Stability study of dehydrocholesterols in dried spot of blood from patients with Smith–Lemli–Opitz syndrome, using filter-paper treated with butylated hydroxytoluene

Considering the clinical importance of implementing a screening method for cholesterol and dehydrocholesterols in dried blood spot, this study aims to standardize the preanalytical variability of DHC in DBS for detecting SLOS by using filter paper impregnated with BHT as an antioxidant

Lipocalina e Delayed Graft Function nel paziente trapiantato renale

INTRODUZIONE: Il rene trapiantato è esposto agli effetti dell’ischemia-riperfusione responsabili di ritardata ripresa funzionale dell’organo (delayed graft function; DGF). DGF può incidere negativamente sull’evoluzione del rene trapiantato. Nel presente studio è stato valutato il ruolo della lipocalina urinaria quale predittore di DGF. MATERIALI E METODI: Sono stati valutati pazienti sottoposti a trapianto di rene da donatore cadavere. Prelievi ematici erano effettuati immediatamente prima del trapianto. Le urine erano raccolte per le 24 ore successive al trapianto. DGF era definita dalla necessità di trattamento dialitico entro la prima settimana dal trapianto. RISULTATI: Sono stati valutati 20 pazienti. I pazienti che avevano una rapida ripresa funzionale del rene trapiantato (NO-DGF) erano 14 (70%). DGF era osservata in 6 pazienti. L’età media nei DGF era superiore (58±6 Vs 51±11, p=0.001). Nei pazienti DGF risultavano significativamente ridotta la diuresi (57±35 Vs 4150 ± 2230 ml/24h; p=0.001) e la escrezione urinaria di creatinina (191±184 Vs 683±660 mg/24h; p=0.001), misurate nel primo giorno successivo al trapianto. Non erano osservate significative differenze tra pazienti DGF e NO-DGF per la escrezione urinaria di lipocalina (1,20±2,20 Vs 2,44±4,0 mg/24h; p<0.20). In univariata, DGF risultava associata negativamente alla diuresi (r2=-0.795, p=0.001) ed alla escrezione urinaria di creatinina (r2=-0.480, p=0.037) e positivamente all’età (r2=0.446, p=0.049). In multivariata diuresi (p=0.014) ed escrezione urinaria di creatinina (p=0.039) erano associati a DFG. CONCLUSIONI: Lipocalina urinaria, misurata nel giorno successivo al trapianto renale, non è biomarcatore predittivo di DGF. I risultati del presente studio possono essere stati influenzati dal campione limitato di pazienti e dalla bassa incidenza di DGF

The effect of age on daily positive emotions and work behaviors

This study draws on socioemotional selectivity and person–job fit theories to investigate the emotional bases for age-related differences in daily task crafting and in-role performance. We tested a mediation model in which age is related to positive emotions that in turn predict task crafting and in-role performance. A total of 256 people working in multiple organizations participated in a 5-day diary study. Multilevel modeling showed that, at the person level of analysis, age is significantly and positively related to positive emotions and task crafting and, via crafting, to in-role performance. No significant mediation of high- and low-arousal positive emotions was found between age and task crafting. However, at the day level of analysis, high-arousal positive emotions are positively related to task crafting, and this in turn is positively related to in-role performance. These findings make important theoretical contributions to understanding within-person processes associated with employee age in addition to more traditional between-person factors. They also have implications for managing an age-diverse workforce by means of job crafting.info:eu-repo/semantics/publishedVersio

Sterol profiles in plasma and erythrocyte membranes in patients with Smith-Lemli-Opitz syndrome: a six-year experience

Background: This study reports our experience over the last six years in the diagnosis of Smith-Lemli-Opitz syndrome and other inborn errors of cholesterol biosynthesis. Methods: Gas chromatography/mass spectrometry was used to obtain sterol profiles in plasma and erythrocyte membranes of suspected patients. Results: Plasma sterol reference values calculated in unaffected subjects (ns276) were in agreement with those previously reported. Among patients investigated from 2005 to 2010, we report 16 patients affected by Smith-Lemli-Opitz syndrome, three of whom represent new cases and 13 of whom were follow-up patients. In this period we also identified a new case of chondrodysplasia punctata 2 X-linked. The estimated incidence obtained for Smith-Lemli-Opitz syndrome was 1:93 suspected patients (1.08%). We also studied the effect of storage on the dehydrocholesterols/ cholesterol ratio in plasma and erythrocyte membranes of patients affected by Smith-Lemli-Opitz syndrome stored at –208C for up to 22 and 20 months, respectively. A significant negative linear correlation between storage time and the dehydrocholesterols/cholesterol ratio was identified in both plasma and erythrocyte membranes. The decrease in the dehydrocholesterols/cholesterol ratio in erythrocyte membranes was at least two-fold higher than in plasma. Conclusions: The results of this study may be helpful for diagnosis and interpretation of data in patients with findings suggestive of a cholesterol biosynthesis defect

An enhanced procedure for the analysis of organic binders in Pompeian's wall paintings from Insula Occidentalis

Abstract Quantitation of paint powders of ancient wall paintings is often hindered by the calcite contamination during samples withdrawal. To overcome this problem, a new approach was explored based on the mechanical pulverization of the paint powder followed by the evaluation of its true concentration, namely binders, pigments, and decaying compounds, from the comparison of the calcite FT-IR peak area at 2510 cm−1 with that of the corresponding underlying calcite used as calibrator. After extraction of the pulverized paint powder with polar and nonpolar solvents, liquid chromatography, gas chromatography with flame ionization detection, and gas chromatography–mass spectrometry were used to estimate the free amino acids, and fatty acids profiles. Compared to our previous investigation, the results obtained showed a better yield of the extracted organic materials as mg/kg of powder and also a qualitative improvement of the lipids profile

Polar and non-polar organic binder characterization in Pompeian wall paintings: comparison to a simulated painting mimicking an a secco technique.

