ObjectiveTo enhance the genetic diagnostic yield for fetal short femur length （FL） and to evaluate the integration of whole exome sequencing （WES） with chromosomal abnormality detection in prenatal diagnosis. MethodsA total of 27 mid-to-late trimester fetuses diagnosed with short FL ［FL < 5th percentile for gestational age or < -2 SD （Standard Deviation）］ at the Prenatal Diagnosis And Medical Genetics Center，Shenshan Medical Center，Memorial Hospital of Sun Yat-Sen University between November 2023 and May 2025 were included. Amniotic fluid or umbilical cord blood samples were collected and subjected to chromosomal karyotyping （19cases）， chromosomal microarray analysis （CMA） or low-coverage whole genome copy number variation（CNV-Seq） （27 cases）， and trio-based whole exome sequencing （trio-WES） （27 cases）. The pathogenicity of genetic variants were interpreted according to the American College of Medical Genetics and Genomics （ACMG） guidelines. ResultsTwenty-six genomic variants were detected in 17 of the 26 fetuses， including numerical chromosomal abnormalities （mosaic type）， copy number variations （CNVs）， single nucleotide variants （SNVs） and insertions-deletions （INDELs）. Genomic variants detected in 11 cases could explain the short femur phenotype.The overall diagnostic rate was 11/27， with pathogenic/likely pathogenic variants explaining 9 cases and variants of uncertain significance （VUS） accounting for 1 cases. In addition Chromosomal karyotype analysis revealed chromosome mosaicism explaining 1 case. The diagnostic rate of CNV detection （CMA/CNV-seq） was 2/27， while WES achieved a diagnostic rate of 10/27， with an incremental yield of 8/27 in cases with negative or inconclusive CNV results. Pathogenic mutations involved genes such as FGFR3， SHOX， DUOX2， CLCN5， and HBA1/HBA2. ConclusionTrio-WES significantly improves the genetic diagnostic rate for fetal short femur length， particularly in cases where chromosomal analysis fails to identify a cause. Karyotyping remains valuable for detecting low-level mosaicism in large-scale chromosomal abnormalities， thereby complementing WES and CNV detection. A stepwise or parallel genetic testing strategy is recommended in prenatal diagnosis to optimize diagnostic efficiency and support clinical decision-making.

Objective:To explore the diagnostic value of fractional flow reserve (FFR) based on optical coherence tomography (OCT) for coronary functional ischemia, and to investigate the feasibility of synchronously obtaining Doppler blood flow velocity information with the help of OCT technology.Methods:This study was a single-center, prospective, self-controlled clinical study on coronary heart disease patients who underwent OCT and FFR assessment at Department of Cardiology, the Second Hospital of Jilin University from January 2024 to February 2025. Linear regression analysis was used to evaluate the correlation and consistency between OCT-FFR and FFR. With FFR≤0.80 as the gold standard for judging whether the target vessel was ischemic, the diagnostic performance of OCT-FFR was evaluated, and the diagnostic value of OCT-FFR for significant coronary artery ischemia was assessed using subject operating characteristic curves. Blood flow OCT data were analyzed by Doppler processing algorithm to obtain information on coronary blood flow velocity.Results:A total of 31 vessels from 28 patients were analyzed, the correlation coefficient r between OCT-FFR and FFR of the 31 vessels was 0.84 ( P<0.001). With FFR as the gold standard to determine whether a coronary artery is ischemic, accuracy, sensitivity, specificity, positive predictive value, and negative predictive value for OCT-FFR was 93.55%, 75.00%, 100.00%, 1.00, 0.92. In clinical practice, Doppler OCT was used for the first time to obtain information on coronary blood flow velocity. Conclusion:OCT-FFR had an excellent correlation and consistency with FFR in judging whether there is coronary artery ischemia. The feasibility of the simultaneous acquisition of OCT-FFR and Doppler flow velocity information in coronary stenosis was preliminarily verified.

