1.3-Hydroxy-isobutyryl-CoA hydrolase deficiency in a child with Leigh-like syndrome and literature review.
Hongmin ZHU ; Xinhua BAO ; Yao ZHANG
Chinese Journal of Pediatrics 2015;53(8):626-630
OBJECTIVETo investigate the clinical features and genetic characteristics of patients with 3-hydroxy-isobutyryl-CoA hydrolase (HIBCH) gene mutations.
METHODThe clinical data of a patient with novel HIBCH mutations were collected, the related literature was searched from China National Knowledge Infrastructure, Wanfang Data Knowledge Service Platform, National Center for Biotechnology Information and PubMed (up to December 2014) by using search terms" HIBCH", "3-hydroxy-isobutyryl-CoA hydrolase" or "beta-Hydroxyisobutyryl CoA Deacylase Deficiency". The clinical features, neuroimage and treatment of the patients with HIBCH gene mutations were studied.
RESULTThe patient was a girl who was born at term after an uneventful pregnancy to non-consanguineous healthy parents, she was hospitalized at 5 years and 5 months of age because of development delay for 5 years and 5 months and abnormal posture on the left of body for more than 10 days. The family history was unremarkable. Her psychomotor development was significantly delayed. Three times brain MRI between 2. 5 years and 5 years of age revealed bilateral symmetrical lesions in basal ganglia. At the age of 5 years and 5 months, she presented with acute encephalopathy and severe extrapyramidal symptoms preceded by fever. At that time, her brain MRI revealed aggravated lesions in bilateral basal ganglia, new lesions in the midbrain cerebral peduncle and pons, and cerebellar atrophy. The results of biochemical tests were normal. A novel compound heterozygous mutation of HIBCH gene, c. 1027C > G, p. H343D and c. 79-1G > T, splicing, were found in the parent. Further study showed that c. 1027 C > G mutation was inherited from her father and c. 79-1 G > T from her mother. Her symptoms were mitigated after "cocktail" therapy and symptomatic treatment. Repeated brain MRI revealed that the lesion in basal ganglia got better, the lesions in brain stem disappeared. Literature relevant to HIBCH published all around the world was reviewed, no Chinese cases with HIBCH gene mutations had been reported, 6 foreign cases with HIBCH gene mutations were reported. Among them, 5 patients were diagnosed as Leigh-like syndrome, with progressive neurodegenerative course, and symmetrical basal ganglia lesions on brain MRI. Another case was reported in 1982, with developmental delay and various physical malformations without data on his brain MRI. HIBCH gene mutational analysis showed that 4 cases had homozygous mutations, which were c. 950G > A (p. G317E) in two brothers, c. 219 _220insTTGAATAG (p. K73fsX86) and c. 1128_1129insT (p. K377X) respectively. Three of them died before 3 years old. Two cases had compound heterozygous mutations: c. 365A > G (p. Y122C) and IVS2-3C > G (p. R27fsX50); c. 517 + 1G > A and c. 410C > T (p. A137V). They were alive at the time of the report.
CONCLUSIONPatients with HIBCH gene mutation mainly presented as Leigh-like syndrome both in clinical manifestation and in neuroimage. HIBCH gene mutational analysis should be performed on children with Leigh-like syndrome, if the mutations of known genes of Leigh syndrome were negative.
Abnormalities, Multiple ; diagnosis ; genetics ; Amino Acid Metabolism, Inborn Errors ; diagnosis ; genetics ; Child ; Child, Preschool ; China ; DNA Mutational Analysis ; Female ; Heterozygote ; Homozygote ; Humans ; Infant ; Leigh Disease ; diagnosis ; genetics ; Magnetic Resonance Imaging ; Male ; Mutation ; Siblings ; Thiolester Hydrolases ; deficiency ; genetics
2.Myoclonus epilepsy with ragged-red fibers:a case report and literature review
Manman ZHAO ; Yao ZHANG ; Xinhua BAO
Journal of Peking University(Health Sciences) 2015;47(6):1034-1036
SUMMARY To demonstrate the clinical manifestation, diagnosis and treatment of myoclonus epilepsy with ragged-red-fibers ( MERRF) , a case of MERRF was presented with review of the literature. A 4-year-7-month-old girl was diagnosed with MERRF. She had tremor, fatigue and developmental delay for more than 2 years. Laboratory tests showed that the serum and urine lactic acid and pyruvic acid increased significantly. Electroencephalogram showed diffuse and focal spike slow wave and slow wave in right central and parietal regions. Electromyogram showed neurological damage. Gene mutational analysis showed mtDNA 8344 A>G mutation. The mutational rate was 78%. Mitochondrial disease MERRF syndrome was diagnosed. Cocktails therapy with vitamins B1, B6, B12, L-carnitine, and coenzyme Q10 was administra-ted to the patient. MERRF is a rare disease. The diagnosis can be made by gene mutational analysis. Cocktail therapy may slow down the deterioration of the disease. Gene therapy is still experimental.
