bluuebunny/crossref_metadata_2025_split huggingface dataset:
Medical needs of people with intellectual disability require regular reassessment, and the provision of client‐ and carer‐held reports
Authors: Kerr A. M. , McCulloch D. , Oliver K. , McLean B. , Coleman E. , Law T. , Beaton P. , Wallace S. , Newell E. , Eccles T. , Prescott R. J. 
Published: March 2003

AbstractBackground  Previous work has indicated a wide range of unmet medical health needs in people with intellectual disability (ID).Methods  A profile of recorded medical needs was produced for 589 people with ID through a detailed search of individual medical and nursing case records. Specialist optometric and audiological assessments were offered, and reports were provided in technical and plain English terms. A Health Watch project delivered folders with copies of the plain English reports to 60 individuals and carers.Results  The case record review indicated a wide range of medical disorders; however, exact diagnoses and counselling regarding underlying neurological conditions were seldom recorded. Assessed levels of hearing and vision loss were much greater than had been previously recognized. The Health Watch reports were welcomed by the clients and carers.Conclusions  If satisfactory healthcare is to be achieved for people with ID, medical needs must be monitored, regular specialist reassessments offered, access to specialist services facilitated and reports clearly explained to carers.
Predictors and mode of death over 5 years amongst patients admitted to the emergency department with acute chest pain or other symptoms raising suspicion of acute myocardial infarction
Authors: Herlitz  , Karlson  , Lindqvist  , SJölin  
Published: March 2003

Herlitz J, Karlson BW, Lindqvist J, Sjölin M (Sahlgrenska University Hospital, Göteborg, Sweden). Predictors and mode of death over 5 years amongst patients admitted to the emergency department with acute chest pain or other symptoms raising suspicion of acute myocardial infarction. J Intern Med 1998; 243: 41–48.AimTo describe the mortality and mode of death over 5 years, and factors associated with death amongst patients with acute chest pain.PatientsAll patients who came to the emergency department at Sahlgrenska Hospital in Göteborg with acute chest pain or other symptoms raising suspicion of acute myocardial infarction (AMI) during a 21‐month period.ResultsIn all, 5241 patients were evaluated, of whom 1345 (26%) died during the 5 years of follow‐up. The following factors were independent predictors of an increased risk of death: age (P < 0.001); male sex (P < 0.001); symptoms of acute congestive heart failure (P < 0.001) or unspecific symptoms on admission (P < 0.05); smoking (P < 0.001); a history of either congestive heart failure (P < 0.001), diabetes mellitus (P < 0.001), previous myocardial infarction (P < 0.001) or hypertension (P < 0.05); initial degree of suspicion of AMI (P < 0.001) and presence of pathological electrocardiogram (P < 0.001) on admission to hospital. Amongst patients who died, 66% died a cardiac death and 35% died in association with a myocardial infarction.ConclusionAmongst patients admitted to the emergency department due to chest pain or other symptoms raising suspicion of AMI, several predictors based on clinical history and clinical presentation can be defined, which are strongly related to the long‐term prognosis.
HFE mutations in patients with hereditary haemochromatosis in Sweden
Authors: Cardoso  , Stål  , Hagen  , Cabeda  , Cabeda  , Esin  , De Sousa  , Hultcrantz  
Published: March 2003

