Favorable four-yr outcome after renal transplantation in a patient with complement factor H antibody and CFHR1/CFHR3 gene mutation-associated HUS.

Unlabelled: aHUS is a clinical challenge for successful renal transplantation.

Case Report: A 14-yr-old girl lost her kidneys at the age of 7, due to CFH antibodies and CFH-related protein (CFHR1/CFHR3) homozygous deletion-associated aHUS. CFH, CFI, and MCP gene mutations were excluded.

Variants of SCARB1 and VDR Involved in Complex Genetic Interactions May Be Implicated in the Genetic Susceptibility to Clear Cell Renal Cell Carcinoma.

The current data are still inconclusive in terms of a genetic component involved in the susceptibility to renal cell carcinoma. Our aim was to evaluate 40 selected candidate polymorphisms for potential association with clear cell renal cell carcinoma (ccRCC) based on independent group of 167 patients and 200 healthy controls. The obtained data were searched for independent effects of particular polymorphisms as well as haplotypes and genetic interactions.

Should active surveillance in prostate cancer patients be based on a single histological assessment?

Introduction: Active surveillance (AS) is always associated with a degree of uncertainty, whether or not prostate biopsy (TRUSBx) results indeed can be relied on for evaluation of cancer stage and histological grade, as the most commonly observed limitations of TRUSBx are undergrading, understaging and underestimating true prostate cancer (PCa) volume. We evaluated prostate cancer characteristics in men who could have been offered active surveillance based on clinical features and TRUSBx results, and compared them with the same patient's histology results following their radical prostatectomy (RP). Moreover, we assessed the level of consistency in reporting TRUSBx and RP specimens by the same pathologist on two separate occasions, as well as by another independent pathologist.

Cadmium in urothelial carcinoma of the bladder.

The aim of this study was to examine the relationship between cadmium (Cd) and bladder cancer (urothelial carcinoma of the bladder). Cadmium concentrations in two 36-sample series of bladder cancer tissue and blood, from patients with the neoplasm, were matched with those of the control group. The amount of heavy metal in every tissue sample was determined using atomic absorption spectrometry.

Increased risk of developing cutaneous malignant melanoma is associated with variation in pigmentation genes and VDR, and may involve epistatic effects.

Cutaneous malignant melanoma (CMM) is a malicious human skin cancer that primarily affects individuals with light pigmentation and heavy sun exposure, but also has a known familial association. Multiple genes and polymorphisms have been reported as low-penetrance susceptibility loci for CMM. Here, we examined 33 candidate polymorphisms located in 11 pigmentation genes and the vitamin D receptor gene (VDR) in a population of 130 cutaneous melanoma patients and 707 healthy controls.

Polish Lymphoma Research Group Experience With Bexarotene in the Treatment of Cutaneous T-Cell Lymphoma.

Bexarotene, a synthetic retinoid licensed for the treatment of refractory cutaneous T-cell lymphoma (CTCL), has been used clinically in Poland since 2007 in 21 patients. The objective of our retrospective, multicenter study was to evaluate our experience with bexarotene therapy, including efficacy, safety, and survival outcomes. We retrospectively identified 21 adult patients who were treated with bexarotene between the years 2007 and 2012.

The common occurrence of epistasis in the determination of human pigmentation and its impact on DNA-based pigmentation phenotype prediction.

The role of epistatic effects in the determination of complex traits is often underlined but its significance in the prediction of pigmentation phenotypes has not been evaluated so far. The prediction of pigmentation from genetic data can be useful in forensic science to describe the physical appearance of an unknown offender, victim, or missing person who cannot be identified via conventional DNA profiling. Available forensic DNA prediction systems enable the reliable prediction of several eye and hair colour categories.

Enterovesical fistulae: aetiology, imaging, and management.

Background and Study Objectives. Enterovesical fistula (EVF) is a devastating complication of a variety of inflammatory and neoplastic diseases. Radiological imaging plays a vital role in the diagnosis of EVF and is indispensable to gastroenterologists and surgeons for choosing the correct therapeutic option.

Potential association of single nucleotide polymorphisms in pigmentation genes with the development of basal cell carcinoma.

