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J Zaremba

Publications and source records attributed to J Zaremba.

At least 73 records · Page 4Linked to original sources
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[Prenatal diagnosis: an attempt at evaluation of effectiveness and risk based on the experience of one center].

We present the results of prenatal diagnosis in 2241 women carried out in one centre in the period 1985-1994. Indications were cytogenetic in 84% of the cases, of those in 77% it was maternal age 35 years and over. The second most frequent indication was open neural tube defect in a previously born child (7.5%). Abnormal results of prenatal tests in whole material were obtained in 60 cases (2.4%); in 47 cases this was chromosomal aberration. Abnormal result of prenatal test did not necessarily mean selective termination of pregnancy. In 17.5% of chromosomal fetal aberrations pregnancy was continued (it concerned mostly aberrations involving sex chromosomes). The risk of prenatal diagnosis (miscarriage due to the procedure) according to our estimation was between 0.3 and 0.6% of the tested pregnancies. Sociological analysis of the tested group showed clearly that women with better education (secondary and higher level) in Poland have much better access to prenatal diagnosis. Most of the tested woman (72%) considered a prenatal test a sine qua non condition of their procreation.

Adult↗
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[Autosomal dominant spinocerebellar ataxia].

The modern classification is presented based on genetic criteria of the group of degenerative nervous system diseases inherited as autosomal dominant trait and called collectively spinocerebellar ataxia (SCA). They belong mostly to the class of diseases of similar mutation mechanism in which amplification is present of the trinucleotide sequence (CAG)n. Clinical picture and neuropathological changes in various SCA types are compared.

DNA Mutational Analysis↗
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[Adrenomyeloneuropathy: a form of X-linked adrenoleukodystrophy. Report of a family].

A family with adrenoleucodystrophy linked to chromosome X (X-ALD) is reported. Three patients, one man (proband) and two female monozygotic twins, had adrenomyeloneuropathy (AMN) which is a form of the disease. The proband had characteristic changes in MRI with demyelination of the white matter in the cerebral hemispheres. Both women (one of them was proband's mother) has somewhat less severe AMN form, but in her twin sister the syndrome was much more intense. The clinical diagnosis of the disease was confirmed by biochemical investigations--determination of the level of very long chain fatty acids, ALDP protein and the activity of peroxysomal beta-oxidation.

Adrenoleukodystrophy↗
PubMedDate not supplied

[Detecting carriers of a deletion in the dystrophin gene in families with a single case of Duchenne/Becker muscular dystrophy].

A search for female mutation carriers was performed in 40 families with an isolated case of Duchenne/Becker muscular dystrophy due to a deletion in the dystrophin gene. Intragenic restriction sites and microsatellite sequences (CA repeats) were analysed in females possible carriers of the deletion. Application of this approach enabled us the detection of the deletion in 19 females in 9 families and exclusion of the deletion in 41 females in 23 families. The results of DNA analysis in the remaining 8 families were not informative.

Child↗
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[Carrier's detection in families affected by Duchenne/Becker muscular dystrophy in which DNA from affected individuals is not available].

Carrier/noncarrier status of the mutated dystrophin gene was established in 9 females from four families with Duchenne/Becker muscular dystrophy, in which samples of DNA from the affected members were not available. Analysis of extra- and intragenic polymorphic segments of the dystrophin gene enabled identification of two female carriers and exclusion of carriership in four females. In three cases the results were not informative because of recombination in the analysed segment of the gene.

Alleles↗
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[Juvenile form of Huntington's disease--diagnostic problems].

Variability of clinical manifestation is an important feature of Huntington's disease (HD). It is due to the high instability of CAG sequences within a coding region of IT15 gene. We present five pedigrees in which apart from the adult form of HD the juvenile form of the disease affected some of the patients--as a result of genetic anticipation. Molecular analysis confirmed the well known fact that anticipation, which manifests itself by earlier onset of the disease in the subsequent generations, is strongly correlated with the degree of amplification of (CAG)n repeats in IT15 gene. An interesting feature of the presented data is the fact, that expansion of CAG repeats occurred not only at the paternal but also at the maternal transmission of the mutation. Some children in the presented HD pedigrees presented other neurological disturbances which could be suspected of HD; a molecular analysis revealing normal number of CAG repeats, enabled us to avoid misdiagnosis. The presented data provide evidence that clinical diagnosis of HD, particularly in cases with not very characteristic clinical picture--is not possible without DNA analysis--even in the families undoubtfully affected with the disease.

