Top PDF Screening for Inborn Errors of Metabolism

Screening for Inborn Errors of Metabolism

Screening for Inborn Errors of Metabolism

The irst approach to the diagnosis is by a multi-component analysis of body luids in clinically selected patients, referred to as metabolic screening tests. These include simple chemical tests in the urine, blood glucose, acid-base proile, lactate, ammonia and liver function tests. The results of these tests can help to suggest known groups of metabolic disorders so that speciic metabolites such as amino acids, organic acids, etc. can be estimated However, not all IEM needs the approach of general screening. Lysosomal, peroxisomal, thyroid and adrenal disorders are suspected mainly on clinical grounds and pertinent diagnostic tests can be performed. The inal diagnosis relies on the demonstration of the speciic enzyme defect which can be further conirmed by DNA studies [3].
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Screening for inborn errors of metabolism among newborns with metabolic disturbance and/or neurological manifestations without determined cause

Screening for inborn errors of metabolism among newborns with metabolic disturbance and/or neurological manifestations without determined cause

Regarding two other infants referred onwards, the diagnostic hypotheses were made mainly from the clinical findings. and the family history. One of them, included in the study because of presenting convulsive crises and hepatosplenomegaly, whose screening tests that were all normal, had two deceased sisters whose clinical state had included convulsions, loss of learned skills and hepatic insufficiency, for whom a diagnostic hypothesis of Alpers’ Syndrome had been proposed. The second child mentioned, the daughter of consanguineous parents, presented cyanosis, vomiting, tremor (without presenting hypoglycemia), convulsions, apnea, bradycardia, hypotonia and microcephaly. This child also had screening tests with normal results and had a family history of two deceased brothers with the same clinical condition. For this child, a diagnostic hypothesis of pyruvate dehydrogenase complex deficiency was put forward.
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Aminoacidopatias de interesse neurológico.

Aminoacidopatias de interesse neurológico.

— Abnormalities of branched chain amino acid metabolism: hypervalinemia, branched-chain ketonuria (maple syrup urine di- sease), isovaleric acidemia... — Inborn Errors of Metabolism.[r]

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Selective screening of 650 high risk Iranian patients for detection of inborn error of metabolism

Selective screening of 650 high risk Iranian patients for detection of inborn error of metabolism

A total of 92 (14%) of 520 symptomatic patients abnormal result were found in of our patients, which was lower than detection in Egyptian study, they diagnosed IEM in 22.73% of their patients (6), in another study in Karachi the detection rate was 16 out of 62 (25.8%)(9). However several other studies, two in Brazillian (7,8) and one Indian (4) reported lower detection rate 6.5%, 3.17% and 3.2% respectively .Different detection rate in different studies can be due to different criteria for selection of high risk patients and availability of local facility for diagnosis of IEM.
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Human and Medical Genetics in Brazil

Human and Medical Genetics in Brazil

Soon after the end of the Second World War, in 1945, the revelation by the press and cinema of part of the hor- rors which were committed in the Nazi concentration and extermination camps served to silence the eugenicists, but it also determined a decline of interest in studies on Hu- man Genetics. This decrease of interest lasted for many years in the universities of the civilized world. However, with the development of Biochemical Genetics at the end of the forties, it became evident that not only was it neces- sary to retake the research on inborn errors of metabolism started by Garrod in 1908, but it also became clear that there were numerous biochemical detectable genetic differences in normal people, which served to make attractive the study of genetics in human beings. It was not only the detection of human polymorphisms, but also the demonstration that they could be associated with diseases, that unleashed an avalanche of research whose objective was the knowledge of the mechanisms responsible for the maintenance of these polymorphisms and the study of the evolutive factors in Man (mutation, selection, genetic flow and genetic drift). In turn, the regrettable entering of humanity into the nuclear era, by means of the horror of the Hiroshima and Nagasaki destruc- tion, stimulated the study of genetic effects of radiation and other mutagenic agents on humans.
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Inborn errors of metabolism: a clinical overview

Inborn errors of metabolism: a clinical overview

SELECTION OF STUDIES: A selectio n o f 1 0 8 references abo ut IEM by experts in the subject was made. Clinical cases are presented with the peculiar sympto ms o f vario us diseases. DATA SYN THESIS: IEM are frequently misdiag no sed because the g eneral practitio ner, o r pediatrician in the neo natal o r intensive care units, do es no t think abo ut this diag no sis until the mo re co mmo n cause have been ruled o ut. This review includes inheritance patterns and clinical and labo rato ry finding s o f the mo re co mmo n IEM diseases within a clinical classificatio n that g ive a g eneral idea abo ut these diso rders. A summary o f treatment types fo r metabo lic inherited diseases is g iven.
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Overview of glutamine metabolism

