Mesenteric Cyst with GI Symptoms: A Fluid Approach to Treatment—Case Report and Literature Review

Digestive Diseases and Sciences - Mesenteric cysts are defined as a heterogeneous group of intra-abdominal cystic lesions of the mesentery or omentum that may be found in any portion of the...     

Molecular characterization of G6PD deficiency in Cyprus

In the present study, we determined the frequency of glucose-6-phosphate dehydrogenase (G6PD) deficiency in Cyprus using two different procedures in two separate adult population groups: a semiquantitative fluorescence test on blood spotted on filter paper and a quantitative spectrophotometric test on liquid blood. The frequency of G6PD deficiency among healthy adult males was found to be 5.1% using the semiquantitative procedure and 6.4% using the quantitative procedure. Neither method was able to detect all the expected female heterozygotes (5.3% and 47.1% of the expected number, respectively). A total of 21 male hemizygotes, 1 female homozygote and 9 female heterozygotes that tested positive for G6PD deficiency were studied at the molecular level. All 32 chromosomes were genotyped and five different mutations were identified. The Mediterranean mutation in exon 6 (563C-->T) (Ser188Phe) was found to be the most common variant in the Cypriot population, accounting for 52.6% of the deficient alleles. In the remaining chromosomes, four different mutations were identified: three known mutations, Kaiping 1388G-->A (Arg463His), Chatham 1003G-->A (Ala335Thr) and Acrokorinthos 463C-->G (His155Asp), and one previously undescribed mutation in exon 3, 148C-->T (Pro50Ser), which we called G6PD Kambos. We conclude that the frequency of G6PD deficiency in Cypriot males is 6.4%, and that this deficiency is the result of several different mutations. Although all the individuals carrying the Mediterranean variant can be detected using a semiquantitative screening method, a quantitative enzyme measurement is required to detect the G6PD variants with less severe enzyme deficiencies, while the most appropriate method for heterozygote detection is DNA analysis.     

Multicentre phase III trial on fludarabine, cytarabine (Ara-C), and idarubicin versus idarubicin, Ara-C and etoposide for induction treatment of younger, newly diagnosed acute myeloid leukaemia patients

Fludarabine plus cytarabine (Ara-C) and idarubicin (FLAI) is an effective and well-tolerated induction regimen for the treatment of acute myeloid leukaemia (AML). This phase III trial compared the efficacy and toxicity of FLAI versus idarubicin plus Ara-C and etoposide (ICE) in 112 newly diagnosed AML patients <60 years. Fifty-seven patients received FLAI, as the first induction-remission course, and 55 patients received ICE. Post-induction treatment consisted of high-dose Ara-C (HDAC). After HDAC, patients in complete remission (CR) received a second consolidation course (mitoxantrone, etoposide, Ara-C) and autologous stem cell transplantation (auto-SCT) or allogeneic (allo)-SCT, according to the age, disease risk and donor availability. After a single induction course, CR rate was 74% in the FLAI arm and 51% in the ICE arm (P = 0.01), while death during induction was 2% and 9% respectively. Both haematological (P = 0.002) and non-haematological (P = 0.0001) toxicities, especially gastrointestinal (i.e. nausea, vomiting, mucositis and diarrhoea), were significantly lower in FLAI arm. In both arms, relapses were more frequent in patients who were not submitted to allo-SCT. After a median follow-up of 17 months, 30% and 38% of the patients are in continuous CR in FLAI and ICE arm respectively. Our prospective randomised study confirmed the anti-leukaemic effect and the low toxic profile of FLAI as induction treatment for newly diagnosed AML patients.     

In vivo and in vitro evaluation of left ventricular thrombi by two-dimensional echocardiography. Comparison with cineventriculography

The purpose of this study was to assess the capability of two-dimensional echocardiography to identify left ventricular thrombi as compared to standard single plane cineventriculography in 284 patients, who underwent both procedures within 24 hours for diagnostic purposes. In order to obtain informations about the degree of thrombus organization and diagnostic accuracy of the echocardiographic technique, two-dimensional echocardiographic examinations were also performed in 31 thrombi from 16 autopsy specimens. In 249 cases the results were negative and in 14 cases positive by both techniques. Seven cases were positive by cineventriculography but negative by 2D-echocardiography. In seven cases the findings were equivocal by two-dimensional echocardiography; three of them were negative, two positive, and two equivocal by cineventriculography. In two cases the results were negative by two-dimensional echocardiography but equivocal by cineventriculography. Finally five cases were diagnosed to have a thrombus but two-dimensional echocardiography but not by cineventriculography. In two patients, positive by two-dimensional echocardiography, who were on anticoagulant therapy, follow-up studies showed the disappearance of left ventricular thrombi. In all of them the thrombi showed tissue characteristics similar to those of fresh thrombi examined in vitro. Two-dimensional echocardiography seems to be more reliable than cineventriculography for assessing the presence, extension, number, and morphology of left ventricular thrombi. In vitro studies suggest that two-dimensional echocardiography cannot visualize small thrombi, that fibrotic areas may simulate a thrombus and that in some cases under or overestimation is possible.     

Amelioration of Neurosensory Structure and Function in Animal and Cellular Models of a Congenital Blindness

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