This article reported a typical case of paroxysmal kinesigenic dyskinesia(PKD).The patient was a 26-year-old female with a medical history of 10 years.The patient manifested as paroxysmal choreoathetosis of the limb and head triggered by sudden movement in a quiet state,without sensory aura.The symptoms resolved spontaneously after tens of seconds.She was conscious during and between attacks,had a clear family history and a normal neurological examination.No abnormalities were found in brain magnetic resonance image and electroencephalogram.Genetic test showed a frame-shift mutation of c.776del in PRRT2 gene of the proband and her father with similar phenotype.The patient was diagnosed with PKD according to the diagnostic criteria for PKD.The symptoms were significantly relieved after one month of oxcarbazepine treatment with good prognosis.PKD is a rare movement disorder.The patient has typical symptoms,and the mutation site has not been reported in the Human Gene Mutation Database.Therefore,this article enriched the pathogenic gene mutation spectrum of PKD,provided a basis for genetic counseling of PKD and increased the awareness of this rare disease among physicians.

Objective:To analyze the effect of enzyme replacement therapy (ERT) in 18 patients of Pompe disease.Methods:Clinical data, laboratory tests, acid alpha-glucosidase (GAA) enzyme activity, GAA gene, outcome and follow-up of ERT in 18 cases of infantile and late-onset Pompe disease admitted to the First Affiliated Hospital of Sun Yat-sen University from October 2020 to May 2023 were retrospectively collected and analyzed. Results:Among the 18 patients with Pompe disease, 9 are males, and 9 are females; 4 had infantile onset, 5 had late-onset in children, and 9 had late-onset in adults; age of onset ranged from 4 months to 43 years; ERT was received from 1 to 61 times, with only 1 adverse reaction during infusion. Among the 4 infantile onset patients after standardized ERT, 2 had stable motor and respiratory function, 1 had difficulty removing from vetilator, and 1 died. Most of the muscle strength of extremities of late-onset patients were difficult to reverse, and creatine kinase gradually decreased or remained stable, while subjective symptoms, exercise endurance, and respiratory function were significantly improved. ERT was most effective in the early stages and the disease remained stable for 1 to 2 years after treatment.Conclusions:ERT is safe and effective, which can help delay disease progression and improve the quality of life of patients. Early standard treatment is beneficial for both infantile- and late-onset patients.

ObjectiveTo confirm the clinical efficacy and safety of Yishen Yangxin Anshen tablets in the treatment of insomnia （heart-blood deficiency and kidney-essence insufficiency syndrome）. MethodA randomized block， double-blind， placebo-controlled， multi-center clinical trial design method was adopted， and a total of 480 patients with insomnia due to deficiency of heart blood and insufficiency of kidney essence （treatment group-control group 3∶1） from seven hospitals （Guang'anmen Hospital， China Academy of Chinese Medical Sciences， The First Clinical Hospital， Jilin Province Academy of Traditional Chinese Medicine（TCM）， The Second Affiliated Hospital of Liaoning University of TCM， The First Affiliated Hospital of Henan University of Chinese Medicine， Henan Province Hospital of TCM， Hebei General Hospital， The First Hospital of Hunan University of Chinese Medicine） were enrolled. The treatment group was given Yishen Yangxin Anshen tablets and the control group received placebo tablets （4 tablets/time， 3 times/day， 4 weeks of administration， 4 weeks of follow-up after drug withdrawal）. The sleep dysfunction rating scale （SDRS） score， pittsburgh sleep quality index （PSQI） score， TCM， polysomnography （PSG） indicators from four hospital （Guang'anmen Hospital， China Academy of Chinese Medical Sciences， Henan Province Hospital of TCM， Hebei General Hospital， The First Hospital of Hunan University of Chinese Medicine）， and other efficacy indicators were compared between the two groups before and after treatment. Through general physical examination， laboratory examination， and observation of adverse events， the safety of the drugs was evaluated. ResultThe baseline indexes of the two groups showed no significant difference and thus the two groups were comparable. After treatment， the total score of SDRS in the treatment group was lower than that in the control group （P<0.01）. After drug withdrawal for 4 weeks， the total score of SDRS demonstrated no significant change in the treatment group as compared with that at the end of treatment， indicating that the rebound change of curative effect was not obvious. After treatment， the total score of PSQI in the treatment group decreased as compared with that in the control group （P<0.01）， and the change of total score of PSQI in the treatment group was statistically significant （P<0.05） after drug withdrawal for 4 weeks but small， indicating that the rebound change of curative effect was not obvious. After treatment， the total effective rate about the TCM symptoms in the treatment group was higher than that in the control group （χ²=137.521，P<0.01）. After treatment， the disappearance rates of single indexes in the treatment group， such as difficulty in falling asleep， easily waking up after sleeping， early awakening， short sleep time， dreamfulness， palpitation， forgetfulness， dizziness， mental fatigue， and weakness of waist and knee， increased compared with those in the control group （P<0.01）. After treatment， the treatment group demonstrated fewer awaking times （AT）， longer total sleep time （TST）， lower ATA/TST ratio， and higher sleep efficiency （%） than the control group （P<0.05）. No abnormal value or aggravation related to drugs was observed in either group. The incidence of adverse events in the treatment group and the control group was 5.57% and 8.40% respectively. No serious adverse events or adverse events leading to withdrawal happened in either group. ConclusionYishen Yangxin Anshen tablets is effective and safe for patients with insomnia of deficiency of heart-blood and insufficiency of kidney-essence.

