Fragile X syndrome(FXS)is caused by abnormal duplication and amplification of the FMR1 gene CGG.This article reports a pair of brothers diagnosed with FXS by genetic testing.Two patients,aged 15 and 14 years old respectively,both had clinical manifestations such as language disorders,intellectual disabilities,attention deficit disorder,autism spectrum disorder,and FXS's characteristic facial features.The proband had a rare late-onset epileptic seizure,which was well treated with levetiracetam,while his younger brother had no electroencephalogram abnormalities after repeated follow-up.This pair of cases suggests that the clinical phenotype of FXS has diversity and heterogeneity.

Objective To investigate the relationship between the combined detection of lipoprotein-associated phospholipase A2(Lp-PLA2),protease activated receptor 2(PAR-2),and advanced oxidation protein products(AOPP)and the occurrence of in-stent restenosis after percutaneous coronary intervention(PCI),as well as its predictive value.Methods Patients with coronary heart disease after PCI were selected as the study objects.Group Ⅰ was the group without in-stent restenosis and group Ⅱ was the group with in-stent restenosis.The expressions of Lp-PLA2,PAR-2 and AOPP were detected by enzyme-linked immunosorbent assay(ELISA),and the predictive value and independent risk factors of these gene expression changes and the risk of in-stent restenosis were analyzed by receiver operating characteristic(ROC)analysis and binary logistic regression analysis.Results The blood Lp-PLA2 levels in group Ⅰ and group Ⅱ after 1 year follow-up after stenting were(190.24±33.67)and(256.14±37.68)ng·mL-1;PAR-2 levels were(1.41±0.38)and(1.95±0.43)ng·L-1,respectively;the AOPP levels were(47.25±4.62)and(58.76±4.86)μmol·L-1,respectively,and the differences were statistically significant(all P＜0.001).ROC analysis results showed that the truncation values of Lp-PLA2,PAR-2 and AOPP were 201.32 ng·mL-1,1.50 ng·mL-1 and 49.37 μmol·L-1,respectively.The area under the curve(AUC)was significantly higher than that detected alone(all P＜0.001).Binary logistic regression analysis shows that the independent risk factors for in-stent restenstenosis after PCI were Lp-PLA2 ≥ 201.32 ng·mL-1,PAR-2≥1.50 ng·L-1,AOPP ≥49.37 μmol·L-1 and LDL-C≥3.03 mmol·L-1,respectively(all P＜0.05).Conclusion The occurrence of in-stent restenosis after PCI is closely related to the increase in Lp-PLA2,PAR-2 and AOPP expression.

Objective:To investigate the value of dual-detector spectral CTA in distinguishing infarct core from penumbra in patients with acute ischemic stroke(AIS), and to further explore the risk factors associated with infarct core and their predictive value.Methods:The imaging and clinical data of 163 patients with AIS who met the inclusion criteria admitted to the Second Affiliated Hospital of Soochow University from March 2022 to May 2023 were retrospectively analyzed. Patients from March 2022 to December 2022 were used as the training group, and patients from January 2023 to May 2023 were used as the validation group for internal validation. The head and neck spectral CTA and brain CT perfusion imaging with dual-layer detector spectral CT were all carried out on all patients. Using CTP as reference, the patients were divided into infarct core group and non-infarct core group according to whether an infarct core occurred in the hypoperfusion regions of brain tissue. Multivariate logistic regression analysis was used to screen predictors related to the infarct core. The receiver operating characteristic (ROC) curve was used to evaluate the predictive efficacy.Results:A total of 163 patients were included in the study, including 112 in the training group and 51 in the validation group. There were significant differences in iodine density, effective atomic number, hypertension, triglyceride and neutrophils between the two groups ( P< 0.05). The cutoff values for iodine density values and effective atomic number values were 0.215 mg/mL and 7.405, respectively. Multivariate logistic regression analysis showed that iodine density and hypertension were independent risk factors for infarct core in AIS, and triglyceride was an independent protective factor. The area under the ROC curve (AUC) of iodine density value was the largest (0.859), with a sensitivity of 70.27%, and a specificity of 90.67%, which had a good predictive value. The ROC curve analysis results for the validation group were consistent with the training group. Conclusions:Spectral CT parameters iodine density values and effective atomic number values have the potential to distinguish the infarct core area from the penumbra area in patients with AIS. Iodine density and hypertension were independent risk factors of infarct core in AIS, triglyceride was an independent protective factor, and iodine density values obtained by dual-layer spectral detector CT had a high predictive value.

