This article reports a successful case of preimplantation genetic testing (PGT) in a patient with autosomal dominant polycystic kidney disease type 2 (PKD2) combined with Robertsonian translocation. The patient carried a heterozygous frameshift mutation ( PKD2 c.428del, p.Gly143Alafs*90) and a Robertsonian translocation between chromosomes 14 and 15. Through combined PGT for monogenic disorders, structural rearrangements and aneuploidy screening, one euploid blastocyst free of the PKD2 mutation was selected from six embryos for transfer, resulting in the successful delivery of a healthy female infant. Follow-up until June 2025 confirmed normal developmental milestones. This case demonstrates that PGT can effectively mitigate dual genetic risks (monogenic disease and chromosomal abnormality), providing critical clinical insights for optimizing reproductive outcomes in patients with complex genetic backgrounds.

The efficacy of preoperative neoadjuvant chemoradiotherapy(nCRT)in locally advanced rectal cancer(LARC)is predicted using radiomic features of the target areas in radiotherapy for rectal cancer and an interpretable machine learning model.The clinical data are collected from 290 LARC patients who are divided into effective and ineffective groups based on tumor regression grade.The extracted radiomic features and clinicopathological data are used to develop prediction models.The optimal model is determined based on AUC performance evaluation,and the explanatory analysis is conducted using nomogram and decision curve.A total of 223 patients are included in the study,with 48 in the effective group.There are 156 patients in the training set(34 in the effective group)and 67 patients in the validation set(14 in the effective group).The nomogram model shows the best performance,with AUC of 0.858 in the training set and 0.844 in internal test set,and decision curve analysis demonstrated its superior net clinical benefit across most threshold ranges than other models.Combining radiomics and clinical variables,the nomogram can effectively predict nCRT outcomes and support clinical decision-making.

Objective To explore the expression and diagnostic value of serum cardiac troponin Ⅰ (cTn Ⅰ ) and neuron-specific enolase protein (NSE) in patients with cryptogenic stroke caused by patent foramen ovale (PFO). Methods A total of 108 patients with PFO admitted to Dazhou Central Hospital from December 2020 to December 2022 were selected and divided into 32 patients with cryptogenic stroke group (stroke group) and 76 patients with non-cryptogenic stroke group (non-stroke group) according to whether the patients caused cryptogenic stroke. According to the National Institutes of Health Stroke Scale (NIHSS),they were divided into mild group (<4points,n=10),moderate group (4～15points,n=15) and severe group (>15points,n=7). levels of fibrinogen (FIB),C-reactive protein (CRP),and alanine aminotransferase (ALT) were measured by an automatic biochemical analyzer in all patients. The serum levels of cTn Ⅰ and NSE were detected by ELISA-diagnostic value of serum cTn Ⅰ and NSE in PFO-induced cryptogenic stroke by ROC curve analysis. Logistic regression was applied to analyze the factors affecting the occurrence of cryptogenic stroke in PFO patients. Results Compared with the non-stroke group,the levels of FIB(3.20±0.36g/L vs 2.95±0.30g/L),CRP(73.58±7.43mg/L vs 62.52±7.11mg/L),ALT (68.58±6.82U/L vs 61.08±6.28U/L),cTn Ⅰ(0.78±0.10ng/L vs 0.58±0.08ng/L)and NSE(37.52±3.82μg/L vs 30.35±3.72μg/L)in the stroke group were increased,and the differences were statistically significant(t=3.722～10.994,all P<0.05). Compared with the mild group,the levels of cTn Ⅰ and NSE in the serum of patients in the moderate and severe groups were increased(t=5.891,7.177;3.458,4.105),the levels of cTn Ⅰ,NSE in the serum of the severe group were significantly higher than those in the moderate group (t=2.474,1.336),the differences were statistically significant (all P<0.05).The AUC (95％ CI) for the combined diagnosis of cryptogenic stroke in PFO patients was[0.981 (0.962～1.000)],which was higher than cTn Ⅰ[0.878(0.864～0.948)],NSE[0.911(0.850～0.972)]diagnosed alone (Z=8.621,6.477,all P<0.001). Logistic regression analysis showed that cTn Ⅰ (OR=2.631,95％CI:1.508～4.591),and NSE(OR=2.841,95％CI:1.514～5.330)were the influencing factors for the occurrence of cryptogenic stroke in PFO patients (P<0.05). Conclusion The serum levels of cTn Ⅰ and NSE in patients with cryptogenic stroke caused by PFO patients are significantly increased,which has certain diagnostic value for patients with cryptogenic stroke.

