Short stature(SS) and disorder of sex development(DSD) are two types of conditions characterized by high clinical heterogeneity and complex etiology. There is interplay and mutual influence between the pathways regulated by growth hormone and sex hormones in skeletal and gonadal development. Causing co-occurrence of SS and DSD, as seen in conditions such as Turner syndrome, mixed gonadal dysgenesis, Noonan syndrome, and Prader-Willi syndrome. Patients with these disorders are often accompanied by distinctive facial features, endocrine and metabolic disturbances, cardiovascular disease, and other systemic complications. Genetic factors involved include chromosomal numerical and structural abnormalities; mutations in genes such as SHOX, CHD7, SOX8, and PTPN11, dysregulation of the RAS/mitogen activated protein kinase signaling pathway, and defects in imprinted genes. This article aims to systematically review the relevant research progress, in order to provide a reference for the clinical diagnosis and treatment strategies of patients with coexisting SS and DSD.

OBJECTIVE: To explore the prenatal and postnatal phenotypes of 22q11.2 microdeletion syndrome (22q11.2DS) and enhance clinical understanding of this condition. METHODS: Data were collected from 86 fetuses diagnosed with 22q11.2DS at four prenatal diagnostic centers across China between January 2014 and August 2025. Prenatal imaging findings, pregnancy outcomes, and postnatal conditions were analyzed. RESULTS: Among the 86 fetuses, complete ultrasound data were available for 65 cases. Cardiovascular abnormalities were observed in 42 cases, thymic hypoplasia or aplasia in 7 cases, urinary system anomalies in 6 cases, nuchal translucency (NT) thickening in 7 cases, butterfly vertebrae, clubfoot, omphalocele and diaphragmatic hernia in 1 case each, cleft lip and palate in 2 cases, and ultrasound soft markers in 13 cases. The parents of 9 fetuses opted to continue with the pregnancy. Among these, 6 showed no significant ultrasound abnormalities and no related phenotypes postnatally, while the remaining 3 exhibited ultrasound anomalies with postnatal manifestations including developmental delay, immunodeficiency, and cardiac defects. CONCLUSION Fetuses with 22q11.2DS may exhibit various ultrasound abnormalities in multiple systems before and after birth. In addition to cardiovascular anomalies, they may also present with thymic hypoplasia or aplasia, thickened NT, and urinary abnormalities. Fetuses with thickened NT or thymic anomalies should be closely monitored, and thymic assessment should be included in routine prenatal imaging evaluations. For fetuses with 22q11.2DS who show no ultrasound abnormalities, the risk of developing severe phenotypes after birth is relatively low, but occult palate clefts and psychiatric disorders cannot be ruled out. Due to limitations in sample size and follow-up duration, above conclusions require further validation through large-scale prospective studies.
Humans ; Female ; Pregnancy ; Ultrasonography, Prenatal ; DiGeorge Syndrome/genetics* ; Adult ; Male ; Follow-Up Studies ; Fetus/diagnostic imaging* ; Phenotype ; Infant, Newborn

