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Itzkovitz B.,Montreal Childrens Hospital Research Institute | Jiralerspong S.,Montreal Childrens Hospital Research Institute | Nimmo G.,Montreal Childrens Hospital Research Institute | Loscalzo M.,University of South Florida | And 7 more authors.
Human Mutation | Year: 2012

Rhizomelic chondrodysplasia punctata (RCDP) is a disorder of peroxisome metabolism resulting from a deficiency of plasmalogens, a specialized class of membrane phospholipids. Classically, patients have a skeletal dysplasia and profound mental retardation, although milder phenotypes are increasingly being identified. It is commonly caused by defects in the peroxisome transporter, PEX7 (RCDP1), and less frequently due to defects in the peroxisomal enzymes required to initiate plasmalogen synthesis, GNPAT (RCDP2) and AGPS (RCDP3). PEX7 transports AGPS into the peroxisome, where AGPS and GNPAT partner on the luminal membrane surface. The presence of AGPS is thought to be required for GNPAT activity. We present six additional probands with RCDP2 and RCDP3, and the novel mutations identified in them. Using cell lines from these and previously reported patients, we compared the amounts of both AGPS and GNPAT proteins present for the first time. We used protein modeling to predict the structural consequences of AGPS mutations and transcript analysis to predict consequences of GNPAT mutations, and show that milder RCDP phenotypes are likely to be associated with residual protein function. In addition, we propose that full GNPAT activity depends not only on the presence of AGPS, but also on the integrity of substrate channeling from GNPAT to AGPS. © 2011 Wiley Periodicals, Inc. Source


Werner H.,Radiologia | Werner H.,Federal University of Rio de Janeiro | Dos Santos J.R.L.,Brazilian National Institute of Technology | Dos Santos J.R.L.,Royal College of Art | And 7 more authors.
Ultrasound in Obstetrics and Gynecology | Year: 2010

Objective To generate physical fetal models using images obtained by three-dimensional ultrasonography (3DUS), magnetic resonance imaging (MRI) and computed tomography (CT) to guide additive manufacturing technology. Methods Images from 33 fetuses, including three sets of twins, were used. Fifteen fetuses were normal and evaluated only by 3DUS. Eighteen cases had abnormalities such as conjoined twins, tumors, aneuploidy, skeletal abnormalities, central nervous system abnormalities and facial or thoracic defects. Scans were performed using high-resolution 3DUS. In cases of abnormalities, MRI and CT were performed on the same day as 3DUS. The images obtained with 3DUS, CT or MRI were exported to a workstation in DICOM format. A single observer performed slice-by-slice manual segmentation using a digital high-definition screen. Software that converts medical images into numerical models was used to construct virtual 3D models, which were physically realized using additive manufacturing technologies. Results Physical models based on 3DUS, MRI and CT images either separately or combined were successfully generated. They were remarkably similar to the postnatal appearance of the aborted fetus or newborn baby, especially in cases with pathology. Conclusion The use of 3DUS, MRI and CT may improve our understanding of fetal anatomical characteristics, and these technologies can be used for educational purposes and as a method for parents to visualize their unborn baby.The images can be segmented and applied separately or combined to construct 3D virtual and physical models. © 2010 ISUOG. Published by John Wiley & Sons, Ltd. Source


Homer C.S.E.,University of Technology, Sydney | Dias M.A.B.,Instituto Fernandes Figueira Fiocruz | Ten Hoope-Bender P.,Institute Cooperacion Social Integrare | Sandall J.,Kings College London | Speciale A.M.,Autonomous University of Barcelona
The Lancet | Year: 2014

