Objective:To report a case of developmental epileptic encephalopathy caused by CACNA1E gene mutation and explore C Clinical phenotype and prognosis of 2069G>A (p.Gly690Asp) locus.Methods:The clinical data and follow-up of a case of developmental epilepsy related to CACNA1E gene mutation admitted to the Maternity And Children Health Hospital of Xiangtan City in September 2020 were summarized and analyzed.Results:The male patient, with delayed intellectual and motor development, sought medical attention and gradually developed seizures. The genetic results showed that the CACNA1E gene c. 2069G>A (p.Gly690Asp) was a newly discovered variant, and the parental site was a wild-type. Based on clinical manifestations, the diagnosis was a pathogenic variant.Conclusions:Developmental epileptic encephalopathy caused by mutations in the CACNA1E gene can have intellectual and motor impairments as the initial manifestation; Site C 2069G>A (p.Gly690Asp) presents with severe epilepsy and poor prognosis, with the possibility of brain atrophy. The combination of valproic acid and clonazepam may be effective in treating epilepsy.

OBJECTIVE: To explore the correlation between endothelial microparticles(EMPs) and subacute 1,2-dichloroethane(1,2-DCE) toxic encephalopathy. METHODS: A total of 24 patients with subacute 1,2-DCE toxic encephalopathy were selected as the case group, and 24 healthy individuals were selected as the control group using a convenient sampling method. Blood plasma was collected from the fasting venous blood of patients in these two groups, and the level of EMPs in the plasma was detected by flow cytometry. RESULTS: The levels of plasma EMPs of patients in the control group and the case group were(692.0±174.4) ×10~3/L and(839.8±155.8) ×10~3/L respectively. The levels of plasma EMPs in patients with mild, moderate and severe case subgroups were(691.6±101.9) ×10~3/L,(900.6±46.6) ×10~3/L and(1 026.8±69.8)×10~3/L respectively. The EMPs level of patients in the case group was higher than that of the control group(P<0.01). The level of EMPs in the moderate and severe case subgroups was higher than that of the control group and mild case subgroup(P<0.01). CONCLUSION: Endothelial injury was found in patients with subacute 1,2-DCE toxic encephalopathy and endothelial injury is related to the severity of poisoning.

Objective:To investigate the clinical value of ankle-brachial index (ABI) in evaluating vascular cognitive dysfunction (VCI) in the elderly.Methods:According to the mini mental state examination (MMSE) and Montreal cognitive assessment (MoCA), 200 elderly inpatients from May 2016 to February 2018 in our hospital were selected. MoCA scale was used to evaluate the cognitive function of the patients. The patients were divided into cognitive dysfunction group ( n=110) and cognitive normal group ( n=90). The clinical data of the two groups were analyzed and compared. The correlation between ABI and MMSE, MOCA and clinical indicators was observed. The receiver operating characteristic (ROC) curve of ABI value to the predictive value of VCI in the elderly was drawn. Results:⑴ There was no significant difference between the two groups in terms of gender, the first fasting blood glucose value in hospital and the situation of diabetes, hypertension and hyperlipidemia ( P>0.05); there was significant difference in age, low-density lipoprotein cholesterol (LDL-C) level, history of small cerebral vessels and ABI between the two groups ( P<0.05). ⑵ Logistic regression analysis showed that ABI was the related factor of VCI in the elderly ( P<0.01). ⑶ Pearson correlation analysis showed that MMSE score was positively correlated with ABI ( r=0.887, P<0.01), MOCA score was positively correlated with ABI ( r=0.843, P<0.01). ⑷ The area under ROC curve of ABI prediction value for VCI in the elderly was (0.965±0.01) [95% CI (0.945, 0.985), P<0.01]. When ABI ≤0.9, the sensitivity and specificity were 88.2%, 91.1% respectively; the accuracy and the yordan index were 89.5% and 0.793. Conclusions:⑴ ABI is an influencing factor of VCI in the elderly and is positively correlated with the severity of cognitive impairment in patients. ⑵ ABI has a high predictive value for VCI of the elderly, and ABI≤0.9 can be used as an early warning factor for VCI of the elderly.