ObjectiveTo develop an exercise intervention program for patients undergoing total knee arthroplasty based on the daily goal management pathway, and preliminarily verify its clinical feasibility and effectiveness. MethodsThe intervention program was formulated based on the daily goal management pathway and hope theory, combined with literature analysis, qualitative interviews and expert consultation. Feasibility evaluation was conducted among orthopedic nurses and patients in Beijing Bo'ai Hospital from September to November, 2025. A controlled pilot study was performed with 15 patients in each group: the control group received routine rehabilitation care, while the experimental group received the developed intervention program. The Hospital for Special Surgery Knee Score (HSS), range of motion (ROM) of knee, functional exercise compliance score, Visual Analogue Scale (VAS) and Western Ontario and McMaster Universities Osteoarthritis Index (WOMAC) were compared between two groups. ResultsThe program covered three themes from admission to three weeks postoperatively, including seven training methods and 32 specific recommendations. Feasibility results showed 100% patient recruitment rate, 93.75% retention rate and 96.94% program acceptance rate. A total of 21 orthopedic nurses scored ≥ 4.5 on all four dimensions of the program. After intervention, HSS score and knee ROM significantly increased (|t| > 6.205, P < 0.001), while WOMAC and VAS score decreased (t = 9.127, Z = -3.415, P < 0.01) in the experimental group; in the control group, VAS score decreased (Z = -3.122, P = 0.002), and knee ROM reduced (t = -2.622, P = 0.015), with no significant improvement in other indicators (P > 0.05); all the indexes were better in the experimental group than in the control group (|t| > 7.949, |Z| > 2.990, P < 0.01), including the functional exercise compliance (t = -8.565, P < 0.001). ConclusionThe exercise intervention program based on the daily goal management pathway is scientific, feasible and preliminarily effective, which can provide a new structured and humanized nursing for early exercise training of patients during hospitalization for total knee arthroplasty.

Objective:To evaluate the clinical efficacy of left ventricular assist device(LVAD) in the treatment of end-stage heart failure.Methods:This is a retrospective case series study. Data were retrospectively analyzed from 48 patients treated at eight domestic cardiac surgery centers in China between March 2022 and September 2024, who underwent LVAD implantation due to end-stage heart failure. All surgeries were led by the cardiovascular surgery team from Nanjing First Hospital. The study included 42 male and 6 female patients, aged (59.1±12.3) years (range:28 to 73 years). All patients had a preoperative New York Heart Association(NYHA) functional class of Ⅳ. General preoperative data, intraoperative extracorporeal circulation time, cross-clamp time, postoperative ICU stay, hospital stay, pump parameters at discharge, intraoperative and postoperative left ventricular end-diastolic diameter, left ventricular ejection fraction, and follow-up results post-discharge were collected. The generalized estimation equation was used to compare the difference of cardiac function indexes in patients with different follow-up time points. The Tukey′s Honestly Significant Difference test was used for pairwise comparison within the group.Results:The surgery was successfully completed for 47 patients, and 1 perioperative death. The extracorporeal circulation time was (122.4±21.6) minutes (range: 101 to 200 minutes), the cross-clamp time was (70.1±18.3) minutes (range: 101 to 200 minutes), the postoperative ICU length of stay was (6.9±3.2) days (range: 2 to 23 days), and the hospital length of stay was (28.1±4.2) days (range: 23 to 42 days). At discharge, the blood bump flow rate was (3.4±0.6) L/min(range: 3.1 to 3.6 L/min), and speed was (2 791.3±142.0) r/min(range: 2 680 to 3 250 r/min). The follow-up period was (12.2±0.78) months (range:2 to 24 months) of 47 patients. One case underwent heart transplantation during the follow-up period, and 3 cases died, with no major device malfunction events. Three months post-surgery, the patients showed a significant reduction in left ventricular end-diastolic diameter compared to pre-surgery ((69.1±8.3) mm vs. (77.3±8.3) mm, q=6.73, P<0.01); the left ventricular ejection fraction significantly increased ((29.6±8.0)% vs. (23.2±5.8)%, q=6.49, P<0.01); and the 6-minute walk distance significantly improved ((382.0±12.8)metres vs. (114.8±18.4)metres, q=116.56, P<0.01). Six months postoperatively, all patients′ cardiac function had recovered to NYHA class Ⅰor Ⅱ. Conclusions:Preliminary research findings indicate that left ventricular assist device therapy yields favorable outcomes in the treatment of end-stage heart failure. serving as a bridge to transplantation, recovery, or a destination therapy.

