OBJECTIVE: To investigate the genetic mechanism for adverse pregnancies due to submicroscopic chromosomal structural variants in two cases, and to provide a precise guidance for preimplantation genetic testing. METHODS: Two families who had visited Chengdu Women's and Children's Central Hospital for reproduction guidance due to recurrent miscarriages, adverse pregnancy history and abnormal genetic testing of the offspring in June and December 2023 were selected as the study subjects. Chromosomal karyotyping and optical genome mapping (OGM) were carried out on peripheral blood samples from the two couples, and preimplantation genetic testing for structural rearrangement (PGT-SR) were performed on the blastocyst trophoblasts. This study was approved by the Medical Ethics Committee of the Hospital (Ethic No.: 2023-23). RESULTS: No abnormality was found on the G-banded karyotyping analysis for both couples. The OGM results revealed that the female partner of couple 1 had a translocation between 4pter-p16.3 (3.99 Mb) and 11pter-p15.4 (2.66 Mb), whilst no abnormality was found in the male partner. Similarly, the male partner of couple 2 had a translocation between 19q13.43-qter (1.90 Mb) and 22q13.31-qter (3.34 Mb). No abnormality was found in the female partner of couple 2. Neither breakpoints nor the adjacent region had involved an OMIM gene, except the formation of a fusion gene ZIM2-AS1-Z82186.1 (Both genes are non-coding, and the fusion gene was deemed as variant of unknown significance). PGT-SR of 11 blastocysts derived from couple 1 revealed that one embryo was suitable for priority transfer, three embryos were suitable for transfer, one embryo was recommended for genetic counselling, and six embryos were unsuitable for the transfer. For couple 2, six blastocysts were tested, of which only one embryo was deemed suitable for transfer. CONCLUSION When genetic testing of offspring indicates copy number variations such as deletions, duplications or mosaicism, the high-resolution OGM technique can be selected to screen parents for submicroscopic chromosomal structural variations. The result can facilitate accurate assessment for the risk of recurrence in offspring, selection of suitable method for reproduction, and identifying targets for PGT.
Humans ; Female ; Pregnancy ; Adult ; Male ; Karyotyping ; Chromosome Aberrations ; Abortion, Habitual/genetics* ; Preimplantation Diagnosis ; Genetic Testing

Objective To analyze Chinese and English publications pertaining to Oncomelania hupensis control from 2005 to 2024, so as to decipher the research status and hotspots of O. hupensis control. Methods Chinese and English publications pertaining to O. hupensis control from 2005 to 2024 were retrieved in the Web of Science Core Collection Database and China National Knowledge Infrastructure. The annual number of publications was analyzed from 2005 to 2024, and the author and institution cooperation networks were mapped using the software CiteSpace 6.3.1. Keywords were extracted from publications to map the co-occurrence, burst and timeline of keywords to identify the research hotspots of O. hupensis control. Results A total of 158 English publications and 771 Chinese publications were included for bibliometric analyses. The overall output of English publications was relatively small from 2005 to 2024, the annual average publication was 7.90 publications. Parasites & Vectors was the most productive journal by the number of publications (21 publications). The three most productive authors included Li Shizhu (24 publications), Zhou Xiaonong (13 publications), and Yang Kun (12 publications), and the three most productive institutions included Chinese Center for Disease Control and Prevention (49 publications), the WHO (27 publications), and Fudan University (25 publications). The annual average number of Chinese publications was high from 2005 to 2015 (57.73 publications), and reduced to 15.11 publications during the period from 2016 to 2024, with Chinese Journal of Schistosomiasis Control as the most productive journal (241 publications). The three most productive authors included Wang Wanxian (18 publications), Sun Qixiang (16 publications), and Dai Jianrong (16 publications), and the three most productive institutions included Jiangsu Institute of Parasitic Diseases (55 publications), Chinese Center for Disease Control and Prevention (47 publications), and Hubei Uni-versity (38 publications). Among the 158 English publications, molluscicidal effect, climate change, geographic information, biological control, machine learning were current research hotspots, and the Yangtze River and elimination were emerging research hotspots. Among the 771 Chinese publications, molluscicidal effect, niclosamide, comprehensive management, molluscicide, effectiveness evaluation, marshland, and endophyte were current research hotspots, and the future research hotspots shifted to molluscicidal effect and pyriclobenzuron. Conclusions Limited attention is paid to the research on O. hupensis control across the world. The Yangtze River, elimination, molluscicidal effect, and pyriclobenzuron may be future research hotspots. High attention is recommended to be paid to the research on O. hupensis control, and development of diverse approaches for O. hupensis control is of urgent needs. We should continue to attach importance to the control research of O. hupensis and strengthen the exploration of diverse snail extermination and control methods.

