis and treatment of Wilson’s disease. This article gives an excerpt of the recommendations in the guidelines.

Objective:To evaluate the feasibility of using cortical bone trajectory (CBT) screws in the osteoporotic thoracolumbar fixation by comparing the bone CT values at the bone-screw interface between traditional trajectory (TT) screws and CBT screws in patients with different bone densities.Methods:The high-resolution CT imaging data of thoracolumbar segments following thoracic or lumbar spine fractures from April 2020 to October 2022 were collected at The Second Hospital Affiliated to Wenzhou Medical University for retrospective analysis. They were divided into 3 groups: a normal bone mass group, an osteopenia group and an osteoporosis group. From each group 30 cases were chosen (90 cases in total, 36 males and 54 females). All the data were imported into Mimics 18.0 for three-dimensional bone reconstruction in which placement of TT and CBT screws was simulated on the vertebrae from T10 to L2 (non-fractured vertebrae). Regions of interest (ROI) where each simulated screw intersected the bone were segmented to measure their CT bone values. For each vertebra in each group, the relative difference percentage in average CT value of ROI between TT and CBT screws was calculated. The CT values of ROI were compared in the same group between TT and CBT screws from T10 to L2; the CT values of ROI were compared in the same screws among the 3 groups from T10 to L2; the CT values of ROI were compared between the CBT screws in the osteopenia and osteoporosis groups and the TT screws in the normal bone mass group; the relative difference percentages in average CT value of ROI between CBT and TT screws were compared between the 3 groups from T10 to L2.Results:The average CT value of ROI for CBT screws was significantly higher than that for TT screws from T10 to L2 in every group ( P< 0.001); as for the CT values of ROI for CBT and TT screws from T10 to L2, the osteoporosis group0.05). At T10, T12, and L1, the relative difference percentage in average CT value of ROI between CBT and TT screws was significantly higher in the osteopenia and osteoporosis groups than that in the normal bone mass group ( P<0.05), but there was no such a difference between the osteopenia and the osteoporosis groups ( P>0.05). At T11 and L2, there was no significant difference between the 3 groups in the relative difference percentage in average CT value of ROI between CBT and TT screws ( P>0.05). Conclusions:As bone mass decreases, both CBT and TT screws lead to a significant decrease in the bone density at the bone-screw interface. In patients with osteoporosis, CBT screws can still lead to a higher bone density at the bone-screw interface than TT screws, thus providing a higher strength at the bone-screw interface.

Objective:To analyze the composition differences of intestinal microbiota in patients with colon cancer and rectal cancer.Methods:The fecal samples of 72 patients in the Second Affiliated Hospital of Harbin Medical University from July 2018 to January 2019 were collected, and they were divided into colon cancer group and rectal cancer group, 36 cases in each group. DNA from fecal samples was extracted, and then high-throughput sequencing was performed on DNA. Bioinformatics was used to analyze the diversity and composition differences of intestinal microbiota between the two groups, and the potential cancer-promoting mechanisms of the differential flora were also discussed.Results:From high-throughput sequencing, 2 356 560 original sequences and 32 730 high-quality sequences were obtained from 72 samples. The average length of the sample sequence was mainly in the interval of 401-460 bp. And 1 409 operational taxonomic units (OTU) were acquired after OTU species taxonomy annotation of all the sequences. Alpha diversity analysis showed that Shannon index of the rectal cancer group and the colon cancer group was 2.61±0.56 and 2.43±0.67, respectively, and the difference was statistically significant ( t = 1.229, P = 0.223); Simpson index of the rectal cancer group and the colon cancer group was 0.17±0.09 and 0.21±0.16, respectively, and the difference was statistically significant ( t = 1.449, P = 0.151). Differences analysis of both groups and linear discriminant analysis (LDA) showed at the phylum level, Firmicutes were more abundant in the intestine of patients with rectal cancer (LDA = 4.67, P = 0.014), while Proteobacteria were more abundant in the gut of colon cancer patients (LDA = 4.49, P = 0.042). From the perspective of class level, the abundance of Gammaproteobacteria was higher in the intestine of patients with colon cancer (LDA = 4.50, P = 0.033), while the abundance of Erysipelotrichia was higher in the intestine of patients with rectal cancer (LDA = 3.50, P = 0.035). At the order level, the abundance of Erysipelotrichales was higher in the intestine of patients with rectal cancer (LDA = 3.50, P = 0.035); at the family level, the abundance of Porphyromonadaceae was higher in the intestine of patients with rectal cancer (LDA = 3.97, P = 0.033). Conclusion:The compositions of intestinal microbiota in patients with colon cancer and rectal cancer are significantly different, indicating that the different floras may contribute to the progression of colon cancer and rectal cancer.

