As one of the most serious hereditary neuromuscular disease, spinal muscular atrophy (SMA) is caused by the loss or mutation of survival motor neuron 1 (SMN1) gene. It leads to a decrease in the level of SMN protein and a consequent loss of alpha neurons and progressive muscle atrophy resulting in the progressive muscle weakness, the significant disability and the shortened lifespan. Up till now, only three drugs have been approved for SMA, including the gene therapy drug onasemnogene abeparvovec. The antisense oligonucleotide drug nusinersen and and the small molecule chemical drug risdiplam were briefly introduced. Some representative samples of the small molecule chemical drugs and antisense oligonucleotide drugs targeting SMN2 in the clinical trial or preclinical research phases were also reviewed.

Adult ; Antibiotics, Antineoplastic ; therapeutic use ; Benzamides ; Blast Crisis ; drug therapy ; Drug Resistance, Neoplasm ; Humans ; Imatinib Mesylate ; Leukemia, Myelogenous, Chronic, BCR-ABL Positive ; drug therapy ; Male ; Piperazines ; pharmacology ; Pyrimidines ; pharmacology ; Sirolimus ; therapeutic use

Objective To explore the operation timing and technique selection of floating knee injury in children.Methods According to Letts types,36 cases were divided into 5 types.The function outcome in every group was compared by Karlstrorm criterion according operation timing or technique selection respectively.Results Thirty-six cases were followed up for an average of 25 months(19 to 84 months).The rate of excellent and good results accounted for 94.12%(16/17) in one stage operation,78.95%(15/19)in stages,60%(6/10)in 2 stages,respectively.Conclusions It may be recommended to treat children with floating knee injury with open reduction intenal fixation or external fixation.The best operation time shall be urgent treatment of both femur and tibia fracture.

Adult ; Ear Canal ; Female ; Hearing Loss, Conductive ; surgery ; Humans ; Male ; Mastoid ; surgery ; Middle Aged ; Postoperative Period ; Tympanoplasty

Posterior capsule opacification (PCO) is the most common complication after cataract surgery.How to prevent and treat PCO is an urgent problem we need to solve at present.Non-coding RNA(ncRNA) is a kind of RNA, which can not encode proteins.Studies have shown that non-coding RNA is closely related to the occurrence and development of human diseases.This paper has collected the progress of research on different kinds of ncRNA in PCO and may raise new ideas and methods on the prevention and treatment of PCO.

Cell Differentiation ; drug effects ; Cells, Cultured ; Fetal Blood ; cytology ; Fibroblast Growth Factor 4 ; pharmacology ; Hepatocyte Growth Factor ; pharmacology ; Hepatocytes ; cytology ; Humans

Objective To study the effect of dexmedetomidine and midazolam on hemodynamics and sedation in patients with nasal intubation.Methods Forty patients whose ASA grade Ⅰ-Ⅱ and anticipated difficult airway were randomly divided into dexmedetomidine group(group D,20 cases)and midazolam group(group M,20 cases)according to the admission number.In group D,dexmedetomidine 1 μ g/kg were constant speed pumped in 10 minutes.In group M,midazolam 0.03 mg/kg were intravenous injected.Then nasal intubation were carried.Systolic blood pressure(SBP),diastolic blood pressure(DBP),mean arterial blood pressure(MAP),heart rate(HR),pulse oxygen saturation(SpO2),Ramsay sedation score,rate-pressure product(RPP),tip perfusion index(TPI)were recorded and compared before anesthesia (T0),fiberoptic bronchoscope pass by later nostril(T1),to spy on epiglottis(T2),intubation succeed(T3),after intubation 1 minute(T4)and after intubation 3 minutes(T5).Airway score and postoperative visit were evaluated.Results SBP,DBP,MAP,HR,RPP in group M were significantly higher at T1-T3 than those at T0 (P＜0.05),and were significantly higher than those in group D at the same time(P＜ 0.05).There was no significant difference in group D(P ＞ 0.05).Ramsay sedation score and TPI at T1-T3 in group M were significantly lower than those at To(P ＜0.05).Ramsay sedation score and TPI at T1-T5 in group D were significantly higher than those at T0(P ＜ 0.05),and were significantly higher than those in group M at the same time(P ＜ 0.05).The rate of airway score 1 score and intubation satisfaction in group D were significantly higher than those in group M[100％(20/20)vs.30％(6/20),90％(18/20)vs.50％(10/20)](P＜ 0.05).The rate of throat ache in group D was significantly lower than that in group M[5％(1/20)vs.35％(7/20)](P ＜0.05).Conclusions For difficult airway patients with nasal intubation during dexmedetomidine infusion,hemodynamics is stable and sedation is satisfied.

