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Objective:To investigate the clinical phenotypes, therapy and genetic features of aldehyde dehydrogenase 7 family member A1 (ALDH7A1) gene mutations in five cases of pyridoxine dependent epilepsy (PDE) with diagnosis confirmed by next generation sequencing.Methods:Retrospective analysis was carried out on clinical data of five cases of PDE children with early epilepsy onset who were treated in the Department of Neurology of Children′s Hospital Affiliated to Zhengzhou University from February 2018 to November 2019. Next generation sequencing approach was used for genetic sequencing of proband ALDH7A1 gene and the first generation Sanger was used for validation of family members. And the characteristics of gene mutations were analyzed.Results:Among the five children diagnosed with PDE, the male to female ratio was 4 ∶ 1 and ages at clinic visit ranged from two months to 10 months old. In clinical phenotypes, all five cases experienced onset in neonatal period, with repeated seizures, manifested as myoclonus, spasms or focal paroxysm. The administration of antiepileptic drugs performed poorly in seizure control while long term oral intake of large dose pyridoxine showed better efficacy. All the five cases of children came from compound heterozygous mutations of father and mother, i.e. slicing homozygous mutation c.247-2(IVS2)A>T, missense mutation c.584A>G (p.N195S) and nonsense mutation c.1003C>T(p.R335 *), missense mutation c.1553G>C(p.R518T) and c.1547A>G(p.Y516C), missense mutation c.1547A>G(p.Y516C) and frameshift mutation c.1566_1568delTAC, missense mutation c.1061A>G(p.Y354C) and nonsense mutation c.841C>T(p.Q281X, 259), among which c.247-2(IVS2)A>T was novel splicing site mutation not reported before. Conclusions:PDE is induced by ALDH7A gene mutation. Early clinical manifestations are mostly onset of refractory epilepsy in neonatal period. Antiepileptic drugs perform poorly in terms of efficacy while pyridoxine can control seizure effectively. Gene analysis should be conducted on such patients for confirmed diagnosis.
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BACKGROUND: The study on the mechanism of force conduction of Ilizarov bone external fixator is of great significance for clinical orthodontics of the knee varus, the knee valgus and the tibial fracture. OBJECTIVE: To explore the force conduction mechanism of Ilizarov bone external fixator and the force changes of each orthopedic force in the process of tibia correction, and to objectively evaluate the overall use effect of the external fixator. METHODS: According to the structure of the external fixator, the coordinate transformation matrix relations were established, and the mathematical transformation relationship between the holding force and the pulling tension was obtained. A special laboratory bench was set. The experiment of tibia correction was conducted. The load on the external fixator and the variation of the orthotic force were measured. The theoretical value of the tension at the broken bone is calculated and compared with the actual value of the tension measured by the six-dimensional force sensor. The curve of efficiency of force transmission during correction was obtained. RESULTS AND CONCLUSION: (1) During the correction, the structure of the Ilizarov bone external fixator resulted in the interaction and restriction of its adjustment rod and support rod. When one adjustment force increased, the other adjustment force would decrease. (2) The efficiency of force transmission was increased greatly in the early stage, and then stabilized at about 50%. The experimental results could evaluate the overall correction effect of the external fixator. (3) Theoretical calculation and experiment of the tension at the broken bone due to the loss during the force transmission process were different in the result curves, but from the experimental results, it could be indicated that the overall force change trend of the adjustment force, supporting force, the theoretical value of the tension and the actual value of the tension was basically the same, indicating the validity of the theoretical calculations and experimental results. The evaluation results can provide a reference for the optimal design of Ilizarov’s external fixation architecture and the precise control of tibial orthopedic surgery.
