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171.
Genetic mapping of a major susceptibility locus for juvenile myoclonic epilepsy on chromosome 15q 总被引:5,自引:0,他引:5
Elmslie FV; Rees M; Williamson MP; Kerr M; Kjeldsen MJ; Pang KA; Sundqvist A; Friis ML; Chadwick D; Richens A; Covanis A; Santos M; Arzimanoglou A; Panayiotopoulos CP; Curtis D; Whitehouse WP; Gardiner RM 《Human molecular genetics》1997,6(8):1329-1334
The epilepsies are a group of disorders characterised by recurrent seizures
caused by episodes of abnormal neuronal hyperexcitability involving the
brain. Up to 60 million people are affected worldwide and genetic factors
may contribute to the aetiology in up to 40% of patients. The most common
human genetic epilepsies display a complex pattern of inheritance. These
are categorised as idiopathic in the absence of detectable structural or
metabolic abnormalities. Juvenile myoclonic epilepsy (JME) is a distinctive
and common variety of familial idiopathic generalised epilepsy (IGE) with a
prevalence of 0.5- 1.0 per 1000 and a ratio of sibling risk to population
prevalence (lambda(s)) of 42. The molecular genetic basis of these familial
idiopathic epilepsies is entirely unknown, but a mutation in the gene
CHRNA4, encoding the alpha4 subunit of the neuronal nicotinic acetylcholine
receptor (nAChR), was recently identified in a rare Mendelian variety of
idiopathic epilepsy. Chromosomal regions harbouring genes for nAChR
subunits were therefore tested for linkage to the JME trait in 34
pedigrees. Significant evidence for linkage with heterogeneity was found to
polymorphic loci encompassing the region in which the gene encoding the
alpha7 subunit of nAChR (CHRNA7) maps on chromosome 15q14 (HLOD = 4.4 at
alpha = 0.65; Z(all) = 2.94, P = 0.0005). This major locus contributes to
genetic susceptibility to JME in a majority of the families studied.
相似文献
172.
Purification and characterization of 26S proteasomes from human and mouse spermatozoa 总被引:4,自引:2,他引:4
Tipler CP; Hutchon SP; Hendil K; Tanaka K; Fishel S; Mayer RJ 《Molecular human reproduction》1997,3(12):1053-1060
We purified by fractionation on 10-40% glycerol gradients, 26S proteasomes
from normal human spermatozoa. These proteasomes, which participate in the
ATP-dependent degradation of ubiquitinated proteins, share a similar
sedimentation coefficient to those purified from other human tissues.
Fluorogenic peptide assays reveal they have chymotrypsin, trypsin and
peptidyl-glutamyl-like peptide hydrolysing activities; the chymotrypsin
activity is ablated by the specific 26S proteasome inhibitor MG132.
Confirmation that these large proteases are 26S proteasomes is provided by
detection of the 20S proteasome subunits HC2, XAPC7, RN3 and Z and
regulatory ATPases MSS1, TBP1, SUG1 and SUG2 by Western analyses with
monoclonal antisera. These antigens are found only in the gradient
fractions enriched in proteolytic activities. We have also shown that,
although mature spermatozoa from mice have considerably reduced amounts of
a ubiquitin-conjugating enzyme (E2) and ubiquitin-protein conjugates in
comparison with less mature germ cells, they retain relatively high values
of 26S proteasome activity. This suggests that proteasomes may have further
roles to play in normal sperm physiology.
相似文献
173.
V García‐García A Bascones‐Martínez AI García‐Kass CP Martinelli‐Kläy R Küffer E Álvarez‐Fernández T Lombardi 《Oral diseases》2013,19(1):65-72
Oral Diseases (2012) 19 , 65–72 Objective: Heat‐shock protein 27 (hsp27) has been implicated in several biological events. In this experimental study, we aimed at analysing, for the first time, the expression of hsp27 in the diverse stages of oral lichen planus (OLP) lesions. Materials and methods: Thirty‐six biopsy specimens of patients with OLP and 10 of healthy patients were selected. OLP specimens were divided into three groups: G1 – moderate or mildly active OLP; G2 – active or moderately active atrophic OLP; G3 – mild or inactive atrophic OLP. Hsp27 expression was analysed by immunohistochemistry (staining intensity and percentage of stained cells), and results of staining were compared between the different groups. Gender, age and anatomical location were also studied. Results: In the basal layer, an increase of hsp27 expression in both G2 and G3 was observed when compared to G1 and control group. In contrast, a decrease of hsp27 expression in the superficial layer was observed in all groups when compared to control group. Conclusion: The increased expression of Hsp27 in the basal layer observed during the OLP evolution and the less staining in the superficial layers in all cases of OLP suggest that hsp27 may have a role in the OLP pathogenesis. 相似文献
174.
Omuro A Chan TA Abrey LE Khasraw M Reiner AS Kaley TJ Deangelis LM Lassman AB Nolan CP Gavrilovic IT Hormigo A Salvant C Heguy A Kaufman A Huse JT Panageas KS Hottinger AF Mellinghoff I 《中国神经肿瘤杂志》2013,(2):131
BACKGROUND:In this phase II trial,we investigated the efficacy of a metronomic temozolomide schedule in the treatment of recurrent malignant gliomas(MGs).METHODS:Eligible patients received daily temozolomide(50 mg/m2)continuously until progression.The primary endpoint was progression-free survival rate at 6 months in the glioblastoma cohort(N=37).In an exploratory analysis,10 additional recurrent grade III MG patients were enrolled.Correlative studies included evaluation of 76 frequent mutations in glioblastoma(iPLEX assay,Sequenom)aiming at establishing the frequency of potentially"drugable"mutations in patients entering 相似文献
175.
