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Biomedical subjects

P A Van Doorn

Publications and source records attributed to P A Van Doorn.

At least 19 recordsLinked to original sources
PubMed2006

Residual fatigue is independent of antecedent events and disease severity in Guillain-Barré syndrome.

The occurrence of severe fatigue after Guillain-Barré syndrome (GBS), and its relation with disease course, clinical characteristics, and antecedent infections was studied in 100 GBS patients. Severe fatigue, expressed as a mean Fatigue Severity Scale (FSS) score of 5.0 or more, was present in 60% of all patients. It was more frequently present in females and in patients over 50 years (p < 0.01). There was no significant relationship between fatigue severity and the level of functional disability at nadir, antecedent events or infections, clinical variables, and time to follow-up after GBS.

Adult↗
PubMed2006

Course of disability and respiratory function in untreated late-onset Pompe disease.

Fifty-two untreated patients with late-onset Pompe disease completed questionnaires about their clinical condition and level of handicap at baseline and at 1-year (n = 41) and 2-year follow-ups (n = 40). During this period, declines in functional activities, respiratory function, handicap, and survival were recorded on a group level. This study illustrates the progressiveness of late-onset Pompe disease and indicates the need for close clinical follow-up of both children and adults with this disorder.

Adolescent↗
PubMed2005

Disease severity in children and adults with Pompe disease related to age and disease duration.

Information about 255 children and adults with Pompe disease was gathered through a questionnaire. Disease severity was associated with disease duration and not with age; an early manifestation of the disease implied earlier wheelchair or ventilator dependency. The patient group under age 15 included a subgroup with a more severe and rapid course of the disease. They require more intensive follow-up and early intervention, before irreversible damage has occurred.

Activities of Daily Living↗
PubMed2005

Clinical manifestation and natural course of late-onset Pompe's disease in 54 Dutch patients.

Late-onset Pompe's disease (acid maltase deficiency, glycogen storage disease type II) is a slowly progressive myopathy caused by deficiency of acid alpha-glucosidase. Current developments in enzyme replacement therapy require detailed knowledge of the kind and severity of symptoms and the natural course of the disease in the patient population. A detailed questionnaire covering the patients' medical history and current situation was developed and information was gathered from 54 Dutch patients. The mean age of the participants was 48.6 +/- 15.6 years. The first complaints started at a mean age of 28.1 +/- 14.3 years and were mostly related to mobility problems and limb-girdle weakness. Fifty-eight percent of the adult patients indicated the presence of mild muscular symptoms during childhood. Twenty-eight percent of the patients waited >5 years for the final diagnosis after the first visit to a physician for disease-related complaints. At the time of questionnaire completion, 48% of the study population used a wheelchair and 37% used artificial ventilation. Movements such as rising from an armchair, taking stairs or getting upright after bending over were difficult or impossible for more than two-thirds of the respondents. The age at onset, the rate of disease progression and the sequence of respiratory and skeletal muscle involvement varied substantially between patients. Seventy-six percent of the participants indicated being troubled by fatigue and 46% by pain. This survey has mapped the age at onset, presenting symptoms, heterogeneity in progression and range of disease severity in a large group of Dutch patients. We conclude that early manifestations in childhood require proper attention to prevent unnecessary delay of the diagnosis. The follow-up of patients with late-onset Pompe's disease should focus on respiratory and limb-girdle muscle function, the capacity to perform daily activities, and the presentation of fatigue and pain.

Adolescent↗
PubMed2004

Late-onset Pompe disease primarily affects quality of life in physical health domains.

OBJECTIVE: To investigate quality of life in an international population of patients with late-onset Pompe disease. METHODS: Data on quality of life (SF-36), age, sex, disease duration, wheelchair use, and use of artificial ventilation were collected for 210 adults with Pompe disease from Australia, Germany, the Netherlands, the United Kingdom, and the United States. SF-36 scores were compared between countries and related to patient characteristics. In addition, for the Dutch subgroup (n = 51), comparisons with the general population and 1-year follow-up assessments were performed. RESULTS: No significant differences between countries were found for the four physical health scales. Mean scores on the vitality, role functioning-emotional, and mental health scale differed between countries, but these differences were not consistent. Wheelchair use was associated with lower physical and social functioning scores (B = -23.6 and -15.1, p < 0.001), and the use of artificial ventilation with lower physical functioning scores (B = -8.4, p = 0.004). Patients reported significantly poorer quality of life than the general population on the physical functioning, role functioning-physical, general health, vitality, and social functioning scales. No significant differences in SF-36 scores were found between the baseline and 1-year follow-up measurement. CONCLUSIONS: Patients with late-onset Pompe disease are, on average, markedly affected on the physical health domains of quality of life, but score only slightly lower than the general population on the mental health domains.

