OBJECTIVE: To investigate the prenatal manifestation and genetic basis for two fetuses suspected for Osteocraniostenosis (OCS). METHODS: Two fetuses undergoing invasive prenatal diagnosis at Cangzhou People's Hospital in April and August 2021 for short long bones and abnormal skull morphology were selected as the study subjects. Clinical data were collected and analyzed. Genomic DNA was extracted from amniotic fluid and peripheral blood samples of the two couples. Candidate variants were validated by Sanger sequencing. Literature was retrieved from CNKI, Wanfang Data Knowledge Service Platform and PubMed using keywords including "FAM111A gene", "gracile bone dysplasia", "FAM111A" and "osteocraniostenosis" from January 1, 2000 to June 30, 2025. This study was approved by the Medical Ethics Committee of the hospital (Ethics No.: K2020-049). RESULTS: Fetus 1 was found to have short limbs, abnormal skull morphology and shallow cerebral sulci. Fetus 2 showed short limbs, irregular skull halo, prominent forehead and bilateral frontal narrowing. Trio-WES revealed that fetus 1 has carried a heterozygous missense variant c.1582G>C (p.Asp528His) in exon 4 of the FAM111A gene, which was unreported previously. Fetus 2 has harbored a heterozygous in-frame deletion c.1020_1022delTTC (p.Ser343del) in exon 6 of the FAM111A gene, which has been recorded as likely pathogenic by the ClinVar and HGMD databases. Sanger sequencing confirmed that the parents of both fetuses were wild-type for the variant sites. A total of 9 previously reported patients with FAM111A-related gracile bone dysplasia/OCS from 4 publications were retrieved. The main clinical features included intrauterine growth restriction, hypomineralized skull, gracile long bones with narrow medullary cavities and characteristic facial anomalies, which were in large in keeping with the prenatal features of the two fetuses. CONCLUSION Both fetuses were diagnosed with FAM111A-related OCS based on the characteristic prenatal findings and identification of the FAM111A variants. Above finding expanded the phenotypic spectrum of FAM111A-associated disorders and provided clues for the prenatal diagnosis and genetic counseling.
Humans ; Female ; Pregnancy ; Prenatal Diagnosis ; Phenotype ; Fetus ; Male ; Bone Diseases, Developmental/genetics* ; Adult

To thoroughly implement the strategic deployment outlined in the Opinions of the Central Committee of the Communist Party of China and the State Council on Promoting the Inheritance and Innovative Development of Traditional Chinese Medicine regarding research on dominant diseases of traditional Chinese medicine and to uphold the development philosophy of equal emphasis on traditional Chinese medicine and western medicine，the China Association of Chinese Medicine has fully played a leading academic role by systematically organizing and conducting a series of academic youth salons on clinical dominant diseases of traditional Chinese medicine. On September 13，2024，the 36^th Youth Salon on Clinical Dominant Diseases was successfully held in Nanjing，focusing on the advantages of traditional Chinese medicine and the integrative traditional Chinese medicine and western medicine in the diagnosis and treatment of erectile dysfunction （ED）. The conference brought together leading experts from traditional Chinese medicine，western medicine，and interdisciplinary fields，facilitating in-depth multidisciplinary discussions that led to key consensus on optimizing traditional Chinese medicine treatment protocols for ED，researching and developing new drugs of traditional Chinese medicine，and advancing interdisciplinary development in traditional Chinese medicine. This salon systematically sorted out the clinical strengths and distinctive features of traditional Chinese medicine in the diagnosis and treatment of ED. Based on current research foundations and clinical needs，it identified key directions for future scientific layout and scientific research tackling： （1） Standardization of syndrome differentiation system of traditional Chinese medicine for ED. （2） Optimization and standardization of intervention methods of integrated traditional Chinese medicine and western medicine. （3） High-quality clinical research guided by evidence-based medicine. （4） In-depth analysis of the pharmacological mechanisms of traditional Chinese medicine in the treatment of ED. （5） Clinical translation and application promotion of new drugs of traditional Chinese medicine. （6） Interdisciplinary integration and innovation in traditional Chinese medicine. For each research direction，key focus areas，expected objectives，and clinical value were further refined，along with the establishment of a scientifically sound priority funding level evaluation system. Therefore，building on the series of salons on the ED-focused dominant diseases of traditional Chinese medicine，this paper provides standardized guidance for clinical practice of traditional Chinese medicine in ED management，effectively contributing to the high-quality development of traditional Chinese medicine. It serves as a valuable reference for national scientific and technological strategic layout， research and development decision-making in new drugs of traditional Chinese medicine，research topic planning，and clinical guideline formulation.

