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PubMed1999

The peaked audiometric configuration in Meniere's disease: disease related?

A retrospective analysis of audiograms was completed for persons from 3 different patient groups. These 3 groups were (1) persons with unilateral Meniere's disease, (2) persons with unilateral acoustic tumor, and (3) persons from the general clinical population of an audiology clinic in a major medical center. As Paparella, McDermott, Luiz, and de Sousa (1982) also report, the most common audiometric configuration in the Meniere's disease group was peaked, a condition in which poorer hearing is reported in the low and high frequencies, and an island of better hearing sensitivity occurs at either 1.0 or 2.0 kHz. Some of the peaked audiograms from persons in our Meniere's disease group could be a result of a low-frequency hearing loss caused by Meniere's disease combined with a high-frequency hearing loss due to aging or other environmental factors. However, 27% (13/48) of the peaked audiograms in ears with Meniere's disease were found in persons with no hearing loss in the high frequencies of their nondiseased ear. Thus, the peaked audiometric configuration is associated with Meniere's disease, as suggested by research results from animals with experimentally induced endolymphatic hydrops. Peaked audiometric configurations were also observed in roughly 9% of the general clinical population and in 12.5% of ears of persons with acoustic tumors. A rule--based on the audiometric configurations that maximized identification of patients with Meniere's disease--using the general clinical population as a control did not fare as well when the tumor group was used as a control. This finding provides further evidence that peaked audiograms, although common to Meniere's disease, are not pathognomonic of this disease. Furthermore, these results indicate that the diagnosis of Meniere's disease from audiometric profiles is risky, at best.

Adult↗

PubMed2003

Detection of herpes virus genomes in skin lesions from patients with Behçet's disease and other related inflammatory diseases.

Although the aetiology of Behçet's disease is still poorly understood, viral infection has long been postulated as one of the factors. To investigate the relationship between herpes viruses and Behçet's disease, we used polymerase chain reaction to detect herpes simplex virus 1 (HSV-1) and 2 (HSV-2), and human herpes virus 6 (HHV-6) and 7 (HHV-7) DNA in samples of lesional tissues from patients with Behçet's disease and other related inflammatory disorders. Four cases were positive for HSV-1; 1 of 11 Behçet's disease cases, 2 of 3 Sweet's disease cases and 1 of 3 erythema nodosum cases. Two cases were positive for both HSV-1 and HSV-2; one Behçet's disease and one erythema nodosum. All cases were negative for HHV-6 and HHV-7. These findings indicate that there might be some relationship between Behçet's disease and the presence of HSV-1 and/or HSV-2 DNA and that HHV-6 and HHV-7 do not seem to be involved in the pathogenesis of Behçet's disease. However, HSV-1 and HSV-2 DNAs were also detected in non-Behçet's disease lesions, suggesting that HSV-1/2 is not correlated to the direct pathogenesis of Behçet's disease.

Adult↗

PubMed2002

Coeliac disease among healthy members of multiple case coeliac disease families.

BACKGROUND: The main objective of the study was to assess the frequency of undetected coeliac disease among the first-degree relatives of families with two or more previously diagnosed coeliac disease patients. The value of the serum endomysial antibody test as a single means of detecting clinically silent coeliac disease was evaluated. The correlation of endomysial and tissue transglutaminase antibodies and the correlation of endomysial antibodies to the HLA typical for coeliac disease was determined. METHODS: A total of 137 multiple-case coeliac disease families with 872 family members were recruited; 466 healthy family members were simultaneously screened for gliadin and endomysial antibodies and thereafter for tissue tranglutaminase antibodies. Antibody-positive persons were typed for HLA-DQ2 and DQ8. The diagnosis of coeliac disease was based on the typical mucosal lesion on small-bowel biopsies. RESULTS: Forty-four (9.4%) of the healthy family members were positive for endomysial and 48 (10.3%) for gliadin antibodies; 42 biopsies revealed 29 new coeliac disease patients (6.2% of healthy individuals). Endomysial antibodies detected 97% and gliadin antibodies 52% of the new cases. All 44 endomysial-antibody-positive and 35 of 48 gliadin-antibody-positive individuals were positive for DQ2. Tissue transglutaminase antibodies corresponded well with endomysial antibodies. CONCLUSIONS: Undetected coeliac disease is common even among healthy first-degree relatives of multiple case families. The findings emphasize the value of serum endomysial antibodies in the detection of clinically silent coeliac disease. Endomysial-antibody-positive individuals, unlike gliadin-antibody-positive ones, share the coeliac disease-type HLA-DQ.

