Infantile spasms is a type of refractory epilepsy syndrome.This epilepsy syndrome is characterized by special tonic spasms,a peculiar set of electroencephalographic findings termed hypsarrhythmia,and arrest of psychomotor development in most patients.The etiology is not clearly understood.Recently,mutations of the arista less related homeobox gene(ARX),cyclin-dependent kinase-like 5(CDKL5)/se-rine/threonine kinase 9 gene(STK9),membrane associated guanylate kinase 2 gene(MAGI2),et al,and abnormal chromosome had been found to be responsible for infantile spasms.In this review,progress of infantile spasms in molecular genetics are discussed.

Acute Disease ; Adenoviridae Infections ; epidemiology ; Adolescent ; Child ; Child, Preschool ; China ; epidemiology ; Humans ; Infant ; Infant, Newborn ; Respiratory Tract Infections ; epidemiology ; virology

Adolescent ; Antidotes ; therapeutic use ; Bridged-Ring Compounds ; poisoning ; Child ; Child, Preschool ; Female ; Follow-Up Studies ; Humans ; Infant ; Male ; Poisoning ; mortality ; therapy ; Survival Rate ; Treatment Outcome ; Unithiol ; therapeutic use

Objective To investigate the changes of epithelial sodium channel(ENaC) expression and sodium and water transport function in the neonatal rat pulmonary edema induced by hyperoxia.Methods The neonatal rats were randomly divided into the hyperoxia group and the control group.After 1,3,5 and 7 d hyperoxia exposure,the lung tissues were collected to measure the wet-to-dry weight ratio and the expression of α-,β-and γ-ENaC subunits were detected by western blot analysis.Alveolar fluid clearance (AFC) and amiloride-sensitive AFC were measured after 5 d to reveal the effect of hyperoxia on the activity of ENaC.Results The lung water contents significantly increased in the hyperoxia group indicating that pulmonary edemahappened(3 d:(6.37 ±0.64) vs (5.56±0.15),t=3.46,P＜0.01;5 d:(5.86 +0.52) vs (5.11±0.21),t=-3.82,P ＜0.01;7 d:(5.56±0.45) vs (4.80±0.09),t =-4.72,P ＜0.01).AFC increased significantly,but no significant difference was found in amiloride-insensitive AFC between the two groups which indicate that amiloride-sensitive AFC increased significantly (AFC:(20.32 ± 3.33) ％ vs (12.97 ± 2.46) ％,t =-6.16,P ＜ 0.01 ; amiloride-insensitive AFC:(10.42 ± 3.44) ％ vs (8.67 ± 3.13) ％,t =-1.30 P =0.21).The expression of α-,β-and γ-ENaC did not reduced after hyperoxia exposure compared with the control group.Conclusion Although bronchopulmonary dysplasia of early pulmonary edema induced by hyperoxia,dysfunctional transport of Na + may not be a key factor involved in pulmonary edema at the early stage of bronchopulmonary dysplasia.

[Objective]To investigate and compare the effects of standard gamma nail (SGN) and proximal femoral nail anti-rotation (PFNA) in the treatment of osteoporotic intertrochanteric fractures in the elderly.[Method]From May 2002 to September 2005,55 patients with intertrochanteric fractures were treated with SGN.Sixty-eight patients were treated with PFNA from November 2005 to June 2008.The effects of the two implants about perioperative complications,bone healing and the function of the operated hip joint were compared.[Result]No statistically significant difference was found between the two groups in blood loss,blood transfusion,infection,deep venous thrombosis and hospital stay.One patient developed femoral head avascular necrosis postoperatively in Gamma nail group.The incidence of postoperative hip pain in Gamma nail group was higher than that in the PFNA group,but there was no significant difference in the Harris score.[Conclusion]Gamma nail and PFNA nail are reliable methods to treat geriatric intertrochanteric fractures,with advantages of minimal iatrogenic injury,stable fixation and few complications.

Objective To study the MRI features of sporadic Creutzfeldt-Jakob disease(sCJD). Methods Three patients with clinically diagnosed sCJD underwent MR study,including SE T_1WI,FSE T_2 WI,and DWI sequences.The MR imaging features were analyzed.Results The lesions were not definite either in SE T_1 WI or in FSE T_2 WI,but were prominent in DWI.Abnormal hyperintensive signal appeared in the cerebral cortex,with the frontal,parietal,and occipital lobes being the mostly involved region.The subcortical white matter was normal.The bilateral caudate nuclei and thalami could also be involved.The abnormal signal could be either symmetrical or asymmetrical.There was diffuse atrophy of the brain parenchyma in the late phase of disease,especially in the cortex.Conclusion With the application of MR study,especially the DWI,combined with its characteristic clinical manifestation,the diagnosis of sCJD can be made definitely.

