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

OBJECTIVE: To carry out genetic testing on two fetuses with prenatal ultrasound finding of polydactyly and renal abnormalities to determine the underlying causes. METHODS: Two fetuses with structural abnormalities detected by prenatal ultrasound at Cangzhou People's Hospital in 2021 were selected as the study subjects. Genomic DNA was extracted from the muscle tissue of the abortus and peripheral blood samples from both parents. Whole-exome sequencing (WES) was conducted on the trio to detect the genetic variants. Quantitative PCR was used to validate the exonic deletions. This study has been approved by the Ethics Committee of Cangzhou People's Hospital (Ethics No.K2020-049). RESULTS: Prenatal ultrasound revealed postaxial polydactylies of fingers and toes and slightly enlarged kidneys with increased echogenicity in fetus 1, along with polydactyly of both hands, enlarged kidneys, and enhanced echogenicity of renal parenchyma in fetus 2. Trio-WES analysis revealed that fetus 1 has harbored a pathogenic c.1339G>A variant of the BBS1 gene, along with a heterozygous 426 bp deletion in the 11q13.2 region, which was unreported previously. The deletion has involved exons 10 and 11 of the BBS1 gene. The two variants were inherited from its mother and father, respectively. Fetus 2 was found to harbor a pathogenic c.539G>A variant and a likely pathogenic c.49G>A variant of the BBS10 gene, which were inherited from its mother and father, respectively. The c.49G>A variant has not been documented in databases and the literature. CONCLUSION Two rare fetuses with Bardet-Biedl syndrome have been diagnosed. Above finding has expanded the mutational spectrum of this syndrome and has important implications for genetic counseling for the affected families.
Humans ; Bardet-Biedl Syndrome/diagnostic imaging* ; Female ; Pregnancy ; Fetus/abnormalities* ; Ultrasonography, Prenatal ; Phenotype ; Polydactyly/diagnostic imaging* ; Exome Sequencing ; Adult ; Genetic Testing ; Male ; Prenatal Diagnosis ; Group II Chaperonins/genetics* ; Microtubule-Associated Proteins

Kingella kingae (K. kingae) is a facultative anaerobic gram-negative bacterium that primarily colonizes the oropharynx of infants and young children. The difficulty of isolating this organism using traditional culture methods has led to underreporting, especially in developing countries. Advances in nucleic acid amplification tests, including 16S rRNA PCR and specific PCR for K. kingae, have significantly enhanced detection sensitivity in Western developed countries. K. kingae is now recognized as the leading pathogen in osteoarticular infections (OAIs) among children aged 6-48 months, overtaking Staphylococcus aureus (S. aureus). Children affected by K. kingae OAIs often present with septic arthritis and osteomyelitis, and occasionally with conditions such as pyogenic spondylitis/discitis, pyogenic tenosynovitis, pyogenic sacroiliitis, and chest wall osteoarticular infections. These infections generally exhibit a slow progression, mild to moderate symptoms, and respond well to effective antibiotic therapy, resulting in favorable outcomes. Given the challenges of obtaining joint fluid or purulent samples from young children without anesthesia, some scholars recommend predictive models based on serological results or imaging examinations to identify K. kingae infections. However, these methods have practical limitations. Most K. kingae-related OAIs can be managed non-surgically with intravenous antibiotic therapy. In regions where K. kingae identification is feasible, β-lactam antibiotics are the treatment of choice. Otherwise, empirical therapy should cover both K. kingae and S. aureus, particularly in children aged 6-48 months. In areas with a high prevalence of methicillin-resistant S. aureus, combination therapy with vancomycin may be warranted. Investigating the carriage rate of K. kingae among Chinese children and its detection rate in OAIs could simplify treatment procedures, improve outcomes, and optimize antibiotic use, highlighting its significant clinical importance.

Cell metabolism is one of the basic characteristics of life, and the host metabolic state is closely related to the process and outcome of viral infection. Viruses can use the metabolites in host cells to complete the life cycle. When the virus particles are adsorbed onto the surface of the susceptible cells and enter the cells, a series of biomolecules synthesized by the host cells are involved in the intracellular transport of the virus. Thus, the virus completes its replication cycle and infects more cells. Besides, metabolic reactions and metabolites can regulate the host antiviral responses at various stages of viral infection, thus affecting the outcome of viral infection. Therefore, cell metabolism plays key roles in affecting viral infection and host antiviral responses. In this paper, the effects of cell metabolism on the interaction between viruses and host cells will be described from the six stages of virus replication cycle in vivo.