Age of Onset↗
PubMed2002

Infections and course of disease in mild forms of Guillain-Barré syndrome.

OBJECTIVE: Twenty-eight percent of patients with the Guillain-Barré syndrome remain able to walk unaided. Studying patients with the mild form of Guillain-Barré syndrome can further contribute to knowledge of the spectrum of the syndrome and explore whether this subgroup may need treatment with IV immunoglobulin. METHODS: Patients fulfilling the National Institute of Neurologic and Communicative Disorders and Stroke criteria for Guillain--Barré syndrome were included in a nationwide survey over a 2-year period. Clinical characteristics and serum samples were collected prospectively. In addition, a questionnaire was completed concerning the course and outcome of the disease. RESULTS: A total of 139 patients were included. Nineteen of the patients (14%) included were mildly affected, and 120 (86%) were severely affected. Infections with Epstein-Barr virus were found more frequently in mildly affected patients (p = 0.02). Antiganglioside antibodies were less frequently found in the mildly affected patients (p = 0.03). The degree of severity of the disease between mildly and severely affected patients was different on the day of admission (p < 0.01). Thereafter, the groups showed a remarkably similar rate of progression. Thirty-eight percent of mildly affected patients report problems in hand function and an inability to run at 3 and 6 months (all women, p = 0.02). CONCLUSION: The difference in severity of Guillain--Barré syndrome seems to be determined in an early phase of the disease. Preceding infections and antiganglioside antibodies may influence the initial immune attack, determining the severity of the disease. The presence of residual signs in patients with mild disease may advocate the use of early treatment in mildly affected patients.

Bacterial Infections↗
PubMed2002

Structure of Campylobacter jejuni lipopolysaccharides determines antiganglioside specificity and clinical features of Guillain-Barré and Miller Fisher patients.

Ganglioside mimicry in the lipopolysaccharide (LPS) fraction of Campylobacter jejuni isolated from Guillain-Barré syndrome (GBS) and Miller Fisher syndrome (MFS) patients was compared with isolates from patients with an uncomplicated enteritis. The antibody response to C. jejuni LPS and gangliosides in neuropathy patients and controls was compared as well. LPS from GBS and MFS-associated isolates more frequently contained ganglioside-like epitopes compared to control isolates. Almost all neuropathy patients showed a strong antibody response against LPS and multiple gangliosides in contrast to enteritis patients. Isolates from GBS patients more frequently had a GM1-like epitope than isolates from MFS patients. GQ1b-like epitopes were present in all MFS-associated isolates and was associated with anti-GQ1b antibody reactivity and the presence of oculomotor symptoms. These results demonstrate that the expression of ganglioside mimics is a risk factor for the development of post-Campylobacter neuropathy. This study provides additional evidence for the hypothesis that the LPS fraction determines the antiganglioside specificity and clinical features in post-Campylobacter neuropathy patients.

Antibodies, Bacterial↗
PubMed2002

Difference in distribution of muscle weakness between myasthenia gravis and the Lambert-Eaton myasthenic syndrome.

BACKGROUND: Myasthenia gravis and the Lambert-Eaton myasthenic syndrome (LEMS) may have a similar distribution of muscle weakness. Deciding on a diagnosis of myasthenia gravis or LEMS on clinical grounds may therefore be difficult. OBJECTIVE: To compare the localisation of initial muscle weakness and the distribution of weakness at the time of maximum severity in patients with myasthenia gravis and LEMS. SUBJECTS: 101 patients with myasthenia gravis and 38 patients with LEMS. RESULTS: In myasthenia gravis, initial weakness involved extraocular muscles in 59%, bulbar muscles in 29%, and limb muscles in 12% of the patients. In LEMS no patient had ocular weakness, 5% had bulbar weakness, and 95% had weakness of the limbs as the first symptom (p < 0.001). At the point of maximum severity, weakness in myasthenia gravis was purely ocular in 25%, oculobulbar in 5%, restricted to the limbs in 2%, and present in both oculobulbar muscles and limbs in 68%. At this point, none of the LEMS patients had weakness restricted to extraocular or bulbar muscles (p = 0.002). The legs were affected in all LEMS patients, whereas in 12 patients with generalised myasthenia gravis limb weakness was restricted to the arms (p = 0.024). CONCLUSIONS: In a patient suspected to have a myasthenic syndrome whose first symptom is ocular weakness, LEMS is virtually excluded. Limb weakness confined to the arms is only found in generalised myasthenia gravis and not in LEMS. Muscle weakness in myasthenia gravis tends to develop in a craniocaudal direction, and in the opposite direction in LEMS.

