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Activating glucokinase (GCK) mutations as a cause of medically responsive congenital hyperinsulinism: prevalence in children and characterisation of a novel GCK mutation.

https://arctichealth.org/en/permalink/ahliterature85895
Source
Eur J Endocrinol. 2008 Jul;159(1):27-34
Publication Type
Article
Date
Jul-2008
Author
Christesen Henrik B T
Tribble Nicholas D
Molven Anders
Siddiqui Juveria
Sandal Tone
Brusgaard Klaus
Ellard Sian
Njølstad Pål R
Alm Jan
Brock Jacobsen Bendt
Hussain Khalid
Gloyn Anna L
Author Affiliation
HC Andersen Children's Hospital, Odense University Hospital, DK-5000 Odense C, Denmark.
Source
Eur J Endocrinol. 2008 Jul;159(1):27-34
Date
Jul-2008
Language
English
Publication Type
Article
Keywords
Cohort Studies
Denmark - epidemiology
Enzyme Activation - drug effects
Gene Frequency
Genotype
Glucokinase - genetics - metabolism
Glucose - metabolism
Great Britain - epidemiology
Heterozygote
Mutation
Norway - epidemiology
Persistent Hyperinsulinemia Hypoglycemia of Infancy - drug therapy - epidemiology - genetics
Prevalence
Substrate Specificity
Abstract
OBJECTIVE: Activating glucokinase (GCK) mutations are a rarely reported cause of congenital hyperinsulinism (CHI), but the prevalence of GCK mutations is not known. METHODS: From a pooled cohort of 201 non-syndromic children with CHI from three European referral centres (Denmark, n=141; Norway, n=26; UK, n=34), 108 children had no K(ATP)-channel (ABCC8/KCNJ11) gene abnormalities and were screened for GCK mutations. Novel GCK mutations were kinetically characterised. RESULTS: In five patients, four heterozygous GCK mutations (S64Y, T65I, W99R and A456V) were identified, out of which S64Y was novel. Two of the mutations arose de novo, three were dominantly inherited. All the five patients were medically responsive. In the combined Danish and Norwegian cohort, the prevalence of GCK-CHI was estimated to be 1.2% (2/167, 95% confidence interval (CI) 0-2.8%) of all the CHI patients. In the three centre combined cohort of 72 medically responsive children without K(ATP)-channel mutations, the prevalence estimate was 6.9% (5/72, 95% CI 1.1-12.8%). All activating GCK mutations mapped to the allosteric activator site. The novel S64Y mutation resulted in an increased affinity for the substrate glucose (S(0.5) 1.49+/-0.08 and 7.39+/-0.05 mmol/l in mutant and wild-type proteins respectively), extrapolating to a relative activity index of approximately 22 compared with the wild type. CONCLUSION: In the largest study performed to date on GCK in children with CHI, GCK mutations were found only in medically responsive children who were negative for ABCC8 and KCNJ11 mutations. The estimated prevalence (approximately 7%) suggests that screening for activating GCK mutations is warranted in those patients.
PubMed ID
18450771 View in PubMed
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Acute myocardial infarction: a comparison of short-term survival in national outcome registries in Sweden and the UK.

