Objective To investigate the correlation of alkal ine phosphatase(ALP) and isozymes with renal disease.Methods In 1997-03~2003-05 the activity of ALP was determined b y biochemical automatic analyzer in Heilongjiang Province Hospital.The activity of ALP isozymes were determined by polyacrylamide disc gel electrophoresis and s canning measurement.Results The samples from patients with renal disease were divid ed into glomerular injury group,renal tubular injury group and severe widespread damage group based on the pathological changes.The activity of ALPs in urine i n the glomerular injury group and renal tubular injury group were significantly different from those in the control group (P0.05).Conclusion Isozymes of ALP in urine can be a useful marker for different renal segments injury.

BACKGROUND:Previous clinical fol ow-up study showed that disc degeneration of adjacent segment after anterior cervical discectomy and fusion was faster than that of artificial cervical disc replacement. Compared with the anterior cervical discectomy and fusion, artificial cervical disc replacement can maintain a good range of motion of replacement segment. Further investigation should be taken to compare the difference between stress and fusion after replacement. OBJECTIVE:To compare the adjacent level discs loads between artificial cervical disc replacement and anterior cervical discectomy and fusion. METHODS:A healthy 30-year-old male volunteer was scanned with CT at the artificial cervical intervertebral disc and anterior cervical plate. Three-dimensional images were reconstructed with Mimics 10.01 and Geomagic Studio.v11 software. Above three-dimensional data were input into the Abaqus6.9 finite element analysis software for meshing, assignment, and stress analysis. Finite element method was used to simulate the stress changes of the adjacent segments after artificial cervical disc replacement and anterior cervical discectomy and fusion. RESULTS AND CONCLUSION:(1) Under the same preload, during anteflexion, posterior extension, and lateroflexion, the disc stress at adjacent segment was significantly larger after anterior cervical discectomy and fusion than normal disc. Compared with normal persons, no significant difference was detected in stress of adjacent segment at anteflexion, posterior extension, and lateroflexion after artificial cervical disc replacement. (2) Compared with artificial cervical disc replacement group, the stress of adjacent segment increased 10.3%-51.6%in the anterior cervical discectomy and fusion group. (3) Finite element analysis showed that the stress was larger in the anterior cervical discectomy and fusion group than in the artificial cervical disc replacement group. With prolonged fol ow-up, compared with the conventional anterior decompression and fusion, artificial cervical disc replacement can better play its protective effect on the adjacent intervertebral disc.

To screen antitumor active compounds, drug-like or leading compounds from Chinese traditional and herbal drugs.

In order to clarify the chemical composition of Tongmai Keli, a HPLC fingerprint was established, and the 22 peaks were characterized by LC-DAD-MS. The herbal sources of these peaks were assigned. The results implied that genistin 8-C-glucoside, puerarin, daidzein 8-C-apiosyl (1, 6)-O-glucoside, daidzin, and salvianolic acid B were the main constituents of in Tongmai Keli. Ten batches of Tongmai Keli produced by different pharmaceutical companies were analyzed. Although different batches contained similar compounds, the contents of major compounds were significantly different. The method established in this study could be used for the quality control of Tongmai Keli.

Objective To explore the relationship of sevoflurane neurotoxicity with the expres-sion of Bid,Bim,Puma.Methods The cortical neuron from newborn SD rat (within 24 h)were see-ded in 6 or 12 well plate,and then randomly divided into 4 groups.Rat culture cortical neurons in vitro exposed in 1%,2%,4% and 0% sevoflurane for 6h were divided into A,B,C and D group. The effect of neuron viability,death and apoptosis were assessed using CCK-8,LDH and caspase-3 cleavage 1 7kDa expression assay.The expressions of Bid,Bim and Puma were assessed by western blot.Results Compared with group D, there were significant increases of neuron death and apoptosis,but a decrease of neuron viability,and upregulated expressions of Bid,Bim and Puma in group B (P <0.05);Compared with group B,Group C had increased death and apoptosis and de-creased viability of neurons,as well as upregulated expressions of Bid,Bim and Puma (P <0.05 ). Conclusion Along with the increase of the concentration,sevoflurane neurotoxicity was increased by upregulation of Bid,Bim,Puma expression.

