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

Objective To analyze the long-term results of fractionated stereotactie radiotherapy(FSRT)for the local residual lesion after the first course of radiotherapy for nasopharyngeal carcinoma.Methods From July 1997 to July 2002,46 patients were treated with FSRT.According to the 1992 Fuzhou staging system,the number of patients was 1,6,30 and 9 with stage Ⅰ,Ⅱ,Ⅲ and Ⅳ disease,respectirely;3,11,27 and 5 with T1,T2,T3 and T4 tumor,respectively;14,16,12 and 4 with N0,N1,N2and N3 disease.Radiotherapy was delivered to tumors with the total of dose 68-70 Gy in 7-8w.Chemotherapy(2 cycles of PVF or POF)was given to the patients with stage Ⅲ and Ⅳ a disease.FSRT was given to the residual disease with the total dose of 18-24 Gy in 3 fractions with an interval of 3-7 days.The reference dose line was 70%-90%.Resuits CR and PR rates in this group were 61%and 39%,respectively.The overall survival rates of each year from 1- to 5-year were 100%,87%,83%,78%and 76%.The 1-,3- and 5-year disease-free survival rates were 100%,93%and 89%;The distant metastasis-free survival rates were 100%,85%and 79%;The local-regional control survival rates were 100%,94%and 91%.Seventeen patients who died during the follow-up period were 1 for local cervical lymph node recurrence,2 for fatal nasopharyngeal hemorrhage,4 for local nasopharynx recurrence,and 10 for distance metastases. Conclusions Fraetionated stereotactic radiotherapy is safe and effective for the patients with residual lesion of nasopharyngeal carcinoma at the primary site after radiotherapy.The optimized fractionation and total dose requires the further investigation.

Objective To evaluate the present rehabilitation status of mentally ill patients at community health service centers in Shanghai. Method Investigation on mental disorder network, present prevalence, community disease classification, and cost-effect assessment was conducted in 201 health service centers in Shanghai in 2007. Result Working condition, staff-member constitution, and finical investment were unoptimistic. However, the community health service centers consider the outcomes of community rehabilitation and management were satisfactory. Conclusion It should be necessary to facilitate the development of community mental health service system, achieve various community rehabilitation and health care, and improve social security system of community healthcare providers.

AIM: To investigate the inhibitory effect of L-carnitine on high glucose-induced apoptosis of human aortic endothelial cells (HAECs) and the molecular mechanisms.METHODS: The apoptosis of HAECs was induced by high-glucose incubation.HAECs were treated with L-carnitine at different concentrations (50, 100 and 200 μmol/L).The cell viability was measured by MTT assay.The cell apoptosis was assessed by Hoechst 33258 staining and flow cytometry.Colorimetric method was employed to detect the caspase-3 activity in the HAECs.The protein expression and phosphorylation levels were determined by Western blot.RESULTS: High-glucose incubation dramatically decreased the cell viability and induced apoptosis.The protein kinase R-like endoplasmic reticulum kinase (PERK), inositol-requiring enzyme-1 (IRE1) and activating transcription factor 6 (ATF6) signaling pathways of endoplasmic reticulum stress were activated to induce cell apoptosis via down-stream caspase-4/3 cascade.However, L-carnitine treatment significantly attenuated the cell apoptosis and increased the cell viability in a concentration-dependent manner.L-carnitine also significantly suppressed endoplasmic reticulum stress and ATF6 signaling in high glucose-incubated HAECs without attenuating PERK and IRE1 signaling.The expression of site-1 protease (S1P) and site-2 protease (S2P) was inhibited by L-carnitine treatment, thus decreasing pro-apoptotic factor ATF6 p50 produced by ATF6 cleavage.CONCLUSION: L-carnitine inhibits high glucose-induced apoptosis of HAECs by inhibiting ATF6 signaling.

