Objective:To evaluate the nutritional status of patients with decompensated liver cirrhosis and explore the correlation with malnutrition and the risk factors of depressed mood.Methods:190 cirrhotic patients admitted to the Department of Gastroenterology of the First Hospital of Shanxi Medical University from June to September 2023 were selected according to the inclusion and exclusion criteria. Eligible patients were divided into subgroups based on the presence or absence of malnutrition as determined by subjective global assessment (SGA). The Center for Epidemiological Studies Depression (CES-D) scale was used to assess patients' propensity for depressed mood. Relevant clinical data were also collected and analyzed.Results:A total of 185 patients were included, of which 126 were in the non-malnutrition group and 59 malnutrition group. There were significant between-group differences in terms of CES-D results, age, body mass index, platelets, D-dimer, serum sodium, third lumbar skeletal muscle index, grip strength, triceps skinfold thickness, and upper arm muscle circumference (all P<0.05). Correlation analysis showed that grip strength, triceps skinfold thickness, upper arm muscle circumference, serum sodium, and depressed mood tendency status were correlated with the development of cirrhotic malnutrition ( P<0.05). The diagnostic model for malnutrition in cirrhosis using these five indicators showed the area under the curve of 81.9%. Conclusions:Depression is closely related to the development of malnutrition in patients with liver cirrhosis. Independent risk factors for malnutrition in cirrhosis include serum sodium≤135 mmol/L, grip strength, triceps skinfold thickness, lower-than-normal upper arm circumference , and the tendency of depression , which demonstrate the combined contribution to the diagnosis of malnutrition in cirrhosis.

Objective:To analyze the clinical manifestations and explore the etiology in a family with congenital aniridia and to analyze the influence of candidate variants on the protein structure.Methods:A pedigree investigation was performed.A Han Chinese family with congenital aniridia of two generations consisting of three members from Henan Province, including one patient diagnosed with congenital aniridia, was identified and studied following their admission to Henan Eye Hospital in June 2023.A thorough medical history was obtained for the patient and their family members.Comprehensive ophthalmologic examinations were conducted, including visual acuity, intraocular pressure, anterior segment photography, color fundus photography, ultrasound biomicroscopy, and optical coherence tomography, etc.Peripheral blood samples were obtained from the family members and whole exome sequencing (WES) was performed on the patient and validated by Sanger sequencing for other members.The pathogenicity and protein structure of newly identified variant sites were analyzed.This study adhered to the Declaration of Helsinki.The study protocol was approved by the Ethics Committee of Henan Eye Hospital (No.HNEECKY-2023[06]).Written informed consent was obtained from each subject.Results:The proband is a 23-year-old male presenting with poor binocular vision, aniridia, corneal degeneration, mild lens opacity, shallow anterior chamber, elevated intraocular pressure, peripheral retinal degeneration, and macular dysplasia.The clinical phenotype of the proband's parents did not show any significant abnormality.WES identified a heterozygous frameshift and nonsense varint c. 734_735del (p.Arg245Asnfs*20) in exon 10 of the PAX6 gene, which consisited of two bases deletion at positions 734 to 735, resulting in the mutation of its arginine at position 245 to asparagine and the early appearance of a termination codon at the next 19 amino acids.The variant had not been identified in the HGMD, Clinvar, 1 000 Genomes, and gnomAD databases.Neither of the proband's parents carried the variant, consistent with the pattern of family co-segregation.Substructural analysis using the SMART tool indicated that the variant is situated within the HOX domain.Amino acid conservation analysis demonstrated that the arginine residue at position 245 in the PAX6 gene is highly conserved across multiple species, including human, house mouse, domestic dog, African clawed frog, and macaque.The variant was classified as pathogenic (PVS1+ PS2+ PM2+ PP3) based on the ACMG standards and guidelines for the interpretation of sequence variants.Protein structure analysis revealed the absence of both the homologous domain and the proline-serine-threonine-rich domain in the PAX6 protein. Conclusions:A novel pathogenic variant, c.734_735del (p.Arg245Asnfs*20), in the PAX6 gene has been identified in a family affected by congenital aniridia.This variant results in the deletion of both the PAX6 protein homology domain and the proline-serine-threonine-rich domain.

