Objective To observe the value of 5.0T MR susceptibility weighted imaging(SWI)for displaying cerebral small veins and detecting cerebral microbleeds(CMB).Methods Head MR examinations were prospectively performed using both 3.0T and 5.0T MR scanner in 30 stroke patients suspected caused by cerebral small vessel disease.The image quality,effect of displaying cerebral small veins and detecting CMB were compared between 3.0T and 5.0T SWI.Results The image quality scores,signal-to-noise ratios,contrast-to-noise ratios,scores of displaying deep cerebral veins and subcortical veins,the counts of detecting CMB and iron deposition on cortical surface of 5.0T SWI were all higher than those of 3.0T SWI(all P＜0.05).High consistency of CMB positions was found between 3.0T and 5.0T SWI(Kappa=1.0).Conclusion The effect of 5.0T MR SWI for displaying cerebral small veins and detecting cerebral microbleeds were better than 3.0T MR SWI,which could be used to assess stroke caused by cerebral small vascular disease.

Since the publication of guidelines for diagnosis and treatment of primary liver cancer by National Health Commission of the People's Republic of China in 2017,which were updated in 2019 and 2022.The new version of the guidelines(2024 edition)has been published,which aims to early diagnosis,treatment and improvement of survival rate for patients with hepatocellular carcinoma.Imaging is essential for early diagnosis of hepatocellular carcinoma and the new guidelines feature major changes in the imaging techniques for early diagnosis of subcentimeter hepatocellular carcinoma(diameter≤1.0 cm),which were interpretated in this article.

The incidence and mortality rates of primary liver cancer remain very high,posing a serious threat to the global public health.In Asia,the guidelines from the Korean Liver Cancer Association-National Cancer Center,the Japan Society of Hepatology,and the Chinese Guidelines for Diagnosis and Treatment of Primary Liver Cancer(2024 edition)have significant influence and provide important guidance for the diagnosis and treatment of primary liver cancer.These guidelines,based on their own national condition,background,evidence and clinical practice,exhibit both commonalities and divergences in the imaging diagnosis of liver cancer.This study aims to provide a more comprehensive and scientific reference for clinicians by comparing the specific contents of three guidelines regarding screening,surveillance,imaging diagnosis and staging of liver cancer,thereby promoting the standardized diagnosis and treatment of clinical practice in the primary liver cancer.

Objective:To explore the clinical characteristics and genetic etiology of a child with Spondyloocular syndrome (SOS) in order to enhance the awareness and understanding of this disease.Methods:A 3.5-year-old boy with SOS who had presented at the Department of Medical Genetics of Hunan Children′s Hospital on August 10, 2023 due to the repeated fractures for over 2 years and after binocular cataract surgery was selected as the study subject. Clinical data of his pedigree were collected, and peripheral venous blood samples were collected for the extraction of genomic DNA and subjected to trio-whole exome sequencing. Candidate variants were verified by Sanger sequencing and analyzed with bioinformatic software. This study was approved by the Medical Ethics Committee of Hunan Children′s Hospital (No. KYSQ2022-263).Results:The child had manifested repeated fractures, bilateral bowed femur, osteoporosis, cataract, atrial septal defect, and developmental delay. Ultrasonography has revealed fetal edema, peritoneal effusion, pleural effusion and polyhydramnios. Trio-whole exome sequencing and Sanger sequencing revealed that he has harbored compound heterozygous variants of the XYLT2 gene, namely c. 1103_1104delAG (p.Gln368Argfs*8) and c. 1238_1253delinsA (p.Val413_Pro418delinsGlu), which were inherited from his phenotypically normal father and mother, respectively. Neither variant was reported previously. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG) and recommendations from the Clinical Genome Resource (ClinGen), the c. 1103_1104delAG was predicted as a pathogenic variant (PVS1+ PM2_Supporting+ PP4), whilst the c.1238_1253delinsA was predicted as a likely pathogenic variant (PM4+ PM3+ PM2_Supporting+ PP4). Conclusion:The c. 1103_1104delAG and c. 1238_1253delinsA compound heterozygous variants of the XYLT2 gene probably underlay the pathogenesis in this child. Above finding has enriched the phenotypic and mutational spectrum of SOS, and provided a basis for the clinical diagnosis, treatment, prognosis assessment and genetic counseling for this pedigree.

