The nuclear factor I（NFI）family is a group of important transcription factors，consisting of four members：NFIA，NFIB，NFIC，and NFIX. The members of the NFI family are highly conserved in the N-terminal DNA binding and dimerization domain. The NFIX gene is expressed in many parts of the body，including the brain，prostate，muscles，skin，fat，and ovaries.It plays an important role in a variety of biological processes，including nervous system development，tumorigenesis，muscle and bone development，hematopoietic cell proliferation，and spermatogenesis.Currently，there are few studies and clinical reports on the NFIX gene in China，and its specific mechanism remains unclear，requiring further investigation. To draw the attention of clinicians and enhance the understanding of NFIX gene associated diseases，this article summarizes recent literature and reviews the function and clinical progress of the gene.

Objective:To investigate the clinicopathological features, immunophenotype, molecular characteristics, and differential diagnosis of primary intracranial DICER1-mutant sarcoma in order to better understand this tumor type.Methods:A retrospective analysis was conducted on 7 cases of primary intracranial DICER1-mutant sarcoma diagnosed in the Department of Pathology, Sun Yat-sen University Cancer Center, Guangzhou, China between 2021 and 2023 using next-generation sequencing. At the same time, 10 gliosarcomas, 4 intracranial FET::CREB fusion-positive mesenchymal tumors, 4 malignant meningiomas, 3 malignant solitary fibrous tumors, 3 malignant peripheral nerve sheath tumors, 3 synovial sarcomas and 3 rhabdomyosarcomas (total 30 cases) were selected as control.Results:Among the 7 patients with primary intracranial DICER1-mutant sarcoma, 6 were male and 1 was female, aged 10-32 years (median, 23 years). The tissue morphology was predominantly spindle or pleomorphic sarcoma-like, with 6 cases exhibiting eosinophilic globules, and 3 cases showing rhabdomyoblastic or rhabdomyosarcoma-like cell differentiation. Immunohistochemistry revealed focal desmin expression in 3 cases (3/7), ATRX loss in 3 cases (3/7), and p53 mutant pattern in 4 cases (4/7). Additionally, 4 cases (4/7) showed focal or diffuse SALL4 expression, whereas the control cases (30 cases) did not exhibit SALL4 protein expression, suggesting that SALL4 may possess certain auxiliary diagnostic value. Next-generation sequencing confirmed that all 7 cases of primary intracranial DICER1-mutant sarcoma harbored mutations in the DICER1 gene, with 5 cases having the mutation site at p.E1813D. Until May 2024, all 7 patients were alive.Conclusions:Primary intracranial DICER1-mutant sarcoma is a rare tumor. Understanding its morphological characteristics, immunohistochemical and molecular markers and differential diagnosis is crucial to avoid misdiagnosis and to improve diagnostic accuracy of this tumor.

Infantile spasms(IS)is an age-dependent severe epilepsy syndrome, mainly treated with hormones and anti-seizure medications.However, due to poor efficacy and even serious side effects among some pediatric patients, searching for better alternative treatment options has become a research hotspot.In recent years, as a special diet treatment, ketogenic diet(KD)has been widely studied and gradually applied to the clinical treatment of IS, which has achieved satisfactory results.This article briefly reviews the KD regimen and mechanism of action, and focuses on the research progress in efficacy, safety and short-term prognosis of KD in the treatment of IS, whose purpose is to provide effective reference for clinical application.

Febrile infection-related epilepsy syndrome is a rare and one of the most serious epileptic encepha-lopathy.It commonly affects school-aged children who are healthy previously and have a normal developmental history.The patients suffer from a progressively worse seizure after several days of a nonspecific prior febrile and abruptly develop status epilepticus.It remains unclear about its etiology and pathogenesis.Although there is a lack of specific biological markers, poor treatment outcomes would usually be achieved, early identification and reasonable treatment may improve the prognosis.

