PubMed Health⌕ Search

Biomedical subjects

E Waldenström

Publications and source records attributed to E Waldenström.

12 recordsLinked to original sources
PubMed2003

Abdominal malignancies in patients with Wilson's disease.

BACKGROUND: Wilson's disease is associated with heavy copper overload, primarily in the liver. Copper is a toxic metal, and might be expected to be associated with cancer induction, as iron is in haemochromatosis. However, liver cancer is currently believed to be extremely rare in this disease, and other intra-abdominal malignancies have not been reported. AIM: To assess the frequency of abdominal malignant disease in patients with Wilson's disease on long-term follow-up. DESIGN: Retrospective study in two specialist Wilson's disease clinics: Cambridge/London and Uppsala. METHODS: We reviewed the case records of 363 patients seen at three centres: Addenbrooke's Hospital, Cambridge, 1955-1987; the Middlesex Hospital, London, 1987-2000; and the University Hospital, Uppsala, Sweden, 1966-2002. Patients were grouped by length of follow-up: 10-19 years; 20-29 years; 30-39 years; and 40 years or more. RESULTS: No cancers were seen in patients followed for <10 years. For patients in the 10-19 years group, the frequency was 4.2%; at 20-29 years, it was 5.3%; and at 30-39 years, 15%. No cancers were seen in the 40+ years follow-up group. The cancers consisted of hepatomas, cholangiocarcinomas, and poorly differentiated adenocarcinomas of undetermined primary site. DISCUSSION: Patients with Wilson's disease appear to be vulnerable to the formation of aggressive malignant intra-abdominal tumours during long-term follow-up, irrespective of treatment. Ultrasound scanning of the abdomen seems to be a useful screening procedure.

Abdominal Neoplasms↗
PubMed2000

Determination of the frequencies of ten allelic variants of the Wilson disease gene (ATP7B), in pooled DNA samples.

Wilson disease is an autosomal recessive disorder characterised by toxic accumulation of copper in liver, brain and other organs. The disorder is caused by mutations in the ATP7B gene, encoding a copper transporting P-type ATPase. Based on the number of known patients with this diagnosis in Sweden, the prevalence can be estimated to 1 in 250,000 to 300,000, whereas the prevalence of Wilson disease has been estimated to be 1 in 30,000 in other populations. We estimated the prevalence of Wilson disease by determining the Swedish population frequencies of two mutant alleles, making up approximately half the mutations in Swedish Wilson patients, in a large number of DNA samples. In addition we determined the allele frequencies of eight common single-nucleotide polymorphisms (SNPs) in the ATP7B gene. For the analyses we devised two strategies for analysing pooled DNA samples using the quantitative minisequencing method. The two procedures allowed sensitive identification of rare mutant alleles present as a mixture with an excess of the normal allele, as well as accurate estimation of the frequencies of the common SNPs in a large pooled DNA sample.

Adenosine Triphosphatases↗
PubMed1999

Molecular genetic applications of streptavidin-coated manifold supports.

Practical problems of handling large numbers of samples limit the application of molecular genetic procedures in clinical settings and in research. In the present review we describe a multipronged manifold support, coated with streptavidin, that offers distinct advantages in preparative and diagnostic applications. In order to increase the surface available on the manifold, porous Sepharose particles conjugated with streptavidin were attached to the plastic support. This procedure increased the surface by almost three orders of magnitude, permitting sufficient streptavidin to be coupled to the support for most routine applications. The manifold supports have been used for sample preparation and in a number of genetic assays, including allele discrimination assays and DNA sequencing, In all these assay formats the manifold supports allow large numbers of samples to be processed in parallel.

DNA, Complementary↗
PubMed1996

Efficient detection of mutations in Wilson disease by manifold sequencing.

We have applied a solid support for parallel handling and direct loading of sequencing reactions--manifold sequencing--to analyze the coding sequence for the deficient copper transporting P-type ATPase in 24 families with Wilson disease. At least 100 different amplification reactions could be handled in parallel, with a minimal turnaround time of 12 h from isolated genomic DNA to identification of the mutations. Sixteen different mutations were found, accounting for 92% of the mutant genes. Ten of these mutations have not been previously described. Eleven were observed only in single families. Mutation His1069Gln, previously identified as the most prevalent mutation in Northern Europe, was found in one-third of the Northern European chromosomes in our material. Four patients were homozygous for this mutation, and three were homozygous for Thr977Met. The method allowed us to establish the diagnosis of Wilson disease in 24 h in a patient with acute hepatic failure.

Adenosine Triphosphatases↗
PubMed1991

Bernard-Soulier syndrome in two Swedish families: effect of DDAVP on bleeding time.

We present 2 patients with Bernard-Soulier syndrome from two different families. The parents of one of the patients were found to have had common ancestors in the 17th century. The platelet membrane content of glycoprotein (GP)Ib was measured in the patients and their first-degree relatives with an ELISA technique based on monoclonal antibodies. Both patients had very low levels of GPIb. In one of the families the heterozygotes had reduced expression of GPIb but in the other the obligate heterozygotes had normal values, suggesting that the molecular pathology differs between the two families. In both patients, bleeding time was shortened by infusion of DDAVP (1-deamino-8-D-arginine vasopressin), although it was not completely normalised. DDAVP may be of some therapeutic value in cases of Bernard-Soulier syndrome.

