Objective To establish the enzyme-linked immunosorbent assay (ELISA)method in detecting the anti-M3RP antibody in Sj(o)gren's syndrome (SS) patients.and to explore the significance of this autoantibody in the diagnosis of SS.Methods The synthesized M3 receptor polypeptide was used as antigen in EUSA to detect the anti-M3RP antibody in sera of patients with SS.other CTDS and healthy controls.and the association between the clinical features of SS and anti-M3RP antibody was analyzed.Results Antibodies against M3RP were detected in 84.6%patients with pSS and 81-3% with sSS.8.8%with other CTD and 1%in heahhy controls.The positive rates of antibodies in pSS and sSS were higher than those in other CTDs and healthy controls.The presence of anti-M3RP antibodies had no significant correlation with clinical manifesta-tions and internal organ involvement.Furthermore.the positive rates of anti-M3RP antibodies in anti-α-fodrin.SSA,SSB,and ANA antibodies negative SS patients were 85%.89-3%,88.9%and 95.2%,respectively.body is a complementary parameter in the diagnosis of antibody-negative SS.

Objective To compare the efficacy and adverse effects of 5 days' and 7 days' course of combination chemotherapy regimen HA in the treatment of chronic phase of chronic myelogenous leukemia (CML-CP). Methods 18 cases of CML-CP had received 5 days' course of combination chemotherapy regimen HA including homoharringtonine 4 mg/d and cytarabine 200 mg/d for 5 days. At the same time,another 18 patients diagnosed as CML-CP who were given 7 days' course of HA regimen including homoharringtonine 4 mg/d and cytarabine 200 mg/d for 7 days were compared on the efficacy including peripheral white blood cells, spleen size and cytogenetic responses and adverse effects. Results The complete remission(CR) rate was 50.0 % and 61.1 % in 5 days' and 7 days' treated groups, respectively (P >0.05). The incidence of severe bone marrow suppression in 7 days' group(16.7 %) was higher than that in 5 days' group(0)(P <0.05). Conclusion The 5 days' course of combination chemotherapy HA regimen is same as 7 days' course of HA regimen about their curative effects in CML-CP. But the incidence of severe bone marrow suppression in 7 days' group(16.7 %) was higher than that in 5 days' group (0).

Objective:To study the clinical effect and safety of ubenimex capsules and SOX chemotherapy on the advanced gastric cancer.Methods:90 patients with advanced gastric cancer who were treated in our hospital from September 2013 to September 2015 were selected and randomly divided into the observation group (n=45) and the control group (n=45).The patients in the control group were treated with SOX chemotherapy,while the patients in the observation group were treated with ubenimex capsules on the basis of control group.Then the serum levels of MMP-2 and MMP-9,the immune functions,the clinical efficacy,the adverse reactions and survival rate of two groups were observed and compared before and after the treatment.Results:After treatment,the CD4+,CD4+/CD8+ in the observation group were higher than those of the control group (P＜0.05);The levels of MMP2 and MMP-9 in the observation group were lower than those of the control group (P＜0.05);The total effective rate of the observation group was higher than that of the control group [68.89％(31/45) vs 48.89％(22/45)] (P＜0.05);The incidence of thrombocytopenia,leukopenia,nausea and vomiting and abnormal liver functions in the observation group was lower than that of the control group (P＜0.05);The survival rate of the observation group was higher than that of the control group at 6 months and 12 months [93.33％ (42/45) vs 77.78％ (35/45),82.22％ (37/45) vs 57.78％ (26/45)](P＜0.05).Conclusion:Compared with SOX chemotherapy alone,ubenimex capsules and SOX chemotherapy could effectively improve the immune function,enhance the long-term survival rate with high safety of patients with advanced gastric cancer.