Cardoso EMP, Stål P, Hagen K, Cabeda JM, Esin S, De Sousa M, Hultcrantz R (Karolinska Hospital, Stockholm; Huddinge University Hospital, Huddinge; and Karolinska Institute, Stockholm, Sweden; Santo António Hospital; Abel Salazar Institute for Biomedical Sciences, Porto, Portugal). HFE mutations in patients with hereditary haemochromatosis in Sweden. J Intern Med 1998; 243: 203–8.ObjectiveTo determine the frequency of mutations (C282Y and H63D) in a newly identified gene HFE in patients with hereditary haemochromatosis (HH) in Sweden.DesignMolecular genetic analyses of the HFE gene (polymerase chain reaction (PCR) followed by enzyme restriction) were performed in genomic DNA from unrelated patients with a clinical diagnosis of HH and in healthy subjects.SettingsPatients with HH treated with phlebotomies at Karolinska Hospital and Huddinge Hospital were analyzed.SubjectsEighty‐seven unrelated patients with HH and 117 healthy controls.ResultsIt was found that the HFE C282Y mutation occurs in 94.2% of chromosomes from patients with HH. Eighty patients (92.0%) were homo‐ zygous for the C282Y mutation and one was heterozygous. Three patients were heterozygous for both C282Y and H63D mutations. One patient was homozygous and one was heterozygous for the H63D mutation. One patient carried normal alleles. In healthy controls, the C282Y mutation occurred in nine subjects (7.7%), all of which were heterozygous. The H63D mutation was found in 28 control subjects, one of which was homozygous.ConclusionsWe found that the majority of patients with HH have the C282Y mutation in the HFE gene. The frequency of the H63D mu‐ tation was higher in controls than in patients with HH, although in chromosomes at risk the frequency of the H63D mutation was higher in patients.
The genetic analysis of cancer
Authors: Pearson  , Van der Luijt  
Published: March 2003

Pearson PL, Van der Luijt RB (Utrecht University, Utrecht, the Netherlands). The genetic analysis of cancer (Minisymposium: MEN & VHL). J Intern Med 1998; 243: 413–17.During the past two decades an overwhelming amount of knowledge has been acquired on the molecular genetics of human cancer. It is now evident that cancer is essentially a genetic disease, arising from inherited and/or somatically acquired mutations at different genetic loci, and that tumourigenesis is a multistep process. Gene mapping studies of inherited cancer syndromes have resulted in the identification of many genes implicated in the initiation of tumours. Importantly, alterations of the same genes were also found to play a role in the development of common, non‐familial tumours. The genes involved belong to distinct functional classes, and include proto‐oncogenes and tumour suppressor genes, which are regulators of cellular growth and proliferation, cell adhesion and programmed cell death. Another class of cancer susceptibility genes consists of DNA repair genes, which are involved in maintaining genomic stability. In unravelling the genetic basis of cancer, the localization and identification of genes involved in tumourigenesis can be considered as the ‘easy’ part; determination of the normal physiological function of these genes and their precise role in tumourigenesis has proved to be much more difficult. In this review, we highlight some of the major breakthroughs in the field of cancer genetics, and discuss recent insights in the putative role of proto‐oncogenes, tumour suppressor genes and DNA repair genes in the initiation and progression of cancer. Also, we point to some of the challenges to be faced in the coming years.
Influence of chronic alcohol abuse on body weight and energy metabolism: is excess ethanol consumption a risk factor for obesity or malnutrition?
Authors: Addolorato  , Addolorato  , Capristo  , Greco  , Stefanini  , Stefanini  , Gasbarrini  
Published: March 2003

Abstract. Addolorato G, Capristo E, Greco AV, Stefanini GF, Gasbarrini G (Catholic University, Rome; ‘G. Fontana’ University Center for the Study and Treatment of the Alcohol Addiction, Bologna; and Civic Hospital, Faenza, Italy). Influence of chronic alcohol abuse on body weight and energy metabolism: is excess ethanol consumption a risk factor for obesity or malnutrition?J Intern Med 1998; 244: 387–95.ObjectivesTo evaluate the influence of chronic alcohol abuse on body composition and energy metabolism in patients affected by chronic alcoholism (group A) compared with a group of healthy social drinkers (group B).SettingA university hospital clinic in Italy.SubjectsA total of 32 alcoholics without clinical or laboratory signs of liver cirrhosis and malabsorption.MeasurementsBody composition was assessed by anthropometric measurements. Resting energy expenditure (REE) and substrate oxidation rate was measured by indirect calorimetry. Daily caloric intake was computed on the basis of a food diary compiled over 7 days.ResultsAlcoholics showed a significantly lower body weight (P < 0.05) and a significant lower fat mass (P < 0.05) compared with controls. A higher waist‐to‐hip ratio was found in group A than in group B, both as a whole group (P < 0.01) or separated by gender (females, P < 0.01; and males, P < 0.001), indicating a prevalence of fat distribution in the abdominal region in alcoholics. REE was significantly higher in group A than in group B (P < 0.05). The non‐protein respiratory quotient was significantly lower in group A than in group B (P < 0.001) with a consequent higher utilization of lipids (P < 0.01) and a lower carbohydrate oxidation (P < 0.05) in group A. The energy intake provided only by food ingestion was found to be significantly higher in group B (P < 0.01), whilst the total caloric intake, computed as food intake plus alcohol intake, was higher in group A (P < 0.01).ConclusionsAlcoholics, as compared with social drinkers, showed a lower body weight due essentially to a fat mass reduction, a higher REE value normalized by fat‐free mass, and a preferential utilization of lipids as energy substrate. These findings might suggest that chronic ethanol abuse is able to determine an impairment of nutritional status due, at least in part, to an alteration of the substrate oxidation.
Lipoprotein(a) and cholesterol levels act synergistically and apolipoprotein A‐I is protective for the incidence of primary acute myocardial infarction in middle‐aged males. An incident case–control study from Sweden
Authors: Dahlén  , Weinehall  , Weinehall  , Stenlund  , Jansson  , Hallmans  , Huhtasaari  , Wall  
Published: March 2003

