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Biomedical subjects

O F Brouwer

Publications and source records attributed to O F Brouwer.

At least 73 records · Page 4Linked to original sources
PubMed1995

Facioscapulohumeral muscular dystrophy in the Dutch population.

Extrapolating the figures from a previous study on FSHD in a province of The Netherlands to the entire Dutch population suggests that at present a nearly complete overview is obtained of all symptomatic kindred. In 139 families, dominant inheritance was observed in 97, a pattern compatible with germline mosaicism in 6, while sporadic cases were found in 36 families. A mutation frequency of 9.6% was calculated. Mental retardation and severe retinal vasculopathy were reported in low frequencies (1%). Early onset was seen more frequently in sporadic cases. Chromosome 4 linkage appeared excluded in 3 of 22 autosomal-dominant families. The clinical pictures in the linked and nonlinked families were identical.

Age of Onset↗
PubMed1994

Facioscapulohumeral muscular dystrophy in early childhood.

OBJECTIVE: To determine the occurrence and the clinical and genetic variability of early-onset facioscapulohumeral muscular dystrophy (FSHD). DESIGN: Patients were derived from a large series of patients who participated in a genetic study of FSHD in the Netherlands. PATIENTS: A group of 96 patients of 17 families with autosomal dominant FSHD, nine sporadic cases of FSHD, and 35 children at risk for having the FSHD gene was searched for the presence of early-onset cases. Criteria for early-onset FSHD were (1) signs or symptoms of facial weakness before the age of 5 years and (2) signs or symptoms of shoulder girdle weakness before the age of 10 years. RESULTS: Six early-onset cases (four familial, two sporadic) were identified. Four of five cases showed an abnormal DNA fragment with the probe p13E-11, which has been shown to detect DNA rearrangements in FSHD patients. The clinical symptoms in these early-onset cases showed great variability with respect to rate of progression of muscle weakness, the association of hearing loss and retinopathy, and the expression of the disorder in parents and siblings. CONCLUSIONS: Infantile FSHD has been suggested to be a separate form of the disease, often accompanied by sensorineural hearing loss and retinal telangiectasia. Our findings, as well as the fact that both hearing loss and retinal vasculopathy have been recently shown to be part of FSHD, suggest that early-onset FSHD is not a separate entity, but part of a wide clinical spectrum of FSHD.

Adolescent↗
PubMed1994

Unsuccessful dietary treatment of Sjögren-Larsson syndrome.

We treated five children with Sjögren-Larsson syndrome. The patients, 5 months to 8 years of age, were given a low fat diet supplemented with medium-chain fatty acids. Plasma octadecanol levels remained unchanged, and skin lesions and neurologic symptoms did not abate. Two patients also failed to respond to dietary supplementation with polyunsaturated fatty acids. We conclude that dietary therapy is usually unsuccessful in patients with Sjögren-Larsson syndrome even when started in early infancy.

Child, Preschool↗
PubMed1994

Electrical brain activity in preterm infants at risk for intracranial hemorrhage.

We studied the effect of preterm birth on electroencephalographic background activity in 20 infants < 32 weeks' gestation. Six infants developed periventricular-intraventricular hemorrhage during the study period. Four-channel 24-h cassette recordings were obtained on day 1, 3-5 and 7-9. For each of the 24-h recordings, the percentage of the time showing stage I (continuous activity), stage II (mixed activity) and stage III (discontinuous activity) epochs was calculated. In infants without periventricular-intraventricular hemorrhage, a positive linear relationship between gestational age and continuous activity and a negative linear relationship between gestational age and discontinuous activity existed in the first day recordings; in infants with periventricular-intraventricular hemorrhage, such relationships were not found. To determine if the changes in continuous and discontinuous activities during the first week of extrauterine life were different from the expected changes during a corresponding time in utero, we calculated the expected amounts of stage I and III changes for each infant. The actual changes were not significantly different from the expected values in both study groups. However, during the onset and/or extension of periventricular-intraventricular hemorrhage, depression of the electroencephalographic background activity was found.

Brain↗
PubMed1993

[Neurological conversion disorders in older children].

