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OBJECTIVE@#To explore the clinical and genetic characteristics of a child with MEGDEL syndrome.@*METHODS@#Clinical data of the child was reviewed. Peripheral blood samples of the child and his parents were collected. Mitochondrial genome and the whole exome of the child were analyzed by next-generation sequencing. Candidate variants and its origin were verified by Sanger sequencing and fluorescence quantitative PCR.@*RESULTS@#The patient, a 2-year-and-6-month-old male, has featured hypoglycemia, mental and motor retardation with regression. Cranial MRI showed bilateral putamen damage suggestive of Leigh syndrome. Testing of urine organic acid indicated that the level of 3-methylpentenoic acid was slightly increased. Whole exome sequencing revealed that the child has harbored heterozygous deletion of exons 6 to 17 and c.307A>T nonsense variant of the SERAC1 gene, which were respectively inherited from his parents who were asymptomatic. Treatment with Levocarnitine, vitamin B1, vitamin B2, coenzyme Q10, baclofen and glucuronolactone resulted in improvement of sleep and mental state.@*CONCLUSION@#A case of MEGDEL syndrome without deafness was diagnosed. Discovery of the nonsense mutation and large fragment deletion have enriched the spectrum of SERAC1 gene variants.
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Child, Preschool , Humans , Male , Hearing Loss, Sensorineural/genetics , Leigh Disease , Metabolism, Inborn Errors/genetics , Molecular Biology , MutationABSTRACT
Objective@#To investigate the incidence and risk factors of catheter-related venous thrombosis (PICC-DVT) after peripherally inserted central catheter (PICC) in patients with hematologic malignancies, and to analyze the safety of anti-coagulation therapy with low-molecular-weight heparin.@*Methods@#From August 2016 to June 2018, 43 patients with hematologic malignancies received PICC in Baoan District People's Hospital of Shenzhen City were enrolled. The patients were divided into low-molecular-weight heparin anticoagulation group (22 cases) and blank control group (21 cases) according to the random number table method. The blood routine, coagulation quadruple, D-dimer, protein C activity, protein S activity, and antithrombin Ⅲ activity before and after catheterization were compared between the two groups.@*Results@#Of the 43 patients, 5 cases (11.62%) occurred PICC-DVT within 1 month after PICC, including 2 cases (9.09%) in the low-molecular-weight heparin anticoagulation group, and 3 cases (14.29%) in the blank control group, the difference between the two groups was not statistically significant (P = 0.664). No pulmonary embolism occurred in all patients with PICC-DVT. One case in the blank control group developed PICC-DVT and catheter-associated staphylococcus aureus infection, the patient was extubated after anti-infection and thrombolytic therapy, the other patients with PICC-DVT were not extubated, and the thrombus was dissolved after anticoagulant therapy. There were no significant differences in the white blood cell count, platelet count, prothrombin time, activated partial thromboplastin time, D-dimer, protein C activity, protein S activity, and antithrombin Ⅲ activity between the low-molecular-weight heparin anticoagulation group and blank control group (all P > 0.05). The anticoagulant index (protein C, protein S or antithrombin Ⅲ activity) was decreased in 5 patients with PICC-DVT, and in 38 non-thrombotic patients, the anticoagulant index was reduced in 16 patients (42.11%), the difference was statistically significant (P = 0.021).@*Conclusions@#The incidence of protein C, protein S or antithrombin Ⅲ activity reduction in hematological malignancies patients with PICC-DVT is higher than that in non-thrombotic patients. Low-molecular-weight heparin anticoagulant therapy can not reduce the occurrence of PICC-DVT within 1 month after PICC in patients with hematological malignancies, but the treatment is safe and has no relevant bleeding event.
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Objective To investigate the incidence and risk factors of catheter-related venous thrombosis (PICC-DVT) after peripherally inserted central catheter (PICC) in patients with hematologic malignancies, and to analyze the safety of anti-coagulation therapy with low-molecular-weight heparin. Methods From August 2016 to June 2018, 43 patients with hematologic malignancies received PICC in Baoan District People ' s Hospital of Shenzhen City were enrolled. The patients were divided into low-molecular-weight heparin anticoagulation group (22 cases) and blank control group (21 cases) according to the random number table method. The blood routine, coagulation quadruple, D-dimer, protein C activity, protein S activity, and antithrombin Ⅲactivity before and after catheterization were compared between the two groups. Results Of the 43 patients, 5 cases (11.62％) occurred PICC-DVT within 1 month after PICC, including 2 cases (9.09％) in the low-molecular-weight heparin anticoagulation group, and 3 cases (14.29％) in the blank control group, the difference between the two groups was not statistically significant (P=0.664). No pulmonary embolism occurred in all patients with PICC-DVT. One case in the blank control group developed PICC-DVT and catheter-associated staphylococcus aureus infection, the patient was extubated after anti-infection and thrombolytic therapy, the other patients with PICC-DVT were not extubated, and the thrombus was dissolved after anticoagulant therapy. There were no significant differences in the white blood cell count, platelet count,prothrombin time, activated partial thromboplastin time, D-dimer, protein C activity, protein S activity, and antithrombin Ⅲ activity between the low-molecular-weight heparin anticoagulation group and blank control group (all P> 0.05). The anticoagulant index (protein C, protein S or antithrombin Ⅲ activity) was decreased in 5 patients with PICC-DVT, and in 38 non-thrombotic patients, the anticoagulant index was reduced in 16 patients (42.11％), the difference was statistically significant (P= 0.021). Conclusions The incidence of protein C, protein S or antithrombin Ⅲ activity reduction in hematological malignancies patients with PICC-DVT is higher than that in non-thrombotic patients. Low-molecular-weight heparin anticoagulant therapy can not reduce the occurrence of PICC-DVT within 1 month after PICC in patients with hematological malignancies, but the treatment is safe and has no relevant bleeding event.