Objective To construct and identify a patient-derived organoid model,and to investigate the sensitivity of chemotherapy drugs using this model.Methods Pancreatic cancer cells were obtained from the surgical specimens of two female patients with a confirmed diagnosis of pancreatic cancer after tumor tissue digestion,and then the cells were inoculated into a culture dish using matrigel for three-dimensional culture.Paraffin sections were prepared for HE staining and immunohistochemical staining and were compared with the parent tumor tissue to determine whether the histopathological features of the tumor in vivo were preserved.The pancreatic cancer organoids were treated with seven chemotherapy drugs at different concentrations;Cell Titer-Glo?3D reagent was used to measure cell viability,and the results of drug sensitivity were analyzed.Results Two patient-derived pancreatic cancer organoids were successfully constructed,and HE staining and immunohistochemical staining showed that the pancreatic cancer organoids had consistent histopathological features with the tumors of the corresponding patient.Both pancreatic cancer organoids were more sensitive to gemcitabine monotherapy and the combination of oxaliplatin+SN38+fluorouracil,and patient 1 was more sensitive than patient 2.There were individual differences in the response to drugs between the organoids from different patients.Conclusion The pancreatic cancer organoid model successfully constructed in this study can reflect the histological classification of parent pancreatic tumors and can be used for in vitro chemotherapy drug sensitivity test,which is expected to provide a reference for clinical medication.

Objective:To construct a classification management model of medical equipment in public hospitals based on association rules algorithm,and to analyze its application effect in hospital equipment management.Methods:Equipment classification management was performed based on Apriori algorithm(association rule analysis)and K-means algorithm(equipment abnormal information mining)in the association rules algorithm,the classification management model of medical equipment in public hospitals was constructed to mine the abnormal characteristics of equipment status.A total of 244 medical devices in clinical use in Beijing Huilongguan Hospital from 2022 to 2023 were selected.According to the application of the classification management model of medical equipment in public hospitals based on the association rule algorithm,the equipment use period from January to December 2022 was set before the application of the association rule algorithm model,and the equipment use period from January to December 2023 was set to the time after the application of the association rule algorithm model.The scores of equipment classification management,the failure rate of different types of equipment and equipment efficiency score before and after the application of association rule algorithm model were compared.Results:After the application of association rule algorithm model,the average scores of warehousing management,use management,maintenance management and scrap management were(89.65±4.65)points,(90.25±4.36)points,(87.69±3.12)points and(90.36±3.39)points,respectively,which were higher than before the application,the difference was statistically significant(t=17.866,14.671,18.128,19.479,P<0.05).After the application of association rule algorithm model,the number of medical image diagnostic and auxiliary equipment,health monitoring equipment,rehabilitation equipment and intervention and treatment equipment that failed was 2,3,2,and 3,and the failure rates were 3.33%,4.69%,2.86%and 6.00%,respectively,which were lower than those before the application,the difference was statistically significant(x2=5.925,6.117,7.937,5.316,P<0.05).After the application of association rule algorithm model,the average scores of overall utilization efficiency,quality stability efficiency and accurate diagnosis and treatment efficiency of the equipment were(96.39±3.69)points,(94.23±3.06)points and(95.47±4.36)points,respectively,which were higher than those before the application,and the difference was statistically significant(t=16.762,17.919,11.769,P<0.05).Conclusion:The application of the classification management model of medical equipment in public hospitals based on association rules algorithm can realize the classification management of medical equipment in hospitals,improve the operating efficiency and management level of equipment,and reduce the equipment failure rate.

Objective:To understand the current status and its associated factors of dual use of e-cigarettes and cigarettes among adolescents in Shandong Province and explore the reasons for dual use behavior.Methods:A self-administered survey was conducted among 7 999 middle school students who were selected by stratified multi-stage cluster sample method. Data were weighted and analyzed by the SPSS 25.0 complex program.Results:In Shandong Province, the prevalence rates of attempting and current dual use of e-cigarettes and cigarettes among adolescents appeared as 7.7% and 1.3%, respectively. Male, friends smoking, and secondhand smoke exposure in the past 7 days were risk factors for dual use. Compared with cigarette smokers, dual users have no differences in cognition and behavior in quitting smoking ( P>0.05). The main reason for dual users to smoke e-cigarettes was curiosity. Conclusions:Dual use of e-cigarettes and cigarettes is common among adolescents in Shandong Province, and its influencing factors are similar to traditional cigarettes. Dual use is not a transitional stage for smoking cessation. Dual users are more likely to continue smoking in the future, which should be paid attention and concern.

