Objective:To investigate the clinical features, gene mutation and follow-up outcome of children with paroxysmal kinesigenic dyskinesia(PKD).Methods:Clinical data was collected at Beijing Tiantan Hospital Affiliated to Capital Medical University from November 2018 to November 2019.In total, seven children with PKD were recruited, and peripheral blood samples for gene study were collected from six patients and their parents.Mutation analysis of PRRT2 gene was performed by PCR sequencing in children and by Sanger sequencing in patients.Results:Of the seven patients, four were male and three were female, and the median age of onset was 11 years and 6 months, ranging from 5 to 14 years.Among them, two patients were family cases and the other five patients were sporadic cases.The presentation were abnormal involuntary movements provoked by sudden movements, without loss of consciousness.Five patients exhibited dystonia and two patients had dystonia and choreoathetosis.The duration of the attacks lasted for a few seconds to 40 seconds.The frequency ranged from 5 to 15 times per day.PRRT2 mutations, c.649_650insC(P.R217PfsX8), were found in two patients with PKD families and three sporadic PKD cases.Conclusion:The onset age of PKD is pre-school or school age.The attacks manifest as dystonia or mixed with dystonia and choreoathetosis.PRRT2 is the main pathogenic gene of PKD and mutation c. 649_650insC is the hotspot mutation.Low-dose Carbamazepine has good effects.

BACKGROUND: Uncontrolled-rate freezing in -80 ℃ refrigerator is convenient, while controlled-rate freezing in -196 ℃ liquid nitrogen is reliable and long-term, the combination of the two can simplify the process and has been successfully used in clinics. OBJECTIVE: To explore the influences of different cryoprotectants by ladder-style freezing from -80 ℃ low temperature refrigerator to liquid nitrogen on the cryopreservation of hemopoietic stem cells. METHODS: The experiments were divided into four groups: 10% dimethyl sulfoxide (DMSO) group, 5% DMSO combined with 3% hydroxyethyl starch group, 5% DMSO combined with 0.25 mol/L trehalose group, 5% DMSO combined with 3% hydroxyethyl starch and 0.25 mol/L trehalose group. Peripheral hemopoietic stem cells were cryopreserved by ladder-style freezing from -80 ℃ low temperature refrigerator to liquid nitrogen. The ultrastructural changes were examined by transmission electron microscopy, the expressions of Annexin-V, PI and Caspase-3 were detected by flow cytometry. RESULTS AND CONCLUSION: There was no significant difference in survival rate, apoptotic rate and necrotic rates of the cryopreserved cells in the four groups (P > 0.05). The ultrastructural changes had no significant difference under the transmission electron microscopy. The viability was more than 90% in frozen-thawed mononuclear cell colonies, and the apoptosis was roughly 50% in the frozen-thawed CD45+ cell population, which contained many mature cells. Of hemopoietic stem cells, early stage cells have greater resistance to damage of cryopreservation than late stage cells. It is concluded that the addition of hydroxyethyl starch or trehalose into DMSO exhibits no synergistic protective effect on the cryopreservation of hemopoietic stem cells.

Spastic paraplegia type 4 (SPG4) is the most common type of autosomally inherited spastic paraplegia. Its main clinical features include typical simple hereditary spastic paraplegia, with neurological impairments limited to lower limb spasticity, hypertonic bladder dysfunction, and mild weakening of lower limb vibration sensation, without accompanying features such as nerve atrophy, ataxia, cognitive impairment, seizures, and muscle tone disorders. SPAST is the main pathogenic gene underlying SPG4, and various pathogenic SPAST variants have been discovered. This disease has featured a high degree of clinical heterogeneity, and the same pathogenic variant can have different age of onset and severity among different patients and even within the same family. There is a lack of systematic research on the correlation between the genotype and phenotype of SPG4, and the pathogenic mechanism has remained controversial. This article has provided a review for the clinical characteristics, pathogenic gene characteristics, correlation between the genotype and phenotype, and pathogenic mechanism of this disease, with an aim to provide reference for its clinical diagnosis and treatment.
Humans ; Spastic Paraplegia, Hereditary/genetics* ; Mutation ; Spastin/genetics* ; Paraplegia/genetics* ; Phenotype

Objective To explore the role of TMAO from gut microbiota in non-alcoholic fatty liver disease(NAFLD),we detected the serum level of TMAO and its precursor metabolites in NAFLD,as well as the expression level of Eubacterium rectum,Bacteroidetes multiforme,Lactobacillus and bifidobacterium in the intestinal flora.Methods We collected 118 subjects and divided into NAFLD group(86 cases)and healthy control group(32 cases)randomly.We also detected the serum level of TMAO and its precursor metabolites in subjects by high performance liquid chromatography tandem mass spectrometry detection(LC-MS),and the expression of target bacterial DNA was detected by qRT-PCR.Results Serum TMAO,TMA and choline levels were significantly increased in NAFLD(P<0.05),and liver fat content was positively correlated with TMAO(P<0.05).The expression level of Lactobacillus and Eubacterium rectum in NAFLD group were increased(P<0.05);the expression level of Bifidobacterium and Bacteroides multiform were decreased(P<0.05).The serum TMAO level was positively correlated with Eubacterium rectum(r=0.280,P<0.05),and negatively correlated with Bifidobacterium(r=-0.332,P<0.05).Conclusion The level of TMAO in serum shows a positive correlation with NAFLD.The structure of intestinal flora in individuals with NAFLD is altered and linked to TMAO.This suggests that the intestinal flora may have a significant impact on the development of NAFLD through TMAO.

ObjectiveTo explore the effects of different intensity of wearable lower limb rehabilitation robot-assisted training on walking function, lower limb motor function, balance function and functional independence of stroke patients. MethodsFrom November, 2021 to December, 2022, 60 stroke patients hospitalized in Beijing Bo'ai Hospital were randomly divided into control group (n = 20), observation group 1 (n = 20) and observation group 2 (n = 20). All the groups received routine rehabilitation, while the control group received routine walking training 30 minutes a day, the observation group 1 received wearable lower limb rehabilitation robot-assisted training 30 minutes a day, and the observation group 2 received wearable lower limb rehabilitation robot-assisted training 60 minutes a day, for four weeks. They were assessed with Functional Ambulation Category scale (FAC), Fugl-Meyer Assessment-Lower Extremities (FMA-LE), Berg Balance Scale (BBS) and Rivermead Mobility Index (RMI) before and after treatment. ResultsOne case in the observation group 1 and three cases in the observation group 2 dropped down. The FAC, FMA-LE, BBS and RMI scores improved in all the three groups after treatment (|Z| > 3.448, |t| > 8.102, P < 0.001), and there was no significant difference in all the indexes among the three groups (|H| < 4.643, F = 1.454, P > 0.05); however, the improvement of BBS score was more in the observation group 1 than in the control group (P < 0.05), and the improvement of all the indexes was more in the observation group 2 than in the control group (P < 0.05). ConclusionThe wearable lower limb rehabilitation robot-assisted training may promote the recovery of walking function, lower limb motor function, balance function and functional independence of stroke patients, and high-intensity training seems to be more effective.