Citrin deficiency is an autosomal recessive disorder caused by mutations of the SLC25A13 gene.As a calcium binding mitochondrial aspartate glutamate carrier,Citrin plays an important role not only in the urea synthesis but NADH shuttle as well.Citrin deficiency has two phenotypes:adult-onset typeⅡcitrullinemia and neonatal intrahepatic cholestasis.Citrin deficiency is a common congenital metabolic defect first found in Japan and now is considered as a global disease.

Arthroplasty, Replacement ; methods ; Diskectomy ; methods ; Humans ; Spinal Diseases ; surgery ; Spine ; surgery

Humanism ; Humans ; Orthopedics

Humans ; Orthopedics ; trends

Adolescent ; Humans ; Scoliosis ; classification ; surgery ; Spinal Fusion ; methods

? The choroidal vasculature provides oxygen and nutrients to the outer retina, and is responsible for maintaining the highly metabolically active photoreceptor cells. The normal structure and function of its vascular system is very important for the retina. So it is more meaningful to observe the choroid morphology for tracking pathological changes in diabetic retinopathy. With the application of the high resolution optical coherence tomography ( OCT ) technology, spectral -domain optical coherence tomography ( SD - OCT ) enhanced depth imaging technology can be used to measure the choroidal thickness quantitatively, which provides a new idea for the diagnosis and treatment of diabetic retinopathy. Therefore, the research and progress of choroidal thickness on diabetic retinopathy by OCT are summarized as follows.

Objective To study the diagnostic value of detecting pre-albumin,albumin and protein electrophoresis in the serum of patients with fever of unknown origin.Methods Serum pre-albumin,albumin and protein electrophoresis were detected in 86 patients with fever of unknown origin and 26 controls.Results The level of albumin and pre-albumin in fever of unknown origin group was lower than that of control group(P

Objective To investigate the significance of EGF in the in vitro maturation, fertilization, and pre-implantation development of the immature oocytes. Methods The immature oocytes were isolated from the ovaries of the rats. The germinal vesicle (GV) oocytes were cultured in the EGF solutions at concentrations of 0(control), 0.5, 1, 2.5, 5 and 10 ng/ml Ham’s F10 culture media. The status of germinal vesicle break-down(GVBD) and the extrusion of the first polar body (PB1) were observed. The achieved MⅡoocytes were then inseminated in vitro; and the pronuclei (PN) and the pre-implantaon development were observed. The gradeⅠ-Ⅱ4-cell embryos were selected and implanted into the fallopian tube of the rats with the 1 day pseudogestation. Follow-up observations were made till the delivery. Results After GV oocytes were treated with EGF solutions at concentration of 1, 2.5, 5 and 10 ng/ml for 12, 16, 20, and 24 h, the GVBD in the GV cumulus-oocyte complexs(COC) have better outcomes than that of the control group(P

Objective To evaluate the diagnostic level of infantile vitamin B_1 deficiency encephalopathy.Methods Clinical featuresand CT images in 45 cases of infantile vitamin B_1 deficiency encephalopathy proved by clinical treatment and follow-up were analyzedretrospectively.Results CT images depicted bilateral symmetrical low-density regions in the lentiform nucleus and the head of caudatenucleus in all 45 cases.The regions were reniform,upsiloid,butterfly or oval.Bilateral symmetrical low-densities of frontal,temporal or parietal lobes were found in some cases.Other CT findings included extensions of longitudinal fissures,lateral fissures and cerebral grooves.Experimental treatments of vitamin B_1 made remarkable clinical improvements.Conclusion CT scanning is extremely useful in thediagnosis of infantile vitamin B_1 deficiency encephalopathy.

Objective　To study chemotherapy sensitivity and apoptosis in tumor cell line.Methods　Two different human colon carcinoma cell lines, LoVo and Ls-174-t were incubated with DDP,MMC,5-FU，EPI at various peak plasma concentrations (PPC), 1/10PPC，1/5PPC，5PPC and 10 PPC. Apoptosis was detected by FACScan and TUNEL technique after 24 hours and 48 hous. Cell growth inhibition rates were assessed by MTT, DNA ladder were examined by agarose electrophoresis.Results　At 48 hours, the highest cellular apoptosis rates were observed with PPC which was assessed by FACScan technique. There was a positive linear correlation between apoptosis assessed by TUNEL technique and growth inhibition rates of cells determined by MMT(P＜0.05).Conclusion　Using Annexin-V-Fluos staining FACScan technique to assess apoptosis of tumor cells is an exploring and useful method which can be used to choose both kinds and doses of chemotherapeutic drugs.