Objective:To explore the clinical features and genetic basis for a child with Intellectual developmental disorder (IDD) and epilepsy.Methods:A child who was admitted to the Children′s Medical Center of the Affiliated Hospital of Guangdong Medical University in February 2021 was selected as the study subject. Clinical data of the child was collected. Peripheral blood samples of the child and her parents were collected and subjected to whole exome sequencing (WES). Candidate variant was verified by Sanger sequencing.Results:The patient, a 3-month-and-27-day female infant, had developed the symptoms in the neonatal period, which included severe developmental delay, respiratory difficulties and pauses, increased muscle tone of four limbs, feeding difficulty, and seizures. Cerebral MRI revealed bilateral cerebellar hypoplasia, and video EEG showed slightly increased sharp waves emanating predominantly from the right parietal, occipital, and posterior temporal regions. WES revealed that she has harbored a missense c. 3196G>A (p.Glu1066Lys) variant of the CLTC gene, which was confirmed to be de novo by Sanger sequencing. Based on the guideline from the American College of Medical Genetics and Genomics (ACMG), the variant was classified as likely pathogenic (PS2+ PM2_Supporting+ PP3). Conclusion:The c. 3196G>A (p.Glu1066Lys) missense variant of the CLTC gene probably underlay the pathogenesis in this child. Above finding has facilitated her diagnosis and treatment.

Objective:To investigate the effect of the virtual simulation system-based teaching method for the experimental course of oral local nerve block anesthesia in improving the effect of traditional teaching methods.Methods:One hundred and eighteen undergraduate dental students were randomly divided into two groups, the experimental group was taught using a virtual simulation-based system, and the control group was taught using traditional teaching. The results of the teaching were comprehensively evaluated through course feedback questionnaires, analysis of theoretical test scores, evaluations of the trainees administering and receiving anesthesia on the current anesthesia, and faculty evaluations of the success of the anesthesia, and t-tests and chi-square tests were performed using SPSS 23.0.Results:There was no significant difference in baseline level between the two groups. The students in the experimental group thought that the learning was more vivid ( t=4.24, P=0.005) and had more self-confidence in local anesthesia ( t=4.99, P<0.001). The students in the experimental group felt less needle tip jitter during injection ( t=2.22, P=0.048) and better contact with the medial surface of the mandible ( t=2.22, P=0.020). The students who received anesthesia reported less pain during injection ( t=1.99, P=0.029) and better anesthesia of the inferior alveolar nerve ( t=3.36, P=0.039) in the experimental group. Teacher assessment revealed that the experimental group had a significantly lower failure rate of inferior alveolar nerve block than the control group ( χ2=4.40, P=0.036). Conclusions:The virtual simulation system can optimize the experimental teaching of oral local nerve block anesthesia and can achieve a satisfactory teaching effect.

Objective To investigate the effects of cognitive behavioral therapy based on the Information-Motivation-Behavioral Skills (IMB) model on anxiety, depression, and other negative emotions in patients with vestibular dysfunction. Methods A total of 154 patients with vestibular dysfunction admitted to our hospital from March 2021 to September 2023 were enrolled and randomly divided into observation group (n=77) and control group (n=77) using simple random sampling. Both groups received routine treatment and intervention, while the observation group received additional cognitive behavioral therapy based on the IMB model. The Depression Anxiety Stress Scales-21 (DASS-21), Dizziness Handicap Inventory (DHI), Vestibular Rehabilitation Benefit Questionnaire (VRBQ), Falls Risk Questionnaire (FRQ), Exercise of Self-Care Agency Scale (ESCA) scores, and changes in balance function were compared between the two groups before and after the intervention. Results After 4 weeks of intervention, the depression, anxiety, and stress scores in both groups decreased compared to pre-intervention, and the observation group showed lower scores than the control group after 4 weeks of intervention (P < 0.05). The physical, emotional, functional scores decreased in both groups after 4 weeks of intervention; the observation group had lower scores than the control group at 4 weeks (P < 0.05). The VRBQ and FRQ scores decreased, while the ESCA scores increased in both groups after 4 weeks of intervention; the observation group had lower VRBQ and FRQ scores and a higher ESCA score compared to the control group at 4 weeks (P < 0.05). Balance function improved in both groups after 4 weeks of intervention, with the observation group showing better balance function than the control group (P < 0.05). Conclusion Cognitive behavioral therapy based on the IMB model can help patients with vestibular dysfunction improve negative emotions such as anxiety and depression, and promote the improvement of clinical symptoms and self-care ability, thereby enhancing the quality of rehabilitation.

