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An abstract of the article "Increased prevalence of bicuspid aortic valve in Turner syndrome links with karyotype: a crucial importance of detailed cardiovascular screening," by E. Klaskova and colleagues is presented.

The present prospective, randomised, double-blinded clinical study was designed to investigate the commonly used anaesthetic combinations of dexmedetomidine-propofol-isoflurane and medetomidine-propofolisoflurane on intraocular pressure and pupil size in dogs. Forty client-owned healthy dogs with no ocular abnormalities, average body weight of 25.7 ± 13.1 kg (mean ± SD) and aged 3.7 ± 2.7 years, were enrolled. Twenty four males and 16 females were included. Dogs were allocated randomly to receive dexmedetomidine i.v. at 0.005 mg/ kg, dexmedetomidine at 0.01 mg/kg, medetomidine at 0.01 mg/kg or medetomidine at 0.02 mg/kg. Ten minutes later anaesthesia was induced in all dogs with propofol and maintained with isoflurane in oxygen-air. Intraocular pressure, pupil size, heart rate, respiratory frequency and arterial blood pressures (SAP, DAP) were measured prior to (baseline) and at 10 (before propofol), 20, 30, 40, 50 and 60 min after dexmedetomidine or medetomidine administration. Oxygen saturation of haemoglobin (SpO2) and end-tidal CO2 concentration (EtCO2) was monitored following anaesthesia induction. Data were analysed using Anderson-Darling and Bartlett's tests for data distribution and homogeneity of variance confirmation and ANOVA followed by Dunnett's tests for multiple comparisons. Changes were considered significant when P < 0.05. Following drug administration, pupil size, heart rate and respiratory frequency decreased significantly within groups, but did not differ between groups. No significant changes in intraocular pressure, SAP and DAP within and between groups, and SpO2 or EtCO2 between groups, were observed. Comparable doses of dexmedetomidine or medetomidine combined with propofol and isoflurane induced reductions in pupil size, respiratory frequency and heart rate, however, without a significant influence on intraocular pressure or arterial blood pressure. [ABSTRACT FROM AUTHOR]

The short stature homeobox-containing gene ( SHOX ) plays an important role in bone development and growth. We aimed to assess bone geometry and volumetric bone mineral density at the radius in patients with isolated SHOX deficiency and to relate these bone parameters to the severity of disproportion between the upper and the lower body segment. 17 patients with isolated SHOX deficiency (median age 12.3 yrs, range 6.7-37.2, 12 children and 5 adults) were examined by peripheral quantitative CT (pQCT) at the non-dominant forearm. Results were expressed as Z-scores using published reference data. Linear regression analyses were performed to describe associations between pQCT parameters and the severity of disproportion expressed as sitting height to standing subischial leg height ratio. Trabecular volumetric bone mineral density (vBMD) at the distal radius was normal, whereas cortical vBMD was decreased (mean Z-scores 0.34 ± 1.5, n.s., and -2.2 ± 2.2, p < 0.001, respectively). Total bone cross-sectional area was enlarged at the diaphysis (2.1 ± 1.2, p < 0.001), while cortical bone cross-sectional area was normal ( -0.51 ± 1.4, n.s.). Consequently, cortical thickness was decreased ( -1.2 ± 1.3, p < 0.01). The polar strength-strain index as a surrogate of long bone strength was normal (0.40 ± 1.4, n.s.). We found no associations between pQCT parameters and the severity of disproportion. Conclusions: Patients with isolated SHOX deficiency are characterized by decreased cortical vBMD and cortical thickness and enlarged diaphysis. As similar changes have been described in girls with Turner syndrome, these findings suggest that haploinsufficiency of SHOX could cause characteristic skeletal anomalies at the radius. [ABSTRACT FROM AUTHOR]

We analysed data from 155 revisions of identical cementless hip prostheses to determine the influence of patient-, implant- and surgery-related factors on the polyethylene wear rate and size of periprosthetic osteolysis (OL). This was calculated by logistic regression analysis. Factors associated with an increased/decreased wear rate included position of the cup relative to Kohler's line, increase in abduction angle of the cup, traumatic and inflammatory arthritis as a primary diagnosis, and patient height. Severe acetabular bone defects were predicted by an increased wear rate (odds ratio, OR = 5.782 for wear rate above 200 mm(3)/y), and increased height of the patient (OR = 0.905 per each centimetre). Predictors of severe bone defects in the femur were the increased wear rate (OR = 3.479 for wear rate above 200 mm(3)/y) and placement of the cup outside of the true acetabulum (OR = 3.292). Variables related to surgical technique were the most predictive of polyethylene wear rate. [ABSTRACT FROM AUTHOR]