Fungal mycetoma is a chronic granulomatous lesion that persists in the skin and subcutaneous tissue for a long time.It is commonly caused by fungal infection in field workers who are pricked to the subcutaneous tissue by thorns from soil,plants,or bramble.Fungal mycetoma cases is rare in China.This article reports two cases of fun-gal mycetoma caused by Madurella grisea and Aspergillus flavus infection,which improve after surgical debride-ment and antifungal drug treatment.This study aims to improve clinicians'understanding on fungal mycetoma and achieve early diagnosis and treatment.

Objective To analyze the hip joint biomechanies of the acetabular anatomical reconstruction and nonanatomi-cal reconstruction in total hip arthroplasty(THA)for Crowe type Ⅲ developmental dysplasia of the hip(DDH)by finite ele-ment method,which provided theoretical foundation and experimental basis for the anatomical acetabular reconstruction dur-ing THA in clinical practice.Methods One patient with left end-stage hip arthritis secondary to Crowe type Ⅲ DDH was se-lected in this study,who underwent total hip arthroplasty in the orthopedic department of the First Affiliated Hospital of Bengbu Medical College in April 2020.This patient was female,57 years old.The preoperative and postoperative three dimentional CT scan of the patient's pelvis were performed.Fourteen acetabular cup models with different anteversion,inclination and rotation center height were established in Mimics and 3-Matic software.The boundary and load conditions were set in Abaqus software.The Von Mises and stress distribution of the hip joint were calculated and observed.Results In the Crowe type Ⅲ DDH THA,if the hip rotation center was restored anatomically and the acetabular cup's inclination was set as 40°,the cup's anteversion var-ied from 5° to 25°,the lowest Von Mises value of acetabular cup and polyethylene liner occured in 20°anteversioin;if the hip rotation center was restored anatomically and the acetabular cup's anteversion was set as 15°,the cup's inclination varied from 35° to 55°,the lowest Von Mises value of acetabular cup and polyethylene liner occured in 35° inclination;if the acetabular cup's anteversion and inclination were set as 15°and 40°respectively,the up migration of hip rotaion center varied from 0 mm to 20 mm,the lowest Von Mises value of acetabular cup and polyethylene liner occured in 10 mm up migration.In all fourteen models,the Von Mises value of the acetabulum,acetabulum cup and polyethylene liner were lowest when the acetabular cup's anteversion and inlcination were 15°,35° respectively,as well as the rotation center was restored anatomically.Conclusion In total hip arthroplasty for Crowe type Ⅲ DDH,the anatomical restoration of hip rotation center with 15° anteversion and 35° in-clination of the acetabular cup are suggested,bone graft above the acetabular cup and additional screws are recommended si-multaneously to further reduce the Von Mises of hip joint.

Objective To investigate the mechanism by which Colony Stimulating Factor-1(CSF1)inhibits apoptosis in neurons subjected to oxygen-glucose deprivation(OGD).Methods Primary rat cortical neurons were divided into the OGD damaged neuron model group(OGD group),the rh-CSF1 intervention group(rh-CSF1 group),and control group.The sample size for each group was 3.After intervention with recombinant human CSF1(rh-CSF1),neuronal apoptosis rate and intracellular ATP content,reactive oxygen species levels,mitochondrial membrane potential,and mitochondrial DNA copy number were measured.The content of malondialdehyde within mitochondria and the activity of superoxide dismutase were also assessed.Results Intervention with rh-CSF1 increased mitochondrial membrane potential(0.55±0.03 vs.0.43±0.06,P<0.01),mitochondrial DNA copy number(0.88±0.05 vs.0.72±0.06,P<0.05),ATP content[(15.70±0.99)mmol/mg vs.(11.70±1.00)mmol/mg,P<0.01)],and superoxide dismutase[(18.47±1.38)U/mg vs.(14.78±1.81)U/mg,P<0.05)]activity in neurons injured by OGD.It also reduced levels of rectivereactive oxygen species(3.64±0.21 vs.4.45±0.33,P<0.05)and malondialdehyde within mitochondria[(2.13±0.19)mmol/mg vs.(2.78±0.20)mmol/mg,P<0.05)],and inhibited neuronal apoptosis(10.12±0.78 vs.17.04±1.23,P<0.01)Conclusion rh-CSF1 may alleviate the damage in neurons induced by OGD by improving mitochondrial function,reducing oxidative stress,and inhibiting cell apoptosis.

