bluuebunny/crossref_metadata_2025_split huggingface dataset:
Patients with and without intellectual disability seeking outpatient psychiatric services: diagnoses and prescribing pattern
Authors: Hurley A. D. , Folstein M. , Lam N. 
Published: March 2003

AbstractBackground  The present study examined the presenting problem of psychiatric outpatients, and resulting diagnostic and prescribing patterns, comparing patients with intellectual disability (ID) with non‐ID (N‐ID) patients seen in the same clinic.Methods  This study was a retrospective medical chart review of information in the first psychiatric diagnostic evaluation for the most recent 100 adult patients with mild ID, 100 patients with moderate, severe or profound ID, and 100 matching N‐ID patients.Results  There were significant differences in rates of medical illness, disabilities, history of marriage, children, independent living, and family history of psychiatric and neurological disorders. Individuals with ID were more likely to present with aggression, self‐injurious behaviour or physical complaints, whereas N‐ID subjects presented more frequently with depression and anxiety complaints. For all groups, depressive disorders were the most frequent class of diagnoses. For those with ID, antipsychotics were used in 32% of subjects, with mood stabilizers in 28% and antidepressants in 27%. The N‐ID subjects were most frequently prescribed antidepressants (40%) and anxiolytics (22%). Polypharmacy did not differ significantly among groups.Conclusions  Psychiatric practitioners relied on the diagnostic examination to formulate their diagnosis, whereas the chief complaint reflected the view of caregivers of the subjects with ID. In contrast to previous studies, outpatient providers frequently diagnosed depression, and the prescribing pattern showed increased usage of antidepressants and mood stabilizers.
Management of the Zollinger–Ellison syndrome in patients with multiple endocrine neoplasia type 1
Authors: Jensen  
Published: March 2003

Jensen RT (Bethesda, MD, USA). Management of the Zollinger–Ellison syndrome in patients with multiple endocrine neoplasia type 1 (Minisymposium: MEN & VHL). J Intern Med 1998; 243: 477–88.Zollinger–Ellison syndrome (ZES) is the most common symptomatic pancreatic endocrine tumour in patients with MEN‐1. Besides the treatment of the usual endocrinopathies seen in patients with MEN‐1, the treatment of the ZES requires attention be paid to controlling the gastric acid hypersecretion, to dealing with the gastrinomas per se which are malignant in 18–60% of cases, and to the diagnosis and treatment of gastric carcinoid tumours, that are increasingly seen in these patients. In this article the current management of each of the areas is reviewed and what is known or uncertain discussed, based on our studies at the NIH and data from others. Data from 231 patients including 45 with MEN‐1 and 186 without MEN‐1 is contrasted in this report. Gastric acid hypersecretion has been controlled in all patients medically with MEN‐1 and ZES at the NIH for up to 22 years. The current drugs of choice are H+‐K+ ATPase inhibitors and twice a day dosing is recommended. Periods of parenteral drug therapy (surgery, etc.) and pregnancy require important modifications. The appropriate surgical therapy of the gastrinoma is controversial. Eighty per cent of patients have a duodenal gastrinoma and 20–30% have a pancreatic tumour. Recent studies suggest gastrinoma enucleation combined with duodenotomy rarely results in cure. Aggressive surgery (Whipple resection) can result in cure of gastrinoma but effect on survival is unclear. There are important differences in gastrinoma location, extent, and percentage with aggressive disease in patients with or without MEN‐1, which are discussed. Confusion has occurred because of lack of information on the natural history of the gastrinoma compared to the other pancreatic endocrine tumours that occur in MEN‐1 and survival data from patients with and without MEN‐1 is contrasted. The occurrence of gastric carcinoids in patients with and without MEN‐1 with ZES is contrasted and the areas of certainty and disagreement reviewed.
Identification of homozygous lipoprotein lipase gene mutation in a woman with recurrent aggravation of hypertriglyceridaemia induced by pregnancy
Authors: Suga Shigeki , Tamasawa Naoki , Kinpara Ichiro , Murakami Hiroshi , Kasai Nobuhiko , Onuma Tomio , Ikeda Yasuyuki , Takagi Atsuko , Suda Toshihiro 
Published: March 2003