Chronic post-surgical pain (CPSP) is a common long-term complication following lung surgery. Its high incidence significantly impacts patients’ quality of life and functional recovery, and imposes a substantial socioeconomic burden. This consensus aims to systematically establish a standardized integrated Chinese and Western medicine diagnostic and treatment framework for chronic post-lung surgery pain (CPLSP). Based on the latest domestic and international evidence-based medical research and multidisciplinary clinical experience, the working group comprehensively elaborates on core issues regarding CPLSP, including its definition, epidemiology, pathogenesis, clinical assessment, Western medical treatment, traditional Chinese medicine (TCM) treatment, and integrated strategies. The consensus emphasizes a patient-centered approach, adhering to the principles of multimodality, individualization, and stepwise management, highlighting the synergistic advantages of integrating Chinese and Western medicine throughout the entire perioperative management cycle encompassing "perioperative anti-inflammation, acute analgesia, and chronic rehabilitation." Through systematic literature retrieval and evidence integration, a total of 9 core recommendations were established to provide scientifically sound and clinically practical guidance.

BACKGROUND:With the development of the aging trend of society,the incidence of femoral neck fractures is increasing.Currently,the preferred surgical treatment is cannulated screw internal fixation.However,post-surgical femoral neck shortening occurs in some cases,resulting in impaired hip functionality.OBJECTIVE:To investigate the incidence of femoral neck shortening following the use of half-threaded cannulated screws for internal fixation in patients with femoral neck fractures,to analyze the effect on hip function,and to identify factors contributing to neck shortening.METHODS:A retrospective analysis was conducted on the medical records of 102 patients treated with half-threaded cannulated screws in an inverted triangle setup for femoral neck fractures at Affiliated Hai'an Hospital of Nantong University from January 2016 to January 2021.This group included 36 males and 66 females at the mean age of(57.2±7.7)years,with 34 cases of Garden type Ⅰ and Ⅱ fractures and 68 of Garden type Ⅲ and Ⅳ fractures.The mean bone mineral density value T was-2.8 SD.The Harris score was used to evaluate the hip function.During the follow-up period,the occurrence of femoral neck shortening was determined using X-ray imagery,and the factors influencing this shortening were examined using both univariate and multivariate regression analyses.RESULTS AND CONCLUSION:(1)Among the 102 patients with femoral neck fractures,30 patients developed femoral neck shortening,accounting for 29.4％.72 patients had no femoral neck shortening(70.6％).(2)The Harris score for patients experiencing neck shortening was significantly lower than that for patients without shortening(P＜0.05).(3)The study identified several factors associated with femoral neck shortening following the internal fixation of femoral neck fractures included age,gender,bone mineral density value T,preoperative Garden classification,and quality of reduction.These factors not only affect the shortening of the femoral neck after surgery,but are also directly related to the functional performance of the patient's hip joint.(4)Femoral neck shortening after surgery for femoral neck fracture is associated with various clinical parameters,especially the patient's age,gender,bone mineral density,preoperative classification,and accuracy of reduction during surgery.

BACKGROUND:With the development of the aging trend of society,the incidence of femoral neck fractures is increasing.Currently,the preferred surgical treatment is cannulated screw internal fixation.However,post-surgical femoral neck shortening occurs in some cases,resulting in impaired hip functionality.OBJECTIVE:To investigate the incidence of femoral neck shortening following the use of half-threaded cannulated screws for internal fixation in patients with femoral neck fractures,to analyze the effect on hip function,and to identify factors contributing to neck shortening.METHODS:A retrospective analysis was conducted on the medical records of 102 patients treated with half-threaded cannulated screws in an inverted triangle setup for femoral neck fractures at Affiliated Hai'an Hospital of Nantong University from January 2016 to January 2021.This group included 36 males and 66 females at the mean age of(57.2±7.7)years,with 34 cases of Garden type Ⅰ and Ⅱ fractures and 68 of Garden type Ⅲ and Ⅳ fractures.The mean bone mineral density value T was-2.8 SD.The Harris score was used to evaluate the hip function.During the follow-up period,the occurrence of femoral neck shortening was determined using X-ray imagery,and the factors influencing this shortening were examined using both univariate and multivariate regression analyses.RESULTS AND CONCLUSION:(1)Among the 102 patients with femoral neck fractures,30 patients developed femoral neck shortening,accounting for 29.4％.72 patients had no femoral neck shortening(70.6％).(2)The Harris score for patients experiencing neck shortening was significantly lower than that for patients without shortening(P＜0.05).(3)The study identified several factors associated with femoral neck shortening following the internal fixation of femoral neck fractures included age,gender,bone mineral density value T,preoperative Garden classification,and quality of reduction.These factors not only affect the shortening of the femoral neck after surgery,but are also directly related to the functional performance of the patient's hip joint.(4)Femoral neck shortening after surgery for femoral neck fracture is associated with various clinical parameters,especially the patient's age,gender,bone mineral density,preoperative classification,and accuracy of reduction during surgery.