Objective:To analyze the change of differential genes and signaling pathways in high glucose induced BV2 cells, and to explore the mechanism of transgelin-2 (TAGLN2) regulating cellular inflammatory response and metabolic process.Methods:An experimental study. The cultured BV2 cells were divided into mannitol treatment (Man) group, glucose treatment (Glu) group, overexpression control Glu treatment (Con) group, overexpression TAGLN2 Glu treatment group, silence control Glu treatment (shCon Glu) group, and silence TAGLN2 Glu treatment (shTAGLN2 Glu) group. Cells in the Man group were cultured in modified Eagle high glucose medium (DMEM) containing 25 mmol/L mannitol and 25 mmol/L glucose, cells in other groups (Glu group, Con Glu group, TAGLN2 Glu group, shCon Glu group and shTAGLN2 Glu group) were cultured in DMEM medium containing 50 mmol/L glucose. After 24 hours of cells culture, transcriptome sequencing of cells in each group were performed using high-throughput sequencing technology, and significantly differentially expressed genes (DEG) were screened. |log 2 (fold change)|≥1 and P≤0.05 were adopted as criteria to screen for DEG. Gene Ontology (GO) function enrichment analysis, Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway enrichment analysis and protein-protein interaction network analysis were performed. Real-time polymerase chain reaction (RT-PCR) was used to detect the relative expression level of DEG mRNA. The data between groups were compared by independent sample t-test. Results:When compared with Man group, a total of 517 differentially expressed genes were screened in Glu group, which including 277 up-regulated genes and 240 down-regulated genes. KEGG pathway enrichment analysis showed that the up-regulated genes were significantly enriched in immune system processes such as nuclear factor (NF)-κB signal pathway, Jak-signal transducers and activators of transcription (STAT) signal pathway, while down-regulated genes were significantly enriched in glycosaminoglycan degradation and glyceride metabolic pathway. Compared with Con Glu group, a total of 480 DEG were screened in TAGLN2 Glu group, among which 147 up-regulated and 333 down-regulated genes were detected. Up-regulated genes were significantly enriched in the metabolic processes of fatty acid, glyceride and pyruvate, while down-regulated genes were significantly enriched in immune system processes such as NF-κB signal pathway, Jak-STAT signal pathway and tumor necrosis factor (TNF) signal pathway. Compared with shCon Glu group, a total of 582 DEG were screened in shTAGLN2 Glu group, among which 423 up-regulated and 159 down-regulated genes were detected. Up-regulated DEG were significantly enriched in immune system processes such as TNF signal pathway and chemokine signal pathway, while down-regulated DEG were significantly enriched in pattern recognition receptor signal pathway. RT-PCR results showed that the relative expression levels of DEG mRNA Card11 ( t=13.530), Icos ( t=3.482), Chst3 ( t=6.949), Kynu ( t=5.399), interleukin (IL)-1β ( t=2.960), TNF-α ( t=5.800), IL-6 ( t=3.130), interferon-γ ( t=7.690) and IL-17 ( t=6.530) in the TAGLN2 Glu treatment group were decreased significantly compared with Con Glu group, and the difference was statistically significant. Conclusion:TAGLN2 can inhibit glucose induced microglia inflammation by NF-κB and Jak-STAT signaling pathways, Card11, Icos, Chst3 and Kynu play an important role in the anti-inflammatory process of TAGLN2.

