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 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 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 evaluate the safety and efficacy of clinical application of three-dimensional printing technology (3D printing) in Orthopedics.Methods The safety and effectiveness of clinical application of three-dimensional printing technology in Orthopedics were analyzed by systematic review of non-control studies.Results Non-control studies showed that cortical perforation rate of screws was 3.83％ (calculated by the number of screw).Complication rate was 2.13％,surgical infection rate was 0.28％,prosthesis problematic rate was 0.79％,the average operation time was 139.23 minutes,and some results of the indicators for safety and effectiveness were similar between studies with and without control groups.Conclusion Although 3D printing application in Orthopedics has some clinical value,and its extension needs economic assessment.

Objective To assess the effect of clinical application of three-dimensional printing technology (3D printing) in Orthopedics.Methods Comparing the effect of clinical application of three-dimensional printing technology with traditional Standardized technology,through using a systematic review and Meta Analysis.Results Meta analysis of 25 studies included in the research showed that application of 3D printing reduced operation time by 26 minutes,decreased intraoperative blood loss by 77 ml,and increased accuracy rate or success rate of screw implanting(increased by 2.10 times compared with tradit onal standardized technology).Conclusion The application of 3D printing in Orthopedics has good short-term effect But its deVelopment in clinical application should be cautious.

Objective To study onclinical researches of 3D printing technology in Orthopedics.Methods Through literature search,107 literatures were included and systematically reviewed,and the status of clinical researches of 3D printing technology in orthopedics was described.Results The clinical researches of 3D printing technology in Orthopedics were mainly focused on males and adults population conducted from 2007 to 2012.3D printing technology frequently used in Orthopedics were reduction and internal fixation,deformity correction,pedicle screw placement,tumor resection,revision and reconstruction,and knee replacement.Conclusion 3D printing technology in Orthopedics is still at an initial stage of clinical development.

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.