Adult↗

PubMed1997

Onset of coronary artery disease prior to initiation of haemodialysis in patients with end-stage renal disease.

To determine whether the onset of coronary artery disease may precede the initiation of dialysis in patients with end-stage renal disease, we performed coronary angiography within 1 month of initiation of maintenance haemodialysis in 24 patients (age range 42-78 years; mean 63.7 +/- 11). Coronary angiography was performed regardless of the absence or presence of angina. Fifteen patients had diabetic nephropathy, and nine had non-diabetic nephropathy. Significant coronary stenosis was defined as at least 75% narrowing of the reference segment. Fifteen patients (62.5%) with a total of 49 lesions were classified as the coronary artery disease present group. Eleven of those 15 (73.3%) had multivessel disease. The average number of stenotic lesions was 3.3 per patient. The most common patterns of stenosis were complex (23 lesions; 47%), and diffuse lesions over 20 mm long (14 lesions; 29%). None of the clinical or haematological factors evaluated differed significantly between the groups with and without coronary artery disease. The prevalence of coronary artery disease was 72.7% in the symptomatic patients and 53.8% in the asymptomatic patients. The diagnosis of coronary artery disease at the start of maintenance haemodialysis based only on chest symptoms and clinical factors proved to be difficult. Coronary angiography is thus essential for evaluating coronary artery disease in uraemic patients. Many patients with end-stage renal disease had coronary artery disease prior to the start of haemodialysis.

Adult↗

PubMed1989

Peripheral arterial disease in large vessels is epidemiologically distinct from small vessel disease. An analysis of risk factors.

The authors used noninvasive techniques, including flow velocity by Doppler ultrasound, to accurately assess and distinguish between large and small vessel peripheral arterial disease in a population study in southern California, 1978-1981. In 565 men and women aged 38-82 years, there were 69 cases of large vessel peripheral arterial disease, 19 of which were severe, and 90 cases of isolated small vessel peripheral arterial disease. In cross-sectional multivariate analysis in men, large vessel peripheral arterial disease was significantly associated with age, pack-years of cigarettes smoked, systolic blood pressure, fasting plasma glucose, and marginally with obesity. Similar analysis in women revealed significant associations only for age and systolic blood pressure, although the associations for pack-years of cigarettes, obesity, and low density lipoprotein cholesterol were suggestive. By contrast, isolated small vessel peripheral arterial disease was not significantly associated with any of the major cardiovascular disease risk factors, including two measures of carbohydrate metabolism, fasting plasma glucose and glycosylated hemoglobin. These findings, coupled with our earlier report that large vessel peripheral arterial disease but not isolated small vessel peripheral arterial disease was independently predictive of subsequent mortality, suggest that large vessel peripheral arterial disease and isolated small vessel peripheral arterial disease are epidemiologically, as well as pathophysiologically, distinct entities.

Adult↗

PubMed1997

Whipple disease. Clinical review of 52 cases. The SNFMI Research Group on Whipple Disease. Société Nationale Française de Médecine Interne.

