Tumour-induced osteomalacia (TIO).

Not required for Clinical Vignettes.

The coin that is most current is flattery? Stability and discontinuity of false praise-telling from 5 to 7 years of life.

Preschool children engage in flattery behaviors, including expressing opinions toward other people or objects that-although favorable-are not truly held. Research shows that in the following years, the number and complexity of motives underlying such insincere behavior increase. The current study focused on children's overt behavior, examining two aspects of the development of false praise-telling: individual stability and group-level discontinuity. Using an art-rating task, a total of 164 children aged 5 to 7 years were tested at three points in time (T1/2/3): MT1 age = 5.66 years, SD = 0.1; MT2 age = 6.65 years, SD = 0.16; MT3 age = 7.61 years, SD = 0.14. The results show that, having become capable of giving false praise in politeness settings at 5.5 years of age, children continue to flatter others in this way at later ages, indicating that false praise-telling is an individually stable characteristic. In addition, a statistically significant increase in the proportion of false praise-telling to non-lying behavior in children over the 2-year study period was observed. This indicates that the discontinuity, namely the growth in children's flattery behavior, occurs from 5 to 7 years of age. The findings are discussed with respect to the diverse factors that might underlie and affect children's tendency to praise others falsely in politeness settings.

mRNA Profiling for Vaginal Fluid and Menstrual Blood Identification.

Recently mRNA profiling has been widely proposed as a universal tool for biological fluids identification. Here, we describe a test for vaginal fluid identification that combines detection of five markers: vaginal mRNAs and Lactobacilli in end-point PCR reaction. The test detects the following transcripts: HBD1 (Human beta-defensin 1), MUC4 (Mucin 4), MMP11 (Matrix metalloproteinase 11), housekeeping gene G6PDH (glucose 6-phosphate dehydrogenase), and the 16S-23S rRNA intergenic spacer regions of L. crispatus and L. gasseri/L. johnsonii. Simultaneous analysis of five vaginal markers and a housekeeping gene ensures high specificity and reliability in the detection of vaginal material, which could not be obtained using detection of a single marker.

mRNA heptaplex protocol for distinguishing between menstrual and peripheral blood.

The identification of menstrual blood is an important issue in forensic biology, but currently, there are no confirmatory methods for its detection. Here, we demonstrate a highly reliable simple heptaplex method that allows for the discrimination between menstrual and peripheral blood. The test has been used successfully in criminal casework, in which the origin of blood on a rape victim's underwear and trousers was questioned as being menstrual or traumatic peripheral blood. To solve this problem, transcripts of the following genes were used: mucin 4 (MUC4), human ß-defensin 1 (HBD1), two matrix metalloproteinases (MMP7, MMP11), δ-aminolevulinate synthase 2 (ALAS2), hemoglobin alpha (HBA) and glucose 6-phosphate dehydrogenase (G6PDH). The sensitivity of the test is 0.3ng of RNA. The possibility of the detection and differentiation of menstrual and peripheral blood in mixtures that contain other body fluids was investigated. Reliable detection is possible for menstrual blood stains that are up to 1-2 years old if stored at room temperature. This easy approach, thanks to the amplification of 4 vaginal and 2 blood markers, minimizes the risk of false negative results.

Cytotoxicity studies of novel combretastatin and pterostilbene derivatives.

We synthesised seven 2-aminestilbenes with methoxy substitents in reactions of dinitrostilbenes with sodium azide. In order to study the positioning of the nitro groups, the optimum structure of obtained stilbenes using the DFT B3LYP/6-311++G(2d,p) method was calculated. Very interesting aspect of this regioselectivity reaction is the fact that in all substrates and synthetized compounds the nitro groups in position 2 were not coplanar whereas the para-nitro groups were coplanar with respect to the benzene ring. Due to unique features of stilbene derivatives, such as antitumor agents, we undertook the studies on the biological properties of new stilbene derivatives. Using five cancer cell lines, we investigated the effects of 2-aminestilbenes with methoxy substitents on cell growth.

Different whole-genome amplification methods as a preamplification tool in Y-chromosome Loci analysis.