Objective To investigate the related factors of central regional lymph node metastasis (CLNM) in patients with papillary thyroid microcarcinoma (PTMC).Methods The clinical and pathological fea tures of 550 cases of PTMC with clinical lymph node negative (cN0) were retrospectively analyzed.x2 test and multivariate logistic regression analysis were used to analyze the related factors of CLNM.ROC curve was used to analyze tumor diameter and CLNM of PTMC.Results The CLNM rate was 35.6％.Univariate analysis showed that patients aging less than 45 y(x2=13.983,P＜0.001),with tumor diameter≥7 mm (x2=14.263,P＜0.001),with capsule invasion (x2=7.316,P=0.006),multifocality (x2=14.321,P＜0.05) and bilateral tumors (x2=9.265,P=0.002) were more likely to have CLNM.Multivariate Logistic regression analysis showed that age ＜45 y,tumor diameter ≥7 mm,invasion of capsule and multifocal are all independent risk factors of CLNM for patients with PTMC.The optimal cutoff value of CLNM by diameter was 8 mm.Conclusion The CLNM of PTMC is related to many factors.When the age of the patient is less than 45 y,the diameter of the tumor is more than 7 mm,the invasion of the capsule and the multifocal lesion,the central lymph node dissection should be performed.

Objective: To explore the entry points and monitoring points of individualized treatment for fracture surgery patients with ARDS.Methods: Clinical pharmacists comprehensively assessed the patient's conditions and looked up lots of literatures.Some suggestions on the anti-infection treatment efforts, glucocorticoid use dispute and rational use of ambroxol were offered.The efficacy and adverse reactions of drugs in the treatment process were monitored using some subjective and objective indicators.Results: The consensus about the pros and cons, dosages, as well as the possible dosage decrease of glucocorticoid therapy, the dosages of antimicrobial agents, and the dosages and treatment course of ambroxol was achieved between clinical pharmacists and doctors.As a result, the maximum benefits were obtained for the patient.Conclusion: Clinical pharmacists can explore the treatment and monitoring for specific diseases and find out intervention entry points of clinicians and patients to play a certain role in clinics, and accumulate treatment experience gradually.

Objective To evaluate the effect of long term home non-invasive positive pressure ventilation (HNIPPV ) in stable severe chronic obstructive pulmonary disease (COPD) .Methods Forty-two patients with stable severe COPD after hospital dis-charge were divided into 2 groups :The observation group (conventional treatment + HNIPPV ,22 patients) and control group (con-ventional treatment ,20 patients) .Parameters before and after one year follow-up observation were compared ,which includes arterial bloods gases ,lung function test ,6-min walking distance(6MWD) ,dyspnea grade ,scoring for emotional disorders ,the hospitalization rates .Results PaCO2 ,PaO2 ,6MWD ,dyspnea grade ,scoring for emotional disorders ,the hospitalization rates improved after one year in the observation group (P < 0 .05) .There were no significance of FVC and FEV1 between the two groups after one year . There were no patients who were dead or exited with other reason after one year in the two groups .Conclusion Long term HNIP-PV could decrease exacerbations ,respiratory failure and increase life quality ,this therapy is effective and safe for patients with sta-ble severe COPD .

Objective To investigate the effects of huaier granules on invasion and metastasis of colorectal cancer SW480 cells in vitro, and explore the basic mechanism. Methods The appropriate concentration and duration of huaier granules promoting SW480 cell apoptosis were determined by SubG1 method. Wound healing assay and transwell assay were used to observe the effect of huaier granules on SW480 cell invasion and metastasis. The changes of E-cadherin, twist, snail and vimentin at protein and mRNA levels were examined by Western blotting and Real-Time PCR. Results After treatment with huaier granules at 3. 0 g·L-1 for 36 h, apoptosis of SW480 cells was most significant, and wound healing assay revealed that relative mobility was (31. 36±2. 39)%, compared with (61. 11±1. 09)% in control group (P<0. 01). Number of invaded cells per field of view was (129±12) in treatment group and (354±20) in control group (P<0. 01). After treatment with huaier granules at 3. 0 g·L-1 for 36 h, protein and mRNA levels of E-cadherin were increased, while those of twist, snail and vimentin were decreased. Conclusion Huaier granules can inhibit invasion and metastasis of colorectal cancer SW480 cells in vitro through effectively depressing epithelial-mesenchymal transition.