This article reports a successful case of preimplantation genetic testing (PGT) in a patient with autosomal dominant polycystic kidney disease type 2 (PKD2) combined with Robertsonian translocation. The patient carried a heterozygous frameshift mutation ( PKD2 c.428del, p.Gly143Alafs*90) and a Robertsonian translocation between chromosomes 14 and 15. Through combined PGT for monogenic disorders, structural rearrangements and aneuploidy screening, one euploid blastocyst free of the PKD2 mutation was selected from six embryos for transfer, resulting in the successful delivery of a healthy female infant. Follow-up until June 2025 confirmed normal developmental milestones. This case demonstrates that PGT can effectively mitigate dual genetic risks (monogenic disease and chromosomal abnormality), providing critical clinical insights for optimizing reproductive outcomes in patients with complex genetic backgrounds.

Objective·To observe the impact of hip synovitis on the long-term outcomes of free vascularized fibular grafting(FVFG)for osteonecrosis of femoral head(ONFH).Methods·Between October 2001 and December 2013,370 patients diagnosed with ONFH(556 hips)underwent FVFG.Preoperative synovitis was assessed using magnetic resonance imaging(MRI)and quantified with the Hip Inflammation MRI Scoring System(HIMRISS).Patients were divided into no synovitis group,moderate synovitis group,and severe synovitis group.Harris hip scores and the incidence of total hip arthroplasty were collected with an average follow-up duration of 90.5 months(range:5-215 months).Hip survival failure(defined as a Harris hip score lower than 80 at the final follow-up or the occurrence of total hip arthroplasty)was calculated.Multivariable Cox regression analysis was adopted to compare the influence of different degrees of synovial inflammation on long-term prognosis.Results·The proportion of hip survival failure was 28.0％in patients without synovitis and 28.5％in those with moderate synovitis,whereas it was significantly higher(60.4％)in patients with severe synovitis.The results of multivariable Cox regression analysis showed that severe synovitis was an independent risk factor for poor prognosis(HR 2.06,95％CI 1.21-3.53)after adjusting for age,gender,education level,marital status,ONFH type,affected side of ONFH,smoking history,baseline Harris hip score and other hip MRI-based covariates(collapse,bone marrow edema,and degeneration).Conclusion·Severe synovitis in patients with ONFH significantly increases the failure rate of hip preservation after FVFG,and the severity of synovitis should be considered in surgical decision-making.

Objective:To study the impact of fluoride exposure through drinking water on the risk of hypertension among residents in Jishan County, Shanxi Province.Methods:From March to April 2023, a cluster sampling method was used to select permanent residents aged ≥18 years and residing for ≥10 years in 12 villages in drinking water-borne endemic fluorosis areas of Jishan County, Shanxi Province as the survey subjects. A questionnaire survey, physical examination, and morning urinary fluoride level testing were conducted. The least absolute shrinkage and selection operator (Lasso) regression were used to analyze the key influencing factors of hypertension. Restricted cubic spline was used to evaluate the linear relationship between urinary fluoride and hypertension. Logistic regression was used to analyze the impact of urinary fluoride on hypertension.Results:Finally, 2 453 survey subjects were included, aged (62 ± 10) years, including 1 565 patients (63.80%) with hypertension. There were significant differences in the distribution of age, gender, education level, annual household income, body mass index (BMI), and the level and distribution of urinary fluoride between hypertension group and normal blood pressure group ( P < 0.05). The Lasso regression results showed that age, education level, BMI, and urinary fluoride were the key influencing factors of hypertension, with coefficients of 1.04, - 0.12, 0.24 and 0.01, respectively. The results of the restricted cubic spline showed that there was a linear relationship between urinary fluoride and hypertension after adjusting for age, education level, and BMI ( Poverall = 0.018, Pnonlinear = 0.482). The logistic regression results showed that after adjusting for age, education level, and BMI, urinary fluoride > 4.68 mg/L was a risk factor for hypertension ( OR = 1.42, 95% CI: 1.10 - 1.84, P = 0.007). Conclusion:High urinary fluoride is a risk factor for hypertension in drinking water-borne endemic fluorosis areas of Jishan County, Shanxi Province.