Degraded and low template DNA is often analyzed in forensic genetics laboratories. Reliable analysis of degraded and low template DNA is of great importance, because its results impact the quality and reliability of expert testimonies. Recently, a number of whole-genome amplification (WGA) methods have been proposed as preamplification tools improving quantity and quality of DNA. We chose, investigated, and compared 7 WGA methods to evaluate their ability to "recover" degraded and nondegraded DNA. These methods include degenerate oligonucleotide primed polymerase chain reaction, primer extension preamplification (PEP) polymerase chain reaction, GenomePlex WGA (Sigma), multiple displacement amplification, GenomiPhi Amplification Kit (Amersham Biosciences), restriction and circularization aided rolling circle amplification, and blunt-end ligation-mediated WGA. Recently, we have described the comparison of these methods' efficiency and reliability using SGMPlus kit. However, Y-chromosome profiling is also often used in analysis of both nondegraded and degraded DNA. This includes criminal cases and investigation of kinship in male linage. Here we demonstrate the impact of WGA methods on Y-chromosome loci (Yfiler) reactivation.The best results for nondegraded DNA were obtained with GenomiPhi kit and PEP method. In the case of degraded DNA (200 base pairs), the most complete profiles were obtained with GenomePlex kit and PEP method. None of the analyzed methods allowed full reactivation of degraded (200 base pairs) DNA in terms of Y-chromosome loci profiling.

mRNA profiling for vaginal fluid and menstrual blood identification.

The detection and identification of human biological fluids, including vaginal secretions and menstrual blood, are highly important in forensic biology. Previous studies have proposed a few mRNA and bacterial markers for vaginal fluid detection, but they have not proven to be specific and reliable. The aim of this project was to develop, validate and evaluate a reliable, specific test for vaginal fluid identification that would combine detection of vaginal mRNAs and Lactobacilli. We have developed a hexaplex that detects HBD1 (human beta-defensin 1), MUC4 (mucin 4), menstrual blood marker MMP11 (matrix metalloproteinase 11), housekeeping gene G6PDH (glucose 6-phosphate dehydrogenase) and the 16S-23S rRNA intergenic spacer region of Lactobacillus crispatus and Lactobacillus gasseri/Lactobacillus johnsonii. We analysed the specificity of the markers and variations among women, as well as the sensitivity of the test and its ability to detect vaginal fluid in mixtures with semen and blood. This approach allows for the detection of vaginal fluid in stains that were up to 2 years old, if stored at room temperature and up to 18 years old if stored frozen. Through simultaneous analysis of 5 vaginal markers, the proposed hexaplex ensures high specificity and reliability in the detection of vaginal material.

Whole genome amplification of degraded and nondegraded DNA for forensic purposes.

Degraded DNA is often analyzed in forensic genetics laboratories. Reliable analysis of degraded DNA is of great importance, since its results impact the quality and reliability of expert testimonies. Recently, a number of whole genome amplification (WGA) methods have been proposed as preamplification tools. They work on the premise of being able to generate microgram quantities of DNA from as little as the quantity of DNA from a single cell. We chose, investigated, and compared seven WGA methods to evaluate their ability to "recover" degraded and nondegraded DNA: degenerate oligonucleotide-primed PCR, primer extension preamplification PCR, GenomePlex™ WGA commercial kit (Sigma), multiple displacement amplification, GenomiPhi™ Amplification kit (Amersham Biosciences), restriction and circularization-aided rolling circle amplification, and blunt-end ligation-mediated WGA. The efficiency and reliability of those methods were analyzed and compared using SGMPlus, YFiler, mtDNA, and Y-chromosome SNP typing. The best results for nondegraded DNA were obtained with GenomiPhi and PEP methods. In the case of degraded DNA (200 bp), the best results were obtained with GenomePlex which successfully amplified also severely degraded DNA (100 bp), thus enabling correct typing of mtDNA and Y-SNP loci. WGA may be very useful in analysis of low copy number DNA or degraded DNA in forensic genetics, especially after introduction of some improvements (sample pooling and replicate DNA typing).

Parathyroid adenoma diagnosed on the basis of a giant cell tumor of parieto-occipital region and multifocal bone injuries.

Brown tumors are rare skeletal manifestations of hyperparathyroidism (HPT) that may mimic cancer metastases. Histopathologically, they are difficult to differentiate from other giant cell lesions. A case is presented of 41-year-old woman with giant cell tumor in parieto-occipital region with injury of external bone lamina, growing into the skull cavity. The mass was suspected of being neoplastic. Numerous osteolytic lesions in the skull skeleton and multifocal bone injuries were observed, also. Elevation in calcium (5.91 mEq/L) and parathormone (1188 ng/mL) concentrations and hypercalciuria (52 mEq/24 h) suggested the diagnosis of HPT initially manifesting as a brown tumor of the skull. Further exploration confirmed the existence of parathyroid adenoma as a cause of the disease. The key treatment for the condition was surgical excision of the adenoma followed by the normalization of parathyroid function and significant reduction in size of skull tumor and other lesions.

Low bone mineral density in adult patients with coeliac disease.

