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.

BACKGROUND:Acupuncture is an effective method for lumbar pain in lumbar disc herniation,but its mechanism has not yet been clarified.Factors related to the JAK2/STAT3 signaling pathway regulate the body's inflammatory response and are involved in the process of neuropathic pain. OBJECTIVE:To study the mechanism of acupuncture on lumbar disc herniation in a rat model based on the JAK2/STAT3 signaling pathway. METHODS:Forty Sprague-Dawley rats were randomly divided into four groups:sham operation group,model group,acupuncture group,and acupuncture+agonist group,with 10 rats in each group.Animal models of L5 lumbar disc herniation was constructed through autologous disc cell transplantation in the model group,acupuncture group,and acupuncture+agonist group.Rats in the acupuncture group and the acupuncture+agonist group received acupuncture treatment(Yanglingquan,Shenshu,Huantiao,and Dachangshu acupoints)at 3 days after modeling,and acupuncture treatment was given once a day,20 minutes each,for 15 consecutive days.Rats in the acupuncture+agonist group were injected intrathecally with coumermycin A1,a JAK2 agonist,into the L4/L5 intervertebral space,once a day,20 minutes each,prior to the acupuncture at 6,12,and 18 days after modeling.Paw withdrawal mechanical threshold was detected before and 3,6,9,12,15,and 18 days after modeling.At 18 days after modeling,serum inflammatory factor levels were detected,hematoxylin-eosin staining was performed to observe the morphology of L5-L6 tissues,RT-PCR was performed to detect the expression of JAK2 and STAT3 mRNAs in L5-L6 tissues,and western blot was performed to detect the expression of JAK2,p-JAK2 and p-STAT3 proteins in L5-L6 tissues. RESULTS AND CONCLUSION:The paw withdrawal mechanical thresholds of rats in the model group at different time points after modeling were lower than those in the sham operation group(P<0.05),the paw withdrawal mechanical thresholds of rats in the acupuncture group were higher than those in the model group at 9,12,15,and 18 days after modeling(P<0.05),and the paw withdrawal mechanical thresholds of rats in the acupuncture+agonist group were lower than those in the acupuncture group at 9,12,15,and 18 days after modeling(P<0.05).The levels of interleukin 6,tumor necrosis factor α,neurotransmitter substance P,and brain neuropeptide Y were elevated in the model group compared with the sham operation group(P<0.05);the levels of all four inflammatory factors were reduced in the acupuncture group compared with the model group(P<0.05);and the levels of all four inflammatory factors were elevated in the acupuncture+agonist group compared with the acupuncture group(P<0.05).Hematoxylin-eosin staining showed that lumbar degeneration was obvious in the model group but reduced in the acupuncture group and the acupuncture+agonist group.Moreover,the reduction was more obvious in the acupuncture group compared with the acupuncture+agonist group.The JAK2 and STAT3 mRNA expression as well as the p-JAK2 and p-STAT3 protein expression were elevated in the model group compared with the sham operation group(P<0.05),were decreased in the acupuncture group compared with the model group(P<0.05),and were increased in the acupuncture+agonist group compared with the acupuncture group(P<0.05).To conclude,acupuncture can alleviate inflammation to exert analgesic effects in the rat model of lumbar disc herniation,and its mechanism of action may be related to the inhibition of the JAK2/STAT3 signaling pathway.

Pediatric severe pneumonia is characterized by an abrupt onset and swift progression，frequently complicated by serious complications，which is the leading cause of death in children under 5 years old. In recent years，the prevalence of gram-negative bacterial infections in severe pneumonia patients has been on the rise，and the inappropriate use of antibiotics has augmented the resistance of bacteria，thereby complicating their treatment. Therefore，early diagnosis and timely treatment are particularly critical. This review provided the common gram-negative bacteria，risk factors and triggers，microbiological testing methods，resistance mechanism，and treatment in children with severe pneumonia，with the aim of providing clinically useful guidance for pediatricians when treating such patients.

