Search PubMed⌕ Search

Biomedical subjects

A Kowalska

Publications and source records attributed to A Kowalska.

50 records · Page 3Linked to original sources
PubMedDate not supplied

De novo mutation within the intron-exon junction in the PiZ allele of the alpha-1-antitrypsin gene.

A proband homozygous for the PiZ allele of the alpha-1-antitrypsin gene was found to be a heterozygous carrier of the additional nucleotide substitution (C-T) within the intron IV-exon V junction (position 9955 in intron IV, 3 bp upstream of its 3'-splice site). This mutation was not found in DNA from either the PiZ heterozygous parents or the PiZ homozygous brother of proband.

Alleles↗
PubMedDate not supplied

Lack of association between an intronic polymorphism in the presenilin-1 gene and sporadic late-onset Alzheimer disease in Polish patients.

The apolipoprotein E (APOE) gene has in many studies been identified as a susceptibility factor in Alzheimer's disease (AD). The APOE association is rather strong, but other not yet identified genetic factors are assumed to be involved in the pathogenesis of AD. Recently an association between an intronic polymorphism in presenilin-1 (PS-1) gene and late-onset AD was claimed. In order to confirm this observation we studied a sample of Polish patients with sporadic AD. However, our results did not confirm the existence of an association between the intronic polymorphism in the PS-1 gene and late-onset AD.

Age of Onset↗
PubMedDate not supplied

Genetic analysis in patients with familial and sporadic frontotemporal dementia: two tau mutations in only familial cases and no association with apolipoprotein epsilon4.

We screened for tau gene mutations among 24 Japanese (6 familial and 18 sporadic cases) and 4 Polish patients with frontotemporal dementia (FTD) using PCR-SSCP analysis followed by DNA sequencing. We identified 2 missense mutations in exon 10: N279K and P301L in 2 Japanese patients with familial FTD. Additionally 3 DNA polymorphisms: 2 known (3' exon 3 + 9, A --> G and exon 7, codon 176, G --> A) and 1 new (exon 8, codon 185, T --> C) were identified in 1 Polish patient. Tau mutations were not found in subjects with a negative family history suggesting that tau mutations do not account for most sporadic cases of FTD. We also found no association of apolipoprotein E4 allele with FTD.

Aged↗
PubMedDate not supplied

Alpha-1-antitrypsin subtypes in Polish newborns.

Alpha-1-antitrypsin phenotypes of umbilical cord serum from 741 Polish newborns were studied by isoelectric focusing. The frequencies of the PI alleles were: PI*M1 = 0.7199, PI*M2 = 0.1613, PI*M3 = 0.0965, PI*S = 0.0094, PI*Z = 0.0067, and PI*Var(F,I,L) = 0.0060. The data obtained for Poland were compared to those for other European populations.

Fetal Blood↗
PubMedDate not supplied

[Mutation of presenilin ++ genes and their role in pathogenesis of Alzheimer's disease].

A new family of presenilin genes involved in the pathogenesis of early-onset autosomal dominant Alzheimer's disease (AD) has been identified recently. Mutations in presenilin-1 and presenilin-2 genes have a full penetration and lead to AD. The presenilins are transmembrane proteins localized mainly within endoplasmatic reticulum and Golgi systems. Their biological function remains unknown. It has been suggested that the presenilins may be important for intracellular processes of protein trafficking and processing. Presenilin mutations play a direct role in the beta-amyloid precursor protein metabolism and cause increased production of amyloidogenic A beta 42(43) peptide.

Adult↗
PubMedDate not supplied

[Gonadal disorder as a result of adverse reaction to antineoplastic drugs--diagnosis, symptoms, prevention and treatment].

The past three decades have shown the increasing success of chemotherapy as the treatment of malignancies. This therapeutic success has focused attention on the associated gonadal toxicity. Cytotoxic agents may induce infertility and endocrine disfunction. Data for analysis were provided by studies on gonadal function after chemotherapy for: Hodgkin's disease, acute lymphocytic leukemia, non-Hodgkin's lymphoma, breast cancer; renal disease, bone-marrow transplantation. The likelihood of developing chemotherapy-induced damage depended on the chemotherapeutic regimen and prescribed dose, illness, sex and degree of gonadal activity at the time of treatment. Despite of the high frequency of chemotherapy-induced gonadal damage its prevention has received a little attention. LH-RHA and oral contraceptive therapy and testosterone have been tested to a limited extent of gonadal toxicity. Usually in male endocrine disfunction of testis does not need to be treated because it is moderate and does not cause any clinical symptoms. In female hormonal substitution seems to be necessary to decrease unpleasant feelings connected with menopause induced by chemotherapy. Further investigations should considered use of new cytotoxic agents without gonadal toxicity or use of new drugs which can better protect gonadal function.

Antineoplastic Combined Chemotherapy Protocols↗
PubMedDate not supplied

[Polymorphism locus Pi (alpha1-antitrypsin) of residents in the Poznan province].

Locus Pi (Pi-protease inhibitor) polymorphism in the Polish population was determined with isoelectrofocusing human blood proteins in super-thin agarose gel. There were 13 phenotypes of alpha 1-antitrypsin in the tested 631 sera collected from blood donors and inhabitants of both Poznań city and Poznań province. An incidence of locus Pi alleles in the Polish population was determined: PiM1 = 0.7464; PiM2 = 0.1656; PiM3 = 0.0570; PiS = 0.0142; PiZ = 0.015; PiVar = 0.0016. Out of rare Pi variants PiI = 0.0008 and PiR = 0.0008 were identified. The obtained results were compared with those for the European populations.

Adolescent↗
PubMedDate not supplied

[Radical removal of a totally thrombosed vein of Galen aneurysm preoperatively diagnosed as a pineal neoplasm].

A case of an eight-year-old with signs of a pineal region tumor who underwent radical removal of a totally thrombosed vein of Galen aneurysm through the infratentorial supracerebellar approach. Pathophysiology of vein of Galen malformations including variety of clinical course, angiographic appearance and prognosis was described. Predisposition to spontaneous thrombosis in that type of malformations indicates necessity of taking into account such cases in the differential diagnosis of pineal region tumors.

Brain↗
PubMedDate not supplied

[Results of surgical treatment of retrobulbar tumors through osteoplastic supraorbital osteotomy].

Osteoplastic supraorbital orbitotomy in operations of retrobulbar tumours minimizes the necessity of retraction of frontal lobe by change of the direction of the surgical approach. The method allows also reconstruction of the orbital roof preventing postoperative pulsating exophthalmos. The results were supported by comparison of the late control CT scans performed in patients operated by the classical transcranial approach with the examinations performed in patients operated on by the described method.

Adolescent↗