Objective To investigate the role of autophagy in radiation-induced death process of human esophageal squamous carcinoma Eca-109 cells.Methods Esophageal carcinoma cell line Eca-109 was divided into 6 groups of control,5 mmol/L 3-Methyladenine treatment,10 mmol/L treatment,6 Gy irradiation,irradiation + 5 mmol/L drug,and irradiation + 10 mmol/L drug.Some cells were transferred with GFP-LC3 plasmid and the changes of autophagosome were obserred.After each treatment,the expression of autophagy marker LC3B was measured by Western Blot,cell viability was detected by MTT,morphological characteristics of apoptosis cells were stained with a fluorescein of Hoechst 33342 and the percentage of apoptotic cells and cell cycle distribution were measured by flow cytometry.Clonogenic survival were used to evaluate the cell radiosensitivity.Results Autophagy level was increased after radiation,and the LC3B Ⅱ expression and LC3B Ⅱ/LC3B Ⅰ ratio were significantly decreased by autophagy inhibitor 3-Methyladenine (F =25.64,P ＜ 0.05).The number of autophagosome fluorescent foci were significantly increased in the GFP-LC3 transfected cells after radiation,but reduced by 3-Methyladenine (F =127.36,P ＜ 0.05).Compared with radiation alone group,autophagy inhibition combined with radiation significantly decreased cell viability (F =129.54,P ＜ 0.05) and colony formation,increased apoptosis and the percentage of G2/M-phase cells.Conclusions 3-Methyladenine enhances the radiosensitivity of esophageal squamous carcinoma Eca-109 cells,suggesting that inhibition of autophagy could be used as an adjuvant treatment of radiotherapy in esophageal squamous carcinoma.

The present study identified chemical constituents of Honghua Xiaoyao Tablet (HXT) and explored its biological connotation and characteristics on the premenstrual syndrome (PMS) treatment from the "disease-syndrome-symptom" association network. UHPLC-Q Exactive Orbitrap HRMS technology was applied to analyze the chemical constituents in HXT. According to the composition principles, the compatible herbs of HXT were divided into the Shugan Jieyu group, Huoxue Tiaojing group and Yiqi Jianpi group. The candidate targets of the corresponding prescriptions of HXT efficacy groups were collected from the Pharmmapper database and Integrative Pharmacology-based Research Platform of Traditional Chinese Medicine (TCMIP) v2.0. The gene set related to the clinical symptoms included in Traditional Chinese and Western Medicine diagnosis and treatment standards were obtained from SoFDA, GeneCards, DisGeNET, MalaCards and literature published. The "HXT candidate targets-PMS (liver depression, Qi stagnation, and blood stasis syndrome) genes" network was constructed based on the gene interaction information, and further, the core network targets were screened out by topological characteristics of calculating network, and the functional exploration was carried out based on Kyoto Encyclopedia of Genes and Genomes (KEGG) for exploring the therapeutic advantages in PMS treatment of HXT efficacy groups, which were further verified experimentally in vitro. A total of 109 components from HXT were identified, including 20 components from Shugan Jieyu group enriched in the neurological system, estrogen regulation, and "immune-inflammation" related pathways, 77 components from Huoxue Tiaojing group enriched in the blood-circulation system, "immune-inflammation" and estrogen regulation related pathways and 30 components from Yiqi Jianpi group regulating immune inflammation, digestive system, and hormone levels. The biochemical indicator detection demonstrated that both the levels of 5-HT and DA in the hypothalamus tissues and the levels of E₂, NO, VEGF and RLN in the uterine tissues of PMS model rats were lower than those in controls, which the levels of OT, PROG, IL-6, IL-1β and TNF-α in the uterine tissues were increased in PMS group, which were all reversed by the administration of HXT, indicating that this prescription may regulate the synthesis and secretion of estrogen, intervene in neurotransmitter synthesis and signal transduction, reverse the imbalance of "immune-inflammation", and regulate digestive system function through various biological pathways, exerting the liver-smoothing, Qi-regulating, blood-activating and spleen-tonifying comprehensive effects, leading to alleviating the "neuroendocrine-endocrine-immune" system and blood-circulation disorders. The relevant results may provide a reference for clarifying the advantages and efficacy of HXT in treating PMS with liver stagnation, Qi stagnation, and blood stasis syndrome, and exploring its therapeutic advantages. The animal experiment of this study was approved by the Ethics Committee of the Institute of Chinese Materia Medica, China Academy of Chinese Medical Sciences (approval number: 2023B248).

