To ignite medical students' interest in pathophysiology,cultivate their creativity and ability in clinical practice,the Department of Pathophysiology in Xiangya School of Medicine of Central South University has implemented the units-teaching pattern in combination with problem-based learning(PBL)in 345 students enrolling in the school of continuing education of Central South University in 2006.The experiment has received positive feedback and wide approval from the students.

Objective To analyze the effect of hand hygiene compliance on the incidence of ventilator-associated pneumo-nia(VAP )in children,and explore the role of hand hygiene in the prevention and control of VAP .Methods Hand hygiene compliance among HCWs in a pediatric intensive care unit (PICU)was intervened,hand hygiene compliance rate of HCWs and incidence of VAP in children with mechanical ventilation from March 1,to October 31,2012 (before intervention)and from January 1,to August 31,2013 (after intervention)were compared.Results Hand hygiene compliance rate after in-tervention was higher than before intervention(37.31%[97/260]vs 24.17% [58/240])(χ2 =10.08,P <0.01);the con-sumption of hand washing liquid and alcohol-based handrub enhanced from 3.48mL /bed day before intervention to 4.49 mL/bed day after intervention,which increasing by 29.02%.The incidence of VAP after intervention was lower than be-fore intervention (2.21‰[5/2 261]vs 6.50‰[13/2 001])(χ2 =4.67,P <0.05).Conclusion Implementation of com-prehensive measures and improvement of HCWs’hand hygiene compliance can reduce the incidence of VAP in chil-dren.

Objective To explore the role of resveratrol (RES) on cardiomyocyte hypertrophy of rat induced by isoproternol (ISO) and the effect of Res on the expression of GRP78 and GRP94 in endoplasmic reticulum stress of cardiomyocyte hypertrophy.Methods Hypertrophic model of cardiomyocytes was induced by ISO.Cardiomyocytes was divided into four group: control group, the model group, RES+ISO group and RES group.Hypertrophy status of cardiomyocytes was determined by Leica 2Q500 image analysis system measuring the cell surface area and the gene expression of ANP.The content of LDH and MDA was measured in different groups, and the protein expressions of GRP78 and GRP94 were detected by Western blot.Results Compared with control group, ISO induced cardiomyocytes hypertrophy, endoplasmic reticulum stress related factors GRP78 and GRP94 protein expression were increased, compared with ISO group, RES intervention effectively suppressed the cardiomyocytes hyper-trophy induced by ISO, reduced the protein expression of GRP78 and GRP94, at the same time, reduced lactate dehydrogenase (LDH) and malondialdehyde (MDA) release in cell medium.Conclusions Treatment of RES may protect cardiomyocytes hypertrophy, which is partially mediated by inhibiting the expression of ERS factors GRP78 and GRP94.

OBJECTIVE: To analyze the serological characteristics and molecular mechanism for an individual with p phenotype. METHODS: An individual with p phenotype upon blood group identification at Jiaxing Blood Center in May 2021 was analyzed. ABO, RhD and P1PK blood groups and irregular antibodies in her serum were identified using conventional serological methods. The encoding region of α1, 4-galactosyltransferase gene (A4GALT) encoding P1 and Pk antigens was analyzed by polymerase chain reaction-sequence-based typing (PCR-SBT). RESULTS: The individual was A group, RhD positive and had a p phenotype of the P1PK blood group system. Anti-PP1Pk was discovered in her serum. Sequencing analysis revealed that she has harbored a homozygous c.343A>T variant of the A4GALT gene. CONCLUSION The homozygous c.343A>T variant of the A4GALT gene probably underlay the p phenotype in this individual.
Female ; Animals ; Blood Group Antigens ; Homozygote ; Phenotype ; Polymerase Chain Reaction ; Sequence Analysis, DNA

OBJECTIVE To explore the clinical and laboratory features of a patient with 8p11 myeloproliferative syndrome (EMS) and CEP110-FGFR1 fusion. METHODS Combined bone marrow cytology, fluorescence in situ hybridization, fusion gene detection was used to analyze the patient. RESULTS Clinically, the patient had many features similar to those with chronic myelomonocytic leukemia, which included hyperleukocytosis, marked eosinophilia, monocytosis, myeloid hyperplasia and hyperplasia. Fluorescence in situ hybridization analysis for FGFR1 gene rearrangement was positive. Further study of the mRNA also confirmed an in-frame fusion between exon 38 of the CEP110 gene and exon 9 of FGFR1 gene. CONCLUSION EMS with CEP110-FGFR1 fusion is a very rare and distinct myeloproliferative neoplasm. FISH and molecular studies may improve its diagnosis.
Cell Cycle Proteins ; genetics ; Chromosomes, Human, Pair 8 ; Female ; Humans ; Middle Aged ; Myeloproliferative Disorders ; genetics ; Oncogene Proteins, Fusion ; genetics ; Receptor, Fibroblast Growth Factor, Type 1 ; genetics