Objective To investigate the impact of red blood cell suspension infusion across various perioperative periods on patients with valvular heart disease. Methods The patients with valvular heart disease admitted to Tianjin Chest Hospital from 2018 to 2020 were selected. Based on the timing of perioperative red cell suspension infusion, patients were categorized into three groups: a group 1 receiving intraoperative red cell suspension infusion, a group 2 receiving red cell suspension infusion within 24 hours after entering the ICU, and a group 3 receiving red cell suspension infusion at both time points. The laboratory results, perioperative blood component infusion volume, and other relevant parameters were retrospectively analyzed. After propensity score matching, the differences in different variables among the three groups were compared. Results After propensity score matching, 102 patients were enrolled, including 52 males and 50 females, with an average age of (61.74±10.58) years. There were 34 patients in each group. The preoperative hemoglobin (Hb) value of the group 2 was significantly higher than that of the group 1 and the group 3, and the amount of red cell suspension and autoblood transfusion was the lowest (P<0.05). Group 1 had the highest postoperative Hb, as well as the highest Hb and hematocrit (HCT) levels within 24 hours post-surgery (P<0.05). The group 1 had the lowest plasma, platelet and cryoprecipitate infusion volumes, and the shortest cardiopulmonary bypass time, aortic occlusion time, postoperative ICU stay and hospital stay, and the least blood loss and total drainage volume (P<0.05). The difference between postoperative and preoperative Hb (△Hb1) was highest in group 1 (P<0.05). Conclusion For patients with valvular heart disease, intraoperative-only infusion of red blood cell suspension is associated with a better prognosis at discharge and during follow-up.

Objective·To establish a research framework for serotonylation of proteins and to provide a methodological basis for the identification of serotonylated proteins.Methods·The Cancer Genome Atlas(TCGA)and Genotype-Tissue Expression(GTEx)databases were used to analyze the expression of the transglutaminase 2(TGM2)gene,which encodes the key enzyme for serotonylation,and the solute carrier family 6(SLC6A4)gene,which encodes the serotonin transporter(SERT),in normal and pan-cancer tissues.5-Propargyltryptamide(5-PT),a serotonin derivative,was synthesized stepwise from serotonin hydrochloride,and its structure was characterized by the Fourier transform infrared spectroscopy(FT-IR),proton nuclear magnetic resonance(1H-NMR),carbon nuclear magnetic resonance(13C-NMR),and time-of-flight mass spectrometry(TOF-MS).The intracellular uptake of 5-PT in the human pancreatic cancer cell line AsPC-1 and mouse immune cells,including CD4+T cells,CD8+T cells,and bone marrow-derived macrophages(BMDMs),was detected by using flow cytometry.Click chemistry,co-immunoprecipitation,and mass spectrometry analysis techniques were employed to identify serotonylated proteins,and Kyoto Encyclopedia of Genes and Genomes(KEGG)enrichment analysis was performed.Results·Bioinformatics analysis indicated that TGM2 and SLC6A4 were widely expressed in various normal tissues and across pan-cancer tissues.The flow cytometry results showed that the synthesized 5-PT can be taken up into the human pancreatic cancer cell line AsPC-1 and mouse immune cells,including CD4+T cells,CD8+T cells,and BMDMs,via the SERT.Mass spectrometry analysis data showed that a significant amount of serotonylated proteins were enriched in various cells treated with 5-PT.KEGG enrichment analysis revealed that these proteins were involved in important pathways related to glycolysis and amino acid synthesis.Conclusion·By using the synthesized 5-PT,multiple serotonylated proteins are enriched in various cell types.A research system for identifying serotonylated proteins has been successfully established,providing a relatively simple and efficient method for studying protein serotonylation.