Objective To evaluate the clinical value of ultrasound in evaluating the wrist nerve stem.Methods The examination of the high-resolution ultrasound about normal median nerve,ulnar nerve,radial nerve in the wrist on 100 normal volunteers,the courser,shape and sonographic appearance of the nerve stem were observed,and the vertical and horizontal diameter and the area of cross-section were measured.Results (1)Ultrasound clearly showed the nerve stem arranged and organization structures around it.(2) Ultrasound entirely measured the vertical and horizontal sections of normal median nerve,ulnar nerve,radial nerve in the wrist,besides it measured various diameters and the cross-section area.By comparing the vertical diameter of MN and RN between left hand and right hand of the same sexuality,the difference had no statistical significance (P＞0.05).By comparing the various diameters of UN between left hand and right hand of females,the difference had no statistical significance (P＞0.05) By comparing the vertical diameter between left hand and right hand of male,the difference had statistical significance (P＜0.05).To compare the vertical diameter of MN,RN and UN between male and females on the same side,the difference had statistical significance (P＜0.05).To compare the CSA of MN,RN and UN between left hand and right hand of the same sexiuality,the diffevence had no statistical significance (P＞0.05);By comparing the CSA of MN,RN and UN between male and females on the same side,the diffevence had statistical significance (P＜0.05).Median nerve cross-sectional area (CSA) and weight correlation was statistically significant (P ＜ 0.05) in a straight line,no statistically significant correlation was found between age and height (P＞ 0.05).(3) High resolution ultrasound clearly showed the neural surrounding adjacent to the organizational structure,and in line with gross anatomy section.Conclusion Ultraound has a clinical evalution value for examing the wrist nerve

Objective:To treat the burned wounds with Kangmeifu burns ointment and observe the expression levels of EGF,TNF-? and TGF-?1 in the process of wound healing.Methods:Immunohistochemistry and image analysis methods were conducted to examine the expressions of EGF,TNF-? and TGF-?1 in both groups at 3,5,7,9 and 14 days after scalding.Results:①Expression of EGF:EGF began to express from the 1stday.It expressed significantly at the 5th day,maintained a higher level at the 7th and 14th days.In the blank control side,the peak expression occurred at the 7th day.② Expression of TNF-?:TNF-? had two peaks respectively in both sides.The peaks in the blank control side ocurred at the 3th and 9th days respectively,and the peaks in the Kangmeifu burns ointment treated side ocurred at the 3th and 7th days,and the second peak was obviously earlier than that in the blank control side.③Expression of TGF-?1 :TGF-?1 began to express from the 1stday.It expressed significantly at the 5th day,and reduced at the 9th day.In the blank control side,the peak expression occurred at the 7th day.In the blank control side,there was almost no TGF-?1 expression at the lst day.It expressed weakly at the 3th day.The peak expression occurred at the 7th day.Conclusion:Kangmeifu burns ointment can accelerate the process of wound tissue healing through enhancing EGF,TGF-?1 expression at the beginning and inhibiting TNF-? overexpression later.

AIM:To develop a HPLC method for determining scutellarin and geniposide in Yinshanlian Granules(Herba Artemisiae scopariae,Herba Scutellariae barbatae, Fructus Gardemiae,etc). METHODS: The analysis was performed on Diamonsil C_(18)(200 mm?4.6 mm,5 ?m) with mixture of acetonitrile(A) and 0.1% phosphoric acid solution as mobile phase in gradient mode.The concentration of solvent A were 5%,33%,5% and 5% at 0,30,31 and 35 min,respectively.The detection wavelength was set at 240 nm and the column temperature was at 30 ℃.(RESULTS:)The linear calibration curves were obtained in the concentration range of 0.032-0.288 mg/mL for scutellarin and 0.009 6-0.086 4 mg/mL for geniposide.The average recoveries of scutellarin and geniposide were 100.6%(RSD=0.80%,n=9),102.6%(RSD=1.1%,n=9),respectively.CONCLUSION: The method is quick,simple,and reproducible,which can be used to control the quality of Yinshanlian Granules.

Objective To study the effect of surface physical properties of different materials for the artificial joint pros -thesis interface on Mycobacterium tuberculosis adhesion .Methods The surface polishing coating , titanium coating and hydroxyapatite coating were chosen as the experimental materials to analyze the surface topography and measure the surface roughness, contact angle and surface energy .The M.tuberculosis strains were used by in vitro cultivation method and ob-served by scanning electron microscopy (SEM) to study the morphology of M.tuberculosis and the material surface adhe-sion.The influence of surface physical properties of the interface of the artificial joint prostheses on the proliferation and ad -hesion of bacteria was evaluatd .Results The titanium coating and hydroxyapatite coating materials were hydrophobic , while the surface polishing coating was hydrophilic .The contact angle and surface energy were significantly different ( P<0.05).In the process of bacterial culture of the three types of materials , there was no significant difference (P>0.05)in the OD value of bacterial solution .The titanium coating had the largest amount of interface adhesion for M.tuberculosis, fol-lowed by the hydroxyapatite coating and the polishing coating .The difference between various materials was statistically sig-nificant (P<0.05).Conclusion The adhesion of M.tuberculosis in the surface of artificial joint prosthesis materials is closely related to the surface physical properties .A adhesiveness improves with surface roughness .

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