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Objective To assess the value of passive leg raising (PLR) combined with echocardiography in predicting volume responsiveness in patients with septic shock. Methods Thirty septic shock patients with spontaneous respiration admitted to intensive care unit (ICU) of Tianjin First Center Hospital from July 2016 to August 2018 were enrolled. PLR and volume expansion (VE) were performed successively. The hemodynamic parameters including left ventricular end-diastolic volume (LVEDV), left ventricular end-systolic volume (LVESV), stroke volume (SV) and left ventricular ejection fraction (LVEF) before PLR (baseline level), after PLR, immediately after VE were examined by echocardiography, and the central venous pressure (CVP) was monitored. The patients with increase in SV after VE (ΔSV) ≥ 15% were served as reaction group, while ΔSV < 15% were served as non-reaction group. The changes in LVEDV, LVESV, SV, LVEF and CVP at baseline level, after PLR and after VE were compared between the two groups. Pearson correlation method was used to analyze the correlation between ΔSV, increase in LVEF (ΔLVEF) after PLR and ΔSV, and ΔLVEF after VE. Receiver operating characteristic (ROC) curve was plotted to evaluate the predictive value of ΔSV and ΔLVEF after PLR for volume responsiveness. Results PLR and VE were successfully performed in 30 patients, of which 23 patients (76.7%) were enrolled in the reaction group, and 7 patients (23.3%) in the non-reaction group. Compared with baseline levels, LVEDV, SV, and LVEF in the reaction group were significantly increased after PLR [LVEDV (mL): 83.5±9.6 vs. 77.1±6.2, SV (mL): 48.5±5.6 vs. 43.2±4.9, LVEF: 0.58±0.04 vs. 0.56±0.06, all P < 0.05], and CVP was significantly increased after VE [cmH2O (1 cmH2O = 0.098 kPa): 7.4±3.3 vs. 4.6±0.7, P < 0.01], however, there was no significant change in LVESV. In the non-reaction group, SV and LVEF were significantly increased after PLR as compared with those at baseline levels [SV (mL): 42.7±3.7 vs. 40.6±3.1, LVEF: 0.52±0.05 vs. 0.50±0.05, both P < 0.05], while LVEDV and CVP were significantly increased after VE as compared with those at baseline levels [LVEDV (mL): 84.4±4.1 vs. 80.6±5.9, CVP (cmH2O): 10.6±3.5 vs. 7.6±0.5, both P < 0.05], however, there was no significant change in LVESV. Pearson correlation analysis showed that ΔSV and ΔLVEF after PLR were positively correlated with ΔSV and ΔLVEF after VE (r1 = 0.86, r2 = 0.65, both P < 0.01). ROC curve analysis showed that the area under ROC curve (AUC) of PLR-induced ΔSV and ΔLVEF for predicting volume responsiveness was 0.85 and 0.66 respectively. When the cut-off value of ΔSV after PLR was 10.6%, the sensitivity was 78.2%, the specificity was 82.3%; when the cut-off value of ΔLVEF after PLR was 3.6%, the sensitivity was 78.2%, and the specificity was 73.2%. Conclusion ΔSV and ΔLVEF measured by PLR combined with echocardiography can be used to evaluate the volume responsiveness in patients with septic shock and can guide fluid therapy.
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Objective To discuss the liver function recovery affected by the portal vein flow in patients who underwent adult-to-adult living donor liver transplantation using the right lobe. Methods Seventy-four donors and recipients were included in this study. Intraoperative Doppler ultrasound (IOUS)were performed before splitting the donor liver and 1 hour after the graft reperfusion. The diameter and velocity of portal vein were measured and recorded for calculation of portal vein flow(PVF). Liver function tests were undertaken at the day 2nd,7th, 15th and 30th postoperative,respectively. Results One hour after reperfusion of 74 grafts,the PVF were significantly increased (2. 84 ± 0. 93) fold. Seventy-four grafts were divided into 4 groups according to the different degrees of the increase of PVF. The levels of blood bilirubin total(TBIL) among 4 groups were differently at the day 2nd,7th, 15th and 30th postoperative. High PVF contributed to recipient's prolonged hyperbilirubinemia ( P ＜0. 001 ). The levels of ALT, AST among 4 groups were differently at the day 7th, 15th and 30th postoperative( P ＜0. 001). Conclusions Detection of portal vein hemodynamics in living donor liver transplantation by IOUS may assist surgeon to anticipate the graft's function and take surgical therapies to secure the graft and the recipient.
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Objective To study the clinical effects of tearing pediatric diarrhea with traditional Chinese and western medicine.Methods Altogether 520 patients with pediatric diarrhoea were recruited into three groups:the group treated with combined traditional Chinese and western medicine,the group treated with Chinese medicine and the group treated with western medicine.Observe clinical effects of each group.Results In 175 cases of the group treated with combined traditional Chinese and western medicine,66 cases show significant effects,64 cases are effective,45 eases are ineffective,and the effective rate is 74.30%;In 171 cases of the group of treated with traditional Chinese medicine,32 eases show significant effects,42 eases are effective,97 cases are ineffective,and the effective rate is 43.30%;In 174 eases of the group of treated with western medicine,35 eases show significant effects,43 eases are effective,96 eases are ineffective,and the effective rate is 44.80%.The effective rate of the group treated with combined Chinese medicine and western medicine was significantly better than the other two groups (P＜0.01).Conclusion Combined Chinese and western medicine is more effective in treating the patients with pediatric diarrhea,and it is worthy of spread.