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Chambers ; J. S. Kooner ; D. P. Strachan ; H. Campbell ; J. N. Hirschhorn ; M. Perola ; O. Polasek ; J. F. Wilson
    Nature Publishing Group (NPG)
    Published 2015
    Staff View
    Publication Date:
    2015-07-02
    Publisher:
    Nature Publishing Group (NPG)
    Print ISSN:
    0028-0836
    Electronic ISSN:
    1476-4687
    Topics:
    Biology
    Chemistry and Pharmacology
    Medicine
    Natural Sciences in General
    Physics
    Keywords:
    Biological Evolution ; Blood Pressure/genetics ; Body Height/*genetics ; Cholesterol, LDL/genetics ; *Cognition ; Cohort Studies ; Educational Status ; Female ; Forced Expiratory Volume/genetics ; Genome, Human/genetics ; *Homozygote ; Humans ; Lung Volume Measurements ; Male ; Phenotype
    Published by:
    http://www.nature.com/

    Latest Papers from Table of Contents or Articles in Press
  2. 2
    Staff View
    ISSN:
    1364-6753
    Keywords:
    Key words Migraine ; DBH ; SERT ; DRD2 ; Linkage
    Source:
    Springer Online Journal Archives 1860-2000
    Topics:
    Medicine
    Notes:
    ABSTRACT Migraine is a debilitating neurological disorder characterized by recurrent attacks of severe headache. The disorder is highly prevalent, affecting approximately 12% of Caucasian populations. It is well known that migraine has a strong genetic component, although the type and number of genes involved is not yet clear. However, the calcium channel gene, CACNA1A , on chromosome 19 contains mutations responsible for familial hemiplegic migraine, a rare and severe subtype of migraine. There is also evidence to suggest that serotonin- and dopamine-related genes may be involved in the pathogenesis of migraine. This study employed a linkage and association approach to investigate neurotransmitter-related migraine candidate genes. Polymorphisms within the dopamine beta-hydroxylase ( DBH ) gene, serotonin transporter gene ( SERT ), and dopamine receptor gene ( DRD2 ) were tested in 177 unrelated Caucasian migraineurs and 182 control individuals. In addition, an independent sample of 82 families affected with migraine was examined. Unrelated case-control association analysis of a DBH intragenic dinucleotide polymorphism indicated altered allelic distribution between migraine and control groups (χ 2 =16.53, P =0.019). Furthermore, the transmission/disequilibrium test, which was implemented on the family data, also indicated distortion of allele transmission for the same DBH marker (χ 2 =4.44, P =0.035). Together, these results provide evidence for allelic association of the DBH gene with typical migraine susceptibility (Fisher's combined P value=0.006) and indicate that further research into the role of the DBH gene in the etiology of migraine is warranted.
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/

    Articles: DFG German National Licenses
  3. 3
    Griffiths, L. R. ; Duncan, I. D.
    Springer
    Published 1979
    Staff View
    ISSN:
    1432-0533
    Keywords:
    Giant axonal neuropathy ; CNS ; Dog ; Electron microscopy
    Source:
    Springer Online Journal Archives 1860-2000
    Topics:
    Medicine
    Notes:
    Summary The pathology of the central nervous system (CNS) in a dog with giant axonal neuropathy (GAN) is presented. Swollen axons containing excessive and disorganised neurofilaments were present in the spinal cord, mainly at the distal portions of long tracts. The fasciculus gracilis and dorsal spinocerebellar tracts were affected only in the rostral cervical cord while the lateral cortico spinal tract was principally involved in the lower thoracic and lumbar cord. Occasional swellings were also found in the central dorsal columns of the rostral lumbar segments and in the dorsal and intermediate grey matter. The nuclei gracilis and cuneatus, restiform body and ventral spinocerebellar tracts were all involved in the brain stem. Spheroids were seen in the white matter of the rostral cerebellar vermis and in the granule cell layer. The brachium of the superior colliculus contained swollen axons and the cortex was diffusely involved with spheroids. The distribution was of a distal axonopathy and the cortical changes provided an explanation for the abnormal EEG and mental retardation found in some human patients.
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1007/BF00690839

    Articles: DFG German National Licenses
  4. 4
    Staff View
    ISSN:
    1573-739X
    Keywords:
    Antibiotics ; Automatic data processing ; Costs and cost analysis ; Data collection ; Drug utilization ; Formularies, hospital
    Source:
    Springer Online Journal Archives 1860-2000
    Topics:
    Chemistry and Pharmacology
    Notes:
    Abstract To identify the most suitable method to continuously monitor antibiotic prescriptions in a United Kingdom hospital, a study was performed in three phases over four years between 1985 to 1989 in a Liverpool teaching hospital. The aim of the study was to perfect a method to collect and analyse hospital-wide antibiotic prescribing data. The emphasis was laid on identifying problems and practicalities and also to minimize manpower and resource requirements. The data were used to illustrate the effect of the hospital's antibiotic policy on prescribing trends. The policy recommendation that co-trimoxazole be substituted by trimelhoprim was only partially adhered to because Augmentin® was the other replacement antibiotic in a significant number of cases. Therefore, it is important to monitor the effects of target drug programmes on all antibiotics since certain sequelae may be unexpected. A total of 1,804, 2,526 and 3,226 antibiotic prescriptions were collected and analysed during phases I, II and III respectively. 72–73% of the prescriptions were for the treatment of infection which equated to 81–89% of the total antibiotic cost. Therefore, cost control campaigns need to concentrate on infection treatment as opposed to prophylaxis. Specifically, respiratory tract, septicaemia and pyrexias of unknown origin account for the bulk of antibiotic expenditure. The method for phases I and II was multidisciplinary and very time-consuming. Phase III was very fast in operation, with data collection and analysis being performed on a single computer dedicated for the task. The minimum staff required to monitor all antibiotic prescriptions is one full-time pharmacist and clerk. Continuous intensive antibiotic monitoring in United Kingdom hospitals will not be feasible until antibiotic prescription forms are introduced on all wards.
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1007/BF01871259

    Articles: DFG German National Licenses