Objective To study a-synuclein(SNCA)rs356200 and rs356165 loci polymorphism in the patients with Parkin son's disease(PD)and to investigate the correlation between SNCA gene polymorphism and PD cognitive impairment.Methods One hundred and twenty cases of PD in our hospital from June 2014 to December 2015 and 120 heaalthy people were selected as the research subjects.The PD cases served as the PD group and 120 healthy subjects as control group.The PD cases were also divided into the cognitive impairment group and non-cognitive impairment group according to the cognitive impairment.The rs356200 and rs356165 allele frequencies and genotype in each group were studied.Results The rs356200 allele frequency had statistical difference between the PD group and control group(P＜0.05),the rs356200 G/G,A/A and A/G genotype had statistical difference between the PD group and control group(P＜0.05).The rs356165 allele frequency had no statistical difference between the PD group and the control group(P＞0.05),the rs356165 G/G,A/A and A/G genotype had statistical difference between the PD group and control group(P＜0.05).The rs356200 and rs356165 allele frequencies and genotype had no statistical difference between the cognitive impairmentgroup and non-cognitive impairment group(P＞0.05).Conclusion The morbidity of PD is related to SNCA gene rs356200 and rs356165 sites polymorphism.PD cognitive dysfunction has no significant correlation with SNCA gene rs356200 and rs356165 loci polymorphism.

Objective To investigate the detection rate and missed diagnosis reason of sacral canal cyst with sacroiliac joint CT scan.Methods Retrospectively analyzed the changes of sacral canal in 1 286 cases with sacroiliac joint CT scan.CT scanning included bone algorithm reconstruction and standard algorithm reconstruction.Results Among 1 025 patients who had negative sacroiliac joint CT scan were found in 36 cases of sacral canal cyst,the detection rate was 3.5％ (36/1 025).Single cyst in 34 cases and multiple cysts in 2 cases.Cyst in S1 level 5 cases,S1-2 level 4 cases,S2 level 22 cases,S2-3 level 4 cases,S3 level 3 cases.The minimal short diameter of the cysts was 0.5 cm and the maximal diameter was 3.2 cm,average 1.2 cm.CT scan showed a round uniform cystic low density,and combined with sacral canal expansion in 19 cases.CT scan used bone algorithm reconstruction in 29 cases,used standard and bone algorithm reconstruction in 7 cases.Clinical findings and correctly diagnosed in 11 cases,accounted for 30.6％ (11/36),about 69.4％ (25/36) cases were missed diagnosis.Conclusions About 3.5％ patients are found sacral canal cyst who have negative sacroiliac joint CT scan.Both the standard and bone algorithm reconstruction should be used to avoid the missed diagnosis of sacral canal cyst.

Objective To evaluate the promotional effectiveness of different TCM appropriate technology packages; To provide a scientific basis for improving the technology package. Methods 8 assessment indexes, including input costs, the number of experts, the number of people with senior professional post, the number of grassroots people under the guidance of experts, the number of training hours, the number of people receiving training, evaluating rate and the number of users were selected. TOPSIS method was used to evaluate the promotional effectiveness of five kinds of TCM packages in grassroots. Results The Ci values for appropriate technology packages were 0.76 for pains in neck, shoulder, waist and lower extremities, 0.49 for gynecological diseases, 0.44 for infantile diarrhea, 0.66 for chronic gastropathy, and 0.00 for tumors. Conclusion The effectiveness of promotion of TCM appropriate technology packages from high to low is pains in neck, shoulder, waist and lower extremities package, chronic gastropathy package, gynecological diseases package, infantile diarrhea package, tumors package.