https://arctichealth.org/en/permalink/ahliterature105169
Source
Lancet. 2014 Apr 12;383(9925):1305-12
Publication Type
Article
Date
Apr-12-2014
Author
Sheng-Chia Chung
Rolf Gedeborg
Owen Nicholas
Stefan James
Anders Jeppsson
Charles Wolfe
Peter Heuschmann
Lars Wallentin
John Deanfield
Adam Timmis
Tomas Jernberg
Harry Hemingway
Author Affiliation
Farr Institute of Health Informatics Research at UCL Partners, University College London, London, UK.
Source
Lancet. 2014 Apr 12;383(9925):1305-12
Date
Apr-12-2014
Language
English
Publication Type
Article
Keywords
Aged
Female
Great Britain - epidemiology
Humans
Male
Myocardial Infarction - mortality - therapy
Registries
Risk factors
Survival Analysis
Sweden - epidemiology
Abstract
International research for acute myocardial infarction lacks comparisons of whole health systems. We assessed time trends for care and outcomes in Sweden and the UK.
We used data from national registries on consecutive patients registered between 2004 and 2010 in all hospitals providing care for acute coronary syndrome in Sweden and the UK. The primary outcome was all-cause mortality 30 days after admission. We compared effectiveness of treatment by indirect casemix standardisation. This study is registered with ClinicalTrials.gov, number NCT01359033.
We assessed data for 119,786 patients in Sweden and 391,077 in the UK. 30-day mortality was 7·6% (95% CI 7·4-7·7) in Sweden and 10·5% (10·4-10·6) in the UK. Mortality was higher in the UK in clinically relevant subgroups defined by troponin concentration, ST-segment elevation, age, sex, heart rate, systolic blood pressure, diabetes mellitus status, and smoking status. In Sweden, compared with the UK, there was earlier and more extensive uptake of primary percutaneous coronary intervention (59% vs 22%) and more frequent use of ß blockers at discharge (89% vs 78%). After casemix standardisation the 30-day mortality ratio for UK versus Sweden was 1·37 (95% CI 1·30-1·45), which corresponds to 11,263 (95% CI 9620-12,827) excess deaths, but did decline over time (from 1·47, 95% CI 1·38-1·58 in 2004 to 1·20, 1·12-1·29 in 2010; p=0·01).
We found clinically important differences between countries in acute myocardial infarction care and outcomes. International comparisons research might help to improve health systems and prevent deaths.
Seventh Framework Programme for Research, National Institute for Health Research, Wellcome Trust (UK), Swedish Association of Local Authorities and Regions, Swedish Heart-Lung Foundation.
Notes
Comment In: Lancet. 2014 Apr 12;383(9925):1274-624461716
Comment In: Lancet. 2014 Apr 19;383(9926):136024759236
Comment In: Lancet. 2014 Jul 26;384(9940):303-425066152
Comment In: Lancet. 2014 Jul 26;384(9940):30425066153
Comment In: Lancet. 2014 Jul 26;384(9940):304-525066154
Comment In: Lancet. 2014 Jul 26;384(9940):30525066156
Comment In: Lancet. 2014 Jul 26;384(9940):305-625066155
Comment In: Nat Rev Cardiol. 2014 Mar;11(3):12624514022
PubMed ID
24461715 View in PubMed
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Acute sports injuries. Data on leisure accidents and injuries should be collated centrally.

https://arctichealth.org/en/permalink/ahliterature212347
Source
BMJ. 1996 Mar 30;312(7034):844-5
Publication Type
Article
Date
Mar-30-1996
Author
S. O'Driscoll
H. Campbell
Source
BMJ. 1996 Mar 30;312(7034):844-5
Date
Mar-30-1996
Language
English
Publication Type
Article
Keywords
Athletic Injuries - etiology
Finland - epidemiology
Great Britain - epidemiology
Humans
Leisure Activities
Notes
Cites: Health Bull (Edinb). 1995 Sep;53(5):280-937490199
Cites: BMJ. 1995 Dec 2;311(7018):1465-88520333
Cites: Lancet. 1995 Jun 10;345(8963):1485-77769905
Cites: Lancet. 1995 Jul 15;346(8968):188-97603258
Comment On: BMJ. 1995 Dec 2;311(7018):1465-88520333
PubMed ID
8608303 View in PubMed
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Advanced breast cancer and breast cancer mortality in randomized controlled trials on mammography screening.

