Autoimmune lymphoproliferative syndrome: analysis of 1 pedigree and review of literature / 白血病·淋巴瘤

Objective:To improve the understanding of autoimmune lymphoproliferative syndrome (ALPS).Methods:The clinical data of the proband and his family members in Children's Hospital Affiliated to Zhengzhou University in August 2018 were retrospectively analyzed, and the peripheral blood DNA of the proband, his parents and siblings was extracted. High-throughput next-generation sequencing was used to make gene analysis and validation. Phenotype and genotype of them were also analyzed. Relevant literature was reviewed.Results:The proband was a 1-year and 1-month old boy with hemolytic anemia, thrombocytopenia and splenomegaly as the main manifestations. The double negative T cells and the Vitamin B 12 of the proband were significantly increased and the autoantibodies were positive. The boy's father had a history of splenomegaly. His elder brother and sister had similar clinical manifestations. The results of next-generation sequencing showed that the FAS gene frameshift mutation (c.648delT) was detected in this boy and his father, elder brother and sister, which was a new mutation. After immunosuppressive treatment, the symptoms of the boy improved and the blood cells increased. Conclusions:The frameshift mutation of FAS gene may be the cause of the disease in this ALPS pedigree. Clinically, it is necessary to consider ALPS for children with unexplained hemocytopenia and hepatosplenomegaly. Double-negative T cells, autoantibodies, Vitamin B 12 should be tested, and high-throughput gene sequencing should be performed if necessary.

Effect of Miao Nationality Herbs Spray for Serum SOD, MDA and Expression of Fas-mRNA and Caspase-3 mRNA in Lung Tissues of Silica-treated Rats / 世界科学技术-中医药现代化

This study was aimed to prepare the spraying agent of prescriptions of Miao nationality herb and investigate the effect of Miao nationality herbs spray for serum SOD, MDA, and expression of Fas and Caspase-3 mRNA in lung tissues of silica-treated rats. The healthy SD rats were divided into 5 groups. Silica dust suspension was used in the model establishment of 4 groups. After the model was successfully established, 3 groups were randomly selected and given glucocorticoids atomization inhalation, Miao nationality herbs spray, Miao nationality herbs spray combined with intragastric administration of herbal medicine, respectively. After 40-day treatment, water-solubletetrazolium salt (WST-1) was used in the detection of serum superoxide dismutase (SOD). Thiobarbituric acid (TBA) was used in the detection of malondialdehyde (MDA). The mRNA expression variance of the Fas and Caspase-3 were detected by RT-PCR. The results showed that compared with the silica dust suspension group, the SOD activity of serum in the Miao nationality herbs spray group was significantly increased (P< 0.05). MDA content and the mRNA of Fas and Caspase-3 were significantly lower in the Miao nationality herbs spray group (P< 0.05). It was concluded that Miao nationality herbs spray group was able to increase the SOD activity of serum, decrease MDA content, and obviously decrease the expression of Fas and Caspase-3 of lung tissues among silica dust suspension rats.

Progress of autoimmune lymphoproliferactive syndrome / 国际儿科学杂志

Autoimmune lymphoproliferactive syndrome is a rare group disorders associated with self stability and immune tolerance of lymphocyte due to genetic mutation which affects the lymphocyte apoptosis .The clinical manifestations comprise lymphoproliferation, development of autoimmunity and malignancies.The pathogenesis and clinical features are complex ALPS were easily missed and no case had been reported until now in China.

Association of Fas gene polymorphisms with bone mineral density in postmenopausal Korean women / 대한산부인과학회지

OBJECTIVE: To examine the relationship between Fas gene polymorphisms, and bone mineral density (BMD). METHODS: Restriction fragment length polymorphisms at the Fas A670G, G1377A gene site, and BMD at the lumbar spine and proximal femur were analyzed in 229 postmenopausal Korean women (81 normal, 111 osteopenic and 37 osteoporotic patients). BMDs were measured by DEXA. RESULTS: The distribution of A670G and G1377C polymorphisms in all postmenopausal women was as follows: AA 18.3%, AG 46.3%, GG 35.4%; GG 38.0%, GA 39.7%, AA 22.3%, respectively. After adjusting for potential confounding factors such as age, BMI, and menopause duration, A670G polymorphism was significantly associated with BMD at the lumbar spine, the femur neck and trochanter in osteopenic and osteoporotic patients, and G1377A polymorphism was significantly associated with BMD at lumbar spine and the femur neck in osteopenic patients. CONCLUSION: These findings suggest that Fas gene polymorphisms may be an important contributor to the variation of BMD among postmenopausal Korean women.

Association of a Polymorphism in the Promoter Region of Apo-1/Fas Gene with Bipolar Disorder

OBJECTIVE: Recently, many experimental evidences have been reported that psychiatric diseases are closely related with neurodevelopmental abnormalities and this can be properly explained by apoptosis. It is known that Apo-1/Fas is one of the genes in charge of apoptosis related with neurodevelopmental abnormalities. In this study, the association between bipolar disorder and functional polymorphism in Apo-1/Fas promoter gene has been investigated. METHOD: For 81 bipolar disorder patients and 217 healthy control subjects, MvaI restriction fragment length polymorphism(RFLP) of Apo-1/Fas promoter gene was analyzed after polymerase chain reaction(PCR) amplification. RESULT: There was a statistical significant difference in genotypic distribution(chi2=16.656, df=2, p=0.0002) and allelic frequencies(chi2=14.225, df=1, p=0.0002) between bipolar disorder patients and healthy control subjects. CONCLUSION: Our results suggest an association between functional polymorphism in Apo-1/Fas promoter gene and bipolar disorder and provide the important genetic information related with the pathogenesis of the disease. Further studies employing larger samples are required to clarify the present results.