Familial adenomatous polyposis and Lynch syndrome represent two different molecular pathways of colorectal carcinogenesis that are commonly considered mutually exclusive: chromosomal instability and microsatellite instability. Here, we report a rare case of familial adenomatous polyposis in an adult male with Lynch-like syndrome. A 46-year-old male patient was found to have hundreds of adenomatous polyps throughout the whole intestine, and irregular masses in rectum, sigmoid and transverse colon. Genetic test showed that the patient carried pathogenic germline APC (c.423-1G>A) variant and two variants of uncertain significance in MLH1 (p.R725H) and PTCH1 (p.S438N), combined with tumor characteristics of somatic AKT1/PIK3CA/KRAS co-mutations, microsatellite instability and high tumor mutation burden. The patient underwent laparoscopic total colectomy with abdominoperineal resection and end ileostomy, then received 4 cycles adjuvant chemotherapy of oxaliplatin with capecitabine. This patient was followed up to April 2024 and performed well without abnormalities in serum cancer biomarkers and radiological examinations.

Familial adenomatous polyposis and Lynch syndrome represent two different molecular pathways of colorectal carcinogenesis that are commonly considered mutually exclusive: chromosomal instability and microsatellite instability. Here, we report a rare case of familial adenomatous polyposis in an adult male with Lynch-like syndrome. A 46-year-old male patient was found to have hundreds of adenomatous polyps throughout the whole intestine, and irregular masses in rectum, sigmoid and transverse colon. Genetic test showed that the patient carried pathogenic germline APC (c.423-1G>A) variant and two variants of uncertain significance in MLH1 (p.R725H) and PTCH1 (p.S438N), combined with tumor characteristics of somatic AKT1/PIK3CA/KRAS co-mutations, microsatellite instability and high tumor mutation burden. The patient underwent laparoscopic total colectomy with abdominoperineal resection and end ileostomy, then received 4 cycles adjuvant chemotherapy of oxaliplatin with capecitabine. This patient was followed up to April 2024 and performed well without abnormalities in serum cancer biomarkers and radiological examinations.

AIM:To study the effect of Panax quinquefolium saponin (PQS) on cardiomyocyte apoptosis in-duced by thapsigargin ( TG) .METHODS:Primary cultured cardiomyocytes from neonatal SD rats were divided into con-trol group, TG group, PQS (40 mg/L, 80 mg/L and 160 mg/L) +TG group, si-PERK+TG group, and mock+TG group.The cells were treated with 1 μmol/L TG for 24 h to induce apoptosis.The PERK gene in the cardiomyocytes was knocked down by RNAi.The cell viability was detected by CCK-8 assay.Apoptosis was analyzed by flow cytometry.Wes-tern blotting was used to determine the expression of ERS molecules GRP78, CRT, ATF4 and CHOP, anti-apoptosis pro-tein Bcl-2 and pro-apoptosis protein Bax.RESULTS: Compared with control group, TG significantly and the apoptosis, reduced the cell viability (P<0.05), increased the phosphorylation of PERK and eIF2α, increased the expression of GRP78, CRT, ATF4, CHOP and pro-apoptosis protein Bax, and decreased the expression of anti-apoptosis protein Bcl-2 (P<0.05).Compared with TG group, PQS treatment (160 mg/L) significantly reduced the apoptosis and increased the cell viability (P<0.05).All the 3 different concentrations of PQS significantly increased the expression of anti-apoptosis protein Bcl-2 and reduced the expression of pro-apoptosis protein Bax (P<0.05) in a dose-dependent manner.PQS pre-treatment and knockdown of PERK both reduced the protein levels of GRP78, CRT, PERK, p-PERK, eIF2α, p-eIF2α, ATF4, CHOP and pro-apoptosis protein Bax, and increased the expression of anti-apoptosis protein Bcl-2 (P<0.05). CONCLUSION:PQS at concentration of 160 mg/L attenuated cardiomyocyte apoptosis induced by TG.PQS had the simi-lar effect as PERK knockdown on cardiomyocyte apoptosis.The mechanism may be associated with inhibiting PERK-eIF2α-ATF4-CHOP pathway of ERS-related apoptosis.

