bluuebunny/crossref_metadata_2025_split huggingface dataset:
Sedation effects on responsiveness: evaluating the reduction of antipsychotic medication in people with intellectual disability using a conditional probability approach
Authors: Smith C. , Felce D. , Ahmed Z. , Fraser W. I. , Kerr M. , Kiernan C. , Emerson E. , Robertson J. , Allen D. , Baxter H. , Thomas J. 
Published: March 2003

AbstractBackgroundThe impact of the withdrawal of long‐term antipsychotic medication prescribed to adults with intellectual disabilities on behavioural functioning has been investigated using a real‐time direct observation methodology. Previous authors have reported a significant post‐reduction difference in engagement in activity between the successful drug reduction and control groups.MethodIn the present study, sequential analysis of the relationship between staff:resident interaction and behavioural engagement was used to give a more precise measure of the extent to which user responsiveness is affected by drug withdrawal. Responsiveness was measured by calculating the likelihood of engagement occurring given the occurrence of staff interaction. This likelihood was represented by the statistic Yule's Q‐value.ResultsHigh Yule's Q‐value results pre‐ and post‐baseline were found, indicating that clients were highly responsive to staff interaction. However, Yule's Q‐value did not significantly increase following drug withdrawal.ConclusionThe present study provides no evidence of greater responsiveness following the withdrawal of psychotropic medication.
Life satisfaction of people with intellectual disability living in community residences: perceptions of the residents, their parents and staff members
Authors: Schwartz C. , Rabinovitz S. 
Published: March 2003

Abstract Background Within the literature on quality of life (QoL), life satisfaction (LS) has emerged as a key variable by which to measure perceived well‐being, which is referred to as subjective QoL. The LS self‐reports of 93 residents with intellectual disability (ID) living in community‐based residences were compared with reports about their LS completed by their staff and parents. Method The residents were interviewed on their LS by social workers who did not belong to the staff of the interviewee's residence. The instrument used was the Life Satisfaction Scale (LSS). Staff and parents completed the short version of the LSS. Results Residents and staff's LS reports were positively correlated. However, significant differences were found between these two groups of informants when the residents were characterized as high functioning, had a low score in challenging behaviour, worked in an integrative employment setting and lived in an apartment. As opposed to staff/resident discrepancies, no differences were found between parents’ and residents’ LS reports. Conclusions If residents cannot to be interviewed about their LS, then the parent is the preferred person to respond on behalf of the resident. The current study highlights the importance of including both objective measures (e.g. functional assessment characteristics) and subjective measures (e.g. LS) in order to get a better understanding of the QoL of people with ID.
Magnetic resonance imaging, Down's syndrome and Alzheimer's disease: research and clinical implications
Authors: Prasher V. , Cumella S. , Natarajan K. , Rolfe E. , Shah S. , Haque M. S. 
Published: March 2003

AbstractBackgroundThe diagnosis of Alzheimer's disease (AD) remains at times difficult to make using available neuropsychological measures. Neuro‐imaging is a relatively new form of detecting the changes associated with dementia. The present study investigated the role of magnetic resonance imaging (MRI) in diagnosing AD in adults with Down's syndrome (DS).MethodsSubjects with DS and Alzheimer‐type dementia were matched to non‐demented controls with DS. Magnetic resonance imaging findings (i.e. volumetric and two‐dimensional scans) were compared between the two groups in order to show a relationship between the changes of AD and structural MRI abnormalities.ResultsSpecific structural abnormalities which are seen in non‐intellectually disabled subjects with dementia are also found in individuals with both DS and AD. However, such findings cannot be used to diagnose clinical AD with good accuracy in adults with DS. A number of practical issues of patient compliance and over‐sedation are demonstrated by the findings.ConclusionsMagnetic resonance imaging has an important but limited role to play in the management of AD in the population with DS. If intravenous sedation is used, medical support is essential to prevent a serious mishap.
Low molecular weight heparin‐induced skin necrosis occurring distant from injection sites and without thrombocytopenia
Authors: Tietge  , Schmidt  , JÄckel  , Trautwein  
Published: March 2003