Objective: Cerebrovascular disease can be roughly divided into 2 subtypes: Cerebral ischemia (CI) and cerebral hemorrhage (CH). No scale currently exist that can predict the subtypes of cerebrovascular diseases. This study aims to establish a prediction scale for the subtypes of cerebrovascular diseases. Methods:A total of 1200 cerebrovascular disease patients were included in this study, data from 1081 (90％) patients were used to establish the CI-CH risk scale, and data from 119 (10％) patients were used to test it. Risk factors for the CI-CH risk scale were identified by 2 screens, with two-tailed student ' s t-test and two-tailed Fisher ' s exact test preliminarily and with logistic regression analysis further. The scores of each risk factor for CI-CH risk scale were determined according to the odds rate, and the cut-off point was determined by Youden index. Results: Nine risk factors were ultimately selected for score system, including age (≥75 years old was ?1, <75 years old was 0), BMI (<24 kg/m2 was 0, 24?28 kg/m2 was ?1,>28 kg/m2 was?2), hypertension grade (grade 1 was 1, grade 2 was 2, and grade 3 was 3), diabetes status (no was 0, yes was?1), antihypertensive drug use (no was 0, yes was?2), alcohol consumption (<60 g/d was 1, ≥60 g/d was 2), uric acid (less than normal was 0, normal was?1, high than normal was?2), LDL cholesterol (<2 mmol/L was 0, 2?4 mmol/L was?1, and>4 mmol/L was?2), and HDL cholesterol (<1.55 mmol/L was 0,≥1.55 mmol/L was 2). Patients with a score more than 0 were classified as the CH group, Conversely, they were assigned to the CI group;its sensitivity, specificity, and accuracy were 74.5％, 77.9％, and 76.4％, respectively. Conclusion: The CI-CH risk scale can help the clinician predict the subtypes of cerebrovascular diseases.

Myelin oligodendrocyte glycoprotein(MOG)is expressed in oligodendrocytes of the mammalian central nervous system, which is located on the surface and an important component of the myelin sheath.MOG antibody related inflammatory demyelinating disease is a hot topic in the field of neurology in recent years, and its clinical phenotype spectrum varies.Currently, cell-based assay(CBA)is recommended to detect MOG antibodies in peripheral blood.Due to the complexity and diversity of the clinical manifestations, and different manifestations in different age groups, it is difficult to make the clinical diagnosis.The exact pathogenesis is still unclear, and the therapeutic options and long-term prognosis remain controversial.In this article, the pathogenesis, clinical manifestations, treatment options and clinical prognosis of MOG antibody related inflammatory demyelinating diseases will be reviewed.

Objective:To investigate the clinical and imaging characteristics of liver density changes in patients with initial-treated drug-sensitive secondary tuberculosis during standardized treatment and after withdrawal when cured.Methods:A retrospective analysis was conducted of 34 patients with initial-treated drug sensitive pulmonary tuberculosis in Beijing Chest Hospital of Capital Medical University and the First Affiliated Hospital of Xinxiang Medical University from January 2014 to April 2019. The chest computed tomography (CT) examination and sputum culture were performed before treatment. The patients received the standardized treatment and they were divided into three groups according to the course of treatment (three, nine and 12 months). Liver density and liver function were followed up during treatment (three, six, nine and 12 months) and after drug withdrawal (3, 6 and 12 months). The measurement data were analyzed by t-test. Results:The average liver density of these three groups gradually decreased during the treatment period, and gradually increased after drug withdrawal. There were five and nine cases of fatty liver occurred at three and six months of treatment in the six-month treatment group, respectively; and six, two and zero cases of fatty liver occurred at three, six, and 12 months after drug withdrawal, respectively. There were four, eight and 11 cases of fatty liver occurred at three, six, and nine months of treatment in the nine-month treatment group, respectively; and seven, two and zero cases occurred at three, six, and 12 months after drug withdrawal, respectively.There were five, 10, 14 and 14 cases of fatty liver occurred at three, six, nine and 12 months of treatment in the 12-month treatment group, respectively; and 12, 10 and five cases occurred at three, six, and 12 months after drug withdrawal, respectively. During the course of treatment, the density of livers of some cases decreased unevenly, and the density of right lobe of the liver was lower than the left lobe. The density of left lobe of the liver was (49.8±4.0) HU, (45.0±3.9) HU, (37.0±9.9) HU, (45.3±8.1) HU, (48.4±6.6) HU at the treatment of six, nine and 12 months and drug withdrawal of three and six months, and the density of right lobe of the liver was (44.0±6.1) HU, (37.2±7.7) HU, (25.5±15.8) HU, (38.5±11.7) HU, (43.8±9.9) HU, the differences were statistically significant ( t=4.611, 4.512, 2.307, 2.803 and 2.291, respectively, all P<0.05), while those were not statistically significant among three months of treatment and 12 months after drug withdrawal ( t=1.573 and 1.199, respectively, both P>0.05). There were two cases showed alanine aminotransferase (ALT) and aspartate amiotransferase (AST) accompanied elevated (ALT>2×upper limits of normal (ULN), AST<2×ULN) at three and six months of treatment, with no abnormalities detected of alkaline phosphatase (ALP) and total bilirubin (TBil). Conclusions:The liver density gradually decreases and uneven fatty liver could appear during anti-tuberculosis treatment, but it gradually returns to normal or relieves after drug withdrawal. The degree of fatty liver is not synchronized with the changes of liver function indexes (ALT, AST, ALP and TBil), which belongs to chronic reversible injury.

