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.

Pristimerin, which is one of the compounds present in Celastraceae and Hippocrateaceae, has antitumor effects. However, its mechanism of action in esophageal squamous cell carcinoma (ESCC) remains unclear. This study aims to investigate the efficacy and mechanism of pristimerin on ESCC in vitro and in vivo. The inhibitory effect of pristimerin on cell growth was assessed using trypan blue exclusion and colony formation assays. Cell apoptosis was evaluated by flow cytometry. Gene and protein expressions were analyzed through quantitative reverse transcription-polymerase chain reaction (qRT-PCR), Western blotting, and immunohistochemistry. RNA sequencing (RNA-Seq) was employed to identify significantly differentially expressed genes (DEGs). Cell transfection and RNA interference assays were utilized to examine the role of key proteins in pristimerin?s effect. Xenograft models were established to evaluate the antitumor efficiency of pristimerin in vivo. Pristimerin inhibited cell growth and induced apoptosis in ESCC cells. Upregulation of Noxa was crucial for pristimerin-induced apoptosis. Pristimerin activated the Forkhead box O3a (FoxO3a) signaling pathway and triggered FoxO3a recruitment to the Noxa promoter, leading to Noxa transcription. Blocking FoxO3a reversed pristimerin-induced Noxa upregulation and cell apoptosis. Pristimerin treatment suppressed xenograft tumors in nude mice, but these effects were largely negated in Noxa-KO tumors. Furthermore, the chemosensitization effects of pristimerin in vitro and in vivo were mediated by Noxa. This study demonstrates that pristimerin exerts an antitumor effect on ESCC by inducing AKT/FoxO3a-mediated Noxa upregulation. These findings suggest that pristimerin may serve as a potent anticancer agent for ESCC treatment.
Forkhead Box Protein O3/genetics* ; Humans ; Apoptosis/drug effects* ; Esophageal Squamous Cell Carcinoma/physiopathology* ; Esophageal Neoplasms/physiopathology* ; Pentacyclic Triterpenes ; Animals ; Cell Line, Tumor ; Proto-Oncogene Proteins c-bcl-2/genetics* ; Mice ; Signal Transduction/drug effects* ; Mice, Nude ; Cell Proliferation/drug effects* ; Triterpenes/pharmacology* ; Xenograft Model Antitumor Assays ; Mice, Inbred BALB C ; Male ; Gene Expression Regulation, Neoplastic/drug effects*

Objective To investigate the effects of different contrast injection schemes on the image quality of triple-rule-out com-puted tomography angiography(TRO-CTA).Methods A total of 691 patients with acute chest pain who underwent TRO-CTA exami-nation from multiple centers were prospectively selected and randomly divided into mixed group and unmixed group according to dif-ferent contrast injection methods.The image quality of aorta,pulmonary artery and coronary artery in the two groups was evaluated subjectively and objectively and the radiation dose was calculated.Results There were no significant differences in subjective image quality scores,aorta and coronary CT values,signal-to-noise ratio(SNR)and contrast-to-noise ratio(CNR)between the two groups(P>0.05),while there were significant differences in pulmo-nary CT values,SNR,CNR and radiation dose between the two groups(P<0.05).Conclusion The utilization of a mixed contrast injection scheme in TRO-CTA can satisfy diagnostic require-ments while ensuring a low proportional dosage and reduced radiation dose,which has clinical application value.

Objective To investigate the effects of different contrast injection schemes on the image quality of triple-rule-out com-puted tomography angiography(TRO-CTA).Methods A total of 691 patients with acute chest pain who underwent TRO-CTA exami-nation from multiple centers were prospectively selected and randomly divided into mixed group and unmixed group according to dif-ferent contrast injection methods.The image quality of aorta,pulmonary artery and coronary artery in the two groups was evaluated subjectively and objectively and the radiation dose was calculated.Results There were no significant differences in subjective image quality scores,aorta and coronary CT values,signal-to-noise ratio(SNR)and contrast-to-noise ratio(CNR)between the two groups(P>0.05),while there were significant differences in pulmo-nary CT values,SNR,CNR and radiation dose between the two groups(P<0.05).Conclusion The utilization of a mixed contrast injection scheme in TRO-CTA can satisfy diagnostic require-ments while ensuring a low proportional dosage and reduced radiation dose,which has clinical application value.

Objective To explore the research progress, research hotspot and development trend of tigecycline resistance based on the quantitative analysis and visualization function of CiteSpace. Methods The data were collected from 4,263 Chinese and English articles on tigecycline resistance in CNKI, Wanfang, VIP and Web of Science (WOS) databases from 2012 to 2022. CiteSpace 5.8.R3 software was used to analyze the cooperative network of authors, the cooperative network of countries and institutions, the total citation times of journals, and keywords included in the literature, to reveal the hotspots and trends of tigecycline resistance research. Results The number of articles published in English literature was higher than that in Chinese literature. China had the largest number of published documents, showing a significant international academic influence in this research field. Countries all over the world were concerned about the resistance of tigecycline, but Chinese literatures focused more on the clinical infection and prevention of tigecycline resistance, while English literatures placed special emphasis on the research about the drug resistance mechanism of tigecycline. Conclusion The research direction at home and abroad is basically the same, but the research focus has gradually shifted from the clinical treatment and monitoring of tigecycline to the molecular level of drug resistance mechanism.

