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Biomedical subjects

C C Tijssen

Publications and source records attributed to C C Tijssen.

At least 55 records · Page 3Linked to original sources
PubMed1997

Thrombosis of the deep cerebral veins: CT and MRI findings with pathologic correlation.

Deep cerebral vein thrombosis can present with acute, severe neurological symptoms and may be rapidly fatal as in the 20-year-old woman reported here. Although MRI is superior for establishing the diagnosis, CT is usually the first examination performed in the clinical setting. It is therefore important to recognise certain indicators such as extensive bithalamic low density. These and certain other less specific signs are correlated with the MRI and autopsy findings.

Adult↗
PubMed1996

Molecular characterization of properdin deficiency type III: dysfunction produced by a single point mutation in exon 9 of the structural gene causing a tyrosine to aspartic acid interchange.

Inherited properdin deficiency is an X-linked recessive disorder clinically manifested by susceptibility to meningococcal disease. Deficiency of properdin is characterized by complete absence (type I), very low level presence (type II), or the presence of a dysfunctional properdin protein in serum as found in one Dutch family (type III). To better understand the dysfunctional protein on the molecular level, samples from three members of the Dutch family were analyzed by direct genomic sequencing. The sequence of the complete gene, including 10 exons and 9 introns, covering about 6500 bases was determined. The dysfunctional properdin was found to be caused by a single T to G mutation in exon 9, which gives rise to a substitution of a tyrosine by an aspartic acid residue at position 387. This change to a hydrophilic amino acid affects the function of the properdin molecule, although the oligomerization of dysfunctional properdin molecules was similar to that of normal properdin. In binding studies with C3b and properdin in serum, no properdin deposition was detected with the type III deficient serum. Inhibition studies with different decapeptides revealed distinct inhibitory sequences, and indicated also that the part of properdin containing the type III mutation was not directly involved in the binding to C3b. The mutation most likely causes conformational changes that make the properdin molecule dysfunctional by affecting its binding to C3b.

Amino Acid Sequence↗
PubMed1995

[Atrial septal aneurysm and brain infarct: a causal connection?].

In four patients, 2 women aged 24 and 35 and 2 men aged 37 and 47 years, an ischaemic stroke was observed and an atrial septal aneurysm was found as a possible cardiac source of embolism to the brain. Atrial septal aneurysm is a bulging of the fossa ovalis region, that can be visualised by (preferably transoesophageal) echocardiography. In the four patients there were only few other risk factors for ischaemic stroke (migraine, smoking, oral contraceptives). Cerebral angiography was normal in all cases. Recent literature suggests that a causal relationship exists between atrial septal aneurysm and ischaemic stroke. It is still uncertain what treatment is best.

Adult↗
PubMed1995

Fluorescent detection of microsatellite polymorphisms: properdin deficiency linked to PFC microsatellite.

Microsatellite polymorphisms are widely used to map the genes responsible for inherited disorders. The most commonly used detection is based on radioactive labelling and autoradiography. We now present the successful detection of fluorescence-labelled allelic fragments on an automated DNA sequencer. This allows for safer and quicker detection as well as a potential for more efficient processing of the data, e.g. for linkage analysis. The system was tested in the mapping of properdin deficiency, an X-linked condition with increased risk for a severe infection in the affected.

DNA, Satellite↗
PubMed1994

[Sneddon's syndrome: an unusual cause of cerebral infarct at a relatively young age].

Sneddon's syndrome was diagnosed in a man of 56, and two women aged 48 and 22 years. It is a rare disease characterised by the combination of skin lesions (livedo racemosa) and cerebral infarctions at a relatively early age. Apart from the clinical presentation, the diagnosis can sometimes be confirmed by a typical microscopical image of a biopsy taken from a region adjacent to the livedo (endothelitis, perivascular lymphocyte infiltration and hypertrophy of the artery wall). The cause of the syndrome is unknown and a specific therapy is lacking. Early recognition of Sneddon's syndrome may protect patients against unnecessary ancillary investigations.

Adult↗
PubMed1994

Lumbar epidural lipomatosis causing neurogenic claudication in two obese patients.

Two obese patients suffering from neurogenic claudication caused by lumbar epidural lipomatosis are described. Although lumbar epidural lipomatosis is most often related to prolonged use of steroid drugs, obesity has also been reported as a possible cause. Both CT and MRI can demonstrate excess epidural fat; because of the possibility of sagittal views MRI is to be preferred. In one of our patient with neurogenic claudication the excess epidural fat normalised completely after considerable weight reduction and symptoms resolved. Therefore weight reduction might be the initial therapy in an obese patient with symptomatic epidural lipomatosis. When weight reduction fails or when there are urgent clinical reasons, surgical removal of the excess amount of epidural fat should be considered.