Objective:To prepare a peptide fluorescent probe based on aggregation-induced emission and to investigate its application in the detection of early caries.Methods:Eight aspartate-serine-serine (DSS) were combined with aggregation-induced emission material to prepare peptide fluorescent probes, and an artificial demineralization model was established in vitro. The samples were immersed in the peptide fluorescent probe solution for 1 min, and a fluorescence imaging system was applied to examine the tooth samples and collect images and fluorescence data. Scanning electron microscopy was also applied to observe the phenotype of the teeth, and electron microscopy was applied to detect the calcium-phosphorus ratio on the enamel surface of the teeth. Polarized light microscopy was also applied to observe the enamel area of the teeth. Results:The fluorescence intensity of demineralized teeth was clearly observed to be lower than that of normal teeth in the peptide fluorescent probe-treated area, and the difference was statistically significant ( P < 0.05). The results of scanning electron microscopy showed that the enamel surface of the demineralized group had more irregular pores, while the enamel surface of the undemineralized group was flatter with only some irregular accumulation of flakes. The results of polarized light microscopy showed that a clear birefringence could be observed in the enamel region of normal teeth, while a black area or the disappearance of the birefringence effect accompanied by a partial black dark shadow could be observed in the enamel region of demineralized teeth. Conclusions:An aggregation-induced luminescence-based peptide fluorescent probe was successfully prepared, which can precisely localize the enamel and show some application value in early caries detection.

