bluuebunny/crossref_metadata_2025_split huggingface dataset:
Cued recall in early‐stage dementia in adults with Down's syndrome
Authors: Devenny D. A. , Zimmerli E. J. , Kittler P. , Krinsky‐McHale S. J. 
Published: March 2003

AbstractBackgroundMemory declines were evaluated with an adaptation of the Cued Recall Test (CRT) in 19 adults with Down's syndrome (DS) with mild or moderate intellectual disability (ID) who were at an early‐stage of dementia of the Alzheimer type (DAT), and their performance was compared to peer groups of 75 adults with DS and 66 adults with ID without DS who were not suspected of functional declines.MethodThe CRT consisted of a training period in which 12 items were presented, four at a time, with each item accompanied by a unique category cue. The testing phase consisted of three trials which generated two measures, a free recall score (FRS; spontaneous recall of the list of 12 items) and a total score (TS; FRS plus items recalled when the category cue was provided).ResultsIt was found that a cut‐off value of ≤ 23 on the TS resulted in a sensitivity of 94.7% and a specificity of 93.9% with a positive predictive value of 81.9% when those individuals with DAT were compared to the participants with ID without DS. Eight of these individuals with DAT had relatively poor performance on the CRT compared to their healthy peers at a baseline when they were not suspected of functional declines, suggesting that memory declines can occur several years prior to the identification of DAT. In addition, 17 participants with DS without a diagnosis of DAT met the criterion for the cut‐off score. Longitudinal data and converging measures indicated that there was the possibility that 15 of these individuals are in a ‘pre‐clinical’ stage of decline.ConclusionThe usefulness of the CRT as a screening test for early memory deficits for this population needs to be confirmed by following these participants for an extended period of time and by studying an independent sample.
The value of QT interval dispersion for identification of total mortality risk in non‐insulin‐dependent diabetes mellitus
Authors: Sawicki  , Kiwitt  , Bender  , Berger  
Published: March 2003

Sawicki PT, Kiwitt S, Bender R, Berger M (Heinrich‐Heine University of Düsseldorf, Düsseldorf; Germany). The value of QT interval dispersion for identification of total mortality risk in non‐insulin‐dependent diabetes mellitus. J Intern Med 1998; 243: 49–56.ObjectivesTo delineate different risk markers including the difference between the maximum and the minimum length of the QT interval in ECG corrected for heart rate (QTc dispersion) as predictors of total, cardiac and cerebrovascular mortality in NIDDM patients.DesignCase‐control, follow‐up study until death or for a period of 15 to 16 years.SettingTertiary care centre, University Hospital of Düsseldorf, Germany.Subjects216 unselected consecutive NIDDM patients.Main outcome measuresTotal, cardiac, and cerebrovascular mortality.ResultsDuring the follow‐up 158 (73%) patients died. In the Cox proportional hazards model QTc dispersion was the most important independent predictor of total mortality (risk ratio (RR) 3.3; difference for RR: 0.05 s1/2; P= 0.001). Additional independent risk markers were age, male sex, systolic blood pressure, diabetic retinopathy, micro‐ or macroproteinuria, total serum cholesterol and HDL cholesterol. The QTc dispersion was also an independent predictor of cardiac and cerebrovascular mortality.ConclusionsThe results of this long‐term follow‐up study indicate that QT dispersion in a routine ECG is a useful marker to identify NIDDM patients with a high mortality risk.
Primary gastrointestinal non‐Hodgkin's lymphoma in adults: a population‐based clinical and histopathologic study
Authors: Hansen P. B. , Vogt K. C. , Skov R. L. , Pedersen‐Bjergaard U. , Jacobsen M. , Ralfkiaer E. 
Published: March 2003