Adolescent↗
PubMedDate not supplied

[Germline mosaicism in a family with Duchenne muscular dystrophy].

In families with Duchenne/Becker muscular dystrophy, DNA analysis allows direct detection of the sex-linked dystrophy gene mutation. The detection of two alleles (heterozygous) in the region of a deletion in an affected son, excludes the mother having the same deletion. However, it is known that in isolated cases of this disease there is a risk of mosaicism, resulting in genetically different cell lines in the same or different tissues. Because of this consideration, in a subsequent pregnancy, prenatal diagnosis was performed on the mother, who was previously excluded from carrying the deletion based on DNA analysis of blood leukocytes. The examination showed the sex of the foetus to be male, and notably, a deletion identical to that in the ill boy was detected. This indicates that the patient has a germ cell deletion (germline mosaicism).

Adult↗
PubMedDate not supplied

[Tumor necrosis factor alpha (TNF-alpha) in patients with ischemic stroke].

Tumour necrosis factor alpha (TNF-alpha) is a proinflammatory cytokine. Stroke induces a rapid increase in TNF-alpha levels within and around the focus of damaged brain. The aim of our study was to evaluate, whether patients with stroke differ from control patients in the concentrations of TNF-alpha in cerebrospinal fluid and serum. We studied TNF-alpha levels in cerebrospinal fluid and serum in 30 patients with stroke within 24 h after onset of neurological signs and in 15 patients of control group with the diagnosis of tension headache and neurasthenia. In patients with stroke the levels of TNF-alpha in the cerebrospinal fluid and serum were significantly higher in comparison with control group. The results of our study may suggest the overproduction of TNF-alpha during first twenty-four hours of stroke.

Aged↗
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[Clinical picture of spinocerebellar ataxia type I (SCA1)].

Spinocerebellar ataxia is a group of diseases with autosomal dominant inheritance heterogenous both clinically and genetically. So called dynamic mutations underlie most these nosological units. The clinical patterns of various SCA types have not yet been defined completely. The purpose of the present report was description of the typical symptoms and signs of type 1 SCA. Seventeen patients from 13 families (M-2, F-15) were studied clinically in detail. The diagnosis was confirmed by DNA analysis. The assessment included neurological status, cognitive functions, the results of EEG, EMG, SEP, VEP, BAER and MRI examinations. The pedigrees indicated autosomal dominant inheritance pattern. The mean age at onset was 35.5 +/- 6.8 years (range 23-45 years) and it suggested negative correlation with the number of CAG repetitions. Cerebellar syndrome limb and truncal, ataxia and dysarthria was present in all cases. Six patients had nystagmus, 3 had slow saccades, 2 had gaze limitation upward, and lateral and 6 had dysphagia. Signs of pyramidal system involvement were found in 10 cases, one had athetotic movements, one had orthostatic hypotension. Two patients had dementia features, 9 had some decline of intellectual functions, mainly with difficulties of memorization, learning and concentration. In 16 cases MRI demonstrated vermis atrophy and atrophy of cerebellar hemispheres, 14 had fourth ventricle dilatation, 8 had flattening of pons base, 8 had narrowing of cervical spinal cord, 8 had dilated CSF spaces over frontal lobes and in 6 cases lateral ventricles were dilated. Electrophysiological peripheral nervous system investigations showed in 16 cases long-standing damage to the motor and sensory peripheral neurons at the level of nerve trunks, more pronounced in sensory nerves. In 13 cases peripheral neuron damage was subclinical. SEP showed in all patients disturbed function of ascending sensory pathways at peripheral and spinocortical levels.

Adult↗