Objective:To explore the role of arthroscopic exploration in the treatment of tibial plateau fractures with homeopathic double reverse traction reduction and internal fixation.Methods:A retrospective analysis was conducted on the data of 188 patients with tibial plateau fractures treated by homeopathic double reverse traction reduction assisted internal fixation and arthroscopic exploration at the Third Hospital of Hebei Medical University from January 2019 to December 2021. There were 129 males and 59 females, aged 46.7±11.8 years (range, 14-80 years); 115 cases on the left and 73 cases on the right. Schatzker classification of fractures: 81 cases of type II, 15 cases of type III, 23 cases of type IV, 29 cases of type V, and 40 cases of type VI. The time from injury to surgery was 1-14 days, with an average of 10±5 days. The surgery was performed with double reverse traction assisted reduction, locking bone plate and self-breaking compression bolt fixation. Then, arthroscopy was used to explore the quality of fracture reduction, meniscus and ligament damage, and the corresponding intra-articular lesions were treated, such as partial meniscus resection, complete meniscus resection, or suturing. The Rasmussen score was used to evaluate the quality of fracture reduction after surgery, and the Hospital for Special Surgery (HSS) knee joint score was used to evaluate the postoperative function of the knee joint.Results:All patients successfully completed fracture reduction, fixation, and arthroscopic exploration. The average surgical time was 95±21 min (range, 30-120 min); The average intraoperative bleeding volume was 120±58 ml (range, 50-300 ml). All patients were followed up for 10-24 months, with an average of 18±6.5 months. All patients' fractures achieved clinical healing after surgery, with a healing time of 2.5-6.0 months, with an average of 3±2.4 months. Among them, 165 patients (87.8%, 165/188) healed within 3 months after surgery, while the remaining 23 patients healed within 4-6 months after surgery. Arthroscopic exploration revealed that 188 patients had good fracture reduction and a flat articular surface. Among them, 97 cases (51.6%, 97/188) were complicated with meniscus injury, with longitudinal tear (29%, 28/97) being the most common, suture treatment was performed under arthroscopy; the remaining 69 patients underwent partial meniscectomy. All the patient's knee function recovered well at the last follow-up. 29 cases (15.4%, 29/188) were complicated with cruciate ligament injury, none of them underwent primary repair and were fixed with plaster or brace after operation. The Rasmussen score for the final follow-up after surgery was 16.8±2.4 points (range, 6-18 points), with 152 cases being excellent and 36 cases being good, with a 100% excellent and good rate. The HSS knee joint scores were 79.8±9.2 points, 85.1±10.1 points, and 94.9±7.6 points at 3, 6 months after surgery, and at the last follow-up, respectively, with statistically significant differences ( F=52.53, P<0.001). Superficial skin infection occurred in 2 cases after operation, which was cured by regular dressing change and anti-infection treatment with antibiotics. Deep vein thrombosis occurred in 7 cases within 1 week after operation, and low molecular weight heparin anticoagulation therapy was given. Conclusion:After using double reverse traction assisted reduction and internal fixation, arthroscopic examination can not only evaluate the quality of reduction for tibial plateau fractures, but also handle combined meniscus injuries and evaluate the condition of cruciate ligament injuries.

Orthodontic tooth movement is achieved by remodeling periodontal ligament, alveolar bone and other periodontal tissues in response to mechanical loading. The periodontal ligament is the fibrous connective tissue connecting cementum and alveolar bone, which plays an important role in the transmission, absorption and dispersion of supporting teeth and biting force. When orthodontic forces are applied to the teeth, load transfer occurs from the tooth through the periodontal ligament to the alveolar bone. The remodeling of periodontal ligament interacts with the alveolar bone formation and absorption alternately. As the initial factor of orthodontic tooth movement, the stress/strain of periodontal ligament is involved in the process of alveolar bone remodeling and affects the direction and speed of tooth movement. Therefore, the biomechanical properties of the periodontal ligament have received extensive attention. In this paper, the related researches on the structural changes and biomechanical characteristics of the periodontal ligament during orthodontic tooth movement were reviewed as well as the researches on the mechanical constitutive model of the periodontal ligament. The mechanical response and biomechanical mechanism of the periodontal ligament were discussed in order to provide a theoretical basis for accurate numerical simulation of orthodontic tooth movement.

