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Fragile X syndrome(FXS)is caused by abnormal duplication and amplification of the FMR1 gene CGG.This article reports a pair of brothers diagnosed with FXS by genetic testing.Two patients,aged 15 and 14 years old respectively,both had clinical manifestations such as language disorders,intellectual disabilities,attention deficit disorder,autism spectrum disorder,and FXS's characteristic facial features.The proband had a rare late-onset epileptic seizure,which was well treated with levetiracetam,while his younger brother had no electroencephalogram abnormalities after repeated follow-up.This pair of cases suggests that the clinical phenotype of FXS has diversity and heterogeneity.
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ObjectiveTo explore the effect of multi-sensory artificial intelligence feedback gait training on the recovery of walking function in stroke patients based on enriched environment theory. MethodsFrom July, 2021 to June, 2023, a total of 80 stroke patients in Huashan Hospital Affiliated to Fudan University were randomly divided into control group (n = 40) and experimental group (n = 40). Both groups received routine rehabilitation in the lying and seated positions, for 40 minutes. The control group received ground walking training, for 20 minutes, while the experimental group received multi-sensory feedback gait training in enriched environment, for 20 minutes. Before and after four weeks intervention, the digital motion monitoring treadmill was used to mearsure step speed, step length, hip and knee swing angle and weight symmetry. They were assessed with Berg Balance scale (BBS), Fugl-Meyer Assessment-Lower Extremities (FMA-LE) and Barthel Index (BI). ResultsAfter intervention, the hip swing angle, step length of both sides and step speed significantly improved in both groups (|t| > 3.162, P < 0.05), and they were better in the experimental group than in the control group (|t| > 2.568, P < 0.05); the average knee joint swing angle and bilateral weight-bearing symmetry significantly improved in the experimental group (|t| > 3.249, P < 0.01); the scores of BBS, FMA-LE and BI improved in both groups (|t| > 3.569, P < 0.01), and they were better in the experimental group than in the control group (|t| > 2.922, P < 0.05). ConclusionMulti-sensory feedback gait training based on enriched environment theory could effectively improve the walking and balance of stroke patients, and increase the ability of independence.
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Objective:To explore the effectiveness of evaluating voice disorders in dysarthria patients after brain injury using speech production measurements and analyze their phonics characteristics.Methods:Twenty-nine patients were divided into a severe dysarthria group ( n=19) and a mild dysarthria group ( n=10) through the subjective evaluation of their speech, and then evaluated using a computer speech monitor. The maximum phonation time (MPT), maximum counting ability (MCA), basic frequency (F0), standard deviation of F0 (F0SD), F0 range, intensity, formant, and the distance of jaw and tongue movements were recorded. Results:All of the patients displayed abnormal MPTs and MCAs, with the average MPT and MCA of the severe dysarthria group significantly lower than the mild group′s averages. In the severe dysarthria group, the abnormal F0s, F0SDs, F2(i)s and tongue movement distances were significantly greater than in the mild group.Conclusions:Speech production measurements can be applied to evaluate the speech dysarthria patients after brain injury. It is very common for such patients to have impaired speech and respiratory function, so this is worthy of attention.
