Aim To explore the possible protective effect of ginsenoside Rg1 on oligomeric Aβ1-42 induced apoptosis and its possible mechanism. Methods The damage was induced by oligomeric Aβ1-42 in primary cortical neurons. Cells were incubated in the absence or presence of Aβ, or co-incubated in sp600125 with Aβ, or pre-incubated in ginsenoside Rg1 then co-incu-bated in Aβ. The p-JNK, JNK, caspase-3 activity and TUNEL-positive cells were detected. Results In Aβ1-42 treated group, the ratio of p-JNK/JNK level was increased more than that in non-treated group for 15 min. However, in neurons preincubated with (2. 5, 5, 10 μmol·L-1 ) ginsenoside Rg1 and then co-incuba-ted with 5 μmol·L-1 oligomeric Aβ1-42 , the p-JNK/JNK ratio, caspase-3 activity and TUNEL positive neu-rons were significantly decreased compared with those of Aβ1-42 treated group. Conclusion Ginsenoside Rg1 can attenuate the oligomeric Aβ1-42-induced apop-tosis by JNK pathway.

Objective To systematically assess the efficacy of memantine on moderate to severe Alzheimer's disease (AD).Methods With the evaluation method of the Cochrane system,searches were made in the Cochrane Library,MEDLINE,Embase,Forest Laboratories,CNKI,Wanfang Data,and VIP Data up to February 2013 for double blind,randomized,and placebo-controlled trials (RCTs) evaluating the efficacy of memantine for moderate to severe AD.A meta-analysis of included clinical trials was conducted using the Revman 5.2 software to evaluate the efficacy of memantine on overall clinical status,cognitive function activities of daily living,and behavioral and psychological disturbances.Results A total of 8 RCTs were included (2 527 patients with moderate to severe AD).Results of the meta-analysis showed that,for patients with moderate to severe AD,memantine had better efficacy than placebo on overall clinical status,cognitive function,and activities of daily living (MD=-0.24,95％CI:0.340.15;SMD=-0.26,95％CI:-0.340.18;SMD=-0.13,95％CI:-0.21-0.05),but there was no significant difference in efficacy on behavioral and psychological function between memantine and placebo (P =0.08).Analysis of subgroups showed that memantine had better efficacy than placebo on cognitive function in moderate AD patients (SMD =-0.22,95％CI:-0.37 0.06) and on overall clinical status,cognitive function,and activities of daily living in severe AD patients (MD-0.29,95％CI:-0.40 0.18;SMD=-0.31,95％CI:0.46-0.15;SMD=-0.16,95％ CI:-0.25 0.06;MD=-3.13,95％ CI:-4.88-1.39;respectively).Conclusions Memantine has efficacy on overall clinical status,cognitive function and activities of daily living in patients with moderate to severe AD,especially in patients with severe AD.

Objective To investigate the possible effect of ginsenoside Rg1 and oligo Aβ1-42 on PKA/CREB pathway.Methods The damage was induced by oligomeric Aβ1-42 in primary cortical neuron.Neurons were incubated with or without glutamate,or incubated in Aβ,or pre-incubated in Rg1 and then co-incubated in Aβ.The proteins of p-CREB,t-CREB,PKA Ⅱ α and BDNF were detected by Western blot.Results After the treatment with Oligo Aβ1-42 for 2 h,the p-CREB/t-CREB level induced by glutamate was obviously lower (P＜ 0.001).However,in neurons pre incubatedwith 2.5,5.0,10.0 μmol/L of ginsenoside Rg1 and then co-incubated with 5μmol/L of oligo Aβ1-42,the p-CREB/t-CREB induced by glutamate was significantly increased as compared with that of Aβ1-42 group (P＜0.05).Upon Aβ1-42 exposure for 2 h,cortical neurons showed a statistically significant increase in PKA Ⅱ α as compared to the control group (P ＜ 0.001).Pre-treatmentwith varying doses of ginsenoside Rg1 (2.5,5,10μmol/L) showed a decrease in PKA Ⅱ α as compared to neurons treated with Aβ1-42 alone for 2 h (P＜0.001).Furthermore,BDNF level significantly increased in Rgl-pretreated cells as compared to cells treated with Aβ1-42 alone for 24h (P＜0.05).Conclusions Ginsenoside Rg1 attenuates the oligo Aβ142 inhibition of PKA/CREB pathway.