Shigeki Suga, Naoki Tamasawa, Ichiro Kinpara, Hiroshi Murakami, Nobuhiko Kasai, Tomio Onuma, Yasuyuki Ikeda, Atsuko Takagi, Toshihiro Suda (Hirosaki University School of Medicine, Aomori; and National Cardiovascular Center Research Institute, Osaka, Japan). Identification of homozygous lipoprotein lipase gene mutation in a woman with recurrent aggravation of hyperglyceridaemia induced by pregnancy (Case Report). J Intern Med 1998; 243: 317–21.We herein report a case of a 40‐year‐old Japanese woman (patient IT) with a history of recurrent aggravation of hypertriglyceridaemia, pancreatitis and miscarriages in three previous pregnancies. However, strict dietary intervention was applied during a fourth pregnancy. As a result, acute pancreatitis was avoided, and the patient gave birth to a healthy infant. In patient IT, the underlying etiology of the recurrent aggravation of hypertriglyceridaemia during pregnancy was a lipoprotein lipase (LPL) gene aberration. She was homozygous for LPL deficiency due to a nonsense mutation (TGG1401⇒TGA/Trp382⇒ Stop) in exon 8 of the LPL gene, which resulted in the absence of LPL activity and immunoreactive LPL mass. Our findings indicate that, in LPL deficiency, pregnancy seriously exacerbates hypertriglyceridaemia and increases the risk of acute pancreatitis, which endangers both the mother and fetus. Early diagnosis of LPL deficiency and appropriate management thereof are essential for normal childbirth.
The search for the MEN1 gene
Authors:   THE EUROPEAN CONSORTIUM ON MEN‐1, Lemmes  , Van De Ven  , Kas  , Zhang  , Zhang  , Giraud  , Wautot  , Buisson  , Buisson  , Pugeat  , Peix  , Caldener  , Caldener  , Parente  , Quincey  , Courseaux  , Carle  , Gaudray  , De Wit  , Lips  , Höppener  , Khodaei  , Grant  , Weber  , Teh  , Farnebo  , KytÖlä  , KytÖlä  , Grimmond  , Phelan  , Larsson  , Bassett  , Forbes  , Pannett  , Thakker  
Published: March 2003

The European Consortium on MEN‐1. The search for the MEN1 gene (Minisymposium: MEN & VHL). J Intern Med 1998; 243: 441–6.The search for the gene whose mutations predispose individuals to multiple endocrine neoplasia type 1 (MEN‐1) started in 1988 when the MEN1 locus was assigned to 11q13, close to PYGM. It came to an end with the recent identification of a gene expressed ubiquitously which harbours inactivating mutations associated with MEN‐1. During these nine years, the genetic linkage interval had been slowly reduced, and losses of heterozygosity (LOH) in MEN‐1 tumours had given strong indications that MEN1 was a tumour suppressor gene. It is ironic that MEN1 was finally found to be located less than 100 kb telomeric to PYGM. From the beginning, this gene was the most tightly linked genetically to MEN‐1. In addition, LOH had already shown (in 1990) that it was the most likely centromeric boundary of the MEN1 minimal region. We recently narrowed the critical region to 900 kb through meiotic mapping, and established a 1200‐kb sequence‐ready contig consisting of cosmids, bacterial artificial chromosomes (BACs) and P1‐derived artificial chromosomes (PACs), including three gene clusters (19 genes and 3 expressed sequence tags). Taking LOH results into account, the gene was likely to be present in the 300‐kb area telomeric to PYGM that we had covered with BACs. One of the novel genes that we have identified by cDNA selection in this region, SCG2 (Suppressor Candidate Gene 2), proved to be identical to the recently published MEN1 gene. Mutation analysis of SCG2 in 11 unrelated MEN‐1 families identified one nucleotide sequence polymorphism and 10 different mutations that segregated with the disease.
High prevalence of undiagnosed coeliac disease in adults: a Swedish population‐based study
Authors: IVARSSON A. , Persson L. Å. , Juto P. , Peltonen M. , Suhr O. , Hernell O. 
Published: March 2003

