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P J Poels

Publications and source records attributed to P J Poels.

18 recordsLinked to original sources
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↗
PubMed2001

Cobalamin supplementation improves cognitive and cerebral function in older, cobalamin-deficient persons.

BACKGROUND: Mild cobalamin (Cbl) deficiency is frequently found in older persons and is associated with cognitive and cerebral abnormalities. The effects of Cbl supplementation on these abnormalities are largely unknown. METHODS: In a single-blind, placebo-controlled intervention study, 16 healthy community-dwelling elderly subjects with low plasma Cbl concentration and no cognitive impairments were studied. Subjects underwent 1 month of treatment with placebo, followed by 5 months of treatment with intramuscular injections of hydroxycobalamin. Before and after measurements of plasma cobalamin, total homocysteine (tHcy), methylmalonic acid (MMA), quantitative electroencephalograph (qEEG), and psychometric tests were taken. RESULTS: After Cbl supplementation, plasma Cbl concentrations increased, and plasma MMA and tHcy concentrations decreased. The performance on the Verbal Word Learning Test, Verbal Fluency and Similarities improved. qEEG showed more fast activity and less slow activity. Lower plasma tHcy concentrations were related to increased fast activity on qEEG on the one hand and improved performance on the Verbal Word Learning Test and Similarities on the other. Increased fast or decreased slow activity on qEEG was associated with improved performance on the Verbal Word Learning Test, Similarities and Verbal Fluency. CONCLUSIONS: Electrographic signs of improved cerebral function and improved cognitive function were found after Cbl supplementation in older subjects with low plasma Cbl concentrations who were free of significant cognitive impairment. These improvements were related to a reduction of plasma tHcy concentration.

Aged↗
PubMed2000

Posterior dislocation fractures of the shoulder in seizure disorders--two case reports and a review of literature.

We present two patients with complaints of shoulder pain after an epileptic seizure. Both patients had a posterior dislocation fracture of the shoulder. After reviewing the literature the following conclusions can be drawn: (1) A posterior shoulder dislocation fracture is rare. (2) One should not underestimate the muscular forces in seizure disorders and be alert for dislocation fractures of the shoulder and/or other joints. (3) The diagnosis is frequently missed, but an axillary radiograph or a CT scan always reveals the fracture.

Adult↗
PubMed1998

Cerebrospinal fluid methylmalonic acid concentrations in neurological patients with low and normal serum cobalamin concentrations.

OBJECTIVE: To determine whether cerebrospinal fluid (CSF) methylmalonic acid (MMA) is increased in neurological patients with low serum cobalamin (Cbl, vitamin B12) concentrations as opposed to neurological patients with normal serum Cbl concentrations. MATERIAL AND METHODS: We measured MMA concentrations in serum and CSF of neurological patients with low serum cobalamin concentrations, but without overt cobalamin related manifestations such as anemia or combined disease of the cord, and neurological patients with normal serum cobalamin concentrations (controls). RESULTS: Serum and CSF MMA concentrations were significantly higher in patients than in controls. Serum MMA was elevated in 4 patients of whom 3 had clearly elevated CSF MMA concentrations. CONCLUSION: Strong indications for cobalamin deficiency can be found not only in serum but also in CSF of patients with seemingly asymptomatic low serum cobalamin concentrations.

Adult↗
PubMed1997

[Subnormal vitamin B6 levels in theophylline users].

OBJECTIVE: To study the effect of theophylline use on the vitamin B-6 status. DESIGN: Descriptive. SETTING: Department of Geriatric Medicine of Nijmegen Academic Hospital and Department of Pulmonary Diseases, University of Nijmegen, the Netherlands. PATIENTS AND METHODS: Vitamin B-6 status was determined by measuring pyridoxal-5'-phosphate (PLP) in whole blood (using a high performance liquid chromatography method, reference values: 35-107 mumol/l) in 141 patients from the Geriatric department (84 non-chronic obstructive pulmonary disease (COPD), 40 COPD patients without theophylline and 17 COPD patients with theophylline) and in 25 non-geriatric COPD patients on theophylline. RESULTS: Of the 84 geriatric non-COPD patients (mean age: 82 years; SD: 6) 56% had a subnormal vitamin B-6 status, of the 40 geriatric COPD patients without theophylline (82 years; SD: 6) 70%, of the 17 geriatric COPD patients on theophylline (80 years; SD: 5) 94% and of the 25 non-geriatric COPD patients on theophylline (62 years; SD: 11) 96%. CONCLUSION: In patients who used theophylline a higher prevalence of subnormal vitamin B-6 status was found than in patients who did not.

