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.

Objective To dynamically observe the concentrations of plasma neuropeptide Y(NPY)in the patients with lower extremity arteriosclerosis obliterans(ASO)before and after vascular interventional therapy.Methods The levels of plasma NPY were detected by radioimmunoassay in 13 patients with lower extremity ASO(ASO group)before vascular intracavitary therapy and immediately,1 d,3 d and 5 d after vascular intracavitary therapy.Meanwhile,15 healthy subjects were served as control group.Besides,the ankle-brachial indexes(ABI)and clinical staging of ASO group were also obtained and compared before and 3 d after vascular intracavitary therapy.Results Compared with control group,the level of NPY in ASO group was much higher before vascular intracavitary therapy[(250.67?88.27)pg/mL vs(168.40?64.64)pg/mL,P

Cells, Cultured ; Fibroblasts ; cytology ; drug effects ; metabolism ; Humans ; Lung ; cytology ; metabolism ; Macrophages, Alveolar ; metabolism ; Matrix Metalloproteinase 2 ; metabolism ; Matrix Metalloproteinase 9 ; metabolism ; Silicon Dioxide ; toxicity ; Silicosis ; metabolism

Objective To explore the measures to prevent recurrent laryngeal nerve (RLN)injury during thyroid surgery.Methods The clinical data of 223 patients undergone thyroid surgery were retrospectively analyzed.Among the 223 surgeries,69 sides were undergone regional protection act of RLN and 191 sides were performed RLN exposure.Results There were 2 cases of RLN injury from the regional protection operation of RLN,including 1 case of temporary nerve injury which could be resulted from surgery clamp and 1 case of permanent nerve injury which might be caused by mistaking ligation during surgery.There was only 1 case of temporary nerve injury in RLN exposure procedure which was probably caused by the postoperative nerve edema and was recovered 2 months after the operation.The total RLN injury rate was 1.35％.Conclusion For benign thyroid lesions and non-dorsal lesions or during partial excision of the gland,the regional protection of RLN is helpful to prevent RLN injury.In cases with dorsal lesions of thyroid or contralateral RLN injury,or during lobe subtotal resection,lobe resection and reoperation,exposing RLN to prevent injury is necessary.Taking different approaches based on the profiles of lesions and surgical procedures to prevent RLN injury can significantly reduce the risk of RLN injury.

Adult ; Bronchoalveolar Lavage ; methods ; Humans ; Male ; Middle Aged ; Pneumoconiosis ; therapy ; Treatment Outcome

Objective To find out the endoscopic characteristics of peptic ulcer disease in Monglian area.Methods 15826 cases in hospital within past 17 years were retrospectively analyzed.Results In all endoscopic cases,2298 cases of peptic ulcer were found,the detecting rate was 14.52%.Among them,58.98%(1376 cases) were of duodenal ulcer,32.16%(739 cases) were of gastric ulcer,7.96%(183 cases) were of complex ulcer.The detecting rates of male and female patients were 18.53% and 8.06% respectively,Monglian and Han nationalities were 18.43% and 13.15% respectively.Conclusions The detecting rate of peptic ulcer in Monglian nationality is higher than in Han nationality at Monglian area,has singnificant difference(P

This article was aimed to study the factors associated with sleep quality of anger-out and anger-in population based on the frequent pattern-tree (FP-Tree) growing algorithm with data mining. The algorithm of structuring frequent model FP-tree and mining frequent itemsets were designed. The database information scanned was recorded by using FP-Tree growing algorithm through state-trees. The frequent itemsets met minimum support required was generated through reducing the search space of project sets and scanning database only one. The data mining of all factors associated with emotional diseases was actualized. The results showed that factors associated with sleep quality of anger-out and anger-in population were disturbance in respiration, cough or snoring, feeling cold, hot or nightmares. The total time for program analysis was 2 seconds. It was concluded that data mining algorithm based on FP-Tree frequent itemsets can effectively realize the useful information receiving from factors associated with emotional diseases.

Adult ; Aged ; Anthracosis ; complications ; Humans ; Male ; Middle Aged ; Pulmonary Emphysema ; diagnosis ; etiology ; Respiratory Function Tests ; Tomography, X-Ray Computed

Posterior pilon fracture is a special and unique type of ankle fracture,and its injury mechanism and treatment principles are different from those of the trimalleolar fracture in the Lauge-Hansen classification,and also different from those described for the classic pilon fracture.The fractures have a low incidence and generally poor prognosis.The prevalence of posterior pilon fractures is 6.4％ of all trimalleolar fractures,and 5.6％ of all pilon fractures based on computed tomography images.The pathological features of posterior pilon fractures are different from those of the traditional ankle fracture and the classic pilon fracture,and it is very important to differentiate a posterior pilon fracture from the others.Because of the low incidence and high variation in fracture morphology,there is controversy over the practicable classification of posterior pilon fractures based on clinical features,such as injury mechanism,fracture classification and surgical approach.An ideal fracture classification system can reveal the injury mechanism and severity,guide the treatment,and predict prognosis.At present,no classification method is based on the injury mechanism,and none can summarize fracture morphology and guide treatment.The purpose of this study was to review the injury mechanism,clinical characteristics,classifications,treatments,and outcomes of posterior pilon fractures,to promote surgeons’ understanding of posterior pilon fracture and reduce perioperative complication.