Abstract.Objective. To determine the prevalence of coeliac disease in a population‐based sample of Swedish adults.Design. Population‐based cross‐sectional study.Setting. Northern Sweden.Subjects. A total of 1894 adults (76%) out of 2500 invited, randomly selected from the population register after stratification for age and sex.Main outcome measures. Prevalence of biopsy verified coeliac disease, symptoms of undiagnosed cases, and results of antiendomysium and antigliadin serum antibody tests.Results. Coeliac disease was confirmed by intestinal biopsy showing enteropathy in 10 individuals (seven women and three men), corresponding to a prevalence of 5.3 per 1000 (95% CI = 2.5–9.7). The majority of cases (eight out of 10) had not been diagnosed prior to the screening, although many had symptoms compatible with coeliac disease. All individuals with antiendomysium antibody positivity who were subjected to a small intestinal biopsy had enteropathy. Furthermore, all of them also had elevated levels of antigliadin antibodies type IgA and/or IgG.Conclusions. Coeliac disease is common, albeit mostly undiagnosed, in Swedish adults. It is likely that the situation is no better in other countries. This highlights the importance of keeping coeliac disease in mind, and of promptly investigating individuals with unexplained, even mild, symptoms compatible with the disease. Serological markers, e.g. antigliadin and antiendomysium antibodies, are useful tools within this active case‐finding strategy, although the final diagnosis should be based on an intestinal biopsy demonstrating enteropathy.
Asthma and leukotrienes: antileukotrienes as novel anti‐asthmatic drugs
Authors: Claesson H.‐E. , Dahlén S.‐E. 
Published: March 2003

Abstract. Claesson H‐E, Dahlén S‐E (Karolinska Institute, Stockholm, Sweden). Asthma and leukotrienes: antileukotrienes as novel anti‐asthmatic drugs (Review). J Intern Med 1999; 245: 205–27.
Colonic endocrine cells in patients with familial amyloidotic polyneuropathy
Authors: Anan I. , El‐Salhy M. , Ando Y. , Nyhlin N. , Terazaki H. , Sakashita N. , Suhr O. 
Published: March 2003

Abstract. Anan I, El‐Salhy M, Ando Y, Nyhlin N, Terazaki H, Sakashita N, Suhr O (University Hospital, Umeå, Sweden, and University Hospital, Kumamoto, Japan). Colonic endocrine cells in patients with familial amyloidotic polyneuropathy. J Intern Med 1999; 245: 469–473.Objective.  To establish whether the endocrine cell number is affected in the colon in Japanese FAP patients.Setting.  Department of Medicine, Umeå University Hospital and Department of Internal Medicine and Pathology, University Hospital, Kumamoto, Japan.Subjects.  Autopsy colon tissue specimens from 11 FAP patients and nine controls as well as 12 control biopsy specimens were included in the study.Measurements.  Endocrine cells in the colon were detected by immunohistochemistry and quantified by computerized image analysis.Results.  The autopsy material showed a slight autolysis. Neither enteroglucagon nor pancreatic polypeptide positive cells could be detected in the autopsy material, but were present in biopsy material. There was no statistical difference between autopsy and biopsy specimens regarding the number of peptide YY (PYY), somatostatin and serotonin cells. No significant differences were noted in PYY, somatostatin and serotonin immunoreactive cells in FAP patients compared to autopsy controls, though PYY cells tended to be decreased and serotonin and somatostatin cells tended to be increased in FAP patients.Conclusion.  The difference between the Swedish and Japanese patients in the endocrine cell content points to the possibility of involvement of other factors than the endocrine cell depletion of the colon might be involved in the pathogenesis of gastrointestinal dysfunction in FAP. The tendency of PYY to decrease in Japanese FAP might contribute to the development of diarrhoea in these patients.
Insulin‐mediated vasodilation and glucose uptake are independently related to fasting serum nonesterified fatty acids in elderly men
Authors: Andersson P.‐E. , Lind L. , Berne C. , Berglund L. , Lithell H. O. 
Published: March 2003

Abstract.

