Objective To investigate the pattern of plasma kisspeptin levels in normal female during various pubertal Tanner stages and the girls with idiopathic central precocious puberty(ICPP) or with premature thelarche(PT), and to evaluate the significance of detecting plasma kisspeptin levels as a new criterion for early differentiation between ICPP and PT.Methods Each study group of normal pubertal females with Tanner stage Ⅰ to Ⅴ comprised 16 to 19 individuals.The levels of plasma kisspeptin were also detected in girls with ICPP(n= 10)or PT(n = 12).The plasma kisspeptin levels were detected by enzyme-linked immunosorbent assay (ELISA).Results The level of kisspeptin was significantly higher in ICPP group than in that of PT group [(1.73±0.23 vs1.43±0.29) ng/ml, P＜0.05].Among the normal pubertal females, the level of kisspeptin decreased gradually from Tanner stage Ⅱ to Tanner stage Ⅴ, being highest in Tanner stage Ⅱ [(1.73±0.22) ag/ml] ,lower in stage Ⅳ and Ⅴ than in stage Ⅰ and Ⅲ (P＜0.01).Conclusions Plasma kisspeptin level was the highest during Tanner stage Ⅱ in normal female pubertal development.It is significant to detect plasma kisspeptin level for the differential diagnosis of ICPP and PT.

BACKGROUND:Brain natriuretic peptide, an important serum marker for diagnosis of cardiovascular diseases, is crucial for risk factor analysis of cardiovascular diseases.
OBJECTIVE: To analyze the relationship between brain natriuretic peptide and hemodynamic parameters before and after coronary artery bypass grafting.
METHODS:Thirty patients with coronary heart disease undergoing coronary artery bypass grafting were selected, including 13 patients with left ventricular ejection fraction≥ 50% (normal heart function) and 17 patients with left ventricular ejection fraction < 50% (cardiac insufficiency). Levels of plasma brain natriuretic peptides were detected at 1 day before transplantation, 7 hours, 1, 3, 5, 7 days after transplantation, and then the correlation between plasma brain natriuretic peptide levels and hemodynamic parameters was analyzed before and after coronary artery bypass grafting.
RESULTS AND CONCLUSION: Preoperative and postoperative levels of plasma brain natriuretic peptides were significantly lower in the patients with left ventricular ejection fraction≥ 50% than those with left ventricular ejection fraction < 50%; while in each group, the level of brain natriuretic peptides was remarkably increased after coronary artery bypass grafting (P < 0.05 orP< 0.001). Preoperative brain natriuretic peptide levels were positively correlated with New York Heart Association classification grading, left atrial diameter and left ventricular diameter (r=0.61;r=0.34;r=0.67), but negatively correlated with echocardiographic left ventricular ejection fraction and cardiac output (r=-0.75;r=-0.70). The postoperative peak level of brain natriuretic peptides was positively correlated with New York Heart Association classification grading, echocardiographic left ventricular end diastolic diameter and pulmonary artery pressure (r=0.72;r=0.70;r=0.45). These findings indicate that the plasma level of brain natriuretic peptides before coronary artery bypass grafting shows a good correlation with left ventricular ejection fraction and left ventricular end diastolic diameter, which accurately reflect the state of cardiac function before coronary artery bypass grafting.

Objective To analyze blood Met、 Phe 、Tyr、 Arg、 Cit、 Orn、 Ser、 Thr、 C0、 C2、 C3、 C14、C14 ∶ 1 , C16 , C16 ∶ 1 , C18 , C18 ∶ 1 and urine 4-OH-PHPLA , 4-OH-PHPPA level of NICCD patient and discuss the application value of diagnosis NICCD. Methods From May 2011 to May 2015, 21 NICCD patient were diagnose in Guangxi Newborn Screening Center. Meanwhile, 100 normal children were selected as the control group. Blood Met, Phe, Tyr and other factors and urine 4-OH-PHPLA, 4-OH-PHPPA level were analyzed by SPSS. Results In the experimental group, blood Met, Phe, Tyr and many other indexes and urine 4-OH-PHPLA, 4-OH-PHPPA level were higher and blood Orn/Cit were lower than the control group(P < 0.05), while blood C2and Cit/Arg were increased (P > 0.05). Conclusion NICCD patient has abnormal biochemical index. Blood test by TMS and urine test by GC-MS are very important in NICCD diagnosis.