Adolescent↗
PubMed2001

Antiganglioside antibodies in polyneuropathy associated with monoclonal gammopathy.

Antibody reactivity to GA1, GM1, GM2, GD1a, GD1b, and GQ1b gangliosides was measured in 87 patients with polyneuropathy associated with monoclonal gammopathy (60 IgM, 25 IgG, 2 IgA) and 42 control patients with monoclonal gammopathy without polyneuropathy (21 IgM, 21 IgG). Of these 87 patients, 30% had anti-myelin-associated glycoprotein antibodies and 15% had antiganglioside antibodies. Antiganglioside antibodies were significantly associated with demyelinating neuropathy and with IgM monoclonal gammopathy. Anti-GD1b and anti-GQ1b antibodies were significantly associated with predominantly sensory ataxic neuropathy.

Adult↗
PubMed2001

Changes in referral pattern and its effect on outcome in patients with Guillain-Barré syndrome.

The authors assessed the referral pattern and outcome in patients with Guillain-Barré syndrome (n = 266) after the introduction of intravenous immunoglobulin (IVIg). Fewer patients were transferred from small to large hospitals after the introduction of IVIg (p = 0.05). This did not result in a worse outcome in patients treated in small centers. The introduction of IVIg has led to a better use of different levels of health care facilities.

Guillain-Barre Syndrome↗
PubMed2001

Diagnostic and classification criteria for the Guillain-Barré syndrome.

BACKGROUND: Diagnostic criteria for the Guillain-Barré syndrome (GBS) have been available since 1978. Since then, several variants have been described. More recently, a distinction has been made between pure motor forms, severe sensory forms, primary axonal and primary demyelinating varieties. Associations of clinical characteristics, and specific infections and the presence of antiganglioside antibodies have been found. For further studies on GBS, it is therefore necessary to reconsider the available diagnostic criteria and add additional criteria for subclassification. METHODS: A panel of (20) experts was formed. The literature representing the recent developments in GBS subclassification was reviewed. Following a consensus protocol, diagnostic and classification criteria were formulated. RESULTS: The diagnosis of GBS can usually be made on clinical characteristics. A schedule for subclassification has been made to cover also the clinical variants in a systematic manner.

Autoantibodies↗
PubMed2000

Treatment of multifocal motor neuropathy with interferon-beta1A.

Nine patients with multifocal motor neuropathy who had previously responded favorably to IV immunoglobulins (IVIg) were treated with interferon-beta1a. Muscle strength and disability were evaluated. In six patients there was no effect of treatment. Four patients deteriorated in such a way that IVIg had to be restarted during the study. Three patients showed an improvement that was more pronounced than on IVIg. These patients had a shorter disease duration and were less affected clinically and electrophysiologically than those who did not respond.

Action Potentials↗
PubMed2000

Mild forms of Guillain-Barré syndrome in an epidemiologic survey in The Netherlands.

OBJECTIVE: Assessment of incidence rates of Guillain-Barré syndrome (GBS) in the Netherlands over a 10-year period; investigation of a relationship between possible seasonality in GBS and the occurrence of preceding infections; and determination of distinctive characteristics in patients with GBS who are only mildly affected (able to walk unaided at nadir). METHOD: Records of patients with GBS admitted between 1987 and 1996 from all 45 hospitals in the southwest Netherlands were evaluated, covering a population of 4.2 million inhabitants. RESULTS: A total of 476 patients met National Institute for Neurological and Communicative Disorders and Stroke criteria for GBS. This resulted in a crude incidence rate (IR) of 1.18/100,000 inhabitants. This IR increased linearly with age (p < 0.001). Men were more frequently affected than women (p < 0.001). No seasonal preponderance for GBS, nor for any of the preceding infections, was found. Patients under 50 years of age (p < 0.001) and men (p = 0.01) were more frequently found in the mildly affected group. In both groups a preceding infection was reported in 70% of the cases. In the severely affected group, serologic evidence for infection with Campylobacter jejuni, cytomegalovirus, Epstein-Barr virus, or Mycoplasma pneumoniae was found more frequently than in the mildly affected group (41% versus 16%, p = 0.001). CONCLUSIONS: Overall IR in the Netherlands are similar to those found in other studies. The incidence increases linearly with age and men are more frequently affected than women. Distinctive characteristics for mildly and severely affected patients were found regarding age, sex, and preceding infections. This suggests that other infectious agents or host factors may be involved in mild forms of GBS.

