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Biomedical subjects

E Brodtkorb

Publications and source records attributed to E Brodtkorb.

34 records · Page 2Linked to original sources
PubMed1994

Identification of a frequent pseudodeficiency mutation in the fumarylacetoacetase gene, with implications for diagnosis of tyrosinemia type I.

In healthy individuals, fumarylacetoacetase (FAH) activities close to the range found in hereditary tyrosinemia type 1 (HT1) patients indicated the existence of a "pseudodeficiency" allele. In an individual homozygous for pseudodeficiency of FAH and in three HT1 families also carrying the pseudodeficiency allele, western blotting of fibroblast extracts showed that the pseudodeficiency allele gave very little immunoreactive FAH protein, whereas northern analysis revealed a normal amount of FAH mRNA. Sequencing revealed an identical mutation, C1021-->T (Arg341Trp), in all the pseudodeficiency alleles. Site-directed mutagenesis and expression in a rabbit reticulocyte lysate system demonstrated that the C1021-->T mutation gave reduced FAH activity and reduced amounts of the full-length protein. Bs1EI restriction digestion of PCR products distinguished between the normal and the mutated sequences. Among 516 healthy volunteers of Norwegian origin, the C1021-->T mutation was found in 2.2% of the alleles. Testing for the C1021-->T mutation may solve the problem of prenatal diagnosis and carrier detection in families with compound heterozygote genotypes for HT1 and pseudodeficiency.

Base Sequence↗
PubMed1993

Non-convulsive status epilepticus in the adult mentally retarded. Classification and role of benzodiazepines.

Non-convulsive status epilepticus (NCS) is rarely encountered and may appear with a psychiatric mask. As clouding of consciousness is the major ictal manifestation, the condition may easily be overlooked in the mentally retarded. We have studied 11 mentally retarded patients with NCS. Since NCS with a focal onset may have a generalized ictal EEG pattern, a classification of NCS solely based on the seizure classification may be misleading. In some patients, it is impossible, both clinically and on the basis of EEG recordings, to distinguish between continuous complex partial seizures and atypical absences. We therefore propose a revised classification of NCS based on the ictal EEG pattern and the epilepsy syndrome diagnosis (I) NCS in generalized epilepsy syndromes, (II) NCS in localization-related epilepsy, (a) with localized EEG features, (b) with generalized EEG features, and (c) with transitional EEG features, and (III) undetermined NCS. Four of our patients were classified as Group I, two as Group IIa, one as Group IIb, one as Group IIc, and three as Group III. Benzodiazepines at small or standard doses may be ineffective in terminating NCS, particularly in the Lennox-Gastaut Syndrome. The identification of trigger factors is essential. Drugs seemed to be the most important precipitants in our patients; in three, NCS was induced by recurrent rectal diazepam over-administration. This complication of rectal diazepam treatment in epilepsy has not been addressed previously.

Adult↗
PubMed1993

Neuroleptic and antiepileptic treatment in the mentally retarded.

The mentally retarded often need concomitant antiepileptic and neuroleptic drug treatment. High doses of neuroleptic drugs may provoke seizures. Antiepileptic drugs may aggravate behavioural problems. The mutual influence of neuroleptic and antiepileptic drug treatment and the effect of seizure control were studied in 20 mentally retarded patients between 1980 and 1989. The treatment was tailored individually, aiming at the lowest effective dose. Carbamazepine was preferred to phenobarbital and phenytoin. The mean defined daily dose (DDD) of neuroleptics and antiepileptics was reduced by 64% and 5%, respectively. Changing the mean DDD of neuroleptics neither correlated significantly with seizure activity nor with the change of the mean DDD of the antiepileptics. Evidently, seizure control may be improved by small neuroleptic doses in some patients. In one patient, however, a non-convulsive status epilepticus was associated with the introduction of neuroleptics. The assumption that carbamazepine has a beneficial effect on behavioural problems was not supported. Apparently, changing the regime of antiepileptics contributed to less neuroleptic requirements, possibly through reduced side-effects and/or improved seizure control. When combining neuroleptics and antiepileptics, interactions should always be considered. The epileptogenic effect of small to standard doses of neuroleptic drugs should, however, not be overemphasized.

Adult↗
PubMed1992

Epilepsy and anomalies of neuronal migration: MRI and clinical aspects.