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Objectives@#This study explored the relationship between weight control and atrial fibrillation (AF) recurrence after catheter ablation in overweight and obese patients.@*Methods@#We prospectively enrolled consecutive 333 overweight and obese patients aged 28 to 87 years old, who underwent catheter ablation for AF in Beijing Anzhen Hospital between October 2015 and February 2016. Data of patients′ characteristics, laboratory examination and treatment were collected at baseline. Each patient was followed up at 3, 6 and 12 months after ablation to collect information on weight, AF recurrence, stroke, major bleeding, hospitalization for cardiovascular reasons and death, etc. Patients were divided into weight controlled group (ΔBMI<-1 kg/m2) and weight uncontrolled group (ΔBMI≥-1 kg/m2), according to the changes in the most recent exposure BMI before AF recurrence in patients with recurrence or the BMI at 12 months′ follow-up in patients without recurrence and the BMI at baseline. Multivariate logistic regression was performed to adjust other known risk factors of AF recurrence and to explore the association between weight control and AF recurrence after catheter ablation.@*Results@#There were 54 patients in weight controlled group and 279 patients in weight uncontrolled group. There were no significant differences in age, gender, education level, left atrial size and history of hypertension between the two groups (all P>0.05). The proportion of patients using angiotensin-converting enzyme inhibitors/angiotensin receptor blockers was higher in the weight controlled group (50.0%(27/54) vs. 34.8%(97/279), P=0.034). However, there was no significant difference in the proportion of patients with obesity (33.3% (18/54) vs. 29.7% (83/279)), paroxysmal AF (59.3% (32/54) vs. 56.6% (158/279)) and AF duration less than 5 years (76.9% (40/52) vs. 65.4% (178/272)) between the weight controlled group and the uncontrolled group. During 1-year follow-up after ablation, the recurrence rate of AF was significantly lower in the weight controlled group than that in the weight uncontrolled group (14.8% (8/54) vs. 32.6%(91/279), P=0.009). Multivariable logistic regression analysis shows that weight control is independently associated with a lower postoperative AF recurrence rate (OR=0.40, 95%CI 0.18-0.90, P=0.026).@*Conclusion@#Weight control is strongly associated with a lower AF recurrence rate after catheter ablation in overweight and obese patients.
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Objective To observe the effects of different anesthetic solutions on postoperative cognitive function and serum S100β protein levels.Methods A prospective randomized controlled trial was conducted. Ninety patients necessary to perform off-pump coronary artery bypass grafting (op-CABG) in Tianjin Chest Hospital from November 2013 to July 2014 were enrolled. They were divided into three groups by random number table: P1, P2 and P3 groups, 30 cases in each group. The anesthesia was maintained with propofol by target-controlled infusion (TCI) in all the patients in the three groups, and the respective dosages were 3.0 - 4.0μg/mL. The operation time, anesthesia time, dosages of propofol and the incidence of postoperative cognitive dysfunction (POCD) were compared among the three groups. At the following times: before induction of anesthesia (T0), completion of anesthesia induction (T1), after tracheal intubation (T2), skin incision (T3), 1 hour after operation (T4), 2 hours after operation (T5) and the end of operation (T6), the narcotrend index (NTI) and hemodynamic levels were observed; the serum S100β protein levels were measured at the following times: before induction of anesthesia (Ta), 2 hours after operation (Tb), the end of operation (Tc), postoperative 6 hours (Td) and postoperative 24 hours (Te).Results There were no significant differences in operation times and anesthesia times among three groups (allP > 0.05); dosages of propofol in P2 and P3 groups were obviously higher than those of P1 group (mg: 1 746.3±43.9, 2 332.7±42.8 vs. 968.5±35.6, bothP < 0.05), and the incidences of POCD in P2 and P3 groups were lower than that in P1 group (10.00%, 6.67% vs. 33.33%, bothP < 0.05). With the extension of anesthesia time, the level of NTI was gradually declined in each group, in P3 group, it was occasionally increased at T6, and beginning from time point T1 afterwards, the NTI levels were lower than those of P1 and P2 groups at all the time points (allP < 0.05); the mean arterial pressure (MAP) in the three groups had a tendency of firstly going down and then increasing, and the inflection point being at T2, in P1 group, the elevation of MAP level persisted to T4, and it began to decline at T5, while in P2 and P3 groups, the levels started to decline at T4; the heart rate (HR) in three groups showed a tendency of firstly going up and then declining, and the inflection point being at T3; until T6, in P3 group, MAP and HR were all lower than those of P1 and P2 groups, the differences being statistically significant [MAP (mmHg, 1 mmHg = 0.133 kPa): 74.9±8.3 vs. 85.3±11.2, 84.2±10.1;HR (bpm): 74.1±4.2 vs. 80.9±8.1, 78.7±7.9, allP < 0.05]. The serum S100β protein levels of three groups at Tb began to be obviously higher than those at Ta, and reached the peak points at Tc, then the levels started to decline until Td, and the levels at Te was approximately close to those of Ta, but the serum S100β protein levels in P2 and P3 groups were lower than that in P1 group, the differences being statistically significant (mg/L: 1.05±0.22, 1.04±0.21 vs. 1.33±0.22, bothP < 0.05).Conclusion Application of propofol by TCI 2.0 - 3.0μg/mL for maintenance of anesthesia can achieve the satisfactory depth of anesthesia, and it not only can reduce the effects on hemodynamics, but also can decrease the serum S100β protein level and the incidence of POCD.