Abstract. Hansen PB, Vogt KC, Skov RL, Pedersen‐Bjergaard U, Jacobsen M, Ralfkiaer E (Herlev Hospital, University of Copenhagen and Gentofte Hospital, University of Copenhagen, Denmark). Primary gastrointestinal non‐Hodgkin's lymphoma in adults: a population‐based clinical and histopathologic study. J Intern Med 1998; 244: 71–8.ObjectivesTo analyse the clinical course and the histopathology of primary gastrointestinal non‐Hodgkin's lymphoma (GI‐NHL) in adult patients and to investigate a possible impact of Helicobacter pylori.Design/settingRetrospective study of all adult patients in Copenhagen county diagnosed during a6‐year period with NHL.SubjectsA total of 55 patients with GI‐NHL diagnosed during the period from 1985 to the end of 1990.ResultsTwenty‐eight patients had primary lymphoma in the stomach, 14 in the small intestine, 11 in the large intestine and two patients had multifocal involvement. The dominant presenting symptoms were abdominal pain, weight loss, diarrhoea, constipation and fatigue. Acute emergency problems such as severe haemorrhage or perforation at initial presentation were unusual. According to the revised European‐American lymphoma (REAL) classification, diffuse large B‐cell lymphoma was the most frequent histologic subtype comprising 53% of the cases. Helicobacter pylori infection was documented in 15 of 25 evaluable patients (60%) with gastric lymphomas and was not associated with any specific histological subtype. Endoscopic procedures and barium X‐rays were the diagnostic approaches with highest sensitivity. In total, 30 patients (58%) achieved complete remission, 10 (19%) achieved partial remission, and 12 (23%) did not respond to treatment. The overall 5 year survival rate was 0.36 without statistically significant difference between the histological subtypes. Likewise the presence of Helicobacter pylori did not affect survival.ConclusionPrimary GI‐NHL is a heterogeneous disease entity with considerable therapeutic controversies. No specific clinical or histological phenotype was associated with the presence of Helicobacter pylori.
Molecular genetic analysis of von Hippel–Lindau disease
Authors: Richards  , Webster  , Mcmahon  , Woodward  , Rose  , Maher  
Published: March 2003

Richards FM, Webster AR, McMahon R, Woodward ER, Rose S, Maher ER (Birmingham University; Birmingham Women's Hospital, Birmingham; Addenbrooke's Hospital, Cambridge; Cambridge University, Cambridge, UK). Molecular genetic analysis of von Hippel–Lindau disease (Minisymposium: MEN & VHL). J Intern Med 1998; 243: 527–33.Von Hippel–Lindau (VHL) disease is a dominantly inherited multisystem family cancer syndrome predisposing to retinal and central nervous system haemangioblastomas, renal carcinoma, phaeochromocytoma, pancreatic islet cell tumours and endolymphatic sac tumours. In addition, renal, pancreatic and epididymal cysts occur. Morbidity and mortality from VHL disease can be reduced by the identification and surveillance of affected individuals and at‐risk relatives so that compli‐cations are diagnosed at an early presymptomatic stage. The detailed mapping and subsequent isolation of the VHL tumour suppressor gene has enabled molecular genetic analysis in families and patients with definite or possible VHL disease. Initially, linked DNA markers were used in informative families to modify individual risks and then to make appropriate alterations in surveillance programs. However, currently most DNA analysis involves the characterisation of germline mutations. World‐wide, mutations have been identified in almost 500 families (including 132 in our laboratory). These studies have revealed considerable heterogeneity both in the type and in the location of mutations within the VHL gene. In our experience, most recurrent mutations result from de novo mutations at hypermutable sequences, although a founder effect for the Tyr98His ("Black Forest') mutation has been reported in German and American families. Although many mutations are predicted to impair the ability of pVHL to combine with the elongin regulatory subunits, analysis of genotype–phenotype relationships suggests that the VHL protein has multiple and tissue specific functions. Calculation of tumour risks for different classes of VHL mutations has provided important prognostic information especially with respect to the likelihood of phaeochromocytoma. However, there is evidence that retinal involvement does not correlate with allelic heterogeneity, but that the variability in retinal angiomatosis is influenced by modifier gene effects. VHL gene mutation analysis also provides a basis for investigating the genetic basis of familial phaeochromocytoma and renal cell carcinoma, and apparently isolated retinal angiomas. Results to date suggest that a substantial proportion of patients with familial pheochromocytoma have VHL gene mutations but in contrast, most familial clusters of clear cell renal cell carcinoma (RCC) without evidence of VHL do not have germline VHL mutations.
Afternoon serum‐melatonin in sleep disordered breathing
Authors: Ulfberg  , Micic  , Strøm  
Published: March 2003

