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At least 199 records · Page 11Linked to original sources

PubMed1998

Early undifferentiated connective tissue disease. V. An inception cohort 5 years later: disease remissions and changes in diagnoses in well established and undifferentiated connective tissue diseases.

OBJECTIVE: To review the diagnoses after 5 years in patients who were identified within 12 months of the onset of well established and undifferentiated connective tissue diseases (CTD); to examine death rates and disease remissions in these patients. METHODS: This inception cohort of 410 patients was identified in 10 academic rheumatology practices. They had less than one year of signs and/or symptoms of CTD. Diagnoses of specific well established CTD were made using accepted diagnostic and classification criteria. The diagnoses after 5 years were determined. RESULTS: Patients with well established CTD tended to remain with the original diagnosis. The progression of unexplained polyarthritis to rheumatoid arthritis occurred infrequently. Ten percent of patients with isolated Raynaud's phenomenon progressed to systemic sclerosis (SSc). The 5 year survival was over 90% in all diagnostic categories, with the exception of SSc, in which it was 64%. CONCLUSION: Patients with a well established CTD usually continued with the same diagnosis. Patients with undifferentiated CTD tended to remain undifferentiated or to remit.

Arthritis↗

PubMed1981

Heredopathia atactica polyneuritiformis phytanic-acid storage disease, Refsum's disease:" a biochemically well-defined disease with a specific dietary treatment.

Heredopathia atactica polyneuritiformis (phytanic-acid storage disease, Refsum's disease) is an inborn error of metabolism, in which the body accumulates exogenous phytanic acid. The severe manifestations of this disease, which include pigmentary retinal degeneration, chronic polyneuropathy, ataxia, impaired hearing, and cardiopathy, can be either kept from worsening or reversed by elimination of foods rich in phytanic acid from patients' diets. This is borne out by a 20-year experience with two patients, whose conditions improved markedly once they stopped eating butter, animal fat, and other foods rich in phytanic acid.

Humans↗

PubMed1999

Cerebrospinal fluid beta-amyloid(1-42) in Alzheimer disease: differences between early- and late-onset Alzheimer disease and stability during the course of disease.

OBJECTIVES: To study the diagnostic potential of the 42 amino acid form of beta-amyloid (beta-amyloid(1-42)) in cerebrospinal fluid (CSF) as a biochemical marker for Alzheimer disease (AD), the intra-individual biological variation of CSF-beta-amyloid(1-42) level in patients with AD, and the possible effects of differential binding between beta-amyloid and apolipoprotein E isoforms on CSF-beta-amyloid(1-42) levels. DESIGN: A 20-month prospective follow-up study. SETTING: Community population-based sample of consecutive patients with AD referred to the Piteå River Valley Hospital, Piteå, Sweden. PATIENTS: Fifty-three patients with AD (mean +/- SD age, 71.4 +/- 7.4 years) diagnosed according to the National Institute of Neurological and Communicative Disorders and Stroke and Alzheimer's Disease and Related Disorders Association criteria and 21 healthy, age-matched (mean +/- SD age, 68.8 +/- 8.0 years) control subjects. MAIN OUTCOME MEASURES: Cerebrospinal fluid beta-amyloid(1-42) level--analyzed using enzyme-linked immunosorbent assay--and severity of dementia--analyzed using the Mini-Mental State Examination. RESULTS: Mean +/- SD levels of CSF-beta-amyloid(1-42) were decreased (P<.001) in patients with AD (709 +/- 304 pg/mL) compared with controls (1678 +/- 436 pg/mL). Most patients with AD (49 [92%] of 53 patients) had reduced levels (<1130 pg/mL). A highly significant correlation (r = 0.90; P<.001) between baseline and 1-year follow-up CSF-beta-amyloid(1-42) levels was found. There were no significant correlations between CSF-beta-amyloid(1-42) level and duration (r = -0.16) or severity (r = -0.02) of dementia. Low levels were also found in patients with mild dementia (Mini-Mental State Examination score, >25). CONCLUSIONS: The sensitivity of CSF-beta-amyloid(1-42) level as a diagnostic marker for AD is high. The intra-individual biological variation in CSF-beta-amyloid(1-42) level is low. Low CSF-beta-amyloid(1-42) levels are also found in the earlier stages of dementia in patients with AD. These findings suggest that CSF-beta-amyloid(1-42) analyses may be of value in the clinical diagnosis of AD, especially in the early course of the disease, when drug therapy may have the greatest potential of being effective but clinical diagnosis is particularly difficult.

Aged↗

PubMed2002

[Health education for chronic liver and pancreatic diseases: Discussion groups "chronic liver disease" (CL), "chronic pancreatic disease" (CP)].