Objective:To explore the lived experiences of family members of terminal ICU patients regarding their humanistic care needs and provide theoretical foundations for developing nursing care plans tailored to their needs.Methods:This study was a descriptive qualitative study. From April to December 2023, 16 family members of terminally ill ICU patients in Shanghai East Hospital, Tongji University were selected for semi-structured interviews using purposive sampling method, and the interview data were qualitatively analyzed using Colaizzi 7-step analysis.Results:The humanistic care needs of family members of terminally ill ICU patients can be categorized into five themes, namely, the need to know the condition at the first time; the need to participate in treatment and decision-making; the need to respect the wishes of terminally ill patients; the need for psychological care; and the need for social support.Conclusions:The humanistic care needs of family members of terminal ICU patients remain largely unmet. Nursing professionals should consider these needs and preferences and provide family members with professional guidance to help them establish positive coping mechanisms.

Objective To analyze the virus subtypes, molecular evolutional and molecular transmission network features of the first confirmed mpox case in Huai’an City, Jiangsu Province, so as to provide insights into understanding of the transmission and evolution dynamics of mpox virus and formulation of the mpox control strategy in the city. Methods Genomic DNA was extracted from swabs of the first confirmed mpox case’s skin lesions in Huai’an City, and the amplicon sequencing library was constructed using the hypersensitive mpox virus whole-genome capture kit. High-throughput sequencing was performed using the GridION X5 nanopore sequencer on the Nanopore sequencing platform, and single nucleotide polymorphism (SNP) analysis of mpox virus genome sequences was performed following sequence assembly. In addition, phylogenetic analysis, genetic genealogy and molecular traceability analysis were performed. Results The virus whole genome sequence of the first confirmed mpox case was successfully obtained by high-throughput sequencing, with a full length of 197 182 bp, and was named hMpxV/China/JS-HA01/2023, which belonged to the clade IIb (West African clade) lineage B.1.3. Compared with the mpox virus reference sequence MPXV-M5312_HM12_Rivers-001 (GenBank accession number: NC_063383), the genome sequence of the Huai’an virus isolate carried 86 SNPs, including 40 SNPs in the coding region as non-synonymous mutations and 73 SNPs as nucleotide mutations caused by APOBEC3 (APOBEC3). Of the 97 mpox virus gene sequences, 79 sequences were included in the molecular network (81.44%), and the threshold of the genetic distance accessed to the network was 0.35/10⁵. There were two large molecular transmission clusters and one scattered cluster in the molecular transmission network of the mpox virus, andthehMpxV/China/JS-HA01/2023 sequence was located in the large cluster. The 97 gene sequences formed 92 haplotypes, including three shared haplotypes Hap_4, Hap_6 and Hap_38, and an exclusive haplotype Hap_1 of hMpxV/China/JS-HA01/2023 generated from mutation of the exclusive haplotype Hap_43, while the exclusive haplotype Hap_43 was generated from mutation of the shared haplotype Hap_38. Conclusions The whole genome sequence of the mpox virus isolated from the first confirmed mpox case in Huai’an City has been successfully obtained, and the molecular evolutionary and molecular transmission network characteristics of the virus have been preliminarily understood.

