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Castella M.,Autonomous University of Barcelona | Castella M.,Institute Salud Carlos III | Pujol R.,Autonomous University of Barcelona | Pujol R.,Institute Salud Carlos III | And 31 more authors.
Blood | Year: 2011

Fanconi anemia is characterized by congenital abnormalities, bone marrow failure, and cancer predisposition. To investigate the origin, functional role, and clinical impact of FANCA mutations, we determined a FANCA mutational spectrum with 130 pathogenic alleles. Some of these mutations were further characterized for their distribution in populations, mode of emergence, or functional consequences at cellular and clinical level. The world most frequent FANCA mutation is not the result of a mutational "hot-spot" but results from worldwide dissemination of an ancestral Indo-European mutation. We provide molecular evidence that total absence of FANCA in humans does not reduce embryonic viability, as the observed frequency of mutation carriers in the Gypsy population equals the expected by Hardy-Weinberg equilibrium. We also prove that long distance Alu-Alu recombination can cause Fanconi anemia by originating large interstitial deletions involving FANCA and 2 adjacent genes. Finally, we show that all missense mutations studied lead to an altered FANCA protein that is unable to relocate to the nucleus and activate the FA/BRCA pathway. This may explain the observed lack of correlation between type of FANCA mutation and cellular phenotype or clinical severity in terms of age of onset of hematologic disease or number of malformations. Source


Farias J.A.,Hospital de Ninos R. Gutierrez | Fernandez A.,Hospital de Ninos R. Gutierrez | Monteverde E.,Hospital de Ninos R. Gutierrez | Flores J.C.,Hospital de Ninos Jesus | And 15 more authors.
Pediatric Critical Care Medicine | Year: 2012

OBJECTIVE: To describe the characteristics and outcomes of mechanical ventilation in pediatric intensive care units during the season of acute lower respiratory infections. DESIGN: Prospective cohort of infants and children receiving mechanical ventilation for at least 12 hrs. SETTING: Sixty medical-surgical pediatric intensive care units. PATIENTS: All consecutive patients admitted to participating pediatric intensive care units during a 28-day period. MEASUREMENTS AND MAIN RESULTS: Of 2,156 patients admitted to pediatric intensive care units, 1185 (55%) received mechanical ventilation for a median of 5 days (interquartile range 2-8). Median age was 7 months (interquartile range 2-25). Main indications for mechanical ventilation were acute respiratory failure in 78% of the patients, altered mental status in 15%, and acute on chronic pulmonary disease in 6%. Median length of stay in the pediatric intensive care units was 10 days (interquartile range 6-18). Overall mortality rate in pediatric intensive care units was 13% (95% confidence interval: 11-15) for the entire population, and 39% (95% confidence interval: 23 - 58) in patients with acute respiratory distress syndrome. Of 1150 attempts at liberation from mechanical ventilation, 62% (95% confidence interval: 60-65) used the spontaneous breathing trial, and 37% (95% confidence interval: 35-40) used gradual reduction of ventilatory support. Noninvasive mechanical ventilation was used initially in 173 patients (15%, 95% confidence interval: 13-17). CONCLUSION: In the season of acute lower respiratory infections, one of every two children admitted to pediatric intensive care units requires mechanical ventilation. Acute respiratory failure was the most common reason for mechanical ventilation. The spontaneous breathing trial was the most commonly used method for liberation from mechanical ventilation. © 2012 The Society of Critical Care Medicine and the World Federation of Pediatric Intensive and Critical Care Societies. Source


Gascon Gracia S.,Hospital Materno Infantil Vall dHebron
Revista de enfermería (Barcelona, Spain) | Year: 2011

Advances in neonatology have made possible to increase the survival of preterm and/or serious diseases, but many of them suffer some consequences that can affect their behavior and development. Similarly a better understanding of central nervous system (CNS), has led to associate the negative effects that certain stimuli received from the environment can have on their development loss. All these data raise some changes to managed care to manage care of the newborn during their stay in neonatal units, and there is a new concept of care focused on development (CCD). And the creation of a new concept: caring focused on development. The CCD include a wide array of interventions that aim to minimize environmental stress is during the stay in the neonatal unit, facilitating its the adaptation to new environment. These interventions include several elements: the control of external stimuli (vestibular auditory visual and tactile), clustering of care activities, positioning and participation / integration of the family in care. Clinical practice shows that reducing or acting on certain environmental stimuli such as noise, light, smells, manipulation, pain and position, may reduce neurological sequel in premature infants, helping to better organization of their CNS through the reduction of stress behaviors. Source


Badenas C.,Biochemistry and Molecular Genetics Service | Badenas C.,University of Barcelona | Badenas C.,Institute Salud Carlos III ISCIII | Rodriguez-Revenga L.,Biochemistry and Molecular Genetics Service | And 22 more authors.
Journal of Molecular Diagnostics | Year: 2010

Quantitative fluorescent PCR (QF-PCR) has been used by many laboratories for prenatal diagnosis of the most common aneuploidies. QF-PCR is rapid, cost-effective, and suitable for automation and can detect most abnormalities diagnosed by conventional karyotyping. Whether QF-PCR should be used alone in most of the samples and in which karyotyping should also be offered is currently a topic of debate. We evaluated and compared the results obtained from 7679 prenatal samples in which conventional karyotype and QF-PCR had been performed, including 1243 chorionic villi and 6436 amniotic fluid samples. Concordant QF-PCR and karyotype results were obtained in 98.75% of the samples. An abnormal karyotype associated with adverse clinical outcome undetected by QF-PCR was found in 0.05% of samples. Therefore, QF-PCR can be used alone in a large number of samples studied in a prenatal laboratory, thereby reducing both the workload in cytogenetic laboratories and parental anxiety when awaiting results. Copyright © American Society for Investigative Pathology and the Association for Molecular Pathology. Source


Littooij A.S.,University Utrecht | Littooij A.S.,Interventional Imaging | Kwee T.C.,University Utrecht | De Keizer B.,University Utrecht | And 5 more authors.
Journal of Magnetic Resonance Imaging | Year: 2015

Background To assess the performance of whole-body MRI including diffusion-weighted imaging (whole-body MRI-DWI) for the detection of residual disease after completion of treatment in lymphoma patients. Methods Twenty-six patients with lymphoma prospectively underwent whole-body MRI-DWI (1.5 Tesla MR) and 18F-fluoro-2-deoxy-D-glucose positron emission tomography (FDG-PET)/computed tomography (CT) for posttreatment evaluation which were visually assessed. Apparent diffusion coefficient (ADC) and FDG-PET/CT standardized uptake value measurements were performed in all residual lesions. An unblinded expert panel reviewed all cases and determined the presence or absence of posttreatment residual disease using all available imaging (except for whole-body MRI-DWI), clinical, and histopathological information with a follow-up of at least 6 months. The performance of whole-body MRI-DWI was compared with this panel reference standard. Results Five of 26 patients were diagnosed with residual disease. Sensitivity and specificity for detection of residual disease with whole-body MRI-DWI were 100% and 62%, respectively. By ROC analysis, the optimal threshold of ADC was 1.21 × 10-3 mm2/s with sensitivity and specificity of 100% and 91.7%, respectively. Conclusion Our initial results suggest that visual whole-body MRI-DWI analysis has a very good sensitivity for detecting viable residual lesions after completion of therapy but lacks specificity. ADC measurements could potentially increase the specificity of whole-body MRI. © 2015 Wiley Periodicals, Inc. Source

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