The article deals with our experience in the educational programs for patients with chronic liver diseases and chronic pancreatic diseases.The structure of our educational programs is modular, the main event is the discussion group "Chronic Liver Diseases" (CL) (2 meetings are headed by physicians, 1 by psychologists, duration in all 3,6 hours) respectively the discussion group "Chronic Pancreatic Diseases" (CP) (2 meetings headed by physicians, 1 by nutrition consultants, duration in all 2,6 hours). As needed, additional modules can be added, for example specific seminars in case of alcohol abuse or educational programs for diabetics. The average number of participants is between 7 - 15 persons in the discussion group CL, respectively 11 - 20 in the discussion group CP. An overhead projector is used to address the various topics, the patients are encouraged to actively participate in the discussion. The contents can be found in a structured curriculum and focus on anatomical basics, diagnostic and therapeutic aspects, physical fitness and performance in professional life.

Adult↗

PubMed1998

Follow-up of 18 patients with human immunodeficiency virus infection and chronic Chagas' disease, with reactivation of Chagas' disease causing cardiac disease in three patients.

A series of 18 patients with chronic Chagas' disease and human immunodeficiency virus infection were followed up for 2 to 66 months (median, 15.5 months). Artificial xenodiagnosis was positive for 81.3% and natural xenodiagnosis was positive for 81.8% of patients for whom they were performed; 81.8% of 11 patients had medium- or high-level parasitemia. Reactivation of Chagas' disease--direct microscopic examination of blood revealing parasites and, clinically, patients presenting with cardiac disease--occurred in three patients (16.7%). Specific antitrypanosomal treatment with benznidazole was effective in reducing the level of parasitemia and improving the clinical condition in three of the four patients treated.

Adult↗

PubMed1992

Systemic lupus erythematosus and related systemic diseases in a nationwide twin cohort: an increased prevalence of disease in MZ twins and concordance of disease features.

Concordance rates for systemic rheumatic diseases among monozygotic (MZ) and same-sex dizygotic (DZ) twin pairs ascertained from the older (twins born before 1958) and younger (twins born during the period 1958-1986) parts of the Finnish Twin Cohort were studied. Nine MZ pairs and 10 DZ pairs with at least one member affected by systemic lupus erythematosus (SLE) were identified. Only one MZ pair was concordant for definite SLE by American Rheumatism Association (ARA) criteria. In addition, two more MZ pairs that fulfilled three ARA criteria may have been concordant. None of the DZ pairs were concordant for SLE. MZ twins also had a higher concordance rate for tests of autoantibodies, but the numbers were small. Other systemic rheumatic diseases were infrequent. The cumulative incidence of systemic rheumatic diseases among MZ twin individuals (1.7/1000) was significantly higher than that among DZ twin individuals (0.7/1000).

Adult↗

PubMed1978

Aschoff bodies at necropsy in valvular heart disease. Evidence from an analysis of 543 patients over 14 years of age that rheumatic heart disease, at least anatomically, is a disease of the mitral valve.

Among 543 necropsy patients over age 14 years with severe chronic valvular heart disease, Aschoff bodies were found in 11 patients (2%). The ages of the 11 patients ranged from 18 to 68 years (avg. 38), and nine had had a history of acute rhematic fever earlier in life. Clinically, nine of the 11 patients had mitral stenosis with or without dysfunction of one or more other cardiac valves, one had isolated aortic regurgitation, and one had both mitral and aortic regurgitation. All 11 patients had diffuse fibrous thickening of the mitral valve leaflets, and all but one had diffuse anatomic lesions of at least one other cardiac valve. No patient with anatomic lesions limited to the aortic valve had Aschoff bodies. Thus, among patients with chronic valvular heart disease, Aschoff bodies, the only anatomic lesion pathognomonic of rheumatic heart disease, indicate diffuse anatomic lesions of the mitral leaflets and usually also anatomic lesions of one or more other cardiac valves. The functional mitral lesion is usually stenosis.

Adolescent↗

PubMed2002

Effect of pravastatin-induced LDL-cholesterol reduction on coronary heart disease and cerebrovascular disease in Japanese: Hokuriku lipid coronary heart disease study-pravastatin atherosclerosis trial (Holicos-PAT).