Aged↗
PubMed1996

Quantitative gait analysis in patients with vascular parkinsonism.

Until now the clinical criteria for the diagnosis of vascular parkinsonism (VP) have been disputed. The purpose of the present study is to investigate whether quantitative gait analysis can differentiate between the gait pattern of patients with VP and the gait pattern of patients with idiopathic Parkinson's disease (PD). Twelve patients with VP, 12 patients with PD, and 10 neurologically nondiseased controls were examined by quantitative gait analysis. Patients with VP, having a similar gait velocity and stride length, showed relatively preserved arm swing with markedly more anteflexion in the shoulder on the forward sway of the arm swing than patients with PD. Patients with VP also showed less flexion dystonic posture of the elbow, hip, knee, and trunk than did patients with PD. There was no significant difference in the excursions and coordination of arm swing in the patients with VP compared with the control group. Both patient groups showed reduced leg movements, reduced hip extension, and reduced knee flexion and extension as compared with the controls.

Aged↗
PubMed1995

Rhabdomyolysis and acute encephalopathy in late onset medium chain acyl-CoA dehydrogenase deficiency.

A previously asymptomatic 30 year old man presented with rhabdomyolysis, muscle weakness, and acute encephalopathy after strenuous exertion in the cold without adequate food intake. Serum and muscle carnitine concentrations were decreased. Urinary excretion of carnitine and glycine esters and biochemical examination of skeletal muscle and fibroblasts led to the diagnosis of medium chain acyl-CoA dehydrogenase (MCAD) deficiency. A point mutation at nucleotide position 985 of the coding region of the MCAD gene was found. The MCAD protein was synthesised in the patient's fibroblasts at a normal rate, but was unstable. In general, patients in whom the 985 point mutation has been established show much more severe clinical symptoms and other symptoms than those seen in this patient. The relation of the 985 point mutation and the residual MACD activity to the symptoms is not as straightforward as previously thought.

Acyl-CoA Dehydrogenase↗
PubMed1995

MRI in patients with suspected vascular parkinsonism.

To determine whether MRI can reveal more vascular lesions in patients clinically suspected of having vascular parkinsonism, we compared 15 such patients with 15 patients who had idiopathic Parkinson's disease and 10 hypertensive controls. Patients with suspected vascular parkinsonism had significantly more subcortical lesions than those with Parkinson's disease or hypertension. The cutoff point that best distinguished patients with suspected vascular parkinsonism from patients with Parkinson's disease was a 0.6% level of lesioned brain tissue volume. There were two types of vascular parkinsonism: one had an acute onset and lesions located in the subcortical gray nuclei (striatum, globus pallidus, thalamus); the other had an insidious onset and lesions diffusely distributed in the watershed areas.

Aged↗
PubMed1994

Deafness, sensory neuropathy, and ovarian dysgenesis: a new syndrome or a broader spectrum of Perrault syndrome?

We report on 3 sibs (2 males and one female) with sensorineural deafness. The presence of ovarian dysgenesis in the girl suggested a diagnosis of Perrault syndrome. In addition our patients have a sensory polyneuropathy and amelogenesis imperfecta. Two of the patients have mild mental retardation, fine choreatic movements, and dyspraxia. It is discussed whether these findings are part of a separate clinical entity or should be included within the spectrum of the Perrault syndrome.

Abnormalities, Multiple↗
PubMed1993

Rhabdomyolysis: a review of the literature.