Whipple disease is a rare, multiorgan disease with prominent intestinal manifestations. We report a retrospective clinical study of 52 patients recruited in various parts of France from 1967 to 1994. Seventy-three percent of the patients were male. Clinical manifestations preceding the diagnosis were articular for 35 patients (67%), digestive for 8 patients (15%), general for 7 patients (14%), and neurologic for 2 patients (4%). At a later stage of the disease, 44 patients (85%) presented diarrhea, weight loss, and malabsorption, while 8 patients (15%) did not show any gastrointestinal symptom throughout the development of the disease. Forty-three patients (83%) presented arthralgia or arthritis, and 11 (21%) had prominent neurologic symptoms. In addition, cardiovascular symptoms were present in 9 patients (17%); mucocutaneous symptoms, in 9 patients (17%); pleuropulmonary symptoms, in 7 patients (13%); and ophthalmologic symptoms, in 5 patients (10%). All patients but 1 were given a positive diagnosis on histopathologic criteria: jejunal biopsy for 46 patients (90%), lymph node biopsy for 3 patients (6%), brain biopsy for 1 patient (2%), postmortem jejunal and cerebral biopsy for 1 patient (2%). With treatment, the disease evolved favorably in 47 patients (90%), while 5 patients (10%) had unfavorable outcomes (2 deaths from neurologic involvement, 1 patient with chronic dementia, and 2 patients with digestive symptoms insensitive to antimicrobial therapy). Of the 41 patients initially treated successfully and whose treatment has been completed, clinical evolution after discontinuation of treatment was favorable in 34 cases (83%). Clinical relapses occurred in 7 patients. No relapse was observed after treatment by trimethoprim-sulfamethoxazole, alone or following a combination of penicillin and streptomycin, or after the combination of penicillin and streptomycin, whatever the oral follow-up treatment prescribed. The evolution of patients showing a relapse was favorable in all cases after reintroduction of antibiotic therapy. These results are discussed in the light of previously published series and case reports of Whipple disease. The diagnosis of the disease remains difficult at an early phase or when digestive symptoms are absent. It is noteworthy that proximal enteroscopy is sometimes misleading, considered normal on macroscopic examination and nonspecific on pathologic grounds. A normal erythrocyte sedimentation rate represents another pitfall. Histopathology is the key for positive and differential diagnosis, and may require multiple and repeated biopsies. Findings from molecular biology confirm the central role of an uncultured Gram-positive bacillus which was named in 1992 Tropheryma whippelii. A recent report suggests that polymerase chain reaction (PCR) analysis of peripheral blood might allow the diagnosis of Whipple disease in some cases. However, immunologic or cellular parameters such as macrophagic function may play an important, although not clearly elucidated, role in the pathogeny of the disease. Trimethoprim-sulfamethoxazole should be considered the antimicrobial agent of choice in the treatment of Whipple disease, minimizing the risk of cerebral involvement and relapses.

Adult↗

PubMed2000

Helicobacter pylori infection and peptic disease in coeliac disease.

OBJECTIVE: To evaluate Helicobacter pylori (HP) and peptic disease prevalence in coeliac disease patients and in a control group. DESIGN: In the retrospective study, data collected on 690 upper endoscopies in coeliac patients, carried out between 1990 and 1997, were analysed. In the prospective study 263 consecutive adult patients were studied for follow-up of coeliac disease or suspected malabsorption/coeliac disease. Tests included routine blood tests; serum dosage of EMA; IgG anti-HP and, in a subgroup of participants, anti-CagA antibodies; upper endoscopy with multiple gastric and duodenal biopsies; histological examination of gastric and duodenal specimens with staining providing evidence for the presence of HP. SETTING: A centre for the treatment of malabsorptive diseases, University Federico II of Naples, Italy. PARTICIPANTS: Adults with coeliac disease at the time of diagnosis and follow-up. RESULTS: In the retrospective study, peptic disease had a prevalence of 0.72% in the endoscopy series of coeliac patients examined. In the prospective study, the prevalence of HP infection was significantly lower in untreated coeliac patients when compared with treated patients and controls (20.7%, 32.4% and 55.3%, respectively; P = 0.001, chi2). The prevalence of HP was related to both gender and age. It was found more frequently in men and the frequency increased with age in all groups. The study confirmed the low prevalence of peptic disease in coeliac patients compared with controls (0.9% vs 3.8%, P = 0.001). CONCLUSION: Patients with coeliac disease show a significantly lower prevalence of HP infection and peptic disease when compared to controls. Gluten free diet-induced changes in the intestinal environment and/or the host immuno-response may explain the increased HP prevalence in treated coeliac patients.