Objective:To establish and assess the quality control and improvement system for metabolic and bariatric surgery in Beijing.Methods:Based on relevant documents from the National Health Commission and the Beijing Municipal Health Commission,and referencing the Metabolic and Bariatric Surgery Accreditation and Quality Improvement Program (MBSAQIP) by the American Society for Metabolic and Bariatric Surgery,a quality control system was developed under the Beijing Quality Control and Improvement Center of Metabolic and Bariatric Surgery. The system incorporated on-site evaluations,data registration,and specialized training. From May to December 2023,on-site assessments were conducted at 21 hospitals in Beijing performing bariatric surgery,evaluating personnel qualifications,infrastructure,clinical workflows,and postoperative follow-up. A quality control database was created to collect real-time surgical data,and training was provided for data entry and professional skills. Assessment results were classified as excellent,qualified,or needing improvement,with rectification suggestions offered and follow-up visits conducted to track progress.Results:All 21 hospitals achieved a 100% compliance rate for surgical indications, 16 (76.2%) met standardized surgical operation criteria,and 14 (66.7%) had standardized postoperative management. However,only 5 (23.8%) achieved a 12-month postoperative follow-up rate of ≥60%,and 4 (19.1%) had established specialized databases. Key challenges included insufficient specialized staffing (19.1%), lack of multidisciplinary collaboration (47.6%), inadequate equipment (57.1%), and low follow-up rates (57.1%). The database collected data from over 2 000 patients across 111 fields. After rectification, specialized database coverage rose to 61.9% (13 hospitals). Multi-level training programs developed backbone physicians and specialized nurses,significantly addressing the shortage of specialized personnel.Conclusion:The quality control system established in this study,through the integration of on-site evaluation,data registration,and specialized training,effectively enhances the standardization of surgical practices and data management capabilities.

Objective:To investigate the correlation between metabolic syndrome (MS), its different components and the risk of cholecystolithiasis and gallbladder polyp in Uygur population in rural areas of southern Xinjiang.Methods:This study was a prospective cohort study. A baseline survey was conducted in August 2016. A typical sampling method was used to select 10 476 Uygur people in rural areas of southern Xinjiang as the research objects. Baseline clinical data were collected, including demographic data such as age, gender, and education level, and laboratory examination indicators such as blood glucose and triglyceride levels. According to the MS diagnostic criteria of the relevant guidelines, 10 476 subjects were divided into the MS group (3 475 cases) and the non-MS group (7 001 cases). The incidence of cholecystolithiasis and gallbladder polyp was followed up in 2019, 2021 and 2023, respectively. Cox regression was used to analyze the correlation between MS, its different components and the risk of cholecystolithiasis and gallbladder polyp. Chi-square test and independent sample t test were used for statistical analysis. Results:The median follow-up time was 6.43 years in 10 476 subjects, and the overall cumulative incidence of cholecystolithiasis and gallbladder polyp was 5.43% (569/10 476). The cumulative incidence of cholecystolithiasis and gallbladder polyp in the MS group was 10.73% (373/ 3 475), which was significantly higher than that in the non-MS group (2.80% (196/7 001)); χ2= 284.62, P<0.001). The results of multivariate Cox regression analysis showed that, 41 to 59 years old ( HR=1.26, 95% confidence interval (95% CI): 1.03 to 1.54, P=0.025), ≥60 years old ( HR=1.88, 95% CI: 1.45 to 2.45, P<0.001), female ( HR=1.34, 95% CI: 1.13 to 1.60, P=0.001), MS ( HR=2.19, 95% CI: 1.59 to 3.01, P<0.001), hypertriglyceridemia ( HR=1.47, 95% CI: 1.18 to 1.83, P=0.001), hypertension ( HR=1.30, 95% CI: 1.04 to 1.62, P=0.023), and hyperglycemia ( HR=1.24, 95% CI: 1.01 to 1.52, P=0.041) were independent risk factors for cholecystolithiasis and gallbladder polyp. After the adjustment of age and gender, MS ( HR=3.39, 95% CI: 2.82 to 4.07, P<0.001), hypertriglyceridemia ( HR=2.37, 95% CI: 2.00 to 2.81, P<0.001), hypertension ( HR=2.00, 95% CI: 1.66 to 2.41, P<0.001), and hyperglycemia ( HR=1.86, 95% CI: 1.55 to 2.23, P<0.001) were still correlated with cholecystolithiasis and gallbladder polyp, and there was the srtongest correlation between MS and cholecystolithiasis and gallbladder polyp. The results of univariate Cox regression analysis showed that along with the increase of accumulated of MS components, the risk of cholecystolithiasis and gallbladder polyp significantly increased (1 to 5 components corresponding HR (95% CI) were 1.92 (1.13 to 3.24), 2.21 (1.32 to 3.69), 6.91 (4.22 to 11.30), 8.56 (5.15 to 14.22), and 10.73 (5.66 to 20.33); P=0.015, =0.002, <0.001, <0.001, and <0.001); after age and gender were adjusted, this trend still existed (1 to 5 components corresponding HR (95% CI) were 1.81(1.07 to 3.06), 1.95(1.16 to 3.27), 5.64(3.42 to 9.32), 6.69(3.97 to 11.25), and 7.76(4.04 to 14.91); P=0.028, =0.012, <0.001, <0.001, and <0.001). Conclusion:MS and its components can increase the risk of cholecystolithiasis and gallbladder polyp, and the risk of cholecystolithiasis and gallbladder polyp significantly increases along with the increase of accumulated of MS components.