Overview of glutamine metabolism

L-glutamine is important as a precursor for peptide and protein synthesis, amino sugar synthesis, purine and pyrimidine and thus nucleic acid and nucleotide synthesis, and also provides a source of carbons for oxida- tion in some cells. However, the immediate product of glutamine metabolism in most cells is L-glutamate, which is produced by the action of glutaminase, an enzyme found at high concentrations and associated with the mitochondria in cells which readily uti- lize glutamine. L-glutamate is the most abun- dant intracellular amino acid (reported con- centrations vary between 2 and 20 mM) and L-glutamine is the most abundant extracellu- lar amino acid in vivo (0.7 mM compared to an approximate L-glutamate concentration of 20 µM). L-glutamate cannot readily cross cell membranes because it has an overall charge of -1 at pH 7.4 and amino acid trans- porters capable of transporting glutamate into the cell are present at low density in the plasma membrane with the exception of spe- cialized glutamate-metabolizing cells located
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Representation of odometry errors on occupancy grids

Representation of odometry errors on occupancy grids

Abstract: In this work we propose an enhanced model for mapping from sonar sensors and odometry that allows a robot to represent an environment map in a more suitable way to both the sonar sensory data and odometry system of the robot. We use a stochastic modelling of the errors that brings up reliable information. As a contribution, we obtain a final map that is more coherent with the reality of the original data provided by the robotic system. Practical experiments show the results obtained with the proposed modification to be trustable in such a way that this map can be used to provide previous knowledge to the mobile robot in order to perform its tasks in an easier and accurate way. Moreover, the map can help the robot to support unexpected situations inside of the environment
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Prevalence of refractive errors in Möbius sequence

Prevalence of refractive errors in Möbius sequence

This study was carried out during the Annual Meeting of the Bra zilian Möbius Society on November 2008, in the Department of Ophthalmology of Santa Casa de Misericórdia de São Paulo Hospital. Forty-four patients diagnosed with Möbius sequence were examined by a multidisciplinary group: ophthalmology, neurology, genetics, psychiatry, psychology and dentistry

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Renal amyloidosis: classification of 102 consecutive cases

Renal amyloidosis: classification of 102 consecutive cases

All the immunohistochemistry slides were reviewed by a pathologist and a nephrologist with expertise in amyloid nephropathy. Congo red staining was performed on 6 μm thick formalin-fixed paraffin- embedded sections, and the presence of amyloid was analysed microscopically under polarized light. Immunohistochemical staining was performed on 2 μm thick formalin-fixed paraffin-embedded sections of the amyloid containing biopsies, using standard methods and a ready-to-use rabbit/mouse, peroxi- dase/diaminobenzidine (DAB) detection system (Dako Real Envision). The monoclonal antibodies used were directed against serum amiloid A (Dako), apolipo- protein A-II (Abcam) and transthyretin [provided by one of the authors (PPC)] 28 ; polyclonal antibodies were used for κ-light chain, λ-light chain, fibrinogen A -chain, transthyretin, apolipoprotein A-I and lyso- zyme (all from Dako). For light chains and fibrinogen detection, sections were treated with 10 μg/mL pro- teinase K for 10 minutes at 37°C and 10 minutes at room temperature. Blocking was done with 5% bovine serum albumin/phosphate-buffered saline (BSA/PBS). The sections were incubated with the respective antibody for 2 hours at room temperature, diluted in 1% BSA/PBS, as follows: monoclonal anti- TTR was used directly; polyclonal anti-TTR 1:500; anti-SAA 1:100; anti-kappa 1:1000; anti-lambda 1:2000; anti-Fib 1:800; Anti-Lys 1:300; anti-Apo A-I 1:400; anti-Apo A-II 1:600.
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Design And Implementation Of Smart Living Room Wireless Control For Safety Purpose

Design And Implementation Of Smart Living Room Wireless Control For Safety Purpose

