An unusual manifestation of severe edema in nephrotic syndrome

Keypoints What is known – Ascites is a common finding in nephrotic syndrome. – Adherence to treatment is important to prevent nephrotic syndrome complications. What is added – Transudation of ascitic fluid through the abdominal wall is a rare complication of nephrotic syndrome. – The treatment of transudation of ascitic fluid and skin lesions is challenging and improvement may take several weeks.info:eu-repo/semantics/publishedVersio

Chronic eosinophilic leukemia with a FIP1L1-PDGFRα fusion: case report and literature review

Chronic eosinophilia is habitually associated with allergic, infectious, inflammatory, neoplastic and endocrine conditions and exposure to certain drugs and toxic agents. However, eosinophilic proliferation may be primary, without identifiable causes, or provoked by clonal hematopoietic stem cell proliferation. Gene fusions involving PDGFR-α, PDGFR-β, and FGFR1 predispose patients to rare conditions with chronic myeloproliferation or lymphoproliferation, alterations in peripheral blood and bone marrow and diffuse tissue injury due to the release of cytokines and humoral factors from eosinophilic granules. The presence of the PDGFR-α rearrangement is commonly related to chronic eosinophilic leukemia, with alterations in peripheral mastocytes and neutrophils, and rarely to acute myeloid leukemia or T lymphoblastic lymphoma with eosinophilia. The most prevalent PDGFR-α rearrangement is one resulting from an interstitial deletion in the long arm of chromosome 4, that allows the formation of a neogene from the fusion of the FIP1L1 and PDGFRα genes. This codes a constitutively active tyrosine kinase, which can be inhibited by imatinib mesylate. In 2002, the successful treatment of a patient using imatinib to treat hypereosinophilic syndrome was reported. Since then, this drug has been utilized with fast, complete and lasting clinical responses. Here we describe a case of chronic eosinophilic syndrome with expression of the FIP1L1-PDGFR-α rearrangement.A eosinofilia no sangue e em tecidos está habitualmente associada a condições alérgicas, infecciosas, inflamatórias, neoplásicas, endocrinológicas, uso de medicamentos e exposição a agentes tóxicos. No entanto, pode ocorrer proliferação eosinofílica primária, sem causa aparente ou por expansão clonal da célula-tronco hematopoética. As neoplasias mielo ou linfoproliferativas associadas a rearranjos gênicos como PDGFRα, PDGFRβ e FGFR1 constituem condições raras nas quais ocorre mieloproliferação crônica, alterações no sangue periférico e na medula óssea e lesão tecidual de diferentes órgãos, a partir da liberação de citocinas e fatores humorais pelos grânulos eosinofílicos. A presença do rearranjo PDGFRα relaciona-se comumente à leucemia eosinofílica crônica, com envolvimento de mastócitos e neutrófilos e, mais raramente, à leucemia mielóide aguda ou ao linfoma linfoblástico T, com eosinofilia. O rearranjo PDGFRα mais comum é aquele resultante da deleção intersticial no braço longo do cromossomo 4, que permite a formação de um neogene a partir da fusão dos genes FIP1L1 e PDGFRα. Este codifica uma tirosino-quinase constitutivamente ativa que é inibida pelo mesilato de imatinibe. Em 2002 foi relatado o uso bem sucedido de mesilato de imatinibe em baixas doses em um paciente com síndrome hipereosinofilica e, desde então, vem-se utilizando esta droga com respostas clínicas rápidas, completas e duradouras. Descrevemos um caso de LEC com expressão do rearranjo FIP1L1-PDGFRα.Universidade Federal de São Paulo (UNIFESP) EPMHospital do Servidor Público Municipal de São PauloHospital Guilherme Álvaro UNIFESPUNIFESPUNIFESP, EPMHospital Guilherme Álvaro UNIFESPSciEL

Global Analysis of the Higgs Candidate with Mass ~ 125 GeV

We analyze the properties of the Higgs candidate with mass ~ 125 GeV discovered by the CMS and ATLAS Collaborations, constraining the possible deviations of its couplings from those of a Standard Model Higgs boson. The CMS, ATLAS and Tevatron data are compatible with Standard Model couplings to massive gauge bosons and fermions, and disfavour several types of composite Higgs models unless their couplings resemble those in the Standard Model. We show that the couplings of the Higgs candidate are consistent with a linear dependence on particle masses, scaled by the electroweak scale ~ 246 GeV, the power law and the mass scale both having uncertainties ~ 20%.Comment: 22 pages, 9 figures, v2 incorporates experimental data released during July 2012 and corrected (and improved) treatment of mass dependence of coupling