BACKGROUND:Electroacupuncture has promoting effects on the functional recovery of the injured spinal cord, can decrease pain, and elevate postoperative effect after acute spinal cord contusion.OBJECTIVE:To observe the effect of electroacupuncture on apoptosis in the injured site after spinal cord contusion, and analyze its neuroprotective effects on neurological function in rats with spinal cord contusion. METHODS:A total of 66 adult female Sprague-Dawley rats were randomly divided into: sham surgery group (n=20), spinal cord contusion group (n=20), electroacupuncture stimulation group (n=20) because six rats were excluded due to modeling failure and death. Before model establishment, at 1, 3 days, 1, 2, 3 and 4 weeks after model establishment, motor functions were evaluated by BBB score and the inclined plate test. At 3 days after model establishment, apoptosis of nerve cels could be detected in the site of injury in each experimental group using TUNEL assay. mRNA and protein expression of bax, bcl-2 and caspase-3 was detected surrounding the injury site using RT-PCR and western blot assay. Morphological changes in the site of injury could be observed using hematoxylin-eosin staining. The regeneration of nerve fibers was observed using HRP tracing. RESULTS AND CONCLUSION:(1) Motor function score was significantly increased at various time points in the 2nd week of treatment in the electroacupuncture stimulation group than in the spinal cord contusion group (P< 0.05). (2) Apoptotic index was significantly lower in the electroacupuncture stimulation group than in the spinal cord contusion group at 3 days after model establishment (P < 0.05). (3) mRNA and protein expression of bax and caspase-3 was significantly lower in the electroacupuncture stimulation group than in the spinal cord contusion group at 72 hours (P < 0.05); bcl-2 gene and protein expression was significantly higher (P < 0.05). (4) The number of HRP-positive nerve fibers was highest in the sham surgery group, folowed by electroacupuncture stimulation group, and lowest in the spinal cord contusion group at 4 weeks (P < 0.05). Results indicated that electroacupuncture plays a protective role on the spinal cord contusion by reducing apoptosis of nerve cels at the site of injury.

BACKGROUND:Neural stem cel transplantation alone has achieved unsatisfactory outcomes in the repair of damaged spinal cord tissues. To promote the survival, proliferation and neuronal differentiation of transplanted cels in vivo, it is necessary to further improve the micro-environment of spinal cord injury.
OBJECTIVE:To investigate the effect of neural stem cel transplantation plus electroacupuncture on the hindlimb function and electrophysiological changes of rats with spinal cord injury.
METHODS: Animal models of spinal cord injury were made in 72 Sprague-Dawley rats and randomized into four groups: control group with injection of culture mediumvia the tail vein; neural stem cel group with injection of neural stem cel suspensionvia the tail vein; electroacupuncture group given 1-week electroacupuncture atDu meridian and body points starting from 6 hours after modeling; combined group given injection of neural stem cel suspension via the tail vein+1-week electroacupuncture atDu meridian and body points starting from 6 hours after modeling. Motor functional recovery in rats was assessed by Basso-Beattie-Bresnahan score and inclined plane test before and at 1, 3 days and 1-4 weeks after modeling. At 4 weeks after modeling, hematoxylin-eosin staining was performed for pathological observation; fluorescence microscope was used to observe the survival and distribution of CM-Dil-labeled neural stem cels; horseradish peroxidase tracer was used to observe nerve fiber regeneration; rat neurophysiological recovery was assessed by determining motor evoked potentials and somatosensory evoked potentials.
RESULTS AND CONCLUSION:At 2-4 weeks after modeling, the hindlimb function was better in the combined group than the neural stem cel group and electroacupuncture group; while it was better in the neural stem cel group and electroacupuncture group than the control group. At 4 weeks after modeling, there were few nerve axon-like structures and smal voids in the spinal cord of the neural stem cel group and electroacupuncture group; however, in the combined group, there were more nerve axon-like structures and no void in the spinal cord. At 4 weeks after modeling, the number of nerve fibers positive for CD-Dil and horseradish peroxidase was ranked as folows: combined group > neural stem cel group and electroacupuncture group > control group, and there were significant differences between groups (P < 0.05). The latencies of motor and somatosensory evoked potentials were significantly lower in the combined group than the neural stem cel group and electroaucpuncture group folowed by the control group (P < 0.05), whereas the amplitudes of motor and somatosensory evoked potentials were significantly higher in the combined group than the neural stem cel group and electroacupuncture group folowed by the control group (P < 0.05). In conclusion, these findings indicate that neural stem cel transplantation combined with electroacupuncture can promote synaptic regeneration and improve the motor and electrophysiological functions of rats.

Objective Design short stature panel with gene curration strategy.Methods The gene curation process was introduced in detail.The strength of a gene-disease relationship was evaluated based on publicly available genetic and experimental evidence.This process in short stature panel design and its effect on gene selection was further demonstrated.Results After gene curation, the number of gene in list was effectively decreased from 1 276 to 705.The panel sequencing reached a diagnosis rate of 19.7% among a cohort of 371 nation-wide ascertained short stature patients.The gene curation process reduced the risk of false positive findings and decreased diagnostic cost and working hours without affecting the diagnosis rate.Conclusion Gene curation is an important step for NGS-based test and should be widely exercised.