INTRODUCTION: Calcium and vitamin D malabsorption in coeliac disease (CD) predispose to skeletal demineralisation. The aim of this study was to evaluate the prevalence of bone mineral density (BMD) and calcium deficiencies in adult patients with CD and assess whether a gluten-free diet is sufficiently effective for BMD restoration. MATERIAL AND METHODS: BMD and biochemical parameters of bone and mineral metabolism were measured in 35 adult CD patients receiving (19) or not receiving (16) a gluten-free diet (GFD) and in 36 controls. Then the CD patients were treated with a GFD and calcium (1.0 g/day) plus alfacalcidol (0.25-1 µg/day) for one year. RESULTS: Reduced BMD was diagnosed in 57-77% of the patients. Mean calcaemia, calciuria, and 25(OH) vitamin D were lower, but serum PTH and bone-turnover markers (ALP, osteocalcin, ICTP) were significantly higher in the CD patients than in the controls. In the patients on the diet (GFD(+)), BMD was higher than in the GFD(-) patients, but lower than in the controls. The biochemical parameters were normal in the GFD(+) patients except for diminished calciuria. Mean BMD after one year of treatment significantly increased (p < 0.05), mostly in the lumbar spine (mean: 7.3%), but decreased in five patients who did not strictly adhere to the GFD. CONCLUSIONS: Deficiencies in calcium, vitamin D, and BMD are very common in adult CD patients. Gluten avoidance increased BMD, although the values remained markedly lower in several patients. Because of chronic calcium deficiency despite GFD, calcium and vitamin D supplementation in most adult CD patients is proposed.

Comparison of three methods of DNA extraction from human bones with different degrees of degradation.

There is a necessity for deceased identification as a result of many accidents and sometimes bones are the only accessible source of DNA. So far, a universal method that allows for extraction of DNA from materials at different stages of degradation does not exist. The aims of this study were: the comparison of three methods of DNA extraction from bones with different degree of degradation and an evaluation of the usefulness of these methods in forensic genetics. The efficiency of DNA extraction, the degree of extract contamination by polymerase chain reaction (PCR) inhibitors and the possibility of determining the STR loci profile were especially being compared. Nuclear DNA from bones at different states of degradation was isolated using three methods: classical, organic phenol-chloroform extraction, DNA extraction from crystal aggregates and extraction by total demineralisation. Total demineralisation is the best method for most cases of DNA extraction from bones, although it does not provide pure DNA. DNA extraction from aggregates removes inhibitors much better and is also a good method of choice when identity determination of exhumed remains is necessary. In the case of not buried bones (remains found outside) total demineralisation or phenol-chloroform protocols are more efficient for successful DNA extraction.

[The difficulties in differential diagnosis of primary aldosteronism subtypes in women with strokes at a young age]. / Trudnosci w diagnostyce róznicowej podtypów pierwotnego aldosteronizmu u kobiety z udarami mózgowymi w mlodym wieku.

In patients with primary aldosteronism (PA), it is fundamental to distinguish between subtypes that benefit from different treatment. The authors describe difficulties in differential diagnosis in a case of 46 year old women with PA and two strokes in the past. Based on high plasma and urine aldosterone concentration, low plasma renin activity (PRA), very high aldosterone/PRA ratio and unilateral macroadenoma detected in computed tomography, aldosterone producing adenoma was diagnosed and the patient was performed unilateral adrenalectomy. Despite the surgical treatment the patient still presented with clinical and biochemical PA symptoms. Moreover, histological examination suggested adrenal hyperplasia, and laboratory tests were typical for glucocorticoid-remediable aldosteronism. Unfortunately, we didn't find a chimeric CYP 11beta1/CYP 11beta2 gene. Finally, bilateral adrenal hyperplasia was diagnosed and medical treatment with aldosterone antagonist was initiated.

Plasma cytokines in obese women with polycystic ovary syndrome, before and after metformin treatment.

OBJECTIVES: Most research confirms that metformin therapy has a positive influence on cardiovascular risk factors (CVRF) such as dyslipidemia, insulin resistance and hyperandrogenism in polycystic ovary syndrome (PCOS). The aims of the present study were to establish other CVRF, such as plasma adiponectin, tumor necrosis factor-alpha (TNFalpha), interleukin-6 (IL-6) and C-reactive protein (CRP) levels, in obese premenopausal women with PCOS and to investigate the effect of metformin treatment on these factors. MATERIALS AND METHODS: The study group consisted of 29 PCOS woman with body mass index (BMI) >25 kg/m(2). They were treated over 6 months with 500 mg metformin twice daily. Twenty-nine healthy individuals matched for age and BMI were controls. Adiponectin, TNFalpha, IL-6 and CRP levels were examined in all PCOS (before and after treatment) and control women. RESULTS: In the PCOS group significantly lower plasma adiponectin and TNFalpha levels were observed, whereas there were no differences in plasma IL-6 and CRP levels between PCOS and control groups. Plasma adiponectin increased significantly after metformin treatment, but levels of inflammatory factors did not change.

VisGenome: visualization of single and comparative genome representations.

