Biomedical subjects

A Szymańska

Publications and source records attributed to A Szymańska.

12 recordsLinked to original sources

PubMed2004

CHEK2 is a multiorgan cancer susceptibility gene.

A single founder allele of the CHEK2 gene has been associated with predisposition to breast and prostate cancer in North America and Europe. The CHEK2 protein participates in the DNA damage response in many cell types and is therefore a good candidate for a multisite cancer susceptibility gene. Three founder alleles are present in Poland. Two of these result in a truncated CHEK2 protein, and the other is a missense substitution of an isoleucine for a threonine. We ascertained the prevalence of each of these alleles in 4,008 cancer cases and 4,000 controls, all from Poland. The majority of the common cancer sites were represented. Positive associations with protein-truncating alleles were seen for cancers of the thyroid (odds ratio [OR] 4.9; P=.0006), breast (OR 2.2; P=.02), and prostate (OR 2.2; P=.04). The missense variant I157T was associated with an increased risk of breast cancer (OR 1.4; P=.02), colon cancer (OR 2.0; P=.001), kidney cancer (OR 2.1; P=.0006), prostate cancer (OR 1.7; P=.002), and thyroid cancer (OR 1.9; P=.04). The range of cancers associated with mutations of the CHEK2 gene may be much greater than previously thought.

Case-Control Studies↗

PubMed2001

Efficient synthesis of pyrenylalanine.

An efficient synthesis of L-3-(1'-pyrenyl)alanine (Pya), a highly fluorescent amino acid, is described. The amino acid was obtained by the classical asymmetric hydrogenation of chiral 1-acetyl-3-pyrenemethylidene-6-methyl-piperazine-2,5-dione. In the proposed improved procedure mild conditions of the synthesis were applied and the final product--N-tertbutoxycarbonyl-pyrenylalanine--was obtained in good yield. Pyrenylalanine, due to its interesting photophysical properties, can be applied as a fluorescent probe in numerous biochemical and conformational studies.

Alanine↗

PubMed2001

[Epistaxis: causes and management].

Evaluation of 265 patients treated in hospital due to nasal bleeding revealed that almost half of them suffered from hypertension and in about 30% of cases it was impossible to establish the cause of epistaxis. The most frequent way to stop the bleeding was anterior nasal packing and in case of failure posterior nasal packing together with anterior one. Posterior nasal packing with Foley's catheter is relatively simple and effective procedure. Introduction of superselective embolization of maxillary artery and dermoplasty in Rendu-Osler disease was very helpful.

Adolescent↗

PubMed2000

[Pseudohypoparathyroidism].

The article presents data concerning pseudohypoparathyroidism (PH TP). It is an unusual disease, which is characterized by the resistance of bones and kidney to PTH, followed by hypocalcaemia, hyperphospha-taemia, glandulary hypertrophy and hypersecretion of PTH. Patients with PTHT clinically manifest tetany seizures, soft tissue calcifications and many congenital malformations. The disease has a genetic etiology, it is connected with chromosome X and more often found in women. Clinical symptoms may be different and depend on genetic defect or its selectivity with reference to the tissues. At present we can distinguish three types of PHPT and pseudo-pseudo-HPT. The disease usually appears in the infancy. Early diagnosis and vitamin D3 or calcium treatment seem to be the most important for patient's condition. Too late treatment threatens with brain calcification followed by neurological defects and mental retardation. The long-lasting effect of PTH in bones can lead to their destruction, if bone receptors are completely sensitive.

Calcium↗

PubMed2000

[Preliminary assessment of occupational exposure to Glutaraldehyde in selected endoscopic workplaces].

The effect of occupational exposure to glutaric aldehyde in 17 endoscopic laboratories of the Wrocław region was assessed. The level of glutaraldehyde concentration was measured, and the survey was carried out in a group of 34 laboratory employees. In 11 laboratories MAC and STEL values were exceeded. Undesirable effects following the contact with glutaric aldehyde were noted in 28 subjects (82%). The skin, mucous membrane and respiratory system irritations predominated among the symptoms observed. The data show that glutaric aldehyde may induce irritation or exert an allergic effects in medical personnel.

Disinfectants↗

PubMed2000