Objective: To explore the effects and possible mechanisms of the novel pan-FGFR inhibitor BGJ398 on KG-1 cells in vitro. Methods: Effects of BGJ398 on cells proliferation were detected by CCK-8, the apoptosis was assessed by Annexin V-FITC. Reverse transcriptionquantitative polymerase chain reaction (q-PCR) analysis was used to detect the expression of apoptosis-related genes B cell lymphoma-2 (Bcl-2) and caspase-3. Western blotting analysis was performed to explore the proteins expression levels of Bcl-2, caspase-3 and the expression of p-AKT, p-S6K, p-ERK and FGFR1. Results: BGJ398 effectively inhibited cell proliferation by dose-dependent manners. BGJ398(1.4 µmol/L) induced apoptosis of KG-1 cells by 36.4%, compared with 4.5% in the control group(P<0.001). Treatment with BGJ398 at 1.4 µmol/L led to significant increases in the expression levels of caspase-3, and decreases in the expression of Bcl-2 (P<0.005). In accordance with these results, Western blot analysis further confirmed the increased expression of Bcl-2 protein along with elevated caspase-3 activity. In addition, BGJ398 markedly down-regulated FGFR1OP2-FGFR1 fusion protein, p-AKT and p-S6K expression, but not p-ERK expression. Conclusion Novel pan-FGFR inhibitor BGJ398 substantially suppressed KG-1 cell growth and induced apoptosis by inhibiting the expression of FGFR1, p-AKT, p-S6K and regulating apoptosis-related proteins.

OBJECTIVE: To delineate the clinical and molecular characteristics of a patient with myeloid neoplasm and co-existence of t(7;11)(p15;p15) and t(5;12)(q33;p13) translocations. METHODS: Clinical data of the patient was collected. Conventional karyotyping, reverse transcriptase (RT)-PCR and next generation sequencing (NGS) were carried out to delineate its genetic features. RESULTS: The patient has featured recurrent rash, fatigue, loss of appetite and splenomegaly. Laboratory test suggested hyperleukocytosis of FAB-M2-subtype. Neither eosinophilia nor basophilia was presented. NUP98/HOXA9 and ETV6/PDGFRB fusion genes were detected by RT-PCR. NGS and DNA-PCR showed the co-existence of WT1 p.C423Y, KRAS p.G12D and DNMT3A p.R882C mutations. The patient achieved morphological remission after imatinib plus coventional chemotherapy (standard IAC regimen). However, the disease has relapsed shortly after. Treatment was switched to HHT-Ara-C-Acla regimen, no hematological response was observed. The ETV6/PDGFRB fusion gene was undetectable in bone marrow sample, though strong expression of NUP98/HOXA9 was detectable throughout the whole course. CONCLUSION Acute myeloid leukemia in association with the co-existence of NUP98/HOXA9 and ETV6/PDGFRB fusion genes have unique clinical and genetic features. Imatinib seems to have no impact on the overall survival in such cases.
Chromosomes, Human ; Humans ; Karyotyping ; Leukemia, Myeloid, Acute ; Myeloproliferative Disorders ; Oncogene Proteins, Fusion ; Translocation, Genetic

BACKGROUNDTo evaluate and compare the effects and toxicity of the domestic product of nrhTNF combined with chemotherapy in the trial group and chemotherapy alone in the control group in the treatment of patients with non-small cell lung cancer (NSCLC).

METHODSNinety patients with NSCLC in multicenter were randomly devided into trial group and control group. Each group had 45 patients. Chemotherapy with CAP regimen was given for the patients in the trial group. Meanwhile, nrhTNF injection of 4×10⁶U/m ² was also given from the 1st to 7th days, the 11th to 17th days on the chemotherapy course. Twenty-one days were as a cycle, 2 cycles were given each patients. Chemotherapy alone with CAP regimen was given in the control group. The chemothepeutic effects and toxicity were observed and compared between the two groups after the therapy.

RESULTSOf the 90 patients, 3 cases in each group were out of the trial because of economy. The other 84 cases (each group had 42 patients) could be used to analyze and evaluate the clinical effects and toxicity. The response rate of chemotherapy was 47.62% (20/42) in the trial group and 19.05% (8/42) in the control group (P=0.002) respectively. The KPS was 85.02±10.74 in the trial group, and 81.35±9.63 in the control group (P=0.038). No significant difference of degree III+IV toxicity was observed between the trial group and control group (P > 0.05). The side effects related to nrhTNF included slight fever, cold like symptoms, pain, and red and swelling in injection site. All of them were mild and didn't need any treatment and disappeared after the therapy.