Cell Nucleus ; Cellular Senescence/genetics* ; CRISPR-Cas Systems/genetics*

Objective:To investigate the safety and short-term efficacy of laparoscopic pro-ximal gastrectomy (LPG) for proximal gastric cancer and adenocarcinoma of esophagogastric junction.Methods:The retrospective cohort study was conducted. The clinicopathological data of 385 patients with proximal gastric cancer and adenocarcinoma of esophagogastric junction who underwent LPG in the 15 medical centers, including the First Affiliated Hospital of Xiamen University et al, from January 2014 to March 2022 were collected. There were 304 males and 81 females, aged (63±9)years. Of the 385 patients, 335 cases undergoing LPG were divided into the laparoscopic group and 50 cases undergoing open proximal gastrectomy were divided into the open group. Observation indicators: (1) intraoperative and postoperative situations; (2) follow-up; (3) stratified analysis. Measurement data with normal distribution were represented as Mean± SD, and comparison between groups was conducted using the t test. Measurement data with skewed distribution were represented as M(range), and comparison between groups was conducted using the Wilcoxon rank sum test. Count data were described as absolute numbers, and comparison between groups was conducted using the chi-square test or Fisher exact probability. Repeated measurement data were analyzed using the repeated ANOVA. Results:(1) Intraoperative and postoperative situations. The operation time, cases with reconstruction of digestive tract as esophagogastric anastomosis and esophageal-jejunal anastomosis, cases with postoperative pathological staging as stage 0?Ⅰ and stage Ⅱ?Ⅲ, duration of postoperative hospital stay, cases with postoperative early complications were (212±96)minutes, 270, 65, 177, 107, 10(range, 8?14)days, 40 in patients of the laparoscopic group, with 51 cases missing the data of postoperative pathological staging. The above indicators were (174±90)minutes, 39, 11, 22, 28, 10(range, 8?18)days, 10 in patients of the open group. There were significant differences in the opera-tion time and postoperative pathological staging between the two groups ( t=2.62, χ2=5.93, P<0.05), and there was no significant difference in the reconstruction of digestive tract, duration of post-operative hospital stay, postoperative early complications between the two groups ( χ2=0.19, Z=0.40, χ2=2.50, P>0.05). (2) Follow-up. Of the 385 patients,202 cases were followed up during the post-operative 12 months, including 187 cases in the laparoscopic group and 15 cases in the open group. Cases with reflux esophagitis, cases with esophageal anastomotic stenosis were 48, 11 in patients of the laparoscopic group, versus 5, 2 in patients of the open group, showing no significant difference in the above indicators between the two groups ( P>0.05). The body mass index (BMI), hemoglobin (Hb), albumin (Alb) at postoperative 6 months and 12 months were (21±3)kg/m 2, (130±15)g/L, (40±4)g/L and (21±3)kg/m 2, (132±14)g/L, (41±4)g/L in patients of the laparoscopic group, versus (21±3)kg/m 2, (121±19)g/L, (37±5)g/L and (21±3)kg/m 2, (125±21)g/L, (43±6)g/L in patients of the open group. There were significant differences in postoperative Hb between the two groups ( Fgroup=5.88, Ftime=5.49, Finteraction=19.95, P<0.05) and there were significant differences in time effect of postopera-tive BMI and Alb between the two groups ( Ftime=9.53, 49.88, P<0.05). (3) Stratified analysis. ① Incidence of postoperative of reflux esophagitis and esophageal anastomotic stenosis in patients with different reconstruction of digestive tract. Of the 202 patients, cases with reconstruction of digestive tract as esophagogastric anastomosis and esophageal-jejunal anastomosis were 168 and 34, respectively. The incidence rates of postoperative of reflux esophagitis were 26.79%(45/168)and 23.53%(8/34)in cases with reconstruction of digestive tract as esophagogastric anastomosis and esophageal-jejunal anastomosis, showing no significant difference between them ( χ2=0.16, P>0.05). Cases undergoing esophageal anastomotic stenosis were 13 in patients with reconstruction of diges-tive tract as esophagogastric anastomosis. ② The BMI, Hb, Alb in patients with different reconstruc-tion of digestive tract. The BMI, Hb, Alb were (24±3)kg/m 2, (135±20)g/L, (41±5)g/L in the 168 patients with reconstruction of digestive tract as esophagogastric anastomosis before the operation, versus (23±3)kg/m 2, (130±19)g/L, (40±4)g/L in the 34 patients with reconstruction of digestive tract as esophageal-jejunal anastomosis before the operation, showing no significant difference between them ( t=1.44, 1.77, 1.33, P>0.05). The BMI, Hb, Alb at postoperative 6 months and 12 months were (21±3)kg/m 2, (128±16)g/L, (39±4)g/L and (21±3)kg/m 2, (131±16)g/L, (41±4)g/L in the 168 patients with reconstruction of digestive tract as esophagogastric anastomosis, versus (20±4)kg/m 2, (133±13)g/L, (43±3)g/L and (21±3)kg/m 2, (135±12)g/L, (44±3)g/L in the 34 patients with reconstruction of digestive tract as esophageal-jejunal anastomosis. There were significant differences in the group effect and time effect of postoperative Alb between patients with different reconstruction of diges-tive tract ( Fgroup=15.82, Ftime=5.43, P<0.05), and there was also a significant difference in the time effect of postoperative BMI between them ( Ftime=4.22 , P<0.05). Conclusion:LPG can be used to the treatment of proximal gastric cancer and adenocarcinoma of esophagogastric junction, with a good safety and short-term efficacy.