Objective To observe the effects of fosinopril(FOS),a new generation angiotensin-converting enzyme inhibitor(ACEI),on protein and mRNA expression of transforming growth factor-?_1(TGF-?_1) of rat glomerular mesangial cell(GMC) induced by lipopolysaccharide(LPS);to demonstrate the preventive mechanism against glomerular sclerosis by applying FOS.Methods The cultured GMC in classic way were divided into 3 groups:control group;LPS group;LPS+FOS group.TGF-?_1 concentration in GMC supernatant fluid was detected by ELISA;TGF-?_1 mRNA expression was determined by semiquantitative real-time RT-PCR.Results LPS group was obviously higher than control groups in TGF-?_1 secretion and mRNA expression,while LPS+FOS group decreased distinctively in TGF-?_1 secretion and mRNA expression compared with LPS group.Conclusions FOS has obviously inhibited on TGF-?_1 expression of rat GMC both at protein level and mRNA level,which reveals that it may be an important mechanism by FOS on restraining the development of glomerulosclerosis.

Objective To compare adductor canal block(ACB)with topical anesthesia for postoperative analgesia in the patients undergoing arthroscopic knee surgery.Methods Sixty patients of both sexes,aged 18-64 yr,with body mass index of 18-30 kg/m2,of American Society of Anesthesiologists physical status ⅠorⅡ,scheduled for elective arthroscopic meniscectomy,were divided into 2 groups (n=30 each) using a random number table:ACB group and topical anesthesia group(TA group).In group ACB,0.2% ropivacaine 20 ml was injected into the adductor canal under the guidance of ultrasound at 30 min before operation to perform ACB.In group TA,0.25% ropivacaine 20 ml was injected into the articular cavity at 5 min before the end of operation.The development of effective analgesia (VAS scores ≤4)and weakened quadriceps femoris muscle strength(muscle strength 0-2 grade,post-operative muscle strength was assessed by using manual muscle testing),related complications(local anesthetic intoxication,bleeding at the puncture site and hematoma) and occurrence of postoperative nausea,vomiting and delayed emergence were recorded.Results Compared with group TA,the rate of effective analgesia within 12 h after surgery was significantly increased (P<0.01),and no significant change was found in the incidence of weakened quadriceps femoris muscle strength,nausea and vomiting in group ACB(P>0.05).Local anesthetic intoxication,bleeding at the puncture site,hematoma or delayed emergence was not observed in the two groups.Conclusion ACB produces better efficacy for postoperative analgesia than topical anesthesia in the patients undergoing arthroscopic knee surgery.

ObjectiveTo investigate the effect of out-patient training combined with family training under doctor's instructions on children with cerebral palsy (CP).Methods80 CP children were selected as treatment group and trained one to three months by therapists at out-patient department, then continually trained at family by parents who received doctor's instructions 30 min once every two or three months. 60 CP children in hospital were selected as control group. Rehabilitative effects of two groups were compared.ResultsIn the first and third month after training completed, movement growth of treatment group was not different from that of control group (P>0.05), but in the sixth month, was significant different from that of control group (P<0.05). The effect of treatment group was better than that of control group.ConclusionOut-patient training combined with family training under doctor's instructions can decrease treatment expenses, and is convenient and effective for CP children.