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.

Humanism ; Humans ; Orthopedics

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

Humans ; Orthopedics ; trends

? 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.

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

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 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 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 explore the change and clinical significance of serum Cystain-C in children with Henoch-Schonlein purpura(HSP).Methods Thirty-three children diagnosed HSP according to the domestic criteria hospitalized in department of pediatrics were enrolled in patient group and 31 children outpatients during the corresponding time period as controls.Venous blood of each child in 2 groups was collected in the day of admission,serum Cystain-C was determined by enzyme-linked immunosorbent assay,plasma D-dimer was measured by gold standard double antibody sandwich method,and blood urea nitrogen(BUN) and serum creatinine(Scr) were detected by automatic biochemistry analyzer.At the same time each child undertook routine urine examination.Data was analyzed by Stata 8.0 software.Results 1.BUN and Scr of 2 groups were both normal.2.Proteinuria or hematuria was found in 15 of all 33 patients through routine urianlysis,and the detection rate was 45%.3.The pre-and post-therapy level of serum cystain-C[(3.83?0.83) mg/L,(3.76?1.02) mg/L] and plasma D-dimer [(1.93?2.05) mg/L,(0.77?0.79) mg/L] in HSP group were higher than that in controls [(1.21?0.43) mg/L,(0.13?0.07) mg/L] significantly (P0.05).5.In HSP group,the level of plasma D-dimer pretherapy was significantly higher than that of post-therapy(P0.05).Conclusion The level of serum Cystain-C can act as the significant indicator of early diagnosis and continuous observation of HSP nephritis.