Objective:To report a family of Zellweger spectrum disorders (ZSD) caused by mutations in the PEX10 gene and to increase the level of awareness of the disease among clinicians. Methods:The clinical and genetic data of a brother-sister co-morbidity family with ZSD due to PEX10 gene mutation admitted to the Department of Neurology, Qilu Hospital of Shandong University in July 2022 were collected and a literature review was performed. Results:The proband was a 24-year-old female who was admitted to the Qilu Hospital of Shandong University due to unstable walking for 8 years and aggravated for 1 year with squatting effort. Cranial magnetic resonance imaging (MRI) showed cerebellar atrophy, electromyography suggested peripheral neuropathy with motor and sensory involvement, and pure tone hearing threshold measurement showed neurogenic deafness. The 15-year-old brother of the proband presented with "unsteadiness in walking and difficulty in squatting for 2 years". His cranial MRI and electromyography were similar to those of the proband, and his laboratory results suggested abnormal liver function. The whole exon sequencing results of the proband suggested a compound heterozygous mutation in the PEX10 gene with c. 992G>A(p. R331Q) and c. 988T>C(p. C330R) mutations and both were likely pathogenic mutations and respectively from her parents. And her brother also carried the above variants. A total of 9 case reports in English literature (1 of which was published by domestic scholars) were retrieved from major domestic and international databases on PEX10 gene mutations causing ZSD, with a total of 15 patients, most of whom had childhood and adolescent onset. The most common initial symptom was slowly progressed ataxia. The majority of patients showed cerebellar atrophy on cranial MRI and peripheral neuropathy was found in the most patients.The 2 patients were suggested to have phytic acid-free food, at the same time, they bagan taking L-arginine and ursodeoxycholic acid. Fortunately,both the ataxia symptom and liver function of them were dramatically alleviated 3 months later. Conclusions:For the patients with unexplained ataxia with polyneuropathy and abnormal liver function,the possibility of ZSD should be considered. Phytic acid-free food, L-arginine and ursodeoxycholic acid supplement may be beneficial for the ZSD patients.

Objective:To investigate the effects and mechanisms of curcumin on insulin resistance in streptozocin-induced diabetic rats.Methods:Diabetic rats were induced by intraperitoneal injection of STZ, then all the rats were randomly divided into diabetes (DM), diabetes+ curcumin (DM+ Cur), and diabetes + buffer control (DM+ NC) groups. Normal SD rats were used as control group (NC). The DM+ Cur group was treated with curcumin, while the DM+ NC group was treated with equal-volume buffer. The test lasted 12 weeks. The blood glucose was detected, and hyperinsulinemic-euglycemic clamp test was performed to estimate peripheral insulin resistance. At the end of the experiments, rats were killed and the total protein and cell membrane protein were extracted from skeletal muscle. The levels of phosphorylated PI3K, phosphorylated AKT, total PI3K, and total AKT were measured by Western blot. The levels of total GLUT4 and GLUT4 of cell membrane were also detected by Western blot, GLUT4 levels in skeletal muscle cell membranes were detected by immunofluorescence.Results:Blood glucose levels of DM+ Cur group were lower than those of DM group [(18.67±1.99 vs 24.38±2.88) mmol/L, P<0.05], and insulin resistance was also improved[the average GIR(14.69±0.29 vs 10.25±0.30) mg·kg -1·min -1, P<0.01]. The phosphorylation levels of PI3K and AKT were increased, and GLUT4 translocation to the cell membrane was increased. Conclusion:By activating the PI3K/AKT pathway, curcumin promotes GLUT4 translocation, increases skeletal muscle glucose uptake, and finally improves insulin resistance.

Objective To investigate the basic clinical features in 371 cases of colorectal polyps and its relationship with fecal occult blood and carcinoembryonic antigen(CEA).Methods The retrospective analysis was performed on 371 inpatients with colo-rectal polyps.The relationship among gender,number of polyps and polyps anatomical site in different ages of patients was investi-gated,and the relationship between fecal occult blood and CEA with polyp canceration was analyzed by 1.5?3.0 years follow-up. Results Among 371 cases of colorectal polyps,the female patients were gradually increased and single polyp was gradually de-creased along with the age increase;due to different ages,there was the statistically significant difference in the polyp locations (χ2 =9.759,P=0.045);the distribution difference of the patients with polyp canceration among three age groups was statistically significant(χ2 =5.138,4.107,13.153,P<0.05).The cases of fecal occult blood positive and CEA abnormal increase were gradual-ly increased with age increasing(χ2 =15.544,11.959,P<0.01);with the number of polyps increasing,the cases of fecal occult blood positive showed the increasing trend(χ2 =14.043,P=0.001);the canceration rate in colorectal polyp cases of fecal occult blood positive and CEA abnormal increase was significantly higher than that in the cases of fecal occult blood negative and CEA normal range(χ2 =40.165,43.249,all of P< 0.001).Conclusion The fecal occult blood test and CEA detection results have a certain significance to the follow up for preventing colorectal polyps canceration.

