Type Ⅰ sialidosis is a neurosomatic disorder related to the storage of lysosomal and induced by shortage of neuraminidase. It is an autosomal recessive disorder, maybe heterogeneous in its onset, clinical manifestations and prognosis. A case of type Ⅰ sialidosis with a missense mutation in the α-N-acetyl-neuraminidase (NEU1) gene is reported. The patient was characterized by reduced visual acuity, ataxia and subcortical myoclonus. Although the macular cherry red spots were not detected in the male patient, his bilateral visual evoked potential showed severely prolonged latencies of P100, which was consistent with continuous decline of his visions. Finally, he was treated with carbamazepine and clonazepam with moderate improvement in the symptom of myoclonus. In order to make the definite diagnosis, the importance of a clinical history integrating all the patient′s clinical manifestations and the mutation in NEU1 gene was highlighted. Regardless of being an uncommon disorder, the burden for those patients with sialidosis was significant. Therefore, this diagnosis in the relevant setting should always be considered.

Objective:To investigate the feasibility and safety of submaximal balloon dilation and to perform small-diameter stent for symptomatic carotid artery severely stenosis before coronary artery bypass grafting(CABG).Methods:From January 2016 to December 2019, 30 patients of the Department of Neurointervention in Beijing Anzhen Hospital with symptomatic carotid artery stenosis(≥70%) and the left main trunk or triple-vessel of coronary artery disease were analyzed retrospectively. General information, clinical characteristics, and imaging data of all cases were collected. All patients underwent submaximal balloon dilation and small-diameter stent implantation. Preoperative comorbidities or risk factors included hypertension 23 cases(76.7%), diabetes 10 cases(33.3%), hyperglycemia 14 cases(46.7%), moking 13 cases(43.3%). Left main trunk disease 6 cases(20.0%), three-vessels disease 24 cases(80.0%), mitral regurgitation 1 case(3.3%), stable angina 25 cases(83.3%), myocardial infarction 8 cases(26.7%), cerebral infarction 24 cases(80.0%) and transient ischemia attack(TIA) 6 cases(20.0%) caused by ipsilateral carotid artery stenosis. The median National Institutes of Health Stroke Scale(NIHSS) score was 2(0-3), and the median modified Rankin Scale(mRS) score was 1(0-1) before the operation. The mean interval between carotid artery intervention and CABG was(23.4±8.2)days.Results:29 cases(96.7%, 29/30) underwent CAS-CABG operation successfully. In one case of carotid artery extreme tortuosity, the emboli protective device could not place the distal carotid artery. In the operative procedure, 27 cases(90.0%, 27/30) underwent with 3mm diameter balloon, only 3 cases(10.0%) with 3 mm balloon after pre-dilatation with 2 mm diameter balloon because of severely high-grade stenosis(99%). 25 cases(83.3%) with 7mm diameter stents and 5 cases(16.7%) with 6 mm diameter stents, including 22 cases(73.3%) with a closed-cell stent and 8 cases(26.7%) with an open-cell stent. In the perioperative period, the heart rate of two patients was lower than 50 BPM during operation and returned to normal after using atropine immediately. Another patient presented with chest tightness during interventional therapy. TNI elevation was examined urgently. After oxygen inhalation and intravenous infusion of Nitroglycerin, the patient's symptoms improved rapidly. No cardiac and cerebrovascular complications occurred during the perioperative period of CABG, no cardiac-related complications occurred within 30 days of follow-up, one case of TIA and 1 case of cerebral infarction. After intensive anti-platelet aggregation and lipid-lowering treatment, two patient's symptoms improved. There were no death cases in all patients during carotid artery interventional therapy, perioperative CABG and 30-day follow-up. Thirty days later, we performed a clinical follow-up of 23 cases, median 4.5(3.0-7.9) months, mRS Score Median 1(0-1). One patient presented with TIA, any patient had no symptoms of the cardiac or nervous system. Image follow-up of 17 cases, median 3.5(2.8-4.5) months, carotid artery ultrasound showed in-stent restenosis(stenosis rate>50%) in 1 case, the patient was asymptomatic restenosis, continue treatment of aggressive anti-platelet and lipid-lowering drugs.Conclusion:Submaximal balloon dilation and performing small-diameter stent for symptomatic carotid artery severely stenosis before CABG is safe and feasible, which could not only reduce the incidence of vagus reflex resulted in acute coronary syndrome during carotid artery stenosis intervention but also morbidity of acute ischemic stroke events during CABG.