This section includes the total hardware overview where in the first subsection, the connections of arduino with keypad, DC motor driver circuit, DC motor, switching circuit and serial LCD are explained. Then, after that how to communicate between the PIC and the control circuits such as fan speed control circuit, dim light control circuit, lighting ON/OFF control circuit and window angle control circuit is described. In the next sub-section, it is presented how to connectBluetooth module and android apk from mobile. The

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Landscape Builder: Software for the creation of initial landscapes for LANDIS from FIA data

Landscape Builder: Software for the creation of initial landscapes for LANDIS from FIA data

Forest landscape models (FLMs) forecast changes in tree species composition, stand structure, and tree age/size class at landscape scales based on tree species establishment, growth, competitive interactions, and disturbance from wind, fire, insects, and tree harvest (Shifley et al., 2006; Gustafson et al., 2010; Rittenhouse et al., 2010; Zhang, 2012) and climate change (Gustafson et al., 2010; Scheller and Mladenoff, 2008). LANDIS (Mladenoff and He 1999; He et al., 2002) and LANDIS II (Scheller et al., 2007) are FLMs that have been used over 40 countries and regions (Mladenoff, 2004). In a FLM, the forest landscape is divided into raster cells (polygons for some models); Site-level processes such as forest succession and competition are simulated in each cell, and forest landscape processes (e.g., seed dispersal, disturbance, and harvest) are simulated over a subset of spatially continuous cells. However, it is difficult and time consuming to populate
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Rev. LatinoAm. Enfermagem  vol.19 número2

Rev. LatinoAm. Enfermagem vol.19 número2

Although errors are detected in higher proportion (148;64.3%) in the subsystem of medication administration it is important to highlight the inluence of errors in other subsystems, such as dispensing (59;25.6%) and prescription (23;10.1%), because the errors may relect the malfunction of the medication system as a whole. It is noteworthy that often the determinant of the error is present in more than one subsystem. In analyzing the content of the records of errors classiied as errors of omission and of schedule it was identiied that they were related not only to factors intrinsic to the nursing team but also to factors associated with the distribution of medications by the pharmacy and the prescribers (inadequate illing of control forms especially for antimicrobial agents), emphasizing the importance of the systemic approach to optimize security in pharmacotherapy. These results relect the need to optimize the medication systems of hospital institutions, reviewing the subsystems, reducing steps and simplifying the processes, aiming to reduce medication errors.
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Some methods for sensitivity analysis of systems / networks

Some methods for sensitivity analysis of systems / networks

A network may considerably change with certain nodes, links, flows, or parameters. To find the most important nodes, links, or other parameters to determine network structure or performance is of significant. Sensitivity analysis is originated from systems science. It explores the relationship between parametric change and systematic output, and is used to find important parameters in the system model. In principle, the sensitivity analysis used in systems science can also be extended to network analysis in which the model output means network output, network stability, network flow, network structure, or other indices, and model input means network nodes, network links, network parameters, etc. In present article, some methods for sensitivity analysis of systems / networks are described in detail.
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STATISTICAL CHARACTERISTICS INVESTIGATION OF PREDICTION ERRORS FOR INTERFEROMETRIC SIGNAL IN THE ALGORITHM OF NONLINEAR KALMAN FILTERING

STATISTICAL CHARACTERISTICS INVESTIGATION OF PREDICTION ERRORS FOR INTERFEROMETRIC SIGNAL IN THE ALGORITHM OF NONLINEAR KALMAN FILTERING

Basic peculiarities of nonlinear Kalman filtering algorithm applied to processing of interferometric signals are considered. Analytical estimates determining statistical characteristics of signal values prediction errors were obtained and analysis of errors histograms taking into account variations of different parameters of interferometric signal was carried out. Modeling of the signal prediction procedure with known fixed parameters and variable parameters of signal in the algorithm of nonlinear Kalman filtering was performed. Numerical estimates of prediction errors for interferometric signal values were obtained by formation and analysis of the errors histograms under the influence of additive noise and random variations of amplitude and frequency of interferometric signal. Nonlinear Kalman filter is shown to provide processing of signals with randomly variable parameters, however, it does not take into account directly the linearization error of harmonic function representing interferometric signal that is a filtering error source. The main drawback of the linear prediction consists in non-Gaussian statistics of prediction errors including cases of random deviations of signal amplitude and/or frequency. When implementing stochastic filtering of interferometric signals, it is reasonable to use prediction procedures based on local statistics of a signal and its parameters taken into account.
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Arq. NeuroPsiquiatr.  vol.38 número4