OBJECTIVE: To investigate the expression and localization of metabotropic glutamate receptors 7 and 8 (mGluR7/8) in rat superior cervical ganglion (SCG) and their changes in response to chronic intermittent hypoxia (CIH). METHODS: We detected the expressions of mGluR7 and mGluR8 in the SCG of 8-week-old male SD rats using immunohistochemistry and characterized their distribution with immunofluorescence staining. The expression of mGluR7 and mGluR8 in the cytoplasm and nucleus was detected using Western blotting. A 6-week CIH rat model was established by exposure to intermittent hypoxia (6% oxygen for 30 s followed by normoxia for 4 min) for 8 h daily, and the changes in systolic blood pressure, diastolic blood pressure and mean arterial pressure were measured. The effect of CIH on expression levels of mGluR7 and mGluR8 in the SCG was analyzed using Western blotting. RESULTS: Positive expressions of mGluR7 and mGluR8 were detected in rat SCG. mGluR7 was distributed in the neurons and small fluorescent (SIF) cells with positive staining in both the cytoplasm and nuclei, but not expressed in satellite glial cells (SGCs), nerve fibers or blood vessels; mGluR8 was localized in the cytoplasm of neurons and SIF cells, but not expressed in SGCs, nerve fibers, or blood vessels. Western blotting of the nuclear and cytoplasmic fractions of rat SCG further confirmed that mGluR7 was expressed in both the cytoplasm and the nucleus, while mGluR8 exists only in the cytoplasm. Exposure to CIH significantly increased systolic blood pressure, diastolic blood pressure and mean arterial pressure of the rats (all P < 0.001) and augmented the protein expressions of mGluR7 and mGluR8 in the SCG (P < 0.05). CONCLUSION mGluR7 and mGluR8 are present in rat SCG but with different localization patterns. CIH increases blood pressure of rats and enhanced protein expressions of mGluR7 and mGluR8 in rat SCG.
Male ; Animals ; Rats ; Rats, Sprague-Dawley ; Superior Cervical Ganglion ; Receptors, Metabotropic Glutamate ; Hypoxia

Objective To analyze and discuss the epidemiological characteristics of HBV infection in people with hepatitis B virus (HBV) surface antigen (HBsAg) positive in Deyang Area. Methods The health checkup information of the region in 2020 was selected to screen the subjects with the results of HBV serological markers, and 1645 HBsAg-positive patients were selected as the main subjects to analyze the epidemiological characteristics of the population. Use Epidata to enter data, and use SPSS statistical software package to analyze the data. Results Except for the differences in occupational distribution between the sexes, the differences in age, education level, family history, and vaccination history (hepatitis B vaccine) were not statistically significant among men and women in this study. Among the 1645 HBsAg-positive subjects, 41 were double-positive for anti-HBs at the same time, and the double-positive rate was 2.49%. Compared with HBs-negative people, HBs-positive people have a relatively higher proportion of males, junior high school education level, occupation as a farmer, unvaccinated, and positive family history. AmpliPrep/COBAS quantitative detection reagent was used for HBV DNA viral load detection, 92.69% were quantitatively positive (38 cases), of which 23 cases (60.53%) with HBV DNA < 20 IU/mL, and 15 cases (39.47%) with HBV DNA >20 IU/mL). The epidemiological characteristics of the double-positive population suggest that the proportion of males, junior high school education level, occupation as a farmer, unvaccinated and positive family history is relatively higher. Analyzing the potential influencing factors of anti-HBs positive (double positive) in HBsAg-positive people, it can be seen that the increase in age, the occupation is a farmer, the first injection of hepatitis B vaccine is not in time, and the family history of liver disease is positive as potential risk factors for the occurrence of double positive. Conclusion In the future, this region should pay special attention to farmers who are older, have a family history of liver disease, and lack or incomplete hepatitis B vaccination for hepatitis B prevention and control.

