ObjectiveTo investigate the relationship between the polymorphisms of the promoter of a disintegrin and metalloproteinase 10(ADAM10) gene and sporadic Alzheimer's disease (SAD).Methods The promoter of ADAM10 gene in 10 controls and 10 SAD patients was sequenced.Three variations were found,then these variations in 298 SAD patients (SAD group) and 315 healthy controls (control group)were genotyped by using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP).ResultsThree polymorphisms were found in the promoter of ADAM10 gene: -279G/A (rs653765),- 630G/T( rs514049 ) and - 921GAGA/- ( rs33926666 ).For - 921GAGA/-,there were significant differences in genotype ( GAGA/GAGA:138 (46.3％ ),GAGA/-:155(52.0％),-/-:5(1.7％))and allele frequencies (GAGA:431 (73.6％),-:165 (27.7％) ) between SAD and control (genotype:x2 =34.130,P =0.000; allele:x2 =25.972,P =0.000). For - 279G/A,there were significant differences in genotype and allele frequencies between SAD and control in the subjects without ApoEε4 allele (genotype:x2 =8.734,P=0.013; allele:x2 =5.129,P=0.024). -279G and -921GAGA were relatively protective allele types for SAD,and they were not in linkage disequilibrium.ConclusionThe polymorphisms - 279G/A and - 921GAGA/- of ADAM10 are associated with SAD.Allele G or genotype G/G of -279G/A and the GAGA/GAGA genotype or the GAGA allele of -921GAGA/- might have a protective effect on SAD.

Objective To determine the risk factors and clinical features of mild vascular cognitive impairment due to subcortical small vessel disease (mVCI-SSVD).Methods Detailed demographic data,vascular risk factors, past and present history were collected and carefully neurological examination, National Institutes of Health Stroke Scale (NIHSS), as well as Hachinski ischemic score (HIS) were performed on 56 mVCI-SSVD patients.Further, the demographic data and vascular risk factors of mVCI-SSVD patients were compared with those of 80 normal control subjects.Results Proportions of smoking (39.3% (22/56)), hypertension (67.9% (38/56)), and diabetes (25.0% (14/56)) were higher in the patient group than in the normal control group (21.3% (17/80) , 47.5% (39/80), 11.3% (9/80)).Odds ratio (2.32(95% CI 1.05-5.13),2.15 (95% CI 1.02-4.54),2.26(95% CI 0.86-5.92)) between the two groups was statistically significant (P value: 0.039, 0.045, 0.047).There was no difference in terms of hyperlipidemia and cardiac disease between groups.Fifty percent (28/56) mVCI-SSVD patients had a clear stroke history.Twenty-six point eight percent (15/56) patients developed the cognitive impairment with an acute onset.Neurological focal signs presented in 20 patients (35.7%).Twenty four (42.9%) patients with HIS ≤ 4 points.Thirty eight cases (67.9%) scored 0 on NIHSS.Conclusions Current study suggested that smoking, hypertension, and diabetes may be risk factors for mVCI-SSVD.While hyperlipidemia and cardiac disease do not increase the risk of mVCI-SSVD.Unlike mVCI caused by large vessel disease, about half mVCI-SSVD patients lack of stroke history.Most patients show a relatively insidious onset and free of significant neurological focal signs.

Objective To investigate the mechanisms of decreasing insulin degrading enzyme (IDE) level by mutation V97L in the gene presenilin 1 (PS-1).Methods Transcription factor GATA binding protein 3 (GATA-3) activity was assessed by protein/DNA array and verified by Western blot in SH-SY5Y cells transfected by PS-1 mutation V97L.Results Protein/DNA array and Western blot revealed that there was increased transcript factor activity (5.5 times high) and protein level of GATA-3 in V97L-PS-1 transfected SH-SY5Y cells.Transcription factor GATA-3 can bind to the IDE promoter and negatively control the IDE transcription level.Conclusion PS-1 mutation V97L may regulate the transcription of IDE via GATA-3, and subsequently involve in deposition of Aβ42 and development of Alzheimer's disease.