Ulfberg J, Micic S, Strøm J (Sleep Laboratory, Department of Internal Medicine, Avesta Hospital, Sweden, Department of Biotechnology, Statens Seruminstitut, Copenhagen, Denmark and the Department of Anaesthesiology, Glostrup University Hospital, Copenhagen, Denmark). Afternoon serum‐melatonin in sleep disordered breathing. J Intern Med 1998; 244: 163–8.ObjectivesTo study afternoon serum‐melatonin values in patients with sleep disordered breathing. Melatonin has a strong circadian rhythm with high values during the night‐time and low values in the afternoon. Sleep disordered breathing may change the circadian rhythm of melatonin which may have diagnostic implications.SettingThe Sleep Laboratory, The Department of Internal Medicine, Avesta Hospital, Sweden, and the Department of Anaesthesiology, Glostrup University Hospital, Copenhagen, Denmark.SubjectsWe examined 60 consecutive patients admitted for sleep disordered breathing and 10 healthy non snoring controls. The patients underwent a sleep apnoea screening test having a specificity of 100% for the obstructive sleep apnoea syndrome (OSAS) using a combination of static charge sensitive bed and oximetry. Obstructive sleep apnoea syndrome was found in 49 patients, eight patients had borderline sleep disordered breathing (BSDB) and three patients were excluded due to interfering disease.Main outcome measuresPatients and controls had an afternoon determination of serum‐melatonin. The Epworth Sleepiness Scale was used to score daytime sleepiness.ResultsIn comparison with normal controls patients suffering from OSAS had significantly higher serum‐melatonin levels in the afternoon. However, as a diagnostic test for OSAS in patients with sleep disordered breathing serum‐melatonin showed a low sensitivity but a high specificity. The results indicate that breathing disorders during sleep in general affect pineal function.ConclusionsSleep disordered breathing seems to disturb pineal function. Determination of afternoon serum‐melatonin alone or together with a scoring of daytime sleepiness does not identify OSAS‐patients in a heterogeneous population of patients complaining of heavy snoring and excessive daytime sleepiness.
A genetic polymorphism in connexin 37 as a prognostic marker for atherosclerotic plaque development
Authors: Boerma M. , Forsberg L. , Van Zeijl L. , Morgenstern R. , De Faire U. , Lemne C. , Erlinge D. , Thulin T. , Hong Y. , Cotgreave I. A. 
Published: March 2003

Abstract. Boerma M, Forsberg L, van Zeijl L, Morgenstern R, de Faire U, Lemne C, Erlinge D, Thulin T, Hong Y, Cotgreave IA (Karolinska Institute and Karolinska Hospital, Stockholm; Lund University, Lund, Sweden. Washington University School of Medicine, MO, USA). A genetic polymorphism in connexin 37 as a prognostic marker for atherosclerotic plaque development. J Intern Med 1999; 246: 211–218.Background and objectives. Atherosclerosis is a multifactorial disease, in part characterized by chronic inflammatory changes in the vessel wall and loss of normal physical and biochemical interactions between endothelial cells and smooth muscle cells. Previous studies [Hu J., Cotgreave IA. J Clin Invest;99: 1–5] have provided molecular links between inflammation and myoendothelial communication via gap junctions, suggesting that these structures may be important in the development of the atherosclerotic vessel phenotype. In order to strengthen this premise, the aim of the present work was to probe for structural polymorphisms in connexin 37, a gap junctional protein uniquely expressed in endothelial cells, and to assess for potential genotypic segregation in individuals displaying atherosclerotic plaque.Methods and results. Computer‐based comparisons of Expressed Sequence Tags (ESTs) predicted a polymorphism in the human gap junctional protein connexin 37 (cx37). The C1019‐T mutation results in a proline to serine shift at codon 319 (cx37*1–cx37*2). A Restriction Fragment Length Polymorphism (RFLP) assay, involving the insertion of a novel Drd I cleavage site in the proline variant revealed a statistically significant over‐representation of the cx37*1 allele in association with atherosclerotic plaque‐bearing individuals (Odds‐ratio for the homozygote = 2.38, Χ2 = 7.693, P = 0.006), in comparison to individuals lacking plaque, irrespective of a history of hypertension.Conclusions. These data suggest that the C1019‐T polymorphism in cx37 may provide ‘single gene marker’, which could be useful in assessing atherosclerotic plaque development, particularly in cardiovascular risk groups such as those with borderline hypertension.
Signs of neuropathy in the lower legs and feet of patients with acute intermittent porphyria
Authors: Wikberg A. , Andersson C. , Lithner F. 
Published: March 2003

