OBJECTIVE: To explore the clinical phenotypes and genetic characteristics of five children with Lamb-Shaffer syndrome (LAMSHF). METHODS: Five children with LAMSHF diagnosed at the Department of Pediatrics, the First Medical Center of Chinese PLA General Hospital from April 2021 to December 2024 were selected as study subjects. Clinical data of the children was collected. Genomic DNA was extracted from peripheral blood samples of the children and their parents. Whole exome sequencing (WES) was carried out to screen for variants. This study was approved by the Medical Ethics Committee of the Chinese PLA General Hospital (Ethics No.: S2025-411-01). RESULTS: All five children had presented with global developmental delay. Among them, two had manifestations of autism spectrum disorder, two had abnormal electroencephalogram findings, four had abnormal MRI results, and two had ocular abnormalities. WES has detected five novel variants in the SOX5 gene. Among these, c.1771G>C (p.Gly591Arg) was unreported previously. Sanger sequencing confirmed that none of the parents had carried the same variants, suggesting that they were all de novo variants. According to the guidelines from the American College of Medical Genetics and Genomics (ACMG), two nonsense variants and one missense variant were classified as pathogenic, whilst two missense variants were classified as likely pathogenic. CONCLUSION This study has clarified the correlation between the clinical phenotypes of five children with LAMSHF and variants of the SOX5 gene, which expanded the mutational spectrum of the SOX5 gene and provided a basis for the clinical diagnosis and genetic counseling.
Humans ; Male ; Female ; Phenotype ; Child, Preschool ; Child ; SOXD Transcription Factors/genetics* ; Exome Sequencing ; Mutation ; Infant

Objective To evaluate the clinical efficacy and safety of bumetanide in comparison with other diuretics for the prevention and management of postoperative pleural effusion in patients undergoing hepatobiliary surgery.Methods A total of 168 patients undergoing routine hepatobiliary surgery were randomly assigned to either the bumetanide group or the control group(other diuretics).Patients in the bumetanide group received bumetanide injection at a dose of 1 mg intravenously once daily.In contrast,the control group received one of the following treatments:furosemide injection at 20 mg intravenously once daily,furosemide tablets at 40 mg orally twice daily,or a combination of furosemide tablets(40 mg orally twice daily)and spironolactone tablets(60 mg orally twice daily).All treatments were administered for three days postoperatively.The incidence of postoperative pleural effusion,length of hospital stay,and drug-related adverse reactions were compared between the two groups.Additionally,multivariate logistic regression analysis was conducted to identify independent risk factors for moderate-to-severe pleural effusion after surgery.Results A total of 82 patients were enrolled in the bumetanide group and 86 in the control group.No significant differences were observed in the general demographic and clinical characteristics between the two groups(P>0.05),except for sex and ALT levels(P<0.05).The incidence of moderate-to-severe pleural effusion was higher in the control group than in the bumetanide group,with rates of 9.3％and 1.2％,respectively(all P<0.05).Additionally,the length of hospital stay was significantly longer in the control group(19.94±0.90 days)compared to the bumetanide group(17.15±1.06 days)(all P<0.05).Thora-centesis was performed in 2 cases in the bumetanide group and 8 cases in the control group,but this difference was not statistically significant(P>0.05).The primary adverse drug reactions in both groups included hypokalemia,hypochloremia,hyponatremia,and hypocalcemia.The overall incidence of adverse drug reactions was 35.4％in the bumetanide group and 34.9％in the control group,showing no significant difference(P>0.05).Multivariate regression analysis revealed that a history of hepatitis B,cirrhosis,and the use of bumetanide were independent predictors of moderate-to-severe pleural effusion during routine hepatobiliary surgery(all P<0.05).Conclusions Bumetanide demonstrates superior efficacy compared to other conventional diuretics in the prevention and manage-ment of postoperative pleural effusion in hepatobiliary surgery,suggesting potential clinical application value.

