ObjectiveTo investigate the effects of lectin-like oxidized low-density lipoprotein receptor-1 （LOX-1） gene G501C on brain structure and cognitive function in patients with white matter hyperintensities （WMH）. MethodsA total of 118 patients with WMH were enrolled. All participants underwent T1-weighted and T2-fluid-attenuated inversion recovery （T2-FLAIR） MRI to assess gray matter structure and WMH burden， and completed the mini-mental state examination （MMSE） and Montreal cognitive assessment （MoCA）. Partial correlation and mediation analyses were performed to explore the impact of LOX-1 polymorphism on cognitive function. ResultsParticipants were divided into GG+GC group （n = 35） and CC group （n = 83）. The GG+GC group showed lower MMSE and MoCA scores （MMSE： P=0.003； MOCA： P=0.015）， as well as greater WMH burden （all P0.001）， compared with the CC group. Voxel-based morphometry （VBM） analysis revealed reduced left thalamic volume in the GG+GC group， which was correlated with cognitive scores （all P0.05）. Subregional thalamic analysis further showed volume reductions in the lateral， ventral， medial， and pulvinar thalamic regions （all P0.05） in the GG+GC group， all positively associated with cognitive performance （all P0.05）. Mediation analyses indicated that volumes of the medial and pulvinar thalamic regions mediated the association between genotype and cognitive function （MMSE， MoCA）， and that WMH volume mediated the effect on MoCA scores. ConclusionThe LOX-1 G501C polymorphism may indirectly affect cognitive function by influencing specific thalamic subregional volumes and white matter damage， suggesting a potential mediating role of thalamic structures between genetic background and cognitive impairment.

Objective:To evaluate the diagnostic value of intestinal tissue metagenomic next-generation sequencing (mNGS) in severe diarrhea following haploidentical allogeneic hematopoietic stem cell transplantation (allo-HSCT) .Methods:Sixteen patients who developed severe diarrhea or hematochezia after haploidentical allo-HSCT at the First Affiliated Hospital of Fujian Medical University (June 2023–August 2024) were enrolled. All underwent gastrointestinal endoscopy and mNGS for microbial detection. Clinical, endoscopic, pathological, and microbiological data were analyzed to evaluate the diagnostic value of mNGS and treatment outcomes following targeted therapy.Results:The study included 16 patients (12 males, 4 females; median age 32.5 years, range 3–60 years). Diarrhea occurred a median of 3.93 months post-transplant (range 1.63–10.40 months). Stool cultures were negative except for one case with Candida. One patient tested positive for Clostridium difficile antigen. Endoscopy revealed mucosal congestion, edema, erosion, and bleeding, with focal inflammation on pathology. mNGS detected pathogens in 87.5% (14/16) of cases, including mixed infections in 78.5% (11/14). Common pathogens were Klebsiella pneumoniae, Enterococcus faecium, Escherichia coli, Rhizopus microsporus, EBV, and CMV. Targeted treatment adjustments led to symptom improvement in 87.5% of patients.Conclusion:Allo-HSCT patients are prone to infectious diarrhea due to immunosuppression. Molecular analysis of endoscopic biopsy tissues using mNGS can accurately identify pathogens, guide targeted therapy, and improve clinical outcomes.

Objective:To evaluate the diagnostic value of intestinal tissue metagenomic next-generation sequencing (mNGS) in severe diarrhea following haploidentical allogeneic hematopoietic stem cell transplantation (allo-HSCT) .Methods:Sixteen patients who developed severe diarrhea or hematochezia after haploidentical allo-HSCT at the First Affiliated Hospital of Fujian Medical University (June 2023–August 2024) were enrolled. All underwent gastrointestinal endoscopy and mNGS for microbial detection. Clinical, endoscopic, pathological, and microbiological data were analyzed to evaluate the diagnostic value of mNGS and treatment outcomes following targeted therapy.Results:The study included 16 patients (12 males, 4 females; median age 32.5 years, range 3–60 years). Diarrhea occurred a median of 3.93 months post-transplant (range 1.63–10.40 months). Stool cultures were negative except for one case with Candida. One patient tested positive for Clostridium difficile antigen. Endoscopy revealed mucosal congestion, edema, erosion, and bleeding, with focal inflammation on pathology. mNGS detected pathogens in 87.5% (14/16) of cases, including mixed infections in 78.5% (11/14). Common pathogens were Klebsiella pneumoniae, Enterococcus faecium, Escherichia coli, Rhizopus microsporus, EBV, and CMV. Targeted treatment adjustments led to symptom improvement in 87.5% of patients.Conclusion:Allo-HSCT patients are prone to infectious diarrhea due to immunosuppression. Molecular analysis of endoscopic biopsy tissues using mNGS can accurately identify pathogens, guide targeted therapy, and improve clinical outcomes.