The female reproductive system is essential for sustaining reproductive endocrine homeostasis,however,its vulnerability to various endogenous and exogenous insults,including pathological conditions,pharmacological agents,genetic predispositions,and environmental factors,often results in compromised fertility.The existing protective approaches(including surgical interventions,hormonal replacement therapies,and assisted reproductive techniques)are constrained by several limitations,such as adverse therapeutic effects,technical complexities,and their incapacity to reverse ovarian senescence.Artemisinin and its derivatives(ARTs),characterized by their unique endoperoxide bridge configuration,have exhibited outstanding therapeutic performance across multiple domains including malaria treatment,anticancer therapy,inflammation modulation,and parasitic infection control.Emerging research has identified their novel protective capabilities against various reproductive system pathologies.This comprehensive review systematically elucidates the molecular mechanisms underlying artemisinin-based interventions in reproductive pathologies and evaluates their clinical translation prospects,thereby proposing innovative strategies for the development of next-generation fertility-protective agents with enhanced safety and efficacy profiles.

Objective:To evaluate the analgesic effect of intercostal muscle plane block of external oblique muscle in patients undergoing endoscopic pancreaticoduodenectomy.Methods:A total of 48 patients undergoing endoscopic pancreaticoduodenectomy under elective general anesthesia in Nanjing First Hospital from February to July 2023 were prospectively selected and divided into two groups ( n=24) according to random number table method: abdominal external oblique intercostal muscle plane block combined with general anesthesia group (EG group) and general anesthesia group (G group). The EG group was blocked in the intercostal muscle plane of the external oblique muscle before general anesthesia induction, and 0.375% ropivacaine 20 ml was injected on both sides, respectively. Patient-controlled intravenous analgesia (PCIA) was performed in both groups after operation, and the pain Visual Analogue Scale (VAS) score was less than 4 points. When the VAS score was ≥4, 1 mg oxycodone was injected intravenously for relief and analgesia. VAS scores at 30 min (T 0), 6 h (T 1), 12 h(T 2), 24 h(T 3), 48 h(T 4) after extubation, intraoperative drug and fluid dosage, postoperative sleep quality, analgesic satisfaction score, remedial analgesia and the occurrence of adverse reactions were recorded. Results:The scores of rest and exercise VAS at T 0, T 1, T 2, T 3 and T 4 in the EG group were significantly lower than those in the G group (all P<0.05). The dosage of norepinephrine, propofol, remifentanil and total fluid infusion in the EG group were significantly lower than those in the G group (all P<0.05). The sleep quality and analgesic satisfaction of the EG group were better than those of the G group (all P<0.05), the first time of PCIA compression after surgery was longer than that of the G group ( P<0.05), the number of effective compressions, the amount of oxycodone relief and analgesia, the proportion of nausea and vomiting, and the stay time of anesthesia intensive care unit (AICU) were lower than those of the G group (all P<0.05). There was no significant difference in total hospital stay between the two groups ( P>0.05). Conclusions:Compared with general anesthesia alone, abdominal external oblique intercostal muscle plane block combined with general anesthesia in patients with endoscopic pancreaticoduodenectomy has significant postoperative analgesia effect, which can not only reduce postoperative VAS score and opioid consumption, but also improve sleep quality and increase postoperative analgesia satisfaction. Ultrasound-guided intercostal muscle plane block of external oblique muscle can be used as a better analgesic method in endoscopic pancreaticoduodenectomy.