The sulphonated derivatives of porphyrins (e.g. TPPS 4 ) are hydrophilic photosensitizers and have certain advantages like fully known structures and the possibility of synthetic production. The aim of this work was to study in vitro cytotoxicity and to compare the new photosensitizer MgTPPS 4 with TPPS 4 and its other metal-complexes (ZnTPPS 4 , PdTPPS 4 ) on human skin melanom and mouse fibroblast cell lines. A photodynamic treatment was induced by light emitting diodes with three different total doses (1, 5 and 10 J/cm 2 ). For proper analysis and understanding of cell behavior after the administration of sensitizers, a complex battery of in vitro tests including the production of reactive oxygen species, the MTT viability test, a comet assay, a cell cycle and a type of cell death determination were used. We discovered that the most suitable photosensitizer is ZnTPPS 4 because it had the biggest lethal influence on melanoma cells and the lowest lethal influence on fibroblast cells. The second most effective photosensitizer seemed to be MgTPPS 4 . On the basis of our results we can also assume that there is a higher accumulation of photosensitizer in a tumorous cell line. The higher concentration of photosensitizer and light dose resulted in more reactive oxygen species production and found more cells undergoing necrosis. [ABSTRACT FROM AUTHOR]

Respiratory and cardiovascular changes in normocapnic dogs undergoing laparoscopic ovariectomy are described in this report. To-date, changes during a standardised ventilation pattern, irrespective of end-tidal CO2 (EtCO2) levels, have not been reported. This study was undertaken to describe these changes. Forty bitches undergoing laparoscopic ovariectomy were enrolled in a prospective double-blind randomised clinical trial. They were first anaesthetised with medetomidine-butorphanol-propofol and then maintained with isoflurane in oxygen- air. Ventilation pattern was pressure-controlled, volume-limited. After stabilisation, atracurium 0.4 mg/kg (ATR group, n = 20) or saline 0.04 ml/kg (SAL group, n = 20) was administered intravenously. Capnoperitoneum was then established with an intra-abdominal pressure setting of 10 mmHg. Collected data included heart rate (HR), non-invasive blood pressure, EtCO2, oxygen saturation of haemoglobin, and tidal volume and neuromuscular blockade (train-of-four). Data were recorded before administration of atracurium or saline, and at 2, 5, and 10 min thereafter. Subsequently, insufflation of CO2 was commenced. After capnoperitoneum was established, data were recorded at 2, 5 and 10 min. Time of capnoperitoneum induction and duration, time of ovary searching and excision and total time of capnoperitoneum and surgery were also recorded. For statistical analysis, the Shapiro Wilk test, ANOVA with repeated measures and Student's t-test for independent samples were used (P < 0.05). Significant increases in EtCO2 were observed in patients 5 min after atracurium administration and 5 min after capnoperitoneum was established in the ATR group, when compared to the SAL group. No other differences were found. Administration of atracurium in dogs undergoing laparoscopic ovariectomy with a standardised ventilation pattern did not result in clinically important differences in selected cardiovascular and respiratory variables and surgical times in comparison with non-relaxed dogs. Thus, the use of atracurium in laparoscopic ovariectomy does not result in any benefit for patients or surgeons. [ABSTRACT FROM AUTHOR]

Aim of this trial was to assess (1) the accuracy and precision of electrochemistry-based glucometers CONTOURLINK, CALLA, and LINUS and (2) the diabetes control using Ambulatory Glycaemic Profiles (AGP) as markers of therapeutic effectiveness. Glucometers and COBAS INTEGRA 400 Plus analyzer were used by one laboratory professional to estimate P-glucose (PG) in 112 out-patients. There were 112 sets of 12 PG estimations analyzed. In each set, means of 3 capillary PG estimations on 3 respective glucometers and on INTEGRA analyzer were calculated. The statistical program SPSS, v. 15, was applied. The mean INTEGRA PG values ranged from 2.7 to 25.3mmol/L. There were strong correlations between mean PG on INTEGRA versus CONTOURLINK, versus CALLA, and versus LINUS; PG deviations from INTEGRA were mostly within the range ±15%. Wilcoxon Signed Rank Test revealed differences between CONTOURLINK-INTEGRA and LINUS-INTEGRA; CALLA-INTEGRA showed no difference. SD INTEGRA = 0.061mmol/L, SD CONTOURLINK/SD CALLA/SD LINUS were 0.256/0.290/0.286mmol/L. All patients were trained to perform defined 10-point PG profiles to adapt food, exercise, and insulin doses. The PG differences between all tested glucometers and reference values were in borderline of ISO 15197 but worthy of consideration. AGP are helpful markers of diabetes control [ABSTRACT FROM AUTHOR]