Data Collection↗
PubMed1999

Rapidly progressive, predominantly motor Guillain-Barré syndrome with anti-GalNAc-GD1a antibodies.

OBJECTIVE: To investigate the presence of anti-GalNAc-GD1a antibodies in patients with Guillain-Barré syndrome (GBS) and to determine the relation of anti-ganglioside antibodies with clinical features. BACKGROUND: The GBS is heterogeneous with regard to clinical manifestations, antecedent infections, and the presence and specificity of anti-ganglioside antibodies. Recently, antibodies to minor gangliosides have been identified in serum from GBS patients. METHODS: The authors used ELISA to detect anti-ganglioside antibodies in 132 GBS patients and then correlated results with a database containing information on antecedent infections and clinical parameters. RESULTS: Anti-GalNAc-GD1a antibodies could be detected in 19 (14%) GBS patients. The presence of anti-GalNAc-GD1a antibodies was related to antecedent Campylobacter jejuni infection (p<0.001). GBS patients with anti-GalNAc-GD1a antibodies had a rapidly progressive, more severe, and predominantly distal weakness. Furthermore, they had less sensory loss, paresthesia, and cranial nerve involvement. In most patients, this reactivity was independent of reactivity to GM1. Dividing patients into separate groups based on their reactivity to GalNAc-GD1a and GM1 enabled the authors to delineate more homogeneous subgroups with regard to clinical features. CONCLUSIONS: This study provides further evidence for the hypothesis that antecedent infections and the specificity of subsequent anti-neural antibody responses determine the clinical manifestations in GBS patients.

Adolescent↗
PubMed1998

Genetic heterogeneity in Miyoshi-type distal muscular dystrophy.

Miyoshi-type distal muscular dystrophy (MMD) is an autosomal recessively inherited progressive disorder. The putative locus of MMD is linked to the limb-girdle muscular dystrophy 2B locus on chromosome 2p12-14. In this study three of four MMD pedigrees show non-linkage to the region spanned by D2S134-D2S358-D2S145 on chromosome 2p, indicating genetic heterogeneity. A genome wide screen was performed to identify loci linked to MMD. In two non-chromosome 2-linked families, a 23 cM region on chromosome 10 segregated with MMD.

Adult↗
PubMed1997

Binocular saccadic eye movements in multiple sclerosis.

We attempted to increase the sensitivity for detection of abnormal binocular saccadic eye movements, particularly of the internuclear ophthalmoplegia (INO) type associated with multiple sclerosis (MS). Saccades of 10 and 20 degrees were binocularly recorded with scleral sensor coils in 10 normal control subjects and 26 patients with definite or probable MS, seven of whom had a clinically manifest INO in one or both directions. In the cases in which this was accompanied by a dissociated nystagmus of the abducting eye, our recordings showed that such secondary saccades were also expressed, in a strongly reduced form, by the adducting eye. The patients with manifest INO showed lower average peak velocities and peak accelerations, especially for adduction of the eye on the affected side, but the distribution of these parameters overlapped with the normal distribution. A much sharper distinction between normals and patients with INOs was found by considering the ratios between peak accelerations and velocities of saccade pairs (abducting eye/adducting eye). These ratios, which eliminate much intra- and inter-individual variability, had a narrow range in normals, and all values for INOs were outside this range. On this basis, the 19 patients without clinically manifest INO were easily separated into subgroups of 14 patients with completely normal interocular ratios and five patients with elevated peak velocity and acceleration ratios, identified as sub-clinical (uni- or bilateral) INOs. Measurements of vertical saccades and of interocular timing differences provided no useful criteria for disturbances of binocular coordination in MS. We conclude that in particular, the acceleration of the adducting eye is strongly reduced in patients with an INO, and that this reduction is best identified by interocular comparison between binocular pairs of saccades.

Adult↗