Adolescent↗

PubMedDate not supplied

Safety of therapeutic beta-blockade in patients with coexisting bronchospastic airway disease and coronary artery disease.

Atherosclerotic coronary artery disease and bronchospastic airway disease frequently coexist in older patients. There are substantial data suggesting reduced mortality with the use of beta-adrenergic blocking drugs in patients with symptomatic coronary artery disease, especially patients who have postmyocardial infarction and/or severe coronary artery disease associated with left ventricular dysfunction. Conversely, the use of beta-adrenergic blocking drugs (even selective beta(1)-adrenergic blocking drugs) has the potential of exacerbating bronchospasm. This prospective registry evaluates the safety of use of selective beta(1)-adrenergic blocking drugs in patients with symptomatic coronary artery disease and bronchospastic airway disease. A total of 835 consecutive patients with symptomatic coronary artery disease were prospectively evaluated for coexisting coronary and bronchospastic airway disease. Of these, 30 patients (mean age: 61 +/- 14 years) met the qualifying inclusion criteria. All these study patients except 1 (29/30 [96%]) reached therapeutic beta-blockade (resting heart rate <70 beats per minute). The 1 patient who discontinued use of beta-adrenergic blocking drugs as a result of lifestyle-limiting bronchospasm had no serious adverse outcome. No hospitalizations were required because of worsening bronchospasm. Ten percent of patients reported increased requirement of inhaled beta(2)-agonist use. The patients were followed for 15 +/- 9 months. One patient died of stroke at 22 weeks of follow-up. In conclusion, use of selective beta(1)-adrenergic blocking drugs at a therapeutic dose is safe (as long as careful clinical follow-up is available) and should be considered in all patients with coexisting symptomatic coronary artery disease and bronchospastic airway disease.

Adrenergic beta-Antagonists↗

PubMed2006

Metabolic syndrome is associated with severe coronary artery disease and poor cardiac outcome in end-stage renal disease patients with acute coronary syndrome.

OBJECTIVE: People with either end-stage renal disease or metabolic syndrome (MS) are at increased risk for developing coronary artery disease. The impact of MS on coronary artery disease in end-stage renal disease patients, however, remained unclear. We therefore evaluated whether the presence of MS is associated with more coronary lesions and a worse cardiac outcome in end-stage renal disease patients with acute coronary syndrome. METHODS: We retrospectively examined 76 consecutive end-stage renal disease patients who experienced acute coronary syndrome and underwent cardiac catheterization. Cardiovascular events were compared between the MS and non-MS group. RESULTS: MS was found in 58 patients and coronary artery disease was found in 63 patients [52 with MS (accounting for 90% of the MS group); 11 without MS (61% of the non-MS); MS vs. non-MS, P=0.01]. Patients with MS had more multi-vessel coronary artery disease (P<0.001) than those without MS. Sixty-nine (MS, 51; non-MS, 18) patients survived the acute coronary syndrome. During the follow-up period (MS, 17.6+/-13.8; non-MS, 19.9+/-11.7 months), 12 patients with MS (24%) and none without MS died owing to cardiovascular events (MS vs. non-MS, P=0.028). Regarding major cardiac events, including cardiac death, repeat non-fatal myocardial infarction, and repeat revascularization, the non-MS group had a higher probability of event-free survival (P<0.0001). CONCLUSIONS: In patients with end-stage renal disease complicated by acute coronary syndrome, MS is frequently seen and associated with a higher probability of coronary artery disease involving multiple coronary branches and a higher probability of cardiac death and major cardiac events. Therefore, detection of MS in such patients is useful for risk stratification.

