Hospital de Órbigo, Spain
Hospital de Órbigo, Spain

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Barberan J.,Hospital Central Of La Defensa Gomez Ulla | Mensa J.,Hospital Clinic i Provincial | Llamas J.C.V.,University of Oviedo | Ramos I.J.,University of Valencia | And 44 more authors.
Revista Espanola de Quimioterapia | Year: 2011

Antifungal treatment in the hematological patient has reached a high complexity with the advent of new antifungals and diagnostic tests, which have resulted in different therapeutic strategies. The use of the most appropriate treatment in each case is essential in infections with such a high mortality. The availability of recommendations as those here reported based on the best evidence and developed by a large panel of 48 specialists aimed to answer when is indicated to treat and which agents should be used, considering different aspects of the patient (risk of fungal infection, clinical manifestations, galactomanann test, chest CT scan and previous prophylaxis) may help clinicians to improve the results.

Fofanova-Gambetti O.V.,Oregon Health And Science University | Hwa V.,Oregon Health And Science University | Wit J.M.,Leiden University | Domene H.M.,Ricardo Gutierrez Childrens Hospital | And 18 more authors.
Journal of Clinical Endocrinology and Metabolism | Year: 2010

Context: To date, 16 IGFALS mutations in 21 patients with acid-labile subunit (ALS) deficiency have been reported. The impact of heterozygosity for IGFALS mutations on growth is unknown. Objective: The study evaluates the impact of heterozygous expression of IGFALS mutations on phenotype based on data collected by the International ALS Consortium. Subjects/Methods: Patient information was derived from the IGFALS Registry, which includes patients with IGFALS mutations and family members who were either heterozygous carriers or homozygous wild-type. Within each family, the effect of IGFALS mutations on stature was analyzed as follows: 1) effect of two mutant alleles (2ALS) vs. wild-type (WT); 2) effect of two mutant alleles vs. one mutant allele (1ALS); and 3) effect of one mutant allele vs. wild-type. The differences in height SD score (HtSDS) were then pooled and evaluated. Results: Mean HtSDS in 2ALS was -2.31 ± 0.87 (less than -2 SDS in 62%); in 1ALS, -0.83 ± 1.34 (less than -2 SDS in 26%); and in WT, -1.02 ± 1.04 (less than -2 SDS in 12.5%). When analyses were performed within individual families and pooled, the difference in mean HtSDS between 2ALS and WT was -1.93 ± 0.79; between 1ALS and WT, -0.90 ± 1.53; and between 2ALS and 1ALS, -1.48 ± 0.83. Conclusions: Heterozygosity for IGFALS mutations results in approximately 1.0 SD height loss in comparison with wild type, whereas homozygosity or compound heterozygosity gives a further loss of 1.0 to 1.5 SD, suggestive of a gene-dose effect. Further studies involving a larger cohort are needed to evaluate the impact of heterozygous IGFALS mutations not only on auxology, but also on other aspects of the GH/IGF system. Copyright © 2010 by The Endocrine Society.

De Pablo A.,Hospital University 12 Of Octubre | Juarros L.,Hospital University 12 Of Octubre | Jodra S.,Hospital University 12 Of Octubre | Perez V.,Hospital University 12 Of Octubre | And 7 more authors.
Transplantation Proceedings | Year: 2013

This cross-sectional, concurrent and descriptive study presents the decisions regarding patients referred to our Lung Transplantation Unit (LTxU). Each patient is discussed in a multidisciplinary clinical session (phase I), rejecting some and accepting others for assessment in our LTxU (phase II) according to criteria of the National and International Guidelines for Transplantation. A protocol assessment in phase II, leads to a decision to reject, accept, or follow-up the candidate for LTx. Among 214 evaluation requests received in our unit from May 2008 to December 2011, 37 patients (17%) were rejected based on the information sent to our LTxU. Among the patients evaluated in phase II, 62 (28.9%) were put on the waiting list, 125 (58.4%) were rejected, and twenty-seven (12.6%) were postponed for future reconsideration, results that were similar to those described in the literature. The main disease referred for LTx was obstructive airflow (n = 98; 45.7%), followed by interstitial lung disease (ILD; n = 66; 30.8%), cystic fibrosis or bronchiectasis (n = 20; 9.3%), or primary pulmonary hypertension group 1 (n = 20; 9.3%). Ten patients (4.6%) were diagnosed with other respiratory diseases. Most patients (n = 165; 77.1%) lived in the region of our hospital (Madrid). The main reasons to reject patients for LTx were malnutrition, severe disease in other organs, toxic habits, and refusal of treatment. Finally, one out of four referred patients was accepted for LTx. In addition to serious comorbidities in various organs, a high percentage of patients who were not accepted for LTx because of these factors might have been of accepted had these conditions been corrected before patient referral. © 2013 Elsevier Inc.

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