Objective To explore the potential causal relationship between 91 inflammatory factors and the risk of lung cancer (LC). Methods By extracting related data of inflammatory factors and LC and its subtypes from public databases of Genome-wide Association Studies (GWAS), bidirectional, repeated, multivariable Mendelian randomization (MR) and subgroup MR methods were used for analysis. The inverse variance weighted method was mainly used for causal inference, and a series of sensitivity analyses were applied to verify the strength of the results. Results Higher levels of CD5, interleukin-18 (IL-18), and oncostatin-M (OSM) were causally associated with a lower risk of LC, while nerve growth factor-β (NGF-β) and S100 calcium-binding protein A12 (S100A12) were associated with an increased risk of LC. Subgroup MR analysis results showed that IL-18 had a causal relationship with a reduced risk of lung adenocarcinoma, while NGF-β and S100A12 had a causal relationship with an increased risk of lung adenocarcinoma; CD5 and OSM had a causal relationship with a reduced risk of lung squamous cell carcinoma; NGF-β had a causal relationship with an increased risk of small cell lung cancer. Conclusion Five inflammatory factors, including CD5, IL-18, OSM, NGF-β, and S100A12 have a causal correlation with the risk of LC, providing potential targets for early screening of LC patients and development of therapeutic drugs.

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.

Purpose Explore the predictive value of nomograms based on enhanced CT radiomics for invasiveness of thymic epithelial tumor.Materials and Methods The clinical and imaging data from 155 cases confirmed with thymic epithelial tumors at the First Affiliated Hospital of Wannan Medical College from January 2015 to January 2023 were retrospectively collected.All cases were randomly divided into training(n=108)and validation(n=47)groups in a 7∶3 ratio.The radiomics features from venous phase images were extracted.The least absolute shrinkage and selection operator algorithm for dimensionality reduction were utilized to establish radiomics labels and calculate the Rad-score.Univariate and multivariate regression analyses were conducted to identify independent risk factors.Imaging feature models,Rad-score and imaging omics clinical combined model were constructed to plot the corresponding nomograms.The diagnostic performance and clinical benefits of the models were evaluated via receiver operating characteristic curves and decision curves.The DeLong test was applied to compare area under the curve differences between models and used calibration curves to assess nomograms calibration.Results 16 optimal image omics features were selected by dimensionality reduction.Logistic regression analysis showed that tumor morphology(OR=2.932,P=0.025),peripheral tissue invasion(OR=11.461,P=0.005)and Rad-score(OR=255.27,P=0.002)were independent risk factors.The area under the curve in the training set and the verification set were 0.852 and 0.831,respectively.Compared with the image feature model and Rad-score in the training set,the differences were statistically significant(Z=3.607,2.270,P<0.05).The threshold probability of the column chart model training set was between 0.08 and 0.88 for clinical benefit.Conclusion The combined model nomograms based on enhanced CT radiomics and clinical features can effectively predict thymic epithelial tumor invasiveness and assist clinicians in formulating precise treatment plans before surgery.

