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Biomedical subjects

B G van Engelen

Publications and source records attributed to B G van Engelen.

At least 19 recordsLinked to original sources
PubMed2006

Falls in patients with neuromuscular disorders.

We monitored the incidence and consequences of falls during a 3-month follow-up in 66 patients with a variety of neuromuscular disorders and in 44 age-matched controls. Patients fell more often than controls (27% versus 5%). Falls frequently caused injuries (minor in 79% of subjects and major in 5%) and were often accompanied by fear of falling (58%) and reduced activities (48%). We conclude that falling is a clinically important problem in patients with neuromuscular disorders.

Accidental Falls↗
PubMed2005

The effect of dantrolene sodium in Very Long Chain Acyl-CoA Dehydrogenase Deficiency.

We present a patient, who experienced recurrent episodes of rhabdomyolysis. Her beneficial response to treatment with dantrolene sodium was previously reported. Adult onset Very Long Chain Acyl-CoA Dehydrogenase (VLCAD) deficiency has been diagnosed only recently. In adults, VLCAD deficiency results in recurrent fasting-, exercise-, or infection-induced muscle stiffness, muscle pain and myoglobinuria caused by rhabdomyolysis. This case illustrates for the first time the beneficial effect of dantrolene in VLCAD deficiency. We discuss the therapeutic mechanism of dantrolene sodium and its possible role as additional treatment modality for patients with VLCAD deficiency.

Acyl-CoA Dehydrogenase, Long-Chain↗
PubMed2004

[Clinical reasoning and decision making in practice. A 23 year old woman with malaise, anorexia, fever and behavior changes].

A 23-year-old woman presented with a history of some months of malaise, anorexia, fever and behavioural changes. She had been examined by a general physician on repeated occasions before coming to the hospital. After physical examination and laboratory investigations, she was sent home. She returned to the hospital the same day with increased drowsiness and headache. Additional diagnostic procedures were performed. An echocardiography showed vegetations on the mitral valve. A CT scan of the brain showed a left frontotemporal haemorrhage. Infective endocarditis with septic embolisation to the brain, which resulted in a cerebral haemorrhage, was diagnosed. The patient was admitted and intravenous antibiotics were administered. Because of haemodynamic instability, a mitral valve replacement was performed on the fifth day of admission. The patient recovered well postoperatively. Four weeks later, she was found in a comatose condition. She died as a result of a second intracerebral haemorrhage, which was probably caused by a mycotic aneurysm. An important lesson to be learned from this case is that endocarditis should be considered in patients with a long history of anorexia, weight loss, malaise and fever, especially when a heart murmur is present. Secondly, if intracranial haemorrhage has occurred in patients with infective endocarditis, therapeutic options should always be discussed with a neurosurgeon, even in those cases where the probability of a mycotic aneurysm is low.

Adult↗
PubMed2004

[Four family members with proximal myotonic myopathy].

A 41-year-old woman had a 15-year history of pain in her thighs and arms, which also became weaker, and a decrease in visual acuity. Her 35-year-old brother, their 38-year-old sister and their 64-year-old mother also had myalgia, myotonia and proximal muscle weakness, and the women also had cataracts. Additional examinations and tests led to a diagnosis of proximal myotonic myopathy (PROMM) in all four cases. Neurological and ophthalmological follow-up was provided on a yearly basis, including ECG. The clinical features of PROMM display similarities to the adult form of myotonic dystrophy (MD) but differ in the proximal localisation of the muscle weakness and the frequent occurrence of pain in the affected muscles. PROMM is an autosomal dominant hereditary multisystemic disorder with a less serious course than MD and is rarely accompanied by cognitive disorders. In most cases, a genetic defect on chromosome 3q21 is the cause of the disease. A probable diagnosis can be made on the basis of the clinical symptoms and the results of simple laboratory tests, and can be confirmed via DNA analysis. As yet, the disorder can only be treated symptomatically, preferably via a multidisciplinary approach by a neurologist, an ophthalmologist, a cardiologist and a rehabilitation specialist.