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Objective To observe the infiuence of recombinant human thyroid stimulating hormone(rhTSH)-aided 131I treatment for patients with differentiated thyroid carcinoma (DTC)and its efficacy on thyroid hormone level.Methods 20 cases with DTC admitted from Nov.2010 to Jun.2014 were divided into 2 groups.11 cases received rhTSH-aided 131I treatment (rhTSH-aided group)and the other 9 cases received 131I treatment after thyroid hormone withdrawal (THs withdrawal group).The influence of the 2 treatment methods on the serum TSH,FT3,FT4,Tg was evaluated,and the therapeutic effects were assessed according to 131I whole body scintigraphy (WBS)and Tg-negative rate.Results The serum TSH was significantly higher in rhTSH-aided group than that before treatment(t=27.70,P＜ 0.001)and in THs withdrawal group (t=7.18,P＜0.001).TSH levels of all patients were＞30 mU/L.WBS displayed that the thyroid remnant clearance rate was 72.73％(8 cases)nd 66.67％(6 cases)respectively in rhTSH-aided group and THs with-drawal group and there was no statistical difference between the 2 groups(x2=0.178,0.673).Conclusion The rhTsH treatment can help to accomplish the preparation of 131I treatment for DTC and acquire satisfactory ablation efficacy.
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Objective To evaluate the effect of lipoic acid on endothelial microparticles (EMP) in diabetic patients with peripheral artery disease (PAD) of the lower limbs. Methods Forty eight diabetic patients with PAD of the lower limbs were randomly divided into two groups: the therapeutic group and control group (each group has 24 cases). Patients of control group only received internal comprehensive medicine therapies for 3 weeks. Patients of therapeutic group were treated with both lipoic acid (600 mg lipoic acid injection in normal saline solution for intravenous drip, once daily for 3 weeks) and internal comprehensive medicine therapies at the same time. The levels of EMP in venous blood and Ankle-brachial index (ABI) were estimated before and after treatment by flow cytometry. Results Compared to the control group after treatment [(1 179. 8± 120. 1) per μL], EMP value showed a significant reduction in therapeutic group [(1 032. 4±117. 2) per μL] (P<0. 01). The levels of ABI of therapeutic group (0. 68 ±0. 10) was increased obviously as compared that before lipoic acid treatment (P<0. 01). Patients treated with lipoic acid showed the higher levels of ABI than the control group after treatment (0. 58±0. 11) (P<0. 01). Conclusion Lipoic acid injection significantly decreased the level of EMP in diabetic patients with PAD of lower limbs. Lipoic acid might be an effective drug for diabetic patients with PAD.
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Background:The pathogenesis of irritable bowel syndrome(IBS)is not fully known,social psychological factor is the important factor of IBS,especially the relationship with anxiety and depression. Aims:To investigate psychological stress factor,anxiety and depression in IBS patients among soldiers in northeast area. Methods:A total of 11 400 soldiers in northeast area were enrolled by multistage,stratified,cluster random sampling method asking to fulfill a questionnaire on IBS. Zung self-rating anxiety scale(SAS)and Zung self-rating depression scale(SDS)were assessed,and the relationship with anxiety,depression and stress was analyzed. Results:The incidence of IBS was 15. 9% . Prevalences of anxiety and depression in IBS group were significantly higher than those in non-IBS group(22. 9% vs. 9. 6% ,26. 6% vs. 12. 4% ,P< 0. 05). Score of SAS and SDS in IBS group were significantly higher than those in non-IBS group(50. 86 ± 7. 27 vs. 36. 54 ± 6. 97,53. 47 ± 7. 86 vs. 38. 25 ± 9. 83,P < 0. 05). Positive correlation was found between score of SAS and SDS and stress factors such as feeling lonely,depression,intensive training,working pressure,poor relationship with colleagues,solving emergency event or participating in military exercises in IBS group(P < 0. 05). Conclusions:IBS in soldiers is related with stress and psychological factors.
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Objective To investigate the reversal effect of Topo Ⅱα-shRNA and Topo Ⅱβ-shRNA on Topo Ⅱ gene in K562/AS2 cells. Methods Three pieces of Topo Ⅱα-shRNA and three pieces of Topo Ⅱβ-shRNA were designed,synthesized and transfected into K562/AS2 cells by liposome. Expression level of Topo Ⅱα and Topo Ⅱβ mRNA were determined by real time fluorescence quantitative PCR. The expressions of Topo Ⅱα and Topo Ⅱβ protein were assayed with flow cytometer. Results After treated with Topo Ⅱα-shRNA or Topo Ⅱβ-shRN A for 24 hours,the expression level of Topo Ⅱα mRNA and Topo Ⅱβ mRNA protein in K562/AS2 cells decreased at most (78.22±0.01) %,(31.17±1.27) % (P <0.05),and (57.36±0.01)%,(23.98±1.22) % (P <0.05) respectively. Conclusion The expression of Topo Ⅱ gene can be down-regulated after infected with Topo Ⅱ-shRNA in K562/ AS2 cell line.
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0.05),but enhanced the expression of CD80,CD86 significantly(P