3.The influence of acute normovolemic hemodilution on the level of T lymphocyte subsets in maternity sera
Xinhua HUANG ; Yaqin ZHANG ; Huaqi YAO
Chinese Journal of Primary Medicine and Pharmacy 2015;22(4):532-535
Objective To investigate the effect of acute normovolemic hemodilution on immune function by observing the level change of lymphocyte subsets in maternity sera.Methods 60 ASA I ~ Ⅱ parturients were divided into 2 groups,30 cases in each group.Parturients of group A received acute normovolemic hemodilution and parturients of group C received allogeneic blood transfusion.Blood pressure,heart rate,duration of the cesarean section and blood loss were observed.2mL blood samples were taken from the mothers'vein before the surgery,1 day after the surgery,5 days after the surgery.Flow cytometry was used to measure T lymphocyte subsets.Results The levels of CD3+,CD4+,CD8+,CD4+/CDs+ before the surgery had no statistically significant differences between two groups (P > 0.05).The levels of CD3+ [(52.35 ±5.62)%,(48.44±6.45)%],CD4+ [(36.90±7.93)%,(32.05 ± 8.94)%],CD4+/CD8+ [(1.15 ± 0.26),(0.97 ± 0.22)] were much lower 1 day after the surgery than those of preoperation [CD3+:(59.67 ± 3.45) %,(60.58 ± 4.27) % ; CD4+:(43.71 ± 8.45) %,(43.21 ± 8.45) % ; CD4+/CDs+:(1.41 ±0.38),(1.45 ±0.48)] in both two groups(t =6.10,2.50;3.22,4.97;3.09,4.98;P <0.05).In group A,the levels of CD3+,CD4+,CD4+/CD8+ [(58.78 ± 5.24) %,(43.18 ± 8.48) %,(1.41 ± 0.41)] had no statistical differences 5 days after the surgery(P > 0.05) compared with those of preoperation.While in group C,the levels of CD3+ [(57.11 ± 6.81) %],CD4+ [(38.68 ± 7.70) %],CD4+/CDs+ [(1.19 ± 0.37)] were lower than the levels before the surgery[(60.58 ± 4.27) %,(43.21 ± 8.45) %,(1.45 ± 0.48)],and of the differences were statistically significant (t =2.46,2.17,2.35 ;P < 0.05).Conclusion Compared with allegeic transfusion,acute normovolemic hemodilution could benefit the recovery of parturients by alleviate the inhibitory effect of transfusion on the immune function.
4.Study of a multiplex PCR method for the detection of three Diarrheagenic Escherichia coli
Dong YAO ; Rusheng ZHANG ; Xinhua OU
International Journal of Laboratory Medicine 2015;(8):1032-1033
Objective To establish a multiplex polymerase chain reaction (PCR) method for rapid detection of three kinds of di‐arrheagenic Escherichia coli(EPEC ,EIEC ,EHEC)simultaneously .Methods The eae gene of EPEC ,ipaH gene of EIEC and stx1 gene of EHEC were selected to design primers ;the reaction system and condition were adjusted to optimize the multiplex PCR sys‐tem .Results The target gene fragments were amplified correctly with these primers .The three target bacteria could be detected at the same time by multiplex PCR .Conclusion A rapid multiplex PCR system were successfully established for detection of three di‐arrheagenic Escherichia coli ,and this system could be suitable for rapid screening in food safety .
5.Amelioration of heart function by intracoronary autologous bone marrow mononuclear cells transplantation in idiopathic dilated cardiomyopathy: a clinical study
Yanjun CHEN ; Yao ZHANG ; Xinhua YIN
Chinese Journal of Interventional Cardiology 1993;0(02):-
0.05). No procedure related complications and malignant arrhythmia were found during 6-12 months follow-up. Conclusion Intracoronary transplantation of ABMMNCs is safe and may improve the heart function.