OBJECTIVE To investigate the effects and mechanism of the Yishen paidu formula on renal fibrosis in rats with chronic renal failure （CRF） through the reactive oxygen species （ROS）/thioredoxin-interacting protein （TXNIP）/NOD-like receptor thermal protein domain associated protein 3 （NLRP3） pathway. METHODS Rats were randomly divided into control group， model group， Yishen paidu formula low-dose （Yishen paidu formula-L） group， Yishen paidu formula high-dose （Yishen paidu formula- H） group， Yishen paidu formula-H+pcDNA-NC group， and Yishen paidu formula-H+ pcDNA-TXNIP group， with 10 rats in each group. Except for control group， all other rats were fed a diet containing 0.5% adenine to establish a CRF model； the rats were then administered corresponding drugs or normal saline intragastrically or via tail vein， once daily， for 8 consecutive weeks. After the last administration， the levels of serum creatinine （Scr）， blood urea nitrogen （BUN）， ROS， superoxide dismutase （SOD）， malondialdehyde （MDA）， tumor necrosis factor-α （TNF-α）， interleukin （IL）-6， and IL-1β were measured in each group. Pathological changes in renal tissue were observed， and the protein expression levels of Collagen Ⅲ， α-smooth muscle actin （α-SMA）， transforming growth factor-β1 （TGF-β1）， TXNIP and NLRP3 in renal tissue were detected. RESULTS Compared with model group， the renal histopathological damage and fibrosis of rats in Yishen paidu formula-L group and Yishen paidu formula-H group were significantly alleviated. The levels of Scr， BUN， ROS， MDA， TNF- α， IL-6 and IL-1β， and the protein expressions of Collagen Ⅲ， α-SMA， TGF-β1， TXNIP and NLRP3 were significantly decreased， while SOD levels were significantly increased （P＜0.05）. Moreover， the changes were more pronounced in the Yishen paidu formula-H group （P＜0.05）. Compared with Yishen paidu formula-H+pcDNA-NC group， above indexes of rats in Yishen paidu formula-H+pcDNA-TXNIP group were reversed significantly （P＜0.05）. CONCLUSIONS Yishen paidu formula can inhibit renal fibrosis in CRF rats by suppressing the ROS/TXNIP/NLRP3 pathway.

In recent years, remarkable advances have been made in lung transplantation regarding donor evaluation, perioperative support, and immune regulation, laying a foundation for improving the long-term survival of recipients. The rational application of extended criteria donor lungs and the popularization of ex vivo lung perfusion technology have enhanced the utilization efficiency and safety of marginal donor lungs. Refined assessment of risk factors such as donors’ smoking history and infectious status has reduced the incidence of primary graft dysfunction and postoperative infection. In terms of recipient management, individualized assessment systems have been gradually optimized. The standardized application of intraoperative extracorporeal membrane oxygenation and the development of minimally invasive surgical techniques have effectively alleviated perioperative injuries. The optimization of postoperative immunosuppressive regimens and advances in rejection monitoring technologies have further improved the long-term survival of grafts. Nevertheless, chronic graft dysfunction and recurrent or refractory infections remain the major bottlenecks restricting long-term prognosis. Future research should focus on expanding donor sources, improving the repair quality of marginal donor lungs, promoting precise immunosuppression and anti-infection strategies, and comprehensively enhancing the long-term survival rate and quality of life of lung transplant recipients.

Cognitive decline is one of the most common adverse symptoms following acute high-altitude exposure(AHAE).MRI can reveal the structural and functional changes in brain caused by AHAE,thereby deeply understanding the specific mechanism of its cognitive decline,which is of great significance for early prevention and intervention.Research progresses on MRI assessment of cognitive function after AHAE and related intervention methods were reviewed in this article.

Body weight abnormalities, including overweight, obesity, and underweight, have become a dual public health challenge in Chinese adults: overweight and obesity lead to a variety of chronic complications, while underweight increases the risks of malnutrition, sarcopenia, and organ dysfunction. To systematically address these issues, multidisciplinary experts in endocrinology, sports science, nutrition, and psychiatry from various regions have held multiple weight management seminars. Based on the latest epidemiological data and clinical evidence, they expanded the guideline to include assessment and intervention strategies for underweight, in addition to the core content of obesity management. This guideline outlines the etiological mechanisms, evaluation methods, and multidimensional management strategies for overweight and obesity, covering key areas such as diagnosis and assessment, medical nutrition therapy, exercise prescription, pharmacological intervention, and psychological support. It is intended to provide a scientific and standardized approach to weight management across the adult population, aiming to curb the rising prevalence of obesity, mitigate complications associated with abnormal body weight, and improve nutritional status and overall quality of life.