Andersson P‐E, Lind L, Berne C, Berglund L, Lithell HO (Uppsala University, Uppsala, Sweden). Insulin‐mediated vasodilation and glucose uptake are independently related to fasting serum nonesterified fatty acids in elderly men. J Intern Med 1999; 246: 529–537.Objectives. To investigate candidate predictors for insulin sensitivity in healthy elderly males, with special reference to the influence of insulin‐mediated skeletal muscle blood flow and serum nonesterified fatty acids (NEFA).Subjects. From the participants in a health survey of 70‐year‐old males, focusing on cardiovascular risk factors, a subgroup of 46 men was sampled. Only men who declared themselves healthy and without medication were included.Interventions. Insulin sensitivity was measured with the euglycaemic hyperinsulinaemic clamp. Leg blood flow was measured before and during the clamp, using the Doppler ultrasound technique.Results. Hyperinsulinaemia [steady‐state plasma insulin 105(15) mU L–1] increased leg blood flow by 10% (P < 0.004). When tested in bivariate analysis incremental leg blood flow was only significantly related to the serum NEFA concentration (r = – 0.38, P < 0.01) amongst a number of measured variables. Insulin‐mediated glucose disposal was related to body mass index (BMI) (r = –0.49, P = 0.0006), waist/hip ratio (r = – 0.31, P = 0.036), NEFA (r = – 0.50, P = 0.0004) and heart rate (r = – 0.34, P = 0.02). In multivariate analysis only BMI and NEFA remained significantly related to whole‐body glucose uptake.Conclusions. The study demonstrates that in elderly men BMI and fasting serum NEFA but not insulin‐induced vasodilation are related to insulin sensitivity. High fasting levels of NEFA relate to both impaired insulin‐mediated vasodilation and impaired glucose disposal, respectively. These two insulin actions were not interrelated, however, a finding which may indicate dissociated mechanisms.
Silent cerebral infarction: a potential risk for pneumonia in the elderly
Authors: Nakagawa T. , Sekizawa K. , Nakajoh K. , Tanji H. , Arai H. , Sasaki H. 
Published: March 2003

Abstract. Nakagawa T, Sekizawa K, Nakajoh K, Tanji H, Arai H, Sasaki H (Tohoku University, Sendai, Japan). Silent cerebral infarction: a potential risk factor for development of pneumonia in the elderly. J Intern Med 2000; 247: 255–259.Objective. To determine whether patients who have silent cerebral infarction are more likely to develop pneumonia than are controls without silent cerebral infarction.Design. We examined 269 community‐residing participants of the senior day‐care centre without history of previous stroke, and then followed them over a two‐year period to assess pneumonia. On the basis of computerized tomography scans, they were divided into two groups: no infarction (n = 102) and cerebral hemispheric infarction (n = 167). Cerebral infarcts were further divided into deep and superficial infarcts.Results. The incidence of pneumonia was significantly higher in subjects with silent cerebral infarction (19.8%) than in controls (4.9%) (odds ratio, 4.67 [95% CI, 1.87–11.67]; P < 0.01). Deep infarcts were more closely associated with the incidence of pneumonia (29.1%) than superficial infarcts (7.6%) (odds ratio, 5.00 [CI, 1.91–13.08]; P < 0.01).Conclusions. Elderly subjects with silent cerebral infarction were more likely to develop pneumonia than were controls without silent cerebral infarction. Amongst hemispheric silent cerebral infarcts, those located in the deep brain structures may be an important predictor of the development of pneumonia.
Molecular aspects of the inherited porphyrias
Authors: Sassa S. , Kappas A. 
Published: March 2003