Objective:To explore the effect of shoulder subluxation on the peripheral nerves in the hemiplegic upper limbs of stroke survivors.Methods:Twenty stroke survivors with shoulder subluxation were enrolled. Conduction in their suprascapular, axillary, musculocutaneous, radial, median and ulnar nerves was monitored and needle electromyography was used to monitor activity in the supraspinatus, deltoid, biceps brachii, extensor digitorum, abductor pollicis brevis and abductor digiti minimi muscles of their affected upper limbs at rest. Upper limb and hand function were assessed using the Brunnstrom scale. The rate of change in the amplitude of the compound muscle action potentials (CMAPs) was correlated with the patient′s disease duration, age, and upper limb and hand Brunnstrom stages.Results:Compared with the healthy side, a significant decrease was observed in the CMAP amplitudes of the suprascapular, axillary, musculocutaneous, radial, median and ulnar nerves of the hemiplegic arm, and the latency of the suprascapular and axillary nerves was significantly prolonged. There was no inter-arm difference in the conduction velocity of the musculocutaneous, radial, median and ulnar nerves. The rates of change in the CMAP amplitudes of the suprascapular, axillary and musculocutaneous nerves were significantly higher than those of the radial, median and ulnar nerves. The sensory nerve action potential (SNAP) amplitudes of the median, ulnar and radial nerves on the hemiplegic side were significantly lower than on the healthy side, but there was no significant difference in the sensory conduction velocity between the two sides. On the hemiplegic side, the median nerve had the highest rate of change rate in the SNAP amplitude, followed by the radial and ulnar nerves, but there was no significant difference among them. Nor was there any significant difference in the rate of change in sensory nerve conduction velocity. The muscles of the affected upper limbs had higher potentials in the proximal than that in the distal nerves after shoulder subluxation. The rate of change in the CMAPs was not significantly correlated with a patient′s disease duration, age, or upper limb or hand Brunnstrom stage on the hemiplegic side.Conclusions:Shoulder subluxation after a stroke can cause greater damage to the peripheral nerves in the shoulder and upper arm than to those in the forearm and hand, possibly affecting the recovery of upper limb function.

Objective: To investigate the risk factors for yersiniosis, so as to provide insights into prevention of yersiniosis. Methods: The patients with yersiniosis admitted to the clinics in the surveillance site of Chengbei Township of Jin'an District and Chengnan Township of Yu'an District in Lu'an City from 2013 to 2021 were included as the case group, and the healthy family members matched to cases were selected as the family control group, while normal residents with a 1︰2 match in the same village, gender, and age difference within 5 years were included in the community control group. Participants' demographics, hand-washing and eating habits, living environment hygiene, poultry and livestock feeding were collected using questionnaire surveys, and factors affecting yersiniosis were identified using a multivariable conditional logistic regression model. Results: There were 43 cases in the case group, with a median (interquartile range) age of 45 (34) years, 91 cases in the family control group, with a median (interquartile range) age of 36 (36) years and 86 cases in the community control group, with a median (interquartile range) age of 46 (34) years. Multivariable conditional logistic regression analysis showed that compared with the family control group, the habit of drinking unboiled water (OR=6.721, 95%CI: 1.765-25.588), and direct consumption of food stored in the refrigerator (OR=7.089, 95%CI: 1.873-26.829) were risk factors for yersiniosis in the case group; and compared with the community control group, not washing hands after contacting with poultry and livestock (OR=50.592, 95%CI: 2.758-927.997), habit of eating raw vegetables and fruits (OR=5.340, 95%CI: 1.022-27.887), direct consumption of food stored in the refrigerator (OR=19.973, 95%CI: 2.118-188.336), and unclean refrigerator (OR=12.692, 95%CI: 1.992-80.869) were risk factors for yersiniosis in the case group. Compared with the family and community control groups, not washing hands after contacting with poultry and livestock (OR=4.075, 95%CI: 1.427-11.637), habit of drinking unboiled water (OR=4.153, 95%CI: 1.331-12.957), habit of eating raw vegetables and fruits (OR=4.744, 95%CI: 1.609-13.993), and direct consumption of food stored in the refrigerator (OR=5.051, 95%CI: 1.773-14.395) were risk factors for yersiniosis in the control group. Conclusion Unhealthy habits such as eating raw vegetables and fruits, drinking unboiled water, direct consumption of food stored in the refrigerator, unclean refrigerator, and not washing hands after contacting poultry and livestock may increase the risk of yersiniosis.