Adult↗
PubMed2003

[A swollen, painless calf caused by neurogenic muscle (pseudo)-hypertrophy].

Neurogenic muscle (pseudo) hypertrophy of the calf was diagnosed in a 60-year-old man, who presented with chronic, painless and unilateral calf enlargement caused by a chronic S1 radiculopathy due to a lumbar disc hernia in the L5-S1 interspace. The differential diagnosis of a swelling of the calf is extensive. Unilateral painless calf enlargement caused by peripheral nerve disorders is rare and relatively unknown. Neurogenic hypertrophy or pseudohypertrophy of the calf muscles in the context of a chronic S1 radiculopathy has to be included in the differential diagnosis of an unexplained calf enlargement. The underlying pathophysiological mechanism is unclear, but probably includes compensatory hypertrophy, abnormal stretching, and spontaneous electrical activity of denervated muscle fibres.

Diagnosis, Differential↗
PubMed2003

[The anti-synthetase syndrome: muscle disease and multisystem disorder at the same time].

In three women, aged 60, 45 and 38 years, who presented with exertional dyspnoea (due to lung fibrosis) and Raynaud's phenomenon, dermatomyopathy and Raynaud's phenomenon, and symmetrical arthralgia and myalgia, respectively, the anti-synthetase syndrome was diagnosed. The anti-synthetase syndrome consists of myositis, idiopathic interstitial lung disease, polyarthritis and Raynaud's phenomenon. The syndrome is characterised by the presence of autoantibodies directed against aminoacyl-tRNA synthetases. A thorough knowledge of this syndrome is required to anticipate manifestations of the disease, which can sometimes be masked and are not always part of the treating physician's field of specialty. The patients were treated with immunosuppressive therapy (azathioprine, prednisone, methotrexate) and recovered considerably.

Adult↗
PubMed2002

Clinical and serological characteristics of 125 Dutch myositis patients. Myositis specific autoantibodies aid in the differential diagnosis of the idiopathic inflammatory myopathies.

The idiopathic inflammatory myopathies (IIM) are a heterogeneous group of systemic diseases that include the familiar disease entities of dermatomyositis (DM), polymyositis (PM), and inclusion body myositis (IBM). A subset of patients has unique autoantibodies which are specific for IIM (myositis specific autoantibodies; MSAs). We studied the clinical and serological characteristics of IIM in 125 Dutch patients. Sera were analysed by immunoblotting, enzyme-linked immunosorbent assay, and immunoprecipitation. The most frequently encountered MSA was the anti-Jo-1 autoantibody (20%), followed by anti-tRNAHis (6%), anti-Mi-2 (6%), and anti-SRP (4%). The presence of certain MSAs was clearly associated with specific clinical characteristics. Anti-Jo-1 and anti-tRNAHis were associated with the anti-synthetase syndrome, anti-SRP with PM with severe myalgia and arthralgia and a moderate response to immunosuppressive treatment. A novel finding was the presence of anti-Mi-2, not only in DM, but also in PM. MSAs were frequently present in DM/PM sera, but were hardly ever detected in the sera of IBM patients. The few IBM patients with MSAs demonstrated a significant response to immunosuppressive treatment. It can be concluded that MSAs define specific clinical syndromes within the spectrum of IIM and that they can assist in the differential diagnosis and treatment plan of these enigmatic disorders by virtually excluding IBM by their presence, and by potentially identifying a subgroup of steroid-responsive IBM patients.

Adenosine Triphosphatases↗
PubMed2001

Mononeuropathy multiplex as the initial manifestation of neurofibromatosis type 2.

The authors report a patient with neurofibromatosis type 2 (NF2) presenting with an axonal mononeuropathy multiplex. Sural nerve biopsy showed small scattered groups of Schwann cells transformed into irregular branching cells with abnormal cell-cell contacts. The authors hypothesize that defective Schwann cell function, due to inactivation of the NF2 gene product merlin, leads to changes in morphology, cell-cell contact, and growth, and finally to degeneration of axons.