Objective:To understand the pathogenic situation of hand, foot and mouth disease (HFMD) in Linyi City, and to analyze the gene characteristics of Coxsackievirus A10 complete VP1 region.Methods:The samples of HFMD cases from Linyi City in 2023 were tested for typing and strain isolation, and the VP1 gene of CV-A10 isolate was amplified and sequenced. The obtained sequences were compared with those in the NCBI database, and the phylogenetic tree was constructed for gene characteristics and molecular epidemiological analysis.Results:In 2023, a total of 861 samples of HFMD were collected, and 594 (68.99%) were positive for nucleic acid tests. The male to female ratio of positive cases was 1.56∶1. Children under 5 years old accounted for 81.65%, and the highest incidence season was from June to August (83.84%). CV-A6 was the main pathogen (84.51%), followed by CV-A10 (9.93%). The nucleotide and amino acid homology of VP1 gene sequence among 13 isolates were 93.29%-100.00% and 97.65%-100.00%, respectively. The nucleotide and amino acid homology with AF081300-Kowalik/USA/1950 was lower (75.95%-76.62%, 91.72%-92.41%). The amino acid and nucleotide homology with C2c was the highest (94.28%-96.76%, 98.28%-100.00%), and the genetic distance was the closest (0.04-0.06). Amino acid site variation analysis showed that compared with the prototype strain AF081300-Kowalik/USA/1950, the isolates had more site variation, while only some isolates had I80V, E141K, P147S, T219I, E240K and V261I mutations compared with the representative strain C2c. The genetic evolution tree showed that the isolates were all in the same clade as the C2c representative strains, and they all belonged to the C2c genotype, and the isolates were further divided into two smaller clades.Conclusions:In 2023, CV-A6 was the main pathogen of HFMD in Linyi City, followed by CV-A10. All CV-A10 isolates were C2c genotypes and can be divided into two evolutionary clades. Continuous monitoring and genetic characterization of CV-A10 should be strengthened.

Background::Programmed death 1 (PD-1) blockade plus chemotherapy has become the new first-line standard of care for patients with advanced non-small-cell lung cancer (NSCLC). Yet not all NSCLC patients benefit from this regimen. This study aimed to investigate the predictors of PD-1 blockade plus chemotherapy in untreated advanced NSCLC.Methods::We integrated clinical, genomic, and survival data from 287 patients with untreated advanced NSCLC who were enrolled in one of five registered phase 3 trials and received PD-1 blockade plus chemotherapy or chemotherapy alone. We randomly assigned these patients into a discovery cohort ( n = 125), a validation cohort ( n = 82), and a control cohort ( n = 80). The candidate genes that could predict the response to PD-1 blockade plus chemotherapy were identified using data from the discovery cohort and their predictive values were then evaluated in the three cohorts. Immune deconvolution was conducted using transcriptome data of 1014 NSCLC patients from The Cancer Genome Atlas dataset. Results::A genomic variation signature, in which one or more of the 15 candidate genes were altered, was correlated with significantly inferior response rates and survival outcomes in patients treated with first-line PD-1 blockade plus chemotherapy in both discovery and validation cohorts. Its predictive value held in multivariate analyses when adjusted for baseline parameters, programmed cell death ligand 1 (PD-L1) expression level, and tumor mutation burden. Moreover, applying both the 15-gene panel and PD-L1 expression level produced better performance than either alone in predicting benefit from this treatment combination. Immune landscape analyses revealed that tumors with one or more variation in the 15-gene panel were associated with few immune infiltrates, indicating an immune-desert tumor microenvironment.Conclusion::These findings indicate that a 15-gene panel can serve as a negative prediction biomarker for first-line PD-1 blockade plus chemotherapy in patients with advanced NSCLC.

Objective To investigate the advantages and efficacy of traction with titanium clips in endoscopic submucosal dissection(ESD)for large laterally spreading tumor(LST)in rectum and sigmoid colon.Methods 67 patients with large sigmoid or rectal LST underwent ESD from January 2018 to June 2022 were analyzed retrospectively,including 32 patients in Group A and 35 patients in Group B.Group A was treated with clip-line traction and group B was treated with traditional ESD.The size of lesion,the total operation time,the submucosal dissection time,submucosal dissection rate,submucosal injection number,en bloc resection rate,R0 resection rate,curative resection rate and complications of the two groups were compared.Results LST-G-M was the most common type and villous adenoma was the main pathology in both groups.There were no differences in en bloc resection rate,R0 resection rate and incidence of complications between the two groups.The average size of group A was(13.6±8.4)cm2,significantly larger than that in group B(9.3±4.7)cm2,the total operation time was(42.3±10.3)min in group A,significantly shorter than that in group B(47.9±10.1)min,submucosal dissection time was(30.7±8.2)min in group A,significantly shorter than that in group B(36.1±7.6)min,submucosal injection number was(2.7±1.1)times in group A,significantly less than that in group B(3.5±1.2)times,submucosal dissection rate was(0.4±0.2)cm2/min in group A,significantly faster than that in group B(0.2±0.1)cm2/min,the differences were statistically significant(P<0.05).Conclusion Compared with traditional ESD,clip-line traction can provide a better surgical field and more effective dissection for large LST in rectum and sigmoid colon.