We used the Lives Saved Tool (LiST) to estimate deaths averted if midwifery was scaled up in 78 countries classified into three tertiles using the Human Development Index (HDI). We selected interventions in LiST to encompass the scope of midwifery practice, including prepregnancy, antenatal, labour, birth, and post-partum care, and family planning. Modest (10%), substantial (25%), or universal (95%) scale-up scenarios from present baseline levels were all found to reduce maternal deaths, stillbirths, and neonatal deaths by 2025 in all countries tested. With universal coverage of midwifery interventions for maternal and newborn health, excluding family planning, for the countries with the lowest HDI, 61% of all maternal, fetal, and neonatal deaths could be prevented. Family planning alone could prevent 57% of all deaths because of reduced fertility and fewer pregnancies. Midwifery with both family planning and interventions for maternal and newborn health could avert a total of 83% of all maternal deaths, stillbirths, and neonatal deaths. The inclusion of specialist care in the scenarios resulted in an increased number of deaths being prevented, meaning that midwifery care has the greatest effect when provided within a functional health system with effective referral and transfer mechanisms to specialist care. © 2014 Elsevier Ltd. Source


de Oliveira M.I.C.,Federal University of Fluminense | Hartz Z.M.A.,New University of Lisbon | do Nascimento V.C.,Federal University of Fluminense | da Silva K.S.,Instituto Fernandes Figueira Fiocruz
Revista Brasileira de Saude Materno Infantil | Year: 2012

Objectives: To evaluate the implantation of the baby-friendly hospital initiative in Rio de Janeiro. Methods: An evaluative study was carried out in 2009 at seven baby-friendly hospitals (BFHs) and eight non-accredited hospitals (NAHs) forming part of the Brazilian National Health System. Evaluation of the structure (Steps 1 and 2) was carried out by way of observation and interviews with 215 staff members. Evaluation of the process (steps 3 to 10) involved interviews with a representative sample of 461 pregnant women, 687 mothers on the wards and 148 mothers with a newborn in a neonatal unit. The degree of implantation was assessed in terms of the fulfillment of each step and the parameters covered by it. The correlation between the degree of implantation and outcomes was analyzed using linear regression: Breastfeeding (BF) in the first hour of life, exclusive breastfeeding (EBF) and the satisfaction of the women with the care provided. Results: The degree of implantation varied from 9 to 5 steps (90.6% to 70.1% of parameters) completed at the BFHs and 5 to 1 steps (76.1% to 43.9% of parameters) at the NAHs. A significant linear correlation was found between the degree of implantation, expressed in terms of steps and parameters, respectively and BF in the first hour of life (r=0.78 and r=0.74), EBF (r=0.72 and r=0.69), and satisfaction (r=0.69 and r=0.73). Conclusions: Both forms of evaluation were shown to be consistent with the results. The BFHs performed better than the NAHs and there is therefore a need for investment in the sustainability of this initiative. Source


Esteves J.S.,Federal University of Rio de Janeiro | Esteves J.S.,Federal University of Fluminense | De Sa R.A.M.,Clinica Perinatal Barra | De Sa R.A.M.,Federal University of Fluminense | And 3 more authors.
Journal of Maternal-Fetal and Neonatal Medicine | Year: 2016

Objective: The aim of this study was to identify adverse neonatal outcomes and identifies the predictors of adverse neonatal outcomes in premature rupture of membranes before 26 weeks.Methods: Data were collected between January 2005 and December 2011 from all pregnant women who presented preterm premature rupture of membranes (PPROM) between 18 and 26 complete weeks of gestation and were admitted to one of three Brazilian institutes. The adverse outcomes included mortality or the development of a severe morbidity during the length of stay in the neonatal intensive care unit (NICU). The descriptive statistics of the population were reported. A multiple logistic regression was performed for each predictor of neonatal adverse outcomes. The area under the receiver operating characteristics curves for the birth weight was calculated.Results: Composite adverse outcomes during the NICU stay occurred in 82.1% (n = 23) of the cases and included 33 (54%) neonatal deaths, 19 (67.8%) cases of retinopathy of prematurity (ROP), 13 (46.4%) cases of pulmonary hypoplasia (BPD), 8 (28.5%) cases of periventricular-intraventricular hemorrhage (PIH) and 3 (10.7%) cases of periventricular leukomalacia (PVL). Only 17.8% (n = 5) of the neonates survived without morbidity. The area under the curve for the birth weight was 0.90 (95% IC: 0.81-0.98) for the prediction of mortality.Conclusions: PPROM before 26 weeks has a high morbidity and mortality, and the significant predictors of neonatal mortality and adverse outcomes were antibiotic prophylaxis, latency period, GA at birth and birth weight. Nevertheless, the only independent significant predictor of survival rate was birth weight. © 2015 Informa UK Ltd. Source

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