BACKGROUND: Chromosomal abnormalities are important causes of ventriculomegaly (VM). In mild and isolated cases of fetal VM, obstetricians rarely give clear indications for pregnancy termination. We aimed to calculate the incidence of chromosomal abnormalities and incremental yield of chromosomal microarray analysis (CMA) in VM, providing more information on genetic counseling and prognostic evaluation for fetuses with VM. METHODS: The Chinese language databases Wanfang Data, China National Knowledge Infrastructure, and China Biomedical Literature Database (from January 1, 1991 to April 29, 2020) and English language databases PubMed, Embase, and Cochrane Library (from January 1, 1945 to April 29, 2020) were systematically searched for articles on fetal VM. Diagnostic criteria were based on ultrasonographic or magnetic resonance imaging (MRI) assessment of lateral ventricular atrium width: ≥10 to <15 mm for mild VM, and ≥15 mm for severe VM. Isolated VM was defined by the absence of structural abnormalities other than VM detected by ultrasonography or MRI. R software was used for the meta-analysis to determine the incidence of chromosomal abnormalities and incremental yield of CMA in VM, and the combined rate and 95% confidence interval (CI) were calculated. RESULTS: Twenty-three articles involving 1635 patients were included. The incidence of chromosomal abnormalities in VM was 9% (95% CI: 5%-12%) and incremental yield of CMA in VM was 11% (95% CI: 7%-16%). The incidences of chromosomal abnormalities in mild, severe, isolated, and non-isolated VM were 9% (95% CI: 4%-16%), 5% (95% CI: 1%-11%), 3% (95% CI: 1%-6%), and 13% (95% CI: 4%-25%), respectively. CONCLUSIONS Applying CMA in VM improved the detection rate of abnormalities. When VM is confirmed by ultrasound or MRI, obstetricians should recommend fetal karyotype analysis to exclude chromosomal abnormalities. Moreover, CMA should be recommended preferentially in pregnant women with fetal VM who are undergoing invasive prenatal diagnosis. CMA cannot completely replace chromosome karyotype analysis.
Chromosome Aberrations ; Chromosomes ; Female ; Fetus ; Humans ; Hydrocephalus ; Karyotyping ; Microarray Analysis ; Pregnancy ; Prenatal Diagnosis ; Retrospective Studies ; Ultrasonography, Prenatal

