Objective::To report a fetus with ARCN1-related syndrome caused by a novel de novo heterozygous variant, highlighting the importance of early genetic diagnosis in prenatal care. Methods::The clinical and genetic data of a fetus with a complex combination of clinical signs and a novel de novo heterozygous variant were collected and have been summarized in this study. The potential pathogenic variant was identified throughout the whole exome sequencing and the effects of candidate variants were further validated by a minigene splicing assay. Results::Prenatal systematic ultrasound detected fetal growth restriction. Genetic analysis identified a novel de novo heterozygous variant within the ARCN1 gene—c.1241 +5G>A-located in intron 8. In vitro minigene splicing assays demonstrated that the variant led to two abnormal transcripts. The longer transcript retained 189 base pairs of intron 8, resulting in a truncated protein of 414 amino acids (p.Ser415*). The shorter transcript involved exon 8 skippings, producing a truncated protein of 407 amino acids (p.Ile378Serfs*31). Conclusion::A novel de novo heterozygous variant of the ARCN1 gene, namely NM_001655.5: c.1241 +5G>A, was discovered and identified in a fetus with rhizomelic short stature, microretrognathia, and developmental delays.

Objective::To evaluate the diagnostic efficacy and clinical application of the Obstetrical Chinese Disseminated Intravascular Coagulation (DIC) Scoring System (OCDSS).Methods::This study is a retrospective study that collected 1063 cases from Wuhan Union Hospital, Yichang Central People’s Hospital, and the Central Hospital of Enshi Tujia and Miao Autonomous Prefecture between July 2017 and June 2024. These cases were divided into DIC and non-DIC groups based on score standard. Diagnosis of DIC, the rate of hysterectomy, neonatal mortality, and severe asphyxia are the main outcome measures. All the laboratory indicators are all determined by clinical laboratory department of the hospital. Data were expressed as mean ± standard deviation or median (interquartile range) and frequencies. Independent sample t-test or non-parametric test were used to compare measurement data, while the chi-square test was used for count data. Receiver operating characteristic (ROC) curve and area under curve (AUC) were used to test the predictive accuracy. Using univariate and multivariate logistic regression analysis to study the high-risk factors. P < 0.050 indicates a statistical significance. Results::Of 1063 participants in this study, 29 participants (2.73%) were diagnosed with obstetrical DIC by OCDSS score standard, and all the participants were diagnosed as DIC with underlying disease. When the Takao, Clark, and Erez score standard is the "gold standard", the OCDSS score standard always shows good sensitivity and specificity, with all the AUC over 0.75. OCDSS score standard also has better predictive of hysterectomy (68.18%, 91.07%, 0.872), severe neonatal asphyxia and death (79.17%, 75.07%, 0.842) than the other three score standards. All the indicators included in the OCDSS score standard contributed to the DIC diagnosis (all the P < 0.001). The indicators in the DIC group were more abnormal than the non-DIC group (all the P < 0.001). Conclusion::OCDSS is a first score standard, especially for pregnancies, it considers the underlying disease, clinical symptoms, and laboratory results. This score system shared a good diagnosis performance for DIC in the Chinese population and may help clinicians make timely decisions.

BACKGROUND:The incidence of inflammatory bowel disease has been steadily rising,accompanied by a lack of definitive therapeutic strategies.Recent research endeavors have illuminated the promising potential of mesenchymal stem cells in mitigating the symptoms of inflammatory bowel disease,offering a glimmer of hope for afflicted patients.OBJECTIVE:To review the mechanisms of action of mesenchymal stem cells derived from various sources in the management of inflammatory bowel disease,aiming to provide insights for future research endeavors.METHODS:Utilizing the keywords"mesenchymal stem cells,MSCs,exosomes,extracellular vesicles,EVs,inflammatory bowel disease,IBD,ulcerative colitis,UC,Crohn's disease,CD"in English and their Chinese equivalents in CNKI and PubMed databases,a total of 89 eligible articles were selected for this review.RESULTS AND CONCLUSION:Currently,six types of mesenchymal stem cells are being explored for inflammatory bowel disease therapy:bone marrow-derived mesenchymal stem cells,adipose tissue-derived mesenchymal stem cells,perinatal tissue-derived mesenchymal stem cells,induced pluripotent stem cell-derived mesenchymal stem cells,embryonic stem cell-derived mesenchymal stem cells,and gingival mesenchymal stem cells.Five administration routes have been adopted,with intravenous and intraperitoneal injections being the most prevalent,followed by local,mesenteric,and intra rectal injections.Their therapeutic mechanisms encompass differentiation,regeneration,anti-inflammatory effects,immune modulation,neuroprotection,antioxidant stress response,homing,modulation of gut microbiota,autophagy,ferroptosis,and endoplasmic reticulum stress.While sharing functional similarities,mesenchymal stem cells from different sources exhibit unique characteristics that confer them with distinct advantages and therapeutic potentials.Nevertheless,research into the specific properties of these mesenchymal stem cells remains limited,necessitating deeper exploration of their nuanced differences to optimize their therapeutic efficacy in inflammatory bowel disease.Additionally,the clinical safety of mesenchymal stem cells-based therapies warrants further observation and evaluation.