Effects of intra-bile duct radiation on the Fas gene expression and prevention of bile duct stricture in dogs / 中华消化杂志

Objective To study ?-radiation-induced expression of Fas gene and its significance in the apoptosis of proliferative muscle cells of bile duct wall in dog model. Methods The ~ ~103 Palladium (Pd) radioactive stent or general stent was inserted into dog extrahepatic bile duct, and bile duct specimens were ~obtained after 30 days. Expression of Fas and apoptosis of bile duct muscle cells in the control and ?-radiation-~induced groups were determined by immunohistochemical technique. The square of bile duct cavities of two groups were measured by computer ~imaging detecting system. Results The ~expre- ~ssion of Fas was much higher in the bile duct wall of dogs with ~ ~103 Pd radioactive stent than that in dogs with the general stent, and apoptotic muscle cells were more common in Fas highly expreessed than that in the Fas lowly ~experssed subgroup, and no stricture of extrahepatic bile duct was seen in former subgroup. No obvious ~apoptotic muscle cells were observed in the Fas lowly expressed subgroup, however, the dog in this ~subgroup had the obvious stricture of extrahepatic bile duct. Conclusions The level of Fas gene expression was associated with the rate of cell apoptosis in dog bile duct wall, and the ~ ~103 Pd radioactive stent may increase the expression of Fas gene, enhance the apoptosis of proliferative muscle cells of bile duct, and therefore prevent the stricture of extrahepatic bile duct.

Role of Fas Mediated Cells Apoptosis in Pathogenesis of Human Colonic Cancer Tissue / 中国医师杂志

Objective To explore the role of Fas gene expression in pathogenesis of human colonic cancer tissue.Method Expression of Fas gene protein in benign and malignant colonic tissue was detected by using flow cytometry in forty patients.Results Expression rate of Fas in normal control mucosas was(12 17?3 68)%.The expression rate in colonic cancer tissue was lower than both normal control group and benign tissue.The expression rate in inflammatory tissue was higher than the normal mucosal tissue,and the expression rate was correlated with the tumor differentiation.Conclusions Fas-mediated apoptosis may play an important role in carcinogenesis of colonic tissue.

In vitro Observation on the Apoptosis Induced by H_2O_2 in Protoscolex of Echinococcus granulosus / 中国寄生虫学与寄生虫病杂志

Objective To explore the apoptosis induced by hydrogen peroxide ( H2O2) in protoscolex of Echinococcus granulosus. Methods Protoscoleces were cultured in vitro, and used for the experiment in 2 groups: RPMI 1640 medium and RPMI 1640 medium added with glutamine. They were then treated with different concentrations of H2O2 to induce apoptosis. Terminal deoxynucleotidyl transferase-mediated dUTP nick end labeling assay (TUNEL) was employed to observe the apoptosis. Protein expression of caspase-1, caspase-3 and Fas was detected by SP immunohistochemical technique, stained with DAB restained with hematoxylin. A yellow or brown color nucleus revealed positive apoptosis cells in protoscolex, a brown reaction product in cytoplasm showed positive cells of caspase-1 and caspase-3, and brown cell membrane and cytoplasm revealed Fas product; otherwise it was judged as negative. According to the percentage of positive cells in a protoscolex, the expression level was divided as 4 grades. The percentage of less than 5% was regarded as "-", 5%-25% as "+", 26%-50% as "++", more than 50% as "+++". The experiments were repeated 2 times with controls. Results In RPMI 1640 group, positive TUNEL was found in the protoscolex induced by 1 mmol/L H2O2 inducing for 12 hours. Induced by 1 mmol/L H2O2 for 4 h, the "+ -++" expression rate of caspase-1 and caspase-3 in the protoscoleces was 86.6% and 77.8% , and for 8 h, 86.6% and 80.0% respectively, a significant increase in comparison to the control (P

APOPTOSIS AND CHANGES IN APOTOSIS REGULATING GENES IN LUNG TISSUE CELLS AFTER SMOKE INHALATION INJURY IN RATS / 解放军医学杂志

To explore the role of apoptosis, apoptosis regulating genes in the pathogenesis and development of smoke inhalation injury. With smoke inhalation injury rat model, the changes int the expression of Bcl 2, Bax, Fas, FasL genes mRNA and protein contents and their relationship with apoptosis of lung tissue cells at different time points after the injury were observed with TUNEL, immunohistochemistry and RT PCR techniques. The results showed that: ①apoptosis indet of lung colls after smoke inhalation injury increased, ②expressions of Bcl 2, Bax, Fas, FasL genes were obviously up regulated in injury group, peaking at the 12th hour, whereas the peak of protein expression was at the 24th hour. Furthermore, a significant correlation was found between the expression of Fas, Fasl, Bax gene and apoptosis indices in lung cells. The results suggested that apoptosis participated in the early pathological process of smoke inhalation injury, and apoptosis regulating genes foot part in the regulation of apoptosis in smoke inhalation injury.