Abstract. Sassa S, Kappas A (The Rockefeller University, New York, USA). Molecular aspects of the inherited porphyrias (Review). J Intern Med 2000; 247: 169–178.The porphyrias are diseases due to marked deficiencies of enzymes of the haem biosynthetic pathway ( Fig. 1). Except for the first enzyme of the pathway, δ‐aminolevulinate synthase (ALAS), deficiencies in seven other enzymes are associated with the various forms of porphyria
(
Fig. 2). Porphyrias can be classified as either hepatic or erythroid, depending on the major site of production of porphyrins or their precursors. The pathogenesis of all inherited porphyrias has now been defined at the molecular level, and it is clear that there is a great deal of genetic heterogeneity in each porphyria [1].Structure of major porphyrins: (a) uroporphyrin III; (b) corpoporphyrin III; (c) protoporphyrin IX.imageDiseases due to enzymatic deficiency of the haem biosynthetic pathway. XLSA, X‐linked sideroblastic anaemia; Zn‐PP, zinc protoporphyrin IX; Free PP, free protoporphyrin IX; 7‐C porphyrin, 7‐carboxylate porphyrin. Other abbreviations are defined in the text.image
Angiotensin‐converting enzyme (ACE) gene polymorphisms and familial occurrence of sarcoidosis
Authors: Schürmann M. , Reichel P. , Müller‐Myhsok B. , Dieringer T. , Wurm K. , Schlaak M. , Müller‐Quernheim J. , Schwinger E. 
Published: March 2003

Abstract.Schürmann M, Reichel P, Müller‐Myhsok B, Dieringer T, Wurm K, Schlaak M, Müller‐Quernheim J, Schwinger E (Medical University Lübeck; Bernhard Nocht Institute, Hamburg; St. Georgs Hospital, Höchenschwand; and Medical Hospital, Research Center Borstel, Germany). Angiotensin‐converting enzyme (ACE) gene polymorphisms and familial occurrence of sarcoidosis.J Intern Med2001;249:77–83.Objectives.The aim of this study was to test for genetic linkage and association between polymorphisms of the angiotensin‐converting enzyme (ACE) gene and familial occurrence of sarcoidosis.Design, setting and subjects.German families with more than one member suffering from sarcoidosis were contacted and a DNA bank was established. Sixty‐two families (140 patients, 77 females and 63 males, and 104 unaffected relatives) were genotyped for the ACE gene insertion/deletion (I/D) polymorphism and for two flanking variable sites (ACE A‐5466C and ACE 4656(CT)2/3). As controls, 100 DNAs from unrelated resident Caucasians (50 females, 50 males) were analysed. ACE allele and genotype frequencies were determined, and parametric linkage and affected sib pair analyses and transmission disequilibrium tests were performed.Results.There was a striking over‐representation of the ACE I/D genotype DD in patients with sarcoidosis and their families as compared with controls of the study and well founded genotype frequencies from the literature. The same was evident for the accompanying genotypes CC and 2,2 of the flanking polymorphisms. Linkage between the segregation of ACE alleles and the disorder within families was clearly excluded for simple models of inheritance. However, there was a suggestive but not significant (P = 0.06) excess of allele sharing amongst affected siblings. There was no transmission disequilibrium for any ACE allele or haplotype.Conclusions.ACE is involved in the pathogenesis of sarcoidosis, but the ACE polymorphisms are not an inherited main cause of the disease. They are more likely to modify the development of the disorder, and the ACE I/D genotype DD might be a promoter to clinical manifestation.
Use of suicide gene‐expressing donor T‐cells to control alloreactivity after haematopoietic stem cell transplantation
Authors: Tiberghien P. 
Published: March 2003