Aged↗

PubMed2005

How genetics research in Parkinson's disease is enhancing understanding of the common idiopathic forms of the disease.

PURPOSE OF REVIEW: Rapid progress in genetics has meant that there are now five genes identified for 'Parkinson's disease'. The detailed phenotypes vary, but generally the dominant genes cause a Lewy body disease spectrum whereas recessive genes cause a milder parkinsonism with variable inclusion body pathology. The subject of this review is to highlight these discoveries and to discuss their relationships to idiopathic Parkinson's disease. RECENT FINDINGS: In January 2004, mutations in PINK1, coding for a mitochondrial kinase, were found to be causal for recessive parkinsonism. Subsequently, several studies have found additional mutations associated with early onset parkinsonism. Some cases have been described with a phenotype much closer to idiopathic Parkinson's disease, but it does not appear that PINK1 is a major risk factor for the sporadic disease. Later in the same year, the LRRK2 gene was shown to cause a dominant disease with a broader phenotype. The protein product was named dardarin and contains GTPase and kinase domains. Lewy bodies have been reported in LRRK2 cases, potentially linking this gene with sporadic Parkinson's disease. One mutation, G2019S, is found in a significant percentage of cases, including sporadic Parkinson's disease. SUMMARY: Mutations in these two genes, along with previously described Mendelian variants, are beginning to yield important information about loss of specific neuronal groups or to protein inclusion pathology. How this relates to sporadic Parkinson's disease, however, is not yet fully defined. There are clear phenotypic overlaps with genetic and sporadic Parkinson's disease, especially for the dominant genes, suggesting that common facets of pathogenesis may exist.

Humans↗

PubMed2004

Systematic review: has disease outcome in Crohn's disease changed during the last four decades?

BACKGROUND: Disease outcome in Crohn's disease might have changed during the last four decades. Disease outcome measurement in Crohn's disease has methodological difficulties because of patient selection and lack of proper definition of diagnostic and outcome measurement criteria. AIM: To assess possible changes in disease outcome in Crohn's disease during the last four decades. METHODS: A systematic literature search was performed using the MEDLINE search engine and major international conference libraries. Articles and abstracts were selected according to stringent inclusion criteria. RESULTS: Forty articles and nine abstracts complied with the inclusion criteria. Seven studies with a median follow-up time between 11.1 and 17 years showed standard mortality ratios in Crohn's disease ranging between 2.16 and 0.72 with a tendency of decline during the last four decades. One study with 11.4 years mean follow-up time showed a statistically significant increased relative risk for colorectal cancer that was not confirmed by three others. Sixteen publications applied in the disease recurrence category. Probability of first resective surgery ranged between 38 and 96% during the first 15 years after diagnosis. The overall recurrence and surgical recurrence rates after first resective surgery ranged between 50 and 60, and 28 and 45% respectively during the following 15 years without an apparent time trend. CONCLUSION: This structured literature review provides no hard evidence for change in disease outcome in Crohn's disease during the last four decades.

Crohn Disease↗

PubMed1995

Increased leucocyte adhesiveness/aggregation is a most useful indicator of disease activity in patients with inflammatory bowel disease.

The aim of the study was to determine the comparative usefulness of inflammatory markers, in evaluating disease activity in patients with inflammatory bowel disease. Disease activity was assessed by the Mayo Clinic score for ulcerative colitis, and Harvey-Bradshaw score for Crohn's disease. Five hundred normal blood donors who had no underlying inflammatory condition served as controls. The erythrocyte sedimentation rate, platelet and white blood cell count, C reactive protein, and the leucocyte adhesiveness/aggregation test (LAAT) were determined in each patient. One hundred and twenty four patients with inflammatory bowel disease were tested while in remission and 128 in relapse. Their mean (SD) per cent of aggregated white blood cells in the peripheral blood was 8 (5) and 17 (10) respectively compared with controls 6 (4) (p < 0.0001). Moreover, the LAAT could effectively discriminate between various grades of disease activity, the values in patients with active disease being 13 (6)% in mild, 17 (10)% in moderate, and 26 (10)% in severe disease (p < 0.0001). Other acute phase reactants including the erythrocyte sedimentation rate, the white blood cell count, the platelet count, neutrophil count, as well as, the C reactive protein concentration did not differentiate as well between the various groups. Using logistic regression analysis to differentiate between inflammatory bowel disease patients in remission or relapse, the LAAT was the single best indicator. The addition of any other test did not contribute to the discrimination. Among the different laboratory variables tested only the LAAT significantly discriminated between the five different subgroups of controls, remission and mild, moderate or severe disease activity.