Adult↗
PubMed1994

Familial anaplastic ependymoma: evidence of loss of chromosome 22 in tumour cells.

A family with anaplastic ependymomas, histologically verified in three cases and neuroradiologically suggested in a fourth, is presented. Two healthy brothers both had two affected sons. All four male patients were younger than 5 years at the time of diagnosis. Two boys died before the age of 3 years. Genotype analysis (with polymorphic DNA markers for chromosome 22 and interphase cytogenetic analysis) of one of the tumours showed a subpopulation of tumour cells with monosomy of (part of) chromosome 22. Non-neoplastic cells of this patient showed a normal karyotype. These findings give further evidence for the role of a tumour suppressor gene on chromosome 22 in the pathogenesis of familial ependymal tumours.

Brain Neoplasms↗
PubMed1994

Contralateral conjugate eye deviation in acute supratentorial lesions.

BACKGROUND: Conjugate eye deviation (CED) in patients with acute supratentorial lesions is generally directed ipsilateral to the lesioned hemisphere. Incidentally, CED occurs to the contralateral side. We report five new cases and review previously published reports to elucidate the lesion responsible for and the mechanism underlying this phenomenon. CASE DESCRIPTIONS: In a prospective study of 133 consecutive patients with CED caused by an acute supratentorial lesion, 5 patients showed contralateral CED. This was caused by an intracerebral hemorrhage located thalamic (n = 2), frontoparietal (n = 1), and frontoparietotemporal (n = 1). In 1 patient the cause was a subdural hematoma, an association that has not been reported earlier. Four of the 5 patients died. All patients had clinical signs of rostral brain stem dysfunction and a shift of midline structures on computed tomographic scan or at autopsy. CONCLUSIONS: Contralateral CED is always associated with hemorrhagic lesions, most commonly in the thalamus. The prognosis of patients with this sign is generally poor. Involvement of descending oculomotor pathways from the contralateral hemisphere at midbrain level is the most probable explanation for this phenomenon.

Acute Disease↗
PubMed1992

Eye movement disorder: an early expression of the myotonic dystrophy gene?

Eye movement recording (EMR) has been performed in 5 asymptomatic myotonic dystrophy (MyD) gene carriers, 7 mildly affected MyD patients, and 23 age- and sex-matched healthy controls. The purpose of the study was to evaluate whether eye movement abnormalities are an early expression of the MyD gene, and to determine the value of this procedure for detection of otherwise asymptomatic gene carriers. EMR did not reveal any abnormalities in the asymptomatic group, but in the mildly affected group showed significantly (P less than 0.01) decreased maximum velocities of the saccades, compared with controls. The results indicate that EMR may aid in the detection of mildly affected MyD patients. However, true presymptomatic diagnosis with EMR has not yet proven possible.

Adult↗
PubMed1992

Linkage analysis in properdin deficiency families: refined location in proximal Xp.

Properdin is a component of the alternative activation pathway of the complement system. Deficiency or dysfunction of the protein is inherited in an X-linked recessive manner. Affected males have an increased risk of developing meningococcal disease. Six multi-generation families with different types of properdin deficiency were analyzed using microsatellite and other polymorphisms on the X chromosome. Based on multipoint data, it was found that the disease gene maps close to DXS255 (Zmax = 13.3 at theta max = 0.00) and DXS426 (Zmax = 12.9 at theta max = 0.00) on the Xp-arm near the centromere. There was no indication of genetic heterogeneity among the six families analyzed. Thus it is now possible to perform accurate DNA-based determination of the inheritance of the mutation in affected families.

Chromosome Mapping↗
PubMed1992

Foveal photopigment kinetics--abnormality: an early sign in myotonic dystrophy?

Twelve subjects with minimal expression of the myotonic dystrophy (MyD) gene were investigated by retinal densitometry, a technique which has been used to study the properties of photopigments in the living eye and to detect photoreceptor abnormalities. Other investigations included slit-lamp examination, funduscopy, raleigh matches with the anomaloscope, tonometry, and neurological examination, including electroretinography (ERG) and pattern visual evoked potentials recording. Foveal densitometry demonstrated reduced values of the macular photopigment density difference with normal photopigment kinetics in early phases of the disease, even in asymptomatic individuals. The densitometric values correlated with decreased amplitudes of the photopic ERG a-wave. These findings may be explained by loss or dysfunction of the outer segments of foveal receptors. It is yet unknown whether or not these changes are secondary to other observed neuroretinal abnormalities in MyD. The most likely explanation might be an abnormality of the Na, Ca:K exchanger at the level of the outer segments of the photoreceptors whether or not in combination with a dysfunction of voltage generation systems, involving both photoreceptors and retinal pigment epithelium.

Adolescent↗