Objective:To explore the association between frailty index (FI) and the risk for cardiovascular disease (CVD) in adults in Inner Mongolia Autonomous Region, and provide new evidence for the prevention of CVD in adults in Inner Mongolia Autonomous Region.Methods:The FI was constructed by using the data from a prospective cohort with a sample size of 25 055 individuals in 6 years of follow-up, and the prevalence of frailty in adults in Inner Mongolia Autonomous Region was described by the FI, and Cox proportional hazard regression model was used to evaluate the association between the FI and the incidence of CVD in adults in Inner Mongolia Autonomous Region.Results:The FI of the study population was 0.24±0.09. The population in the pre-frail (FI: 0.21-0.27) and frail (FI≥0.28) phases had increased risk for CVD compared to non-frail (FI≤0.20) population [pre-frail: hazard ratio ( HR)=1.232, 95% CI: 1.127-1.347; frail phase: HR=1.418, 95% CI:1.299-1.548]. For every 0.10 increase in FI, the risk for cardiovascular disease increased by 20.3% ( HR=1.203,95% CI:1.156-1.252). Conclusions:In this study, we constructed a FI, which can suggest the risk for CVD. As the increase of frailty degree, the risk for CVD increases.

Objective:To explore the mediating role of aging attitude and anxiety in the relationship between self-worth and depression among the elderly.Methods:From July to August 2022, a total of 536 elderly people in Shijiazhuang University for the Elderly were surveyed by the elderly self-worth scale, generalized anxiety disorder-7(GAD-7), attitudes to aging questionnaire(AAQ) and patient health questionnaire(PHQ-9). SPSS 26.0 software was used for descriptive statistics and correlation analysis.AMOS 24.0 was used to construct an intermediation model, and Bootstrap method was used for mediating effect testing.Results:(1)The score of self-worth was 101.00 (92.00, 112.00), the score of aging attitude was 92.00 (83.00, 101.75), the score of anxiety was 2.00(0, 6.00), and the score of depression was 2.00 (0, 5.00). (2)Self-worth was positively correlated with aging attitude ( r=0.67, P<0.01), while negatively correlated with anxiety ( r=-0.45, P<0.01) and depression ( r=-0.48, P<0.01). The aging attitude was negatively correlated with anxiety ( r=-0.41, P<0.01) and depression ( r=-0.41, P<0.01). Anxiety was positively correlated with depression ( r=0.71, P<0.01). (3)The indirect effect of aging attitude between self-worth and depression in the elderly was -0.016, accounting for 19.75% (-0.016/-0.081)of the total indirect effect.The indirect effect of anxiety between self-worth and depression in the elderly was -0.045, accounting for 55.56%(-0.045/-0.081) of the total indirect effect.The chain mediating effect of aging attitude and anxiety between self-worth and depression in the elderly was -0.020, accounting for 24.69%(-0.020/-0.081) of the total indirect effect. Conclusion:Aging attitude and anxiety play a chain mediating role between self-worth and depression in the elderly.

Objective: To identify high risk behaviors and infection related factors among young adult males diagnosed with HIV/AIDS in Shandong Province, to provide evidence for targeted AIDS prevention and control strategies. Methods: By using convient sampling method, an face to face in depth interview on HIV related behaviors was conducted among young adult males newly diagnosed with HIV/AIDS in Shandong Province in July 2021. Results: A total of 31 young adult males diagnosed with HIV/AIDS were interviewed. All were male and infected through homosexuality behavior. Average age was (20.6±1.8) years. Totally 90.3% (28/31) were enrolled in tertiary education at the time of diagnosis. The findings revealed that 93.5% (29/31) of participants got infection due to unprotected homosexual behavior with the temporary partner whose HIV infection status was unknown, and 86.2% (25/29) got in touch with these temporary partner by social software. The awareness rate of knowledge about AIDS among all the participants was 100%, however, 83.9% (26/31) reported occasion condom usage while having homosexual behavior, and 16.1% (5/31) never did. Totally 74.2% (23/31) of the young adult males diagnosed with HIV/AIDS had a history of HIV testing before diagnosis. Conclusion The primary high risk behavior of HIV infection in young adult students are unawareness of HIV infection status for temporary sexual partner and the separation of knowing and doing. A targeted strategy should be developed to control the spread of HIV in young adult students.