Objective To review the experience of the clinical diagnosis and treatment of primary testicular diffuse large B-cell lymphoma.Methods A review was made who were treated in the Tumor Hospital of Zhengzhou University from January 2011 to November 2018.The average age of the patients was 58 years old,with 4 cases in left side and 8 cases in right side.All patients were admitted to hospital with painless testicle mass.Solid mass of testis were detected by ultrasound with no abnormality in tumor markers.All patients underwent orchiectomy and followed by chemotherapy.Results Twelve primary testicular lymphoma (PTL) were identified by pathology,with 8 cases in phase Ⅰ,2 cases in phase Ⅱ,1 case in phase Ⅲ,and 1 case in phase Ⅳ.The mean follow-up was 31 months.Inguinal orchiectomy was recommended as a diagnositc and initial therapy.All patients underwent R-CHOP/CHOP chemotherapy consisting of cyclophosphamide,doxorubicin,vincristine and prednisone with or without rituximab,including 6 cases with R-CHOP and 6 cases with CHOP.Nine of 12 patients underwent intrathecal prophylatic chemotherapy and 6 of 12 patients underwent contralateral testicle radiotherapy.Relapse occured in 2 patient with CHOP in central nervous system and died of the disease.One case with CHOP relapsed in abdominal cavity.No contralateral testicle relapse was observed.Conclusions PTL is a rare extranodal lymphoma.Painless testicle tumor in men over 50 years old should suspect of this disease.Inguinal orchiectomy is an important part of the treatment,which combines systemic chemotherapy and prophylactic modalities such as radiotherapy of contralateral testis and/or central nervous system (CNS) prophylaxis.

Objective To observe the therapeutic effects and adverse effect of different lipid-lowering regimens in Atherosclerosis renal artery stenosis (ARAS) rat model and select the optimal treatment.Methods 90 Wister rats were randomly divided into sham operation group (group F) and operation group.The operation group was divided into normal feed group (group N) and high-fat feed group (group T).We established the rat model in operatino group by narrowing the renal artery with acupuncture needle and 8 weeks of high-fat feeding.According to the different lipid-lowing therapeutic schedules,the T group rats were randomly divided into five groups:the blank group (T0 group),the Xuezhikang group (T1 group),the rosuvastatin group (T2 group),the regular dose of rosuvastatin combined with Xuezhikang (T3 group),the low dose of rosuvastatin combined with Xuezhikang (T4 group).Mter 6 weeks of intervention,the serum lipids [total cholesterol (TC),triglyceride (TG),high density lipoprotein-cholesterol (HDL-C),low density lipoproteincholesterol (LDL-C)],liver function [alanine aminotransferase (ALT),aspartate aminotransferase (AST)],kidney function [blood urea nitrogen (BUN),serum creatinine (Scr)] and pathological changes of aorta and kidney were detected before and after treatment.Results (1) The blood pressure,BUN and Scr were significantly increased in N group and T group compared with F group (P ＜ 0.05).TC,TG,LDL-C were significantly increased (P ＜ 0.05) and HDL-C were significantly decreased (P ＜ 0.05) in T group compared with N,T group.According to the pathological section,the aorta in T group had visible atherosclerosis change,the renal tubules were atrophied and decreased.All above,the rat model of ARAS was successfully established.(2) After 6 weeks of drug intervention,compared with prior treatment,TC,TG,LDL-C,BUN and Scr were significant decrease (P ＜ 0.05),while HDL-C was significantly increased (P ＜ 0.05) in all treatment groups,and the most remarkable change was in T3,T4 group,T3 group was better than T4 group but with no significant difference between T3 and T4 group (P ＞ 0.05).We found that ALT and AST were significantly increased in T2 and T3 group (P ＜ 0.05) after treatment.Compared with T0 group,pathological lesions of aorta and kidney were reduced best in T3 and T4 group.Conclusions Low dose of rosuvastatin combined with Xuezhikang can achieve ideal lipid-lowing effects.At the same time,it has a protective effect on kidney,and has little damage to liver function.

Objective To evaluate the safety and efficacy of treating bifurcation lessions with jailed-balloon technique in simple strategy. Methods Ninety patients with bifurcation lessions (Duke D or F type) who received the side branch protection technique with simple strategy were involved in a single center retrospective analysis. Patients were randomly divided into jailed-balloon protection group (n=48) and jailed guidewire group (n=42). The process operating, procedural success of percutaneous coronary intervention (PCI) and percutaneous transluminal coronary angioplasty (PTCA), complications and the results of follow-up were investigated. Results The clinical baseline date and the bifurcation lesions were not significant different between jailed-balloon group and jailed guidewire group (P>0.05). The procedural success rate of PCI was 100%in jailed-balloon group and 97.6%in jailed guidewire group, no significance difference user between two groups (P>0.05). The perioperative complications (the rate of no reflow) was lower in jailed-balloon group than those of jailed guidewire group (1.0%vs. 19.0%, P<0.05). The procedural success rate of PTCA were lower in jailed-balloon group than that of jailed guidewire group (4.2%vs. 23.8%, P<0.01). The total operation time [(56.40±11.71) s vs. (72.60±10.62) s],exposing time [(9.86±1.82) s vs.(12.24±2.32)s] or amount of used contrast agent [(90.54±15.26) mL vs. (118.16±18.64) mL] were significantly lower in jailed-balloon group compared with those of jailed guidewire group (P<0.05). At the 12-month follow-up, the MACE was lower in the jailed-balloon group than that of jailed guidewire group (16.7%vs. 38.1%, P<0.05). The restenotic rate (2.1%vs. 4.8%, P>0.05) and the maximum restenotic level (19.24%vs. 21.46%,P>0.05) in the main branch were not significant different between jailed-balloon group and jailed guidewire group. But the maximum restenotic level in the opening of side branch was lower in jailed-balloon group than that of jailed guidewire group (51.2% vs. 72.46%, P < 0.01). Conclusion The jailed-balloon technique reduces the operation complications, exposure time and amount of contrast agent, and also saves surgical consumables. The procedure of branch with simple strategy is safe and effective in treatment of bifurcation lesions.