Objective:To observe and analyze the clinical features, treatment methods and efficacy of patients with retinopathy associated with incontinentia pigmenti (IP).Methods:A retrospective case study. Twelve clinical confirmed IP patients (24 eyes) in Zhongshan Ophthalmic Center of Sun Yat-sen University from January 2015 to December 2018 were included in this study. The best corrected visual acuity and intraocular pressure examination were performed in patients (>4 years old). All patients were examined on the anterior segment, vitreous body, and fundus under topical anesthesia or general anesthesia. Eight cases underwent genetic testing. Patients with active disease should be given anti-vascular endothelial growth factor (VEGF) drug treatment, retinal laser photocoagulation or vitrectomy, those without active disease should be observed. All patients were followed up for 1 to 3 months, with an average follow-up time of 18.7 months.Results:All patients were all female, with an average age of 6.3±9.8 years old at the first ophthalmology visit. According to the recommendations of the pediatrician, 3 cases were actively screened for ophthalmology (referrals), with an average age of 0.4±0.5 years (median age: 2 months). A total of 9 cases were not recommended for referrals (non-referrals), including 3 cases of ophthalmology who were diagnosed for the first time due to visual impairment, and 6 cases of undiagnosed IP before the ophthalmology visit, the average age of their first visit was 8.2±10.8 years (medium age: 3 years old). The age of the first visit for non-referred patients was larger than that of referrals, and the difference was statistically significant ( Z=-2.141, P=0.036). Among the 24 eyes of 12 cases, there were no obvious fundus abnormalities in 1 case or 2 eyes, 11 cases of IP-related retinopathy in 22 eyes (91.7%, 22/24), 8 cases of binocular asymmetry (66.7%, 8/12). There were active lesions on the fundus in 7 eyes (29.2%, 7/24). Patients underwent simple retinal laser photocoagulation and/or anti-VEGF drug therapy. During the follow-up, retinal neovascularization recurred in 1 eye. Among the 8 cases that underwent genetic testing, 3 cases (37.5%, 3/8) were deleted in exons 4-10 of the IKBKG gene. Conclusions:IP is more common in women. IP-associated retinopathy is noted with early-onset, asymmetrical retinopathy, which is identified with retinal neovascularization and vitreous proliferation. Early detection and timely treatment are essential.

Objective To investigate the long-term efficacy of PEG-IFN alpha-2a (PEG-IFNα-2a)plus ribavirin (RBV)in treatment of chronic hepatitis C (CHC)patients with IL28B single nucleotide polymorphisms (SNPs)rs12979860 C/C type in different HCV genotypes.Methods A prospective study was conducted on 38 CHC patients from our hospital's Infection Department from March 2011 to September 2015.The patients were treated with PEG-IFNα-2a/RBV for 48 weeks.A 42-month follow-up of patients was performed after withdrawal of treatment.The main paramenters to value the efficacy were liver function,blood lipids,and sustained virological response (SVR).Results In the CHC patients with IL28B SNP rs12979860 C/C type,the rate of SVR in patients with antiviral therapy had no significant difference between groups 1b and 2a (73.33% and 95.65%,respectively, P＞0.05).After anti-HCV therapy,liver function indices such as ALT,AST,TBIL,TC,TG and HDL all significantly improved in the two groups (all P＜0.05).However,there was no difference in biochemical indices (ALT,GGT,bilirubin,blood lipids)between the two groups (all P＞0.05).Conclusion In CHC patients with IL28B SNP rs12979860 C/C type,the long-term efficacy of PEG-IFNα-2a/RBV is good.IFN-based antiviral therapy has a higher SVR rate,and liver function and lipid metabolism can be significantly improved.

OBJECTIVETo investigate the clinical symptoms and potential mutation in FGFR3 gene for a family featuring hereditary dwarfism in order to attain diagnosis and provide prenatal diagnosis.