Arq. NeuroPsiquiatr. vol.38 número4

Probably the most important of the interactions resulting in induced metabolism of antiepileptic drugs is the marked stimulation of carbamazepine metabolism in patients treated with ph[r]

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Formal Analysis of Soft Errors using Theorem Proving

Formal Analysis of Soft Errors using Theorem Proving

Probabilistic analysis infrastructure has been developed in HOL during the last decade. Hurd formal- ized discrete random variables having Uniform, Bernoulli, Binomial, and Geometric probability mass functions in the HOL theorem prover [10]. Audebaud et al., describe a method for proving properties of randomized algorithms in Coq proof assistant [3]. They use functional and algebraic properties of unit interval to show the validity of general rules for estimating the probabilities of randomized algorithms. However, similar to Hurd’s work, their approach can only address discrete distributions. Hasan, build- ing on Hurds work, formalized statistical properties of single and multiple discrete random variables, continuous random variables with various distributions using inverse transform method [7] and veri- fied their probabilistic and some statistical properties [8]. Harrison [6] formalized the guage integration on finite-dimensional Euclidean spaces, which is quite similar to product space of Lebesgue measures. Okazaki and Shidama [19] formalized properties of real valued random vairables in Mizar. More re- cently, Hoelzl [9] and Mhamdi [17, 18] formalized basic notions of measure, topology and lebesgue integration. These formalisms are based on extended real numbers and are thus more expressive than Hurds formalization of probability theory. However, they do not contain a specific probability space due to which they cannot be used to verify random variable functions. Since, soft error is primarily based on modeling the uncertainties by appropriate random variables so we have chosen Hurd’s formalization of measure theory for this work. To the best of our knowledge, the foremost foundations of soft error analysis of electronic circuits, such as the formalization of continuous random variable pair, its classic Cumulative Distribution Function (CDF) properties, and the formalization of Gaussian random variable pair do not exist in literature and is presented for the very first time in this paper.
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Polímeros  vol.24 número4

Polímeros vol.24 número4

The greater separation of fiber bundles (Figure 1d) and roughness (Figure 1e), as well as the lower degree of crystallinity (Table 1) of the treated fibers, led to an increase in the wettability of the fibers by the pre-polymer, further improving the fiber/matrix binding at the interface. Figures 1f, 1g and 1h show SEM images of the fractured surfaces of the composites reinforced with untreated fibers and fibers treated with 10% NaOH and ionized air for 5h, respectively. These images confirm that the adhesion at the interface was improved when the fibers were treated. The fractured surface of the other composites (figures not shown) exhibited interfaces intermediate between those shown in Figures 1f and 1g, 1h. Figure 1b shows that the impact strength of the composites increased with the dispersive component (g S
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Abstract Background: Identification of errors in anatomic pathol-

Abstract Background: Identification of errors in anatomic pathol-

The report on errors associated with medical care by the Institute of Medicine in 1999 [1], has made patient safety a priority in all organizations providing health care, and anatomic pathology (AP) laboratories are no exception. AP is a cornerstone in health care and it aims to produce a complete, precise and comprehensive diagnosis, in a brief period of time [2]. The most common types of biological samples in the AP laboratories are histological samples (biopsies and surgical resections), cytological samples (exfoliative and fine needle aspiration cytology [FNAC]) and clinical autopsies [2]. Due to the unique and irreplace- able nature of most specimens for AP examination, every effort should be made to ensure that they enable a correct and complete diagnosis [3]. According to Clinical Labora- tory Improvement Amendments (1988), AP laboratories are included in the highly complex test category, which requires strict quality control and quality assurance poli- cies and procedures [3].
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Arq. Bras. Oftalmol.  vol.74 número4

Arq. Bras. Oftalmol. vol.74 número4

Main outcomes were PCA in weeks at treatment (defined as GA + weeks of life) and the treatment outcomes. The ophthalmological examination at the first year of life included search for abnormal visual behavior, strabismus and significant ametropia. We attempted to evaluate binocular visual acuity (VA) in most of the children using Teller’s test or Kay’s pictures. Refraction was calculated by light retinoscopy under cycloplegia after 30 minutes of two drops of 1% cyclopentolate in both groups of patients with prescription of corrected lenses if there were myopia, hyperopia or astigmatism of more than 3 dioptries. The considered variables were: BW, GA, stage and location of ROP at treatment, and the one-year refractive status in both groups of patients.
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