Objective:To explore the diagnostic value of fractional flow reserve (FFR) based on optical coherence tomography (OCT) for coronary functional ischemia, and to investigate the feasibility of synchronously obtaining Doppler blood flow velocity information with the help of OCT technology.Methods:This study was a single-center, prospective, self-controlled clinical study on coronary heart disease patients who underwent OCT and FFR assessment at Department of Cardiology, the Second Hospital of Jilin University from January 2024 to February 2025. Linear regression analysis was used to evaluate the correlation and consistency between OCT-FFR and FFR. With FFR≤0.80 as the gold standard for judging whether the target vessel was ischemic, the diagnostic performance of OCT-FFR was evaluated, and the diagnostic value of OCT-FFR for significant coronary artery ischemia was assessed using subject operating characteristic curves. Blood flow OCT data were analyzed by Doppler processing algorithm to obtain information on coronary blood flow velocity.Results:A total of 31 vessels from 28 patients were analyzed, the correlation coefficient r between OCT-FFR and FFR of the 31 vessels was 0.84 ( P<0.001). With FFR as the gold standard to determine whether a coronary artery is ischemic, accuracy, sensitivity, specificity, positive predictive value, and negative predictive value for OCT-FFR was 93.55%, 75.00%, 100.00%, 1.00, 0.92. In clinical practice, Doppler OCT was used for the first time to obtain information on coronary blood flow velocity. Conclusion:OCT-FFR had an excellent correlation and consistency with FFR in judging whether there is coronary artery ischemia. The feasibility of the simultaneous acquisition of OCT-FFR and Doppler flow velocity information in coronary stenosis was preliminarily verified.

Objective To design an intelligent and healthy light environment scheme in intensive care unit(ICU)from the experience perspective of nurses,and evaluate its effect on improving nurses'visual perception and work efficiency.Methods According to the Standard for Lighting Design of Buildings(GB50034-2013),reconstruction was performed from the 3 aspects of basic layout,intelligent lighting,and simulated natural light.Then,the usage experience of nurses was investigated via semi-structured interview.By combining the interview results with illuminance and color temperature,the changing curve of light effect was described to finally determine the optimal strategy and form the healthy light environment.Thirty nurses in emergency ICU(EICU)of The First Hospital of Jiaxing before the application of intelligent and healthy light environment from July to October 2023 were selected as the control group,and 30 nurses after the application of intelligent and healthy light environment from January to March 2024 were selected as the observation group.The visual fatigue score of nurses,the completion time of single venipuncture,the occurrence rate of risk events,and the difference in satisfaction of light environment in ICU were compared before and after the establishment of intelligent and healthy light environment.Results After being on duty,the visual fatigue score of nurses in both groups obviously increased,but the scores in the observation group was significantly lower compared to the control group(14.77±2.99 vs.38.43±4.67,P<0.05).Additionly,the completion time of single venipuncture in the observation group was evidently shorter than that in the control group(minutes:4.93±1.82 vs.14.87±2.50,P<0.05),the occurrence rate of risk events in the observation group was remarkably lower than that in the control group[3.33%(1/30)vs.20.00%(6/30),P<0.05],and the satisfaction of light environment in the observation group was distinctly higher than that in the control group[93.33%(28/30)vs.66.67%(20/30),P<0.05].Conclusions Aiming at the special work scenario in ICU,this paper designed intelligent scene lighting and created a bright,comfortable,safe,and healthy light environment,which could effectively relieve nurses'visual fatigue,improve the efficiency and quality of nursing work,and enhance their clinical work experience.Additionally,it provided data support and design strategies for the sound environmental development of ICU.