Rhabdomyolysis (lysis of skeletal muscle cells) is a potentially lethal syndrome with a broad spectrum of clinical and biochemical findings. Myalgia, pigmenturia and elevated activity of serum creatine kinase are the common features. Fulminant rhabdomyolysis may be associated with severe metabolic disturbances and involvement of other organ systems. Cardiac arrest, compartment syndrome and acute renal failure are the major complications. The extent of the life-threatening complications of rhabdomyolysis strongly depends on early diagnosis and adequate therapy. As the repair mechanism of striated muscle functions very well, the prognosis of adequately treated rhabdomyolysis is excellent. This article reviews the present state of knowledge of clinical and biochemical diagnosis of rhabdomyolysis, the pathophysiologic background, the classification and the etiological provocative factors.

Adult↗
PubMed1993

Exertional rhabdomyolysis in a patient with calcium adenosine triphosphatase deficiency.

A patient with exertional rhabdomyolysis and continuously elevated serum creatine kinase (CK) was investigated. The known causes of recurrent attacks of rhabdomyolysis were ruled out by appropriate histochemical and biochemical investigations. During ischaemic exercise tests an abnormal K(+)-efflux from exercising muscles was observed. The patient was found to have a deficiency of muscular Ca(2+)-ATPase. Dantrolene sodium therapy gave relief of muscle symptoms and improved the exercise tolerance. Both the CK level and the K(+)-efflux in ischaemic forearm testing became normal on this therapy.

Adult↗
PubMed1993

Rhabdomyolysis associated with malaria tertiana in a patient with myoadenylate deaminase deficiency.

A male patient presented with malaria tertiana due to Plasmodium vivax. He developed a severe attack of rhabdomyolysis with acute renal failure. The patient was treated successfully with chloroquine medication. After complete recovery further muscle study revealed a deficiency of myoadenyl deaminase (MAD). The infection with P. vivax probably has been the triggering factor in the process of muscle necrosis, because the patient also had MAD deficiency.

AMP Deaminase↗
PubMed1991

In vitro contraction test for malignant hyperthermia in patients with unexplained recurrent rhabdomyolysis.

A few cases of non-anaesthetic-induced rhabdomyolysis in humans, predisposed to malignant hyperthermia (MH), have been described in literature. We studied a group of 6 consecutive patients with unexplained and recurrent attacks of rhabdomyolysis with the test used to determine susceptibility to MH, the in vitro contraction test (IVCT). The results of the IVCT showed 5 of these 6 patients to be MH susceptible. In cultured muscle cells from one of these patients a disturbed calcium homeostasis could be demonstrated. The relation between MH and recurrent rhabdomyolysis is discussed.

Adult↗
PubMed1990

Dantrolene sodium does influence the second-wind phenomenon in McArdle's disease. Electrophysiological evidence during exercise in a double-blind placebo-controlled, cross-over study in 5 patients.

Five patients with McArdle's disease entered a double-blind, placebo-controlled, cross-over study of dantrolene sodium. None of the patients experienced beneficial effect of dantrolene sodium medication. Each patient performed 2 exercise tests. Surface EMG during exercise tests without medication showed a temporary increase in EMG activity during the adaptation phase. Quite unexpectedly however, in view of the negative clinical results, this electrophysiological manifestation of muscle fatigue during the adaptation phase diminished or disappeared in all patients investigated when dantrolene sodium was used.

Adult↗
PubMed1990

Conversion disorders in childhood: a retrospective follow-up study of 84 inpatients.

The medical histories of 84 children who had been diagnosed as having conversion disorder were reviewed in a follow-up study, and the validity of this diagnosis was examined. The female:male ratio was 2.1:1, although below the age of 10 the ratio was almost equal. The medical histories of 62 per cent of the patients showed an organic illness, and 51 per cent had various slight to moderate EEG disturbances. The validity of the diagnosis was very high: only five were found to have organic disease during the follow-up period. Children with symptoms of conversion disorder should receive appropriate medical investigations, but the authors question whether extensive investigations could not be replaced by screening tests, combined with early psychiatric intervention.

Adolescent↗