The risk of developing skin cancers is dependent on a combination of environmental factors and personal genetic predispositions. Basal cell carcinoma (BCC) has been associated with single nucleotide polymorphisms in several pigmentation genes; however, there is still controversy concerning the mechanism by which these variants may increase the risk of BCC. The pathway may lead to pigmentation alone, but evidence for their independent influence is growing.

Progressive bradycardia with increasing doses of dobutamine leading to stress echo interruption.

Dobutamine stress testing is an important non-invasive method for evaluating patients with known or suspected coronary artery disease who are unable to adequately exercise. We present a case of a paradoxical, progressive bradycardia occurring with increasing doses of dobutamine that resulted in stress test interruption.

Role of IL-6 and neopterin in the pathogenesis of herpetic encephalitis.

Herpetic encephalitis (HSE) is one of the most severe infection of the central nervous system (CNS), connected with high mortality rate, even when appropriate therapy has been introduced. Better understanding of pathomechanisms responsible for neuronal injury during the course of the disease can be useful in the assessment of the risk of the occurrence of severe complications, as well as in potential introduction of additional therapeutic methods. The purpose of this study is to assess the correlation between concentration of neopterin and IL-6 in the CSF and serum, and the course of HSE.

Graves' ophthalmopathy in patients treated with radioiodine 131-I.

Background: Radioiodine treatment of hyperthyroidism in Graves' disease patients may cause or aggravate the course of ophthalmopathy (GO). We evaluated the activity and severity of ophthalmopathy in patients who acquired GO following radioiodine therapy.

Material And Methods: Between 2003 and 2005, 763 Graves' disease patients (50.

Structure-cardiovascular activity relationships in a group of new 8-alkylamino-1,3-dimethyl-7-(2-hydroxy-3-aminopropyl)-3,7-dihydro-1H-purine-2,6-diones.

On the basis of our earlier studies in a group of 7,8-disubstituted derivatives of 1,3-dimetyl-3,7-dihydropurine-2,6-dione, a series of new 8-alkylamino-1,3-dimethyl-7-(2-hydroxy-3-aminopropyl)-3,7-dihydropurine-2,6-diones (8-15) were synthesized and tested for their electrocardiographic, antiarrhythmic and hypotensive activity and for α(1)- and α(2)-adrenoreceptor affinities. Among the new derivatives, compounds with the 7-[2-hydroxy-3-(4-phenylpiperazine)-propyl] substituent (9-11) displayed prophylactic antiarrhythmic activity in epinephrine-induced arrhythmia. Analogue 10 with the 8-(2-morpholin-4-yl)-ethylamino group was the most active (ED(50) = 3.

Atypical subtrochanteric fractures after long-term bisphosphonate therapy.

There have been many reports published in recent years on atypical subtrochanteric fractures after long-term bisphosphonates therapy. In a description of a few series of cases, fractures of typical clinical course and radiological image have been documented. These fractures are estimated as very rare (2.

Octreotide lar affects the volume of pituitary adenoma in acromegalic patients.

Introduction: We studied changes of pituitary adenoma volumes in patients treated with octreotide LAR (SSLAR) over 12 months prior to surgery.

Materials And Methods: 26 patients (22 female and 4 male, mean age 57.5±15.

Association of the SLC45A2 gene with physiological human hair colour variation.

Pigmentation is a complex physical trait with multiple genes involved. Several genes have already been associated with natural differences in human pigmentation. The SLC45A2 gene encoding a transporter protein involved in melanin synthesis is considered to be one of the most important genes affecting human pigmentation.

The contribution of melanocortin 1 receptor gene polymorphisms and the agouti signalling protein gene 8818A>G polymorphism to cutaneous melanoma and basal cell carcinoma in a Polish population.

In this study, we assessed the role of melanocortin-1 receptor (MC1R) and agouti signalling protein (ASIP) polymorphisms in cutaneous melanoma and basal cell carcinoma (BCC) development in a Polish population. We enrolled 108 patients with skin malignant melanoma (MM) and 102 patients with BCC. The control group consisted of 93 non-red haired patients, without history of skin cancers and 30 healthy individuals with red hair colour (RHC) phenotype.

Characteristics and surgery of aneurysms of the proximal (A1) segment of the anterior cerebral artery.

Aim: Proximal anterior cerebral artery (A1) aneurysms are considered to be rare or even unique. Proper surgical planning around A1 segment is particularly essential in order to avoid injury of tiny perforating arteries.