Objective To observe the value of ultrasonography for evaluating the anatomy and hemodynamic characteristics of vertebral artery course variation(VA-CV).Methods Totally 41 patients with VA-CV(VA-CV group)and 41 patients without VA-CV(control group)were enrolled.Lateral variation of vertebral artery(VA),the origin of V1 segment,the length of proximal subclavian artery(PSCA),the location of VA into the transverse foramen,the diameter of V2 segment,the peak systolic velocity(PSV)and the end-diastolic velocity(EDV)were evaluated with ultrasonography.The value of ultrasonography for evaluating VA-CV and relative hemodynamic changes were analyzed.Results Totally 49 variant VA were detected in VA-CV group,including 19 on the left and 30 on the right side,VA-CV on the right side was more often than on the left side.Seventeen(16 on the left and 1 on the right side)VA had abnormal origins,and abnormal VA origins on the left side were more than that on the right side(P＜0.001).Meanwhile,VA origins of right VA-CV were mostly lower than that of the left side VA-CV(P＜0.001).The length of right PSCA in VA-CA group was shorter than that in control group(P＜0.05).More than half variant VA entered vertebral space from the transverse foramen of C5-6(33/49,67.35％),and the higher the entrance of transverse foramen,the shorter the PSCA(P＜0.05).In VA-CV group,the diameter of V2 segment in left VA-CV patients was smaller than that in control group,while EDV in the former was lower than in the latter(both P＜0.05).Conclusion Ultrasonography could be used to objectively evaluate VA-CV and relative hemodynamic changes.

Objective:To explore the value of machine-learning models based on magnetic resonance imaging(MRI)radiomics features for the preoperative prediction of the blood supply in pituitary neuroendocrine tumors.Methods:A retrospective analysis was performed on the clinical and imaging data of 136 patients with pathologically confirmed pituitary neuroendocrine tumors(diameter>10 mm)from April 2013 to April 2023 at Yi Jishan Hospital of Wannan Medical College.Based on the intraoperative findings,the patients were assigned into richly vascularized(n=50)and normally vascularized(n=86)groups.All patients were allocated randomly in a 7:3 ratio into a training(n=96)or a validation group(n=40).Three machine-learning algorithms,multivariate Logistic regression(LR),random forest(RF),and support vec-tor machine(SVM),were used to establish radiomics prediction models.Receiver operating characteristic(ROC)curves were plotted to eval-uate the diagnostic performance of the models;decision curve analysis(DCA)was used to assess the net clinical benefit of the models.Res-ults:The clinical model achieved areas under the ROC curve(AUC)of 0.74 and 0.82 in the training and validation groups,respectively.The radiomics models using T1-weighted imaging(WI),T2WI,T1WI-enhanced,and combined sequences achieved AUCs of 0.80,0.84,0.82,and 0.84 in the training group and 0.82,0.80,0.85,and 0.83 in the validation group,respectively.The LR,RF,and SVM models had AUCs of 0.85,0.87,and 0.84 in the training group and 0.85,0.85,and 0.83 in the validation group,respectively.All radiomics models demonstrated great-er diagnostic efficacy than the clinical model.DCA indicated that the LR,SVM,and combined-sequence models achieved good net clinical be-nefits;the LR model showed the best results.Conclusions:Machine-learning models based on MRI radiomics exhibit high predictive value,surpassing the clinical judgment of radiologists based on MRI images alone,and offer a favorable net clinical benefit.

