Analysis of CDKN1C in Beckwith Wiedemann syndrome

In this study we have examined 32 patients with Beckwith Wiedemann Syndrome (BWS) for mutations affecting the CDKN1C gene, including seven cases of familial BWS. Mutations were not detected in the coding region of the CDKN1C gene in any individual with BWS. However in two patients, two G/A base substitutions at adjacent positions in the 5'UTR were detected. These substitutions were also found in normal controls. Expression of CDKN1C in somatic tissues was examined in 18 of the 32 cases using semi-quantitative RT-PCR. CDKN1C expression was significantly reduced in the peripheral blood of three cases compared with controls. These results suggest that, although coding region mutations in the CDKN1C gene are rare in BWS, mutations disrupting CDKN1C expression may be found. Three of five informative patients exhibited biallelic CDKN1C expression in lymphocytes, cord blood, and kidney tissue, respectively. Biallelic expression was not associated with overall CDKN1C levels significantly different to those in controls. Patients who expressed CDKN1C biallelically, or who were low CDKN1C expressors, maintained monoallelic methylation in the Differentially Methylated Region 2 (DMR2) of the IGF2 locus. One patient expressing CDKN1C biallelically, maintained imprinted gene expression at the IGF2 locus. These results suggest that biallelic CDKN1C expression does not significantly perturb the overall levels of CDKN1C expression in somatic tissue. They also confirm other studies showing that the mechanisms associated with regulating CDKN1C expression and imprinting are separate from those regulating IGF2 imprinting.     

Recherche des agglutinines irrégulières en milieu obstétrical en Tunisie : étude à propos de 5369 femmes

Purpose of the studyTo evaluate the prevalence of alloimmunization in women followed in an obstetrical environment in Tunisia, to identify the specificities of antibodies found and to determine factors that could influence the appearance of this immunization.MethodsWe proceeded to a retrospective analysis of search for irregular antibodies at women followed up in obstetrical environment over nine consecutive years (2000–2008). The panel was officially defined and produced by the Regional Centre for Blood Transfusion in Sfax (Tunisia).ResultsOverall 5369 women benefited from 6575 antibody testing (average: 1.22; extremes: 1–14). The results were positive for 278 women (5.17 %), allowing to identify 216 antibodies or associations of antibodies. Among identified antibodies, those immune were found in 198 women. The rate of alloimmunization was 3.68 % (198/5369). The majority of the antibodies found was anti-Rh1, isolated or associated with another antibody, in 84.3 % of the total immunized women. The immunization of women according to the number of gestations showed a significant increasing rate ranging from 2.34 % for a first gestation to 5.27 % for four gestations or more. In addition, a significant difference was also noted between the rate of immunization in women who had received anti-Rh1 immunoglobulin and those who had not.ConclusionAnti-Rh1 immunization is the most frequent in the population of studied women. This could denote of an insufficiency in pregnancies follow-up and immunoprophylaxis protocols.     

D-penicillamine: a modulator of anti-DNA antibodies production.

The effect of D-Penicillamine (DP) on the in vitro production of anti-DNA antibodies by peripheral blood mononuclear cells (PBMC) from patients with systemic lupus erythematosus (SLE) and from healthy individuals was studied. Anti-DNA antibodies were measured in culture supernatants using a sensitive microenzyme-linked immunoassay technique. The results of this investigation suggest that DP can act as an immunomodulator capable of potentiating or initiating anti-DNA antibodies synthesis as well as suppressing it. Although PBMC from both SLE patients and controls were responsive to this thiol compound, our results indicate that PBMC from patients with SLE were more susceptible to the enhancing effect of DP than did PBMC from controls. The cellular mechanism by which this drug can modulate anti-DNA antibodies production is discussed.     

Danazol induced pancreatitis and hepatitis

Summary Danazol, a C17 alkylated anabolic steroid, has been tried as a hormonomodulator in the management of systemic lupus erythematosus. We report the case of a patient receiving 400 mg of danazol per day who developed mild pancreatitis associated with hepatitis, both induced by danazol.     

Reserve Mobilization,Membrane Damage and Solutes Leakage in Fenugreek Imbibed with Urban Treated Wastewater

Bulletin of Environmental Contamination and Toxicology - The study aimed to determine the impact of treated domestic wastewater on seed germination, seedling growth and reserve mobilization from...