Tietge UJF, Schmidt HH‐J, Jäckel E, Trautwein C, Manns MP (Medizinische Hochschule Hannover, Hannover, Germany). Low molecular weight heparin‐induced skin necrosis occurring distant from injection sites and without thrombocytopenia (Case Report). J Intern Med 1998; 243: 313–15.In this paper we report a case of 76‐year‐old white male patient with skin necrosis induced by subcutaneous prophylactic administration of low‐molecular‐weight heparin (LMWH). Skin necrosis occured distant from heparin injection sites and without concomitant thrombocytopenia. This is the first reported case presenting these clinical findings.
Association of multiple endocrine neoplasia type 2 and Hirschsprung disease
Authors: Romeo  , Ceccherini  , Celli  , Priolo  , Betsos  , Bonardi  , Seri  , Yin  , Lerone  , Jasonni  , Martucciello  
Published: March 2003

Romeo G, Ceccherini I, Celli J, Priolo M, Betsos N, Bonardi G, Seri M, Yin L, Lerone M, Jasonni V, Martucciello G (University of Genoa Medical School, Genoa, Italy; International Agency for Research on Cancer, Lyon, France). Association of multiple endocrine neoplasia type 2 and Hirschsprung disease (Minisymposium: MEN & VHL). J Intern Med 1998; 243: 515–20.In a few patients with Hirschsprung disease (HSCR) and no clinical symptoms of multiple endocrine neoplasia type 2 (MEN‐2A) or medullary thyroid carcinoma (MTC), missense mutations in the cysteine residues 609 and 620 of the Ret gene have been identified. In several pedigrees with either MEN‐2A or familial MTC (FMTC) a documented germline mutation in cysteine 618 or 620 follows the segregation of the disease phenotype. The appearance of the HSCR phenotype in such patients and pedigrees cannot be easily reconciled with the gain of function which is associated with the dominant oncogenic effect of MEN‐2A mutations. Gastrointestinal manifestations are known to occur also in association with MEN‐2B but, to the best of our knowledge, in only very few cases the intestinal phenotype of MEN‐2B has been investigated by enzymo‐histochemical techniques, as in the present work. We report an extensive molecular study of patients, two with HSCR and FMTC carrying a Cys620Arg or Ser mutation and two with MEN‐2B and gastrointestinal symptoms carrying a Met918Thr mutation. One of the latter two patients showed aganglionosis of the last 5 cm of rectum which caused a congenital megacolon leading to the diagnosis and operation for HSCR. The mutation screening of all the exons of Ret in 3 of these patients did not reveal any additional mutation. Therefore these results do not support the hypothesis of additional constitutional Ret mutations in patients showing association of MEN‐2 and HSCR, whilst the histochemical and clinical data in one of these patients indicate that MEN‐2B can be associated with a true form of short segment HSCR.
The spectrum of hepatobiliary disease in primary hypogammaglobulinaemia
Authors: Bjøro K. , Haaland T. , Skaug K. , Frøland S. S. 
Published: March 2003

Abstract.Objective.  To study the prevalence of hepatobiliary disease in a clinically and immunologically well‐characterized group of 88 adult Norwegian patients with primary hypogammaglobulinaemia.Subjects.  Eighty‐eight patients with primary hypogammaglobulinaemia were followed and signs and symptoms of liver disease were recorded. The patients were examined clinically and radiologically on a regular basis with liver biopsies performed when indicated. All patients were tested for hepatitis C virus (HCV) RNA, hepatitis G virus (HGV) RNA and hepatitis B virus (HBsAg).Results.  Twenty‐one patients were HCV RNA‐positive, all having signs of chronic liver disease. Only four patients were HGV RNA‐positive, of whom two were also HCV RNA‐positive. Amongst the 67 HCV RNA‐negative patients, 26 had signs of chronic liver disease, including two who were HGV RNA‐positive. HCV RNA‐negative patients with liver disease had received intravenous immune globulin substitution more frequently, had a longer history of any form of immune globulin substitution and had a greater incidence of common variable immunodeficiency than patients without signs of liver disease. In most cases (21 of 26 patients) the liver disease was relatively mild. Three patients had granulomatous liver disease, with a relatively aggressive course in all three.Conclusion.  Hepatobiliary disease is a frequent complication in primary hypogammaglobulinaemia. Liver disease in HCV RNA‐negative patients usually has a mild course. HGV does not seem to be a major cause of chronic liver disease in these patients.
Leptin and its potential role in human obesity
Authors: Lönnqvist F. , Nordfors L. , Schalling M. 
Published: March 2003