Objective To investigate the value of a nomogram model based on contrast-enhanced CT radiomics in predicting the histological type of thymoma.Methods A total of 154 patients(101 in low-risk group and 53 in high-risk group)with thymoma confirmed by pathology were retrospectively selected.The cases were randomly divided into training set(n=107)and validation set(n=47)at a ratio of 7∶3.The three-dimensional volume of interest(VOI)of the whole lesion on the image from the arterial phase of contrast-enhanced CT was manually delineated,and the radiomics features were extracted.Based on the selected radiomics features,the radiomics model was constructed and the model Radiomics score(Radscore)was calculated.Clinical risk factors were screened to construct a clinical model,and a nomogram model was constructed by fusing Radscore and clinical risk factors.The receiver operating characteristic(ROC)curve,area under the curve(AUC),accuracy,sensitivity and specificity were compared to analyze the predictive efficacy and difference of different models for high-risk and low-risk thymoma.The decision curve and calibration curve were drawn to evaluate the clinical value and fitting performance of the nomogram model.Results Eleven radiomics features were selected to construct the radiomics model,and five clinical risk factors[myasthenia gravis(MG),morphology,border,surrounding tissue invasion and CT value in arterial phase]were used to construct the clinical model.In the training set,the AUC of the nomogram model(0.88)was higher than that of the radiomics model(0.80)and the clinical model(0.79),and the difference was statistically significant(Z=2.233,2.713,P=0.026,0.007,respectively).In the validation set,the AUC of the nomogram model was higher than that of the radiomics and clinical models,but the difference was not statistically significant.The calibration curve showed that the nomogram model had good fitting performance,and the decision curve showed that the nomogram model had high clinical benefit.Conclusion The nomogram model based on contrast-enhanced CT can effectively predict high-risk and low-risk thymoma,which is helpful to guide clinicians to make relevant decisions.

Objective To explore the value of dynamic nomogram constructed by multi spiral computed tomography(MSCT)features combined with inflammatory indicators in predicting the status of microvascular invasion(MVI)of hepatocellular carcinoma(HCC)before surgery.Methods The clinical and imaging data of 137 patients with postoperative pathologically confirmed HCC were analyzed retrospectively.According to the status of the MVI,they were divided into positive group(44 cases)and negative group(93 cases).Multivariate logistic regression analysis was used to screen independent risk factors for predicting the MVI status of HCC patients,and a joint prediction model was constructed,which was displayed in the form of a dynamic nomogram.The receiver operating characteristic(ROC)curve,calibration curve and Hosmer-Lemeshow test were used to evaluate the diagnostic efficiency,calibration and goodness of fit of the model,Akaike information criterion(AIC)and Bayesian information criterion(BIC)were used for comparison between the models,and a 5-fold cross-validation and decision curve analysis(DCA)were also used to evaluate the stability and clinical applicability of the model.Results Multivariate logistic regression analysis showed that necrosis and delayed-phase enhancement(DEd),and alkaline phosphatase to lymphocyte ratio(ALR)were independent risk factors for predicting MVI status in HCC patients.The area under the curve(AUC)of the dynamic nomogram was 0.721,with the sensitivity of 0.705 and the specificity of 0.656.The AIC and BIC values were 152.372 and 158.212,respectively.The calibration curve and the Hosmer-Lemeshow test showed that the model had a high degree of calibration and goodness of fit(χ2=2.372,P=0.967),the average AUC of the 5-fold cross-validation was 0.787,and the DCA showed that the nomogram model had a good clinical applicability.Conclusion The dynamic nomogram model constructed by MSCT features combined with inflammatory indicators is feasible to predict the MVI status of HCC patients before surgery,and the dynamic nomogram can directly generate the prediction results of different individuals.