Objective:To observe the efficacy of pars plana vitrectomy (PPV) in the treatment of different types of chorioretinal coloboma with retinal detachment (RD).Methods:A single-center, retrospective clinical study. From April 2021 to March 2023, 24 eyes of 23 patients who were diagnosed as chorioretinal coloboma with RD in Henan Provincial Eye Hospital were included in this study. There were 11 males with 12 eyes and 12 females with 12 eyes. The mean age was (33.3±13.7) years old. Best corrected visual acuity (BCVA), spectral domain optical coherence tomography were performed. The BCVA examination was performed using a international standard logarithmic visual acuity chart, which was converted into logarithm of the minimum angle of resolution (logMAR) visual acuity during statistics. According to the types of chorioretinal coloboma, the affected eyes were divided into the coloboma involved the optic disc group and the coloboma not involved the optic disc group, with 15 eyes and 9 eyes. According to whether the RD containing the coloboma area, the affected eyes were divided into RD containing the coloboma area group and the RD not containing the coloboma area group, with 15 eyes and 9 eyes. All eyes underwent standard pars plana three-channel 25G PPV, retinal laser photocoagulation combined with silicone oil tamponade. The follow-up time after surgery was (19.5±16.3) months. The last follow-up was the time point for efficacy determination. The retinal reattachment, BCVA recovery and postoperative complications were observed. Paired t-test or t test was performed for comparison of quantitative data. Fisher's exact test was performed for comparison of qualitative data. Results:At the last follow-up, retinal reattachment was achieved in 20 eyes (83.3%, 20/24). The logMAR BCVA of the coloboma involved the optic disc group before and after surgery were 1.85±0.62 and 1.71±0.71, the difference was no significant ( t=0.845 , P=0.412). The logMAR BCVA of the coloboma not involved the optic disc group before and after surgery were 1.75±0.45 and 0.84±0.26, the difference was statistically significant ( t=6.153 , P<0.001). The improvement of BCVA in the coloboma not involved the optic disc group was significantly higher than that in the coloboma involved the optic disc group after surgery, with statistically significant differences ( t=3.024 , P=0.006). There was no significant difference in the retinal reattachment rate between the two groups ( P=0.615). There was no significant difference in the retinal reattachment rate between the RD containing the coloboma area group and the RD not containing the coloboma area group ( P=0.259). Postoperative complications included elevated intraocular pressure in five eyes, cataract progression in ten eyes, recurrent RD in two eyes, bullous keratopathy in one eye and band-shaped keratopathy in one eye. Conclusion:PPV combined with silicone oil tamponade is safe and effective in the treatment of chorioretinal coloboma with RD, the improvement of visual acuity in the coloboma not involved the optic disc group is better than that in the coloboma involved the optic disc group after surgery.

Posterior vitreous detachment (PVD), retinal breaks, and lattice degeneration are common problems in ophthalmic clinical practice, which not only cause disturbance to patients' life-quality, but also increase the risk of retinal detachment and vitreoretinal traction.In September 2019, the American Academy of Ophthalmology published Posterior Vitreous Detachment, Retinal Breaks, and Lattice Degeneration Preferred Practice Pattern (PPP). Based on clinical evidence, this PPP provides authoritative guidance for the definition, epidemiological background, diagnosis and treatment of these diseases.This PPP also gives definite solution for treatment and follow-up of different sub-types.This article provides introduction and interpretation of this PPP.

Objective To investigate the effects of T-type calcium channel inhibitors (ProTx-1,micromolar Ni2+ and Mibefradil) on Monocrotaline (MCT)-induced pulmonary arterial hypertension (PAH) in rats.Methods Forty male Sprague-Dawley rats were randomly divided into 5 groups:normal control group,MCT group,ProTx-1 group,micromolar Ni2+ group and Mibefradil group (8 cases in each group).The right ventricular systolic pressure (RVSP),the right ventricular hypertrophy index (RVHI),and the index of pulmonary vascular remodeling(MA％) were measured on day 28 after MCT-treatment.Western blot was used to detect the expression of proliferating cell nuclear antigen(PCNA) and Cleaved Caspase-3 in pulmonary artery.Results (1)RVSP and RVHI in MCT group were significandy higher than those in the other 4 groups (F =21.55,P ＜ 0.01;F =15.63,P ＜ 0.01).The two indexes in 3 intervention groups were higher than those in normal control group (all P ＜ 0.05),nevertheless,significantly lower than those in MCT group,and 3 intervention groups showed no significant differences (all P ＞ 0.05).(2) MA％ in normal control group [(23.43 ± 1.95) ％] was lower than that in MCT group [(80.42 ± 4.30) ％],ProTx-1 group [(60.35 ± 3.83)％],micromolar Ni2+ group[(62.44 ± 3.81)％] and Mibefradil group[(58.66 ± 4.23)％] (F =216.2,P ＜ 0.01);3 intervention groups showed no significant differences (all P ＞ 0.05),however,they were all significantly lower than that in MCT group.(3) The expression of PCNA in MCT group was higher than that in normal control group,meanwhile,3 intervention groups were significantly lower than that in MCT group.The expression of Cleaved Caspase-3 in MCT group was higher than that in normal control group,nevertheless,3 intervention groups showed no significant changes compared with MCT group,respectively.Conclusions T-type calcium channel inhibitors could ameliorate the progression of MCT-PAH in rats,mainly through suppressing the proliferation of pulmonary artery smooth muscle cells.