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A method was developed for the determination of tetrodotoxin in marine organisms by high perfor-mance liquid chromatography-mass spectrometry with immunoaffinity column. The samples were extracted with 1% acetic acid methanol solution and diluted with phosphate buffer at pH 7-8. After cleaned up by immuno-affinity column, the samples were analyzed by LC-MS/MS and quantitatively determined by external standard method. The chromatographic separation was performed on an ACQUITY UPLC BEH Amide column with gradient elution by using acetonitrile and 5 mol/L ammonium acetate solution containing 0. 1% formic acid as mobile phase. Detection was carried out by electrospray positive ionization mass spectrometry in the multiple reaction monitoring mode. Linear ranges of TTX was in the range of 0. 3 -20. 0 μg/L with correlation coeffi-cient more than 0. 997. The quantification limit of the method was 0. 3 μg/kg. The recoveries of standard addition for tetrodotoxin were 88. 7%-102. 3%, and the relative standard deviation was 2. 0%-6. 4%. The method could be used to identify and quantify tetrodotoxin in marine organisms with satisfactory reproducibility and sensitivity.
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Mussel adhesive proteins have attracted increasing interests for their potential use as environmentally friendly bioadhesives in medicine and aqueous conditions. In this study, surface coating analysis, quartz crystal microbalance (QCM), cell and bone tissue adhesion and cytotoxicity assay were used to study the properties of the Perna viridis foot proteins (Pvfp) extract as bioadhesive. The results of coating ability on various materials and QCM analysis revealed that Pvfp extract has comparable or superior adsorbtion ability to that of Cell-Tak (the naturally extracted MAP mixture from Mytilus edulis, and has been commercialized), and also, the cell adhesion ability of Pvfp extract was stronger than that of Cell-Tak and poly-L-lysine. No cytotoxicity was detected using human HeLa and 293T cells. Furthermore, broken bones of mouse could be stuck together by use of Pvfp extract. In bulk-scale adhesion tests, Pvfp extract showed much greater tensile strength than did fibrin glue for conglutinating poly (vinl chloride) sticks and for binding together pig's femur segments. These results suggested that Pvfp extract be an efficient cell and tissue adhesive in biotechnological application and it might be a potential bioadhesive in medical practice.
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Animals , Humans , Mice , Bone Cements , Bone and Bones , HeLa Cells , Perna , Chemistry , Proteins , Pharmacology , Swine , Tissue AdhesivesABSTRACT
Objective To assess the usefulness of the MSCTA with 3D reconstruction to epigastric tumors in interventional treatment.Methods MSCTA were performed in 27 cases of epigastric tumors before and after interventional treatment.3D reconstruction were taken for blood vessels with technique of MIP(maximum intensity projection)and VRT(volume rendering technique).Results 42 times MSCTA and 3D reconstruction were performed in 27 cases of epigastric tumors.We discovered 5 feeding arteries with mutation in abdominal cavity,7 collateral branches formed after embolization and 2 abnormal courser of celiac artery.The display of vasculative with MSCTA was better than that of DSA.Conclusion 3D-MSCTA for epigastric tumors not only can show directly and clearly the stereo-anotomic images of the tumor feeding vessels but also provide guidance for planning the treatment.