Objective To study the rule of lymph node metastasis rate in cN 0 papillary thyroid microcar-cinoma( cN0-PTMC) and to evaluate an appropriate region of neck dissection .Methods Data of 233 cases of cN0-PTMC were retrospectively analyzed .Univariate analysis with chi-square test was used to analyze the statisti-cal correlation between gender , age, tumor diameter and lymph node metastasis respectively .Results 81 out of 233 patients(34.8%)had cervical lymph node metastasis (30.0%in central region and 9.9%in lateral region). For patients with tumor diameter ( D)≤5 mm and D>5 mm, lymph node metastasis rate in central region was 21.6%and 36.6%(χ2 =6.199,P<0.05) and it was 4.9% and 13.7% respectively in lateral region (χ2 =5.035,P<0.05).For male and female patients, lymph node metastasis rate in central region was 42.1% and 26.1%respectively(χ2 =5.224,P<0.05), and it was 21.1% and 6.3% respectively in lateral region (χ2 =10.604,P<0.01).Lymph node metastasis rate in patients≤45 years old and >45 years old was 37.9% and 21.1% respectively (χ2 =7.792, P <0.01 ) .The lateral region lymph node metastasis rate was 17.1% and 6.7%when the central region lymph node was infringed or not (χ2 =5.947, P<0.05).Conclusions All cN0-PTMC patients should have a normative central neck dissection .Male patients with PTMC and tumor diameter >5 mm should receive the lateral neck lymphoid tissue exploration during surgery in order to find subclinical metas -tasis.

OBJECTIVE: Through preoperative temporary balloon occlusion of internal carotid artery and monitoring of carotid artery stump pressure variation, in order to further predict the risk of carotid artery ligation and resection, evaluation operative risk and provides the reference for the choice of surgical approach. METHOD: Continuous monitoring and recording the carotid artery stump return pressure,before clamping and in the process of blocking, close observation the patients mental state and the nervous systemof all kinds of signs, in the process of blocking, to understand the dynamic change of stump artery pressure return in patients and whether can the smooth passage of carotid artery balloon occlusion test. RESULT: Of the 19 patients, 4 cases were positive, 15 negative cases, Blocking immediate the positive patients and negative patients with stump pressure drop was (57. 35 ± 1. 89) % and (38. 99 ± 12. 23) %, with statistical significance between the two, in the process of blocking, the mean stump pressure of the positive patients and the negative patients was (37. 29 ± 3. 15) mmHg and (61. 36 ± 14. 69) mmHg, with statistical significance between the two. CONCLUSION Approximately 21. 05% of patients can not tolerate carotid artery balloon occlusion test, theory for carotid artery reconstruction operation. After blocking the stump pressure is less than 40. 44 mmHg, the theory for reconstruction of the internal carotid artery operation. Blocking instant artery stump pressure dropped more than 55. 46%, in theory the need for internal carotid artery reconstruction.
Balloon Occlusion ; Blood Pressure ; Carotid Artery, Internal ; surgery ; Feasibility Studies ; Humans ; Ligation ; Preoperative Care ; Risk Assessment ; Vascular Surgical Procedures

Objective To study the anatomic landmarks of recurrent laryngeal nerve (RLN) in minimally invasive video-assisted thyroidectomy (MIVAT), and to evaluate the operative skills to avoid nerve injury. Methods 106 patients were enrolled in the study dated between August 2008 and August 2010, in which 8 patients were converted to the conventional thyroidectomy. Intraoperative anatomic landmarks for location of RLN were the gap between trachea and carotid artery (GTC), as well as the middle and posterior portion of tracheal wall. Results 98 RLN were at risk, and 97 (98.98 %) nerves were recognized by means of two landmarks. 1 nerve failed to locate which was non-recurrent laryngeal nerve. Temporary RLN paralysis happened to 1 nerve(1.02 %), and no permanent RLN paralysis appeared. Conclusion GTC combined with middle and posterior portion of tracheal wall are safe and effective anatomic landmarks to locate RLN in MIVAT.