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

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.

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.

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 .

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.

OBJECTIVETo evaluate the diagnostic value of micro-movement sensitive mattress sleep monitoring system (MSMSMS) in children with obstructive sleep apnea hypopnea syndrome.

METHODSSixty-five children with the complaint of sleep disorder were collected and detected by polysomnography and micro-sensitive mattress sleep monitoring system overnight at least seven hours. The date from two instruments were analyzed by computer automatically and then modified by two professional staff double-blind separately. The data about the diagnosis of sleep breath disorder and other sleep physiology information were compared between the two groups.

RESULTSSixty-one cases finished the study finally. The mean age of these children was (7.0 ± 2.7) and the youngest was 3 years old, maximum was 13 years old, male children 46 cases, female patients 15 cases, body mass index (BMI) median [25 quantile; 75 quantile] 16.00 [14.80;17.5]kg/m2. Mean PSG measured apnea hypopnea index (AHI) was 4.50 [2.30;10.15] times/h, and mean MSMSMS AHI was 3.63 [2.56; 6.43] times/h. There was a significant correlation between PSG AHI and AHI by MSMSMS (r = 0.935, P < 0.01). A Bland-Altamplot of PSG AHI and MSMSMS AHI was also used to assess the accuracy of MSMSMS. 95. 1% of the data was fallen in the 95% consistency areas. For AHI--5 times/h and nighttime minimum oxygen < 91% or obstructive apnea index( OAT) > 1 time/h and nighttime minimum oxygen saturation < 91 % as threshold value, the MSMSMS diagnosing sensitivity and specificity were 82.9% and 92.3%. The misdiagnosis rate and missed diagnosis rate were 7.7% and 17.1%.

CONCLUSIONSThe MSMSMS offer a simple and comfortable method to monitor children's sleep. It improves the compliance in the process of sleep monitoring. Besides, as a diagnostic tool in the diagnosis of OSAHS on children has a high credibility in AHI.

Adolescent ; Body Fluids ; Child ; Child, Preschool ; Diagnostic Errors ; Double-Blind Method ; Female ; Humans ; Male ; Oxygen ; Polysomnography ; methods ; Seasons ; Sensitivity and Specificity ; Sleep Apnea, Obstructive ; diagnosis

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.

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.

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.

OBJECTIVE:To prepare Luhuifangba burn cream and establish a method for its quality control.METHODS:The burn cream was prepared from freeze-dried powder of aloe barbadensis miller gel,borneol,hexadecanol,cosmolin,sodium dodecylsulfate,glycerol,ethylparaben and distilled water.Polysaccharide in the preparation was identified by paper chromatography,and borneol was identified by means of the color reaction between1%vanillin-sulfuric acid and bornyl alcohol and isoborneol.The content of polysaccharide in the cream was determined using anthrone-sulfuric acid method.RESULTS:The preparation was a cream in ivory white color,which spread easily and smelled slightly oily.Polysaccharide and borneol in aloe were able to be identified by the above-mentioned method.The linear range of polysaccharide was0.02～0.2mg/ml,and the average recovery was106.3%(RSD=2.5%).CONCLUSION:The preparation method is feasible,and the quality control method is simple,accurate,and reproducible.