Objective To elucidate the mechanism through which Gypenoside L inhibits the growth of colon cancer by modulating carnitine palmitoyltransferase 1B (CPT1B),a pivotal enzyme in the fatty acid metabolism pathway. Methods Through in vitro experiments,various concentrations of Gypenoside LI LI were applied to inter-vene in colon cancer RKO and SW620 cells. The effects of Gypenoside LI on these cells were comprehensively evalu-ated using the CCK-8 assay,wound healing assay,colony formation assay,and live-dead cell staining,focusing on its impact on cell proliferation,migration,and apoptosis. Additionally,a human colon cancer tissue microarray (TMA) was utilized in conjunction with multiplex fluorescence immunohistochemistry to analyze the expression of CPT1B in colon cancer and adjacent tissues. SW620 cells were transfected with siRNA,and the mRNA and protein expression levels of CPT1B post-transfection were assessed using quantitative real-time PCR (qPCR) and Western blotting. Furthermore,an in vivo nude mouse colon cancer model was established to investigate the inhibitory effect of Gypenoside LI LI on colon cancer growth. Results In vitro experiments demonstrated that Gypenoside LI LI effectively inhibited the proliferation and migration of RKO and SW620 cells in a concentration-and time-dependent manner. Additionally,multiple fluorescence immunohistochemistry analyses revealed that the expression level of CPT1B in colon cancer tissues was significantly higher than that in adjacent non-tumor tissues. Gypenoside LI LI promoted ROS accumulation by inhibiting CPT1B expression. In vivo experiments further confirmed that Gypenoside LI LI could inhibit tumor formation in nude mice and reduce CPT1B expression. Conclusions This study elucidates the mechanism by which Gypenoside LI inhibits the growth of colon cancer cells. Specifically,it downregulates CPT1B,leading to increased accumulation of reactive oxygen species (ROS),disruption of fatty acid oxidation metabolism,and ultimately inducing apoptosis in colon cancer cells. These findings offer valuable insights into colon cancer treatment,suggesting new therapeutic strategies and potential drug targets.

Objective To determine the chemical composition of TangNiaoLing Tablets by UHPLC-Q-Exactive-Orbitrap-MS/MS.Methods A Waters ACQUITY HSS T3 column(100 mm×2.1 mm,1.8 μm)was used for separation at a total flow rate of 0.2 mL/min.The mobile phase included an aqueous solution of 0.1%formic acid and acetonitrile mixed with 0.1%formic acid was supplied.The injection volume was set at 2 μL and the column oven temperature was 40℃.High-resolution mass spectrometric data were obtained by concurrently scanning the positive and negative ion modes.The identification was accomplished by inferring the empirical fragmentation patterns and comparing it with databases and references.Results 100 different chemical elements,including triterpenes,flavonoids,phenylpropanoids,phenylethanoid glycosides,iridoid glycosides,and phenols,among others were identified from the 50%methanol extract of TangNiaoLing pills.Conclusion The chemical contents of TangNiaoLing tablets were identified and analyzed using the UHPLC-Q-Exactive-Orbitrap-MS/MS method for the first time.This served as a foundation for future research into the tablets' effective components and quality control.