Objective To investigate the expression of adiponectin (APN) and the clinical significance in type 2 diabetic rats with cerebral ischemic reperfusion damage.Methods One hundred and four SD rats were randomly divided into two groups,including normal diet group (n=52) and diabetic diet group (n=52); middle cerebral artery occlusion was performed in some of the rats to induce ischemia reperfusion injury models.Normal diet group was then randomly divided into euglycemia group (n=8) and ischemia reperfusion group (I/R,n-44); diabetic diet group was randomly divided into diabetes groups (n=8) and diabetes complicated with ischemia reperfusion group (DM+I/R,n=44).The blood was collected to detect the APN changes from the tail vein of rats from diabetes group (n=4) and DM+I/R group (n=4) before MCAO surgery and at 3,6,24,48 and 72 h,and 7 d after reperfusion.The rest 40 rats were randomly divided into subgroups subjected to 90 min of focal ischemia followed by 3,6,24 and 72 h,and 7 d reperfusion (n=8); the neuroethology assessment was determined by Zea Longa method; morphology of brain tissue was observed by HE staining.APN expression in infarction cores was detected by immunohistochemistry and Western blotting.Results The assessment scores of DM+I/R group (2.79±0.41) were significantly higher than those of I/R group (1.27±0.45,P＜0.05).As compared with that in the I/R group,the serum APN level in the DM+I/R group was significantly decreased 3,6,24,48 and 72 h,and 7 d after reperfusion (P＜0.05).Cerebral tissue damage (cellular degeneration and necrosis) in DM+I/R group was more serious as compared with I/R group at the same reperfusion time.In the ischemic hemisphere,APN expression increased at 3 h,decreased at 6 h,and increased again till 24 h after reperfusion,and then it remained at high level up to 7 days after reperfusion.The expression of APN in DM+I/R group was significantly lower than that in the I/R group (P＜0.05).These findings were consistent with the results of Western blotting.Conclusion APN expression decreases after focal cerebral ischemia-reperfusion injury,indicating that APN plays an important role in aggravating ischemic reperfusion injury by diabetes.

Objective To study effects of hFRNK gene on phosphorylated p190RhoGAP expression and RhoA activation by mediated adenoviral vector in colorectal carcinoma cell Colo320WT stimulated with extrinsic gastrin17 in vitro.Methods AdEasyTMsystem was used to construct pAdhFRNK expressing human FRNK gene by recombination in E.coli.BJ5283.pCR3.1/GR plasmid expressing gastrin receptor CCK-2 was transfected into colonic carcinoma cell line Colo320 cells by LipofectamineTM2000 and expression stably CCK-2R clones was selected by G418(500 ?g/mL).The expression levels of gastrin receptor of Colo320 cells and the transfected cells Colo320WT were assayed by RT-PCR.Colo320WT cells were treated by 10～8 mol/L Gastrin17 for 0h and 12 h;and after Colo320WT cells were infected by pAdhFRNK(MOI:100)for 2 d,the cells were treated by Gastrin17 for 12 h again.The expression levels of phosphorylated p190RhoGAP of Colo320WT cells were assayed by immuniprecipation and western blot.RhoA activation was assayed by pull-down.using GST-Rhotekin-RBD followed by RhoA blotting.Results When 10～8 mol/L Gastrin17 stimulated Colo320WT cells for 12 h,the expression levels of phosphorylated p190RhoGAP increased apparently and RhoA activation diminished.When pAdhFRNK infected Colo320WT cells for 2 d and 10～8 mol/L Gastrin17 treated the cells for 12 h,the expression levels of phosphorylated p190RhoGAP decreased apparently and RhoA activity was elevated.Conclusion hFRNK can inhibit expression of phosphorylated p190RhoGAP and enhanced RhoA activity in the cells stimulated with Gastrin17,and its mechanism is probably that hFRNK can block FAK phosphorylation and FAK pathway.