Objective To evaluate the clinical efficacy and safety of bumetanide in comparison with other diuretics for the prevention and management of postoperative pleural effusion in patients undergoing hepatobiliary surgery.Methods A total of 168 patients undergoing routine hepatobiliary surgery were randomly assigned to either the bumetanide group or the control group(other diuretics).Patients in the bumetanide group received bumetanide injection at a dose of 1 mg intravenously once daily.In contrast,the control group received one of the following treatments:furosemide injection at 20 mg intravenously once daily,furosemide tablets at 40 mg orally twice daily,or a combination of furosemide tablets(40 mg orally twice daily)and spironolactone tablets(60 mg orally twice daily).All treatments were administered for three days postoperatively.The incidence of postoperative pleural effusion,length of hospital stay,and drug-related adverse reactions were compared between the two groups.Additionally,multivariate logistic regression analysis was conducted to identify independent risk factors for moderate-to-severe pleural effusion after surgery.Results A total of 82 patients were enrolled in the bumetanide group and 86 in the control group.No significant differences were observed in the general demographic and clinical characteristics between the two groups(P>0.05),except for sex and ALT levels(P<0.05).The incidence of moderate-to-severe pleural effusion was higher in the control group than in the bumetanide group,with rates of 9.3％and 1.2％,respectively(all P<0.05).Additionally,the length of hospital stay was significantly longer in the control group(19.94±0.90 days)compared to the bumetanide group(17.15±1.06 days)(all P<0.05).Thora-centesis was performed in 2 cases in the bumetanide group and 8 cases in the control group,but this difference was not statistically significant(P>0.05).The primary adverse drug reactions in both groups included hypokalemia,hypochloremia,hyponatremia,and hypocalcemia.The overall incidence of adverse drug reactions was 35.4％in the bumetanide group and 34.9％in the control group,showing no significant difference(P>0.05).Multivariate regression analysis revealed that a history of hepatitis B,cirrhosis,and the use of bumetanide were independent predictors of moderate-to-severe pleural effusion during routine hepatobiliary surgery(all P<0.05).Conclusions Bumetanide demonstrates superior efficacy compared to other conventional diuretics in the prevention and manage-ment of postoperative pleural effusion in hepatobiliary surgery,suggesting potential clinical application value.

The deep integration of party building and business is one of the effective ways to promote and achieve high-quality development of public hospitals,and exploring innovative integration paths is an inevitable requirement for hospital reform and development to adapt to the new environment.After years of practice and exploration,the First People's Hospital of Changde City has focused on the"four innovations"and adopted practical measures to promote the hospital to achieve a series of achieve-ments in high-quality development through management integration,ideological integration,business integration and humanistic integration,providing reference for the deep integration of party building and business in public hospitals.

Humans ; Neoplasms, Second Primary/epidemiology* ; Neoplasms/epidemiology* ; Risk Factors ; Prognosis

OBJECTIVE: To investigate the effectiveness of "hybrid" suture with en masse combined with double-layer repair under arthroscopy in repair of delaminated rotator cuff tear by comparison with en masse suture. METHODS: Fifty-six patients with delaminated rotator cuff tears met selection criteria between June 2020 and January 2022 were included in the study. Patients were divided into two groups ( n=28) using a random number method. The patients in trial group underwent arthroscopic "hybrid" suture with the combination en masse and double-layer suture. The patients in control group underwent en masse suture under arthroscopy. There was no significant difference between the two groups ( P>0.05) in terms of gender, age, rotator cuff tear side, tear size, cause of injury, disease duration, and preoperative American Association of Shoulder and Elbow Surgeons (ASES) score, the University of California at Los Angeles (UCLA) shoulder scoring, visual analogue scale (VAS) score, and shoulder range of motion (forward flexion and lateral external rotation). The operation time, the difference of ASES score, UCLA score, VAS score, and shoulder range of motion (forward flexion and lateral external rotation) between pre- and post-operation were recorded and compared between the two groups ( P>0.05). The rotator cuff healing was examined by MRI and evaluated based on the classification criteria of rotator cuff healing proposed by Sugaya et al. RESULTS: Three cases (1 case in the trial group and 2 cases in the control group) were excluded from the study due to loss of follow-up. Twenty-seven cases in the trial group and 26 cases in the control group were included in the final study analysis. All operations of the two groups were completed successfully. There was no significant difference in the operation time between groups ( P>0.05). The follow-up time was 10-12 months (mean, 10.9 months) in the trial group and 10-13 months (mean, 11.4 months) in the control group. All incisions healed by first intention. No surgery-related complications occurred. The UCLA score, ASES score, VAS score, and shoulder range of motion (forward flexion and lateral external rotation) of both groups at 9 months after operation were significantly superior to those before operation ( P<0.05). The difference of UCLA score, ASES score, and VAS score between before and after operation in the trial group were significantly better than those in the control group ( P<0.05). There was no significant differences between the two groups in the difference of shoulder range of motion (forward flexion and lateral lateral rotation) ( P>0.05). At 9 months after operation, according to the classification criteria of rotator cuff healing proposed by Sugaya et al, MRI showed that the rotator cuff healing of the trial group was significantly better than that of the control group ( P<0.05). CONCLUSION Compared with en masse suture, arthroscopic "hybrid" suture for the repair of delaminated rotator cuff tear has advantages in relieving pain and improving shoulder joint function, and the rotator cuff healing is better.
Humans ; Rotator Cuff Injuries/surgery* ; Prospective Studies ; Shoulder Joint/surgery* ; Treatment Outcome ; Arthroscopy/methods* ; Sutures ; Range of Motion, Articular ; Magnetic Resonance Imaging