The purpose of Holicos-PAT was to investigate the efficacy of serum lipid lowering by pravastatin against coronary heart disease (CHD) and cerebrovascular disease (CVD) in the Japanese population. Hypercholesterolemic men and women (n = 2,232), aged 40-70 years, were followed up for 5 years, while they were receiving pravastatin (group P, n = 1,422) or only diet therapy (group C, n = 810). The primary endpoint was CHD (a composite of onset or worsening of angina pectoris, performing CABG or PTCA, non-fatal myocardial infarction, death from CHD including heart death or sudden death). The secondary endpoints were comprised of CVD, total mortality, variation of serum lipid and apoprotein levels, and a relationship between the LDL-C level and occurrence of CHD. For several reasons (proving to meet the exclusion criteria after registration, etc.), 1,290 cases of group P and 749 cases of group C were used as subjects for the primary analysis. The mean follow-up period was 4.5 years in group P and 4.2 years in group C for events of CHD. The mean LDL-C level (SD) in group P was 176 (29) mg/dl and decreased to 134 (29) mg/dl one year later. This effect continued during the follow-up period.CHD events occurred in 9.2/1000 patient-years for men and 2.4/1000 patient-years for women without a history of CHD.CHD events occurred in 55.3/1000 patient-years for men and 23.6/1000 patient-years for women with a history of CHD, which was 6 times higher in men and 10 times higher in women than in those without a history of CHD, respectively. The adjusted relative risk ratio of group P to group C for CHD events was 0.74 (95%CI: 0.47-1.19). In the patients with a history of CHD, the ratio was 0.55 (95%CI: 0.30-1.00). The effect was apparent in the patients with a history of CHD. The incidence of myocardial infarction in Japanese patients with hypercholesterolemia living in the Hokuriku district was apparently lower, than the worldwide incidence, indicative that pravastatin may have a tendency to inhibit the occurrence of events of arteriosclerotic disease.

Adult↗

PubMed1985

[Liver diseases and pregnancy. II: Liver diseases without causal relation to pregnancy--general principles for treatment of patients with liver disease].

In addition to a previous paper [7] a survey is given of acute viral hepatitis, drug-induced liver-disease, chronic hepatitis, cirrhosis of the liver, hyperbilirubinemia, hepatic porphyria, and obstructive jaundice as hepatobiliary diseases independent of pregnancy. Finally, some questions of treatment of pregnant women suffering from liver disease are stressed.

Chemical and Drug Induced Liver Injury↗

PubMed1995

[Huntington's disease: trinucleotide disease or polyglutamine disease?].

Huntington's disease (HD) is associated with expansion of an unstable CAG repeat. Using antibodies against the synthetic peptide corresponding to the sequence of HD gene IT15, we have identified the HD gene product in normal lymphocytes as a approximately 350kDa protein by immunoblot analysis. Moreover, when a modified SDS-PAGE using a low concentration of methylenbisacrylamide was run longer, abnormal immunoreactive bands larger than normal ones were found exclusively in HD samples. We also found double bands in HD brain homogenate samples. Recently on the other CAG repeat diseases, such as SCA1 and DRPLA, abnormal gene products were also reported. These results demonstrate the existence of the expanded CAG repeat gene products and open a possibility that the expanded polyglutamine stretch may really participate in the pathological process of the CAG repeat diseases.

Humans↗

PubMed2000

Neutropenia, neutrophil dysfunction, and inflammatory bowel disease in glycogen storage disease type Ib: results of the European Study on Glycogen Storage Disease type I.

OBJECTIVE: To investigate the incidence, the severity, and the course of neutropenia, neutrophil dysfunction, and inflammatory bowel disease (IBD) in glycogen storage disease (GSD) type Ib. METHOD: As part of a collaborative European Study on GSD type I, a retrospective registry was established in 12 European countries that included all patients with GSD-I who were known at the centers and were born from 1960 to 1995. Of a total of 288 patients with GSD-I, 57 who had GSD-Ib form the basis of this study. RESULTS: Neutropenia (defined as an absolute neutrophil count <1 x 10(9)/L) was found in 54 patients. In 64% of the patients neutropenia was documented before the age of 1 year, but in 18% of the patients neutropenia was first noted between the ages of 6 and 9 years. Neutropenia was persistent in 5 patients and intermittent without any clear cyclical course in 45. Neutrophil function was investigated in 18 patients with neutropenia and was abnormal in all. Perioral infections were reported in 37 patients, perianal infections in 27 patients, and protracted diarrhea in 23 patients. Findings on colonoscopy and radiologic studies in 10 of 20 patients suspected to have IBD were abnormal in all. All patients with IBD, perioral infections, and perianal infections had neutropenia. CONCLUSIONS: Intermittent severe neutropenia is frequently found in patients with GSD-Ib. The study also indicates that IBD in GSD-Ib is underdiagnosed; up to 77% of the patients studied had evidence of IBD, all of whom had neutropenia. IBD was not detected in those with normal neutrophil counts. These findings support the notion that neutropenia and/or neutrophil dysfunction in GSD-Ib and IBD are causally related.