Objective:To identify the pathogenic gene mutations in a Chinese achromatopsia family.Methods:A pedigree investigation was performed.A Chinese Han pedigree from Luoyang city of China was enrolled in Henan Eye Hospital in November 2018.The medical history of the patients was collected.The best corrected visual acuity (BCVA) of the families was examined.The maniafestations of the anterior segment and fundus were obtained via slit lamp biomicroscope and slit lamp lens.The diopter was determined by objective and subjective refraction.Color vision was examined by Farnsworth-Munsell Hue Test.Retinal function was evaluated by international standard electroretinogram (ERG). Retina was observed by color photography, and its structural image was obtained by spectral-domain optical coherence tomography (SD-OCT). The peripheral blood sample was collected from the proband (Ⅲ1) and her younger brother (Ⅲ2) and parents for whole blood DNA extraction, and a whole genome sequencing (WGS) was performed to identify the pathogenic genes and mutation sites, and the sequencing data was compared through disease-related databases such as the Human Genome Databases due to a negative detective result of specific hereditary eye disease enrichment panel based on targeted exome capture technology.Sanger sequencing and bioinformatics analysis was carried out with softwares.The cosegregation analysis was performed.This study protocol was approved by an Ethics Committee of Henan Eye Hospital (No.HNEECKY-2019[15]) and complied with Declaration of Helsinki.Written informed consent was obtained from each subject or the guardian before any medical examination.Results:This family included 2 patients and 8 members with normal phenotypes in 3 generations and showed an autosomal recessive inheritance model.Poor vision and photophobia appeared after birth in both Ⅲ1 and Ⅲ2, and these symptoms did not deteriorate with aging.Pigmentary mottling and atrophic changes could be seen in the retinas of the patients.Reflection bands of external membrane and ellipsoid line in macula of patients were irregular on the OCT image.Color vision examination showed achromatopsia of the patients.ERG indicated that the amplitudes of a-, b-waves of scotopic 0.01, 3.0, 10.0 ERG and oscillatory potentials were slightly reduced, and the amplitudes of a-, b-waves of photopic ERG and wavelets of 30 Hz were seriously reduced in both eyes of Ⅲ1 and Ⅲ2.WGS showed that heterozygous mutations of a novel mutation c. 129+ 1G>A and a known mutation c. 1285dupT of CNGB3 gene in Ⅲ1 and Ⅲ2.The mutations were confirmed by Sanger sequencing.Conclusions:The compound heterozygous mutation in c. 129+ 1G>A/c.1285dupT of CNGB3 gene may be responsible for the achromatopsia pathogenesis in this Chinese Han pedigree.The abnormal phenotype of the patients is the result of both CNGB3 c. 129+ 1G>A and CNGB3 c. 1285dupT mutations simultaneously.

Objective:To identify the pathogenic gene mutations in a family with early onset severe retinal dystrophy (EOSRD).Methods:A retrospective clinical study. One patient and three family members from a Han of EOSRD who were diagnosed at Henan Eye Hospital in August 2018 were included in the study. After the detailed history of the patients was collected, all participants underwent best corrected visual acuity (BCVA), slit-lamp, fundus biomicroscopy with the slit lamp, untra-widefield fundus color photography, spectral-domain optical coherence tomography (SD-OCT) and full-field electroretinography (ff-ERG). The subject’s peripheral venous blood of 5 ml was collected and the whole genome DNA was extracted. A genetic eye disease capture chip containing 441 disease-causing genes was used for targeted capture and enrichment of high-throughput sequencing, and Sanger sequencing was performed for the clear pathogenic mutation sites; the analysis software was used for bioinformatics analysis of the mutation sites.Results:A 6-year-old female proband developed poor night vision in both eyes after 1 year old. The BCVA of both eyes were 0.1. The color of the optic disc was slightly lighter; the diameter of the retinal vessels was slightly reduced, and extensive pigment changes can be seen in the retina outside the vascular arch. SD-OCT examination showed that the outer membrane, ellipsoid zone and chimera zone in the central fovea of both eyes were unclear and intermittent. The visual area outside the fovea was neuroepithelial outer plexiform layer, outer nuclear layer, outer membrane, ellipsoid zone. The chimera zone gradually disappeared, and the thickness of the pigment epithelial layer was not uniform. In ff-ERG examination, the functions of the binocular cone and rod system were severely decreased. The results of genetic testing showed that there were c.921C>A homozygous mutations in the Tubby-like protein (TULP1) gene of the proband, and c.3121C>T and c.3488G>A compound heterozygous mutations in the cyclic nucleotide gated channel beta 1 (CNGB1) gene. Amino acid conservation analysis results showed that the above three mutation sites were highly conserved in multiple species; bioinformatics analysis results showed that TULP1 gene c.921C>A (p.Cys307*) had translation termination in the protein conserved region, CNGB1 gene c.3121C>T (p.Arg1041Trp) and c.3488G>A (p.Gly1163Glu) had amino acid polarity changes in the protein conserved region, which led to major changes in the protein spatial structure.Conclusion:TULP1 gene c.921C>A homozygous mutation, CNGB1 gene c.3121C>T and c.3488G>A compound heterozygous mutation are the mutation sites of this EOSRD family.