Objective To explore the state of cardiac autonomic nerve function in schizophrenia patients with metabolic syndrome and analyze its influence factors and to reduce the occurrence of sudden cardiac death of the patients. Methods A total of 168 cases of patients according with the ICD-10 schizophrenia diagnostic criteria were divided into group A(78 cases of schizophrenia with metabolic syndrome),group B(90 cases of schizophre-nia without metabolic syndrome)and another 92 normal cases were included as control group(group C). Twenty-four hours dynamic electrocardiogram was conducted respectively and the heart rate variability (HRV) was ana-lyzed. Results Values of LF,HF,SDNN,SDANN,RMSSD and PNN50 in group A and group B were much low-er than those in group C and they were statistically significant(P < 0.05). Values of LF,HF,SDNN,SDANN, RMSSD and PNN50 in group B were much higher than those in group A and they were statistically significant(P<0.05). Excluding the influence of schizophrenia ,logistic regression analysis showed that the influence factors of HRV values were course of the disease(OR = 1.864,95%CI 1.110~3.128),age(OR = 1.170,95%CI 1.018~2.491),types of antipsychotic drugs(OR=2.419,95%CI 0.976~1.835),abdominal obesity(OR=2.425,95%CI 1.347~4.366),blood pressure value(OR=1.263,95%CI 1.575~3.937),blood glucose value(OR=3.376, 95%CI 1.359~2.923)and blood lipid value(OR = 2.178,95%CI 1.492~6.756). Conclusions Schizophrenia patients with metabolic syndrome have obvious cardiac autonomic nerve dysfunction. Excluding the influence of schizophrenia itself,the other possible risk factors include course of the disease,age,types of antipsychotic drugs,abdominal obesity,blood pressure value,blood glucose value and blood lipid value.

Objective To explore the effect of oral feeding promotion program, which combined utilization of preterm infant oral motor intervention ( PIOMI) from abroad and the Chinese version of preterm infant oral feeding readiness assessment scale (PIOFRAS), on the performance, process and outcome of oral feeding in preterm infants.Methods A total of 62 infants born before 34 weeks of gestation were divided into control group and experimental group according to the order of admission. Both groups received the same routine care. The infants in the experimental group ( n=30 ) received the assessment of oral feeding readiness by PIOFRAS before feeding, and were given oral massage and non-nutritive sucking for 5 minutes once a day. The intervention started from gavage feeding to total oral feeding. While the control group ( n=32) received a sham intervention that nurses stood beside the warm box or the baby′s bed for 5 minutes once a day before feeding. The oral feeding performance, the corrective gestational age of initiation of oral feeding and achieving full oral feeding, daily bodyweight and length of hospital stay were recorded. Results The transitional time from the initiation of oral feeding to full oral feeding in experimental group was shorter than that in control group[(8.07± 6.73) d vs (13. 88±7.51)d], and the difference was statistically significant (t=3.200,P<0.05). There were no significant differences in the feeding performance, weight gain and length of hospital stay between two groups (P>0.05).Conclusions The oral feeding promotion program can improve the oral feeding of preterm infants.

Objective To explore gene polymorphism of G/A genotype of Fok Ⅰ rs2228570 (G/A) of vitamin D receptor (VDR) gene in Han male population of Chinese coastal area,and thus to investigate the relationship between the gene polymorphism of VDR and gout.Methods Altogether 504 gout patients and 523 healthy controls were enrolled.The possible association between the polymorphism of VDR rs2228570 and gout in Chinese coastal area was investigated and genotype frequencies and allelic frequencies were calculated by realtime PCR with Taqman(R)probe method.Hardy-Weinberg was used to verify the representativeness of the sample.Comparison between the groups were performed withx2 test and t-test.Results The frequencies of GG,AG,and AA genotypes were 32.1％,50.0％,and 17.9％,respectively among gout patients,while they were 27.9％,50.5％,and 21.6％ respectively among the controls.There was no statistically significant difference in VDR rs2228570 genotype frequencies between gout patients and controls(x2 =3.366,P＞0.05).The allele frequencies of G and A in gout cases were different from those in the controls(57.1％,42.9％;53.2％,46.8％;x2 =3.300,P＞0.05).Conclusions Results of the present study suggest that the G/A genotype of VDR Fok Ⅰ rs2228570 of the VDR gene is not associated with gout in male population of Chinese coastal area.

OBJECTIVETo explore the association of perioperative blood transfusion (PBT) with survival of gastric cancer after surgery.

METHODSWe retrospectively reviewed the medical records of 1 000 gastric cancer patients, including 738 non-transfused (73.8%) and 262 transfused (26.2%) cases. A one to one match was created using propensity score analysis, except preoperative hemoglobin level and operative blood loss. The survival was analyzed by Kaplan-Meier survival model.

RESULTSThe 5-year survival rate of the 1 000 cases of gastric cancer patients was 39.9%. Before matching, there was a significant difference between transfused group (33.6%) and non-transfused group (49.1%, P<0.005). Univariate analysis showed that age, tumor size, hemoglobin level, albumin level, depth of invasion, lymph node metastasis, lymph node dissection, surgery mode, adjuvant chemotherapy, blood loss and blood transfusion during perioperative period were associated with prognosis in the gastric cancer patients (all P<0.05). Multivariate analysis showed that tumor invasion, lymph node metastasis, lymph node dissection, chemotherapy and perioperative blood transfusion were independent prognostic factors in gastric cancer (all P<0.05). After matching, the 5-year survival rate of the 262 non-transfused patients was 37.7%, while that of the 262 transfused patients was 33.6% (P>0.05).