Abstract. Wikberg A, Andersson C, Lithner F (University of Umeå, Umeå; Primary Health Care Centre, Arjeplog; and University Hospital, Umeå, Sweden). Signs of neuropathy in the lower legs and feet of patients with acute intermittent porphyria. J Intern Med 2000; 248: 27–32.Objective. To assess signs of distal neuropathy in patients with acute intermittent porphyria (AIP).Design. A population‐based study.Subjects. All patients with DNA‐verified AIP ≥ 18 years of age in the four most northerly counties of Sweden.Intervention. Validated neuropathic signs and tests such as monofilament test, neuropathic pain, dry feet, extensor digitorum brevis (EDB) test, loss of forefoot arch, hammer toes and ulceration.Results. A total of 356 patients were registered and 339 of them (95%) participated in the neuropathy study. The chronic neurological signs were symmetrical and similar to those in type 1 diabetic patients. Significant impairment was found concerning perception, EDB test, lower leg pain, ankle and knee tendon reflexes, but not concerning dry feet, loss of forefoot arch and hammer toes, on comparing patients with manifest versus latent AIP. The neurological signs were more severe in the diabetic patients (n = 298). Five AIP patients had permanent quadriplegia after severe attacks.Conclusions. Patients with manifest AIP had significantly more signs of distal chronic, symmetrical neuropathy of axonal type than did patients with latent AIP. More grave neurological lesions appear to develop after severe attacks.
Gamma‐glutamyl transpeptidase and the metabolic syndrome
Authors: Rantala A. O. , Lilja M. , Kauma H. , Savolainen M. J. , Reunanen A. , Kesäniemi Y. A. 
Published: March 2003

Abstract. Rantala AO, Lilja M, Kauma H, Savolainen MJ, Reunanen A, Kesäniemi YA (University of Oulu, Oulu; and The National Public Health Institute, Helsinki, Finland). Gamma‐glutamyl transpeptidase and the metabolic syndrome. J Intern Med 2000; 248: 230–238.Objective. To analyse the associations between serum gamma‐glutamyl transpeptidase activity (GTP) and the components of the metabolic syndrome.Design. Cross‐sectional, observational study of hypertensive patients and controls.Setting. The participating subjects visited the research laboratory of the Department of Internal Medicine, University of Oulu, Oulu, Finland.Subjects. A total of 1045 Caucasians, 40–59 years of age, consisting of 261 drug‐treated hypertensive men, 258 drug‐treated hypertensive women and 526 age‐ and sex‐matched controls.Main outcome measures. The associations between GTP and the cardiovascular risk factors were analysed through multiple regression and logistic methods and by GTP tertiles. The independent effect of GTP on different insulin measures, calculated from the values of 2 h of oral glucose tolerance test, was estimated after concurrent adjustment for age, obesity and alcohol consumption.Results. GTP correlated highly significantly with the components of the metabolic syndrome. The correlation coefficient were 0.33 between GTP and body mass index, 0.25 between GTP and systolic blood pressure in control men (P = 0.0001), 0.39 between GTP and triglycerides, and 0.32 between GTP and fasting insulin in hypertensive women (P = 0.0001). The association between GTP and blood pressure remained significant only at upright measurements in controls. All insulin measures had a significant positive association with increasing GTP tertiles in all the study groups (e.g. fasting insulin 8.1 mU L–1 in the lowest and 11.0 mU L–1in the highest tertile in control women, P = 0.0001), with the exception of fasting insulin in control men. In a pooled logistic analysis after adjustment for age, body mass index, alcohol consumption and gender, the independent predictors of the metabolic syndrome were body mass index, uric acid, total cholesterol and GTP (for log‐transformed GTP odds ratio 4.0, 95% CI: 2.80–5.69).Conclusions. There are significant associations between GTP and the components of the metabolic syndrome. Elevated levels of GTP may not always indicate increased alcohol consumption, but may also suggest the existence of the metabolic syndrome with its subsequent deleterious consequences.
Are patients truthful about their smoking habits? A validation of self‐report about smoking cessation with biochemical markers of smoking activity amongst patients with ischaemic heart disease
Authors: From Attebring M. , Herlitz J. , Berndt A.‐K. , Karlsson T. , Hjalmarson A. 
Published: March 2003

Abstract. From Attebring M, Herlitz J, Berndt A‐K, Karlsson T, Hjalmarson A (Division of Cardiology, Sahlgrenska University Hospital, Göteborg, Sweden). Are patients truthful about their smoking habits? A validation of self‐report about smoking cessation with biochemical markers of smoking activity amongst patients with ischaemic heart disease. J Intern Med 2001; 249: 145–151.Aim. To validate self‐report about smoking cessation with biochemical markers of smoking activity amongst patients with ischaemic heart disease.Patients and methods. Outpatients at the Division of Cardiology, 75 years of age or younger, who had been Hospitalized at Sahlgrenska University Hospital in Göteborg due to an ischaemic event and who consecutively participated in a nurse‐monitored routine care programme for secondary prevention, from 6 February 1997 to 5 February 1998. Data concerning smoking habits were collected through interviews. Two chemical markers, cotinine in plasma and carbon monoxide (CO) in expired air, validated self‐reports concerning smoking cessation.Results. 260 former smokers were validated. In the vast majority of the study population, the anamnestic information concurred with the chemical marker. However, 17 patients had chemical markers that contradicted their self‐report with raised CO (n = 6) and/or raised cotinine levels (n = 13) without alternative nicotine delivery.Conclusion. Most patients with coronary artery disease relating information concerning cessation of smoking are truthful. A few patients, however, seem to conceal their smoking. Testing by chemical markers may be questionable for ordinary care but should, however, be included in studies concerning the association between smoking and health.
Effect of plant sterol‐enriched margarine on plasma lipids and sterols in subjects heterozygous for phytosterolaemia
Authors: Stalenhoef A. F. H. , Hectors M. , Demacker P. N. M. 
Published: March 2003