Adolescent↗

PubMed2002

[Mandatory disclosure and infectious disease. From "pestilential" disease to "emerging" diseases].

Due to the recent overhaul of the procedure on mandatory disclosure of infectious diseases (law relating to the reinforcement of sanitation quality control established in July 1998, and the May 1999 and May 2001 decrees on the application of this law), wishing to take advantage of this opportunity, the authors propose a chronological review retracing the history of these legal declarations. For over a century, they have represented the main instrument used for intervention and surveillance allowing for the fight against infectious diseases. The health options kept have varied over the years, as well as the precautions taken to respect secrecy (nominative or anonymous disclosure, modalities of transmission...). Procedures adopted to reconcile the principle of confidentiality along with the necessity to protect public health in the case where it would require an immediate and urgent intervention are examined throughout the chronology (determining the source of contamination, prevention of contagion).

Communicable Diseases, Emerging↗

PubMed1999

Dysplastic gangliocytoma (Lhermitte-Duclos disease) associated with Cowden disease: report of a case and review of the literature for the genetic relationship between the two diseases.

We report a case of dysplastic gangliocytoma of the cerebellum (Lhermitte-Duclos disease, LDD). The patient also had cutaneous and mucosal hamartomas, adenomatous goiter, bilateral breast tumors, and gastrointestinal polyposis, indicating the diagnosis of Cowden disease (CD), the familial hamartoma syndrome. This was a rare sporadic case without any family history of CD, though CD is considered to be an autosomal dominant hereditary disease. Based on a thorough review of the previously reported cases, it is reasonable to consider that CD is inherited in autosomal dominant fashion through a CD gene (PTEN) containing a germline mutation, and that the occurrence of LDD is predicted on an additional somatic hit on the remaining normal CD allele or another unknown gene.

Adult↗

PubMed1994

Guidelines for long-term management of patients with Kawasaki disease. Report from the Committee on Rheumatic Fever, Endocarditis, and Kawasaki Disease, Council on Cardiovascular Disease in the Young, American Heart Association.

Long-term management of patients with Kawasaki disease should be tailored to the degree of coronary arterial involvement. This committee has made recommendations for each risk level about antiplatelet and anticoagulant therapy, physical activity, follow-up assessment by a pediatric cardiologist or primary care physician, and the appropriate diagnostic procedures that may be performed to evaluate cardiac disease. The risk level for a given patient with coronary arterial involvement may change over time because of changes in coronary artery morphology. The recommendations for management presented here are intended as practical interim guidelines until additional prospective or retrospective data are compiled to define more clearly the natural history of Kawasaki disease.

Cardiology↗

PubMed2006

The brain immune response in human prion diseases. Microglial activation and microglial disease. I. Sporadic Creutzfeldt-Jakob disease.

A study of microglial activation and its contribution to the CNS immune response was performed on the brain autopsy material of 40 patients with definite sporadic Creutzfeldt-Jakob disease (sCJD). Spatial patterns of microglial activation and prion protein disease-associated (PrPd) deposition were compared in cerebellar and cerebral cortices using immunohistochemical (IHC) activation markers. Morphological phenotype forms of microglial cells in activation stages were assessed immunohistochemically (IHC). The immune inflammatory response dominated by microglia was found to be a characteristic feature in CJD. Differences in the intensity and patterns of microglial activation corresponded to variable patterns of PrP deposition, whereas the morphological phenotype forms of microglia were specific for activation stages. The presence of activated microglial cells in the various activation stages regardless of illness duration indicates continuous microglial activity and microglial contribution to the spread of infection for the whole symptomatic period of the disease. Remarkable vacuolar degeneration changes of numerous microglial cells in different activation stages including homing stage may suggest dysfunction of microglial immune surveillance in human sCJD that can significantly contribute to transmissible spongiform encephalopathy (TSE) pathogenesis.

Adult↗

PubMed2005

Disease-related and drug-induced changes in dopamine transporter expression might undermine the reliability of imaging studies of disease progression in Parkinson's disease.

Parkinson's disease (PD) is a progressive neurodegenerative disorder. Standard therapeutic interventions are aimed at replenishment of empty dopamine stores with levodopa or substitution with dopamine receptor agonists. However, in the long term this symptomatic therapy fails. Currently, various neuroprotective agents are being developed, with the intention to slow down the degeneration of dopaminergic neurons. In this context, the early identification of persons at risk to develop the disease as well as the assessment of the effectiveness of putative neuroprotective agents, are critical issues. Dopamine transporter (DAT) scintigraphy with single photon emission computed tomography (SPECT) has been used to assess the dopaminergic function in PD. Initial studies with several radioligands show significant loss of DAT binding in PD patients as compared to controls. In this paper we review the evidence on the utility of DAT imaging with SPECT in early PD detection as well as in monitoring neurprotection.

