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ABSTRACT: Sporadic inclusion body myositis (sIBM) is the most frequent acquired myopathy above the age of fifty. The exact mechanism causing this disease is not known, but immune-mediated features are prominent and are probably to play a role in its pathogenesis. TREX1 gene mutations are associated with a large range of autoimmune diseases, such as systemic lupus erythematosus. We investigated whether mutations in the TREX1 gene were associated with sIBM.
Fifty-four patients with sIBM were tested for TREX1 mutations by direct sequencing.
All 54 patients tested negative for pathogenic mutations in the TREX1 gene. One presumed non-pathogenic polymorphism was found in 42 out of 54 patients.
TREX1 mutations do not play a role in the pathogenesis of sIBM.
European Journal of Neurology 02/2010; 17(8):1108-9. · 3.69 Impact Factor
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ABSTRACT: Leukocytes are involved in the pathogenesis of idiopathic inflammatory myopathies (IIMs). Immunoglobulin G (IgG) receptors (FcgammaR) link the specificity of IgG to the effector functions of leukocytes. Several FcgammaR subclasses display functional polymorphisms that determine in part the vigour of the inflammatory response. FcgammaRIIIa genotypes were differentially distributed among 100 IIM patients compared with 514 healthy controls with a significant increase of the homozygous FcgammaRIIIa-V-158 genotype (3 x 2 contingency table, chi(2) = 6.3, P = 0.04). Odds ratios (ORs) increased at the addition of each FcgammaRIIIa-V-158 allele, in particular among patients with non-specific myositis and dermatomyositis {OR 2.1 [95% confidence interval (CI) 1.1-4.3] and 2.7 (95% CI 1.1-6.4) for FcgammaRIIIa-V/F158 and FcgammaRIIIa-V/V158 genotypes, respectively, using FcgammaRIIIa-F/F158 as a reference group}. These data suggest that the FcgammaRIIIa-V-158 allele may constitute a genetic risk marker for IIM.
Tissue Antigens 07/2009; 73(6):586-9. · 2.59 Impact Factor
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ABSTRACT: Leukocytes are involved in the pathogenesis of idiopathic inflammatory myopathies (IIMs). Immunoglobulin G (IgG) receptors (FcγR) link the specificity of IgG to the effector functions of leukocytes. Several FcγR subclasses display functional polymorphisms that determine in part the vigour of the inflammatory response. FcγRIIIa genotypes were differentially distributed among 100 IIM patients compared with 514 healthy controls with a significant increase of the homozygous FcγRIIIa-V-158 genotype (3 × 2 contingency table, χ2 = 6.3, P = 0.04). Odds ratios (ORs) increased at the addition of each FcγRIIIa-V-158 allele, in particular among patients with non-specific myositis and dermatomyositis {OR 2.1 [95% confidence interval (CI) 1.1–4.3] and 2.7 (95% CI 1.1–6.4) for FcγRIIIa-V/F158 and FcγRIIIa-V/V158 genotypes, respectively, using FcγRIIIa-F/F158 as a reference group}. These data suggest that the FcγRIIIa-V-158 allele may constitute a genetic risk marker for IIM.
Tissue Antigens 05/2009; 73(6):586 - 589. · 2.59 Impact Factor
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U. A. Badrising,
M. L. C. Maat-Schieman,
J. C. van Houwelingen,
P. A. van Doorn,
S. G. van Duinen,
B. G. M. van Engelen,
C. G. Faber,
J. E. Hoogendijk,
A. E. de Jager,
P. J. Koehler,
M. de Visser,
J. J. G. M. Verschuuren,
A. R. Wintzen
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ABSTRACT: The clinical features of
inclusion body myositis (IBM)
were of minor importance in the
design of consensus diagnostic
criteria, mainly because of controversial
views on the specificity of
signs and symptoms, although
some authors reported "typical"
signs. To re–assess the clinical spectrum
of IBM, a single investigator
using a standard protocol studied a
cohort of 64 patients cross–sectionally.
Symptom onset was before the
age of 50 years in 20% of cases.