Precise preoperative assessment of cervical cancer facilitates personalized treatment and reduces the burden of retreatment.In recent years,various quantitative techniques of relaxation time,including T1 mapping,T2 mapping,T2*mapping,blood oxygenation level dependent MRI,synthetic MRI and MR fingerprinting,had demonstrated certain progresses,providing novel approaches for non-invasive evaluation of cervical cancer.The research progresses in quantitative MR relaxation time techniques of cervical cancer were reviewed in this article.

Objective:To investigate the factors influencing recurrence and metastasis and prognosis of early breast cancer patients after surgery and the significance of all-foci radiotherapy after recurrence and metastasis.Methods:A retrospective cohort study was conducted. A total of 554 patients with stage T 1-2N 0M 0 breast cancer after surgery who were admitted to Weihai Municipal Hospital, Cheeloo College of Medicine, Shandong University from January 2006 to January 2019 were collected. The clinicopathological features were compared between patients with and without recurrence and metastasis after surgery. Kaplan-Meier method was used to analyze the overall survival (OS) and disease-free survival (DFS) of patients. The univariate analysis of prognostic factors was conducted using log rank test, while the multivariate analysis was conducted using Cox proportional hazards model. Patients with recurrence and metastasis are grouped according to whether the recurrence and metastasis lesions had received radiotherapy, patients with radiotherapy for all recurrence and metastasis lesions were classified as the all-foci radiotherapy group, patients with radiotherapy for partial recurrence and metastasis lesions were classified as non-all-foci radiotherapy group, and patients without radiotherapy for all recurrence and metastasis lesions were classified as non-radiotherapy group. The OS and progression free survival (PFS) were compared between groups. Results:The 554 patients were (49±10) years old, including 56 patients (10.1%) with recurrence and metastasis after surgery. There were statistically significant differences in menopausal status, pathological type, differentiation degree, estrogen receptor or progesterone receptor expression, pathological stage, postoperative adjuvant chemotherapy, postoperative adjuvant radiotherapy, and postoperative adjuvant endocrine therapy (all P < 0.05). The 5-year OS and DFS were 96.9% and 95.9%, respectively. The multivariate Cox regression analysis showed that the high differentiation ( HR = 0.300, P = 0.011), no postoperative adjuvant radiotherapy ( HR = 0.097, P < 0.001) and no postoperative endocrine therapy ( HR = 0.421, P = 0.040) were independent risk factors for DFS. The high differentiation ( HR = 0.266, P = 0.003) and no postoperative adjuvant radiotherapy ( HR = 0.225, P = 0.003) were independent risk factors for OS. OS in all-foci radiotherapy group was better than that in non-all-foci radiotherapy group, and the difference was statistically significant ( χ2 = 6.73, P = 0.010), but there was no significant difference in PFS between the two groups ( χ2 = 3.51, P = 0.061). There was no statistically significant difference in OS and PFS between the all-foci radiotherapy group and the non-radiotherapy group (both P > 0.05). Conclusions:Menopausal status, pathological classification, differentiation degree, estrogen receptor or progesterone receptor expression, pathological stage, postoperative adjuvant chemotherapy, postoperative adjuvant radiotherapy, and postoperative adjuvant endocrine therapy may affect the occurrence of postoperative recurrence and metastasis in stage T 1-2N 0M 0 breast cancer patients after surgery. The prognosis of stage T 1-2N 0M 0 breast cancer patient with high differentiation, no postoperative adjuvant radiotherapy and no postoperative endocrine therapy is poor. The OS of early breast cancer patients with recurrence and metastasis may be prolonged by all-foci radiotherapy compared with non-all-foci radiotherapy.

A long-acting feline ω-interferon fusion protein(FSA-FeIFNω)was designed and its bio-logical function validated.According to the optimization of the sequence of feline serum albumin and feline ω interferon in NCBI,the recombinant plasmid pET-30a(+)-FSA-FeIFNω was con-structed,which was transformed into E.coli BL21(DE3)competent cells,the expression of re-combinant protein FSA-FeIFNω was induced by IPTG,and the expressed inclusion body protein was identified by Western blot,the refolding product was purified by Ni-NTA affinity chromatog-raphy,and the concentration of dialysis and concentrated protein after purification was determined by BCA method.The antiviral activity of recombinant protein was detected by micro-cytopathic in-hibition method in the CRFK/VSV system,the in vitro half-life was detected by 50％mouse plas-ma method,the tumor cell proliferation inhibition activity was detected by MTT method,and anti-tumor activity was detected by mouse melanoma model.The pET-30a(+)-FeIFNω and pET-30a(+)-FSA-FeIFNω expression vectors were successfully constructed,and 87 kDa recombinant FSA-FeIFNω protein was obtained in E.coli,with a purified protein purity of 95％,with a concen-tration of 1 g/L,and the biological activity was 2.56 × 106 IU/mg,the plasma half-life was significantly prolonged(＞24 h),and the half-inhibitory concentration IC50 of B16-F10 in mouse melanoma cells was 56.01 mg/L.The FSA-FeIFNω group significantly inhibited tumor growth,and the treatment effect was better than that of the control group and other experimental groups.The recombinant FSA-FeIFNω protein obtained in this study had long-acting effect and good biological activity.