Abstract. Lönnqvist F, Nordfors L, Schalling M (Karolinska Institute at Huddinge University Hospital and Karolinska Hospital, Stockholm, Sweden). Leptin and its potential role in human obesity. (Minisymposium: Genetics & Obesity). J Intern Med 1999; 245: 643–652.Genetic studies in inbred obese mice have revealed the ob gene, its product leptin and the leptin receptor as important factors in the regulation of both appetite and energy expenditure. Treatment with recombinant leptin has resulted in a marked weight reduction in obese animals with ob gene mutations as well as in normal mice. Also mutations in the Ob receptor gene result in marked obesity in rodents. These data have given hope of new treatment options in obesity. Further support of leptin being involved in regulation of obesity in man comes from the observation that inactivating mutations in the human ob gene lead to profound early onset obesity. However, the role of leptin and its feedback system in man is still only partly revealed. This review focuses on our present knowledge and hypotheses about the leptin pathway in humans and its potential importance in the clinic of obesity.
Adrenoceptor genes in human obesity
Authors: Arner P. , Hoffstedt J. 
Published: March 2003

Abstract. Arner P, Hoffstedt J (Karolinska Institute, Huddinge Hospital, Stockholm, Sweden). Adrenoceptor genes in human obesity. (Minisymposium: Genes & Obesity). J Intern Med 1999; 245: 667–672.The genes causing obesity in rodent models have been characterized, but do not seem to be important for human obesity. Recently the putative association between obesity and polymorphism in human beta‐adrenergic receptor genes have been studied intensely in the light of the important role of these receptors in the regulation of energy mobilization and utilization. A polymorphism (Trp64Arg) in the beta3‐adrenergic receptor gene is associated with obesity (relative risk ≈ 2) in some but not all investigations on Caucasian and Japanese populations. When expressed in artificial cell systems, the polymorphism is associated with alterations of the beta3‐adrenoceptor. The genetic allele variance influences also the native receptor function when measured in isolated human fat cells. The human beta2‐adrenoceptor gene shows a high degree of polymorphism. The role of beta2‐receptor gene polymorphism for obesity has so far only been investigaed in women. A Gln27Glu variant is markedly associated with obesity with a relative risk for obesity of ≈ 7 and odds ratio of ≈ 10. Women who are homozygous for 27Glu have ≈ 20 kg higher fat mass than controls. Thus, polymorphism in genes coding for different beta‐adrenoceptor subtypes may be important for the development of human obesity.
Menopausal status and risk factors for cardiovascular disease
Authors: Peters H. W. , Westendorp I. C. D. , Hak A. E. , Grobbee D. E. , Stehouwer C. D. A. , Hofman A. , Witteman J. C. M. 
Published: March 2003

Abstract Peters HW, Westendorp ICD, Hak AE, Grobbee DE, Stehouwer CDA, Hofman A, Witteman JCM (Erasmus University Medical School, Rotterdam; Utrecht University, Utrecht; Vrije Universiteit, Amsterdam, The Netherlands). Menopausal status and risk factors for cardiovascular disease. J Intern Med 1999; 246: 521–528.Objectives. Changes in cardiovascular risk factors with menopausal status are difficult to study, owing to the high correlation of menopausal status with age. Therefore we examined cardiovascular risk factors in a meticulously selected population in which the contrast in oestrogen status between pre‐ and postmenopausal women of the same age was maximized.Design. Risk factors were compared in 93 premenopausal and 93 postmenopausal women who were matched on age (range 43–55 years).Setting. The women were selected from respondents to a mailed questionnaire about the menopause, which was sent to all women aged 40–60 years in the Dutch town of Zoetermeer (n = 12 675; response 54%).Subjects. Postmenopausal women who were at least 3 years after menopause or whose menses had stopped naturally before age 48 were age‐matched with premenopausal women with regular menses and without menopausal complaints.Results. Compared to premenopausal women, postmenopausal women had significantly increased levels of total cholesterol (10.0%, 95% confidence interval 5.1–14.0), low density lipoprotein (LDL) cholesterol (14.0%, 6.9–19.9), and apolipoprotein B (8.2%, 0.6–15.5). The difference was present within 3 years after onset of menopause and did not show a trend towards an increase with the number of postmenopausal years. No differences were found in high density lipoprotein (HDL) cholesterol, triglycerides, apolipoprotein A1, blood glucose, insulin, body mass index, waist‐to‐hip ratio, and systolic and diastolic blood pressure.Conclusions. The results of this study add to the evidence that total cholesterol, LDL cholesterol and apolipoprotein B are the primary cardiovascular risk factors affected by menopause.
Recurrent malignant hypertension: a report of two cases and review of the literature
Authors: Spencer C. G. C. , Lip G. Y. H. , Beevers D. G. 
Published: March 2003