Objective:To investigate the effects of remifentanil and fentanyl combined with propofol intravenous anesthesia on hemodynamics and quality of anesthesia recovery in children undergoing laparoscopic surgery for oblique inguinal hernia.Methods:A total of 98 children with oblique inguinal hernia admitted to the Urumqi First People′s Hospital from January 2022 to January 2023 were selected as the study objects, and randomly divided into control group and observation group with 49 cases in each group according to the 1∶1 ratio number list method. The control group received fentanyl+ propofol anesthesia, and the observation group received remifentanil+ propofol anesthesia. The hemodynamics, quality of anesthesia recovery, stress response indexes and adverse reactions were compared at different time points between the two groups.Results:The recovery time and extubation time of the observation group were shorter than those of the control group ( P<0.05). There was no significant difference in Steward and 15-item Recovery Quality Scale (QoR-15) scores between the two groups (all P>0.05). The scores of Steward, QoR-15 and revised Wang Baker Facial Expression Pain Assessment Scale (FPSR) in both groups were higher than those in the recovery room and 24 h after surgery, and the scores of Steward and QoR-15 in the observation group were higher than those in the control group at the recovery room and 24 h after surgery ( P<0.05). The FPSR scores of the observation group were lower than those of the control group at the time of recovery, exit from the recovery room and 24 h after operation (all P<0.05). There was no significant difference in mean arterial pressure and heart rate between the two groups at T 1 ( P>0.05). Compared with T 1, the mean arterial pressure and heart rate of T 2, T 3 and T 4 in both groups showed significant fluctuations (all P<0.05). Compared with the control group, the mean arterial pressure and heart rate of T 2, T 3 and T 4 in the observation group were significantly smaller (all P<0.05). There was no significant difference in T 1 stress response between the two groups (all P>0.05). The levels of epinephrine (E), C-reactive protein (CRP) and cortisol (Cor) in serum at T 2, T 3 and T 4 were higher than those at T 1 (all P<0.05). The levels of E, CRP and Cor in serum at T 2, T 3 and T 4 in the observation group were significantly lower than those in the control group (all P<0.05). The incidence of adverse reactions in the observation group was lower than that in the control group, and the difference was statistically significant (χ 2=4.159, P<0.05). Conclusions:Intravenous anesthesia with remifentanil combined with propofol can reduce the effect on hemodynamics, improve the quality of anesthesia recovery and alleviate the stress response of the body in children with laparoscopic oblique inguinal hernia.