Objective:To evaluate the clinical efficacy of minimally invasive treatment of Fraser type Ⅱ floating knee by homeopathic reduction.Methods:From November 2016 to July 2018, 7 patients with Fraser type Ⅱ floating knee were treated by homeopathic reduction and minimally invasive surgery at Trauma Emergency Center, The Third Hospital of Hebei Medical University. They were 5 males and 2 females, aged from 30 to 82 years (average, 52 years). They all suffered from tibial plateau fracture complicated with floating knee, with 5 cases of Fraser type ⅡA (tibial plateau fracture complicated with femoral shaft fracture) and 2 cases of Fraser type ⅡC (tibial plateau fracture complicated with femoral condyle fracture). The femoral and tibial plateau fractures were reduced with a bidirectional traction reduction device, followed by minimally invasive implantation of internal fixators. The operation time, length of a single incision, blood loss and fluoroscopic frequency were recorded. The anteroposterior and lateral X-ray films of the lower limb were taken and fracture healing time was recorded during follow-up. The function of knee joint was evaluated by Hospital for Special Surgery (HSS) scoring system at the last follow-up.Results:For the 7 patients, operation time averaged 87.2 min, length of a single incision 2.8 cm, blood loss 471 mL, and fluoroscopy frequency 37 times. The postoperative X-ray films showed fine alignment and force line and smooth articular surface in all patients. All the incisions healed by grade A. The follow-up time for 7 patients ranged from 12 to 21 months (average, 15.6 months). All the fractures healed after an average time of 12.8 weeks. The HSS scores at the last follow-up showed that 6 cases were excellent and one was good.Conclusion:The fractures of the femur side and of the tibia side can be treated separately by closed reduction and internal fixation using a homeopathic bidirectional traction reduction device so as to obtain better knee joint function.

Motor neuron disease (MND) is a type of chronic progressive neurodegenerative disease involving upper and/or lower motor neurons, including amyotrophic lateral sclerosis, progressive bulbar palsy, primary lateral sclerosis, progressive muscular atrophy, and spinal muscular atrophy. Different types of motor neuron diseases have distinct characteristics. Therefore, the diagnosis mainly depends on clinical manifestations, physical examination and electrophysiological examination, and is made by exclusion of other diseases. Atypical cases are sometimes difficult for clinical physicians to distinguish from other diseases involving upper and/or lower motor neurons. This article is going to introduce various types of MND and their differential diagnosis according to site of lesion of motor neuron disease.

Motor neuron disease (MND) is a type of chronic progressive neurodegenerative disease involving upper and/or lower motor neurons, including amyotrophic lateral sclerosis, progressive bulbar palsy, primary lateral sclerosis, progressive muscular atrophy, and spinal muscular atrophy. Different types of motor neuron diseases have distinct characteristics. Therefore, the diagnosis mainly depends on clinical manifestations, physical examination and electrophysiological examination, and is made by exclusion of other diseases. Atypical cases are sometimes difficult for clinical physicians to distinguish from other diseases involving upper and/or lower motor neurons. This article is going to introduce various types of MND and their differential diagnosis according to site of lesion of motor neuron disease.

Objective To compare the difference of serum heme oxygenase-1 (HO-1) and carbon monoxide(CO) levels between the patients with coronary heart disease(CHD) caused chronic heart failure(CHF) and CHD patients with normal cardiac function,and further to explore the protective mechanism of HO-1/CO system during the pathogenesis process of CHF.Methods Ninety-one patients with CHF were selected as the observation group and 72 CHD cases with normal cardiac function were taken as the control group.The concentration of HO-1 was determined by ELISA arid the Chalmer S method was used to detect serum CO concentration.The general clinical data of the two groups were recorded by the using the heart failure questionnaire.And the liver and kidney functions,blood lipids,NT-proBNP,BNP and cardiac echocardiography examination were performed.Results The serum HO-1 level in the observation group was (8.13±0.27)ng/mL,which was higher than (2.80±0.52)ng/mL in the control group;the CO level in the observation group was (0.35±0.06)mg/L,which was lower than(0.59±0.07)mg/L in the control group,the difference was statistically significant(P＜0.01);the HO-1 level in the observation group was gradually increased with the increase of cardiac function grade (P＜0.01);while the CO level was decreased with the increase of cardiac function grade (P＜0.01).Conclusion The serum HO-11evel in the patients with CHF is highly expressed with the heart failure aggravation;endogenous CO is gradually decreased due to consumption after cardiac failure aggravation.