Objective: To detect varicella-zoster virus ( VZV ) antibody levels among children aged 1 to 12 years in Lu'an City, Anhui Province, so as to provide insights into perfection of the varicella immunization strategy. Methods: Children aged 1 to 12 years were recruited from Lu'an City using the stratified random sampling method from July 2018 to February 2019, and subjects' demographics were collected using questionnaires. The inoculation of varicella vaccines was retrieved through the Anhui Immunization Information Management System or review of preventive immunization certificates, and the serum VZV IgG antibody was detected using enzyme-linked immunosorbent assay ( ELISA ). The seroprevalence and geometric mean concentration of the VZV-IgG antibody were estimated, and the changes of serum the VZV-IgG antibody levels were analyzed at different time intervals following varicella vaccination. Results: Totally 734 children were surveyed, with a mean age of ( 6.94±2.95 ) years, and the subjects included 412 boys ( 56.13% ) and 322 girls ( 43.87% ). There were 514 children ( 70.03% ) with a history of varicella vaccination, including 501 children ( 68.26% ) with one dose of varicella vaccine and 13 children ( 1.77% ) with two doses. There were 297 children ( 40.46% ) positive for VZV-IgG antibody, with seroprevalence of 40.46%, and the GMC of VZV-IgG antibody was 74.97 ( 95%CI: 65.55-85.75 ) mIU/mL. The seroprevalence of the VZV-IgG antibody were 34.55%, 42.91%, and 46.15% among the unvaccinated children and children receiving one dose and two doses of varicella vaccine, with the GMCs of 53.04, 86.31 and 114.46 mIU/mL, respectively. The mean time interval between inoculation of the last dose of varicella vaccine and blood sample collection was ( 5.21±2.79 ) years, and the lowest seroprevalene (31.48%) and GMC of the VZV-IgG antibody (49.96 mIU/mL) were found 4 years after inoculation of varicella vaccine. Conclusions The serum VZV-IgG antibody level is low among children aged 1 to 12 years in Lu'an City, and the seroprevalence of the VZV-IgG antibody is affected by age and doses of varicella vaccine. A 2-dose schedule of varicella vaccine is recommended for children.

Objective:This study aims to reveal the special immune infiltrating environment and possible immune escape mechanism of giant cell tumor of bone through single-cell sequencing data.Methods:The fresh samples obtained from 4 patients with primary giant cell tumor of bone from January 2018 to December 2021 were collected, and single-cell transcriptome sequencing was performed on the 10X platform to explore the characteristics and immune environment of giant cell tumor of bone by using t-distributed stochastic neighbor embedding ( t-SNE). The main cell types and signal pathways of immune cell regulation and function in giant cell tumor of bone were observed by cell communication analysis. Results:Cell clustering, the definition of basic cell types, the classification of immune cells, and the mutual regulatory relationship between cell types were analyzed for 35 643 single-cell data from 4 giant cell tumor samples of bone. It was found that giant cell tumor of bone was composed of 9 basic cell types, in which the immune cells were mainly CD8 + T cells (51%) and the non-immune cells were mainly fibroblast like spindle stromal cells (74%). The immune infiltration of giant cell tumor of bone is dominated by cytotoxic CD8 + T cells and lacks exhausted CD8 + T cells. CD4 + T cells are characterized by high expression of immune checkpoint genes CTLA4 and TIGIT. In giant cell tumor of bone, immune cells mainly act on multinucleated osteoclast like giant cells through PARs and CCL signaling pathways, but not stromal cells. Conclusion:This study defined the main cell types of giant cell tumor of bone through single cell sequencing data, and further revealed the composition characteristics of its immune infiltration, and found that the target of its immune cells was mainly multinuclear osteoclast like giant cells, which provided effective information for further understanding the occurrence and development of giant cell tumor of bone.