Objective To construct a prognostic model of lung adenocarcinoma(LUAD)based on m5C modification-related genes and to explore its clinical value.Methods Based on the LUAD data in TCGA,GSE30219,GSE31210,and GSE50081 cohorts,prognosis-related m5C modification-related genes were screened,and the prognostic model was constructed by using univariate Cox,Lasso,and multivariate Cox regression analyses.Kaplan-Meier curve,ROC curve,and Cox regression were used to observe the robustness and prognostic performance of the model.The correlation between the prognostic model and clinico-pathologic features was further explored.Results A prognostic model consisting of eight m5C modifi-cation-related genes,including CDK1,CDKN1A,NOP2,RRM2,TCL6,TLR8,TRDMT1,and YTHDF2,was constructed.Risk score was an independent risk factor for the prognosis of patients with LUAD,and it is combined with age,T stage,and N stage to constitute a nomogram which can accurately predict the prognosis of patients.The infiltration of macrophages and CD4+/CD8+T cells was significantly reduced in high-risk patients.The risk score in LUAD tissues was significantly higher than that in normal tissues and was positively correlated with T stage and N stage.The risk score of smoking and EGFR wild-type patients was higher than that of non-smoking and EGFR-mutant patients.Conclusion The prognostic model constructed based on m5C modification-related genes has shown good accuracy and stability in predicting the prognosis of patients with LUAD,and it is closely related to clinical features,driver gene mutations,and immune infiltration,which can provide a potential basis for the treatment and prognostic assessment of LUAD.

Objective:To investigate the correlation between cerebral blood flow (CBF) in different brain regions and gait disorder (GD) in patients with cerebral small vessel disease (CSVD).Methods:Patients with CSVD visited the Department of Neurology, the Second Affiliated Hospital of Xuzhou Medical University from November 2023 to October 2024 were included prospectively. They were divided into GD group (<0.8 m/s) and non-GD group (≥0.8 m/s) based on their step speed. CBF was measured using 3D pseudo-continuous arterial spin labeling (3D-pCASL) perfusion imaging. Gait parameters were quantitatively evaluated using a wearable gait analyzer. Multivariate logistic regression analysis was used to determine independent factors associated with GD in patients with CSVD. Partial correlation analysis was used to determine the correlation between gait parameters and CBF in different brain regions. Results:A total of 52 patients with CSVD were enrolled, including 26 males and 26 females, aged 67.00±6.84 years. Thirty-eight cases (73.1%) had mild overall burden of CSVD, and 14 cases (26.9%) had a moderate to severe overall burden of CSVD. There were 17 patients (32.7%) in the GD group and 35 (67.3%) in the non-GD group. Compared with the non-GD group, the body mass index was significantly higher, the CBF of the left occipital lobe and bilateral cerebellum decreased significantly, the step speed, step length, stride length, step frequency, swing phase, peak arm angular velocity, arm swing amplitude, maximum calf anterior/posterior swing angle, peak calf angular velocity, foot swing speed, and peak sagittal plane angular velocity in the torso decreased significantly, while the number of steps, stance phase, step length asymmetry, stride length, and step length variability increased significantly in the GD group (all P<0.05). Multivariate logistic regression analysis showed that left cerebellar CBF was an independent protective factor for GD in patients with CSVD (odds ratio 0.902, 95% confidence interval 0.827-0.982; P=0.019). For every 1 ml/(100 g.min) decreased in left cerebellar CBF, the patients with CSVD had an increased risk of developing GD by approximately 9.8%. Partial correlation analysis showed that left occipital lobe CBF was significantly positively correlated with step speed ( r=0.305, P=0.032), maximum calf back swing angle ( r=0.314, P=0.026), and peak calf angular velocity ( r=0.356, P=0.011). The left cerebellar CBF was significantly positively correlated with step speed ( r=0.295, P=0.037) and significantly negatively correlated with step length variability ( r=-0.335, P=0.017); the right cerebellar CBF was significantly positively correlated with step speed ( r=0.309, P=0.029) and significantly negatively correlated with step length variability ( r=-0.344, P=0.014). Conclusion:GD in patients with CSVD is associated with decreased CBF in the left occipital lobe and bilateral cerebellum, and decreased CBF in the left cerebellum significantly increased the risk of GD in patients with CSVD.