Objective:To retrospectivly study the complications of shoulder arthroscopy surgery in different postures. Methods:A total of 47 patients had taken shoulder arthroscopy surgery. Complications of shoulder arthroscopy surgery in lateral decubitus posture and beach chair posture were compared. Results:Both surgery postures could be taken to complete the shoulder arthroscopy surgery, but beach chair posture was better because of the lower complication rate. Conclusion:Beach chair posture is a better choice for shoulder arthroscopy surgery, which is easy to operate and is also recommended for patients who may be taken the open sugery.

Objective: To evaluate the clinical efficacy of proximal femoral nail antirotation (PFNA) in treatment of elderly incompleted inner wall type intertrochanteric fracture. Methods:The medical records of 33 patients with incompleted inner wall type intertrochanteric fractures were analyzed retrospectively. The incision length,blood loss,operative time,volume of drainage,start standing time,fracture healing time,abnormal rate of femur and complications were summarized,and the clinical effects were also evaluated according to Harris standard. Results:A total of 31 patients achieved complete follow-up data. The fracture healing time and clinical excellent rates were (12.5 ± 3.5) weeks and 90.3%. The abnormal rate of femur operative time, incision length, blood loss, operative time, volume of drainage, and start standing time were 12.9%,(4.3 ± 2.7) cm,(50.2 ± 35.0) ml,(40.3 ± 12.7) min,(30.5 ± 9.6) ml and (10.3 ± 5.7) d. Conclusion:PFNA fixation is an ideal method for treatment of elderly incompleted inner wall type intertrochanteric fractures, with small incision, shorter operative time, shorter fracture healing time, shorter bed rest time and less complications.

Objective To explore the clinical efficacy of percutaneous vascular forming and stenting in patients with severe stenosis combined with cerebral infarction.Methods The clinical data of 74 patients with severe carotid stenosis combined with cerebral infarction,admitted to our hospital from January 2011 to January 2014,were analyzed;and according to the treatment methods,all patients were divided into operation group (percutaneous angioplasty and stenting,n=37) and non-operation group (conventional therapy,n=37).Follow-up was performed one,3 and 6 months after discharge,and the prognoses of these patients were evaluated with NIHSS and mini-mental state examination (MMSE).Results Before treatment,the rate of carotid artery stenosis,NIHSS scores and MMSE scores in the two groups showed no significant differences (P＞0.05).After treatment,stenosis rate of the operation group ([32.35±4.15]％) was significantly lower than that in the non-operation group ([72.32±7.72]％,P＜0.05).One month after treatment,the MMSE scores in the operation group (22.24±2.74) were significantly higher than those in the non-operation group (20.29±3.15,P＜0.05).Three months after treatment,the NIHSS scores in the operation group (7.05±1.35) were significantly lower than those in the non-operation group (8.89±1.76,P＜0.05).Conclusion Percutaneous vascular forming and stenting can help to achieve favorable outcome in patients with severe stenosis combined with cerebral infarction,which achieves better effect than conventional therapy.

Objective:To evaluate the safety and clinical efficacy of Neuroform EZ stent in the treatment of severe intracranial atherosclerotic stenosis (ICAS).Methods:A total of 36 patients with severe ICAS receiving Neuroform EZ stent angioplasty were retrospectively analyzed at Beijing Anzhen Hospital from July 2018 to January 2020. Digital subtraction angiography (DSA) before endovascular intervention confirmed the diagnosis. Follow-up information was reviewed by neurologists at 30 days and 6 months after the procedure. The primary endpoints were transient ischemic attack (TIA), ischemic or hemorrhagic stroke and death caused by any reason within 30 days.Results:The overall technical success rate was 100%. The median stenosis rate was reduced from 93.6%±4.5% to 18.8%±11.2% ( t=37.36, P<0.001).Primary endpoint event was not reported. During follow-up, one patient developed TIA and no death or ischemic stroke was observed. No in-stent restenosis at six months occurred. Conclusion:Neuroform EZ stent is safe and effective in patients with severe ICAS. However, perspective studies need to be operated for further validation via long-term follow-up.

