Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes

published_or_final_versio

Giant Graviton Oscillators

We study the action of the dilatation operator on restricted Schur polynomials labeled by Young diagrams with p long columns or p long rows. A new version of Schur-Weyl duality provides a powerful approach to the computation and manipulation of the symmetric group operators appearing in the restricted Schur polynomials. Using this new technology, we are able to evaluate the action of the one loop dilatation operator. The result has a direct and natural connection to the Gauss Law constraint for branes with a compact world volume. We find considerable evidence that the dilatation operator reduces to a decoupled set of harmonic oscillators. This strongly suggests that integrability in N=4 super Yang-Mills theory is not just a feature of the planar limit, but extends to other large N but non-planar limits.Comment: 72 page

Effect of plant nitrogen ultilizing efficiencies on Rhizospheric proteolytic bacterial communities of two maize inbred lines

Effect of two maize lines with different N uptake efficienc

Detection of enteroviral infection in myocardial tissues by polymerase chain reaction (PCR).

OBJECTIVE: To determine if enteroviral infection is linked to myocarditis and dilated cardiomyopathy. Enteroviruses, especially coxsackieviruses, appear to be the most common agents of viral myocarditis. METHODS: We collected 53 endomyocardial biopsies and two autopsy specimens from 41 patients affected by myocarditis or dilated cardiomyopathy. The patients were diagnosed clinically, hemodynamically, virologically and histologically (Dallas classification). We tested for the presence of enteroviral sequences by PCR, using 5prime prime or minute non-coding (coxsackievirus B3, CB3, map position 450--474, 584--603) derived primers. Specificity was confirmed using the Southern blot. We used a fraction of CB3 acutely infected mouse myocardial tissue as a control. RESULTS: We detected enteroviral sequences in four patients with active myocarditis, borderline myocarditis or cardiomyopathy. The patient with active myocarditis had shown neutralizing antibodies in serologic analysis for coxsackievirus B3 and B5. CONCLUSIONS: The data support a weak link of enteroviral infection to human myocarditis and dilated cardiomyopathy, at least when using a PCR assay on biopsies

Etiopathogenesis of dilated cardiomyopathies].

This study was carried out on 43 patients affected by dilated cardiomyopathy to investigate some of the etiopathological hypotheses on this illness. The Authors investigated: the persistence of virus genoma (coxsackie, HBV) on endomyocardial biopsies; the pattern of the II class major histocompatibility complex (MHC) were in the blood lymphocytes; the microvascular aspect of coronary circulation in the endomyocardial biopsies. Finally, in a separated group of 19 patients, the microvascular circulation was studied on skin biopsies and correlated with diabetic, valvular and normal subject. The results showed a 14% positivity for the presence of the virus genoma and a significant predominate of DR5 in the II class MHC of patients with a worse ventricular function. Capillary vessels of the coronary microcirculation were dilated in the 48% of the patients, especially in more compromised subjects. Viral myocarditis seem to play a role in the etiopathogenesis of dilated cardiomyopathies (DCM) and the pattern of MHC could influence the progression of the illness. The microcirculation is probably a pathophysiological aspect. No etiological hypothesis seems to predominate

Human herpesvirus 6 in human lymphomas: identification of specific sequences in Hodgkin’s lymphomas by polymerase chain reaction

In search of a possible involvement of the human herpesvirus type 6 (HHV-6) in human Hodgkin's and non-Hodgkin's lymphomas, we studied the levels of anti-HHV-6 antibodies in the sera of 94 cases by an immunofluorescence assay, as well as the presence of HHV-6 sequences in the affected tissues of 66 cases by polymerase chain reaction, using one set of primer oligonucleotides. Our results showed higher anti-HHV-6 antibody titers in human lymphomas than in normal blood donors, but the difference is statistically significant only when normal donors are compared with Hodgkin's lymphoma cases. HHV-6 sequences were detected in 3 of 25 Hodgkin's lymphomas and 0 of the 41 cases of non-Hodgkin's lymphomas studied. The three cases positive for HHV-6 sequences belong to the nodular sclerosis-lymphocyte depletion histologic subtype and share remarkable similarities in their clinical features. Furthermore, Southern blot analysis of total genomic DNA obtained from the neoplastic tissues of two of the three patients showed the same restriction fragment length polymorphism. Our results suggest that: (1) the high level of anti-HHV-6 antibodies in Hodgkin's disease is due to an activation of the immune system not related to the presence of HHV-6 sequences in affected lymph nodes; (2) the presence of HHV-6 sequences in human lymphoid tissues is not a frequent event, rather it is in fact a very rare event in non-Hodgkin's lymphomas, while in Hodgkin's cases it is more frequent than previously reported on the basis of Southern blot analysis; and (3) the presence of HHV-6 sequences in Hodgkin's lymphomas may have a relation with the clinical presentation of the disease