Objective To design an intelligent and healthy light environment scheme in intensive care unit(ICU)from the experience perspective of nurses,and evaluate its effect on improving nurses'visual perception and work efficiency.Methods According to the Standard for Lighting Design of Buildings(GB50034-2013),reconstruction was performed from the 3 aspects of basic layout,intelligent lighting,and simulated natural light.Then,the usage experience of nurses was investigated via semi-structured interview.By combining the interview results with illuminance and color temperature,the changing curve of light effect was described to finally determine the optimal strategy and form the healthy light environment.Thirty nurses in emergency ICU(EICU)of The First Hospital of Jiaxing before the application of intelligent and healthy light environment from July to October 2023 were selected as the control group,and 30 nurses after the application of intelligent and healthy light environment from January to March 2024 were selected as the observation group.The visual fatigue score of nurses,the completion time of single venipuncture,the occurrence rate of risk events,and the difference in satisfaction of light environment in ICU were compared before and after the establishment of intelligent and healthy light environment.Results After being on duty,the visual fatigue score of nurses in both groups obviously increased,but the scores in the observation group was significantly lower compared to the control group(14.77±2.99 vs.38.43±4.67,P<0.05).Additionly,the completion time of single venipuncture in the observation group was evidently shorter than that in the control group(minutes:4.93±1.82 vs.14.87±2.50,P<0.05),the occurrence rate of risk events in the observation group was remarkably lower than that in the control group[3.33%(1/30)vs.20.00%(6/30),P<0.05],and the satisfaction of light environment in the observation group was distinctly higher than that in the control group[93.33%(28/30)vs.66.67%(20/30),P<0.05].Conclusions Aiming at the special work scenario in ICU,this paper designed intelligent scene lighting and created a bright,comfortable,safe,and healthy light environment,which could effectively relieve nurses'visual fatigue,improve the efficiency and quality of nursing work,and enhance their clinical work experience.Additionally,it provided data support and design strategies for the sound environmental development of ICU.

Objective:To explore the clinical value of metagenomics next-generation sequencing (mNGS) in the diagnosis of urinary calculi with secondary infection.Methods:From September 2021 to May 2022, a total of 110 urinary calculi patients from the First People′s Hospital of Zhejiang Province Tonglu County were collected retrospectively, the urine sample of the patients with bacterial meningitis was measured by urine bacterial culture and mNGS respectively. Taking urine bacterial culture as the "gold standard", the sensitivity, specificity, positive predictive value, negative predictive value, and Kappa consistency of mNGS in the diagnosing of urinary calculi with secondary infection were analyzed. Results:The positive of urine bacterial culture were 35 cases and negative were 75 cases; while positive and negative were 39 cases and 71 cases in the mNGS detection. Taking urinary bacterial culture as the "gold standard", the specificity, sensitivity, positive predictive value, negative predictive value and Kappa consistency coefficient of mNGS in the diagnosis of secondary infection of urinary calculi were 89.3%, 88.6%, 79.5%, 94.4% and 0.756 respectively. Compared with urine bacterial culture, the Kappa consistency coefficients of three common pathogens detected by the mNGS of macrogenomics, included escherichia coli, klebsiella pneumoniae and enterococcus faecalis were 0.703, 0.735 and 0.769, respectively. Conclusions:mNGS can improve the detection rate of pathogens of secondary infection of urinary calculi, and has a high consistency with the detection results of urinary bacterial culture.

In clinical application, a microneedle system that continuously delivers drugs is of great value for the delivery of some vaccines and hormone drugs. In this study, a controlled-release chitosan-based microneedle array (PVA/CS-MN) was designed, combining microneedle patches with drugs for controlled-release of drugs. Here we report the optimization of the preparation process of PVA/CS-MN. The appearance, morphology, mechanical properties, dissolution and swelling properties, and in vitro penetration properties of the MN arrays were characterized. The PVA/CS-MN prepared by the optimal process showed good morphology and mechanical properties. PVA/CS-MN can smoothly open microchannels on the skin and achieve controllable dissolution and swelling functions. Ascorbic acid (l-ascorbic acid) was used as a model drug to prepare a Vc-PVA/CS-MN. In vitro transdermal diffusion experiments showed that the Vc-PVA/CS-MN released about 57% of the drug within 1 h. About 66.7% of the drug was slowly released within 12 h, and a total of 92% of the drug was released after 7 days. The controllable sustained-release properties and excellent drug delivery efficiency of PVA/CS-MN provide a new option for sustained transdermal drug delivery.
Ascorbic Acid ; Chitosan ; Delayed-Action Preparations ; Drug Delivery Systems ; Hormones ; Vaccines