Abstract. Spencer CGC, Lip GYH, Beevers DG (City Hospital, Birmingham, UK). Recurrent malignant hypertension: a report of two cases and review of the literature (Case Report). J Intern Med 1999; 246: 513–516.Malignant hypertension (MHT) is a rare and life‐threatening condition which is defined clinically as severe hypertension accompanied by bilateral retinal haemorrhages and/or hard exudates, with or without papilloedema. If untreated, the prognosis of MHT is poor. With MHT being a relatively rare condition, it would be unusual to see it on more than one occasion in the same patient. We describe in detail two cases from a disease register of 400 cases of MHT seen in one medical centre over 33 years.
Influence of protease inhibitor therapy on lipoprotein metabolism
Authors: Berthold H. K. , Parhofer K. G. , Ritter M. M. , Addo M. , Wasmuth J. C. , Schliefer K. , Spengler U. , Rockstroh J. K. 
Published: March 2003

Abstract. Berthold HK, Parhofer KG, Ritter MM, Addo M, Wasmuth JC, Schliefer K, Spengler U, Rockstroh JK (University of Bonn and University of Munich, Germany). Influence of protease inhibitor therapy on lipoprotein metabolism. J Intern Med 1999; 246: 567–575.Objectives. Protease inhibitors are efficient drugs as part of highly active antiretroviral therapy. They have been shown to cause hyper‐ and dyslipoproteinemia. Since antiretroviral therapy is able to delay disease progression and possibly extend life expectancy in HIV‐infected individuals, the precise nature of serum lipid disturbances may become of clinical interest with respect to its atherogenicity and to finding treatment options.Design. We investigated prospectively, in 19 subsequent HIV‐positive male patients (mean age 42 ± 13 years), multiple lipid parameters in plasma, before and during treatment with a protease inhibitor (nelfinavir, ritonavir, or indinavir) and two nucleoside analogue reverse transcriptase inhibitors (NRTI). The median (range) treatment duration was 22 (7–40) weeks. 12 patients were treatment‐naive; 7 had already NRTI medication at baseline.Results. Total cholesterol increased by 28 mg dL–1 (95% CI: + 7 to + 48, baseline 158 ± 53, P = 0.01), triglycerides increased by 96 mg dL–1 (+ 22 to + 170, baseline 152 ± 91, P = 0.014), HDL cholesterol was unchanged, LDL cholesterol was slightly but not significantly elevated, VLDL cholesterol increased by 20 mg dL–1 (+ 9 to + 31, baseline 33 ± 21, P = 0.001), VLDL triglycerides increased by 86 mg dL–1 (+ 22 to + 150, baseline 128 ± 91, P = 0.01). The ratio of total cholesterol to HDL cholesterol increased by 1.2 (+ 0.7 to + 1.7, baseline 4.8 ± 1.5, P = 0.0001) and the ratio of HDL2 to HDL3 decreased by 0.06 (–0.02 to –0.09, baseline 0.47 ± 0.11, P = 0.005). (Conversion factors, mg dL–1 to mmol L–1: 0.0259 for cholesterol, 0.0114 for triglycerides.)Conclusions. The data indicate that the predominant feature of dyslipidemia under protease inhibitors is an increase in triglyceride‐containing lipoproteins. This observation is in accordance with the hypothesis of increased apoptosis of peripheral adipocytes, release of free fatty acids and subsequent increased synthesis of VLDL. The lipid profile, based on the ratio of total cholesterol to HDL cholesterol and the ratio HDL2 to HDL3, is significantly more atherogenic.
Effects of diabetes mellitus on patients with acute intermittent porphyria
Authors: Andersson C. , Bylesjö I. , Lithner F. 
Published: March 2003