Objective:To report 8 patients of sporadic Creutzfeldt-Jakob disease (sCJD) with real-time quaking-induced conversion (RT-QuIC) positive and analyze their clinical characteristics.Methods:The medical records of patients discharged from Henan Provincial People′s Hospital from January 2018 to May 2021 who were diagnosed with clinically probable sCJD and had RT-QuIC test were retrospectively analyzed. General information (gender, age, initial symptom, main clinical manifestations), accessory examination [brain magnetic resonance imaging (MRI), electroencephalogram, cerebrospinal fluid 14-3-3 protein, prion protein gene, antibodies related to autoimmune encephalitis and paraneoplastic syndrome] were collected. By a telephone-based follow-up survey, data about morality and total duration of course were collected. The patients were divided into two groups according to electroencephalogram, 14-3-3 protein, duration of disease and MRI results, and the differences of fluorescence peak time and fluorescence peak value in RT-QuIC results between groups were compared.Results:Among 8 patients, 7 patients had subacute onset and 1 patient had chronic onset. Main clinical manifestations included progressive cognitive decline (8/8), pyramid sign (5/8), walking instability (4/8), mental and behavior disorder (4/8), myoclonus (4/8), akinetic mutism (4/8), dizziness (3/8), limb shaking (2/8), dysarthria (2/8), visual hallucination (1/8), impaired vision (1/8). All cases had abnormal electroencephalogram and typical periodic sharp slow compound waves (PSWCs) were observed in 5 cases. Brain MRI showed high signal intensity in the cerebral cortex and/or basal ganglia on diffusion-weighted imaging in 7 cases, of which 6 cases involved bilateral basal ganglia. Cerebrospinal fluid 14-3-3 protein was positive in 2 cases, and RT-QuIC was positive in all cases. The fluorescence peak time of RT-QuIC was shorter in patients with PSWCs [(7.617±2.164) h vs (10.602±2.247) h, t=2.84, P=0.010] and high total MRI score [ (7.600±1.907) h vs (9.760±2.457) h, t=2.26, P=0.032]. Conclusions:RT-QuIC detection is a reliable method for early diagnosis of sCJD. RT-QuIC results were related to PSWCs and degree of MRI involvement.

Objective:To summarize the clinical and imaging features of 10 patients with genetically diagnosed neuronal intranuclear inclusion disease (NIID) to avoid clinical misdiagnosis and mismanagement of NIID.Methods:Ten patients with NIID, admitted to our hospital from January 2020 to March 2022, were chosen in our study. All patients were confirmed as having NIID by NOTCH2NLC gene assay. Their clinical data, gene detection results and skin pathological results were collected and anlyzed. Results:These patients aged from 57 to 84 years, including 8 females. The episodic symptoms as main symptoms were noted in 6 patients, including 3 patients with encephalopathy, 1 patient with TGA, 1 patient with stroke-like episode, and 1 patient with migraine-like symptoms. Chronic progressive symptoms as main symptoms were noted in 4 patients, including 3 patients with dementia and 1 patient with Parkinson's disease. There were characteristic linear hyper-intensities in diffusion weighted imaging (DWI) in the corticomedullary junction predominantly in the frontal lobes. White matter lesions appeared in T2 Flair might have been noted years before lesions appeared in DWI, with wider ranges. All had GGC repeated expansion in NOTCH2NLC gene in non-coding area, with mutation number>60. Skin biopsy was performed in 6 patients, showing the formation of intranuclear inclusion bodies in different cells; and ubiquitin and P62 were found positive in immunohistochemical staining. Conclusions:NIID patients have large clinical heterogeneity; most patients have episodic symptoms as main manifestations, often accompanied by chronic progressive symptoms; stroke attack and migraine are rare clinical phenotypes of NIID. The high signal at the cortical medullary junction in DWI is a characteristic imaging change.

Objective:To report the clinical and genetic features of a pedigree with familial encephalopathy with neuroserpin inclusions bodies (FENIB) and to enhance the understanding of the disease.Methods:The proband was admitted to Department of Neurology, Henan Provincial People′s Hospital in June 2020 due to cognitive impairment and epilepsy. Detailed medical history inquiry, physical examinations, and neuroimaging examination of the family were conducted. The proband completed the examination of brain magnetic resonance imaging (MRI), electroencephalogram (EEG), cerebrospinal fluid examinations. Whole exome sequencing and Sanger sequencing were used to screen the genetic variations in the proband. Sanger sequencing was performed in some family members to verify the mutation. Through literature review, the characteristics of the disease were summarized.Results:The proband was a 23-year-old young female with progressive cognitive impairment, epilepsy as the main manifestations. Brain MRI indicated moderate atrophy of bilateral cerebral cortex. Genetic sequencing revealed a heterozygous missense mutation (c.1013A>G; p.H338R) of SERPINI1 gene encoding the neuroserine protease inhibitor protein. The proband′s mother and brother had similar clinical symptoms in adolescence. Both of them passed away several years later. This mutation was a proven pathogenic mutation for FENIB. The clinical phenotype was consistent within the family. Genotype and clinical phenotype were co-segregated.Conclusion:FENIB due to SERPINI1 gene mutations should be considered in young cases of cognitive decline, epilepsy and myoclonus.