ObjectiveTo explore the effect of community based rehabilitation on chronic schizophrenia. Methods60 patients of chronic schizophrenia were randomly divided into the community based rehabilitation group (the study group) and the inpatients group (the control group). The study used prospective design for 1 year with brief psychiatric rating scale (BPRS),nurses' observation scale for inpatients evaluation (NOSIE) and social disability screening schedule (SDSS).ResultsCompared with the control group at the end of 6 month and 1 year, scores of BPRS, NOSIE and SDSS in the study group were significantly different (P<0.05-P<0.001). The relapse rate of the study group (0%) also lowered than that of the control group( 20%).ConclusionsCommunity based rehabilitation therapy can control the chronic schizophrenia effectively. It also promotes the life quality and social function of patients, and lowers the relapse rate significantly. It is an important rehabilitation method for chronic schizophrenia.

Objective To investigate the clinical features,polysomnography,imaging examination,genetic analysis and laboratory examination of eight patients with familial fatal insomnia (FFI).Methods The clinical data,neuropsychological examination,results of cerebrospinal fluid analysis,imaging examination and polysomnography of eight patients with FFI in Xuanwu Hospital,Capital Medical University from 2009 to 2018 were retrospectively analyzed and summarized.Results Among the eight FFI patients,there were 3 males and 5 females,the onset age being (49.8+14.3) years (19 to 64 years) and the course of disease being eight to 18 months.D178N mutation in the PRNP gene of chromosome 20 and 129 amino acid polymorphisms of M/M were found in genetic examination in all the eight patients,of which five patients had family history.All the patients had sleep disorders,sleep-related involuntary movement,sleep-related dyspnea,laryngeal stridor.All the patients showed rapid progressive dementia with or without symptoms or signs of psychosis,ataxia,pyramidal and extrapyramidal.All the eight patients had progressive sympathetic symptoms,including hypertension,sweating,tachycardia,irregular breathing,and dysarthria.Cerebrospinal fluid 14-3-3 protein was found positive in one patient,and negative in seven patients.Electroencephalograph showed diffuse slow wave and non periodic synchronous discharge.Single-photon emission computed tomography or 18F fluorodeoxyglucose positron emission tomography showed decreased thalamic glucose metabolism in three patients.Seven patients showed decreased total sleep time,sleep awakening cycle disorder,especially the reduction or loss of rapid eye movement,laryngeal stridor and involuntary movement in polysomnography.Conclusions FFI is characterized by sleep disorder,sleep-related involuntary movement,dyspnea,laryngosis,rapid progressive dementia and sympathetic symptoms.The family history,polysomnography and positron emission tomography are helpful for the diagnosis of FFI.PRNP gene detection can confirm the diagnosis of FFI.

Sarcopenia etiology is diverse and the pathogenesis is complex.It is closely related to limited activity, malnutrition and a variety of clinical diseases, which seriously affects the quality of life in the elderly and has become a global common health problem.This review focuses on the literature of non-drug interventions for sarcopenia in the past five years, focusing on the relationship of multimodal exercise, intestinal flora, parenteral nutrition and comprehensive intervention with sarcopenia, in order to provide a new basis for formulating scientific and effective non-drug intervention for sarcopenia.

Inherent complexity of plant metabolites necessitates the use of multi-dimensional information to accomplish comprehensive profiling and confirmative identification. A dimension-enhanced strategy, by offline two-dimensional liquid chromatography/ion mobility-quadrupole time-of-flight mass spec-trometry (2D-LC/IM-QTOF-MS) enabling four-dimensional separations (2D-LC, IM, and MS), is proposed. In combination with in-house database-driven automated peak annotation, this strategy was utilized to characterize ginsenosides simultaneously from white ginseng (WG) and red ginseng (RG). An offline 2D-LC system configuring an Xbridge Amide column and an HSS T3 column showed orthogonality 0.76 in the resolution of ginsenosides. Ginsenoside analysis was performed by data-independent high-definition MSE (HDMSE) in the negative ESI mode on a Vion TM IMS-QTOF hybrid high-resolution mass spectrometer, which could better resolve ginsenosides than MSE and directly give the CCS information. An in-house ginsenoside database recording 504 known ginsenosides and 58 reference compounds, was estab-lished to assist the identification of ginsenosides. Streamlined workflows, by applying UNIFI TM to auto-matedly annotate the HDMSE data, were proposed. We could separate and characterize 323 ginsenosides (including 286 from WG and 306 from RG), and 125 thereof may have not been isolated from the Panax genus. The established 2D-LC/IM-QTOF-HDMSE approach could also act as a magnifier to probe differ-entiated components between WG and RG. Compared with conventional approaches, this dimension-enhanced strategy could better resolve coeluting herbal components and more efficiently, more reli-ably identify the multicomponents, which, we believe, offers more possibilities for the systematic exposure and confirmative identification of plant metabolites.