Objective:To investigate the effects of cholinergic receptor nicotinic alpha 5 subunit(CHRNA5)on the invasion and proliferation of pancreatic ductal adenocarcinoma(PDAC)using bioinformatics approaches and cellular experiments,and to analyze its regulatory pathways and provide foundation for the identification of novel therapeutic targets for pancreatic cancer.Methods:Transcriptome,gene variation,and clinical data of pan-tumor and normal tissues were downloaded from public databases including The Cancer Genome Atlas(TCGA)and Genotype-Tissue Expression(GTEx).The expression levels of CHRNA5 mRNA between pan-tumor patients and healthy individuals were compared using Wilcoxon test.The expression levels of CHRNA5 mRNA between PDAC and para-cancer tissues were further compared using datasets from the Gene Expression Omnibus(GEO)database.The data were divided into three groups according to the different expression levels of CHRNA5 mRNA using tertile method:CHRNA5 high expression group,CHRNA5 medium expression group,and CHRNA5 low expression group.Survival analysis was performed in CHRNA5 high expression and low expression groups to assess the impact of CHRNA5 in prognosis of pancreas cancer.Real-time fluorescence quantitative PCR(RT-qPCR)and immunohistochemistry methods were used to detect the expressions of CHRNA5 mRNA and protein in tumor tissue,paracancer tissue,tumor cells and normal cells.Differential analysis of the transcriptome data and enrichment analysis of Hallmark genes and Reactome pathways were then conducted.Immune cell infiltration analysis was performed on PDAC based on transcriptome data.Tumor mutation burden(TMB)analysis,single nucleotide variation(SNV),and copy number variation(CNV)analysis were also conducted.The small interfering RNA(si)-NC and si-CHRNA5 were transfected into the MIA PaCa-2 and Capan-2 cells,and the samples were divided into NC,siRNA-1 and siRNA-2 groups according to the transfected siRNA.The proliferation activities of the cells in various groups under acetylcholine(Ach)and non-ACh conditions were detected using cell counting kit-8(CCK-8)method,and the expression of c-Myc protein in the cells in various groups were detected using Western blotting method.Results:Compared with normal tissue,the expression levels of CHRNA5 mRNA were elevated in 28 types of tumor tissues,including pancreatic cancer(adjusted P<0.05).The results of RT-qPCR and immunohistochemistry revealed that CHRNA5 was highly expressed in tumor tissue and pancreatic ductal adenocarcinoma(PDAC)cells compared with paracancer tissue and normal pancreatic ductal cells.The survival analysis showed that the PDAC patients with high expression of CHRNA5 had worse prognosis compared with those with low expression of CHRNA5.A total of 994 differentially expressed genes(DEGs)were identified between PDAC and control samples,with 381 up-regulated genes and 613 down-regulated genes.The gene Set Enrichment Analysis(GSEA)results indicated that CHRNA5 was highly associated with oxidative phosphorylation,cell proliferation,immune infiltration,and cell cycle.The immune analysis results showed that the samples with high expression of CHRNA5 had poorer immune infiltration compared with those with low expression of CHRNA5.Compared with CHRNA5 low expression group,the mutation rates of pancreatic cancer progression-related genes KRAS,TP53,and SMAD4 in CHRNA5 high expression group were increased.In cell experiments,compared with NC+Ach group,the proliferation activities of the cells in siRNA-1+Ach group and siRNA-2+Ach group were significantly decreased(P<0.05).The results of Western blotting revealed that the expression amounts of c-Myc protein in siRNA-1 and siRNA-2 groups were significantly lower than those in NC group.Conclusion:CHRNA5 modulates the cell cycle via myelocytomatosis viral oncogene(MYC)family,thereby influencing the proliferation of pancreas cancer cells and promoting the progression of PDAC,suggesting that CHRNA5 is a potential therapeutic target for pancreas cancer.

Objective To investigate the clinical application of ceftazidime/avibactam(CAZ/AVI)in lung trans-plant recipients with pulmonary infection caused by carbapenem-resistant Gram-negative bacilli(CRGNB),and ana-lyze the factors affecting the prognosis.Methods Lung transplant recipients who had CRGNB pulmonary infection and were treated with CAZ/AVI were included in the analysis.Based on 14-day clinical response,14-day microbial response,and 30-day survival status,the recipients were divided into a clinical response group and a clinical failure group,a microbial response group and a microbial failure group,as well as a survival group and a death group,re-spectively.Univariate analysis was conducted on various data from the two groups.Factors affecting therapeutic ef-ficacy and survival were included in a binary logistic regression model.Independent risk factors for CAZ/AVI anti-infective efficacy and all-cause mortality outcomes were analyzed.Results A total of 43 recipients were included.After 14-day anti-infective treatment,32 recipients(74.42％)achieved clinical response,and 30 recipients(69.77％)achieved microbial response.34 recipients(79.07％)survived 30 days after CAZ/AVI treatment.The Charlson comorbidity index(CCI),proportion of renal dysfunction,and incidence of shock in recipients in the clini-cal response group were all lower than those in the clinical failure group(P＜0.05),while the serum albumin(ALB)level was higher(P＜0.05).The incidence of shock in recipients in the microbial response group was lower than that in the microbial failure group(P＜0.05).CCI,proportion of renal dysfunction,and incidence of shock in recipients in the survival group were all lower than those in the death group(all P＜0.05),while ALB level was higher during treatment period(P＜0.05).Multivariate analysis of 14-day clinical response and 30-day survival showed that higher CCI was an independent risk factor affecting 14-day clinical response of recipients(OR=2.22,95％CI:1.07-4.63),while lower ALB levels(OR=0.72,95％CI:0.54-0.98)and higher CCI(OR=5.27,95％CI:1.18-23.58)were independent risk factors for 30-day all-cause mortality in recipients with pulmonary in-fection after lung transplant.Conclusion CAZ/AVI may be an effective drug for treating pulmonary infection caused by CRGNB in lung transplant recipients.Higher CCI is an independent risk factor for 14-day clinical failure in recipients after CAZ/AVI treatment.Lower ALB level and higher CCI are independent risk factors for increased 30-day mortality in recipients.