Objective To examine the association of pre-pregnancy obesity, excessive gestational weight gain (GWG) and gestational diabetes mellitus (GDM) with the risk of large for gestational age (LGA), and assess the dynamic changes in population attributable risk percent (PAR%) for having these exposures. Methods A retrospective cohort study was conducted to collect data on pregnant women who received regular health care and delivered in Beijing Obstetrics and Gynecology Hospital from January to December in 2011, 2014 and 2017, respectively. Information including baseline characteristics, metabolic indicators during pregnancy, pregnancy complications, and pregnancy outcomes were collected. Multivariate logistic regression model was constructed to assess their association with LGA delivery. Adjusted relative risk and prevalence of these factors were used to calculate PAR%and evaluate the comprehensive risk. Results (1) The number of participants were 11 132, 13 167 and 4 973 in 2011, 2014 and 2017, respectively. Corresponding prevalence of LGA were 15.19% (1 691/11 132), 14.98% (1 973/13 167) and 16.21% (806/4 973). No significant change in the prevalence of LGA was observed across all years investigated (all P>0.05). (2) According to results from multivariate logistic regression model, advanced maternal age, multiparity, pre-pregnancy overweight or obesity, GWG, GDM and serum triglyceride level≥1.7 mmol/L in the first trimester were associated with high risk of LGA (all P<0.05). Among these factors, pre-pregnancy overweight or obesity, excessive GWG and multiparity were common risk factors of LGA. GDM was not associated with risk of LGA in 2017 database. (3) Dynamic change of PAR% in these years were notable. PAR% of GWG for LGA decreased (32.6%, 27.2% and 22.2% in 2011, 2014 and 2017, respectively), while PAR% of pre-pregnancy overweight or obesity showed an upward trend (4.2%, 3.3% and 8.4%). In addition, PAR% of multiparity increased as well (3.5%, 6.3% and 15.9%). (4) Further analysis showed that excessive GWG in the first and second trimesters contributed the most (20.2% and 19.0% in 2014 and 2017). Conclusions Excessive GWG, pre-pregnancy overweight or obesity and multiparity are the important risk factors what contribute to LGA. PAR% of excessive GWG for LGA decrease in recent years. However, GWG in the first and second trimesters is a critical factor of LGA. Appropriate weight management in pre-pregnancy, the first or second trimester is the key point to reduce the risk of LGA.

Objective To analyze the pregnancy outcomes of fetal tetralogy of Fallot and to explore its prenatal diagnosis and treatment procedures. Methods The clinical data of 63 cases of fetal tetralogy of Fallot (62 cases were singleton and 1 case was one of twin) were collected retrospectively from November, 2013 to November, 2017 in Beijing Obstetrics and Gynecology Hospital. Results (1) Totally, 63 cases out of 46 352 pregnancies were diagnosed fetal tetralogy of Fallot by fetal ultrasonic cardiogram with about 0.136%(63/46 352) occurrence rate, and the mean gestational age was (23±3) weeks. And 50 cases (79%, 50/63) terminated pregnancy by induced labour. (2) Totally, 57 cases (90%,57/63) accepted genetic diagnosis.Eight cases (13%, 8/63) existed chromosome abnormality including 21-trimosy in 6 cases, 18-trisomy in 1 case and 22q11.2 microdeletion syndrome in 1 case; and these 8 cases were determined before 28 gestational weeks. (3) And 13 cases (21%, 13/63) of no fetal genetic abnormality selected to continue pregnancy. Twelve cases underwent full term delivery (5 cases were cesarean section delivery and 7 cases were vaginal delivery). Twelve newborns underwent surgical radical operation on heart malformation and got recovery. One case underwent preterm cesarean section at 35 gestational weeks for one of twin, and the newborn with tetralogy of Fallot was dead. The other the newborns survived and were followed up for tetralogy of Fallot surgery from 1 month to 3 years old after birth and recovered.Conclusions Fetal tetralogy of Fallot mainly is diagnosed by ultrasonic cardiogram in the second trimester. The gestational age of diagnosis may be as early as 15 gestational weeks. Fetal tetralogy of Fallot with no genetic abnormality could underwent radical heart malformation operation after birth. It is necessary to undergo genetic testing on fetal tetralogy of Fallot and prenatal multidisciplinary counseling as well.