Objective To detect the B cell epitopes of human MCHR1 recognized by serum autoantibodies in patients with vitiligo. Methods The DNA encoding antigen fragments of MCHR1 from amino acid (aa) 1 to 94 were amplified from pcDNA3/MCHR1 by PCR and inserted into the vector pGEX-4T-1. After identification, the recombinant plasmid pGEX-4T-1/MCHR1 was transfected into E. coli for fusion protein production which was purified by GST agarose affinity chromatography later. The sera from 38 vitiligo patients were examined for MCHR1 antibodies by enzyme-linked immunoabsorbent assay. Results Amino acids (aa) 1 to 94 of MCHR1 which most possibly included in B cell epitopes were selected to express. The recombinant plasmid pGEX-4T /MCHR1 was confirmed by sequence analysis. SDS-PAGE showed that a Mr 37 kD fusion protein was expressed by E.coli. Of the sera from vitiligo patients examined by ELISA, 5 of 38 were considered positive for MCHR1 antibody. Conclusion There are B cell epitopes in amino acids(aa) 1 to 94 of MCHR1 which can be recognized by antibodies from vitiligo patients.

Many pathogenic genes have been identified in early-onset Parkinson′s disease, but the early-onset Parkinson′s disease with 22q11.2 deletion has not been reported in Chinese. A case of early-onset Parkinson′s disease with 22q11.2 deletion was confirmed by whole-exome sequencing-based copy number variation detection in Fujian Medical University Union Hospital. This article reports its clinical characteristics and discusses its pathogenesis, diagnosis and treatment management.

Objective To investigate the application value of fetal umbilical cord blood hemoglobin analysis in the prenatal diag ‐nosis of thalassemia .Methods 113 couples were the carriers of the same gene type of thalassemia ,moreover the females were in the pregnant period of 24 - 30 pregnant weeks and performed the prenatal diagnosis .The fetal umbilical cord blood hemoglobin compo‐nents were analyzed by the full automatic capillary electrophoresis technique ,meanwhile the fetal thalassemia gene was detected .Re‐sults Among 113 fetuses ,the umbilical cord blood HbBart′s level in 11 cases of severe α thalassemia was 85 .0% - 95 .5% ,which in 9 cases of intermediate type α thalassemia was 22 .0% - 39 .5% ;the umbilical cord blood HbA level in 6 cases of severe β thalas‐semia was 0% - 0 .4% ,which in 17 cases of light type β thalassemia was 2 .1% - 12 .5% .Conclusion The fetal umbilical cord blood hemoglobin analysis could be used for rapid prenatal diagnosis of severe α ,β and intermediate type α thalassemia ,which can serve as a supplementary method for the prenatal diagnosis of thalassemia .

Objective To discuss the clinical application of percutaneous radiologic gastrostomy (PRG) in treating dysphagia associated with amyotrophic lateral sclerosis (ALS),and to evaluate its safety and improvement effect on patient's nutritional status in ALS patients with pulmonary insufficiency.Methods The clinical data of 51 ALS patients who received PRG were retrospectively analyzed.The success rate of surgery and postoperative complications were recorded.All patients were regularly followed up,and the longterm complications as well as the one-,3-and 6-month mortality rates after the surgery were documented.The improvement of patient's nutritional status was evaluated.Results PRG was successfully accomplished in all 51 patients,the technical success rate was 100％.Mild postoperative complications occurred in 7 patients (13.73％) and severe massive hemorrhage in one patient (2.0％).After PRG,no signs or symptoms of impaired respiratory function were observed.No death occurred in one month and in 3 months after PRG.Six months after PRG,three patients died(6.8 ％,3/44).One month after PRG,31 patients had an increase in body weight of more than 1 kg,and the mean BMI was increased from preoperative t8.60±2.14 to postoperative 19.27±1.81 (one month after PRG),19.17±1.93 (3 month after PRG) and 18.89±2.33 (6 month after PRG).Conclusion For the performance of PRG no gastroscopy or anesthesia is needed,thus,the risk of aspiration asphyxia can be reduced in ALS patients complicated by pulmonary insufficiency and the success rate as well as the safety can be improved.Therefore,this technique is an effective means to ensure that the ALS patients with pulmonary insufficiency can get adequate energy intake to improve their nutritional status.