BACKGROUND: Conversion symptoms with a neurological character are not unusual in children. Little is known about prognosis. This study aimed to determine the outcome in a group of children with conversion. PATIENTS AND METHODS: Over the period 1979-1989 35 children from 6 to 16 who met DSM-III-R criteria for conversion were selected from the case-records of the Child Neurology department of the University Hospital in Leiden. Case histories were analysed and 20 patients were interviewed at home and a standard questionnaire was used additionally. RESULTS: Conversion symptoms disappeared with time in 15 patients. In comparison with the control group, patients with conversion scored higher on nervousness. CONCLUSION: Conversion disorder runs a favourable course. The place of child psychiatric treatment should be analysed prospectively.

Adolescent↗
PubMed1993

Molecular study of chromosome 15 in 22 patients with Angelman syndrome.

DNA studies in 22 families with Angelman syndrome (AS) were performed using the chromosome 15 marker loci D15S9, D15S10, D15S11, D15S12, D15S13, D15S18, D15S24, D15S86, the alpha-actin gene and the GABA beta 3 receptor gene (GABRB3). Uniparental disomy of chromosome 15 was excluded in all patients. Eighteen AS patients (82%) showed a molecular deletion of chromosome 15q11-q13 with one or more of these markers. No duplications of junction fragments, bridging deletions or duplication breakpoints were observed. The GABRB3 gene was deleted in all deletion-positive patients tested. Analysis of maternal DNA indicated that each deletion was a de novo event. All deletions were of maternal origin; this is in agreement with genomic imprinting in AS.

Actins↗
PubMed1993

Facioscapulohumeral muscular dystrophy: the impact of genetic research.

Recent developments in genetic research have led to the localization and identification of the causative gene defect in a large number of neurological diseases. This paper describes some of the basic principles of molecular genetics and the strategies that have been followed in the search for the gene for facioscapulohumeral muscular dystrophy (FSHD), beginning with the recent localization to chromosome 4q. Many questions remain concerning the pathogenesis and possible genetic heterogeneity of this autosomal dominant myopathy. Hitherto, most evidence favours a genetically homogeneous disorder, but only the isolation and detailed characterization of the FSHD gene will resolve these issues completely.

Chromosome Aberrations↗
PubMed1992

Follow-up magnetic resonance imaging in Hallervorden-Spatz disease.

Bilateral high signal emitting areas in the globus pallidus surrounded by low signal emitting areas have been described as a typical MRI finding in Hallervorden-Spatz disease (HSD). We made a diagnosis of HSD in an 11-year-old girl with progressive dystonia of 4 years duration who showed these typical MRI abnormalities. An initial MRI at the age of 9 was normal. Pathological confirmation of these typical MRI findings has not yet been described, but earlier reports as well as our case suggest that MRI may be helpful in making a clinical diagnosis of HSD. This case further shows that MRI may be normal in an early stage of the disease.

Child↗
PubMed1992

Muscle fiber conduction velocity in the diagnosis of sporadic hypokalemic periodic paralysis.

A 6-year-old girl presented with episodes of profound muscle weakness since the age of 2 years. On the basis of decreased ictal serum potassium level and lack of metabolic disorder, primary hypokalemic periodic paralysis (HPP) was diagnosed. Both parents and 3 sibs were unaffected clinically. In all of them asymptomatic heterozygosity was very unlikely by the finding of normal muscle fiber conduction velocities, whereas in the patient interictal muscle fiber conduction velocity was lowered. Determination of muscle fiber conduction velocity can be helpful in documenting sporadic occurrence of HPP.

Child↗
PubMed1992

Increased neurotoxicity of arsenic in methylenetetrahydrofolate reductase deficiency.

A 16-year-old girl from Surinam presented with mental deterioration and severe paraparesis with areflexia and bilateral Babinski signs. Laboratory examination showed a hyperhomocysteinemia that was caused by 5,10-methylene-tetrahydrofolate reductase (MTHFR) deficiency. In addition, urine samples contained large amounts of arsenic. An open bag with the pesticide copper acetate arsenite was found to be the source of exposure. In remethylation defects such as MTHFR deficiency, the concentration of methyldonors is severely reduced. As arsenic is detoxified by methylation, we suggest that the MTHFR deficiency in this girl might explain the fact that of all family members exposed to arsenic, only she developed severe clinical signs and symptoms of arsenic poisoning.