6.Comparison of ocular anterior segment parameters measured by three kinds of biometric measuring methods in myopic eyes
Hongying, JIN ; Ke, YAO ; Yabo, YANG ; Xinhua, DU ; Peijin, QIU
Chinese Journal of Experimental Ophthalmology 2014;32(12):1097-1101
Background It is essential to measure and assess the parameters of ocular anterior segment for refractive surgery in myopic eyes.Some different imaging devices can be used for biometric measurement of ocular anterior segment,but which is more accurate and convenient is still under investigation.Objective This study was to compare the anterior segment parameters in myopic eyes measured by anterior segment optical coherence tomography (AS-OCT),Orbscan topography and ultrasonic pachymetry (US).Methods One hundred and forty eyes of 70 myopic subjects with the diopter of-0.75 to-10.25 D,who intended to receive corneal refractive surgery in the Second Affiliated Hospital of Zhejiang University School of Medicine from November 2011 to May 2012,were retrospectively analyzed.Central corneal thickness (CCT) was measured using AS-OCT,Orbscan Ⅱ and US,respectively,and anterior chamber depth (ACD) was measured by AS-OCT and Orbscan Ⅱ,and the angle to angle (ATA) distance and corneal white-to-white corneal distance (WTW) were measured by AS-OCT and Orbscan Ⅱ,respectively.The parameters from different apparatuses were statistically compared.Results The mean CCT were (516.57±30.25) μm in AS-OCT,(523.68±31.87) μm in US and (514.69±38.40) μm in Orbscan Ⅱ,without significant difference among them (F =2.775,P =0.063).Then the patients were divided into three groups based on the US measurement of CCT (<500 μm group,500-569 μm group,and ≥ 570 μm group).In the <500 μm group,there was a significant difference in the CCT among the three methods (F =22.236,P =0.000),significant differences were found between AS-OCT and Orbscan Ⅱ,or Orbscan Ⅱ and US(both at P<0.05).In the 500-569 μm group,there was no significant difference in the CCT among the three methods (F =3.011,P =0.051).In the ≥ 570 μm group,there was a significant difference in the CCT among the three methods (F =4.133,P =0.021),a significant difference was found between AS-OCT and US(P<0.05),but there was no significant difference between AS-OCT and Orbscan Ⅱ (P>0.05).The ACD values measured by AS-OCT was (3.83±0.21) mm,which was higher than (3.75 ± 0.21) mm by Orbscan Ⅱ,with a significant difference between them (t =-8.520,P =0.000).In addition,the ATA value by AS-OCT (12.43 mm±0.74 mm) was higher than the WTW value (11.42 mm±0.33 mm) by OrbscanⅡ,with a significant difference between them(t=-18.088,P=0.000).Conclusions AS-OCT,US and Orbscan Ⅱ can offer accurate CCT value,and they can provide references to one another before refractive surgery.However,the ACD,ATA and WTW values by AS-OCT and Orbscan]Ⅱ have large differences.
7.Comparison of effects of allogeneic blood transfusion and hemodiluted autotransfusion on cellular immune function in patients undergoing cesarean section
Xinhua HUANG ; Yaqin ZHANG ; Huaqi YAO ; Huili ZHU
Chinese Journal of Anesthesiology 2016;36(2):199-202
Objective To compare the effects of allogeneic blood transfusion and hemodiluted autotransfusion on cellular immune function in the patients undergoing cesarean section.Methods Sixty patients,aged 20-35 yr,weighing 50-80 kg,of American Society of Anesthesiologists physical status Ⅰ or Ⅱ,scheduled for elective cesarean section,were randomly divided into 2 groups (n =30 each) using a random number table:hemodiluted autotransfusion group (group HAT) and allogeneic blood transfusion group (group ABT).Both groups received epidural anesthesia.The radial artery was cannulated after epidural anesthesia,and the autologous blood was collected in group HAT.The autologous blood transfusion timing:intraoperative blood loss was expected to exceed 20% of blood volume.For the patients in whom intraoperative blood loss was not expected to exceed 20% of blood volume,bleeding was stopped,and autologous blood was infused intravenously after peritoneum closure.The allogeneic blood transfusion timing:when hemoglobin < 70 g/L,packed red blood cells 1-5 U were infused intravenously;when prothrombin time,or activated partial thromboplastin time > 1.5 times of the normal value,the fresh frozen plasma 100-400 ml was infused intravenously;when platelet count<50× 109/L,platelets 10-40 U were infused intravenously.When entering the operating room (T0),on 1st day after operation (T1),and on 5th day after operation (T2),blood samples were collected to detect the levels of T lymphocyte subsets CD3+,CD4+ and CD8+ (using FACScan flow cytometer),and serum interleukin-2 (IL-2) and IL-6 concentrations (by enzyme-linked immunosorbent assay).CD4+/CD8+ ratio was calculated.Results Compared with the values at T0,the levels of CD3+ and CD4+,CD4+/CD8+ ratio,and serum IL-2 concentrations were significantly decreased,and the serum IL-6 concentrations were increased at T1,2 in group ABT,and at T1 in group HAT (P<0.05).Compared with group ABT,the CD3+ and CD4+ levels,CD4+/CD8+ ratio and serum IL-6 concentrations were significantly increased at T1,and the serum IL-2 concentrations were increased at T1,2 in group HAT (P<0.05).Conclusion Compared with allogeneic transfusion,hemodiluted autotransfusion has less inhibitory effect on cellular immune function in the patients undergoing cesarean section.