ObjectiveTo investigate the effect of kaempferol on the proliferation, migration, invasion, and apoptosis of human hepatoma Bel-7402 cells and related molecular mechanism. MethodsHepatoma Bel-7402 cells cultured in vitro were randomly divided into control group and low-, middle-, and high-concentration experimental groups. The experimental groups were treated with low-, middle-, and high-concentration kaempferol (25, 50, and 100 μmol/L), and the control group was treated with an equal volume of dimethyl sulfoxide. CCK-8 assay was used to observe the effect of kaempferol on the viability of Bel-7402 cells; plate colony formation assay was used to evaluate the effect of kaempferol on cell colony formation ability; wound healing assay and Transwell chamber were used to observe the effect of kaempferol on cell migration and invasion; Western blot was used to measure the expression of apoptosis- and cycle-related proteins. A one-way analysis of variance was used for comparison between multiple groups, and the least significant difference t-test was used for further comparison between two groups. ResultsAfter 24 hours of treatment, the cell viability was 100.00%±2.72% in the control group and 75.70%±2.42%, 62.79%±2.45%, and 43.41%±2.11%, respectively, in the low-, middle-, and high-concentration experimental groups, and compared with the control group, the experimental groups had a significant reduction in cell viability (all P＜0.05). The number of cell colonies was 923.3±35.2 in the control group and 682.7±24.4, 464.0±22.0, and 327.3±14.0, respectively, in the low-, middle-, and high-concentration experimental groups, and compared with the control group, the experimental groups had a significant reduction in cell colony formation ability (all P＜0.05). After 24 hours of treatment, the relative migration rate was 100.00%±1.11% in the control group and 63.33%±1.16%, 51.72%±3.23%, and 37.18%±2.71%, respectively, in the low-, middle-, and high-concentration experimental groups, and the number of transmembrane cells was 212.0±3.0 in the control group and 134.0±2.0, 71.0±2.0, and 34.0±1.0, respectively, in the low-, middle-, and high-concentration experimental groups; compared with the control group, the experimental groups had significant reductions in relative migration rate and number of transmembrane cells (all P＜0.05). After 48 hours of treatment, compared with the control group, the low-, middle-, and high-concentration experimental groups had a significant reduction in the expression of the anti-apoptotic protein Bcl-2 (all P＜0.05), a significant increase in the expression of the pro-apoptotic protein Bax (all P＜0.05), and a significant reduction in the expression of C＜italic/＞yclinD1 (all P＜005). ConclusionKaempferol can inhibit the proliferation, migration, and invasion of human hepatoma Bel-7402 cells and promote the apoptosis of such cells, possibly by regulating the apoptosis proteins Bax and Bcl-2 and downregulating the expression of CyclinD1.

To address the increasing need for detecting and validating protein biomarkers in clinical specimens, mass spectrometry (MS)-based targeted proteomic techniques, including the selected reaction monitoring (SRM), parallel reaction monitoring (PRM), and massively parallel data-independent acquisition (DIA), have been developed. For optimal performance, they require the fragment ion spectra of targeted peptides as prior knowledge. In this report, we describe a MS pipe-line and spectral resource to support targeted proteomics studies for human tissue samples. To build the spectral resource, we integrated common open-source MS computational tools to assemble a freely accessible computational workflow based on Docker. We then applied the workflow to gen-erate DPHL, a comprehensive DIA pan-human library, from 1096 data-dependent acquisition (DDA) MS raw files for 16 types of cancer samples. This extensive spectral resource was then applied to a proteomic study of 17 prostate cancer (PCa) patients. Thereafter, PRM validation was applied to a larger study of 57 PCa patients and the differential expression of three proteins in prostate tumor was validated. As a second application, the DPHL spectral resource was applied to a study consisting of plasma samples from 19 diffuse large B cell lymphoma (DLBCL) patients and 18 healthy control subjects. Differentially expressed proteins between DLBCL patients and healthy control subjects were detected by DIA-MS and confirmed by PRM. These data demonstrate that the DPHL supports DIA and PRM MS pipelines for robust protein biomarker discovery. DPHL is freely accessible at https://www.iprox.org/page/project.html?id=IPX0001400000.

In the past 20 years, new anti-epileptic drugs have been constantly developed, but the percentages of patients who suffer from refractory epilepsy have not been significantly decreased.Therefore, to find out a drug that can effectively reduce seizures with relatively fewer side effects has become an urgent issue.In recent years, the treatment of epilepsy based on Cannabis has drawn great public attention.Cannabidiol, which is purified from Cannabis, can relieve refractory epilepsy in children.The present findings of research are summarized in this paper.