Aging poses a major risk factor for cardiovascular diseases, the leading cause of death in the aged population. However, the cell type-specific changes underlying cardiac aging are far from being clear. Here, we performed single-nucleus RNA-sequencing analysis of left ventricles from young and aged cynomolgus monkeys to define cell composition changes and transcriptomic alterations across different cell types associated with age. We found that aged cardiomyocytes underwent a dramatic loss in cell numbers and profound fluctuations in transcriptional profiles. Via transcription regulatory network analysis, we identified FOXP1, a core transcription factor in organ development, as a key downregulated factor in aged cardiomyocytes, concomitant with the dysregulation of FOXP1 target genes associated with heart function and cardiac diseases. Consistently, the deficiency of FOXP1 led to hypertrophic and senescent phenotypes in human embryonic stem cell-derived cardiomyocytes. Altogether, our findings depict the cellular and molecular landscape of ventricular aging at the single-cell resolution, and identify drivers for primate cardiac aging and potential targets for intervention against cardiac aging and associated diseases.
Aged ; Animals ; Humans ; Aging/genetics* ; Forkhead Transcription Factors/metabolism* ; Myocytes, Cardiac/metabolism* ; Primates/metabolism* ; Repressor Proteins/metabolism* ; Transcriptome ; Macaca fascicularis/metabolism*

OBJECTIVE: To investigate the changes in bacterial flora in fecal samples, at the tumor loci and in adjacent mucosa in patients with colorectal cancer (CRC). METHODS: We collected fecal samples from 13 patients with CRC and 20 healthy individuals and tumor and adjacent mucosa samples from 6 CRC patients. The differences in bacterial composition between the fecal and mucosa samples were analyzed with 16S rDNA sequencing and bioinformatics methods. We also detected the total number of bacteria in the feces using flow cytometry, isolated and identified the microorganisms in the fecal and mucosa samples using common bacterial culture media. We further tested the effects of 7 isolated bacterial strains on apoptosis of 3 CRC cell lines using lactate dehydrogenase detection kit. RESULTS: The bacterial α-diversity in the feces of healthy individuals and in adjacent mucosa of CRC patients was significantly higher than that in the feces and tumor mucosa in CRC patients (P < 0.05). Lactobacillaceae is a specific bacteria in the feces, while Escherichia, Enterococcus, and Fusobacterium are specific bacteria in tumor mucosa of CRC patients as compared with healthy individuals. Cell experiment with3 CRC cell lines showed that Bacteroides fragilis isolated from the tumor mucosa of CRC patients produced significant inhibitory effects on cell proliferation (P < 0.0001), while the isolated strain Fusobacterium nucleatum obviously promoted the proliferation of the cell lines (P < 0.001). CONCLUSION The bacterial flora in the feces, tumor mucosa and adjacent mucosa of CRC patients is significantly different from that in the feces of healthy individuals, and the fecal flora of CRC patients can not represent the specific flora of the tumor mucosa. Inhibition of F. nucleatum colonization in the tumor mucosa and promoting B. fragilis colonization may prove beneficial for CRC treatment.
Bacteria ; Colorectal Neoplasms/pathology* ; Feces/microbiology* ; Gastrointestinal Microbiome ; Humans ; Intestinal Mucosa