The Higgs as a Probe of Supersymmetric Extra Sectors

We present a general method for calculating the leading contributions to h -> gg and h -> gamma gamma in models where the Higgs weakly mixes with a nearly supersymmetric extra sector. Such mixing terms can play an important role in raising the Higgs mass relative to the value expected in the MSSM. Our method applies even when the extra sector is strongly coupled, and moreover does not require a microscopic Lagrangian description. Using constraints from holomorphy we fix the leading parametric form of the contributions to these Higgs processes, including the Higgs mixing angle dependence, up to an overall coefficient. Moreover, when the Higgs is the sole source of mass for a superconformal sector, we show that even this coefficient is often calculable. For appropriate mixing angles, the contribution of the extra states to h -> gg and h -> gamma gamma can vanish. We also discuss how current experimental limits already lead to non-trivial constraints on such models. Finally, we provide examples of extra sectors which satisfy the requirements necessary to use the holomorphic approximation.Comment: v4: 34 pages, 2 figures, typo corrected and clarification adde

Exploring the Higgs Portal with 10/fb at the LHC

We consider the impact of new exotic colored and/or charged matter interacting through the Higgs portal on Standard Model Higgs boson searches at the LHC. Such Higgs portal couplings can induce shifts in the effective Higgs-gluon-gluon and Higgs-photon-photon couplings, thus modifying the Higgs production and decay patterns. We consider two possible interpretations of the current LHC Higgs searches based on ~ 5/fb of data at each detector: 1) a Higgs boson in the mass range (124-126) GeV and 2) a `hidden' heavy Higgs boson which is underproduced due to the suppression of its gluon fusion production cross section. We first perform a model independent analysis of the allowed sizes of such shifts in light of the current LHC data. As a class of possible candidates for new physics which gives rise to such shifts, we investigate the effects of new scalar multiplets charged under the Standard Model gauge symmetries. We determine the scalar parameter space that is allowed by current LHC Higgs searches, and compare with complementary LHC searches that are sensitive to the direct production of colored scalar states.Comment: 27 pages, 11 figures; v2: references added, correction to scalar form factor, numerical results updated with Moriond 2012 data, conclusions unchange

Distinguishing Various Models of the 125 GeV Boson in Vector Boson Fusion

The hint of a new particle around 125 GeV at the LHC through the decay modes of diphoton and a number of others may point to quite a number of possibilities. While at the LHC the dominant production mechanism for the Higgs boson of the standard model and some other extensions is via the gluon fusion process, the alternative vector boson fusion is more sensitive to electroweak symmetry breaking through the gauge-Higgs couplings and therefore can be used to probe for models beyond the standard model. In this work, using the well known dijet-tagging technique to single out the vector boson fusion mechanism, we investigate its capability to discriminate a number of models that have been suggested to give an enhanced inclusive diphoton production rate, including the standard model Higgs boson, fermiophobic Higgs boson, Randall-Sundrum radion, inert-Higgs-doublet model, two-Higgs-doublet model, and the MSSM. The rates in vector-boson fusion can give more information of the underlying models to help distinguishing among the models.Comment: 31 pages, 3 figures; in this version some wordings are change

Adult Height in Patients with Advanced CKD Requiring Renal Replacement Therapy during Childhood.

BACKGROUND AND OBJECTIVES: Growth and final height are of major concern in children with ESRD. This study sought to describe the distribution of adult height of patients who started renal replacement therapy (RRT) during childhood and to identify determinants of final height in a large cohort of RRT children. DESIGN, SETTING, PARTICIPANTS, & MEASUREMENTS: A total of 1612 patients from 20 European countries who started RRT before 19 years of age and reached final height between 1990 and 2011 were included. Linear regression analyses were performed to calculate adjusted mean final height SD score (SDS) and to investigate its potential determinants. RESULTS: The median final height SDS was -1.65 (median of 168 cm in boys and 155 cm in girls). Fifty-five percent of patients attained an adult height within the normal range. Adjusted for age at start of RRT and primary renal diseases, final height increased significantly over time from -2.06 SDS in children who reached adulthood in 1990-1995 to -1.33 SDS among those reaching adulthood in 2006-2011. Older age at start of RRT, more recent period of start of RRT, cumulative percentage time on a functioning graft, and greater height SDS at initiation of RRT were independently associated with a higher final height SDS. Patients with congenital anomalies of the kidney and urinary tract and metabolic disorders had a lower final height than those with other primary renal diseases. CONCLUSIONS: Although final height remains suboptimal in children with ESRD, it has consistently improved over time

Genetic signatures of parental contribution in black and white populations in Brazil

Two hundred and three individuals classified as white were tested for 11 single nucleotide polymorphisms plus two insertion/deletions in their Y-chromosomes. A subset of these individuals (n = 172) was also screened for sequences in the first hypervariable segment of their mitochondrial DNA (mtDNA). In addition, complementary studies were done for 11 of the 13 markers indicated above in 54 of 107 black subjects previously investigated in this southern Brazilian population. The prevalence of Y-chromosome haplogroups among whites was similar to that found in the Azores (Portugal) or Spain, but not to that of other European countries. About half of the European or African mtDNA haplogroups of these individuals were related to their places of origin, but not their Amerindian counterparts. Persons classified in these two categories of skin color and related morphological traits showed distinct genomic ancestries through the country. These findings emphasize the need to consider in Brazil, despite some general trends, a notable heterogeneity in the pattern of admixture dynamics within and between populations/groups