Objective:To evaluate the efficacy of early bronchoalveolar lavage using electronic bronchoscopy in pediatric drowning cases.Methods:A retrospective analysis of clinical data from 81 pediatric drowning cases treated in the intensive care unit of Hunan Children's Hospital from January 2017 to September 2023 was conducted.Among these,43 cases underwent bronchoalveolar lavage with electronic bronchoscopy within 24 hours of drowning,constituting the treatment group,while 38 cases either did not receive treatment within 24 hours or underwent the procedure after 24 hours,forming the control group.We compared the two groups regarding pre-admission observations,admission observations,and disease progression or prognosis indicators to assess the clinical efficacy of early bronchoalveolar lavage with electronic bronchoscopy in pediatric drowning cases.Results:Compared to the control group,children in the treatment group exhibited a significant reduction in invasive ventilation time [(73.33±13.33) h vs.(94.82±15.77) h] and a significant decrease in pediatric intensive care unit stay [105.00 (94.00,121.00) h vs.123.5 (109.75,149.00) h],with both differences being statistically significant( P<0.05).No significant differences in white blood cell count and neutrophil percentage were observed between the treatment group and control group at admission and on the first day( P>0.05).However,by the third day,there was a significant improvement in white blood cell count in both groups,with statistical significance( P<0.05).There was a significant decrease in C-reactive protein and procalcitonin levels between the treatment group and control group on the 1st and 3rd days,with the differences being significant( P<0.05).Six hours after electronic bronchoalveolar lavage,the P/F ratio in the treatment group was lower than that in the control group (177.09±41.27 vs. 233.50±48.23),but it increased more significantly at 24 hours (286.00±34.32 vs.256.34±44.22),with a significant difference between two groups.The positive rate of lavage fluid culture in the treatment group was significantly higher than that in the control group,and the difference was statistically significant( P<0.05).There was no significant difference in the number of organ function damage between two groups( P>0.05).However,regarding prognosis,the treatment group showed significantly better outcomes than the control group( P<0.05). Conclusion:For pediatric patients with wilderness drowning,early electronic bronchoscopy with alveolar lavage may shorten the duration of invasive mechanical ventilation and pediatric intensive care unit stay,improving prognosis,and is worth promoting.

Objective:To evaluate the efficacy, safety, and prognostic factors of transarterial chemoembolization (TACE) combined with molecular targeted therapy (MTT) and camrelizumab in patients with unresectable recurrent hepatocellular carcinoma (urHCC).Methods:Clinical data of 83 patients with urHCC treated at the First Affiliated Hospital of the University of Science and Technology of China between October 2018 and October 2023 were retrospectively analyzed, including 75 males and 8 females, aged (55.2±10.7) years. Among them, 43 patients received TACE combined with MTT and camrelizumab (observation group), while 40 received TACE combined with MTT alone (control group). Kaplan-Meier curves were plotted to compare overall survival (OS) and progression-free survival (PFS) between the groups. Treatment response was assessed according to the mRECIST criteria, and objective response rate (ORR) and disease control rate (DCR) were compared. Adverse events (AEs) were monitored in both groups.Results:The observation group demonstrated longer median OS (31.8 vs 19.9 months, χ2=11.26, P=0.001) and median PFS (14.5 vs 7.4, months, χ2=4.08, P=0.043) compared to the control group. The ORR and DCR in the observation group were 51.2% (22/43) and 90.1% (39/43), respectively, both higher than those in the control group [25.0% (10/40) and 70.0% (28/40), respectively]. The differences were statistically significant ( χ2=5.99, 5.71; P=0.023, 0.025; respectively). Multivariate Cox analysis showed that different treatment regimens were influencing factors for post-treatment survival in patients with urHCC (control group vs treatment group: HR=2.633, 95% CI: 1.483- 4.677, P<0.001), as well as for PFS (control group vs treatment group: HR=1.781, 95% CI: 1.116-2.842, P=0.015). No treatment-related deaths or unexpected AEs occurred in either group. The most common systemic therapy-related AE was hand-foot syndrome, observed in 15 patients (34.9%, 15/43) in the observation group and 9 (22.5%, 9/40) in the control group ( χ2=1.55, P=0.236). Conclusions:Compared to TACE combined with MTT alone, TACE combined with MTT and camrelizumab demonstrates superior efficacy and acceptable safety in treating unresectable recurrent HCC.