METHODSFive patients and two unaffected relatives from the family, in addition with 100 healthy controls, were recruited. Genome DNA was extracted. Exons 10 and 13 of the FGFR3 gene were amplified using polymerase chain reaction (PCR). PCR products were sequenced in both directions.

RESULTSAll patients had similar features including short stature, short limbs, lumbar hyperlordosis but normal craniofacial features. A heterozygous mutation G1620T (N540K) was identified in the cDNA from all patients but not in the unaffected relatives and 100 control subjects. A heterozygous G380R mutation was excluded.

CONCLUSIONThe hereditary dwarfism featured by this family has been caused by hypochondroplasia (HCH) due to a N540K mutation in the FGFR3 gene.

Base Sequence ; DNA Mutational Analysis ; Dwarfism ; genetics ; Exons ; Female ; Heterozygote ; Humans ; Male ; Mutation ; Receptor, Fibroblast Growth Factor, Type 3 ; genetics

Objective To explore the effect of family support service intervention on improving the rehabilitation of patients with severe mental disorders in community and the mental health status and family burden of family members. Methods Using multi-stage random sampling method, 100 patients who met the diagnostic criteria of severe mental disorders were randomly selected from two communities, and then 100 patients who met the diagnostic criteria of severe mental disorders were randomly matched according to gender, age and diagnosis in other communities into the control group. The control group and intervention group were set up strictly according to the inclusion criteria of patients and their families. Results The average age of the 200 groups was (48.27±12.67) years, and the average age of the family members was (63.61±13.19) years. After intervention, the activity dailyliving scale (ADL) scores of the control group were higher than those of the intervention group at all time points (all P<0.05). After intervention, the social disability screening schedule (SDSS) scores of the control group were higher than those of the intervention group at all time points (all P<0.05). After intervention, there was no significant difference in the morningside rehabilitation status scale (MRSS) score between the intervention group and the control group at all time points (all P>0.05). After intervention, the SCL-90(self-reporting inventory) scores of the mental health of the family members in the control group were higher than those in the intervention group at all times (all P<0.05). After intervention, the family burden scale of diseases (FBS) scores of the control group were higher than those of the intervention group at all time points (all P<0.05). Conclusions The intervention measures did improve the rehabilitation effect of severe mental disorder patients in community and the psychological and family burden of family members. A professional family support service team should be established.

Aim To construct a lentiviral vector for stable delivery of the connexin32 (Cx32) gene in human hepatocellular carcinoma cell line Huh7,and also to detect its effect on cell proliferation.Methods Human Cx32 gene sequence was obtained by whole gene synthesis and amplified by PCR,and was then inserted into LV5-GFP lentiviral vector to construct the recombinant plasmid LV5-GFP-hCx32.Following identified by restriction endonuclease digestion and DNA sequencing,this plasmid together with lentiviral package plasmid was transfected into 293T cells to produce the lentiviral particles,and the viral titer was assessed under fluorescent microscope.Targeted Huh7 cells were infected with the lentivirus (LV5-hCx32 and LV5-NC),and the infected cells after selection with puromycin were amplified and cultured.The expression and localization of Cx32 were detected by real-time RT-PCR,Western blot and immunofluorescence assay,respectively.The gap junction (GJ) function between adjacent cells was measured by dye transfer assay.The Huh7 cell proliferation capacity was determined by MTT and colony formation assays.Results The results of double enzyme digestion and DNA sequencing proved that the recombinant lentiviral vector LV5-GFP-hCx32 was successfully constructed.After packing in 293T cells,the recombinant lentivirus LV5-GFP-hCx32 with virus drops to 3 × 1011 TU · L-1 was obtained.Huh7 cells transiently infected with the lentivirus LV5-GFP-hCx32 remarkably over-expressed Cx32 at both mRNA and protein levels.Moreover,Cx32 expression was also significantly up-regulated in stably transfected Huh7 cells,and the presence of enhanced functional GJ in intact cells could be detected due to an increased amount of Cx32 protein along the plasma membrane at cell-cell contacts.Compared to LV5-NC group,the proliferation ability in Huh7 cells with recombinant Cx32 declined (P ＜ 0.05).Conclusions The lentiviral vector over-expressing Cx32 gene is successfully constructed,and can stably transfect Huh7 cells to yield sustained over-expression of exogenous Cx32 gene,thus eventually inhibits cell proliferation.