Edílson Damke Joyce K Tsuzuki Diógenes AG Cortez Izabel CP Ferreira Thâmara A Bertoni Márcia R Batista Lucélia Donati Terezinha IE Svidzinski Márcia EL Consolaro 《BMC complementary and alternative medicine》2011,11(1):35
Background
Study of in vivo antifungal activity of the hydroalcoholic extract (HE) and n-BuOH extract (BUTE) of Sapindus saponaria against azole-susceptible and -resistant human vaginal Candida spp. 相似文献176.
177.
CP Charalambous C Mosey E Johnstone P Akimau TK Gullett I Siddique RA Wilkes 《Annals of the Royal College of Surgeons of England》2009,91(7):596-598
INTRODUCTION
The aim of this study was to compare the effectiveness of different ways of referring patients to an osteoporosis assessment service at an orthopaedic fracture clinic of a hospital in the UK.PATIENTS AND METHODS
Three methods of identifying and referring to an osteoporosis assessment service were evaluated.RESULTS
Relying on doctors for such a referral gave a catchment rate of only 1.6%. Involving patients themselves, asking them to self-refer, increased the catchment rate to 63% (P < 0.0001). Having a specialist osteoporosis and fracture liaison nurse present in clinic and reviewing the notes of patients checking in, to see if they match criteria for osteoporosis assessment, further increased catchment to 77% (P = 0.036).CONCLUSIONS
Simply having an osteoporosis assessment service and strict criteria to identify which patients should be referred to such a service will not necessarily increase catchment rate for osteoporosis patients. A nurse physically present in the clinic provided the best result, and supports the need of investing in an osteoporosis and fracture liaison nurse. 相似文献178.
Background
The advent of standardized classification and assessment of psychiatric disorders, and considerable joint efforts among many countries has led to the reporting of international rates of psychiatric disorders, and inevitably, their comparison between different racial groups.Results
In neurologic diseases with defined genetic etiologies, the same genetic cause has different phenotypes in different racial groups.Conclusion
We suggest that genetic differences between races mean that diagnostic criteria refined in one racial group, may not be directly and simply applicable to other racial groups and thus more effort needs to be expended on defining diseases in other groups. Cross-racial confounds (in addition to cultural confounds) make the interpretation of rates in different groups even more hazardous than seems to have been appreciated. 相似文献179.
The expression of the anti-apoptotic molecules Bcl-2 and transforming growth factor-beta 1 is known to confer protective effects on the cerebral ischemia-reperfusion injury.The current study investigated the expression levels of Bcl-2 and transforming growth factor-beta 1 in response to multiple pre-ischemia electro-acupuncture at acupoints Zusanli(ST36)and Fengchi(GB20) stimulation.Rats were divided into five groups:uninjured,control,non-acupoint,GB20 and ST36. Rats in the non-acupoint,GB20 and ST36 groups received 30 minutes(3 times or 18 times)of electro-acupuncture stimulation before experimental cerebral ischemia was induced.Bcl-2 and transforming growth factor-beta 1 were found to be significantly increased in the ST36 groups with either 3 or 18 electro-acupuncture treatments(P<0.05).The production was higher with 18 electro-acupuncture treatments in the ST36 groups(P<0.05).In the GB20 groups,significant increase was only observed in transforming growth factor-beta 1 with 18 electro-acupuncture treatments(P<0.05).No significant elevation of the level of transforming growth factor-beta 1 was observed in the non-acupoint groups.However,the production of Bcl-2 increased with 18 treatments in the non-acupoint groups(P<0.05).The data suggest that multiple pre-ischemia electro-acupuncture at ST36 was effective in conferring neuroprotective effect on the brain by means of upregulation of Bcl-2 and transforming growth factor-beta 1 and the effect was increase with the number of treatment. 相似文献
180.
Treatment of obstructive sleep apnea syndrome with a Kampo-formula, San''o-shashin-to: A case report
Akito Hisanaga MD Osamu Saitoh MD PhD Hidemichi Fukuda MD PhD Kenzo Kurokawa MD Akihito Okabe MD Hiroyuki Tachibana MD Hirofumi Hagino P hD Tatsuo Mita MD Ikiko Yamashita CP Manabu Tsutsumi MD PhD Masayoshi Kurachi MD PhD & Takashi Itoh MD PhD 《Psychiatry and clinical neurosciences》1999,53(2):303-305
The following describes a 76-year-old male with obstructive sleep apnea syndrome successfully treated with a Kampo-formula, San'o-shashin-to (Formula medicamentorum tres ad dispellendi cordis). Polysomnography, performed before and after administration of San'o-shashin-to, revealed that the apnea index decreased from 11.1 events/hour to 4.1 events/hour, and that the apnea plus hypopnea index decreased from 18.4 events/hour to 10.7 events/hour. The patient was normo-weight (body mass index: 20.4 kg/m2), and events of sleep apnea and hypopnea were mostly noted during a non-rapid eye movement sleep. It is possible that San'o-shashin-to has some alleviating effects on the upper airway resistance during sleep. 相似文献