VisGenome visualizes single and comparative representations for the rat, the mouse and the human chromosomes at different levels of detail. The tool offers smooth zooming and panning which is more flexible than seen in other browsers. It presents information available in Ensembl for single chromosomes, as well as homologies (orthologue predictions including ortholog one2one, apparent ortholog one2one, ortholog many2many) for any two chromosomes from different species. The application can query supporting data from Ensembl by invoking a link in a browser.

[The effect of rosiglitazone on plasma adiponectin and resistin levels in obese PCO woman--preliminary report]. / Wplyw roziglitazonu na stezenie adiponektyny i rezystyny u otylych kobiet z zespolem wielotorbielowatych jajników--doniesienie wstepne.

AIM OF THE STUDY: to determine the effect of rosiglitazone on plasma adiponectin and resistin levels in obese, non-diabetic polycystic ovary (PCO) subjects and relationship between circulating adipocytokines, insulin resistance and lipid profile. MATERIAL AND METHODS: PCOS women were treated 6 months with 4mg rosiglitazone daily (the blood was tested before and 3; 6 months after treatment). Plasma resistin, adiponectin, total-cholesterol, triglycerides, HDL- and LDL-cholesterol levels were examined in 12 obese PCO women (age 18-45) with BMI >30. Twelve healthy, obese individuals with BMI >30 were controls. We measured peripheral insulin resistance using FIRI and Quicki indexes derived from fasting insulin and glucose levels, and insulin area under the curve during an oral glucose challenge. RESULTS: BMI, WHR, % of total fat, FIRI, Quicki and fasting insulin were comparable in both groups. We observed significantly lower adiponectin and resistin plasma levels in PCO woman. Fasting plasma insulin level was similar in both groups and didn't change after treatment. We noticed decrease in insulin area under the curve after 3 and 6 months of rosiglitazon (respectively p = 0.029 and 0.03). There were decreases after treatment in BMI and WHR and beneficial changes in lipid profile--but not significant. Plasma adiponectin level increased after 6 months of treatment (p = 0.03) but plasma resistin level didn't change. We revealed negative correlation between adiponectin, BMI and fasting glucose. CONCLUSION: Our data confirm that in obese, hyperinsulinemic PCO women adiponectin and resistin levels were decreased. After therapy we observed increase in adiponectin level and no change in resistin level.

Simultaneous determination of zirconium and hafnium as ternary complexes with 5-Br-PADAP and fluoride using solid-phase extraction and reversed-phase liquid chromatography.

Solid-phase extraction (SPE) along with reversed-phase liquid chromatography (RP-LC) was used for the simultaneous determination of Zr(IV) and Hf(IV) by means of their ternary chelates with fluoride and 2-(5-bromo-2-pyridylazo)-5-diethylaminophenol (5-Br-PADAP). The conditions of SPE sorption were examined in detail: type of SPE column, volume of the sample, volume of the eluent, concentrations of metal ions, fluoride salt, chromogenic reagent, organic phase, and pH. It was established that the sorption of Zr(IV) and Hf(IV), as their ternary chelates, on SPE Zorbax SPE C18 (EC) cartridge was the most efficient, when the sample containing metal ion (Zr(IV), Hf(IV), both, up to 2 mug), 5-Br-PADAP 1.5x10(-4), NaF 7.5x10(-5) mol l(-1), methanol 40%, pH 4.5+/-1 was applied for the SPE sorption. The chelates were discarded from SPE cartridge using acetonitrile/water (99.75+0.25, v/v) eluent containing 3.8x10(-4) mol l(-1) sodium fluoride and subsequently separated by RP-LC method. The RP-LC separation of both chelates was optimized and Zorbax SB-C18 analytical LC column along with acetonitrile/water (65+35, v/v) eluent containing the 1.5x10(-4) mol l(-1) sodium fluoride was used. The established SPE/LC conditions allow Zr(IV) 0.08-2.0 mug and Hf(IV) 0.04-2.0 mug determination in a sample volume up to 150 ml. The detection limits, 0.03 mug Hf(IV) and 0.05 mug Zr(IV), were obtained. Recoveries, (94+/-2)% for Hf(IV) chelate and (106+/-2)% for Zr(IV) chelate were obtained, when 1 mug of Zr(IV) and Hf(IV) ions were determined by the present SPE/LC method from the sample volume of 100 ml. The established, pre-concentration SPE conditions, along with the LC separation and determination allow the assay of Zr(IV) and Hf(IV) in complicated matrix materials. The present SPE/LC method was applied to the determination of Zr(IV) and Hf(IV) in tap water and reference geological material (rock, NCS DC 73303; certified content: Zr, 27.7x10(-3)% (w/w) and Hf, 6.5x10(-4)% (w/w)).