Abstract.Dahlén GH, Weinehall L, Stenlund H, Jansson J‐H, Hallmans G, Huhtasaari F, Wall S (Umeå University, Umeå; Skellefteå County Hospital; and Luleå‐Boden County Hospital, Sweden). Lipoprotein(a) and cholesterol levels act synergistically and apolipoprotein A‐I is protective for the incidence of primary acute myocardial infarction in middle‐aged males. An incident case–control study from Sweden.J Intern Med1998;244: 425–30.ObjectiveTo further establish the importance of total plasma apolipoprotein A‐I and lipoprotein(a) in the prediction of primary acute myocardial infarction (AMI) in men.DesignAn incident case–control study.SettingThe study was nested within the Västerbotten Intervention Program (VIP) and the Northern Sweden MONICA cohorts.SubjectsA total of 62 male AMI cases and 124 matched controls, randomly selected from the study cohorts.ResultsIn multivariate logistic regression, significant odds ratios (OR) were found for Lp(a) above 200 mg L−1, apo A‐I below the mean value (1136 mg L−1) and total cholesterol (TC) above 7.8 mmol L−1. TC interacted significantly with Lp(a); for Lp(a) above 200 mg L−1and TC below 6.5 mmol L−1, OR = 5.6; for Lp(a) above 200 mg L−1and TC above 6.5 mmol L−1, OR = 12.6. To evaluate the potential effect of reducing high levels of Lp(a) or TC on the incidence of AMI in males, the attributable risk percentage (ARP) was calculated when interaction between the two variables was present. ARP is 31% for Lp(a) and 21% for TC, implying that 31% of the cases are due to high Lp(a) and 21% of the cases are due to high TC levels.ConclusionsIn the Swedish male population, total apo A‐I in plasma is a protective factor and a plasma Lp(a) level above 200 mg L−1is a risk factor for AMI in males. A TC level above 6.5 mmol L−1increased the risk of AMI if the Lp(a) level was above 200 mg L−1, suggesting Lp(a) to be useful in identifying high risk individuals needed to be treated.
Plasma leptin levels are associated with abnormal fibrinolysis in men and postmenopausal women
Authors: Söderberg S. , Olsson T. , Eliasson M. , Johnson O. , Ahrén B. 
Published: March 2003