Objective:To investigate the effects of anemoside B4 on apoptosis of retinal cells in diabetic rats.Methods:Sixty Sprague-Dawley rats were randomized into three groups: the normal control(control), diabetic rats(DM)and diabetic rats treated with Anemoside B4(B4)groups(n=20, each group). Rats in the DM and B4 groups were rendered diabetic with an intraperitoneal injection of streptozotocin(STZ, 60 mg/kg). After 3 days of successful modeling, rats in the B4 group were intraperitoneally injected with anemoside B4(5 mg/kg), twice/day, for 8 weeks, while rats in the control and DM groups were injected with an equivalent volume of normal saline.After 8 weeks of anemoside B4 and normal saline injection, rats were sacrificed and retinas were harvested for examination.Paraffin sections of retina were stained with the hematoxylin-eosin(H-E)method for morphological evaluation.Protein levels of Bax and Bcl-2 were detected by using Western blot.The expression of caspase-3 mRNA was detected with quantitative PCR.Results:H-E staining results showed the control group had intact retinal structure and clear morphological features, whereas disordered retinal structure, thinner layers, and sparse and disorganized cells were seen in the DM group.However, retinal structure and morphology were improved after treatment with anemoside B4.Compared with the control group, the protein expression of Bcl-2 was lower( t=57.81, P<0.01), the protein expression of Bax was higher( t=10.47, P<0.01), and the Bcl-2/Bax ratio was lower( t=23.98, P<0.01)in the DM group.Compared with the DM group, the protein expression of Bcl-2 was higher( t=41.07, P<0.01), the protein expression of Bax was lower( t=6.811, P<0.01), and the Bcl-2/Bax ratio was higher( t=14.70, P<0.01)in the B4 group.Caspase-3 mRNA expression was higher in the DM group than in the control group( t=7.916, P<0.01), but was lower in the B4 group compared with the DM group( t=6.221, P<0.01). Conclusions:Anemoside B4 can inhibit the apoptosis of retinal cells by up-regulating Bcl-2 expression and down-regulating Bax and caspase-3 expression in diabetic rats.

AIM:To explore the effects of CD38 on lysosome reformation and cholesterol efflux in macro-phages.METHODS:Bone marrow-derived macrophages from low-density lipoprotein(LDL)receptor knockout(LDLr-/-)mice were cultured as cell model.Live cell imaging system was applied to evaluate the effect of nicotinic acid adenine di-nucleotide phosphate(NAADP)on lysosome number.ELISA was conducted to measure NAADP level in macrophages.After the cells were treated with nicotinic acid(NA),RT-qPCR was conducted to detect CD38 mRNA expression,and Western blot was conducted to observe CD38 protein expression and phosphorylated transcription factor EB(TFEB)level.Laser scanning confocal microscopy was applied to evaluate the influence of CD38/NAADP signaling on lysosome number and cholesterol egression.RESULTS:NAADP remarkably increased lysosome number(P<0.05),and this effect was significantly inhibited by NAADP antagonist NED-19,Ca2+ chelator BAPTA,and calcineurin inhibitor CsA(P<0.05).CD38 markedly enhanced NAADP synthesis in macrophages(P<0.05).NAADP synthetic substrate NA prominently ele-vated the expression of CD38 mRNA and protein(P<0.05).NA significantly decreased the phosphorylated TFEB level;this effect was also attenuated by NED-19,BAPTA and CsA(P<0.05).Disrupting CD38/NAADP signaling pathway markedly inhibited NA-induced enhancement of lysosome number,lysosomal free cholesterol and cytosol cholesterol ester efflux in macrophages(P<0.05).NA-induced enhancement of lysosome number,lysosomal free cholesterol and cytosol cholesterol ester efflux abolished in LDLr/CD38 DKO macrophages(P<0.05),whereas these effects induced by NA were recovered after CD38 gene rescue.CONCLUSION:CD38 triggers lysosome reformation via TFEB and consequently pro-motes the efflux of lysosomal free cholesterol and cytosol cholesterol ester.