To investigate the role of mitochondria in neuronal apoptosis, ischemia-reperfusion mediated neuronal cell injury model was established by depriving of glucose, serum and oxygen in media. DNA fragmentation, cell viability, cytochrome C releasing, caspase3 activity and mitochondrial transmembrane potential were observed after N2a cells suffered the insults. The results showed that N2a cells in ischemic territory exhibited survival damage, classical cell apoptosis change, DNA ladder and activation of caspase3. Apoptosis-related alterations in mitochondrial functions, including release of cytochrome C and depression of mitochondrial transmembrane potential (deltapsim) were testified in N2a cells after mimic ischemia-reperfusion. Moreover, activation of caspase3 occurred following the release of cytochrome C. However, the inhibitor of caspase3, Ac-DEVD-CHO, couldn't completely rescue N2a cells from apoptosis. Administration of cyclosporine A, an inhibitor of mitochondria permeability transition pore only partly inhibited caspase3 activity and reduced DNA damage. Interestingly, treatment of Z-IETD-FMK, an inhibitor of caspase8 could completely reverse DNA fragmentation, but can't completely inhibit caspase3 activity. It was concluded that there were caspase3 dependent and independent cellular apoptosis pathways in N2a cells suffering ischemia-reperfusion insults. Mitochondria dysfunction may early trigger apoptosis and amplify apoptosis signal.
Animals ; Apoptosis ; physiology ; Caspase 3 ; Caspases ; biosynthesis ; Cytochromes c ; biosynthesis ; Mice ; Mitochondria ; physiology ; Neuroblastoma ; pathology ; Neurons ; pathology ; Reperfusion Injury ; metabolism ; pathology ; Tumor Cells, Cultured

Objective To analyze the residents' iodine nutrition level of Yunfu City in Guangdong Province from 2009 to 2016,in order to provide evidence for making prevention strategy of iodine deficiency disorders.Methods Four surveys on salt iodine levels,four surveys on urinary iodine levels of children aged 8-10 years old,two surveys on urinary iodine levels of pregnant women and one survey on iodine content in drinking water were carried out according to the prevention and control planning for endemic disease in Guangdong Province in Yunfu City from 2009 to 2016.Salt iodine was determined by direct titration (GB/T 13025.7-1999,GB/T 13025.7-2012),urinary iodine was determined by arsenic cerium catalytic spectrophotometry (WS/T 107-2006,WS/T 107.1-2016),water iodine was determined by the national iodine deficiency disease reference laboratory recommended method.Results In 2009,2011,2015 and 2016,1 464,1 464,1 500,1 500 salt samples and 500,388,1 000,1 000 children were investigated,the medians of salt iodine levels were 30.3,28.1,24.8,and 24.8 mg/kg,respectively,and the medians of children urinary iodine levels were 208.3,188.3,143.1 and 165.2 μg/L,respectively.Five hundred,five hundred pregnant women were investigated in 2015 and 2016,and the medians of pregnant women urinary iodine levels were 101.0 and 96.4 μg/L,respectively.A total of 1 149 samples of drinking water were investigated in 2011-2016,the median of water iodine was 2.8 μg/L.Conclusion Yunfu is an iodine deficiency city,after adjusting the iodine content of edible salt in 2012,iodine nutrition in children is at an appropriate level,but the iodine intake level of pregnant women is relatively lower,so prevention and treatment of iodine deficiency disorders and urinary iodine monitoring should be strengthened in pregnant women.