Objective:To explore the clinical data and gene mutation of a family of adult-onset autosomal dominant leukodystrophy (ADLD).Methods:The clinical data and neuroimaging features of a family of ADLD (4 generation, 5 patients), admitted to our hospital in January 2020, were retrospectively analyzed. Whole exome sequencing was performed in DNA from peripheral blood of the proband and some family members. Fluorescent quantitative PCR was used to verify the pathogenic genes of the proband and family members.Results:The clinical manifestations included abnormal autonomic dysfunction (transient hypoglycemia and dilated pupil), chronic spastic paraplegia, and movement disorder in the proband and other patients in the family; their neuroimaging features included extensive involvement of the white matter, cerebellar peduncles, corpus callosum, and spinal cord. A duplication of 1-11 coding exons in the LMNB1 gene was identified in the proband. Fluorescent quantitative PCR verified that duplication of 1, 5 and 11 coding exons in the LMNB1 gene was identified in the proband and 2 sisters. Conclusion:The duplication of 1-11 coding exons in the LMNB1 gene can cause ADLD, and the clinical manifestations, neuroimaging and genetic characteristics should be comprehensively analyzed in the diagnosis of ADLD .

Objective:To explore the expression and clinical significance of miR-143 in papillary thyroid cancer (PTC) .Methods:Tumor samples and adjacent tissues from 52 patients with PTC were obtained from Jan. 1st, 2018 to Mar. 31st, 2018 in Thyroid Surgery Department of the Affiliated Yantai Yuhuangding Hospital of Qingdao University. Quantitative reverse-transcriptase PCR (RT-qPCR) was used to measure the expression of miR-143 in those subjects. In addition, the relationship between the expression levels of miR-143 and the clinicopathological characteristics was analyzed.Results:RT-qPCR indicated that the expression of miR-143 was down-regulated in PTC, which was significantly lower than that in adjacent tissues ( t=-21.39, 95% CI: 18.20-15.07, P<0.001) . Low expression of miR-143 was related to the number of lymph node metastasis ≥3 in central compartment ( t=10.13, P=0.012) and lateral neck lymph node metastasis ( t=-4.67, P<0.001) . Conclusion:Downregulation of miR-143 in PTC is linked to the metastasis of PTC and may be a potential target for therapeutic intervention.

Objective:To explore the clinical significance of recurrent laryngeal nerve inlet zone(RLNIZ) lymph node metastasis in papillary thyroid cancer(PTC).Methods:The clinical data of the clinicopathologic characteristics of 738 cases with papillary thyroid cancer at our centers from Jul 2017 to Jun 2018 was retrospectively reviewed. 108 cases with RLNIZ lymph node dissection for pathological examination were included. The relationship between metastasis of RLNIZ lymph node and clinicopathologic characteristics was analyzed.Results:RLNIZ lymph node was detected in 12.3%(91/738)cases, the mean lymph node number in RLNIZ was 1.5±0.7, and 30.8%(28/91) cases suffered RLNIZ lymph node metastasis. RLNIZ lymph node metastasis(LNM) is associated with tumor size( P=0.028), capsular invasion( P=0.019), No. of central compartment LNM( P<0.001) and lateral neck LNM( P<0.001). No. of central compartment LNM was found to be the independent risk factor of RLNIZ lymph node metastasis. The incidence of dysphagia and inferior parathyroid damage was 0.9%(1/108)respectively. Conclusions:RLNIZ lymph node metastasis is common among PTC patients , therefore, RLNIZ lymph node should be routinely removed especially in patients with tumor size over 1cm、suspected capsular invasion and lateral neck lymph node metastasis confirmed by preoperative imaging examination.