LIVIVO - The Search Portal for Life Sciences

zur deutschen Oberfläche wechseln
Advanced search

Search results

Result 1 - 10 of total 17806

Search options

  1. Article ; Online: A

    Ishii, Atsushi / Kang, Jing-Qiong / Schornak, Cara C / Hernandez, Ciria C / Shen, Wangzhen / Watkins, Joseph C / Macdonald, Robert L / Hirose, Shinichi

    Journal of medical genetics

    2016  Volume 54, Issue 3, Page(s) 202–211

    Abstract: Background: Early myoclonic encephalopathy (EME), a disease with a devastating prognosis, is characterised by neonatal onset of seizures and massive myoclonus accompanied by a continuous suppression-burst EEG pattern. Three genes are associated with ... ...

    Abstract Background: Early myoclonic encephalopathy (EME), a disease with a devastating prognosis, is characterised by neonatal onset of seizures and massive myoclonus accompanied by a continuous suppression-burst EEG pattern. Three genes are associated with EMEs that have metabolic features. Here, we report a pathogenic mutation of an ion channel as a cause of EME for the first time.
    Methods: Sequencing was performed for 214 patients with epileptic seizures using a gene panel with 109 genes that are known or suspected to cause epileptic seizures. Functional assessments were demonstrated by using electrophysiological experiments and immunostaining for mutant γ-aminobutyric acid-A (GABA
    Results: We discovered a
    Conclusion: This mutation has complex functional effects on GABA
    MeSH term(s) Brain/diagnostic imaging ; Brain/physiopathology ; Crystallography, X-Ray ; Electroencephalography ; HEK293 Cells ; Humans ; Infant ; Male ; Models, Molecular ; Mutation, Missense ; Opsoclonus-Myoclonus Syndrome/genetics ; Opsoclonus-Myoclonus Syndrome/physiopathology ; Receptors, GABA-A/chemistry ; Receptors, GABA-A/genetics ; Seizures/genetics ; Seizures/physiopathology ; Spasms, Infantile/genetics ; Spasms, Infantile/physiopathology
    Chemical Substances GABRB2 protein, human ; Receptors, GABA-A
    Language English
    Publishing date 2016-10-27
    Publishing country England
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 220881-7
    ISSN 1468-6244 ; 0022-2593
    ISSN (online) 1468-6244
    ISSN 0022-2593
    DOI 10.1136/jmedgenet-2016-104083
    Database MEDical Literature Analysis and Retrieval System OnLINE

    Full text online

    More links

    Kategorien

    In stock of ZB MED Cologne/Königswinter

    Zs.A 177: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (1.OG)
    ab Jg. 2022: Lesesaal (EG)

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

  2. Book ; Online ; E-Book: Life at high pressure

    Macdonald, Alister

    in the deep sea and other environments

    2021  

    Author's details Alister Macdonald
    Keywords High pressure (Technology) ; High pressure biology ; Hydrostatic pressure/Physiological effect ; Hipertensió
    Subject code 660.29
    Language English
    Size 1 online resource (454 pages)
    Publisher Springer
    Publishing place Cham, Switzerland
    Document type Book ; Online ; E-Book
    Remark Zugriff für angemeldete ZB MED-Nutzerinnen und -Nutzer
    ISBN 3-030-67587-4 ; 3-030-67586-6 ; 978-3-030-67587-5 ; 978-3-030-67586-8
    Database ZB MED Catalogue: Medicine, Health, Nutrition, Environment, Agriculture

    Full text online

    Kategorien

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

    Inter-library loan at ZB MED

    Your chosen title can be delivered directly to ZB MED Cologne location if you are registered as a user at ZB MED Cologne.

  3. Book ; Online: Diet Therapy and Nutritional Management of Phenylketonuria

    MacDonald, Anita

    2022  

    Keywords Research & information: general ; Biology, life sciences ; Food & society ; phenylketonuria ; special low protein foods ; nutritional composition ; UK ; macronutrients ; phenylketonuria (PKU) ; consensus ; Delphi method ; food labelling ; phenylalanine ; Phe ; protein ; exchanges ; PKU ; glycomacropeptide ; amino acid ; absorption ; diet therapy ; protein substitute ; gastrointestinal symptoms ; prolonged release ; satiety ; macronutrient intake ; protein content ; free from ; gluten free ; aspartame ; sugar tax ; phenylalanine hydroxylase deficiency ; hyperphenylalaninemia ; medical formula ; amino acid mixture ; tetrahydrobiopterin ; sapropterin ; BH4 ; body composition ; bone mineral density ; bone turnover markers ; osteoporosis ; blood biochemistry ; casein glycomacropeptide ; amino acid protein substitute ; low-protein diet ; newborn screening ; metabolic control ; guidelines ; nitrogen balance ; amino acid catabolism ; blood urea nitrogen ; body mass index ; obesity ; overweight ; phenylalanine restriction ; phenylalanine-restricted diet ; food ; school ; IHCP ; parent/caregiver experiences ; England ; prescribing patterns ; costs ; adult phenylketonuria ; standard operating procedure ; inherited metabolic disorders ; dietary management ; eating out ; low protein food ; restaurants ; amino acids ; adherence ; epigenetics ; health ; preconception ; women ; dietary patterns ; food frequency questionnaire ; validation ; reproducibility
    Language 0|e
    Size 1 electronic resource (376 pages)
    Publisher MDPI - Multidisciplinary Digital Publishing Institute
    Document type Book ; Online
    Note English ; Open Access
    HBZ-ID HT021620620
    ISBN 9783036553207 ; 3036553207
    Database ZB MED Catalogue: Medicine, Health, Nutrition, Environment, Agriculture

