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 investigate the completion rate of tumor evaluation at initial assessment and after neoadjuvant therapy for mid and low rectal cancer patients in the national multicenter real-world database.Methods:The prospective real-world study was conducted. The clinicopathological data of 1 074 patients who underwent surgical treatment for mid and low rectal cancer in 47 national medical institutions, including Peking Union Medical College Hospital et al, from May 12,2023 to May 11,2024 were collected. Observation indicators: (1) clinical characteristics of patients with mid and low rectal cancer; (2) initial colonoscopy and pathologic evaluation of tumors in patients with mid and low rectal cancer; (3) initial imaging evaluation of patients with mid and low rectal cancer; (4) imaging evaluation after neoadjuvant therapy for patients with mid and low rectal cancer. Measurement data with normal distribution were represented as Mean± SD, and measurement data with skewed distribution were represented as M( Q1, Q3). Count data were described as absoluter numbers and/or percentages. Results:(1) Clinical characteristics of patients with mid and low rectal cancer. Of the 1 074 patients, there were 713 males and 361 females, aged 63(56,70)years. The body mass index of 1 074 patients was 24(21,26)kg/m 2.For American Society of Anesthesiologists classification, there were 147 cases of stage Ⅰ, 641 cases of stage Ⅱ, 157 cases of stage Ⅲ, 2 cases of stage Ⅳ, and there were 127 cases missing data. (2) Initial colonoscopy and pathologic evaluation of tumors in patients with mid and low rectal cancer. Of the 1 074 patients, there were 787 cases (73.28%) undergoing complete colonoscopy, and there were only 197 cases (18.34%) undergoing immunohistochemical evaluation of all four mismatch repair proteins. (3) Initial imaging evaluation of patients with mid and low rectal cancer. Of the 1 074 patients, there were 842(78.40%) patients completing magnetic resonance imaging (MRI) or ultrasound evaluation, and there were 914(85.10%) patients completing chest, abdomen, and pelvis enhanced computed tomography (CT) evaluation. In the 149 patients completing rectal ultrasound evaluation, there were 122 cases (81.88%) comple-ting T staging evaluation, and there were 81 cases (54.36%) completing N staging evaluation. In the 808 patients completing rectal MRI evaluation, there were 708 cases (87.62%) completing T staging evaluation, and there were 590 cases (73.02%) completing N staging evaluation. (4) Imaging evalua-tion after neoadjuvant therapy for patients with mid and low rectal cancer. Of the 388 patients with neoadjuvant therapy, there were 332 patients (85.57%) completing MRI or ultrasound evaluation, and there were 327 patients (84.28%) completing chest, abdomen, and pelvis enhanced CT evalua-tion. In the 70 patients completing rectal ultrasound evaluation, there were 65 cases (92.86%) com-pleting T staging evaluation, and there were 49 cases (70.00%) completing N staging evaluation. In the 327 patients completing rectal MRI evaluation, there were 246 cases (75.23%) completing T staging, and there were 228 cases (69.72%) completing N staging evaluation. Conclusion:The com-pletion rate of tumor imaging evaluation at initial assessment and after neoadjuvant therapy for mid and low rectal cancer patients on a national scale is relatively good.

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.

Objective This study employs bibliometrics and visualization analysis techniques to systematically review and analyze the current status and evolutionary trends of research on Dysosma versipellis,both domestically and internationally.The discussion encompasses the current state of research on Dysosma versipellis as well as the latest hot topics in the field.Methods The literatures related to Dysosma versipellis and meeting the inclusion criteria were searched through China Knowledge Network(CNKI)and Web of science(WOS)databases,and the core author groups,cooperative relationships among research institutions and key words were analyzed by CiteSpace software.Results Eventually,1793 Chinese documents and 771 English documents were included.The author with the highest number of Chinese articles is Zeng Kang;The authors with the highest number of articles in English are Arora Rajesh;The number of articles published in China generally increases first and then decreases;The Shanghai Institute of Pharmaceutical Industry is the institution that studies Dysosma versipellis the most,and the exchanges and cooperation among institutions in the research field need to be further deepened.The keyword analysis shows that the research content of Dysosma versipellis mainly focuses on anti-tumor application,extraction and synthesis of derivatives.Conclusion At present,the extraction and synthesis of lignans and their related derivatives from Dysosma versipellis and their clinical application in the treatment of condyloma acuminatum and anti-tumor are the research hotspots of Dysosma versipellis.The toxicological mechanisms of damage caused by Dysosma versipellis and its active components,as well as potential therapeutic approaches,are expected to become a focal point of future research.

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.

Objective This study employs bibliometrics and visualization analysis techniques to systematically review and analyze the current status and evolutionary trends of research on Dysosma versipellis,both domestically and internationally.The discussion encompasses the current state of research on Dysosma versipellis as well as the latest hot topics in the field.Methods The literatures related to Dysosma versipellis and meeting the inclusion criteria were searched through China Knowledge Network(CNKI)and Web of science(WOS)databases,and the core author groups,cooperative relationships among research institutions and key words were analyzed by CiteSpace software.Results Eventually,1793 Chinese documents and 771 English documents were included.The author with the highest number of Chinese articles is Zeng Kang;The authors with the highest number of articles in English are Arora Rajesh;The number of articles published in China generally increases first and then decreases;The Shanghai Institute of Pharmaceutical Industry is the institution that studies Dysosma versipellis the most,and the exchanges and cooperation among institutions in the research field need to be further deepened.The keyword analysis shows that the research content of Dysosma versipellis mainly focuses on anti-tumor application,extraction and synthesis of derivatives.Conclusion At present,the extraction and synthesis of lignans and their related derivatives from Dysosma versipellis and their clinical application in the treatment of condyloma acuminatum and anti-tumor are the research hotspots of Dysosma versipellis.The toxicological mechanisms of damage caused by Dysosma versipellis and its active components,as well as potential therapeutic approaches,are expected to become a focal point of future research.