Objective To investigate the curcumin (Cur)-induced protective effect on PC12 cells exposed to glutamate (Glu).Methods PC12 cells were exposed to the medium containing high-level glutamate to mimic oxidative injury of neuronal cells.The PC12 cells were divided into control group (cells cultured in normal medium),Glu treatment group (cells cultured in the medium containing 15 mmol/L glutamate),Cur+Glu treatment group (cells cultured in the medium containing 10 μmol/L curcumin plus 15 mol/L glutamate) and Cur treatment group (cells cultured in the medium containing 10 μmol/L curcumin alone).After 24 h incubation,MTT method was used to assess the cell viability;specific reagent kit was taken to evaluate the lactic dehydrogenase (LDH) release and intracellular reactive oxygen species (ROS) level;phase contrast microscope was taken to record the cell morphology;and Western blotting was used to determine the expressions of apoptosis-associated proteins (Bax and Bcl-2).Results As compared with the control group,the Glu treatment group had decreased cell viability,increased LDH release,injured cell morphology,enhanced intracellular ROS level,up-regulated Bax expression and down-regulated Bcl-2 expression,with significant differences (P＜0.05).As compared with those in the Glu treatment group,significantly meliorated cell viability,decreased LDH release,protected cell morphology,reduced ROS level,down-regulated Bax expression and up-regulated Bcl-2 expression in the Cur+Glu treatment group were noted (P＜0.05).The above indexes between the control group and Cur treatment group showed no significant differences (P＞0.05).Conclusion Cur attenuates the glutamate-induced oxidative injury in PC 12 cells.

OBJECTIVETo explore the molecular etiology for a Chinese family affected with isolated methylmalonic acidemia (MMA).

METHODSPotential mutations of MUT, MMAA and MMAB genes in the proband were screened by PCR and Sanger sequencing. The pathogenicity of identified mutations was analyzed using Polyphen2, SIFT, HSF, DNAMAN 6.0 and Swiss-PdbViewer4.1.0 software.

RESULTSTwo novel mutations of the MUT gene, including c.581C>T (p.P194L) and c.1219A>T (p.N407Y), were discovered in the proband, which were inherited respectively from his mother and father. Bioinformatics analysis suggested that both mutations were damaging. The affected codons P194 and N407, both located in the (beta, alpha) 8 barrel domain and to which the substrate methylmalonyl-CoA is bound, are highly conserved across various species. Both mutations can disrupt the space conformation of its protein product, affecting the function of the MCM protein.

CONCLUSIONThe novel mutations of MUT gene probably underlie the isolated MMA in this family.

Adult ; Amino Acid Metabolism, Inborn Errors ; enzymology ; genetics ; Amino Acid Sequence ; Animals ; Asian Continental Ancestry Group ; genetics ; Base Sequence ; China ; Female ; Humans ; Infant ; Male ; Methylmalonyl-CoA Mutase ; genetics ; Molecular Sequence Data ; Mutation ; Mutation, Missense ; Pedigree ; Point Mutation ; Sequence Alignment

OBJECTIVETo explore the molecular mechanism for a boy suspected with 3-methylcrotonyl-CoA carboxylase deficiency by neonatal screening.

METHODSPCR and Sanger sequencing were used to identify potential mutations of MCCC1 and MCCC2 genes. SIFT and Polyphen-2 software was used to predict the effect of variant on the protein function and conservation of the variant across various species. Human Splicing Finder and Swiss-PdbViewer4.1.0 were applied to analyze the possible mechanism of the variant.

RESULTSFor the proband, a compound heterozygous mutation was discovered in the MCCC1 gene, namely c.539G>T (p.G180V) and c.704_711del (p.A235Vfs*4), which were inherited from his father and mother, respectively. The two mutations have disrupted the protein conformation, which in turn may impact the function of MCC protein.

CONCLUSIONThe compound heterozygous mutations of the MCCC1 gene may contribute to the 3-methylcrotonyl-CoA carboxylase deficiency manifested by the patient.

Amino Acid Sequence ; Base Sequence ; Carbon-Carbon Ligases ; chemistry ; deficiency ; genetics ; DNA Mutational Analysis ; Heterozygote ; Humans ; Infant, Newborn ; Male ; Models, Molecular ; Mutation ; Neonatal Screening ; methods ; Protein Conformation ; Sequence Homology, Amino Acid ; Urea Cycle Disorders, Inborn ; diagnosis ; genetics

Objective:To investigate the impact of different feedback methods on the training effects of laparoscopic simulation training learners in two-week training course.Methods:A total of 98 trainees receiving simulation laparoscopic training from August 2017 to April 2018 in The First Affiliated Hospital of Xinjiang Medical University were randomized into three groups, including Group 1 ( n=32), watching video tutorials only; Group 2 ( n=33), watching video tutorials and receiving immediate feedback; Group 3 ( n=33) watching video tutorials and receiving conclusive feedback. All the trainees received assessment before and after the training. The differences of assessment scores and operation time before and after the training were compared among the three groups. Chi-square test and t test were conducted by STATA 11.0. Results:The assessment scores of the three groups were significantly improved after the training than before ( P<0.05), and the operation time of the three groups were significantly shorter than before ( P<0.05). The assessment scores and operation time of Group 3 after the training were significantly better than the other two groups ( P<0.05), and the assessment scores of Group 3 were higher than those of the other two groups ( P<0.05), but there was no significant difference between the other two groups ( P >0.05). There were significant differences in training duration and repetition times among the three groups ( P<0.05). The training duration and repetition times of Group 3 were significantly less than those of the other two groups ( P<0.05). Conclusion:Compared with the other two groups, conclusive feedback can greatly accelerate learning and improve training efficiency in laparoscopic simulation training.