Abstract. Söderberg S, Olsson T, Eliasson M, Johnson O, Ahrén B (Umeå University Hospital, Luleå County Hospital and Lund University, Malmö, Sweden). Plasma leptin levels are associated with abnormal fibrinolysis in men and postmenopausal women. J Intern Med 1999; 245: 533–543.Background. Leptin is a crucial mediator of satiety signals and energy balance, and its circulating levels are increased in obesity. It has recently been shown that plasma leptin levels in humans correlate with circulating insulin and to insulin secretion. This indicates that leptin may be an important link in metabolic consequences of the insulin resistance syndrome. Whether this includes abnormalities in fibrinolysis has not been studied.Methods and results. Healthy subjects (n = 165; 85 men and 80 women) from the Northern Sweden MONICA population were investigated. Anthropometric measurements, oral glucose tolerance tests and sampling for plasma leptin, lipids, fibrinogen and fibrinolytic variables were made. Leptin levels were 342% higher in women than in men and were in both sexes strongly correlated to body mass index (BMI). After adjustments for age and BMI, leptin levels correlated significantly to pre/post glucoseload insulin levels in both sexes. After further adjustment for baseline insulin levels, leptin levels were in males significantly associated with increased waist circumference (P < 0.001), low HDL cholesterol (P < 0.05), low tPA activity (P < 0.01) and high PAI‐1 activity (P < 0.001). In postmenopausal females, a significant association between leptin and low tPA activity/high PAI‐1 activity was seen after adjustment for age and BMI (P < 0.05).Conclusions. Circulating levels of leptin are associated with components of the insulin resistance syndrome, including defective fibrinolysis, in men and postmenopausal women. This suggests that leptin may be involved in the mediation of consequences of insulin resistance.
Aetiology of fever in patients with acute stroke *
Authors: Georgilis K. , Plomaritoglou A. , Dafni U. , Bassiakos Y. , Vemmos K. 
Published: March 2003

Georgilis K, Plomaritoglou A, Dafni U, Bassiakos Y, Vemmos K (University of Athens School of Medicine, ‘Alexandra’ Hospital, Athens, Greece; Harvard School of Public Health, Boston, Massachusetts; and the National School of Public Health, Athens, Greece). Aetiology of fever in patients with acute stroke. J Intern Med 1999; 246: 203–209.Objective. Fever in patients with acute stroke is usually related to infectious complications. In some cases, a focus of infection cannot be identified, fever does not respond to empirical antibiotic treatment and is thought to be due to the central nervous system lesion. The aim of this study was to determine the frequency and origin of fever in patients with acute stroke and the characteristics associated with the presence of fever.Design. A retrospective study of 36 months’ duration.Setting. The study was carried out at ‘Alexandra’ Hospital, a tertiary care teaching centre in Athens, Greece.Subjects. A total of 330 patients hospitalized for acute stroke from June 1992 until July 1994.Results. In 37.6% of 330 patients, fever was noted; 22.7% had a documented infection and 14.8% had fever without a documented infection. In univariate analysis, older age was associated with the presence of fever (P = 0.001). The development of fever was associated with intracerebral haemorrhage versus ischaemic infarct (P < 0.001) and with the presence of mass effect (P < 0.001), transtentorial herniation (P < 0.001), intraventricular blood (P < 0.001), and larger size of ischaemic infarct (P = 0.0001) and of haemorrhage (P = 0.0002). Patients with fever had lower scores on admission on the Glasgow Coma Scale (P = 0.0001) and the Scandinavian Stroke Scale (P = 0.0001). The development of fever was associated with prior use of an invasive technique (P < 0.001) and more specifically with urinary catheterization (P < 0.001), but not with the presence of risk factors for infection. Patients with fever had a worse outcome assessed by the Modified Rankin Scale (P = 0.0001) and the Barthel Index (P = 0.0001). In multivariate analysis, age, Scandinavian Stroke Scale score and mass effect were found to be significantly associated with fever (P = 0.035, P = 0.0001 and P = 0.0004, respectively). Patients with fever without documented infection had an earlier onset of fever than those with infection (P = 0.0061). In a logistic regression analysis, the only factor predictive of fever without documented infection versus infection was earlier onset of fever
(P = 0.029).Conclusion. Patients with acute stroke who develop fever are older, suffer severe stroke, their fever is associated with the use of invasive techniques, and they have a poor outcome. In patients with fever without a focus of infection, the only characteristic that is different from patients with known infection is earlier onset of fever.
Effects of age, gender and metabolic factors on endothelium‐dependent vasodilation: a population‐based study
Authors: Sarabi M. , Millgård J. , Lind L. 
Published: March 2003