Hemodynamic monitoring can reflect cardiac function and blood perfusion and is an indispensable monitoring method in clinical practice. Invasive hemodynamic monitoring methods represented by the thermodilution method are limited in their clinical application scope because they require vascular cannulation. Non-invasive hemodynamic monitoring has attracted extensive attention from medical companies and clinicians at home and abroad in recent years due to its advantages such as safety, non-invasiveness, continuous monitoring, simple operation, and low cost. This paper designs a non-invasive hemodynamic monitoring system based on the impedance cardiography, including hardware, algorithm, software design, and performance parameter evaluation. Among them, the hardware part mainly includes a differential high-frequency constant current source stimulation circuit, impedance cardiogram signal acquisition, and ECG signal acquisition circuit. Signal processing includes wave filtering, impedance cardiogram signal calibration, and ECG signal and impedance cardiogram signal feature point recognition. According to the collected impedance cardiogram and ECG signals, hemodynamic parameters such as heart rate (HR), stroke volume (SV), cardiac output (CO), stroke index (SI), cardiac index (CI), and cardiac contractility index (ICON) are calculated based on the Nyboer thoracic cylinder model. After testing, the key technical indicators of the system hardware are better than that of the relevant medical device standards. The system was used to collect impedance cardiogram and ECG signal data from 40 volunteers. The calculated HR, SV, and CO, three important hemodynamic indicators, were compared with the ICONCore non-invasive cardiac output monitor of OSYPKA Medical in Germany. Their Pearson correlation coefficients were 0.992 ( P<0.001), 0.948 ( P<0.001), and 0.933 ( P<0.001), respectively, verifying that the designed system has high accuracy and reliability.
Cardiography, Impedance/methods* ; Humans ; Hemodynamic Monitoring/methods* ; Equipment Design ; Signal Processing, Computer-Assisted ; Hemodynamics ; Algorithms ; Monitoring, Physiologic/methods* ; Electrocardiography

End-tidal carbon dioxide monitoring is an important means of evaluating human lung function and is widely used in fields such as clinical emergency treatment and cardiopulmonary resuscitation. This paper develops a microstream end-tidal carbon dioxide monitoring system. It adopts an integrated gas circuit design to further reduce the size of the equipment. The system uses the method of calculating the root mean square (RMS) of differential pressure signals to regulate the gas circuit flow, enabling the system to stably operate at a flow state of 30 mL/min. In addition, by simultaneously detecting multiple environmental parameters such as temperature and pressure, the system realizes system state monitoring and gas parameter compensation. The test results show that various indicators of the system meet the requirements of relevant standards, laying a good foundation for subsequent engineering applications.
Carbon Dioxide/analysis* ; Equipment Design ; Monitoring, Physiologic/methods* ; Humans

In order to improve the effect of transcranial electrical stimulation treatment and realize personalized treatment for patients with varying severity levels, this paper designed an integrated four-channel EEG recording multimodal transcranial electrical stimulation system. This system can conduct real-time monitoring on EEG and related characteristic analysis before stimulation, in stimulation, and after stimulation. This enables physicians and researchers to resolve real-time brain states, evaluate transcranial electrical stimulation effect, and then artificially adjust the stimulation parameters. After relevant testing and verification, the system can select four stimulation modes: TACS, TDCS, TPCS and TRNS, which can output the constant stimulation current of 0.03 mA accuracy in the range of ±2 mA and the stimulation frequency of low frequency of 0~4 kHz (precision of 0.01 Hz) and high frequency 50~100 kHz, which can obtain more accurate EEG signals under stimulation interference, demonstrating a good market application prospect.
Electroencephalography/methods* ; Transcranial Direct Current Stimulation/instrumentation* ; Humans ; Equipment Design

This paper introduces a 16-channel multimodal high-precision transcranial electrical stimulation system specifically for non-invasive brain stimulation. This system added TMCS mixed four traditional stimulation modes with TACS, TDCS, TPCS and TRNS. By designing a compensated high-precision constant current source, the constant stimulation current with an accuracy of 0.03 mA in the range of ±2 mA and the stimulation frequency of 50~200 kHz with low frequency of 0~4 kHz (high frequency of 0.1 Hz) are realized. In TACS stimulation mode, there are five adjustable wave forms: triangular wave, sine wave, sawtooth wave, square wave and mixed wave. The system has dual closed-loop control overcurrent detection and simultaneous real-time electrode contact impedance detection. After relevant tests and verification, the system has good stimulation accuracy, high safety and reliability. Compared with the existing products at home and abroad, it features lower cost, richer stimulation mode and waveforms, demonstrating a certain market application value.
Transcranial Direct Current Stimulation/instrumentation* ; Equipment Design ; Humans