Objective To estimate effective and organ doses to prostate cancer patients result ing from the whole-body 18F-Choline,11C-Choline and 68Ga-PSMA PET-CT examinations.Methods A total of 150 prostate cancer patients who underwent PET-CT scanning from May 2017 to June 2018 were retrospectively analyzed.They were divided into three groups,each with 50 patients,according to the type of positron radiopharmaceuticals injected.All patients used the same PET-CT scan protocol.PET component dose was calculated by using OLINDA/EXM (version 1.1) software which was based on the MIRD method.The CTDI values were measured by the standard CT phantoms and computed by ImPACT (version 1.0.4) CT,and ImPACT was used for dose calculation from CT.The tissue weighting factors according to ICRP Report 103 were used for effective dose calculation.Results The effective dose and organ equivalent dose from 18F/11C-Choline and 68Ga-PSMA PET/CT examinations were estimated.The voltage and current of Topogram scan were 120 kV and 35 mA,respectively,as well as 120 kV and (135.6±9.4) mA for low-dose CT scan.The injected activity of 18 F-Choline,11 C-Choline and68Ga-PSMA was (279.2±13.2),(350.2±39.9) and (186.8±19.4) MBq,respectively.The effective dose was (5.0±0.2),(1.6±0.2) and (3.0±0.3) mSv,respectively (F=837.0,P＜0.001).The CT effective dose was (11.4±0.2) mSv.The total effective dose for three groups were (16.4±0.3),(13.0±0.3) and (14.4±0.4) mSv,respectively.The mean organ equivalent doses were statistically significantly different among groups (F=381.2-1 637.7,P＜0.001).The highest organ equivalent dose was to kidney for18F-Choline and68 Ga-PSMA PET/CT scans and thyroid for11 C-Choline PET/CT scan.Conclusions The effective dose to the prostate cancer patients who underwent PET-CT scanning was from 13.0 to 16.4 mSv,with vast majority of these doses coming from CT scans.The lowest radiation dose to the patients was caused by 11C-Choline PET-CT examination,suggesting that it would be a potential prostate cancer PET radiotracer.

Objective:To identify two pathogenic gene mutations in two families with Alstr?m syndrome (ALMS).Methods:A retrospective clinical study. Two patients and five family members from two Han families of ALMS diagnosed at Henan Eye Hospital from August 2020 to December 2021 were enrolled in this study. All participants underwent comprehensive ophthalmic examinations including best corrected visual acuity (BCVA), color test, slit-lamp, fundus biomicroscopy with slit lamp, fundus color photography, optical coherence tomography (OCT) and full-field electroretinography (ff-ERG) after the detailed history of the patient was taken. Five millilitres peripheral venous blood of each subject was collected, and the whole genome DNA was extracted. The pathogenic genes and mutation sites were identified using whole exome sequencing and the identified mutations were verified by Sanger sequencing. Mutation sites were analyzed via bioinformatics softwares.Results:Family one included one victim and two members and family two included one victim and three members. Proband in the first family was a four-year old boy whose chief complaint was poor vision along with photophobia since born, while proband in the second family was a 12-year old girl whose chief complaint was the same. The boy proband could not distinguish color, and both the anterior segment and fundus were normal. Ellipsoid zone of the boy was unclear in both eyes in OCT, and though rod system function decreased mildly-moderately in both eyes, the cone system function decreased severely in ff-ERG. The girl could not distinguish color as well, and the anterior segment was normal, though obvious pigmentary change could be seen in both retinas. The integrity of outer retinal bands was unclear in both eyes in OCT, and both cone and rod systems function decreased severely in both eyes in ff-ERG. Gene tests and bioinformatics analyze showed c.468dupT and c.10819C>T of ALMS1 gene in family one were novel mutations and c.10819C>T in family one and c.10831_10832del in family two were pathogenic mutations. Conclusions:M1, M2 and M3, M4 may be pathogenic gene variants in family 1 and family 2, respectively. The compound heterozygous mutation, c.468dupT and c.10819C>T of ALMS1 gene was a novel mutation.