Visual detection is a technique for evaluating the results through visual judgment without relying on complex optical detection systems. It obtains results quickly based on signals, such as visible light, changes in air pressure, and migration distance, that can be directly observed by naked eyes, being widely used in the in vitro diagnostics industry. The CRISPR-Cas system has the potential to be used in the development of point of care testing (POCT) technologies due to the advantages of mild reaction conditions, no need for thermal cycling or other control measures, and a robust signal amplification capability. In recent years, the combination of visual detection and CRISPR-Cas has significantly reduced the need for laboratory infrastructures, precision instruments, and specialized personnel for nucleic acid detection. This has promoted the development of POCT technology and methods for nucleic acids. This article summarizes the signal output modes and characteristics of the visual detection of nucleic acid by CRISPR-Cas and discusses the issues in the application. Finally, its future clinical translation is envisioned with a view to informing the development of CRISPR-Cas visualization assays.
CRISPR-Cas Systems ; Humans ; Nucleic Acids/analysis* ; Point-of-Care Testing

Objective:To investigate the efficacy of an anterolateral femoral chimeric perforator flap combined with vancomycin-loaded calcium sulfate in the treatment of chronic infection after internal fixation of calf fracture with soft tissue defects.Methods:Retrospectively analyzed were the data of 16 patients with chronic infection combined with extensive soft tissue defects after internal fixation of calf fracture who had been admitted to Department of Orthopedics, Shenzhen Hospital Affiliated to Peking University from September 2008 to November 2020. There were 11 males and 5 females, aged from 16 to 62 years (average, 37 years). Infection sites: the upper tibia in 4 cases, the middle and lower tibia in 10 cases, and the middle fibula in 2 cases. According to the Cierny-Mader classification, all patients were anatomical type III and by the host classification, there were 14 cases of type B and 2 cases of type C type. The areas of soft tissue defects ranged from 6 cm × 4 cm to 23 cm × 14 cm. All patients were treated by transplantation of an anterolateral thigh chimeric perforator flap combined with vancomycin-loaded calcium sulfate therapy. At the last follow-up, the curative efficacy was evaluated according to the Paley fracture union scoring.Results:All patients were followed up for 8 to 24 months (mean, 16 months). Complete flap survival was achieved in 15 flaps and partial survival in one. According to the Paley fracture union scoring at the last follow-up, the curative efficacy was evaluated as excellent in 15 cases and as good in one. Both the grafted artificial bone and the tibia and fibula achieved bone union after 6 to 12 months (mean, 8.9 months). Infection with chronic sinus tract pus recurred in one case at post-operative one year. After re-debridement, the infection was controlled and the wound healed. The plate internal fixation was replaced by the unilateral or annular external fixator in 14 patients and retained in 2 patients. The lengths of the bone defects averaged 2.4 cm and the time for the external fixation 10.5 months (from 8 to 14 months).Conclusion:In the treatment of chronic infection after internal fixation of calf fracture with extensive soft tissue defects, the efficacy of an anterolateral femoral chimeric perforator flap combined with vancomycin-loaded calcium sulfate is satisfactory, because the flap can fully cover the bone and soft tissue defects while the vancomycin-loaded calcium sulfate can effectively control the infection.

Objective:To evaluate the clinical value of 5.0 T ultra-high filed MRI system in assessing intracranial arteries segments and vessel branchers.Methods:This study was a prospective study. Totally 40 consecutive healthy volunteers were recruited from Zhongshan Hospital, Fudan University from September 1, 2021 to November 30, and all participants who underwent either 3.0 T or 5.0 T time-of-flight MR angiography (TOF-MRA) in random order were divided into 3.0 T MR group and 5.0 T MR group with 20 volunteers for each group. Image quality was assessed by Likert 5 scoring systems and signal-to-noise ratio (SNR), contrast-to-noise ratio (CNR),and score in visualization of intracranial arteries [middle cerebral artery (MCA) and its segments, anterior cerebral artery (ACA) and its segments, posterior cerebral artery (PCA) and its segments, lenticulostriate arteries (LA) and pontine artery (PA)] were assessed from 0 to 3 (≥2: good depiction of vessel segment). Quantitative indicators were compared between 2 groups using independent t test or Mann-Whitney U test. Results:Among the 40 subjects, there were 29 males and 11 females, aged 20-69 (50±12) years. SNR and CNR were both significantly higher in 5.0 T MR group than those in 3.0 T MR group (SNR: 187±9 vs 91±4, t=31.59, P<0.001; CNR: 156±7 vs 70±4, t=31.45, P<0.001), but there was no significant difference in subjective scores of image quality between the 5.0 T MR and 3.0 T MR groups [5.0 (4.0, 5.0), 5.0 (5.0, 5.0) points, respectively, Z=-1.23, P=0.218]. In the evaluation of cerebral arteries, the visualizations of the proximal and middle segments of MCA, ACA and PCA was better than those in the 3.0 T MR group, and there was no significant difference in the scores ( P>0.05), while the visualizations of proximal arteries in the 5.0 T MR group were significantly better than those in the 3.0 T MR group ( P<0.05). Furthermore, small vessel branches such as LA and PA in 5.0 T MR group were visualized better than those in 3.0 T MR group ( P<0.001). Conclusion:TOF-MRA by ultra-high filed 5.0-T provides an optimal choice in visualization of distal large arteries and small vessel branches, which could be useful for the diagnosis on cerebral vascular disease.