Objective:Based on a propensity score matchied analysis, the impact of neoadjuvant therapy, namely the transcatheter arterial chemoembolization (TACE) combined with the targeted and immunotherapy, on the prognosis of patients undergoing liver resection for hepatocellular carcinoma (HCC).Methods:Clinical data of 226 patients who underwent surgical resection for HCC of China Liver Cancer (CNLC) stage Ib, IIa, IIb, and IIIa at the Second Affiliated Hospital of Anhui Medical University from February 2020 to December 2024 were retrospectively analyzed, including 201 males and 25 females, aged 64.6±9.4 years. Patients were divided into the neoadjuvant therapy group ( n=25) and the direct surgery group ( n=201). Propensity score matching was used to analyze the liver fibrosis-4 score, platelet count, prothrombin time, activated partial thromboplastin time, and tumor number of the two groups. Postoperative pathological assessment of liver resection was performed. The Kaplan-Meier method was used to analyze the prognosis, and the log-rank test was used to compare the survival rates of the two groups. Results:After propensity score 1: 3 matching, there were no statistically significant differences (all P>0.05) regarding the baseline characteristics of the two groups. Pathological assessment after hepatectomy: the complete pathological response rate was 8% (2/25), and the major pathological response rate was 36% (9/25). The recurrence-free survival rates at 1, 2, and 3 years after surgery in the direct surgery group and the neoadjuvant therapy group were 52.0%, 48.0%, and 42.7% versus 76.0%, 72.0%, and 68.0%, respectively ( χ2=4.76, P=0.029). The overall survival rates at 1, 2, and 3 years after surgery in the direct surgery group and the neoadjuvant therapy group were 80.0%, 78.7%, and 77.3% versus 100.0%, 96.0%, and 96.0%, respectively ( χ2=4.31, P=0.038). Conclusion:Neoadjuvant therapy could reduce the risk of postoperative recurrence and prolong patients survival

Objective:To understand the functional requirements and suggestions of relevant stakeholders on the Internet platform for remote rehabilitation management of patients after arthroscopy, so as to provide a reference basis for building a home rehabilitation management scheme and developing a remote Internet platform.Methods:Based on the technology acceptance model, a descriptive qualitative study was conducted using purposive sampling and maximum difference method to select 11 arthroscopic postoperative patients, 4 patient caregivers, and 7 clinical professionals from the Sports Medicine Department of Wuxi Ninth People′s Hospital (Orthopaedic Hospital) from October to December 2022. A total of 22 stakeholders were interviewed in a semi-structured manner, and the Colaizzi was used to analyze the interview data.Results:Among 22 interviewers, 12 males, 10 females, aged 25-65 years. A total of four topics were summarized: the willingness to use the Internet platform for remote rehabilitation management, the demand for the content provided by the Internet platform for remote rehabilitation management, the demand for the module functions of the Internet platform for remote rehabilitation management, and the demand for the operability of the Internet platform for remote rehabilitation management.Conclusions:The general attitude of the stakeholder groups towards the use of the Internet platform for remote rehabilitation management of patients after arthroscopy is positive. It is hoped that the platform will have diversified functions and good usability, improve the compliance and enthusiasm of patients in home rehabilitation exercise, and thus promote the recovery of limb function.

Objective:To evaluate the efficacy, safety, and prognostic factors of transarterial chemoembolization (TACE) combined with molecular targeted therapy (MTT) and camrelizumab in patients with unresectable recurrent hepatocellular carcinoma (urHCC).Methods:Clinical data of 83 patients with urHCC treated at the First Affiliated Hospital of the University of Science and Technology of China between October 2018 and October 2023 were retrospectively analyzed, including 75 males and 8 females, aged (55.2±10.7) years. Among them, 43 patients received TACE combined with MTT and camrelizumab (observation group), while 40 received TACE combined with MTT alone (control group). Kaplan-Meier curves were plotted to compare overall survival (OS) and progression-free survival (PFS) between the groups. Treatment response was assessed according to the mRECIST criteria, and objective response rate (ORR) and disease control rate (DCR) were compared. Adverse events (AEs) were monitored in both groups.Results:The observation group demonstrated longer median OS (31.8 vs 19.9 months, χ2=11.26, P=0.001) and median PFS (14.5 vs 7.4, months, χ2=4.08, P=0.043) compared to the control group. The ORR and DCR in the observation group were 51.2% (22/43) and 90.1% (39/43), respectively, both higher than those in the control group [25.0% (10/40) and 70.0% (28/40), respectively]. The differences were statistically significant ( χ2=5.99, 5.71; P=0.023, 0.025; respectively). Multivariate Cox analysis showed that different treatment regimens were influencing factors for post-treatment survival in patients with urHCC (control group vs treatment group: HR=2.633, 95% CI: 1.483- 4.677, P<0.001), as well as for PFS (control group vs treatment group: HR=1.781, 95% CI: 1.116-2.842, P=0.015). No treatment-related deaths or unexpected AEs occurred in either group. The most common systemic therapy-related AE was hand-foot syndrome, observed in 15 patients (34.9%, 15/43) in the observation group and 9 (22.5%, 9/40) in the control group ( χ2=1.55, P=0.236). Conclusions:Compared to TACE combined with MTT alone, TACE combined with MTT and camrelizumab demonstrates superior efficacy and acceptable safety in treating unresectable recurrent HCC.