    More links

    Kategorien

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

    Inter-library loan at ZB MED

    Your chosen title can be delivered directly to ZB MED Cologne location if you are registered as a user at ZB MED Cologne.

  4. Book ; Online: Taymāʾ II : Catalogue of the Inscriptions Discovered in the Saudi-German Excavations at Taymāʾ 2004-2015

    Macdonald, Michael C.A.

    2021  

    Keywords Archaeology ; Social Science
    Size 1 Online-Ressource
    Publisher Archaeopress Publishing
    Document type Book ; Online
    Note English ; Open Access
    HBZ-ID HT021232519
    Database ZB MED Catalogue: Medicine, Health, Nutrition, Environment, Agriculture

    More links

    Kategorien

    Inter-library loan at ZB MED

    Your chosen title can be delivered directly to ZB MED Cologne location if you are registered as a user at ZB MED Cologne.

  5. Book: Nutrition and Metabolism

    Schols, Annemie M. W. J. / Roche, Helen M. / Macdonald, Ian A. / Lanham-New, Susan A.

    2024  

    Size 496 p.
    Publisher John Wiley & Sons Ltd
    Document type Book
    Note PDA Manuell_25
    Format 255 x 204 x 31
    ISBN 9781119840237 ; 1119840236
    Database PDA

    Kategorien

    Order for free: Patron-Driven-Acquisition (PDA)

    This title is not yet in the ZB MED collection, but may be ordered for free via the ZB MED acquisition service PDA. The ordered item will be available in approximately one week.

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

    Inter-library loan at ZB MED

    Your chosen title can be delivered directly to ZB MED Cologne location if you are registered as a user at ZB MED Cologne.

  6. Article ; Online: The effect of a 'Sip til Send' policy on patient satisfaction: a quality improvement project.

    Wiles, M D / Macdonald, A

    Anaesthesia reports

    2024  Volume 12, Issue 1, Page(s) e12271

    Abstract: Patients often are nil by mouth for prolonged periods pre-operatively, which is associated with adverse effects including discomfort, anxiety, thirst and nausea. As a result, several hospitals have introduced a more liberal regimen of pre-operative ... ...

    Abstract Patients often are nil by mouth for prolonged periods pre-operatively, which is associated with adverse effects including discomfort, anxiety, thirst and nausea. As a result, several hospitals have introduced a more liberal regimen of pre-operative drinking, with patients encouraged to sip small volumes of water until transfer to the operating theatre ('Sip til Send'). The impact of 'Sip til Send' on patient satisfaction is still to be determined. We hypothesised that the introduction of a 'Sip til Send' policy would increase patient's satisfaction with their pre-operative fluid management regimen. We conducted a staged implementation of a 'Sip til Send' quality improvement initiative in two campuses of a large tertiary teaching hospital. This involved a targeted education and implementation programme that was refined and delivered through 'plan, do, study and act' cycles. Patient satisfaction with their pre-operative fluid management was measured by rating the statement "I am happy with the management of pre-operative drinking", against a five-point Likert scale (0, strongly disagree; 1, disagree; 2, neutral; 3, agree; and 4, strongly agree). Patient satisfaction with pre-operative fluid management was high at baseline, with pooled data for both campuses showing a median (IQR [range]) satisfaction score of 4 (3-4 [1-4]). After the implementation of 'Sip til Send', this improved to a median (IQR [range]) satisfaction score of 4 (4-4 [2-4]) (p < 0.001). The introduction of a 'Sip til Send' policy resulted in an increase in patient satisfaction. Key factors in successful implementation included the provision of a clear explanation of the underlying rationale to patients, nursing and anaesthetic staff, and establishing the policy as the default position for all elective patients.
    Language English
    Publishing date 2024-01-06
    Publishing country England
    Document type Journal Article
    ISSN 2637-3726
    ISSN (online) 2637-3726
    DOI 10.1002/anr3.12271
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

    Inter-library loan at ZB MED

    Your chosen title can be delivered directly to ZB MED Cologne location if you are registered as a user at ZB MED Cologne.