Adult↗
PubMed1984

Handedness in Swedish 10-year-olds. Some background and associated factors.

Forty-five left-handed and 46 right-handed 10-year-old children were subjected to a limited set of neurological tests and a square tracing task. 'Pathological' handedness was diagnosed in cases showing poor performance with the non-preferred hand on the squares task. The frequency of left-handedness in the population was estimated at 9.2%. The boy : girl ratio was 1.6:1. 'Pathological' handedness was twice as common among left-handers as among right-handers. Neurological dysfunction was more common in 'pathological' handers, especially left-handers. Reduced pre-. peri- and neonatal optimality was seen in boys with 'pathological handedness'. School achievement problems and behaviour problems were much more common in left-handed boys than in other study groups. The results lend partial support for the extended pathological left-handedness model recently hypothesized by Bishop, but it is suggested that left-handedness in boys is more often a symptom of pathological shift of handedness than is left-handedness in girls.

Achievement↗
PubMed1983

Mental retardation in Swedish urban children: some epidemiological considerations.

The total population of children born in 1971 and living in Gothenburg, Sweden, by the end of 1977 was screened in order to estimate prevalence figures for various neurodevelopmental disorders. Ninety-four percent of all children assessed attended public preschools. Questionnaires aimed at detecting perceptual, conceptual, motor, and attentional deficits were completed by preschool teachers for 72% of children in these schools. Samples of children with and without problems on the questionnaire were given neuropsychiatric examinations. National registers were searched to identify mentally retarded children not in public preschools. The total population frequency figure for unequivocal mental retardation was almost 1% with an additional 1% of the total population deemed to be of borderline intelligence.

Child↗
PubMed1983

Perceptual, motor and attentional deficits in seven-year-old children: neurological and neurodevelopmental aspects.

This study presents the results of neurological assessments of a representative sample of seven-year-old Swedish children with perceptual, motor and attentional deficits and their controls (N = 141). Among those children diagnosed as suffering from minimal brain dysfunction (MBD), the majority showed neurodevelopmental deviations indicative of the "clumsy child syndrome'. However, 20 per cent had slight signs of choreoathetosis, diparesis, hemiparesis or ataxia. Other associated neurodevelopmental deviations are considered. The correlation between neurological findings and background factors is discussed: the MBD group had higher scores for various "organic' background factors than the comparison children, and the children with neurological syndromes had somewhat higher scores than the remaining children with MBD. The difficulties in distinguishing MBD from mental retardation, cerebral palsy and childhood psychoses is clearly illustrated. Long-term follow-up will indicate the prognostic significance of these findings.

Attention↗
PubMed1983

Perceptual, motor and attentional deficits in seven-year-old children. Neurological screening aspects.

In an extensive neuropsychiatric study of seven-year-old children, operational criteria for diagnosing minimal brain dysfunction (MBD) syndrome were used. Detailed behavioural assessment and meticulous neurological examination provided the basis for the MBD diagnosis. The time-consuming specialist examination by the child neurologist was considered too sophisticated for use in everyday clinical practice. Therefore, the results obtained at a short neurodevelopmental screening assessment performed by a child psychiatrist were analysed with the aim of finding a limited set of neurological examination items with high discriminating capacity detecting for MBD syndromes. A set of six such items (diadochokinesis, hopping on one leg, standing on one leg, cutting out a paper circle, associated movements when walking on lateral sides of feet and the labyrinth test of the WISC) produced a minimal rate of misclassified cases. It is argued that this discriminant set may be useful in everyday child psychiatric and pediatric assessment of children who raise suspicion of suffering from MBD.

Attention↗
PubMed1982

Perceptual, motor and attentional deficits in six-year-old children. Epidemiological aspects.

A total population study of 4797 six-year-old children attending the public preschools in the city of Göteborg (Gothenburg) has been carried out. A questionnaire with 34 questions about MBD-related problems was distributed to all pre-school teachers. Three thousand four hundred and forty-eight questionnaires were completed. Factor analysis of the questionnaire and empirical results from a pilot study provided the basis for selecting for further study children with pre-school signs and symptoms suggestive of MBD. Neurological, psychiatric and psychological assessment of 82 children with, and 59 children without, pre-school symptoms of MBD revealed that in the index groups 41% of the children, and in the control group 3% of the children, had MBD. Extrapolation procedures gave a total population frequency of 1.2% with severe MBD and a further 5.9% with mild-moderate MBD. A very large questionnaire refusal rate (28%) is discussed. The relevance of the calculated frequency figures, especially as regards the mild-moderate MBD category, cannot be properly evaluated until long-term follow-up has been completed.

Attention↗
PubMed1978

Hereditary mirror movements--a case report.

A five-year-old girl with abnormal mirror movements is described. The phenomenon is observed in the distal parts of the extremities and is most marked in the hands. An extensive neuropediatric examination including computerized tomography of the brain has not revealed any further abnormalities, nor has it been possible to identify the pathogenetic mechanism. The clinical picture corresponds to that previously reported in cases of hereditary mirror movements--a condition with unknown pathogenesis affecting individuals that in other respects are neurologically normal. The disorder is considered to be dominantly inherited but in this case available data suggest a recessive mode of inheritance. There is no doubt that the girl of this report is getting increasingly embarrassed by her condition. Obviously mirror movements of this degree constitute a slight to moderate handicap.

Child, Preschool↗