Adolescent↗

PubMed2001

Clinical phenotype in patients with alpha-synuclein Parkinson's disease living in Greece in comparison with patients with sporadic Parkinson's disease.

OBJECTIVE: An Ala53Thr mutation of the alpha-synuclein gene has been recently identified as a rare cause of autosomal Parkinson's disease (PD). The clinical characteristics of 15 patients with PD living in Greece with the Ala53Thr alpha-synuclein mutation (alpha-synPD) were compared with patients with sporadic Parkinson's disease (sPD). METHODS: An investigator, blind to the results of the genetic analysis, examined 15 patients with alpha-synPD and 52 consecutive patients with sPD. Demographic data, age at onset of the illness, modality of presentation, and duration of PD were collected. The unified Parkinson's disease rating scale, the Hoehn and Yahr scale, and the Schwab-England scale were completed. The patients with alpha-synPD were matched for duration of disease with 32 of the 52 patients with sporadic PD (MsPD group). RESULTS: Patients with the alpha-synuclein mutation were significantly younger (mean 7.6 years), showed the first sign of the disease significantly earlier in life (mean 10.8 years), and had significantly longer duration of the disease compared with patients with sPD. Tremor at onset of the disease was present in only one (6.7%) of the patients with alpha-synPD, whereas it was present in 32 (61.5%) of the patients with sPD (p=0.0006). During the course of the disease one patient in the alpha-synPD group went on to develop tremor compared with six patients in the sPD group. Rigidity, bradykinesia, postural instability, orthostatic hypotension, intellectual impairment, depression, complications of therapy, and clinical severity of the disease at the time of examination did not differ significantly between patients with alpha-synPD and those with sPD, or between patients with alpha-synPD and the MsPD group. CONCLUSION: The younger age at onset of the illness, the much lower prevalence of tremor, and the longer duration of the disease characterise the clinical phenotype in this sample of patients with alpha-synPD. The other symptoms and signs of the illness did not seem to differentiate the patients with alpha-synPD from those with sPD.

Adult↗

PubMed2003

Genetic risk factors for cerebrovascular disease in children with sickle cell disease: design of a case-control association study and genomewide screen.