Neuronal migration disorders are the result of disturbed brain development. In such disorders, neurons are abnormally located. In diagnosing these conditions, magnetic resonance imaging is superior to any other imaging technique. This enables us to improve our knowledge of the clinical correlates of neuronal migration. With reference to migrational disorder, a retrospective study of all 303 patients with epileptic seizures referred for magnetic resonance imaging during a 3-year period was performed, 13 patients (aged 12-41, mean age 27) were identified. They represent 4.3% of the entire study group. Of the patients with known epilepsy, 6.7% and of the mentally retarded, 13.7% had migrational disorders. Four patients had schizencephaly as the dominant finding, one was classified as hemimegalencephaly, 2 had isolated heterotopias, and 6 had localized pachy- and/or poly-microgyria. The clinical pictures are complex. Ectopias of grey matter are recognised foci of epilepsy, but from an epileptological and a clinical viewpoint little attention has been given to these disorders. The present study shows that malmigration is not rare in epilepsy patients, especially not in the mentally retarded.

Adolescent↗
PubMed1991

[Treatment of Parkinson disease with levodopa depot preparations].

The majority of parkinsonian patients on long-term treatment with levodopa develop fluctuations in motor performance. Several of the features of long-term levodopa treatment seem to be associated with levodopa concentrations in the plasma. In order to overcome the dose-related clinical fluctuations, sustained or controlled-release oral tablets have been developed to achieve more stable plasma concentrations of the drug. This paper describes a Norwegian multi-centre study of Sinemet CR in 56 patients with mild to moderate parkinsonism. After 24 weeks on Sinemet CR the performance of 40 patients was evaluated as improved, i.e. better than when they were treated with standard levodopa. Patients with mild disease or with no motor fluctuations experienced similar clinical benefit from controlled-release levodopa as the more advanced parkinsonian patients. The authors also discuss the advantages and problems of controlled-release levodopa in parkinsonian patients in general.

Aged↗
PubMed1990

[Alcohol and epileptic seizures].

Epileptic seizures in alcohol abusing patients have different pathogenetic mechanisms and may occur at different stages of alcohol induced illness. It may be difficult to separate withdrawal seizures from real epilepsy. Detailed knowledge of the differential diagnosis and the effect of alcohol on the central nervous system is essential for correct management of the seizures. We give a synopsis of the classification of alcohol-related seizures, and discuss the indications for anticonvulsive treatment.

Alcoholism↗
PubMed1990

Hyperventilation syndrome: clinical, ventilatory, and personality characteristics as observed in neurological practice.

The symptoms of the hyperventilation syndrome (HVS) are sometimes diffuse, and HVS may resemble other clinical conditions. A diagnosis of HVS was made in 25 patients referred for neurological assessment because of atypical, shortlasting, episodic complaints. The referral diagnoses varied within a wide range. A need for more indepth knowledge about this group of patients thus arose. During a provocation test with forced respiration, all patients reported symptoms similar to those during attacks. Eight patients described numbness or paraesthesias with unilateral predominance. End-tidal pCO2 levels were monitored prior to and during a forced hyperventilation test. Compared with controls, the patients had significantly decreased end-tidal pCO2 even during symptom free periods. After hyperventilation, hypocapnia followed a protracted course in the patient group. Sensory symptoms may be asymmetric and mimic focal cerebral disease. Strained respiration may be denied during spontaneous attacks. Personality characteristics were evaluated with the Minnesota Multiphasic Personality Inventory (MMPI). A mean group profile very similar to profiles reported on "pseudoepileptic" patients was found. The profile indicates a neurotic pattern where patients tend to respond to psychological stress with somatic symptoms.

Adolescent↗
PubMed1988

Transdermal scopolamine in drooling.

The effect of oral anticholinergic drugs has been limited in the treatment of drooling. Transdermal scopolamine (1.5 mg/2.5 cm2) offers advantages. One single application is considered to render a stable serum concentration for 3 days. A distinct reduction of basal salivation was demonstrated in an open trial of six healthy volunteers. Eighteen mentally retarded patients with a drooling problem were studied in a double-blind, placebo-controlled cross-over trial. The therapeutic effect of transdermal scopolamine was assessed by a visual analogue scale. Three patients dropped out due to loss of the system. In the remaining 15 patients, the active drug caused a reduction of drooling which was significant in the period from 24 to 72 h. There were few and slight objective signs of unwanted effects. Scopoderm may cause drowsiness and affect tooth health. The management of drooling should primarily be focused on the cause. Sensomotor training is often valuable in cerebral palsy. Factors such as nasal obstruction, mucosal irritation, and drug-induced parkinsonism should be given attention. Sometimes, however, a temporary symptomatic treatment is indicated, for example on special occasions or in order to cure peri-oral skin lesions. Transdermal scopolamine may offer this possibility.