Objective:To evaluate the safety of Yangzhengxiaoji capsules for the treatment of cancer and precancerosis. Methods:Clinical trials and studies were collected by searching Chinese and English databases, including CNKI, WANFANG database, VIP information database, Pubmed, ScinenceDirect Online, and MEDLINE@EBSCO. The clinical data of Yangzhengxiaoji capsule for the treatment of cancer and pre-cancerosis were included. The quality of the included studies was then evaluated. Related data were extracted with reference to Cochrane Handbook 5.0. Afterward, meta-analysis was conducted using Revman 5.0 software. Results:A total of 19 studies focusing on 2 125 patients receiving Yangzhengxiaoji capsules were included and investigated in this meta-analysis. Results showed that the adverse reaction rates of myelosuppression, WBC and platelet decrease, gastrointestinal reaction, nausea/vomiting, and hepatotoxicity were sig-nificantly lower in the trial groups with Yangzhengxiaoji capsule-assisted chemotherapy/radiotherapy than in the control groups with chemotherapy/radiotherapy only (P<0.05). The adverse reaction rates of nephrotoxicity, cardiotoxicity, and neurotoxicity were not statistically different between the trial groups and the control groups (P>0.05). Conclusion:Yangzhengxiaoji capsule could be safely administered to treat cancer and precancerosis.

Objective To investigate the effect of hyperoxia on fluid transport by fetal distal lung epithelia(FDLE) and the expression of epithelial sodium channel(ENaC) in these cells.Methods FDLE were isolated and randomized into hyperoxia group and normoxia group,which were primarily cultured under hyperoxic or normoxic conditions,respectively.Fluid transport was measured using monolayers of FDLE cultured on Transwell permeable inserts.Western blot was applied to examine the α-ENaC expression.Results Fluid transport across monolayer of FDLE was increased in cells exposed to hyperoxia compaired with cells cultured in normoxic conditions (1.78 ± 0.19 vs 1.06 ± 0.11,P ＜ 0.001).Amiloride significantly decreased the fluid transport in both of the hyperoxia and normoxia groups,but in the presence of amiloride there were no difference between the two groups.The expression of α-ENaC was inhibited by hyperoxia to some extent(24h:0.44 ±0.04 vs 0.40 ±0.04,P=0.22; 48h:0.35 ±0.03 vs 0.47 ±0.06,P =0.03).Conclusion Hyperoxia enhanced total and amiloride-sensitive fluid transport by FDLE.However,the expression of α-ENaC decreased in these cells.

Objective To resolve the problem of low speed and high failure rate of SMS.Methods The SMS module was separated,and the appointment registration system and SMS device were taken apart.Results The separate SMS platform for appointment registration system was established.Conclusion The response speed of the appointment registration system is enhanced greatly.

Objective To study the clinical significance of combined routine ultrasound and ultrasound elastography in diagnosing thyroid microcarcinoma so as to facilitate the diagnoses of the thyroid diseases of the pilot.Methods Totally 284 thyroid nodules with the sizes less than 1 cm underwent routine ultrasound and ultrasound elastography examinations from June 2013 to June 2016.Results There were 221 benign nodules (77.8％) and 63 malignant ones (22.2％) confirmed by FNAC cytological,surgical and pathological examinations.Of the 63 malignant nodules,there were 60 cases of thyroid papillary carcinoma,one case of follicular carcinoma and two cases of medullary carcinoma.There was significant difference between the strain ratios of the benign and malignant nodules (P＜0.05),the ultrasound elastography scores of the benign nodules were statistically different from those of the malignant nodules (P＜0.05).The sensitivity,specificity and accuracy of ultrasound elastography were 90.3％,83.2％ and 86.9％ respectively when used to diagnose the thyroid nodule with the size less than 1 cm.Conclusion Routine ultrasound combined with ultrasound elastography can improve the diagnosis accuracy of small thyroid cancer,and is of great significance in early diagnosis and treatment of thyroid cancer of the pilot.