Axons↗
PubMed2001

HLA class I and II in Lambert-Eaton myasthenic syndrome without associated tumor.

Lambert-Eaton myasthenic syndrome (LEMS) is an autoimmune disorder, in which antibodies against voltage-gated calcium channels located at nerve terminals cause muscle weakness and autonomic dysfunction. In approximately half of the patients the autoimmune process is initiated by a tumor. In the other half of patients no tumor is found and the etiology is unknown. The aims of this study were to investigate the strength of HLA-associations with nontumor LEMS (NT-LEMS) and to study the relation of HLA-haplotypes with age at onset of LEMS and other clinical features. Therefore, typing of HLA class I and II was performed in 19 patients with NT-LEMS, who were clinically evaluated. NT-LEMS was significantly associated with alleles of both HLA-class I (i.e. HLA-B8) as well as -class II (i.e. HLA-DR3 and -DQ2). HLA-B8+ patients had significantly younger age at onset of LEMS and tended to be female. This study shows that HLA-class I haplotype is associated with a distinct phenotype in NT-LEMS.

Adolescent↗
PubMed2001

Decreased immunoglobulin class switching in Nijmegen Breakage syndrome due to the DNA repair defect.

Nijmegen breakage syndrome (NBS) is a rare chromosomal-instability syndrome associated with defective DNA repair. Approximately 90% of NBS patients are homozygous for a truncating mutation of the NBS1 gene. As development of the immune system relies on recombination, which involves repair of DNA breaks, one might predict that mutations in the NBS1 gene could cause immunodeficiency. We immunologically investigated the world's largest series of NBS patients (n = 74), confirmed immunodeficiency, and found a discrepancy between relatively normal IgM concentrations, and decreased IgG and IgA concentrations. In addition, a significant relation between low IgA and low IgG levels was found. These data are compatible with a defective class switching in NBS and can be explained by a role of the NBS1 protein in DNA repair, signal transduction, cell cycle regulation or apoptosis.

Age Factors↗
PubMed2001

Adipose tissue thickness affects in vivo quantitative near-IR spectroscopy in human skeletal muscle.

The influence of adipose tissue thickness (ATT) on near-IR spectroscopy (NIRS) measurements in vivo was studied in the human flexor digitorum superficialis muscle at rest and during sustained isometric handgrip exercise. NIRS was used for the quantitative measurement of muscle O(2) consumption (mV.O(2)) and forearm blood flow (FBF) in 78 healthy subjects. Skinfold thickness ranged from 1.4 to 8.9 mm within the group. Resting mV.O(2) was 0.11+/-0.04 ml of O(2).min(-1).100 g(-1), and FBF was 1.28+/-0.82 ml.min(-1).100 ml(-1). There was a negative correlation (r=-0.70, P< or =0.01), indicating a decrease in mV.O(2) with increasing ATT. mV.O(2) in the 10 leanest subjects appeared to be twice as high as that in the 10 subjects with the highest ATT. A poor correlation (r=0.29, P< or =0.01) was found between ATT and FBF. The gender difference that we found for mV.O(2) was due to the difference in ATT between female and male subjects. No correlation was found between maximum voluntary contraction and mV.O(2), nor between maximum voluntary contraction and ATT, indicating that the contraction force did not confound our results. These results show that ATT has a substantial confounding influence on in vivo NIRS measurements, and that it is essential to incorporate this factor into future NIRS muscle studies in order to justify comparisons between different groups. To facilitate such comparisons, upper and lower boundaries for normal values of mV.O(2) and FBF in relation to ATT are presented.

Adipose Tissue↗
PubMed2001

Scheie syndrome presenting as myopathy.

We investigated two brothers with Scheie syndrome whose only complaint was exercise intolerance. In the quadriceps muscle biopsy of both patients, between the normal muscle fibres an increased number of markedly swollen periodic acid-Schiff-positive fibroblasts were seen. Ultrastructurally, these cells showed an accumulation of enlarged lysosomes, partly filled with electro-dense material. We hypothesize that the accumulation of pathological fibroblasts may interfere with intramuscular force transmission resulting in exercise intolerance.

