BAC array CGH in patients with Velocardiofacial syndrome-like features reveals genomic aberrations on chromosome region 1q21.1

Background  

Microdeletion of the chromosome 22q11.2 region is the most common genetic aberration among patients with velocardiofacial syndrome (VCFS) but a subset of subjects do not show alterations of this chromosome region.     

Chronic disease,functional status,and self-ascribed causes of disabilities among noninstitutionalized older people in Spain

BACKGROUND: A major component of disability is related to chronic disease, but the study of self-reported causes of disability could add new aspects in understanding this process. The main objective of this work was to determine the associations between chronic diseases and disability and to describe the pattern of self-reported causes of the disabilities present in older persons. METHODS: We carried out a survey in a probabilistic sample of people aged 65 and older of the city of Madrid. The initial sample size was 1001. Subjects were interviewed in their homes. We asked about the presence of 14 chronic conditions. Self-reported difficulty and dependence in 9 noninstrumental activities of daily living (ADLs) were ascertained. Subjects were asked to report the main cause responsible for the disability. Multivariate logistic regression models were constructed to estimate the association of each chronic condition with the probability of having disability. RESULTS: Final sample size was 772 people (overall response rate 77.0%). Interviews answered by proxies were 7.5%. Only 4.5% declared no chronic condition. Osteoarthitis/rheumatism was the most prevalent condition (56.8%). In addition, 63.2% were independent, 21.3% were independent with difficulty (in at least one ADL), and 15.5% were dependent (in at least one ADL). Subjects attributed to osteoarthitis and to aging 41.8% and 17.1% of all disabilities, respectively. Chronic conditions strongly associated with disability were cerebrovascular disease (adjusted odds ratio [OR]: 3.51 [95% confidence interval: 1.44-8.60]), depression/anxiety disorders (OR: 2.72 [1.83-4.05]), and diabetes (OR: 2.18 [1.24-3.83]). CONCLUSIONS: Cerebrovascular diseases, depression/anxiety disorders, and diabetes were the conditions more clearly related to disability. On the other hand, a large proportion of subjects attribute their disabilities to osteoarthritis and old age.     

Syncope and bundle branch block. Diagnostic yield of a stepped use of electrophysiology study and implantable loop recorders

Introduction and objectives

The objective of this study was to determine the diagnostic yield of a stepped protocol involving an electrophysiologic study (EPS) and implantable loop recorders (ILR) in patients with syncope and bundle branch block (BBB).

Methods

Eighty-five consecutive patients referred for syncope and BBB after initial non-diagnostic assessment underwent EPS including a pharmacological challenge with procainamide. Those patients without indication for defibrillator implantation received ILRs. Follow-up continued until diagnosis or end of battery life.

Results

The EPS was diagnostic in 36 patients (42%). The most frequent diagnoses were paroxysmal atrioventricular block (AVB) (n = 27), followed by ventricular tachycardia (VT) (n = 6). All patients with VT had structural heart disease; left BBB was more prevalent in this group. Thirty-eight patients received ILRs and diagnosis was achieved in 13 (34%) of them; paroxysmal AVB (n = 10) was the most frequent diagnosis. Median follow-up to diagnosis of paroxysmal AVB was 97 days (interquartile range 60-117 days). Paroxysmal AVB was more frequent in patients with right BBB and prolonged PR interval and/or axis deviation. We found no occurrence of VT or arrhythmic death during follow-up.

Conclusions

The most common etiology of syncope in patients with BBB was paroxysmal AVB, followed by VT. The stepped use of EPS and ILR in negative patients enables us to safely achieve a high diagnostic yield, given that VT is usually diagnosed during EPS.Full English text available from: www.revespcardiol.org     

Ursodeoxycholic Acid Ameliorates Experimental Ileitis Counteracting Intestinal Barrier Dysfunction and Oxidative Stress

The aim of this study was to evaluate the effect of ursodeoxycholic acid (UDCA) on intestinal permeability (IP) and reactive oxygen species (ROS) generation in indomethacin-induced enteropathy, a well-known experimental model of Crohn's disease. Seventy-eight male Wistar rats were randomly assigned to receive indomethacin, indomethacin + UDCA, or vehicles. Indomethacin induced a significant increase in the fraction of urinary excretion of 51Cr-EDTA following oral administration (7.9 +/- 1.3 vs 2.3 +/- 0.2%; P < 0.05) and lucigenin-amplified chemiluminescence in intestinal fragments ex vivo (10.1 +/- 1.9 vs 2.6 +/- 0.4 cpm x 10(3)/mg; P < 0.05) compared to controls. UDCA significantly reversed these effects (P < 0.05), without being incorporated in biliary bile acid composition (HPLC analysis). These findings support a local protective effect of UDCA in experimental ileitis by the modulation of intestinal barrier dysfunction and oxidative stress. In short, they provide insights into mechanisms of action of UDCA in intestinal inflammation and a new perspective on the treatment of Crohn's disease.     

Tenax extraction as a tool to evaluate the availability of polybrominated diphenyl ethers, DTT, and DTT metabolites in sediments

Solid-phase extraction with Tenax is one of the most used methods for determining the fraction of a pollutant that desorbs rapidly from sediment and thus is available for living beings. In the present study, this technique has been applied to sediment contaminated in the laboratory with polybrominated diphenyl ethers (PBDEs) and dichlorodiphenyltrichloroethane, dichlorodifenyldichloroethylene, and dichlorodifenyldichloroethane (generically, DDXs). The amount of chemical retained in sediment during the time of the experiment fit well with a three-phase exponential desorption model. The ratios between the rapidly desorbing fraction and the fraction desorbed during a fixed time (6 or 24 h) were calculated. The fraction desorbed in 6 h was lower than the rapidly desorbing fraction for most of PBDEs, whereas the fraction desorbed in 24 h exceeded the rapidly desorbing fraction for both groups of compounds. However, variability of these data suggests, when possible, a long time measure of desorption in order to achieve a more accurate estimation. Both the extent and the velocity of desorption were inversely related with the bromination degree and, consistently, with hydrophobicity and molecular size. In this way, low brominated PBDEs and DDXs showed a high availability relative to high brominated PBDEs.     

Role of arginine-56 within the structural protein VP3 of foot-and-mouth disease virus (FMDV) O1 Campos in virus virulence

FMDV O1 subtype undergoes antigenic variation under diverse growth conditions. Of particular interest is the amino acid variation observed at position 56 within the structural protein VP3. Selective pressures influence whether histidine (H) or arginine (R) is present at this position, ultimately influencing in vitro plaque morphology and in vivo pathogenesis in cattle. Using reverse genetics techniques, we have constructed FMDV type O1 Campos variants differing only at VP3 position 56, possessing either an H or R (O1Ca-VP3-56H and O1Ca-VP3-56R, respectively), and characterized their in vitro phenotype and virulence in the natural host. Both viruses showed similar growth kinetics in vitro. Conversely, they had distinct temperature-sensitivity (ts) and displayed significantly different pathogenic profiles in cattle and swine. O1Ca-VP3-56H was thermo stable and induced typical clinical signs of FMD, whereas O1Ca-VP3-56R presented a ts phenotype and was nonpathogenic unless VP3 position 56 reverted in vivo to either H or cysteine (C).