BACKGROUND: The phenotypic heterogeneity of sickle cell disease is likely the result of multiple genetic factors and their interaction with the sickle mutation. High transcranial doppler (TCD) velocities define a subgroup of children with sickle cell disease who are at increased risk for developing ischemic stroke. The genetic factors leading to the development of a high TCD velocity (i.e. cerebrovascular disease) and ultimately to stroke are not well characterized. METHODS: We have designed a case-control association study to elucidate the role of genetic polymorphisms as risk factors for cerebrovascular disease as measured by a high TCD velocity in children with sickle cell disease. The study will consist of two parts: a candidate gene study and a genomewide screen and will be performed in 230 cases and 400 controls. Cases will include 130 patients (TCD > or = 200 cm/s) randomized in the Stroke Prevention Trial in Sickle Cell Anemia (STOP) study as well as 100 other patients found to have high TCD in STOP II screening. Four hundred sickle cell disease patients with a normal TCD velocity (TCD < 170 cm/s) will be controls. The candidate gene study will involve the analysis of 28 genetic polymorphisms in 20 candidate genes. The polymorphisms include mutations in coagulation factor genes (Factor V, Prothrombin, Fibrinogen, Factor VII, Factor XIII, PAI-1), platelet activation/function (GpIIb/IIIa, GpIb IX-V, GpIa/IIa), vascular reactivity (ACE), endothelial cell function (MTHFR, thrombomodulin, VCAM-1, E-Selectin, L-Selectin, P-Selectin, ICAM-1), inflammation (TNFalpha), lipid metabolism (Apo A1, Apo E), and cell adhesion (VCAM-1, E-Selectin, L-Selectin, P-Selectin, ICAM-1). We will perform a genomewide screen of validated single nucleotide polymorphisms (SNPs) in pooled DNA samples from 230 cases and 400 controls to study the possible association of additional polymorphisms with the high-risk phenotype. High-throughput SNP genotyping will be performed through MALDI-TOF technology using Sequenom's MassARRAY system. DISCUSSION: It is expected that this study will yield important information on genetic risk factors for the cerebrovascular disease phenotype in sickle cell disease by clarifying the role of candidate genes in the development of high TCD. The genomewide screen for a large number of SNPs may uncover the association of novel polymorphisms with cerebrovascular disease and stroke in sickle cell disease.

Adolescent↗

PubMed1993

One hundred autotransplants for relapsed or refractory Hodgkin's disease and lymphoma: value of pretransplant disease status for predicting outcome.

PURPOSE: One hundred autotransplants for Hodgkin's disease (HD) or non-Hodgkin's lymphoma (NHL) were examined prospectively to identify variables with prognostic significance. PATIENTS AND METHODS: Ninety-six patients with relapsed or refractory HD or NHL underwent 100 autotransplants. Patients received high-dose carmustine (BCNU), etoposide, cytarabine, and cyclophosphamide (BEAC) followed by unpurged autologous stem-cell rescue. RESULTS: The 3-year actuarial event-free survival (EFS) rate for the 47 HD patients is 49%, with a median followup duration of 2 years. For the 53 NHL patients, the 3-year actuarial EFS rate is 40%, with a median follow-up duration of 19 months. By multivariate analysis, minimal disease on admission (all areas < or = 2 cm) is associated with improved EFS (HD, P = .003, NHL, P = .03). The projected EFS rate for HD patients entering with minimal disease is 70% versus 15% for patients with bulky disease (P = .0001). The projected EFS rate for NHL patients with minimal disease is 48% versus 25% for patients with bulky disease (P = .04). Posttransplant involved-field radiotherapy, administered to 26 of the last 61 patients, was associated with an improved EFS rate for NHL patients (P = .015). The BEAC regimen was well tolerated by patients who entered the study with minimal disease (mortality rate, < 5%), but caused significant toxicity in patients with bulky disease (mortality rate, 25%). CONCLUSION: Disease burden before autotransplantation is an important predictor of regimen-related toxicity and EFS. Posttransplant involved-field radiotherapy may improve outcomes in select patients with NHL. The BEAC regimen is safe and effective, particularly for patients with minimal disease.

Actuarial Analysis↗

PubMed1993

Creutzfeldt-Jakob disease. A case report, with special attention to the electroencephalogram in this disorder and to its possible relationships to kuru, scrapie and "mad cow disease".

A case of Creutzfeldt-Jakob disease in a 58-year-old Brazilian cattle rancher and businessman is presented. The EEG was normal, which is consistent with the fact that it was made during the first half of his illness; in a later stage suppression of normal rhythms by slow moderate voltage waves would be expected. The resemblances of kuru, scrapie and "mad cow disease" to C-J disease are discussed. In each of these 4 illnesses the patient or affected animal (scrapie and "mad cow disease") (a) has a widespread spongiform encephalopathy and consequent dementia, myoclonic epilepsy and cerebellar and corticospinal symptoms. (b) Each illness is caused by a virus (or virus-like organism called a PrP or prion) which is unusually resistant to heat and entirely resistant to ultraviolet light and x-rays. (c) This causative agent can be transmitted to other mammals by intracerebral injection or, in the proved cases of 3 of them, by the oral route. Unresolved questions about C-J disease include the following: Are C-J disease, kuru, scrapie and "mad cow disease" essentially similar illnesses caused by the same virus or by subtle variants of it? What is the incubation period of C-J disease, and does its virus exist for long periods of time in some asymptomatic persons, some of whom may never become neurologically ill? How does this virus enter the bodies of most persons with C-J disease, and why does the clinical disease characteristically occur only in middle age?