Long non-coding RNAs (lncRNAs) are a kind of transcripts which are longer than 200nt and have not protein-coding ability due to the lack of an open reading frame. However, lncRNAs can be involved in tumorigenesis and progression in various ways at the transcriptional and post-transcriptional levels. Bladder cancer associated transcript 1 (BLACAT1) as a lncRNA located on human chromosome 1q32.1, is ectopic expression in various tumors (bladder cancer, gastric malignant tumor, lung carcinoma, et al) and can regulate tumor cell proliferation, anti-apoptosis, invasion and metastasis by different mechanisms leading to occurrence and development of tumors. In this review, we summarized current studies of the functions and mechanisms of BLACAT1 in malignant tumors.

OBJECTIVETo compare the efficacy of percutaneous atrial septal defect (ASD) closure guided by transesophageal echocardiography (TEE) or guided by fluoroscopy in pediatric patients.

METHODSMedical records of patients who underwent percutaneous ASD closure in the Children's Hospital, Zhejiang University School of Medicine from January 2017 to March 2018 were reviewed. There were 120 patients whose procedures were guided by TEE (TEE group), and 125 patients who had their procedures guided by fluoroscopy (fluoroscopy group). The performance of surgery, efficacy and postoperative complications were compared between two groups.

RESULTSPercutaneous ASD closure was successful in all patients. The operation time was shorter in the TEE group than that in fluoroscopy group[(20±14) min vs. (29±11) min, =-7.939, <0.05]. The size of the defect was larger in the TEE group than that of fluoroscopy group[(11±4) mm vs. (9±4) mm, =2.512, <0.05], but there was no significant difference in the sizes of occluder and occluder sheath between two groups (all >0.05). No residual shunt, occluder shedding or displacement, severe arrhythmia or pericardial effusion were observed in either group. The incidence rates of fever, cough and diarrhea were not statistically different between two groups (all >0.05).

CONCLUSIONSThere was no significant difference in the outcome of percutaneous ASD closure guided by TEE or by fluoroscopy, but the procedure guided by TEE may reduce the operation time and can evaluate the size of ASD more accurately without involving radiation exposure, contrast agents use and large digital subtraction equipment.

Objective To study the protective effect of pyrrolidine dithiocarbamate (PDTC) on acute irradiated mice.Methods The 6-8 weeks old male ICR mice were randomly divided into five groups:irradiation alone group (IR),positive control group (amifostine WR-2721 250 mg/kg) and PDTC of 30,60 and 90 mg/kg dose groups.Each group had 10 mice and the drug was given at 0.5 h before whole body irradiation.At 30 d post-irradiation of 7.5 Gy 137 Cs γrays,the mice survival were observed.At 8 d post-irradiation of 5.0 Gy 137 Cs γ-rays,the peripheral blood,hematopoietic system and organ indexes were observed to evaluate the radiation protective effect of PDTC.Results PDTC increased the 30-day survival rates and 60 mg/kg dose had the most obvious effect by increase the survival to 60％ (6/10).The survivals of irradiation alone group and the amifostine positive control group was 10％ (1/10) and 70％ (7/10),respectively.Compared with the irradiation alone group,60 mg/kg PDTC group had the significant difference in spleen index,WBC,HGB,PLT,bone marrow nucleated cells and colony forming unit of spleen (t =2.354,4.793,2.342,6.542,2.649,3.982,P ＜ 0.05).Conclusions PDTC is effective in radiation protection with an optimum dose of 60 mg/kg.