AbstractObjectives. To study the effects of diabetes mellitus in patients with acute intermittent porphyria (AIP). Haeme deficiency in the liver of AIP patients stimulates an increase in ALA‐synthase which triggers an escalating metabolic chain reaction, leading to an increase in the porphyrin content. This reaction can be reduced by treating AIP patients with haeme arginate or with glucose.Design. A population‐based study of all patients >18 years of age having DNA‐verified AIP (n = 328) living in the two most northerly counties of Sweden (Norrbotten and Västerbotten, with 550 000 inhabitants) of whom 16 had type 2 diabetes. Prevalence of diabetes was studied retrospectively in 26 AIP patients with hepatocellular carcinoma (HCC).Results. None of the patients showed symptoms of AIP after the onset of their diabetes. Three patients had had recurrent, severe attacks for many years but when their diabetes became manifest, their urinary ALA and PBG levels decreased and the AIP symptoms resolved, to the relief of the patients. Amongst the 26 AIP patients with HCC, only one with signs of diabetes was identified (impaired glucose tolerance test).Conclusions. This study raises the possibility that diabetes mellitus may be beneficial for patients with severe AIP.
Tissue‐type plasminogen activator and C‐reactive protein in acute coronary heart disease. A nested case–control study
Authors: Gram J. , Bladbjerg E.‐M. , Møller L. , Sjøl A. , Jespersen J. 
Published: March 2003

Abstract. Gram J, Bladbjerg E‐M, Møller L, Sjøl A, Jespersen J (Department of Clinical Biochemistry, Ribe County Hospital and the Institute for Thrombosis Research, South Jutland University Centre, Esbjerg, and the Centre of Preventive Medicine, Glostrup University Hospital; Denmark). Tissue‐type plasminogen activator and C‐reactive protein in acute coronary heart disease. A nested case–control study. J Intern Med 2000; 247: 205–212.Objectives. To study the importance of inflammation and fibrinolysis for evolution of ischaemic heart disease in a cohort of initially healthy subjects.Design. Nested case‐control study. Follow‐up periods 7–15 years.Subjects. Included in the study were 133 cases with coronary heart disease and 258 controls.Interventions. None.Main outcome measures. Subjects with ischaemic heart disease identified in 1991 by the Danish National Hospital Register. Protein concentration of C‐reactive protein (CRP) and tissue‐type plasminogen activator (t‐PA) were measured with ELISA methods in stored serum samples.Results. CRP and t‐PA concentrations were both significantly higher in cases than in controls (P < 0.001 and P < 0.001). This difference between cases and controls for CRP and t‐PA was present in both men (CRP: P = 0.022; t‐PA: P = 0.001) and women (CRP: P = 0.013; t‐PA: P = 0.005) and it was present in both the 7–9 years follow‐up cohort (CRP: P = 0.014; t‐PA: P = 0.001) and the 15 years follow‐up cohort (CRP: P = 0.027; t‐PA: P = 0.012). The best predictor of CRP was t‐PA, whilst the best predictor of t‐PA was triglycerides. In a logistic regression analysis model, t‐PA still came out as independent predictor of coronary heart disease, whilst such a significance disappeared for CRP. With the use of ROC curves we determined that AUC for t‐PA was 0.62, and for CRP 0.59, indicating that none of these two analytes has a high prognostic power in predicting future coronary events in an initially healthy population.Conclusion. We conclude that moderate increases in serum concentrations of CRP and t‐PA are present for up to 15 years before the presence of clinical overt coronary heart disease; that a low‐grade inflammation is determined by other risk factors and that t‐PA is an independent risk factor for evolution of coronary heart disease.