Animals↗

PubMed2004

Treatment benefit and daily drug costs associated with treating Parkinson's disease in a Parkinson's disease clinic.

OBJECTIVE: In some countries, such as Germany, there has been a move towards the treatment of patients with Parkinson's disease in specialised inpatient units. However, data on patient outcome and the daily costs of antiparkinsonian drugs in these settings are rare. This study was conducted to determine the effect of an inpatient setting (a specialised Parkinson's disease clinic) on drug therapy costs and patient symptoms. PATIENTS AND METHODS: This study involved 63 consecutively referred inpatients of a Parkinson's disease clinic. On entry to the clinic, the patients' antiparkinsonian drug regimen was titrated in order to improve their motor function. The daily costs of drug therapy per patient (in 2002 values) were calculated, and the severity of Parkinson's disease symptoms scored via scores on the Unified Parkinson's Disease Rating Scale (UPDRS) and standardised instrumental procedures (peg insertion and tapping), both initially and at the end of the patients' stay in the clinic. The variables between the two evaluation timepoints were compared. RESULTS: The titration of antiparkinsonian drugs was associated with a significant decrease in the symptoms of Parkinson's disease at discharge from the clinic compared with admission (as measured by UPDRS total and subscale scores [all p < 0.001], and, to a lesser extent, by peg insertion and tapping [both p < 0.05]). A significant increase in daily drug costs (an increase of euro14.11 per patient for all drugs and euro12.36 per patient for antiparkinsonian drugs [both p <0.001]) was also observed. CONCLUSION: The results demonstrate that the symptoms experienced by patients with Parkinson's disease improve after performance of antiparkinsonian drug titration within the setting of a specialised Parkinson's disease clinic. The effect on symptoms was seen most clearly with the UPDRS, although both peg insertion and tapping reflected this improvement to a certain extent. Drug titration resulted in, on average, a doubling of daily drug costs. Future trials are needed to investigate the long-term effects of such a hospital stay on indirect costs associated with treating Parkinson's disease, and on caregiver burden, and also to compare the efficacy of a Parkinson's disease clinic with an outpatient setting.

Adult↗

PubMed2005

Prion disease: a deadly disease for protein misfolding.

An infectious particle, termed prion, composed largely and perhaps solely of a single protein, is the likely causative agent of prion disease. It produces lethal decline of cognitive and motor function. The responsible protein arrives at a pathogenic state by misfolding from a normal form that has ubiquitous tissue distribution. Prion diseases are often called spongiform encephalopathies. Probably most mammalian species develop these diseases. Specific examples in various animals are -Scrapie, Transmissible Mink Encephalopathy (TME ), Chronic Wasting Disease(CWD) and bovine spongiform encephalopathy (BSE). Humans are also susceptible to several prion diseases: Creutzfeld-Jacob Disease (CJD), Gerstmann-Straussler-Scheinker Syndrome (GSS), Fatal Familial Insomnia (FFI), Kuru and Alpers Syndrome. This paper reviews transmission of this diseases, protein involvement, nature of protein, the conversion process from PrP(c) to PrP(Sc), conversion of prion protein in vitro, the different proposed models for the conversion of PrP(c) to PrP(Sc), prion and other amyloid diseases, prion strains, structure of PrP(c) the particular process that may induce prion disease, and immunization against these diseases.

Animals↗