Only a few patients (14 %) started
with weakness other than that of
quadriceps, finger flexor or pharyngeal
muscles. The sequence of
power loss was erratic, but onset of
symptoms with quadriceps weakness
predicted an earlier onset of
dysphagia in older patients (≥ 56
years) compared with younger
ones (< 56 years) (p = 0.02). Despite
widespread weakness patients had
favourable scores on three commonly
used function scales and
they kept their employment. Complete
wheel–chair dependency was
rare (3 %). A dominant characteristic
was the anatomical distribution
of afflicted muscles: ventral extremity
muscle groups were more
affected than dorsal muscle groups
and girdle muscles were least
affected, the latter preserving postural
stability. Ankylosis, especially
in extension of the fingers,was frequently
present. Together with the
sparing of intrinsic hand muscles it
was helpful in the preservation of
many skilful movements.
IBM has a unique distribution
of muscle weakness. Ankylotic
contractures are common. We feel
that their joint impact on daily
functioning is characteristic for the
disease.
Journal of Neurology 11/2005; 252(12):1448-1454. · 3.47 Impact Factor
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U A Badrising,
G M Th Schreuder,
M J Giphart,
K Geleijns,
J J G M Verschuuren,
A R Wintzen,
M L C Maat-Schieman,
P van Doorn,
B G M van Engelen,
C G Faber,
J E Hoogendijk,
A E de Jager,
P J Koehler,
M de Visser,
S G van Duinen
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ABSTRACT: Whether autoimmune mechanisms play a role in the pathogenesis of inclusion body myositis (IBM) is unknown. Human leukocyte antigen (HLA) analysis in 52 patients, including 17 with autoimmune disorders (AIDs), showed that patients were more likely to have antigens from the autoimmune-prone HLA-B8-DR3 ancestral haplotype than healthy control subjects, irrespective of the presence of AIDs. Patients lacked the apparently protective HLA-DR53 antigen. The results provide further support for an autoimmune basis in IBM.
Neurology 01/2005; 63(12):2396-8. · 8.31 Impact Factor
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ABSTRACT: Problems in diagnosing sporadic inclusion body myositis may arise if all clinical features fit a diagnosis of polymyositis, but the muscle biopsy shows some rimmed vacuoles. Recently, immunohistochemistry with an antibody directed against phosphorylated neurofilament (SMI-31) has been advocated as a diagnostic test for sporadic inclusion body myositis. The aims of the present study were to define a quantitative criterion to differentiate sporadic inclusion body myositis from polymyositis based on the detection of rimmed vacuoles in the haematoxylin-eosin staining and to evaluate the additional diagnostic value of the SMI-31 staining. Based on clinical criteria and creatine kinase levels in patients with endomysial infiltrates, 18 patients complied with the diagnosis of sporadic inclusion body myositis, and 17 with the diagnosis of polymyositis. A blinded observer counted the abnormal fibres in haematoxylin-eosin-stained sections and in SMI-31-stained sections. The optimal cut-off in the haematoxylin-eosin test was 0.3% vacuolated fibres. Adding the SMI-31 staining significantly increased the positive predictive value from 87 to 100%, but increased the negative predictive value only to small extent. We conclude that (1) patients with clinical and laboratory features of polymyositis, including response to treatment, may show rimmed vacuoles in their muscle biopsy and that (2) adding the SMI-31 stain can be helpful in differentiating patients who respond to treatment from patients who do not.
Neuromuscular Disorders 08/2001; 11(5):447-51. · 2.80 Impact Factor
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U A Badrising,
M Maat-Schieman,
S G van Duinen,
F Breedveld,
P van Doorn,
B van Engelen,
F van den Hoogen,
J Hoogendijk,
C Höweler,
A de Jager,
F Jennekens,
P Koehler,
H van der Leeuw,
M de Visser,
J J Verschuuren,
A R Wintzen
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ABSTRACT: Epidemiologic data on inclusion body myositis (IBM) are scarce, and possibly biased, because they are derived from larger neuromuscular centers. The present nationwide collaborative cross-sectional study, which culminated on July 1, 1999, resulted in identification of 76 patients with IBM and the establishment of a prevalence of 4.9 patients with IBM per million inhabitants in the Netherlands. Several discrepancies suggest that this may be an underestimation. The most frequently identified pitfall in diagnosing IBM was an erroneous diagnosis of polymyositis or motor neuron disease.