BACKGROUND:The use of 3D-printed patient-specific instruments in opening wedge high tibial osteotomy has advantages such as shorter operative time,fewer fluoroscopic exposures,and higher correction accuracy.However,previous studies have reported issues such as significant damage to surrounding soft tissues and improper fixation of the plates. OBJECTIVE:To investigate the clinical efficacy of using 3D-printed patient-specific instruments combined with customized locking plate in opening wedge high tibial osteotomy for the treatment of knee osteoarthritis. METHODS:A total of 20 patients diagnosed with knee osteoarthritis were divided into the 3D group(n=10)and the conventional group(n=10)according to surgical methods.The 3D group underwent opening wedge high tibial osteotomy using 3D-printed patient-specific instruments combined with customized locking plate,while the conventional group underwent opening wedge high tibial osteotomy using conventional methods.The operative time,fluoroscopic exposures,incision length,pre-and postoperative hip-knee-ankle angle,medial proximal tibial angle,posterior tibial slope,the difference between the planned and actual correction angle,preoperative and 1,3,6 months postoperative knee range of motion and Lysholm score,and incidence of complications were analyzed and compared between the two groups. RESULTS AND CONCLUSION:(1)The operative time and fluoroscopic exposures were significantly shorter in the 3D group compared to the conventional group,with a statistically significant difference(P<0.001).(2)Both groups showed a significant improvement in postoperative hip-knee-ankle angle and medial proximal tibial angle compared to preoperative values,with a statistically significant difference(P<0.001),while there was no significant change in posterior tibial slope.In the 3D group,the postoperative hip-knee-ankle angle,medial proximal tibial angle,and posterior tibial slope differed from their respective preoperative planned values by(-0.22±0.72)°,(-0.20±0.73)°,and(0.23±0.37)°,but the differences were not statistically significant.The difference between the planned and actual correction angle of 3D group was significantly smaller than that of conventional group(P<0.05).(3)Both groups showed a gradual increase in knee range of motion and Lysholm scores after surgery(P<0.001).Compared to the conventional group,the 3D group had superior knee range of motion at 1 and 3 months postoperatively,as well as a higher Lysholm score at 1 month postoperatively,with statistically significant differences(P<0.05).There were no statistically significant differences in Lysholm score at 3 months and knee range of motion and Lysholm score at 6 months between the two groups(P>0.05).(4)Complications occurred in neither groups.(5)The above results indicate that both 3D-printed patient-specific instruments combined with customized locking plate and conventional methods have good clinical efficacy.However,the former has a shorter operative time,fewer fluoroscopic exposures,and faster postoperative recovery of knee joint function.Additionally,3D-printed patient-specific instruments can achieve preoperative planning accurately.

There is no unified international guidelines or consensus on seizures and epilepsy following acute stroke reperfusion therapy so far.In this review,we briefly summarize its definitions and mechanisms.Post stroke epilepsy after reperfusion treatment is defined as patients with ischemic stroke who have received intravenous thrombolysis and/or endovascular therapy,without other definitive causes or epilepsy history before stroke,have at least two epileptic seizures occurred within 7 days of stroke onset,or at least one epileptic seizures occurred within 30 days of stroke onset.The incidence rate of epilepsy after intravenous thrombolysis is about 6.4%-20.6%,and arterial thrombectomy is about 5%.The pathophysiological mechanism of post stroke epilepsy after reperfusion treatment may be related to local hyperfusion,epileptogenic properties of tPA and hemorrhagic transformation.Higher stroke severity,cortical involvement,middle cerebral artery infarction,and early post-stroke seizures may be predictive factors for post-stroke epilepsy after reperfusion therapy.Levetiracetam and lamotrigine may be effective drugs for post-stroke epilepsy after reperfusion therapy.Sustained seizures after thrombolysis may increase the risk of death.