Objective To evaluate the role of hypoxia inducible factor?1α ( HIF?1α) in reduction of apoptosis in cortical neurons of rats by sevoflurane preconditioning and the relationship with Slit2∕Robo signaling pathway. Methods Primary cortical neurons obtained from neonatal Sprague?Dawley rats were seeded in 6?well (2 ml∕well) or 96?well plates (100 μl∕well) at a density of 1×106∕ml, and randomly divided into 4 groups ( n=24 each ) using a random number table: control group ( C group ) , anoxia?reoxygenation ( A∕R ) group, sevoflurane preconditioning group ( SP group ) and HIF?1α inhibitor 2?methoxyestradiol group ( H group ) . The neurons were subjected to O2?glucose deprivation for 90 min followed by restoration of O2?glucose supply for 24 h. In group SP, the neurons were exposed to 2%sevoflurane for 2 h followed by 5 min washout with phosphate buffered saline for 3 times, and then sevoflurane preconditioning was performed immediately. In group H, sevoflurane preconditioning was performed with 5μmol∕L 2?methoxyestradiol at 72 h of incubation. The apoptosis in neurons was assessed using AnnexinⅤ?FITC∕PI assay, and apoptosis rate ( AR) was calculated. The amount of lactic dehydrogenase ( LDH) released was measured using colorimetric method. The expression of Slit2, Robo1 and Robo4 mRNA and protein was detected by fluorescent quantitative real?time polymerase chain reaction or Western blot. Results Compared with group C, the amount of LDH released and AR were significantly increased, Silt2 and Robo1 mRNA and protein expression was up?regulated, and no significant change was found in Robo4 mRNA and protein expression in A∕R group. Compared with group A∕R, the amount of LDH released and AR were significantly decreased in SP and H groups, and Silt2 and Robo1 mRNA and protein expression was up?regulated, and no significant change was found in Robo4 mRNA and protein expression in SP group. Compared with group SP, the amount of LDH released and AR were significantly increased, and Silt2 and Robo1 mRNA and protein expression was down?regulated in H group. Conclusion HIF?1α mediates reduction of apoptosis in cortical neurons of rats by sevoflurane preconditioning, and the mechanism is associated with Slit2∕Robo1 signaling pathway, but not with Slit2∕Robo4 signaling pathway.

Objective To evaluate the role of hypoxia inducible factor-1α (HIF-1α) in reduction of apoptosis in cortical neurons of rats by sevoflurane preconditioning.Methods Primary cortical neurons obtained from neonatal Sprague-Dawley rats were seeded in 6-well plates (2 ml/well),and randomly divided into 4 groups (n =15 each) using a random number table:control group (C group),anoxiareoxygenation (A/R) group,sevoflurane preconditioning group (SP group) and HIF-1α inhibitor 2-methoxyestradiol group (H group).The neurons were subjected to O2-glucose deprivation for 90 min followed by restoration of O2-glucose supply for 24 h.In group SP,the neurons were exposed to 2.0％ sevoflurane for 2 h followed by 5 min washout for 3 times,and then sevoflurane preconditioning was performed immediately.In group H,sevoflurane preconditioning was performed at 72 h of incubation with 5 μmol/L 2-methoxyestradiol.The apoptosis in neurons was assessed using Annexin V-FITC/PI assay,and apoptosis rate was calculated.The expression of Bid,Bim,Puma and activated caspase-3 in neurons was detected by Western blot.Results Compared with group C,apoptosis rate was significantly increased,and the expression of Bid,Bim,Puma and activated caspase-3 was up-regulated in group A/R.Compared with group A/R,apoptosis rate was significantly decreased,and the expression of Bid,Bim,Puma and activated caspase-3 was down-regulated in group SP.Compared with group SP,apoptosis rate was significantly increased,and the expression of Bid,Bim,Puma and activated caspase-3 was up-regulated in group H.Conclusion HIF-1α mediates reduction of apoptosis in rat neurons by sevoflurane preconditioning,and down-regulated expression of Bid,Bim,and Puma is involved in the mechanism.

Objective To investigate the clinical application effects of gabapentin in the treatment of recurrent trigeminal neuralgia.Methods 68 patients with recurrent trigeminal neuralgia were chosen as study subjects,and they were divided into control group and research group according to the digital table.The research group was treated with gabapentin,the control group was treated with carbamazepine.After treatment for 4 weeks,the clinical effects,life satisfactory index,pain,drug dosage and adverse reaction between the two group were compared.Results Each group had 32 patients completed the study.The total effective rate of the research group was higher than that of the control group(68.75％ vs.59.37％),the difference was not statistically significant(x2 =0.611,P ＜0.05).The average gabapentin dosage in the research group was higher than the average carbamazepine dosage in the control group,the difference was statistically significant (t =11.278,P ＜ 0.05).Before treatment,the VAS scores between the two groups had no statistically significant difference (t =0.153,P ＞ 0.05).At 7 d after treatment,the VAS scores in the research group was lower than that in the control group [(4.09 ± 0.83) points vs.(4.63 ± 0.79) points],the difference was statistically significant (t =2.666,P ＜ 0.05).At 14 d and 28 d after treatment,the VAS scores between the two groups had no statistically significant difference (t =1.527,0.352,all P ＞ 0.05).Before treatment and 7 d after treatment,the life satisfaction index B (LSI-B) scores between the two groups had no statistically significant difference(t =0.049,0.224,all P ＞ 0.05).At 14 d and 28 d after treatment,LSI-B scores in the two groups were both increased,which in the research group was higher than taht in the control group[14 d:(15.09 ± 3.68) points vs.(12.91 ± 3.45) points,28 d:(16.48 ± 3.43) points vs.(13.35 ± 3.14) points],the differences were statistically different(t =2.445,3.808,all P ＜ 0.05).The incidence rate of adverse reaction of the research group was lower than that of the control group(15.63％ vs.37.50％),the difference was statistically significant (x2 =3.925,P ＜ 0.05).Conclusion Gabapentin has similar treatment effects in recurrent trigeminal neuralgia as carbamazepin,and gabapentin has better improvement in patients'life quality,and with better safety.

