4,248 research outputs found

    TANGO2 Deficiency Disorder: Two Cases of Developmental Delay Preceding Metabolic Crisis

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    Background: TANGO2 deficiency disorder is a rare genetic disease caused by biallelic defects in TANGO2 gene. Methods: We report the clinical phenotype of two children with TANGO2 deficiency disorder. Results: Patient 1 is a female child presenting with developmental delay and microcephaly during the second year of life, who evolved with severe cognitive impairment, facial dysmorphisms, spastic paraparesis, and atonic seizures. At age 13 years, she was hospitalized due to an episode of rhabdomyolysis complicated with cardiac arrhythmia and hypothyroidism. Patient 2 is a female child with dysmorphic facial features, cleft palate, and developmental delay who was diagnosed with DiGeorge syndrome. At age three years, she presented with an acute episode of severe rhabdomyolysis in the context of human herpesvirus 6 infection. After the resolution of this acute episode, she maintained recurrent muscle weakness with axial hypotonia and progressive spasticity of the lower extremities. In both patients, diagnosis of TANGO2 deficiency disorder was only confirmed after an acute metabolic crisis. Conclusions: A high index of suspicion for TANGO2 deficiency disorder is needed in patients with developmental delay or other neurological symptoms and episodic rhabdomyolysis.info:eu-repo/semantics/publishedVersio

    Congenital Cytomegalovirus Infection in Twin Pregnancy

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    Cytomegalovirus (CMV) infection is one of the preeminent congenital viral infections, and despite its potential morbidity, uncertainty about its physiopathology, prevention and treatment remains until now. We report a case of a dichorionic and diamniotic twin pregnancy in which only one of the fetus had signs of being affected. The first twin had prenatal diagnosis of intrauterine growth restriction and hyperechogenic bowel, attributable to CMV infection, while there was no evidence of infection of the second one. Prenatal treatment was done with maternal administration of valacyclovir and postnatal treatment of the infected newborn with oral valganciclovir with normal neurodevelopment assessment at 12 months corrected age. In this case, maternal CMV infection was not equally transmitted to both fetuses, suggesting that there may be intrinsic fetal and placental factors influencing both transmission and the clinical features of the infection.info:eu-repo/semantics/publishedVersio

    Implementation of the new multichannel X-mode edge density profile reflectometer for the ICRF antenna on ASDEX Upgrade

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    A new multichannel frequency modulated continuous-wave reflectometry diagnostic has been successfully installed and commissioned on ASDEX Upgrade to measure the plasma edge electron density profile evolution in front of the Ion Cyclotron Range of Frequencies (ICRF) antenna. The design of the new three-strap ICRF antenna integrates ten pairs (sending and receiving) of microwave reflectometry antennas. The multichannel reflectometer can use three of these to measure the edge electron density profiles up to 2 x 10(19) m(-3), at different poloidal locations, allowing the direct study of the local plasma layers in front of the ICRF antenna. ICRF power coupling, operational effects, and poloidal variations of the plasma density profile can be consistently studied for the first time. In this work the diagnostic hardware architecture is described and the obtained density profile measurements were used to track outer radial plasma position and plasma shape

    The Growth Pattern of Brazilian Canela-Preta Chickens with Different Plumages Reared in Two Rearing Systems

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    ABSTRACT Growth pattern is essential for economically efficient poultry production. In this study, we aimed to describe the growth curve of chickens of the Canela-Preta breed reared in two different rearing systems, considering their different plumage colors. Initially, 204 one-day-old male and female chicks were randomly distributed in confinement and semi-confinement (102 animals in each system) without separation by gender. The animals were individually identified by wing and foot plastic brands and were weighted every seven days. The body weight and age records were used to estimate the growth curves of the following factors using the Richards model: plumage color, gender, and rearing system. The likelihood ratio test was used to verify the equality of parameters and identify nonlinear models to compare the growth patterns of the evaluated groups. The growth pattern of Canela-Preta chickens changed as a function of gender, plumage color, and rearing system. Females with black plumage, black and gold hens, and males with black and white plumage showed greater sensitivity to changes in rearing systems. Within-breed selection strategies for specific colors can improve the use of growth pattern differences, improving production efficiency. Semi-confinement is suitable for rearing Canela-Preta chickens with any plumage color, as these animals meet the free-range poultry niche market requirements

    Determination Of The Effective Anisotropy Constant Of Cofe2o4 Nanoparticles Through The T-dependence Of The Coercive Field

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    Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)We present a systematic study of the coercive field of CoFe2O4-SiO2 nanocomposites. The samples were prepared via the sol-gel method by using the Tetraethyl Orthosilicate as starting reagent. Results of X-ray diffraction, transmission electron microscopy, and X-ray fluorescence confirm the dispersion of the magnetic nanoparticles inside the silica matrix. In addition, the shift in the maximum of Zero-Field-Cooled curves observed by varying the weight ratio of CoFe2O4 nanoparticles to the precursor of silica is consistent with the increasing of average interparticle distances. Because our samples present a particle size distribution, we have used a generalized model which takes account such parameter to fit the experimental data of coercive field extracted from the magnetization curves as a function of applied field. Unlike most of the coercive field results reported in the literature for this material, the use of this model provided a successful description of the temperature dependence of the coercive field of CoFe2O4 nanoparticles in a wide temperature range. Surprisingly, we have observed the decreasing of the nanoparticles anisotropy constant in comparison to the bulk value expected for the material. We believe that this can be interpreted as due to both the migration of the Co2+ from octahedral to tetrahedral sites. (C) 2016 AIP Publishing LLC.119CAPESCNPqFAPITECCoordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq

    Doppler and birth weight Z score: predictors for adverse neonatal outcome in severe fetal compromise

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    BACKGROUND: An adequate placental perfusion is crucial for the normal growth and well being of the fetus and newborn. The blood flow through the placenta can be compromised in a variety of clinical situations, always causing important damage to the gestation. Our objective is to identify significant predictors for adverse neonatal outcome in severe fetal compromise. METHODS: Consecutive premature fetuses at between 25 and 32 weeks with severe placental insufficiency were examined prospectively. Inclusion criteria were: (i) singletons (ii) normal anatomy; (iii) abnormal umbilical artery Doppler pulsatility index (PI); (iv) abnormal cerebroplacental ratio; (v) middle cerebral artery (MCA) PI < - 2SD ("brain sparing"); (vi) last Doppler examination performed within 24 hours prior to delivery. All 46 patients that met criteria and started the study were followed to the end. We considered as independent potential predicting variables: absent or reversed end diastolic flow in umbilical artery, abnormal ductus venosus S/A ratio, absent or reversed flow during atrial contraction in the ductus venosus and birth weight Z score. Outcome parameters were: neonatal mortality and severe neonatal morbidity. RESULTS: Backward stepwise logistic regression analysis was used to determine the optimal model for the prediction of neonatal mortality and severe neonatal morbidity. In this analysis birth weight Z score index showed the strongest association OR = 1,87 [1,17-2,99] with all neonatal outcome, all other independent variables were excluded for the optimal model. There was no mortality for the group with normal birth weight Z score. CONCLUSION: Our study suggests that birth weight Z score is the strongest predictor of adverse neonatal outcome in severe placental insufficiencies. Such use of Z scores, allowing to get rid of gestational age or sex covariates could be extended to estimated fetal weight and might help in making important decisions in the management of compromised pregnancies
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