Abstract: The aim of the study was to analyze frequency of SHOX gene defects and selected dysmorphic signs in patients of both idiopathic short stature (ISS) and Léri–Weill dyschondrosteosis (LWD), all derived from the Czech population. Overall, 98 subjects were analyzed in the study. Inclusion criteria were the presence of short stature (−2.0 SD), in combination with at least one of the selected dysmorphic signs for the ISS+group; and the presence of Madelung deformity, without positive karyotyping for the LWD+group. Each proband was analyzed by use of P018 MLPA kit, which covers SHOX and its regulatory sequences. Additionally, mutational analysis was done of the coding portions of the SHOX. Both extent and breakpoint localizations in the deletions/duplications found were quite variable. Some PAR1 rearrangements were detected, without obvious phenotypic association. In the ISS+group, MLPA analysis detected four PAR1 deletions associated with a SHOX gene defect, PAR1 duplication with an ambiguous effect, and two SHOX mutations (13.7%). In the LWD+group, MLPA analysis detected nine deletions in PAR1 region, with a deleterious effect on SHOX, first reported case of isolated SHOX enhancer duplication, and SHOX mutation (68.8%). In both ISS+and LWD+groups were positivity associated with a disproportionately short stature; in the ISS+group, in combination with muscular hypertrophy. It seems that small PAR1 rearrangements might be quite frequent in the population. Our study suggests disproportionateness, especially in combination with muscular hypertrophy, as relevant indicators of ISS to be the effect of SHOX defect. [Copyright &y& Elsevier]

Abstract: The aim of the work was early identification of preventable risk factors connected with the consumers usage of products of everyday use, such as cosmetics, toys and children products, and other materials intended for contact with human skin. The risk factor is represented by substances with irritation potential and subsequent possible sensitisation, resulting in negative impact on human physical and psychical health with social and societal consequences. The legislation for cosmetics, chemical substances and other products requires for hazard identification the application of alternative toxicological methods in vitro without the use of animals. For this reason we used a battery of alternative assays in vitro, based on cell cultures. Progressive methods of molecular biology, based on fluorimetry and fluorescence, were employed for identification of early morphological and functional changes on cellular level. Four colorants frequently used in cosmetics (P-WS Caramel, Chlorophyllin, Unicert Red K 7054-J and Unicert Red K 7008-J) were tested on cell line NIH3T3 (mouse fibroblast cell) and 3T3 Balb/c with/without UV irradiation (dose 5Jcm−2). Fluorescence methods for the study of cell damage using fluorescence probes offer results for the evaluation of cytotoxicity and cell viability of adherent cells. We detected intracellular production of ROS investigated by molecular probe CM-H2DCFDA, which is primarily sensitive to the increased production of hydrogen peroxide or its downstream products. Toxic effects on the cellular level were identified by viability tests using Neutral Red uptake and MTT assay, where the live cells reduce yellow soluble 3-(4,5-dimethylthiazol-2-yl)-2,5-diphenyl tetrazolium bromide (MTT) to insoluble formazan crystals. The reaction was investigated on mitochondrial membrane of living cells and the type of cell death was determined using Apoptosis detection kit. Cytotoxicity tests revealed health risks of using Chlorophyllin and Unicert Red K 7054-J. [Copyright &y& Elsevier]

To assess the role of tau protein, beta-amyloid(1–42) and cystatin C in the diagnostics of Alzheimer dementia (AD) and other neurodegenerative diseases (ND) by comparing to the control groups (CG). The levels of tau protein, beta-amyloid(1–42) and cystatin C were assessed in the set of 69 patients (AD + ND, 33 males, 36 females, aged 22–90, mean 60.5 + 16.1 years), and in a control group of 69 subjects without the affection of the central nervous system (CGAD + CGND, 33 males, 36 females, aged 20–91, mean 60.5 + 16.0 years). Statistically significant increased tau protein levels ( P = 0.0001) and index tau/beta-amyloid(1–42) levels ( P = 0.0002) were shown in the group of AD patients, compared to the group of ND patients. One-way ANOVA analysis with Bonferonni post hoc test did not show any significant differences of the cystatin C values between any of the compared groups. ROC analysis showed at least one tie between the positive actual state group (AD) and the negative actual state group (ND) by CSF cystatin C and at least one tie between the positive actual state group and the negative actual state group by CSF tau protein. Our study confirmed previously reported results only in part. While tau protein seems to be quite a reliable marker of AD, the role of beta-amyloid(1–42) and cystatin C in AD diagnosis remains at least questionable. [ABSTRACT FROM AUTHOR]

An abstract of the research paper "Low-Level 45,X/46, XX Mosaicism Up to 10% of Aneuploidy Seems Not to Be Associated With Higher Prevalence of Congenital Cardiovascular Disease and Thoracic Aorta Dilatation: A Prospective Study," by J. Dostal and colleagues is presented.