Abstract. Sarabi M, Millgård J, Lind L (University Hospital, Uppsala, Sweden). Effects of age, gender and metabolic factors on endothelium‐dependent vasodilation: a population‐based study. J Intern Med 1999; 246: 265–274.Objectives. A progressive decline in endothelium‐dependent vasodilation (EDV) in the human forearm with age has previously been reported. The aim of this study was to evaluate the interplay between age, gender and metabolic factors on EDV in healthy subjects in a population‐based study.Setting. Tertiary university hospital.Subjects and design. Thirty‐six healthy men and 30 women, aged 20–69 years, underwent measurements of forearm blood flow (FBF) at rest and during local infusions of 2 and 4 µg min–1 of metacholine (evaluating EDV) and 5 and 10 µg min–1 of sodium nitroprusside (evaluating endothelium‐independent vasodilation, EIDV) and during reactive hyperaemia by venous occlusion plethysmography.Results. Age was inversely related to EDV (r = – 0.41, P < 0.05 in men; r = – 0.61, P < 0.01 in women) and maximal FBF during reactive hyperaemia in both men and women. EIDV was significantly related to age in an inverse way in women only. EDV was more pronounced in females than in males before menopause (48 ± 3 SD years, 635 ± 186 vs. 502 ± 269% in males, P < 0.05), but similar in women and men thereafter (374 ± 141 vs. 370 ± 185% in men). The slope of the regression line for the relationship between age and EDV was flatter in premenopausal than in postmenopausal women (– 2.3 vs. – 6.4), whilst this slope was similar in younger and older men (– 5.5 vs. – 5.3). In multiple regression analysis, fasting blood glucose levels and the waist/hip ratio remained the only significant predictors of EDV in men (P < 0.01 for both), whilst age was the only significant independent predictor of EDV in women (P < 0.01).Conclusion. The interplay between age and metabolic factors as determinants of endothelial function is different in healthy men and women.
Hyperhomocysteinaemia is not related to risk of distal somatic polyneuropathy: The Hoorn Study
Authors: Hoogeveen E. K. , Kostense P. J. , Valk G. D. , Bertelsmann F. W. , Jakobs C. , Dekker J. M. , Nijpels G. , Heine R. J. , Bouter L. M. , Stehouwer C. D. A. 
Published: March 2003

Abstract. Hoogeveen EK, Kostense PJ, Valk GD, Bertelsmann FW, Jakobs C, Dekker JM, Nijpels G, Heine RJ, Bouter LM, Stehouwer CDA (University Hospital Vrije Universiteit, Amsterdam). Hyperhomocysteinaemia is not related to risk of distal somatic polyneuropathy: The Hoorn Study. J Intern Med 1999; 246: 561–566.Objective. Distal somatic polyneuropathy is a major contributing factor in the pathogenesis of chronic foot infections and ulcers, and may lead to lower limb amputations. Both metabolic and vascular abnormalities may contribute to the development of impaired nerve function. We therefore assessed the association between hyperhomocysteinaemia, a risk factor for cardiovascular disease, and polyneuropathy.Design, setting and subjects. We studied an age‐, sex‐ and glucose‐tolerance‐stratified random sample of a 50‐ to 75‐year‐old general Caucasian population in the Hoorn Study (N = 629). Any polyneuropathy (N = 95) was defined as the absence of at least two of the three following sensory modalities or reflexes of either foot: light touch sense, ankle reflex and vibration sensation. Definite polyneuropathy (N = 25) was present if, in addition, the vibration perception threshold of the right big toe was abnormal.Results. The prevalence of any polyneuropathy was 12.4% (33 of 266) in subjects with normal glucose tolerance (NGT), 12.6% (21 of 167) in those with impaired glucose tolerance (IGT), and 25.3% (41 of 162) in those with type 2 diabetes. The prevalence of definite polyneuropathy was 2.6% (7 of 266) in subjects with NGT, 2.4% (4 of 167) in those with IGT and 8.7% (14 of 161) in type 2 diabetic subjects. Polyneuropathy was associated with known risk factors such as diabetes, hyperglycaemia and body height. After adjustment for age, sex, HbA1c and hypertension, the odds ratio (95% CI) for any polyneuropathy per 5 µmol L–1 (about 1 SD) serum total homocysteine increment was 1.00 (0.72–1.39). After adjustment for age and sex, it was 0.62 (0.21–1.89) for definite polyneuropathy.Conclusion. Although a weak relation (as judged from the confidence intervals) cannot be excluded, we conclude that hyperhomocysteinaemia is probably not related to risk of distal somatic polyneuropathy.