Objective:To compare the difference in clinical efficacy between a free wrist crease flap pedicled with superficial palmar branch of the radial artery flap (SPBRAF) and a traditional free toe flap (TFTF) in reconstruction of hand soft tissue defects, and to provide reference for the treatment of small-to medium-sized hand soft tissue defects.Methods:Data of 37 patients who received hand surgery in Department of Hand Surgery, No.971 Hospital of the PLA Navy from December 2016 to December 2019 for small-to medium-sized hand soft tissue defects were retrospectively studied. Among the 37 patients, there were 32 males and 5 females, aged between 18 and 65 years old, with 41.5 years old in average. According to the reconstructive surgical procedure, patients were divided into SPBRAF group (22 cases) and TFTF group (15 cases). Regular follow-ups were conducted after surgery. The difference in curative effect at the last follow-up between the 2 groups was evaluated by the comparison of data acquired in follow-up. SPSS 25.0 was used to analyse the data statistically. The evaluation indicators included flap survival, long-term recovery of flap, recovery effect at donor site, total active movement(TAM) of the affected digit, time of hospital stay and the time return to work. P<0.05 was considered a statistically significant. Results:All free flaps survived. All patients were entered 6-18 (mean, 10) months of postoperative follow-up to comprehensively evaluate the therapeutic effect. According to the Evaluation Trial Standards of Upper Limb Partial Function of Hand Surgery of Chinese Medical Association, in the SPBRAF group, 20 flaps were found in excellent, and 2 in good; in the TFTF group, 14 flaps were found in excellent, 1 in good. There was no statistical difference between the 2 groups( P>0.05). The colour, texture and thickness of flaps between the 2 groups were either in excellent or good. There was no statistical difference between the 2 groups( P>0.05). TPD in the TFTF group (5-6 mm) was better than that in SPBRAF group (6-7 mm) with statistical difference between the 2 groups ( P<0.05). Texture at donor sites between the 2 groups was either in excellent or good ( P>0.05). In terms of appearance, sensation and recovery time of donor site, it was found that the SPBRAF group(mean, 6 weeks) was significantly better than those in the TFTF group(mean, 8 weeks) and there was statistical difference between the 2 groups ( P<0.05). In terms of recovery of TAM in single-digit, excellent or good were shown in both groups and there was no statistical difference between the 2 groups ( P>0.05). In terms of hospitalisation and time for return to work, the SPBRAF group(mean, 8 days and 17 weeks) was significantly better than that of TFTF group(mean, 12 days and 24 weeks), and there was statistical difference between the 2 groups ( P<0.05). Conclusion:SPBRAF has an ideal effect on reconstruction of small-to medium-sized hand soft tissue defects in hand. Although the flap is still inferior in sensation and appearance compared with the TFTF, the advantages in terms of donor site recovery, patient satisfaction of the donor site and reduced time of hospitalisation and return to original work are more obvious. SPBRAF provides a good complement to surgical procedures reconstructing a digit defect.

OBJECTIVE: To explore the clinical characteristics and genetic variants in a patient with adult ceroid lipofuscinosis neuronal type 7 (ACLN7). METHODS: A female patient diagnosed with ACLN7 in Henan Provincial People's Hospital in June 2021 was selected as the study subject. Clinical data, auxiliary examination and result of genetic testing were retrospectively analyzed. RESULTS: The patient, a 39-year-old female, has mainly presented progressive visual loss, epilepsy, cerebellar ataxia and mild cognitive decline. Neuroimaging analysis has revealed generalized brain atrophy, prominently cerebellum. Fundus photography has revealed retinitis pigmentosa. Ultrastructural skin examination has revealed granular lipofuscin deposits in the periglandular interstitial cells. Whole exome sequencing revealed that she has harbored compound heterozygous variants of the MSFD8 gene, namely c.1444C>T (p.R482*) and c.104G>A (p.R35Q). Among these, c.1444C>T (p.R482*) was a well established pathogenic variant, while c.104G>A (p.R35Q) was a missense variant unreported previously. Sanger sequencing confirmed that the daughter, son and elder brother of the proband have respectively carried heterozygous c.1444C>T (p.R482*), c.104G>A (p.R35Q), and c.104G>A (p.R35Q) variants of the same gene. The family has therefore fit with the autosomal recessive inheritance pattern of the CLN7. CONCLUSION Compared with previously reported cases, this patient has the latest onset of the disease with a non-lethal phenotype. Her clinical features have involved multiple systems. Cerebellar atrophy and fundus photography may be indicative of the diagnosis. The c.1444C>T (p.R482*) and c.104G>A (p.R35Q) compound heterozygous variants of the MFSD8 gene probably underlay the pathogenesis in this patient.
Male ; Female ; Humans ; Membrane Transport Proteins/genetics* ; Neuronal Ceroid-Lipofuscinoses/diagnosis* ; Retrospective Studies ; Atrophy ; Mutation

Abstract The popularization of the use of electronic has become a global trend, and children are exposed to devices at younger ages. A large proportion of children and adolescents spend on screen time more than 2 h which is recommended in most guidelines. The paper reviews possible effects of screen time on physical and mental health, as well as mental disorders in children and adolescents. It is found that excessive screen time showed negative impacts on mental health, including depression, anxiety, mood disorder, social adaptational problems, behavioral disorders, self injurious behaviors, and health risk behaviors. Much attention has been paid on the association between excessive screen time and mental health of children and adolescents, while possible mechanisms and influencing factors are lacking. Effective intervention studies are needed to provide a basis for child and adolescent health promotion.