Administration, Cutaneous↗
PubMed1986

Peripheral neuropathy and monoclonal IgM with antibody activity against peripheral nerve myelin; effect of plasma exchange.

Serum IgM antibodies directed against peripheral nerve myelin were demonstrated using enzyme-linked immunosorbent assay, mixed haemagglutination and indirect immunofluorescence in 3 patients with chronic polyneuropathy and monoclonal serum IgM. Isoelectric focusing followed by antigen immunofixation and autoradiography showed that the antimyelin antibodies co-migrated with the monoclonal IgM. Plasma exchange alone, without chemotherapy, proved beneficial in 2 patients. In one patient, plasma exchange was discontinued because of low IgG levels. Serum IgM and antimyelin antibodies decreased during plasma exchange and no increase beyond initial levels was noted after cessation of treatment.

Adult↗
PubMed1986

The pre- and post-natal diagnosis of tyrosinemia type I and the detection of the carrier state by assay of fumarylacetoacetase.

Fumarylacetoacetase has been determined in fibroblasts, lymphocytes and/or liver tissue from 46 patients affected or presumed to be affected with tyrosinemia type I and in fibroblasts or lymphocytes from 80 obligate or presumed obligate heterozygotes. Eleven patients did not have deficient enzyme activity and 11 parents did not have intermediate enzyme activities compatible with heterozygosity for tyrosinemia. In altogether 15 of the 51 families investigated the fumarylacetoacetase activity of the patient and/or the parents was not compatible with tyrosinemia in the family. Prenatal determination of fumarylacetoacetase, in cultured amniotic fluid cells or chorionic villus material, has been performed in 24 pregnancies at risk or presumed to be at risk for a child with tyrosinemia. In six cases the enzyme activity was deficient, consistent with an affected foetus. Elevation of succinylacetone was found in 32 of the 35 patients with fumarylacetoacetase deficiency when the enzyme assay was carried out. In two cases with deficient fumarylacetoacetase activity, succinylacetone was searched for but had not been found to be elevated when the enzyme defect was demonstrated. Succinylacetone, if searched for, was not elevated in any of the cases with normal fumarylacetoacetase activity.

Adult↗
PubMed1983

Correlations between echo-encephalographic and computer tomographic measures of third and lateral ventricle size in children and adults.

Accuracy of echo-encephalography (EVG) was assessed by comparison with computer-tomography (CT) in a material of 49 children aged 2 weeks to 15.5 years and 158 adults aged 17 to 83 years. Third ventricle width could be measured on EVG in all the patients, and the correlations with CT values were excellent both in children and adults (r = 0.89 and r = 0.94, respectively). Lateral ventricle echoes could be recorded in 43 children (87.7%) and in 95 adults (60.1%). There were very good correlations between lateral ventricle size estimated as LVI (lateral ventricle index on EVG) and BI (body index on CT) both in children and adults (r = 0.84 and r = 0.86, respectively). In adults, a fairly large proportion (46.3%) of the patients where lateral ventricle echoes could be recorded, apparently had essentially normal ventricle systems, although there was evidence that these echoes could be recorded more easily from widened ventricles.

Adolescent↗
PubMed1982

Diagnosis of herpes simplex encephalitis. A comparison between electroencephalography and computed tomography findings.

In a series of six cases of encephalitis caused by herpes simplex virus, type 1, the diagnostic and prognostic value of the electroencephalogram (EEG) was investigated. Special interest was focused on the time relationship between the appearance of abnormal EEG findings, the initial clinical symptoms and the changes in cranial computed tomography (CT). The characteristic periodic EEG pattern can be demonstrated within 2 days of disease, before typical structural changes appear in CT. A unilateral periodic pattern may be associated with a good prognosis, whereas all patients with bilateral changes died in spite of specific antiviral therapy.

Adult↗