https://arctichealth.org/en/permalink/ahliterature147587
Source
J Clin Oncol. 2009 Dec 10;27(35):5919-23
Publication Type
Article
Date
Dec-10-2009
Author
Philippe Autier
Clarisse Héry
Jari Haukka
Mathieu Boniol
Graham Byrnes
Author Affiliation
Epidemiology and Biostatistics Cluster, International Agency for Research on Cancer, Lyon, France. pre@iarc.fr
Source
J Clin Oncol. 2009 Dec 10;27(35):5919-23
Date
Dec-10-2009
Language
English
Publication Type
Article
Keywords
Adult
Breast Neoplasms - mortality - radiography - secondary
Canada - epidemiology
Female
Great Britain - epidemiology
Humans
Incidence
Linear Models
Lymphatic Metastasis
Mammography
Middle Aged
Neoplasm Staging
Predictive value of tests
Randomized Controlled Trials as Topic
Risk assessment
Sweden - epidemiology
United States - epidemiology
Abstract
We assessed changes in advanced cancer incidence and cancer mortality in eight randomized trials of breast cancer screening.
Depending on published data, advanced cancer was defined as cancer > or = 20 mm in size (four trials), stage II+ (four trials), and > or = one positive lymph node (one trial). For each trial, we obtained the estimated relative risk (RR) and 95% CI between the intervention and control groups, for both breast cancer mortality and diagnosis of advanced breast cancer. Using a meta-regression approach, log(RR-mortality) was regressed on log(RR-advanced cancer), weighting each trial by the reciprocal of the square of the standard error of log(RR) for mortality.
RR for advanced breast cancer ranged from 0.69 (95% CI, 0.61 to 0.78) in the Swedish Two-County Trial to 0.97 (95% CI, 0.97 to 1.25) in the Canadian National Breast Screening Study-1 (NBSS-1) trial. Log(RR)s for advanced cancer were highly predictive of log(RR)s for mortality (R(2) = 0.95; P
PubMed ID
19884547 View in PubMed
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After more than 10 years of Gulf War veteran medical evaluations, what have we learned?

https://arctichealth.org/en/permalink/ahliterature179946
Source
Am J Prev Med. 2004 Jun;26(5):443-52
Publication Type
Article
Date
Jun-2004
Author
Gregory C Gray
Gary D Gackstetter
Han K Kang
John T Graham
Ken C Scott
Author Affiliation
Department of Epidemiology, College of Public Health, University of Iowa, Iowa City, Iowa 52242, USA. gregory-gray@uiowa.edu
Source
Am J Prev Med. 2004 Jun;26(5):443-52
Date
Jun-2004
Language
English
Publication Type
Article
Keywords
Ambulatory Care - statistics & numerical data
Canada - epidemiology
Great Britain - epidemiology
Hospitalization - statistics & numerical data
Humans
Persian Gulf Syndrome - epidemiology
Registries
United States - epidemiology
Veterans
Abstract
Since the 1991 Gulf War, more than 10 years and 1 billion dollars of health evaluations and research have been invested in understanding illnesses among Gulf War veterans. We examined the extensive published healthcare utilization data in an effort to summarize what has been learned. Using multiple search techniques, data as of June 2003 from four different national Gulf War health registries and numerous hospitalization and ambulatory care reports were reviewed. Thus far, published reports have not revealed a unique Gulf War syndrome nor identified specific exposures that might explain postwar morbidity. Instead, they have demonstrated that Gulf War veterans have had an increase in multi-symptom condition, injury, and mental health diagnoses. While these diagnoses are similar to those experienced by other comparable military populations, their explanation is not fully understood. New strategies to identify risk factors for, and to reduce, such postdeployment conditions are summarized.
PubMed ID
15165662 View in PubMed
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[A historical birth tragedy. Neonatal infections still of interest today as they were 300 years ago]