Objective To investigate the value of delayed 18F-FDG PET/CT with oral intake small dosage diuretics for diagnosing urogenital cancers.Methods Patients with suspected urogenital system cancers were divided into routine dosage diuretic group (n=12) and small dosage diuretics group (n=35).All patients underwent whole-body PET/CT followed by delayed scanning after oral 40 mg or 20 mg Furosemide respectively.The urine maximum standard uptake value (SUVmax) and T/U (the ratio of urine and lesion SUVmax) before and after diuresis were compared respectively.Diagnostic efficacy for malignant urogenital system cancers of small dosage group was calculated.Results The urine SUVmax and T/U were statistically different between routine whole body and delayed scans in both groups (P＜0.05).SUVmax and T/U of routine and delayed scans had no statistical differences between the two groups (P＞0.05).In small dosage group,the sensitivity,specificity,positive predictive value,negative predictive value and accuracy of delayed imaging and routine imaging was 96.77％ (30/31)and 61.29％ (19/31),75.00％ (3/4) and 50.00％ (2/4),96.77％ (30/31) and 90.48％ (19/21),75.00％ (3/4)and 14.29％ (2/14),94.29％ (33/35) and 60.00％ (21/35),respectively.The sensitivity and accuracy were statistically different between routine and delayed imaging (P＜0.001).Conclusion Delayed PET/CT imaging with oral small dosage Furosemide has the same efficacy as PET/CT using routine dosage diuretics,which is useful for diagnosing urogenital cancers.

Objective:To understand the symptom cluster and its connection with sense of coherence in patients with digestive tract cancer during chemotherapy.Methods:A total of 212 patients with digestive tract cancer during chemotherapy were surveyed with the M.D.Anderson Symptom Inventory (MDASI) and the Sense of Coherence (SOC) scale in 2 hospitals in Anhui Province.Exploratory factor analysis were used to extract the symptom clusters.Spearman correlation analysis were used to determine the relationships between the symptom clusters and SOC.Two subgroups were classified based on the scores of symptom clusters by using cluster analysis,and two independent samples t-tests were used to compare the differences between the two groups.Results:According to the factor analysis,four symptom clusters were identified,including psychological symptom cluster,gastrointestinal symptom cluster,fatigue-pain symptom cluster and neurotoxic symptom cluster.The cumulative variance contribution rate was 64.16％.The fatigue-pain symptom cluster was divided into fatigue symptom cluster and pain symptom cluster according to the correlation.Those 5 symptom clusters were negatively correlated with the SOC (r =-0.14-0.57,Ps ＜ 0.05).Two subgroups were classified based on the cluster analysis,patients in the high-score group (n =81) had significantly lower SOC scores (P ＜ 0.001) than those in low-score group (n =131).Conclusion:It suggests that digestive tract cancer patients during chemotherapy could experience several physiology and psychology symptom clusters,which are significantly negatively correlate with the sense of coherence.

Objective To evaluate the MRI findings in patients with general paresis of insane (GPI) to enhance the understanding of MRI diagnosis of this disease. Methods The clinical data and MRI findings of 32 patients with GPI, admitted to our hospital from May 2006 to November 2010, were retrospectively analyzed. Results The MRI findings of GPI were mainly divided into 2 types: cerebral atrophy (n=30) and cerebral swell (n=2). The major MRI findings in the type of cerebral atrophy included white cerebral atrophy in the temporal lobe, the frontal lobe, the hippocampus and the corpus callosum, morphological changes and T2 hyperintensity in the amygdaloid body and the hippocampus, gyral T2 hyperintensity in the cortex and subcortex, and T2 hypointensity in the lenticular nucleus. The MRI findings in the type of cerebral swell manifested as suffused and focal types. Conclusion The MRI findings in GPI are multiple with some characteristic manifestations. Diagnosis must be made through the combination of imaging features with clinical data and related laboratory tests.