CONCLUSIONSThe results demonstrate that the effects of domestic nrhTNF combined with chemotherapy can remarkably higher than that of chemotherapy alone in the treatment of NSCLC. It is able to increase the sensitivity to chemotherapy and improve the quality of life of the patients. The toxicity is also slight and is worth to expand clinical use, so as to further evaluate its effect and toxicity.

Objective:To summarize the clinical and genetic characteristics of Potocki-Shaffer syndrome (PSS).Methods:A retrospective study was conducted to analyze the clinical data of 1 patient diagnosed with PSS in the Department of Pediatrics of the Sixth Affiliated Hospital, Sun Yat-Sen University at February 2021.The data analyzed included clinical manifestations, biochemical tests and gene tests.Meanwhile, studies were retrieved from the China National Knowledge Internet database, Wanfang database, and PubMed database from the establishment of the database to December 2021 by taking " Potocki-Shaffer syndrome" " EXT2 gene" " AlX4 gene" and " PHF21A gene" as key words.Besides, genes were searched from the Online Frontal Analysis Mendelian Inheritance in Man.The clinical and genetic features of PSS patients were summarized. Results:The patient was 5 months and 21 days old, male, who was admitted to the hospital due to excessive growth in body mass for the past 3 months.The patient showed mental and motor retardation, overgrowth, concealed penis, hearing loss, and hypotonia.Whole exon sequencing of this patient revealed heterozygous deletions in the Chr11: 44069455-48188946 region, including the deletions of 3 autosomal dominant genes: EXT2, ALX4, and PHF21A.The patient was diagnosed with PSS.A total of 14 articles published in English were collected, involving this boy and other 35 patients.In these patients, 14 cases had point mutations, and 22 cases had large deletions. PHF21A gene variation was detected in 23 cases (dysgnosia in 22 cases, dyskinesia in 21 cases, language development delay in 18 cases). EXT2 gene variation was observed in 22 cases (exostoses in 13 cases). ALX4 gene variation was found in 19 cases (bilateral parietal foramina in 15 cases). Of 36 cases, 27 cases had craniofacial anomalies. Conclusions:The main clinical symptoms of PSS are language and motor developmental delay, intellectual disability, exostoses, bilateral parietal foramina, and craniofacial anomalies, which are closely related to 3 autosomal dominant genes ALX4, EXT2 and PHF21A.Genetic testing facilitates the clinical diagnosis of PSS, and the mutation types are dominated by point mutations and large deletions.

Objective:To investigate the diagnosis and treatment for intra-abdominal fistula in China, and to explore the prognostic factors.Methods:A multi-center cross-sectional study was conducted based on the Registration System of Chinese Gastrointestinal Fistula and Intra-Abdominal Infections to collect the clinical data of patients with intra-abdominal fistula from 18 medical centers from January 1, 2018 to December 31, 2018, including basic information, medical records and prognosis.Results:A total of 106 patients were enrolled in this study, including 57 males and 49 females, with an average age of (48.0±17.8)years. The most common type of intra-abdominal fistula was entero-vesical fistula (34.0%), followed by entero-vaginal fistula (31.1%), entero-enteric fistula (26.4%) and multiple fistula (8.5%). The direct causes of intra-abdominal fistula were mainly surgical operation (66.0%), followed by spontaneous fistula due to Crohn′s disease (18.9%), radiation intestinal injury (11.3%), and 4 cases (3.8%) of unknown reasons. During the whole treatment, 95 patients received nutritional support therapy, mainly EN+ PN (75.8%). Finally, 86 patients (81.1%) received surgical treatment, with a healing rate of 95.3%. After surgery, 8.1% of patients developed surgical site infections (SSI), and 10.5% had a relapse of fistula. 20 patients (18.9%) were treated conservatively, with a self-healing rate of 80.0%. The overall mortality rate was 8.5%, and the highest mortality (15.2%) was found in entero-enteric fistula. Statistical analysis showed that the age ( t=-4.664, P<0.001), leucocyte level ( U=663.000, P=0.010), sepsis ( P=0.002) and multiple organ dysfunction syndrome (MODS) ( P=0.019) were higher in the death group than those in the healing group. Multivariate analysis suggested that advanced age ( OR=1.073, 95% CI: 1.008-1.141, P=0.026) and complications of sepsis ( OR=11.806, 95% CI: 1.064-131.048, P=0.044) were independent risk factors of the death for patients with intra-abdominal fistula. Conclusions:The overall mortality rate of intra-abdominal fistula is still high, and malignant tumor is the most common primary disease. Advanced age and sepsis are independent risk factors for death in patients with intra-abdominal fistula.