OBJECTIVETo assess the value of suspension array technology (SAT) for the genetic diagnosis of non-syndromic hearing loss (NSHL).

METHODSThree hundred and sixteen NSHL patients were simultaneously tested by SAT targeting 20 hotspot mutations within 4 common pathologic genes among the Chinese population as well as 9 deafness gene mutation detection kits. The results of the two approaches were validated by Sanger sequencing.

RESULTSAmong the 316 patients, 161 were found to carry a mutation by SAT. Sixty five patients have carried homozygous or compound heterozygous mutations, which yielded a mutation rate of 50.9% and a diagnostic rate of 21.2%. Seventy three patients were found to be carriers by the 9 deafness gene mutation detection kits. These included 34 patients carrying homozygous or compound heterozygous mutations, which yielded a mutation rate of 23.1% and diagnostic rate of 11.4%. Above results were consistent with those of Sanger sequencing.

CONCLUSIONSAT is a simple, rapid and accurate method featuring high detection rate for common mutations related to deafness among the Chinese population and has provided an effective means of genetic testing for hereditary deafness.

OBJECTIVETo establish an accurate, fast and simple screening method for AZF microdeletions using capillary technology and use it for clinical testing.

METHODSFor each pair of primers, the 5' end of either forward or reverse primer was labeled with a FAM, JOE or TAMRA fluorescence dyes to establish multiplex quantitative fluorescence PCR systems for the establishment of a screening method of Y chromosome AZF microdeletions by capillary technology. The detection of Y chromosome AZF microdeletion was carried out on 725 cases of non-obstructive azoospermia, oligospermia or asthenospermia.

RESULTSA screening method for Y chromosome AZF microdeletions using capillary technology was established. Thirty eight cases of AZF microdeletions were found among 725 cases of non-obstructive azoospermia, oligospermia or asthenospermia, which gave a deletion rate of 5.24%. Y chromosomal microdeletions were found in 8.62% of the azoospermia group, 6.75% of the oligozoospermic group, and 2.23% of the asthenospermia group.

CONCLUSIONAn accurate, fast and simple screening method of Y chromosome AZF microdeletions by capillary technology has been established, which may have an important clinical value.

Adult ; Azoospermia ; genetics ; Capillary Action ; Chromosome Deletion ; Chromosomes, Human, Y ; Humans ; Infertility, Male ; Male ; Multiplex Polymerase Chain Reaction ; Sex Chromosome Aberrations ; Sex Chromosome Disorders of Sex Development ; diagnosis

Objective To review the clinical-pathological features, the tendency of incidence over 20 years, the predisposing factors, and the differences between the cases of cutaneous malignant melanoma from two hospitals. Methods A collection of 305 cases diagnosed as cutaneous malignant melanoma, among which 185 cases had complete clinical-pathological data, during 1981-2000 was analyzed. Results Acral malignant melanoma accounted for 63.3%, and the cases associated with congenital small nevi at the primary site accounted for 15.8% of 305 patients. During the period 1981-1990 and 1991-2000, cutaneous malignant melanoma constituted 0.053% and 0.094%, respectively, of all diagnoses with pathological sections, with an growth rate of 3.9% yearly. There was a tendency of the increased lesions located on face and neck, and decreased lesions on acra, over 20 years. Conclusion A rise of diagnosis of cutaneous malignant melanoma has been noticed from two hospitals over 20 years. Acra, especially planta, is the predominant anatomical site of cutaneous malignant melanoma.