Adolescent↗
PubMed2001

Propagation disturbance of motor unit action potentials during transient paresis in generalized myotonia: a high-density surface EMG study.

Patients with autosomal recessive generalized myotonia, or Becker's disease, often suffer from a peculiar transient paresis. As yet, the relationship between this transient paresis and the defect in the gene encoding for a voltage gated Cl- channel protein in the muscle membrane of these patients is unclear. In order to gain a better understanding of the electrophysiological properties of the muscle fibre membrane in these generalized myotonia patients, we have studied transient paresis with a novel high-density surface EMG (sEMG) technique. We conclude that the transient paresis is explained by a deteriorating muscle membrane function, ending in conduction block and paresis. Multi-channel sEMG during the period of force decline in transient paresis shows a decrease in peak-peak amplitude of the motor unit action potentials from endplate towards tendon. This disturbance increases with time and place, indicating a deteriorating membrane function, and ends in a complete blocking of propagation within seconds. Spatiotemporally, this leads to a V-shaped sEMG pattern. In a more general sense, this contribution shows how spatiotemporal information, available through non-invasive high-density sEMG, may provide novel insights into electrophysiological aspects of membrane dysfunction.

Action Potentials↗
PubMed2001

Myositis-specific autoantibodies: overview and recent developments.

Myositis-specific autoantibodies (MSAs) are found in almost half the patients with an idiopathic inflammatory myopathy (IIM). Several clinical and epidemiological studies have suggested that MSAs are associated with specific clinical characteristics. Some of these associations are well-defined and are of clinical significance ( eg, anti-Jo-1 and the anti-synthetase syndrome), others are less well established and can cause unnecessary anxiety for both patients and physicians ( eg, anti-SRP and cardiac involvement). In this review, an overview is given of the various MSAs, their biochemical background, their clinical usefulness, and the promises they hold for a better understanding of IIM.

Autoantibodies↗
PubMed2001

Autoantibody profiles in the sera of European patients with myositis.

OBJECTIVE: To determine the prevalence of myositis specific autoantibodies (MSAs) and several myositis associated autoantibodies (MAAs) in a large group of patients with myositis. METHODS: A total of 417 patients with myositis from 11 European countries (198 patients with polymyositis (PM), 181 with dermatomyositis (DM), and 38 with inclusion body myositis (IBM)) were serologically analysed by immunoblot, enzyme linked immunosorbent assay (ELISA) and/or immunoprecipitation. RESULTS: Autoantibodies were found in 232 sera (56%), including 157 samples (38%) which contained MSAs. The most commonly detected MSA was anti-Jo-1 (18%). Other anti-synthetase, anti-Mi-2, and anti-SRP autoantibodies were found in 3%, 14%, and 5% of the sera, respectively. A relatively high number of anti-Mi-2 positive PM sera were found (9% of PM sera). The most commonly detected MAA was anti-Ro52 (25%). Anti-PM/Scl-100, anti-PM/Scl-75, anti-Mas, anti-Ro60, anti-La, and anti-U1 snRNP autoantibodies were present in 6%, 3%, 2%, 4%, 5%, and 6% of the sera, respectively. Remarkable associations were noticed between anti-Ro52 and anti-Jo-1 autoantibodies and, in a few sera, also between anti-Jo-1 and anti-SRP or anti-Mi-2 autoantibodies. CONCLUSIONS: The incidence of most of the tested autoantibody activities in this large group of European patients is in agreement with similar studies of Japanese and American patients. The relatively high number of PM sera with anti-Mi-2 reactivity may be explained by the use of multiple recombinant fragments spanning the complete antigen. Furthermore, our data show that some sera may contain more than one type of MSA and confirm the strong association of anti-Ro52 with anti-Jo-1 reactivity.

Antibody Specificity↗