An isolated anterior mitral leaflet cleft: a case report

<p>Abstract</p> <p>Introduction</p> <p>The anterior mitral leaflet cleft is an unusual congenital lesion most often encountered in association with other congenital heart defects. The isolated anterior leaflet cleft is quite a rare anomaly and is usually cause of mitral valve regurgitation. The importance of the lesion is that it is often correctable. When feasible, cleft suture and, eventually, annuloplasty are preferable to valve replacement. Echocardiography is the first choice technique in the evaluation of mitral valve disease, providing useful information about valve anatomy and hemodynamic parameters.</p> <p>Case presentation</p> <p>We present a case of an isolated anterior mitral leaflet cleft producing moderate-severe mitral regurgitation correctly identified by echocardiography and successfully surgically corrected.</p> <p>Conclusion</p> <p>Isolated cleft is a rare aberration, that has to be known in order to be diagnosed. Transthoracic and transesophageal echocardiography is the most useful non invasive technique for cleft diagnosis and to indicate the right surgical correction.</p

The pharmacology and activity of non-steroidal anti-inflammatory drugs (NSAIDs): a review of their use as an adjuvant treatment in patients with HBV and HCV chronic hepatitis

Introduction: Different DNA and RNA viruses exploit common strategies to support their persistence and replication in infected individuals. In particular, the hepatitis B virus (HBV) and the hepatitis C virus (HCV) cause major health problems worldwide. These pathogens exert an immunosuppressive role by inducing the persistent activation of cyclooxygenase-2 (COX-2) and an increased synthesis of prostaglandin E2 (PGE2). The suppression of this proinflammatory network by non-steroidal anti-inflammatory drugs (NSAIDs) has been proposed as a therapeutic approach to decrease viral replication. Materials and methods: In this review, the role of inflammation in the support of viral replication and NSAIDs and ketoprofen pharmacology are briefly discussed. In addition, studies that have investigated the use of NSAIDs for the treatment of HBV and HCV chronic hepatitis, which were identified by a systematic literature search of PubMed and MEDLINE, are reported. Results: To date, pegylated-interferon (PEG-IFN) and/or nucleot(s)ide analogues and PEG-IFN and ribavirin remain the standard therapy for HBV and HCV chronic hepatitis, respectively. Discussion: The use of NSAIDs in patients with chronic viral hepatitis has only a ''historical'' interest. Nevertheless, the possible usefulness of ketoprofen with PEG-IFN and ribavirin for HCVinfected patients, non-responders to standard therapy or with genotype 1, should be evaluated in future clinical studies

The impact of active HIV-1 replication on the physiological age-related decline of immature-transitional B-cells in HIV-1 infected children

n/

Burkitt's lymphoma mimicking EBV disease as first sign of vertical HIV infection in an adolescent

Burkitt's Lymphoma (BL) rarely represents the first clinical manifestation of vertical HIV infection in adolescent in Western Europe. We report the case of a 17 year-old boy with two week history of fever and enlarged cervical lymph nodes firstly misdiagnosed as EBV infection, subsequently diagnosed as Burkitt's Lymphoma and vertical HIV infection

The inhibition of RasGRF2, but not RasGRF1, alters cocaine reward in mice

Ras/Raf/MEK/ERK(Ras-ERK) signaling has been implicated in the effects of drugs of abuse. Inhibitors of MEK1/2, the kinases upstream of ERK1/2, have been critical in defining the role of the Ras-ERK cascade in drug-dependent alterations in behavioral plasticity, but the Ras family of small GTPases has not been extensively examined in drug-related behaviors. We examined the role of Ras Guanine Nucleotide Releasing Factor 1(RasGRF1) and 2(RasGRF2), upstream regulators of the Ras-ERK signaling cascade, on cocaine self-administration(SA) in male mice. We first established a role for Ras-ERK signaling in cocaine SA, demonstrating that pERK1/2 is upregulated following SA in C57Bl/6N mice in striatum. We then compared RasGRF1 and RasGRF2 knock-out(KO) mouse lines, demonstrating that cocaine SA in RasGRF2 KO mice was increased relative to wild-type(WT) controls, while RasGRF1 KO and WT mice did not differ. This effect in RasGRF2 mice is likely mediated by the Ras-ERK signaling pathway, as pERK1/2 upregulation following cocaine SA was absent in RasGRF2 KO mice. Interestingly, the lentiviral knockdown of RasGRF2 in the NAc had the opposite effect to that in RasGRF2 KO mice, reducing cocaine SA. We subsequently demonstrated that the MEK inhibitor PD325901 administered peripherally prior to cocaine SA increased cocaine intake, replicating the increase seen in RasGRF2 KO mice, while PD325901 administered into the NAc decreased cocaine intake, similar to the effect seen following lentiviral knockdown of RasGRF2. These data indicate a role for RasGRF2 in cocaine SA in mice that is ERK-dependent, and suggest a differential effect of global versus site-specific RasGRF2 inhibition