Abstract. Stalenhoef AFH, Hectors M, Demacker PNM (University Medical Centre Nijmegen, Nijmegen, The Netherlands). Effect of plant sterol‐enriched margarine on plasma lipids and sterols in subjects heterozygous for phytosterolaemia. J Intern Med 2001; 249: 163–166. Objective. Margarine with added plant sterols lowers plasma cholesterol levels. It is of importance to know whether these margarines can be used safely in carriers of a hereditary disorder with increased absorption of plant sterols. Design. In an open feeding study of 8 weeks with a 2‐week run‐in period and 2 final weeks as a washout period on control margarine (0.3% plant sterols), two obligate heterozygous parents of a patient with classical sitosterolaemia were subjected for 4 weeks to a diet containing margarine enriched with plant sterols (8%). Fasting blood samples were taken weekly. Primary outcomes were plasma lipid and lipoprotein levels and plant sterol levels. Results. Both parents were hyperlipidaemic. Total plasma cholesterol levels were decreased by 11 and 12%, respectively, after 4 weeks of the consumption of 40 g day−1 of plant sterol‐enriched margarine. This was mainly due to changes in LDL‐cholesterol, whereas the other lipoproteins, including lipoprotein(a), were unaffected. Total plant sterol levels increased maximally 139% from 0.31 to 0.82% of total sterols in the father, and maximally 83% from 0.32 to 0.66% of total sterols in the mother. Conclusion. An intake of around 3 g day−1 of plant sterols by subjects heterozygous for phytosterolaemia increased campesterol or sitosterol levels in blood to similar levels as found in normal subjects. In addition, plasma cholesterol levels were reduced to the same extent as in normal or hypercholesterolaemic individuals.
Clinical outcome of patients with suspected pulmonary embolism. A follow‐up study of 588 consecutive patients
Authors: Poulsen S. Hvitfeldt , Noer I. , Møller J. E. , Knudsen T. E. , Frandsen J. Lundbye 
Published: March 2003

Abstract. Poulsen SH, Noer I, Møller JE, Knudsen TE, Frandsen JL (Randers Hospital and Svendborg Hospital, Denmark). Clinical outcome of patients with suspected pulmonary embolism. A follow‐up study of 588 consecutive patients. J Intern Med 2001; 250: 137–143. Objective. To investigate the clinical outcome in patients with clinically suspected pulmonary embolism (PE). Design and setting. In a retrospective design we studied 588 consecutive patients with suspected PE and referred for lung scintigraphy from 1995 to 1998. The mean follow‐up time was 653 ± 424 days. Results. The diagnosis of PE was confirmed in 194 and excluded in 394 patients, respectively. The overall prevalence of PE was 33%. Amongst clinical and paraclinical variables, age, chronic obstructive pulmonary disease (COPD), heart rate, pleuretic pain, presence of deep venous thrombosis (DVT), electrocardiographic signs of right ventricular (RV) strain were identified as independent predictors of the diagnosis of PE. Amongst patients with PE anticoagulation was given in 96% for at least 3 months and 13% received thrombolytic therapy. Recurrent PE was seen in 6% of patients with PE whereas none of the patients with no diagnosis of PE suffered PE during follow‐up. The 1 year mortality was 18% amongst patients with PE and 15% in patients with excluded PE (P=NS). The cause of death amongst patients with PE was cancer (49%) and PE (28%), whereas patients without PE had an excess mortality because of cancer, COPD, acute myocardial infarction and heart failure. Conclusion. Patients admitted to hospital on suspicion of PE have increased risk of adverse clinical outcome whether the diagnosis of PE is confirmed or not. This indicates that the patients where the diagnosis is excluded often suffer from other serious illness that warrants further investigations.