Objective Few reports are seen on the methods of establishing the rabbit model of pancreatic cancer .This study was to compare the effect of Panc-1 cell suspension orthotopic implantation with that of VX-2 tissue orthotopic implantation in construc-ting the rabbit model of pancreatic cancer . Methods Using the random number table method , we divided 30 healthy rabbits into a tissue suspension group ( n=15) and a cell suspension group ( n=15) , VX-2 tissue suspension employed for in-situ implanting in the former group and panc-1 cell suspension utilized in the latter .Then we evaluated the two modeling methods by B-ultrasonography , 3.0T MRI, and CT. Results In the third week after modeling , transpla-ntive metastasis of lots of tumor tissues was observed in the duode-num, colon, appendix, and peritoneal wall in 5 rabbits of the tissue suspension group , but only in the greater omentum of 3 rabbits in the cell suspension group , with high signals of MR T 2 in the posterior gastric body .One case of duodenal metastasis was seen in the cell suspension group , with slightly high signals of MR LAVA in the posterior gastric body .The model of pancreatic cancer was successfully established in all the 15 rabbits of the tissue suspension group , but only in 3 of the cell suspension group .The success rate of tumor im-planting at 3 and 4 weeks was significantly higher in the former ( 46.66%and 100%) than in the latter group ( 6.67%and 20.00%) (P<0.05). Conclusion VX-2 tissue orthotopic implantation is a more feasible and convenient method than Panc -1 cell suspension orthotopic implantation for establishing the rabbit model of pancreatic cancer .

Objective To explore the application value of magnetic resonance molecular functional imaging diffusion weighted imaging(DWI) in the identification of pancreatic carcinoma and mass-type pancreatitis of animal model.Methods Each 8 cases of laboratory pancreatic head transplantation tumor model,chronic mass-type pancreatitis model and normal rabbits were selected and performed the MR DWI molecular functional imaging,the b values were 333,667,1 000 s/mm2 respectively.The apparent diffusion coefficients(ADC) of pancreatic carcinoma model,mass-type pancreatitis model and normal pancreas under different b values were observed.Then the change situation of ADC values of pancreatic carcinoma model,mass-type pancreatitis model and normal pancreas under different b values and difference of ADC(DADC) was analyzed.Moreover the differences in molecular diffusion,tissue perfusion among various groups were observed.Results Throughout the study period,the mortality rate of pancreatic head transplantation tumor model was 50%;the mass-type pancreatitis model and 8 normal rabbits were normally survival.The ADC value of pancreatic carcinoma under the same b value was significantly lower than that of chronic inflammation and normal pancreas area.The ADC value in each group was decreased with the increase of b value,and there was significant difference in ADC value when the b value was 333 s/mm2(F=6.662,P=0.014),in the pairwise comparison among groups,the difference between pancreatic cancer and pancreatitis (t=6.773,P=0.003) and between pancreatic cancer and normal pancreas(t=5.883,P=0.016) had statistical significance (P<0.05).The b value was increased,DADC was smaller,the difference change of DADC between pancreatic cancer area and chronic pancreatitis mass area,between pancreatic cancer area and normal pancreatic head area had statistical significance (P<0.05).Conclusion Rationally selecting the molecular functional imaging DWI technology of b value can better distinguish pancreatic cancer from mass-type pancreatitis,which may be promoted and applied in the evaluation of animal pancreatic head cancer model.