Adolescent↗
PubMed1992

Conventional and controlled release valproate in children with epilepsy: a cross-over study comparing plasma levels and cognitive performances.

We studied plasma levels and behavioural effects of a newly developed controlled release formulation of valproate (VPA-CR) in children with epilepsy. Valproate plasma levels and performances in attention and vigilance tasks were monitored during a 12-h period (daytime), both during monotherapy of conventional valproate (VPA) and 4 weeks after switching to a similar dosage of VPA-CR taken once daily. There was no significant difference between the two formulations with respect to mean diurnal trough and peak valproate plasma levels, and to mean fluctuation. The significantly higher Cmax/Cmin ratio during VPA-CR seems mainly due to low valproate plasma levels early in the morning. Neuropsychological assessment showed no significant differences, either between patients and controls, or within patients and controls when comparing the results obtained on the VPA and VPA-CR day. During both VPA and VPA-CR treatment, no correlation was found between cognitive performance and valproate plasma levels. The advantage of VPA-CR is that the once daily regimen may increase compliance and is more convenient for schoolchildren.

Adolescent↗
PubMed1992

The influence of handedness on the distribution of muscular weakness of the arm in facioscapulohumeral muscular dystrophy.

The strength of 10 muscle groups in both arms was measured using hand-held myometry to determine the influence of handedness on left-right differences of muscle strength in facioscapulohumeral muscular dystrophy (FSHD). Two groups of subjects were studied: 24 healthy volunteers (19 right-handed), and 53 patients (42 right-handed) with autosomal dominant FSHD. An opposite left-right difference of strength of shoulder and arm muscles was found: right-handed volunteers were stronger on the right side, right-handed patients were stronger on the left side. This opposite left-right difference was statistically significant for the supraspinatus muscle, the wrist extensors and the shoulder internal rotators. The number of left-handed subjects was too small for statistical analysis. The relation between handedness and increased muscle weakness in right-handed FSHD patients suggests that mechanical factors may play a distinct role in the progression of muscle weakness in FSHD.

Adolescent↗
PubMed1992

Oculoauriculovertebral spectrum and cerebral anomalies.

We report on three Dutch children with a clinical diagnosis of oculoauriculovertebral spectrum (OAVS) and hydrocephalus. The clinical features are compared to 15 published cases of OAVS and hydrocephalus. Several other cerebral abnormalities were present in the whole group. About half of the cases had cleft lip/palate, anophthalmia/microphthalmia, or a cardiac defect. Mental retardation was found in five of the surviving 11 patients and early death occurred in one-third. We compared the cases with OAVS and hydrocephalus with published reports of OAVS and other cerebral anomalies and found no significant clinical differences. However, the clinical characteristics were clearly more severely expressed than generally found in patients with OAVS. Children with OAVS and more severe clinical features, especially anophthalmia/microphthalmia and cleft lip/palate, seem to be at an increased risk for cerebral malformations and for mental retardation.

Child, Preschool↗
PubMed1992

Homocystinuria.

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Homocystinuria↗
PubMed1992

Genetic linkage map of facioscapulohumeral muscular dystrophy and five polymorphic loci on chromosome 4q35-qter.

A genetic map of five polymorphic markers in the area of the facioscapulohumeral muscular dystrophy (FSHD) gene on chromosome 4q35-qter has been constructed. With these five markers, a number of recombinants have been identified that allow ordering of the marker and the disease loci. The most likely locus order and the relative position of the FSHD gene supported by the recombinants is centromere-D4S171-F11-D4S187-D4S163-D4S139-FS HD-telomere. However, at least one recombination event appears to be inconsistent with this order and suggests a location of FSHD proximal to D4S139.

Base Sequence↗
PubMed1991

Watershed infarction after near drowning in a two year old child.

Cerebral watershed infarctions usually occur after a period of acute and severe systemic hypotension resulting in a distinctive clinical picture. We present a two year old girl who developed watershed infarctions after a near drowning accident. The clinical features and diagnostic aspects are described.

Cerebral Infarction↗