Animals↗

PubMed1972

Respiratory disease in a colony of rats. II. Isolation of Mycoplasma pulmonis from the natural disease, and the experimental disease induced with a cloned culture of this organism.

Mycoplasma pulmonis was isolated from the pneumonic lung of a rat. Two groups of mycoplasma-free rats were inoculated, one with a culture of the M. pulmonis strain which had been cloned four times (group A) and the other with a lung homogenate of the rat from which the strain had been isolated (group B). A third group (C) consisted of uninoculated control animals. Each group was kept in strict isolation and allowed to breed so that the progeny was naturally exposed to any pathogens present in the inoculated animals. After different periods of exposure, rats were autopsied, respiratory tracts and inner ears were cultured for mycoplasmas and bacteria, and sera were tested for complement-fixing antibodies to murine mycoplasmas.In group-A rats, M. pulmonis was consistently isolated from the inner ears or lungs from 50 to 715 days after exposure. Complement-fixing antibody to M. pulmonis was detected 20 days after inoculation, but in the naturally exposed progeny antibody took longer than 50 days to develop. Antibodies to the other known mycoplasmas of murine origin, M. arthritidis and M. neurolyticum, were never found. Purulent otitis interna was consistently found from day 55 onwards, while lung lesions were first observed at 85 days and persisted to 715 days. Pulmonary lesions developed more slowly in inoculated parents than in exposed progeny. Similar results were found in group-B rats, which were examined up to 441 days after inoculation. Uninoculated group-C rats were examined up to 768 days of age, but M. pulmonis was not recovered; of the 54 animals whose serum was tested all were negative to the three species of mycoplasmas, except one which had a titre of 16 with M. pulmonis. Pneumonia, bronchiectasis or lymphoreticular hyperplasia were not seen in any of these control rats. Bacterial respiratory pathogens were not isolated from rats in any of the groups, nor was antibody to Sendai virus detected.The results suggest that M. pulmonis alone can cause pneumonia and bronchiectasis in rats since mechanical carry-over of another pathogen with the initial cloned inoculum is very unlikely and there was no evidence for the participation of any other rat pathogen. The respiratory disease induced by the cloned culture was comparable with that induced by the lung homogenate, and with the well-known syndrome of chronic respiratory disease and bronchiectasis in the rat.

Animals↗

PubMed2005

Relation of diet to cardiovascular disease risk factors in subjects with cardiovascular disease in Australia and New Zealand: analysis of the Long-Term Intervention with Pravastatin in Ischaemic Disease trial.

BACKGROUND: Comparisons of the relation of diet with coronary heart disease (CHD) between countries with similar socioeconomic environments have been few. Patients in Australia and New Zealand (n = 9014) who participated in a large secondary prevention trial had significantly different CHD mortality rates. OBJECTIVE: The objective of this study was to ascertain the effects of nutrient consumption on cardiovascular disease risk in patients from the 2 countries. DESIGN: Nutrient consumption patterns were surveyed in a subgroup of 1077 patients on 3 occasions over 4 y during an intervention trial with a statin. RESULTS: Within the entire cohort of 9014 patients, the New Zealanders had significantly (40%) more cardiovascular deaths than did the Australians. In the subgroup of 1077 patients, the New Zealanders were found at entry to have eaten significantly more total (69.34 +/- 12.35 compared with 66.45 +/- 12.9 g/d) and saturated (26.23 +/- 8.41 compared with 24.37 +/- 7.36 g/d) fat (P < 0.001 for each) and to have significantly (4%) higher concentrations of LDL cholesterol (3.96 +/- 0.74 compared with 3.8 +/- 0.76 mmol/L; P < 0.001) than did the Australians. At baseline, patients with previous coronary artery bypass grafting had diets that were significantly different from those of patients without previous coronary artery bypass grafting. Relations between nutrients and plasma lipids confirmed the direct effects of saturated fatty acids on LDL cholesterol and of alcohol on plasma triacylglycerol and HDL cholesterol. Dietary counseling throughout the trial led to significant improvements in compliance with guidelines. However, neither the baseline nor the improved 1-y nutrient intakes predicted future changes in cardiovascular events. CONCLUSION: Differences in CHD mortality and in LDL-cholesterol concentrations between 2 populations with similar socioeconomic and cultural backgrounds were consistent with the amounts and types of fats eaten.

Aged↗