AIM:To investigate the effect of N-[N-(3,5-difluorophenacetyl)-L-alanyl]-S-phenylglycine t-butyl ester (DAPT) on the Notch signaling pathway in a model of oxidized low-density lipoprotein (ox-LDL)-induced human umbilical vein endothelial cell (HUVEC) damage.METHODS:HUVECs were divided into control group, ox-LDL group, DAPT group and ox-LDL+DAPT group.The morphological changes of the HUVECs with different treatments were observed under light microscope.The viability of the HUVECs was measured by CCK-8 assay.The protein expression levels of Notch1, Notch4 and Jagged1 were determined by Western blot.RESULTS:ox-LDL induced great damage to the HUVECs, evidenced by increased cell death and debris in the culture.However, the cell damage was abolished by adding DAPT into the culture.The viability of the HUVECs was increased by co-treatment with DAPT and ox-LDL.ox-LDL treatment significantly decreased the protein expression levels of Notch1 and Jagged1, and elevated Notch4.However, these changes were totally reversed by DAPT.None of these proteins showed significant change in the HUVECs co-treated with DAPT and ox-LDL as compared with control group.CONCLUSION:ox-LDL is able to induce HUVEC damage in vitro.DAPT attenuates ox-LDL-induced damage in the HUVECs by regulating the Notch signaling pathway.

Objective To assess the cardiopulmonary exercise testing (CPET) derived performance of oxygen uptake and ventilation efficiency parameters,including oxygen uptake efficiency plateau (OUEP),oxygen uptake efficiency slope (OUES),(V)E/(V)CO2 slope and lowest (V)E/(V)CO2,in patients with end-stage chronic heart failure(CHF) and evaluate their clinical value on monitoring cardiac function and hemodynamic status.Methods A total of 26 end-stage CHF patients considered for heart transplantation were enrolled in this study.CPET,echocardiography and invasive hemodynamic examinations with Swan-Ganz flowing balloon catheter were performed.Correlation analysis was made between oxygen uptake and ventilation efficiency parameters from CPET and echocardiographic and hemodynamic parameters.Results OUEP and OUES showed good correlation with peak oxygen consumption (peak (V)O2) (r =0.535,P ＜ 0.01 ; r =0.840,P ＜ 0.001).In end-stage CHF patients,the slope of OUEP with respect to peak (V)O2 is about 32,but the slope of OUES with respect to peak (V)O2 is only about 2.The difference was 16 times.The change of OUEP was more sensitive and significant than those of OUES and peak (V)O2 (P ＜ 0.05).OUEP,peak (V)O2 (％ pred),(V)E/(V)CO2 slope and lowest (V)E/(V)CO2 were all correlated well with non-invasive hemodynamic parameters peak cardiac output (r=0.535,P＜0.01; r=0.652,P＜0.001; r=-0.640,P＜0.001 ; r=-0.606,P=0.001 respectively) and peak cardiac index (r =0.556,P＜0.01;r =0.772,P ＜0.001; r =-0.641,P ＜ 0.001 ; r =-0.620,P ＜ 0.001 respectively) derived from CPET,but not correlated with invasive hemodynamic parameters cardiac output and cardiac index at rest (P ＞0.05).Both peak (V)O2 (％ pred) and (V)E/(V)CO2 slope were significantly correlated with invasive hemodynamic parameters systolic pulmonary arterial pressure (r =-0.424,P ＜ 0.05 ; r =0.509,P ＜ 0.01) and mean pulmonary arterial pressure (r=-0.479,P＜0.05; r=0.405,P＜0.05).Peak (V)O2(％pred)was also significantly correlated with pulmonary capillary wedge pressure (r =-0.415,P ＜ 0.05),and (V)E/(V)CO2 slope was significantly correlated with pulmonary vascular resistance (r =0.429,P ＜ 0.05).Conclusions The oxygen uptake and ventilation efficiency parameters derived from CPET,including peak (V)O2,OUEP,lowest (V)E/(V)CO2 and (V)E/(V)CO2 slope etc,are objectively monitoring and evaluating cardiac function and hemodynamic status.And they are useful for optimizing clinical management of patients with end-stage CHF.