Objective To explore whether albumin corrected anion gap (ACAG) is associated with long-term mortality of sepsis patients.Methods Adult patients with a diagnosis of sepsis within the first 24 hours (from December 2013 to December 2014) admitted to the intensive care unit (ICU) were included via the Sepsis database of West China Hospital Sichuan University. To record their long-term survival, patients were followed up by telephone interview one year after enrollment. ACAG was calculated according to the anion gap (AG) level within the first 24 hours admitted to ICU, and patients were divided into normal ACAG group (ACAG 12-20 mmol/L) and high ACAG group (ACAG > 20 mmol/L), and clinical characteristics and 1-year mortality were compared between groups. Patients were also divided into survivors and non-survivors according to the 1-year survival outcome, and multivariate logistic regression analysis was conducted to find independent risk factors for long-term mortality of sepsis patients.Results A total of 296 sepsis patients were enrolled in the study, with 191 (64.5%) in the high ACAG group and 105 (35.5%) in the normal ACAG group. There were no significant differences in age, gender, acute physiology and chronic health evaluation Ⅱ (APACHE Ⅱ), sequential organ failure assessment (SOFA), Charlson cormobidity index (CCI) and other background variables between groups. Compared with the normal ACAG group, patients who suffered from multiple organ dysfunction syndrome (MODS) in the high ACAG group were more prone to develop renal and gastrointestinal injury (43.5% vs. 25.7%, 52.9% vs. 33.3%, respectively), had significantly higher serum creatinine [SCr (μmol/L): 89.0 (61.0, 148.0) vs. 67.1 (48.0, 86.0)], greater need for continuous renal replacement therapy (CRRT, 16.8% vs. 6.7%), and significantly shorter length of ICU stay and hospital stay [days: 11 (5, 22) vs. 16 (18, 31), 21 (14, 39) vs. 28 (20, 47)], with statistically significant differences (allP < 0.05). It was shown by Kaplan-Meier survival analysis that 1-year cumulative survival for the high ACAG group was significantly lower than that of the normal ACAG group (55.0% vs. 67.7%,P = 0.046). It was shown by multivariate logistic regression that ACAG [odds ratio (OR) = 1.201, 95% confidence interval (95%CI) = 1.115-1.293,P = 0.000], APACHE Ⅱ (OR = 1.053, 95%CI = 1.011-1.098, P = 0.014), the incidence of septic shock (OR = 2.203, 95%CI = 1.245-3.898,P = 0.007), fungus infection (OR = 3.107, 95%CI = 1.702-5.674,P = 0.000), acute renal failure (OR = 2.729, 95%CI = 1.134-6.567,P = 0.025) and complicated with malignancy (OR = 2.929, 95%CI = 1.395-6.148,P = 0.005) were independent risk factors contributing to increased 1-year mortality among sepsis patients.Conclusion ACAG was an independent risk factor for 1-year mortality of sepsis patients.

Objective To determine the utility of single energy CT value and spectrum energy curve in identifying different cause of diffuse spleen enlargement.Methods 43 patients confirmed by either surgical pathology,aspiration biopsy or clinical comprehensive diagnosis and follow-up were assessed,including lymphoma with spleen infiltration(lymphoma group,n=18) and cirrhotic splenomegaly(liver cirrhosis group,n=25).All patients underwent upper abdomen CT scans in GSI mode and the GSI data were transferred to the Workstation AW 4.6 to acquire single energy CT value(40-140 keV,10 keV's interval) and spectrum energy curve of the spleen on the venous phase.All single energy CT values and the slope of curves were comparatively analyzed through independent-samples t test.The diagnostic efficiency were evaluated by ROC analysis.Results Under 40-140 keV energy range,single energy CT values were significantly lower in the lymphoma group than in the liver cirrhosis group(all P＜0.05).The spectrum energy curve were both types of decreasing.Under 40-90 keV,100-140 keV energy range,the slop of curves in the lymphoma group(2.42 ± 0.70,0.27± 0.08) were also significantly lower than in the liver cirrhosis group (3.11 ± 0.62,0.34± 0.07),respectively(all P ＜0.05).When the slope of curve under 40-90 keV energy range was selected as a diagnostic indicator,the area under the curve(AUC) would reach 0.77.If threshold value of 1.39 was taken,the sensitivity and specificity would be equal to 86 ％ and 64 ％,respectively.Conclusion Single energy CT value and spectrum energy curve are helpful for differentiation of lymphoma with spleen infiltration from cirrhotic splenomegaly.