Abstract. Tiberghien P. (Etablissement Français du Sang de Bourgogne/Franche‐Comté, Université de Franche‐Comté, Besançon, France). Use of suicide gene‐expressing donor T‐cells to control alloreactivity after haematopoietic stem cell transplantation (Minisymposium). J Intern Med 2001; 249: 369–377.Conditional ablation of alloreactive donor T‐cells to prevent or treat graft‐versus‐host disease (GvHD) in the context of allogeneic haematopoietic stem cell transplantation could significantly contribute to expand the use of alloreactivity as a treatment modality. The prevention and treatment of GvHD induced by herpes simplex virus 1‐thymidine kinase (HS‐tk)‐expressing donor T‐cells by ganciclovir (GCV) has been demonstrated. Early clinical findings suggest that the use of such cells early or late after transplantation is associated with no acute toxicity, persistent circulation of the gene‐modified cells (GMC) and GCV‐sensitive GvHD. However, a number of limitations such as reduced immune function of gene‐modified T‐cells, immunogenicity of GMC as well as presence of a truncated HS‐tk gene have emerged and need to be addressed.
The dysmetabolic syndrome
Authors: Groop L. , Orho‐Melander M. 
Published: March 2003

Abstract. Groop L, Orho‐Melander M (Wallenberg Laboratory, Lund University, Malmö, Sweden). The dysmetabolic syndrome. J Intern Med 2001; 250: 105–120.The first unifying definition for the metabolic syndrome was proposed by WHO in 1998. In accordance to this, patients with type 2 diabetes mellitus or impaired glucose tolerane have the syndrome if they fulfil two of the criteria: hypertension, dyslipidaemia, obesity/abdominal obesity and microalbuminuria. Persons with normal glucose tolerance (NGT) should also be insulin resistant. About 40% of persons with impaired glucose tolerance (IGT) and 70% of patients with type 2 diabetes have features of the syndrome. Importantly, presence of the dysmetabolic syndrome is associated with reduced survival, particularly because of increased cardiovascular mortality. The dysmetabolic syndrome most likely results from interplay between several genes and an affluent environment. Compatible with the thrifty gene theory, common variants in genes regulating lipolysis, thermogenesis and glucose uptake in skeletal muscle account for a large part of such thrifty genes. However, hitherto unknown genes may still be identified by random gene approaches.
Serum lipids, lipoprotein(a) level, and apolipoprotein(a) isoforms as prognostic markers in patients with coronary heart disease
Authors: Lundstam U. , Herlitz J. , Karlsson T. , Lindén T. , Wiklund O. 
Published: March 2003

Abstract. Lundstam ULF, Herlitz J, Karlsson T, Lindén T, Wiklund O (Sahlgrenska University Hospital, Göteborg University, Göteborg; Sweden) Serum lipids, lipoprotein(a) level, and apolipoprotein(a) isoforms as prognostic markers in patients with coronary heart disease. J Intern Med 2002; 251: 111–118. Objective. Our objective was to study prognostic factors for death in patients with coronary heart disease (CHD), focusing on serum lipids and lipoproteins. Design and subjects. The study subjects were 964 patients with angina pectoris who underwent coronary angiography between 1985 and 1987. Follow‐up, including survival and cause of death, was carried out in April 1998. Results. A total of 363 patients died. Increasing age, diabetes and low levels of HDL cholesterol and of apolipoprotein (apo) AI were associated with increased risk of total mortality and cardiac mortality. In men, low levels of LDL cholesterol and of apoB were associated with increased risk of death, but not of cardiac death only; high levels of lipoprotein(a) [Lp(a)] were not associated with increased risk. In women, however, there was a trend towards increased risk with increasing Lp(a) levels (P=0.054); the smallest isoform of apo(a) was associated with a twofold increase in risk. In women, but not in men, risk decreased with increasing molecular weight of the apo(a) isoforms. Conclusions. Amongst lipoprotein variables, low levels of HDL cholesterol and of apoAI and the presence of low‐molecular weight isoforms of apo(a) are associated with increased risk of death in patients with CHD. Apo(a) isoforms and Lp(a) levels seem to be more important as risk factors amongst women. Low LDL cholesterol and apoB levels were associated with increased risk, but only in men. These findings demonstrate the importance of a gender‐specific analysis of risk factors for CHD.