Methods: In 17 patients with angiographically or intraoperatively diagnosed A1 aneurysms, representing 0.

Preparation the family to care of the patient with Alzhaimer's disease.

Purpose: Evaluation of the level of the family readiness to look after a person suffering from the Alzheimer's disease.

Material And Methods: In the research an authorized questionnaire was used, which comprised knowledge concerning the disease, coping with the situation, looking after a patient and an open test.

Results: It was shown that the level of knowledge about Alzheimer's disease corresponds to the level of education (p < 0.

Interaction of cells with L-lactide/glycolide copolymers synthesized with the use of tin or zirconium compounds.

Comparative studies have been carried out on the viability of cells culture and production of collagen on lactide/glycolide copolymers synthesized using zirconium or tin initiators. Cell response of various cell types: fibroblast-like cells, osteoblast-like cells, monocyte/macrophage-like cells has been examined. Cell response depends on the kind of cells and the initiator used during the synthesis of the polymer.

Anticonvulsant properties of N-(4-methylpiperazin-1-yl)- and N-[3-(4-methyl-piperazin-1-yl)propyl] derivatives of 3-aryl- and 3-spirocycloalkyl-pyrrolidine-2,5-dione.

Two series of N-(4-methylpiperazin-1-yl)- and N-[3-(4-methylpiperazin-1-yl)-propyl]-3-aryl- and 3-spirocycloalkyl-pyrrolidine-2,5-dione derivatives were synthesized and tested for anticonvulsant activity in the maximum electroshock (MES) seizure and pentetrazole (sc PTZ) seizure threshold tests. Compounds with an aromatic ring at position-3 of pyrrolidine-2,5-dione exhibited anticonvulsant activity in the MES test. For that series of compounds, ED50 values were determined.

Synthesis and evaluation of in vivo activity of diphenylhydantoin basic derivatives.

During the search for antiarrhythmic agents among amide derivatives of phenytoin, compound 7 {3-ethyl-1-[2-hydroxy-3-(4-phenyl-piperazin-1-yl)-propyl]-2,4-dioxo-5,5-diphenyl-imidazolidine} was selected as it showed antiarrhythmic as well as antihypertensive activity. Treating this compound as a lead, new derivatives 8-19 were synthesised, differing in piperazine phenyl ring substitution (2-, 3-, 4-Cl, 2-CH3O) as well as in hydantoin N3 alkyl chain (ethyl, ethyl acetate or ethyl 2-propionate). The obtained compounds in form of hydrochlorides 7a-19a were examined for prophylactic antiarrhythmic and antihypertensive properties.

New arylpiperazine 5-HT(1A) receptor ligands containing the pyrimido[2,1-f]purine fragment: synthesis, in vitro, and in vivo pharmacological evaluation.

New 1H,3H-pyrimido[2,1-f]purine-2,4-dione derivatives of arylpiperazine (11-22) were prepared and evaluated in vitro for their affinity for 5-HT(1A), 5-HT(2A), alpha(1), and D(2) receptors. The tested compounds showed high affinity for 5-HT(1A) and alpha(1) receptors (K(i) = 1.1-87 and 10-62 nM, respectively) and moderate to low affinity for 5-HT(2A) (K(i) = 56-881 nM) and D(2) receptors (K(i) = 94-1245 nM).

Validation of a method for simultaneous determination of menthol and methyl salicylate in pharmaceuticals by capillary gas chromatography with cool on-column injection.

The conditions for the identification and quantitative determination of menthol and methyl salicylate in ointment Balsamum Mentholi Compositum on a hydrocarbon-ester base (vaseline-lanolin), have been established by using capillary gas chromatography with cool on-column injection and flame ionization detection (FID). The good separation of menthol (tR = 7.2 min), methyl salicylate (tR = 8.

Synthesis and anticonvulsant properties of new 1-phenyl and 1-phenylamino-3-phenylpyrrolidine-2,5-dione derivatives.

A series of N-aryl and N-aminoaryl 3-phenyl pyrrolidine-2,5-diones were synthesized and tested for anticonvulsant activity in the maximum electroshock seizure (MES) and pentetrazol seizure threshold (sc Met) tests. Structures of the novel compounds were confirmed by elemental and spectral analyses.