OBJECTIVETo identify the mutation of the GABA(A)-receptor gamma 2 subunit gene (GABRG2) in a Chinese family with generalized epilepsy with febrile seizures plus (GEFS+ ) and analyze the genotype-phenotype correlations and its inheritance.

METHODSGenomic DNA was extracted from peripheral blood lymphocytes of the proband and other available members in the GEFS+ family. The coding regions and flanking intronic regions of the GABRG2 gene were screened for mutations using polymerase chain reaction (PCR) and direct DNA sequencing.

RESULTSThere were 7 affected members in the three-generation family, in which one with febrile seizures (FS) and six with febrile seizures plus (FS+ ). This family was consistent with the diagnostic criteria of GEFS+ . The nonsense mutation c.1287G to A (p.W390X) in the GABRG2 gene was initially identified in the proband. Seven affected members (6 FS+ and 1 FS) and one unaffected member carried the mutation. The nonsense mutation c.1287G to A/p.W390X in the GABRG2 gene was co-segregated with the GEFS+ family. The penetrance rate was about 87.5%(7/8).

CONCLUSIONThis GEFS+ family was consistent with autosomal dominant inheritance with incomplete penetrance. GABRG2 mutation is also a disease-causing mutation in Chinese GEFS+ patients. The p.W390X mutation has not been reported previously.

Amino Acid Sequence ; Animals ; Asian Continental Ancestry Group ; genetics ; Base Sequence ; Child ; Conserved Sequence ; DNA Mutational Analysis ; Epilepsy, Generalized ; complications ; genetics ; Exons ; genetics ; Genotype ; Humans ; Male ; Molecular Sequence Data ; Pedigree ; Phenotype ; Receptors, GABA-A ; chemistry ; genetics ; Seizures, Febrile ; complications ; genetics

Objective: To investigate the clinical features, laboratory characteristics and genetic diagnosis of Kabuki syndrome (KS). Methods: Between September 2014 and September 2016, seven children with clinically diagnosed KS from the neurology department, Beijing Children Hospital, Capital Medical University were included in this study. Three of them were male and 4 were female aged from 19 days to 6 years and 4 months with a median age of 3 years and 1 month. The clinical features, laboratory and imaging materials, gene tests were analyzed prospectively. Results: Clinical manifestation: cephalofacial anomaly: all seven cases had unusual facies presented as long palpebral fissures, eversion of the lateral third of lower eyelids, arched eyebrow with brow sparse, epicanthus, orbital hypertelorism, short columella with broad and depressed nasal tip; six cases presented with palatal arch deformity; four cases presented with ptosis; three cases presented with dental abnormalities and hearing impairment respectively; two cases presented with strabismus and earlap malformation respectively; one case presented with amblyopia. Six cases presented with skeletal anomalies. Six cases presented with dermatoglyphic anomalies. All cases presented with mild to moderate mental retardation. Three cases presented with short stature. Four cases presented with cardiac abnormalities. Three cases presented with epileptic seizures. Others: three cases presented with dystonia and neonatal hyperbilirubinemia respectively; two cases presented with feeding problem and hypoglycemia respectively; one case presented with micropenis and fetal finger pads respectively. All seven patients received magnetic resonance imaging (MRI) tests, and none demonstrated an abnormal finding. Five patients received electroencephalogram (EEG) tests, and three of them presented with seizures and EEG abnormalities. Five patients received genetic testing and all presented with KMT2D heterozygous mutations which were new mutations proved by parents validation (three cases were nonsense mutations, one was frameshift mutation, one was missense mutation). All patients received rehabilitation training and symptomatic treatments. Three patients presented with epileptic seizures received antiepileptic therapy. At a median follow-up of 11 months (from 4 months to 2 years), one patient died, one lost to follow-up and five had improved intellectual and physical development. Epileptic seizures were controlled or reduced significantly in three patients presented with epileptic seizures. Conclusions KS is a multisystem disease with complicated manifestations, which needs a combination of various diagnosis and treatments. Genetic testing can help determine the diagnosis. Unusual facies and mental retardation are the main clinical features and diagnostic clue. It is important to improve prognosis through increasing the knowledge of KS, early diagnosis, and treatment.