Objective In this study, a strain of colistin and tigecycline-resistant bacteria isolated in 2009 was analyzed, and the structure of drug-resistant plasmid and genetic environment were discussed, so as to provide basis for the prevention and control of multidrug-resistant bacteria. Methods A strain (GZ12244) with positive mcr and tet(M) was obtained by screening colistin and tigecycline resistance genes. Vitek-2 was used for strain identification, and the drug sensitivity test was carried out by broth dilution method. The molecular typing, drug resistance genes, insertion sequences, plasmid structure and genetic background were analyzed by genome-wide sequencing and bioinformatics. Results Strain GZ12244 is Klebsiella pneumoniae, which is resistant to colistin B, tigecycline, cefuroxime and tetracycline, and carries a variety of drug-resistant related genes such as mcr-1 and tet(M), and some of the drug-resistant genes with antibiotic efflux and antibiotic target change have amino acid substitution mutations. Mcr-1 and tet(M) coexist in a plasmid, and mcr-1 flanked by two insertion sequences ISApl1. There are insertion sequences such as IS15, IS1D and ISEc63 in the upstream and downstream of tet(M) gene. Conclusion Klebsiella pneumoniae GZ12244 is a multidrug-resistant strain. The drug-resistant gene exists in plasmid, and the mobile elements in upstream and downstream may spread the drug-resistant gene.

Humans ; Infant, Newborn ; Intensive Care Units, Neonatal ; Logistic Models ; Phenotype ; Risk Factors

OBJECTIVE: To summarize the clinical characteristics and identify gene mutations of 2 probands with Rubinstein-Taybi syndrome (RSTS). METHODS: Clinical characteristics of 2 probands with Rubinstein-Taybi syndrome were summarized. Genomic DNA was extracted from peripheral blood samples from the patients and their parents. Genomic DNA was subjected to whole exome next generation sequencing. Suspected variants were confirmed by Sanger sequencing. RESULTS: The two patients were characterized by typical facial features, broad thumbs and big toes, intellectual disability, and postnatal growth retardation. Two variants of the CREBBP gene, namely c.3779+1G>A and c.5052_c.5053insT, were respectively identified in the 2 patients. Among these, c.3779+1G>A was a previously known pathological mutation, while c.5052_c.5053insT was unreported previously. Both variants were predicted to be pathological. CONCLUSION Two cases of Rubinstein-Taybi syndrome were diagnosed, which facilitated the diagnosis and genetic counselling.
CREB-Binding Protein ; genetics ; Genetic Testing ; High-Throughput Nucleotide Sequencing ; Humans ; Phenotype ; Rubinstein-Taybi Syndrome ; genetics

Objective: To summarize the clinical characteristics and identify gene mutations of 2 probands with Rubinstein-Taybi syndrome (RSTS). Methods: Clinical characteristics of 2 probands with Rubinstein-Taybi syndrome were summarized. Genomic DNA was extracted from peripheral blood samples from the patients and their parents. Genomic DNA was subjected to whole exome next generation sequencing. Suspected variants were confirmed by Sanger sequencing. Results: The two patients were characterized by typical facial features, broad thumbs and big toes, intellectual disability, and postnatal growth retardation. Two variants of the CREBBP gene, namely c. 3779+ 1G>A and c. 5052_c.5053insT, were respectively identified in the 2 patients. Among these, c. 3779+ 1G>A was a previously known pathological mutation, while c. 5052_c.5053insT was unreported previously. Both variants were predicted to be pathological. Conclusion Two cases of Rubinstein-Taybi syndrome were diagnosed, which facilitated the diagnosis and genetic counselling.

Objective To investigate the dynamic levels of autophagy after intimal injury of carotid artery. Meth-ods In this study ,40 male SD rats were randomly assigned to operated(n=20)and control groups(n=20). Balloon inju-ry was induced in the left carotid artery in operated groups .Rats in control groups just received carotid artery exposure without injury. Western blot was used to detect the levels of Beclin-1, LC3 and p62 at the third and seventh days. Immu-nofluorescence was used to examine the expression of Beclin-1 and LC3 at the third and seventh days. Results The ex-pression levels of Beclin-1 and LC3 were increased while the levels of P62 were decreased at the third and seventh days after carotid balloon injury. Beclin-1 and LC3 were present in neointima and medintima. The numbers of both Beclin-1 positive cells and LC3 positive cells were increased at the third and seventh days after carotid injury. The numbers of Be-clin-1 positive cells were 18.60 ± 1.34 in neointima and 6.40 ± 0.55 in medintima at third day, (27.6 ± 2.19 in neointima and 6.40±0.55 in medinitima at the seventh day,(all P=0.000,n=5). The numbers of LC3 positive cells were 10.60±1.52 in neointima and 3.00 ± 0.71 in medintima at third day, (P=0.000,n=5;at the seventh day 21.20 ± 2.49;3.00 ± 0.71,P=0.000,n=5). Conclusions This study domenstrates that autophagy was activated after carotid injury and the chang is dy-namic, which may contribute to neointima formation.