https://arctichealth.org/en/permalink/ahliterature37453
Source
Tidsskr Nor Laegeforen. 1990 Dec 10;110(30):3860-2
Publication Type
Article
Date
Dec-10-1990
Author
R. Lindemann
Author Affiliation
Barneavdelingen, Ullevål sykehus, Oslo.
Source
Tidsskr Nor Laegeforen. 1990 Dec 10;110(30):3860-2
Date
Dec-10-1990
Language
Norwegian
Publication Type
Article
Keywords
Abortion, Spontaneous - history - immunology
Bacterial Infections - history - immunology - mortality
Denmark - epidemiology
English Abstract
Female
Great Britain - epidemiology
History, 17th Century
History, 18th Century
History, 19th Century
History, 20th Century
Humans
Infant mortality
Infant, Newborn
Infant, Newborn, Diseases - history - immunology - mortality
Listeria Infections - history - immunology - mortality
Norway - epidemiology
Pregnancy
Abstract
Neonatal bacterial infections are still important causes of perinatal mortality and morbidity, as they were 300 years ago. Queen Anne (1655-1714) underwent 18 pregnancies without producing any successors, probably because the children died of perinatal infection. Some women are unable to produce a specific IgG-antibody against Group B streptococcus (GBS). They may have normal IgM production and are thereby self-protected, while their infants risk developing neonatal GBS septicaemia. Listeria monocytogenes may cause repeated miscarriages, stillbirths and neonatal infections and, even today, is an important cause of perinatal deaths. The miscarriages and neonatal deaths of Queen Anne are believed to have been caused by an asymptomatic listeria monocytogenes infection. The importance of recognizing women at risk for these types of infections is discussed.
PubMed ID
2281448 View in PubMed
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Aircraft-Assisted Pilot Suicides: Lessons to be Learned.

https://arctichealth.org/en/permalink/ahliterature257750
Source
Aviat Space Environ Med. 2014 Aug;85(8):841-6
Publication Type
Article
Date
Aug-2014
Author
Alpo Vuorio
Tanja Laukkala
Pooshan Navathe
Bruce Budowle
Anne Eyre
Antti Sajantila
Author Affiliation
Mehiläinen Airport Health Centre, Vantaa and Finnish Institute of Occupational Health, Lappeenranta, Finland.
Source
Aviat Space Environ Med. 2014 Aug;85(8):841-6
Date
Aug-2014
Language
English
Publication Type
Article
Keywords
Accidents, Aviation - psychology - statistics & numerical data
Adult
Aged
Aircraft
Autopsy
Female
Finland - epidemiology
Germany - epidemiology
Great Britain - epidemiology
Humans
Male
Middle Aged
Suicidal ideation
Suicide - statistics & numerical data
United States - epidemiology
Abstract
Aircraft assisted suicides were studied in the United States, United Kingdom, Germany, and Finland during 1956-2012 by means of literature search and accident case analysis. According to our study the frequency varied slightly between the studies. Overall, the new estimate of aircraft assisted suicides in the United States in a 20-yr period (1993-2012) is 0.33% (95% CI 0.21-0.49) (24/7244). In the detailed accident case analysis, it was found that in five out of the eight cases from the United States, someone knew of prior suicidal ideation before the aircraft assisted fatality. The caveats of standard medico-legal autopsy and accident investigation methods in investigation of suspected aircraft assisted suicides are discussed. It is suggested that a psychological autopsy should be performed in all such cases. Also the social context and possibilities of the prevention of aviation-related suicides were analyzed. In addition, some recent aircraft assisted suicides carried out using commercial aircraft during scheduled services and causing many casualties are discussed.
PubMed ID
25199127 View in PubMed
Less detail
Source
BMJ. 1994 Feb 26;308(6928):598
Publication Type
Article
Date
Feb-26-1994
Author
A G Shaper
Source
BMJ. 1994 Feb 26;308(6928):598
Date
Feb-26-1994
Language
English
Publication Type
Article
Keywords
Age Factors
Alcohol Drinking - mortality
Denmark - epidemiology
Great Britain - epidemiology
Humans
Male
Middle Aged
Sex Factors
Notes
Comment On: BMJ. 1994 Jan 29;308(6924):302-68124118
PubMed ID
8204180 View in PubMed
Less detail

458 records – page 1 of 46.