The use of Fourier transform infrared spectromicroscopy and mass spectrometry (MS) allowed us to characterize the composition of polar and non-polar binders present in sporadic wall paint fragments taken from Pompeii's archaeological excavation. The analyses of the polar and non-polar binder components extracted from paint powder layer showed the presence of amino acids, sugars, and fatty acids but the absence of proteinaceous material. These results are consistent with a water tempera painting mixture composed of pigments, flours, gums, and oils and are in agreement with those obtained from a simulated wall paint sample made for mimicking an ancient "a secco" technique. Notably, for the first time, we report the capability to discriminate by tandem MS the presence of free amino acids in the paint layer

Cardiac Pacemaker Battery Discharge After External Electrical Cardioversion for Broad QRS Complex Tachycardia

External electrical cardioversion or defibrillation may be necessary in patients with implanted cardiac pacemaker (PM) or implantable cardioverter defibrillator (ICD). Sudden discharge of high electrical energy employed in direct current (DC) transthoracic countershock may damage the PM/ICD system resulting in a series of possible device malfunctions. For this reason, when defibrillation or cardioversion must be attempted in a patient with a PM or ICD, some precautions should be taken, particularly in PM dependent patients, in order to prevent damage to the device. We report the case of a 76-year-old woman with a dual chamber PM implanted in the right subclavicular region, who received two consecutive transthoracic DC shocks to treat haemodynamically unstable broad QRS complex tachycardia after cardiac surgery performed with a standard sternotomic approach. Because of the sternal wound and thoracic drainage tubes together with the severe clinical compromise, the anterior paddle was positioned near the pulse generator. At the following PM test, a complete battery discharge was detected

Cardiac pacemaker battery discharge after external electrical cardioversion for broad QRS Complex Tachycardia

External electrical cardioversion or defibrillation may be necessary in patients with implanted cardiac pacemaker (PM) or implantable cardioverter defibrillator (ICD). Sudden discharge of high electrical energy employed in direct current (DC) transthoracic countershock may damage the PM/ICD system resulting in a series of possible device malfunctions. For this reason, when defibrillation or cardioversion must be attempted in a patient with a PM or ICD, some precautions should be taken, particularly in PM dependent patients, in order to prevent damage to the device. We report the case of a 76-year-old woman with a dual chamber PM implanted in the right subclavicular region, who received two consecutive transthoracic DC shocks to treat haemodynamically unstable broad QRS complex tachycardia after cardiac surgery performed with a standard sternotomic approach. Because of the sternal wound and thoracic drainage tubes together with the severe clinical compromise, the anterior paddle was positioned near the pulse generator. At the following PM test, a complete battery discharge was detected

Ultrasound tissue characterization detectspreclinical myocardial structural changes inchildren affected by Duchenne muscular dystrophy

AbstractObjectivesOur goal was to identify early changes in myocardial physical properties in children with Duchenne muscular dystrophy (DMDch).BackgroundDuchenne muscular dystrophy (DMD) is caused by the absence of dystrophin, which triggers complex molecular and biological events in skeletal and cardiac muscle tissues. Although about 30% of patients display overt signs of cardiomyopathy in the late stage of the disease, it is unknown whether changes in myocardial physical properties can be detected in the early (preclinical) stages of the disease.MethodsWe performed an ultrasonic tissue characterization (UTC) analysis of myocardium in DMDch with normal systolic myocardial function and no signs of cardiomyopathy. Both the cyclic variation of integrated backscatter (cvIBS) and the calibrated integrated backscatter (cIBS) were assessed in 8 myocardial regions of 20 DMDch, age 7 ± 2 years (range 4 to 10 years), and in 20 age-matched healthy controls.ResultsWe found large differences in the UTC data between DMDch and controls; the mean value of cvIBS was 4.4 ± 1.5 dB versus 8.8 ± 0.8 dB, whereas the mean value of cIBS was 36.4 ± 7.1 dB versus 26.9 ± 2.0 dB (p < 10−6for both). In DMDch, all eight sampled segments showed cIBS mean values to be significantly higher and cvIBS mean values to be significantly lower than those in the controls. Finally, interindividual differences were greater in DMDch than in controls for both parameters.ConclusionsThe myocardium in DMDch displays UTC features different from those in healthy controls. These results show that lack of dystrophin is commonly associated with changes in myocardial features well before the onset of changes of systolic function and overt cardiomyopathy