Evaluation of human gene variant detection in amplicon pools by the GS-FLX parallel Pyrosequencer

<p>Abstract</p> <p>Background</p> <p>A new priority in genome research is large-scale resequencing of genes to understand the molecular basis of hereditary disease and cancer. We assessed the ability of massively parallel pyrosequencing to identify sequence variants in pools. From a large collection of human PCR samples we selected 343 PCR products belonging to 16 disease genes and including a large spectrum of sequence variations previously identified by Sanger sequencing. The sequence variants included SNPs and small deletions and insertions (up to 44 bp), in homozygous or heterozygous state.</p> <p>Results</p> <p>The DNA was combined in 4 pools containing from 27 to 164 amplicons and from 8,9 to 50,8 Kb to sequence for a total of 110 Kb. Pyrosequencing generated over 80 million base pairs of data. Blind searching for sequence variations with a specifically designed bioinformatics procedure identified 465 putative sequence variants, including 412 true variants, 53 false positives (in or adjacent to homopolymeric tracts), no false negatives. All known variants in positions covered with at least 30× depth were correctly recognized.</p> <p>Conclusion</p> <p>Massively parallel pyrosequencing may be used to simplify and speed the search for DNA variations in PCR products. Our results encourage further studies to evaluate molecular diagnostics applications.</p

Spatial diversity of planktonic protists in the Lagoon of Venice (LTER-Italy) based on 18S rDNA

Transitional waters are subject to a high degree of variability in space and time. In this study, protist plankton communities of the Lagoon of Venice were compared among four sites characterised by different environmental conditions with a metabarcoding approach. High throughput sequencing (HTS) of the V4-18S rDNA fragment in 32 samples collected on four dates, from April 2016 to February 2017, produced 1,137,113 reads, which were grouped into 4,058 OTUs at 97% similarity. Bacillariophyta and Ciliophora were the most abundant groups in the entire dataset in terms of read number (27.6% and 16.6%, respectively), followed by Dinophyta (10.9%), Cryptophyceae (9.7%), and Syndiniales (6.1%). The contribution of protist groups markedly varied across the seasons, but spatial differences were also recorded in the lagoon. In April, a higher contribution of Bacillariophyta characterized St1 and 5 (68.0% and 61.1%), whereas Sts2 and 3 showed a higher percentage of Ciliophora (18.6 and 23.4%, respectively) and dinoflagellates (10.3 and 7.7%). In July, diatom blooms occurred at Sts1, 2 and 3, with some differences in the dominant species. At St2 Dinophyta reached the highest contribution of the whole sampling period in the area (30.6%), while St5 was quite distinct, with a low contribution of diatoms and a dominance of Ciliophora (34.0%) and Trebouxiophyceae (36.4%). All the stations in November were characterized by relatively high abundance of Ciliophora (21.4-51.9%). In February, diatom contribution was relevant only at St5 (29.3%), Teleaulax acuta peaked at St3 (ca. 36%), Syndiniales at St2 (38.8%) and Dictyochophyceae at St1 (24.2%). The α-diversity indexes (observed OTUs, Shannon and Pielou evenness) showed a high variability over space and time. Overall, diversity and community composition were rather similar between the intermediate and deeper Sts2 and 3 on all sampling dates whereas they at time differed between the landward and shallow Sts1 and 5. While the most marked differences occurred over the temporal scale, the depth of the station and the relatedness with the external marine coastal environment appear to play a major role in the spatial distribution of protist communities within the lagoon