Neurology 12/2000; 55(9):1385-7. · 8.31 Impact Factor
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ABSTRACT: In 3 patients, a 72-year-old man, a 62-year-old man and a 73-year-old woman with weakness of respectively the quadriceps femoris, the finger flexors and the pharyngeal muscles, the diagnosis of 'inclusion body myositis' was made. This is a rare, slowly progressive skeletal muscle disorder which is more common in men and after the age of fifty. The activity of serum creatine kinase is often 2-5 times the highest normal value. The electromyogram pattern is myopathic, but can also display neuropathic changes (exclusively). Inclusion body myositis is often misdiagnosed, which can lead to an inappropriate treatment or approach. A frozen muscle biopsy is needed to make cryostat sections for demonstration of myositis with rimmed vacuoles.
Nederlands tijdschrift voor geneeskunde 04/1998; 142(11):553-7.
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ABSTRACT: To assess the frequency of subjective and objective dysphagia and its possible pulmonary sequelae, we prospectively studied 22 out-patients with Parkinson's disease; 15 spouses served as controls. All subjects answered a standard questionnaire concerning swallowing and respiratory functions and underwent barium swallow videofluoroscopy. Possible pulmonary infection was investigated by recordings of body temperature, ESR, leucocyte count, and chest X-ray. Patients had significantly more symptoms than controls, especially choking, piece-meal deglutition and regurgitation. Videofluoroscopy revealed tracheal aspiration in one patient, vestibular aspiration in one patient and in one control. Non-fluent swallowing movements were common in patients: abnormal bolus formation, delayed swallowing reflex, vallecular stasis, and piriform sinus residue. None of the subjects had signs of pulmonary infection. Both subjective and objective oro-pharyngeal dysfunction is frequent in ambulant Parkinson patients, but apparently does not produce demonstrable pulmonary infection.
The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques 03/1994; 21(1):53-6. · 0.97 Impact Factor
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ABSTRACT: The swallowing movements of 22 ambulant patients with Parkinson's disease were examined by videofluoroscopy, 15 spouses serving as controls. The relation between bolus volume and movement of the hyoid bone was studied in the lateral view to assess the adaptation of the pharynx musculature. Although movement characteristics of the hyoid varied considerably both intra- and interindividually, mean values followed typical patterns. In controls, the position of the hyoid before the start of the swallow tended to be lower as the bolus volume increased, apparently to create space in the oral cavity by lowering the floor of the mouth. This trend was not seen in the group of Parkinson patients. We suppose that this specific lack of adaptation represents hypokinesia. The amplitude of the hyoid movement did not change with increasing bolus volumes, either in patients or in controls. Moreover, Parkinson patients had many more aborted swallowing movements ("hesitations") than controls, probably representing defective switching from the voluntary phase of swallowing to the involuntary, automatic phase.
The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques 03/1994; 21(1):57-9. · 0.97 Impact Factor
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U A Badrising,
M. Maat-Schieman,
S G van Duinen,
F C Breedveld,
P A van Doorn,
B G M van Engelen,
F H J van den Hoogen,
J E Hoogendijk,
C J Höweler,
A.E.J. de Jager,
F.G.I. Jennekens,
P. Koehler,
H. van der Leeuw,
M de Visser,
J J G M Verschuuren,
A R Wintzen
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U A Badrising,
M. Maat-Schieman,
M D Ferrari,
A H Zwinderman,
J.A.M. Wessels,
F C Breedveld,
P A van Doorn,
B G M van Engelen,
J E Hoogendijk,
C J Höweler,
A. de Jager,
F.G.I. Jennekens,
P. Koehler,
H. van der Leeuw,
M de Visser,
A. Viddeleer,
J J Verschuuren,
A R Wintzen
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U A Badrising,
G.M.T. Schreuder,
M J Giphart,
K Geleijns,
J J G M Verschuuren,
A R Wintzen,
M. Maat-Schieman,
P van Doorn,
B G M van Engelen,
C G Faber,
J E Hoogendijk,
A.E. Jager,
P J Koehler,
M de Visser,
S G van Duinen
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U A Badrising,
ML Maat-Schieman,
J.C. van Houwelingen,
P A van Doorn,
S G van Duinen,
B G M van Engelen,
C G Faber,
J E Hoogendijk,
A.E.J. de Jager,
P J Koehler,
M de Visser,
J J G M Verschuuren,
A R Wintzen