CONCLUSIONSPerioperative blood transfusion has no significant effect on the prognosis of gastric cancer patients.

Analysis of Variance ; Blood Transfusion ; mortality ; Humans ; Kaplan-Meier Estimate ; Lymph Node Excision ; Lymphatic Metastasis ; Perioperative Period ; Prognosis ; Retrospective Studies ; Stomach Neoplasms ; mortality ; pathology ; surgery ; Survival Rate

OBJECTIVETo compare the clinicopathological features of signet ring cell gastric carcinoma (SRCC) with those of non-signet ring cell cancers and explore the prognostic factors of signet ring cell gastric carcinoma.

METHODSWe retrospectively reviewed the medical records of 1447 gastric cancer patients, including gastric signet ring cell and non-signet ring cell cancers. Their clinicopathological characteristics and overall survival data were analyzed.

RESULTSThe differences in the age, sex, tumor location, depth of invasion, lymph node metastasis, distant metastasis, TNM classification and surgical type were significant between gastric signet ring cell and non-signet ring cell gastric carcinomas. The 5-year survival rate of the patients with gastric signet ring cell carcinoma was 29.6%, while that of the non-signet ring cell cancers was 42.9% (P < 0.05). The 5-year survival rate for each stage of gastric signet ring cell carcinoma and non-signet ring cell cancers was 71.0% and 79.3% for stage I, 45.6% and 58.3% for stage II, 16.9% and 29.2% for stage III, and 6.0% and 11.9% for stage IV cases, respectively, with a significant difference only between stages III and IV cancers (P < 0.05). Multivariate analysis showed that tumor diameter, T stage and N stage were independent prognostic factors for signet ring cell gastric carcinoma.

CONCLUSIONSThe signet ring cell gastric carcinoma has unique clinicopathological features compared with non-signet ring cell carcinoma. Early detection and treatment can improve the prognosis for patients with gastric signet ring cell carcinoma.

Carcinoma, Signet Ring Cell ; diagnosis ; pathology ; Humans ; Lymphatic Metastasis ; Multivariate Analysis ; Prognosis ; Retrospective Studies ; Stomach Neoplasms ; Survival Rate

Objective:The characteristics of lymph node metastasis were investigated to guide the range of lymph node dissection during the radical operation of distal gastric cancer. Methods:The clinical data of 773 patients with distal gastric cancer who under-went radical distal subtotal gastrectomy at the Tianjin Medical University Cancer Institute and Hospital between February 2010 and September 2014 were reviewed and analyzed to infer the potential clinical mechanisms of lymph node metastasis. Results:Among the included patients, 423 (54.72%) had lymph node metastasis. The proportion of metastasis in the patients from the highest to the lowest rate was observed in group NO. 6, 3, 4sb, and 5 lymph nodes. The metastasis rates of the N1 lymph nodes from the highest to the low-est were observed in group NO. 3, 6, 5, and 4d lymph nodes, whereas those of the N2 lymph nodes occurred in group NO. 8a, 7, and 1 lymph nodes. Group NO. 8a lymph node with skipped metastasis was observed in 50.68%of the patients. Conclusion:During radical distal gastric cancer surgery, attention should be given to the possibility of metastasis in group NO. 8a lymph node. Appropriate exten-sion of the lymph node dissection should be conducted when necessary.

Objective To compare the clinicopathological features of signet ring cell gastric carcinoma ( SRCC) with those of non-signet ring cell cancers and explore the prognostic factors of signet ring cell gastric carcinoma.Methods We retrospectively reviewed the medical records of 1447 gastric cancer patients, including gastric signet ring cell and non-signet ring cell cancers.Their clinicopathological characteristics and overall survival data were analyzed.Results The differences in the age, sex, tumor location, depth of invasion, lymph node metastasis, distant metastasis, TNM classification and surgical type were significant between gastric signet ring cell and non-signet ring cell gastric carcinomas.The 5-year survival rate of the patients with gastric signet ring cell carcinoma was 29.6%, while that of the non-signet ring cell cancers was 42.9%(P<0.05).The 5-year survival rate for each stage of gastric signet ring cell carcinoma and non-signet ring cell cancers was 71.0%and 79.3%for stageⅠ, 45.6%and 58.3%for stageⅡ, 16.9%and 29.2%for stageⅢ,and 6.0%and 11.9%for stageⅣcases, respectively, with a significant difference only between stages Ⅲ and Ⅳ cancers ( P<0.05 ) .Multivariate analysis showed that tumor diameter, T stage and N stage were independent prognostic factors for signet ring cell gastric carcinoma. Conclusions The signet ring cell gastric carcinoma has unique clinicopathological features compared with non-signet ring cell carcinoma.Early detection and treatment can improve the prognosis for patients with gastric signet ring cell carcinoma.