Objective: To analyze the pregnancy outcomes of fetal tetralogy of Fallot and to explore its prenatal diagnosis and treatment procedures. Methods: The clinical data of 63 cases of fetal tetralogy of Fallot (62 cases were singleton and 1 case was one of twin) were collected retrospectively from November, 2013 to November, 2017 in Beijing Obstetrics and Gynecology Hospital. Results: (1) Totally, 63 cases out of 46 352 pregnancies were diagnosed fetal tetralogy of Fallot by fetal ultrasonic cardiogram with about 0.136%(63/46 352) occurrence rate, and the mean gestational age was (23±3) weeks. And 50 cases (79%, 50/63) terminated pregnancy by induced labour. (2) Totally, 57 cases (90%,57/63) accepted genetic diagnosis.Eight cases (13%, 8/63) existed chromosome abnormality including 21-trimosy in 6 cases, 18-trisomy in 1 case and 22q11.2 microdeletion syndrome in 1 case; and these 8 cases were determined before 28 gestational weeks. (3) And 13 cases (21%, 13/63) of no fetal genetic abnormality selected to continue pregnancy. Twelve cases underwent full term delivery (5 cases were cesarean section delivery and 7 cases were vaginal delivery). Twelve newborns underwent surgical radical operation on heart malformation and got recovery. One case underwent preterm cesarean section at 35 gestational weeks for one of twin, and the newborn with tetralogy of Fallot was dead. The other the newborns survived and were followed up for tetralogy of Fallot surgery from 1 month to 3 years old after birth and recovered. Conclusions Fetal tetralogy of Fallot mainly is diagnosed by ultrasonic cardiogram in the second trimester. The gestational age of diagnosis may be as early as 15 gestational weeks. Fetal tetralogy of Fallot with no genetic abnormality could underwent radical heart malformation operation after birth. It is necessary to undergo genetic testing on fetal tetralogy of Fallot and prenatal multidisciplinary counseling as well.

Objective: To examine the association of pre-pregnancy obesity, excessive gestational weight gain (GWG) and gestational diabetes mellitus (GDM) with the risk of large for gestational age (LGA), and assess the dynamic changes in population attributable risk percent (PAR%) for having these exposures. Methods: A retrospective cohort study was conducted to collect data on pregnant women who received regular health care and delivered in Beijing Obstetrics and Gynecology Hospital from January to December in 2011, 2014 and 2017, respectively. Information including baseline characteristics, metabolic indicators during pregnancy, pregnancy complications, and pregnancy outcomes were collected. Multivariate logistic regression model was constructed to assess their association with LGA delivery. Adjusted relative risk and prevalence of these factors were used to calculate PAR%and evaluate the comprehensive risk. Results: (1)The number of participants were 11 132, 13 167 and 4 973 in 2011, 2014 and 2017, respectively. Corresponding prevalence of LGA were 15.19% (1 691/11 132), 14.98% (1 973/13 167) and 16.21% (806/4 973). No significant change in the prevalence of LGA was observed across all years investigated (all P>0.05). (2)According to results from multivariate logistic regression model, advanced maternal age, multiparity, pre-pregnancy overweight or obesity, GWG,GDM and serum triglyceride level≥1.7 mmol/L in the first trimester were associated with high risk of LGA (all P<0.05). Among these factors, pre-pregnancy overweight or obesity, excessive GWG and multiparity were common risk factors of LGA. GDM was not associated with risk of LGA in 2017 database. (3) Dynamic change of PAR% in these years were notable. PAR% of GWG for LGA decreased (32.6%, 27.2% and 22.2% in 2011, 2014 and 2017, respectively), while PAR% of pre-pregnancy overweight or obesity showed an upward trend (4.2%, 3.3% and 8.4%). In addition, PAR% of multiparity increased as well (3.5%, 6.3% and 15.9%). (4) Further analysis showed that excessive GWG in the first and second trimesters contributed the most (20.2% and 19.0% in 2014 and 2017). Conclusions Excessive GWG, pre-pregnancy overweight or obesity and multiparity are the important risk factors what contribute to LGA. PAR% of excessive GWG for LGA decrease in recent years. However, GWG in the first and second trimesters is a critical factor of LGA. Appropriate weight management in pre-pregnancy, the first or second trimester is the key point to reduce the risk of LGA.