8.Uncertainty Evaluation for Content Determination of Lamivudine Tablets by HPLC
Zhen LIN ; Wensong YAO ; Namei WU ; Xinhua LIN
China Pharmacy 2015;(21):2968-2970
OBJECTIVE:To establish a method for the uncertainty evaluation of determining content of Lamivudine tablets by HPLC. METHODS:HPLC was established to determine the mathematical model of Lamivudine tablets contents,analyze the uncer-tainty sources in detail and evaluate each uncertainty components and combined uncertainty to obtain the expanded uncertainty. RE-SULTS:Uncertainty of Lamivudine tablets contents determined by HPLC was mainly from reference purity,weighing standard and glassware tolerance. Standard uncertainty was 0.21% and expanded uncertainty was 0.42%. The range of content determination was (99.76 ± 0.42)%,k=2. CONCLUSIONS:The method is suitable for uncertainty evaluation of Lamivudine tablets by HPLC,and provides reference for the quality control in laboratory and objective evaluation of Lamivudine tablets.
9.Curative efficacy of compound tanshin injection and acupuncture and moxibustion in treatment of peripheral nerve injury its effects on nerve function
Lianbing LIN ; Xinghui ZHOU ; Xinhua WANG ; Weixing JI ; Yao ZHENG
Chinese Journal of Biochemical Pharmaceutics 2017;37(4):166-168
Objective To study curative efficacy of compound tanshin injection and acupuncture and moxibustion in treatment of peripheral nerve injury its effects on nerve function.Methods 110 patients of peripheral nerve injury whoreceived therapy from April 2014 to September 2014 in our hospital were selected as research objects,according to the treatment were divided into observation group and control group,observation group using curative efficacy of compound tanshin injection,the control group using compound tanshin injection and low frequency dc therapy.Observe clinical efficacy of the two groups after treatment,compared two groups before and after treatment can motor nerve and sensory nerve nerve conduction velocity,and to evaluate the basic function after treatment.Results After treatment,the observation group total effectiveness 94.5%,obviously higher than the control group total effectiveness 81.8%,significant difference(P< 0.05); Observation group after treatment of nerve function was 80.0%,significantly higher than the control group was 60.0%,significant difference(P<0.05); And after the treatment of motor nerve and sensory nerve conduction velocity observation group were significantly higher than the control group,significant difference(P<0.05).Conclusion Curative of compound tanshin injection and acupuncture and moxibustion in treatment of peripheral nerve injury,can significantly improve patients with nerve function,improve the effect of treatment,and no side effect,is worth popularizing in clinic.
10.Influence on expressions of inflammatory cytokines by different postoperative analgesic in elder patients with hip replacement
Yi LU ; Weifeng TU ; Xinhua YAO ; Jianhua LU
The Journal of Practical Medicine 2014;(23):3755-3758
Objective To evaluate influence of patient-controlled intravenous analgesia (PCIA) and patient-controlled epidural analgesia (PCEA) on expressions of serum inflammatory cytokines in elderly patients with hemi or whole hip replacement using cemented artificial joint. Methods Elderly patients undergoing hip replacement were selected and were divided into PCIA group and PCEA group. VAS scores were calculated at 12 h postoperatively. Patients whose VAS scores were not more than 2 at postoperative 12h were included. 30 cases in each group were finally included. Fifteen cases were randomly chosen in each group and underwent sample blood drawing for assays. Expressions of serum inflammatory cytokines were detected by ELISA , RT-PCR and Western-blot. Results Gene and protein expressions of TNF-a as well as IL-6 in group PCEA were lower and expression of IL-10 was higher than that in group PCIA. Serum level of TGb-β was higher in group PCEA detected by ELISA. There was no significant difference in expression of IL-8 between groups. Conclusions PCEA may better promote expressions of anti-inflammatory cytokines and inhibit expressions of proinflammatory cytokines. PCEA is superior in maintenance of inflammatory cytokine balance.