  7. Book ; Online: In Clear Words The Prasannapada, Chapter One

    MacDonald, Anne

    Volume I: Introduction, Manuscript Description, Sanskrit Text Volume II: Prasannapada, Tibetan Text

    (Beiträge zur Kultur- und Geistesgeschichte Asiens)

    2015  

    Series title Beiträge zur Kultur- und Geistesgeschichte Asiens
    Keywords Oriental & Indian philosophy ; Philosophy
    Language English
    Size 1 Online-Ressource
    Publisher Austrian Academy of Sciences Press
    Document type Book ; Online
    Note English
    HBZ-ID HT030610326
    ISBN 9783700176732 ; 3700176732
    Database ZB MED Catalogue: Medicine, Health, Nutrition, Environment, Agriculture

    More links

    Kategorien

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

    Inter-library loan at ZB MED

    Your chosen title can be delivered directly to ZB MED Cologne location if you are registered as a user at ZB MED Cologne.

  8. Article: Menthol, an Anti-Neuralgic.

    Macdonald, A D

    Atlanta medical and surgical journal

    2022  Volume 17, Issue 10, Page(s) 642

    Language English
    Publishing date 2022-07-11
    Publishing country United States
    Document type Journal Article
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

    Inter-library loan at ZB MED

    Your chosen title can be delivered directly to ZB MED Cologne location if you are registered as a user at ZB MED Cologne.

  9. Article ; Online: The case of the Guru Nanak Emergency Services Department: Sikh therapeutic geographies.

    Macdonald, Arlene

    Social science & medicine (1982)

    2020  Volume 259, Page(s) 113144

    Abstract: Why, in the early 21st century, has a publicly funded, publicly operated Canadian hospital incorporated the founding figure of the Sikh religion into its architecture and its identity? Drawing on qualitative research, this paper argues that the Guru ... ...

    Abstract Why, in the early 21st century, has a publicly funded, publicly operated Canadian hospital incorporated the founding figure of the Sikh religion into its architecture and its identity? Drawing on qualitative research, this paper argues that the Guru Nanak Emergency Department is not an extension of the old tradition of naming hospitals after religious figures, but rather a novel development arising from the "super-diversity" of contemporary cities, the "spiritualizing" of healthcare ecologies, and the vigorous actions of Sikhs attempting to remedy social wounds and build 'healthy spaces' in the pluralistic urban environs they are part of. A new therapeutic geography is emergent; the Guru Nanak Emergency Department signals new trajectories of care propagated by the lively interrelations of spiritualized healthcare ecologies, precarious and mobile religious minorities, and the city that houses them both.
    MeSH term(s) Canada ; Cultural Diversity ; Emergency Service, Hospital ; Geography ; Humans ; Religion
    Language English
    Publishing date 2020-06-22
    Publishing country England
    Document type Journal Article
    ZDB-ID 4766-1
    ISSN 1873-5347 ; 0037-7856 ; 0277-9536
    ISSN (online) 1873-5347
    ISSN 0037-7856 ; 0277-9536
    DOI 10.1016/j.socscimed.2020.113144
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

    In stock of ZB MED Cologne/Königswinter

    Zs.A 625: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (1.OG)
    ab Jg. 2022: Lesesaal (EG)

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

  10. Article ; Online: Nutrition and the Metabolic Health of Children.

    Macdonald, Ian A / Binia, Aristea

    Nestle Nutrition Institute workshop series

    2023  Volume 97, Page(s) 41–50

    Abstract: Overnutrition, expressed as overweight and obesity, sometimes combined with inadequate micronutrient intake, coexists together with undernutrition as the major threats of malnutrition in children. Appropriate growth and metabolism of children have been ... ...

    Abstract Overnutrition, expressed as overweight and obesity, sometimes combined with inadequate micronutrient intake, coexists together with undernutrition as the major threats of malnutrition in children. Appropriate growth and metabolism of children have been extensively studied as to their association with future metabolic diseases. It is appreciated that early growth is controlled via the biochemical pathways that support organ and tissue growth and development, energy release from dietary intake, and production and release of hormones and growth factors regulating the biochemical processes. Anthropometric measurements, body composition, and their trajectories have been the metrics to evaluate both age-appropriate growth and link to future metabolic disease risk. As factors associated with risk of metabolic disease like childhood obesity are fairly well known, a strategic framework that includes appropriate nutrition and healthy dietary habits, adoption of the right behavior, and healthy food choices from early infancy to childhood is necessary to decrease this risk. The role of industry in this is to provide foods rich in nutrients developmentally appropriate and to promote responsible consumption and age-adapted portion sizes.
    MeSH term(s) Child ; Humans ; Pediatric Obesity/epidemiology ; Pediatric Obesity/prevention & control ; Nutritional Status ; Diet ; Malnutrition ; Body Composition
    Language English
    Publishing date 2023-04-06
    Publishing country Switzerland
    Document type Journal Article ; Review
    ISSN 1664-2155
    ISSN (online) 1664-2155
    DOI 10.1159/000529004
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

    Inter-library loan at ZB MED

    Your chosen title can be delivered directly to ZB MED Cologne location if you are registered as a user at ZB MED Cologne.

To top