OBJECTIVE To investigate the therapeutic effect of Sanhan Huashi Formula(SHF)on respiratory syncytial virus(RSV)-infected mouse models and explore its potential antiviral and anti-inflammatory mechanisms using lipidomics.METHODS Fifty-four BALB/c mice were randomly divided into six groups(n=9):blank group,model group,Ribavirin group(50 mg·kg-1·d-1),and SHF high(15.46 g·kg-1·d-1),medium(7.73 g·kg-1·d-1),and low-dose(3.87 g·kg-1·d-1)groups.A pneumonia model was established by in-tranasal RSV infection,followed by three consecutive days of oral gavage administration.Lung tissues were collected for histopathologi-cal evaluation using hematoxylin-eosin(HE)staining and inflammation scoring.Real-time quantitative polymerase chain reaction(RT-qPCR)was performed to measure mRNA levels of viral gene fusion protein(F),glycoprotein(G),and inflammatory factors tumor necrosis factor-α(TNF-α)and interleukin-6(IL-6)to assess lung viral load and inflammation,while immunofluorescence staining was performed to observe the expression of RSV-F protein in lung tissues.Serum lipidomics analysis was conducted using ultra-performance liquid chromatography-quadrupole-electrostatic field orbitrap high-resolution mass spectrometry(UPLC-Q Exactive Or-bitrap MS)to identify lipid metabolism changes and differential lipids.RESULTS Compared with the blank group,mice in the model group exhibited marked pulmonary inflammatory cell infiltration and tissue injury,with significantly elevated pulmonary histopa-thology scores and lung index.The lung viral load and the mRNA expression levels of the inflammatory factors TNF-α and IL-6 were significantly increased,and immunofluorescence likewise indicated high expression of RSV-F protein in lung tissue.Relative to the model group,treatment with SHF at all tested doses clearly ameliorated lung tissue injury,effectively suppressed viral gene expression and inflammatory cytokine levels,and reduced the fluorescence signal intensity of RSV-F protein in the lungs.Lipidomics analysis re-vealed that compared with the blank group,the model group exhibited marked disturbances in lipid metabolism-characterized by dys-regulation of triacylglycerol(TG),phosphatidylcholine(PC),lysophosphatidylcholine(LPC),sphingomyelin(SM),diacylglycerol(DG),lysophosphatidylethanolamine(LPE),and phosphatidylethanolamine(PE).High-dose SHF treatment reversed these RSV-induced lipid abnormalities.CONCLUSION SHF effectively alleviates RSV-induced pulmonary inflammation and pathological injury,re-duces pulmonary RSV viral load,and may exert these effects by modulating dysregulated lipid metabolism in peripheral blood.

Creutzfeldt-Jakob disease(CJD)is a rapidly progressive and fatal neurodegenerative disorder caused by prions,with certain infectivity and iatrogenic transmission risks.With the rapid progress and application of new dia-gnostic biomarkers and detection methods,as well as the construction and improvement of surveillance and reporting systems,the detection of CJD in patients domestically and internationally has shown an increasing trend year by year.Due to its long incubation period and heterogeneity of early symptoms,early identification and diagnosis of the disease is difficult,increasing the risk of transmission within medical institutions.Currently,there is a lack of con-sensus on the infection prevention and control of CJD.In order to timely identify and diagnose CJD as well as effec-tively block its transmission in medical institutions,this consensus summarizes 15 clinical concerns and formulates 24 specific recommendations based on the latest domestic and international research findings and clinical evidence,as well as combines with clinical practice,aiming to standardize healthcare-associated infection prevention and control measures for CJD and reduce its transmission risk in medical institutions.

Medical imaging technology is essential for the diagnosis and prognostic evaluation of cervical cancer.With the rapid development of imaging technology,multimodal imaging which combines the advantages of various imaging techniques to obtain more comprehensive and accurate diagnostic information for precise diagnosis and treatment is served as a new imaging method for the diagnosis of cervical cancer.Meanwhile,near-infrared fluorescence imaging occupies an important position in multimodal imaging for its advantages of high sensitivity and low invasiveness.Starting from the probe of near-infrared fluorescence mediated multimodal imaging,the study explores the applications and future prospects of multimodal imaging methods combining near-infrared fluorescence imaging with different imaging techniques such as magnetic resonance imaging,computed tomography and photoacoustic imaging in the preclinical basic research on cervical cancer.

Objective To explore the relationship between the head injury criterion(HIC)values in anterior-posterior(AP)collisions and lateral-medial(LM)collisions.Methods A total of 102 male SD rats were randomly divided into a control group of 0 m(6 rats),4 AP groups(12 rats/group)and 4 LM groups(12 rats/group).After adaptive training,the classical Marmarou model was used to execute the brain AP and LM collisions under a series of different height impacts,and the HIC values were calculated.The experimental group data of the walk-pole test and grip strength test were collected at 24 hours before and after injury,and the data of the proportion of hemorrhage in the corpus callosum and pyramidal tracts were collected at 24 hours after injury.Results As the collision heights increased in both AP and LM groups,there were positive correlations with changes in WP test time and peak GS,and corresponding increases in the proportion of hemorrhage in the cc and py.According to the mathematical relationships between the comprehensive injury degrees and HIC values,it was found that at the same injury degree,LM-HIC value was less than AP-HIC value.A mathematical relationship between AP-HIC and LM-HIC was fitted based on the comprehensive injury degrees.At the same HIC,LM group experienced more severe injuries,and AP group was more tolerant to head collision.Conclusion The injury severity in LM group is greater than that of AP group at the same HIC.Preliminary results show there is a linear mathematical relationship between AP-HIC and LM-HIC.These results can be expected to expand the application scope of HIC and achieve an accurate assessment of the LM collision severity.