Global ETD Search

11	Anticorps types-spécifiques contre le virus du papillome humain : les femmes enceintes et le suivi de leur enfant jusqu'à deux ans Zahreddine, Monica 08 1900 (has links) No description available. Virus du papillomavirus humain Sérologie Femmes enceintes Corrélation mère-enfant Sérum Buvard Immunité acquise verticalement Dynamique des anticorps chez l’enfant Human papillomavirus Serology Pregnant women Mother-newborn correlation Dried blood spot Serum Vertically acquired immunity Antibody dynamics in children
12	Development and Validation of Quantitative PCR Assays for DNA-Based Newborn Screening of 22q11.2 Deletion Syndrome, Spinal Muscular Atrophy, Severe Combined Immunodeficiency and Congenital Cytomegalovirus Infection Theriault, Mylene A. January 2013 (has links) The development of new high throughput technologies able to multiplex disease biomarkers as well as advances in medical treatments has lead to the recent expansion of the newborn screening panel to include DNA-based targets. Four rare disorders; deletion 22q11.2 syndrome and Spinal Muscular Atrophy (SMA), Severe Combined Immunodeficiency (SCID) and Congenital Cytomegalovirus (CMV), are potential candidates for inclusion to the newborn screening panel within the next few years. The major focus of this study was to determine whether 5’-hydrolysis assays developed for the four distinct disorders with specific detection needs and analytical ranges could be combined on the OpenArray system and in multiplexed qPCR reactions. SNP detection of homozygous SMN1 deletions in SMA, CNV detection in the 22q11.2 critical region, and quantification of the SCID biomarker, T-cell receptor excision circles (TRECs) and CMV were all required for disease confirmation. SMA and 22q11.2 gene deletions were accurately detected using the OpenArray system, a first for the technology. The medium density deletion 22q11.2 multiplex successfully identified deletion carriers having either the larger 3 Mb deletion or the smaller 1.5 Mb deletions. Both TREC and CMV targets were detected but with a decrease in sensitivity when compared to their singleplex counterparts. Lastly, copy number detection of the TBX1 was performed when multiplexed with the TREC assay, without a decrease in detection limit of either assay. Here, we provide proof of principal that qPCR multiplexing technologies are amenable to implementation with a newborn screening laboratory. 22q11.2 deletion syndrome spinal muscular atrophy severe combined immunodeficiency congenital cytomegalovirus qPCR TaqMan relative quantification copy number variation T-cell receptor excision circle newborn screening OpenArray multiplex TBX1 CRKL UFD1L COMT HIRA UL54 UL55 US17 dried blood spot contiguous gene deletion SMN1 SMN2
13	Characteristics Associated with Neonatal Carnitine Levels: A Systematic Review & Clinical Database Analysis Sutherland, Sarah C. 28 January 2013 (has links) Newborn screening programs measure analyte levels in neonatal blood spots to identify individuals at high risk of disease. Carnitine and acylcarnitine levels are primary markers used in the detection of fatty acid oxidation disorders. These analytes may be influenced by certain pre/perinatal or newborn screening related factors. The primary objective of this study was to explore the association between these characteristics and levels of blood carnitines and acylcarnitines in the newborn population. The study was composed of two parts: a systematic review and a clinical database analysis of existing newborn screening data. The systematic review results suggested considerable variability across studies in the presence and directionality of associations between analyte levels and birth weight, gestational age, age at time of blood spot collection, type of sample, and storage time. Sex was not significantly associated with carnitine or acylcarnitine levels in neonatal blood. We identified a need to more fully investigate a potential interaction between gestational age and birth weight in regard to analyte levels. The secondary data analyses indicated a statistically significant relationship between analyte levels and all perinatal / infant and newborn screening related factors of interest, but effect sizes were generally small. The interaction between gestational age and birth weight was significant in all models; when further explored through graphical analysis with conditional means, extremely premature neonates stood out as having distinct analyte patterns in relation to birth weight. Variation in the ratio of total acylcarnitine to free carnitine was better accounted for by the perinatal and newborn factors than was variation in any individual carnitine or acylcarnitine, indicating that proportions of carnitine and acylcarnitines may be more important in understanding an individual’s metabolic functioning than individual analyte levels. A low proportion of variation was explained in all multivariate models, supporting the use of universal algorithms in newborn screening and suggesting the need for further large scale empirical research targeted at previously unaccounted for perinatal factors such as birth stress. newborn screening neonatal screening carnitine acylcarnitine mass screening inborn errors of metabolism lipid metabolism fatty acid oxidation fatty acid oxidation disorders free carnitine octanoylcarnitine C8 short chain acylcarnitine medium chain acylcarnitine long chain acylcarnitine birth weight gestational age sex age at collection age of collection blood spot heel prick socioeconomic status feeding breast milk formula transit time transfusion false positive Newborn Screening Ontario Ontario Newborn Screening Program database analysis systematic review
14	Characteristics Associated with Neonatal Carnitine Levels: A Systematic Review & Clinical Database Analysis Sutherland, Sarah C. 28 January 2013 (has links) Newborn screening programs measure analyte levels in neonatal blood spots to identify individuals at high risk of disease. Carnitine and acylcarnitine levels are primary markers used in the detection of fatty acid oxidation disorders. These analytes may be influenced by certain pre/perinatal or newborn screening related factors. The primary objective of this study was to explore the association between these characteristics and levels of blood carnitines and acylcarnitines in the newborn population. The study was composed of two parts: a systematic review and a clinical database analysis of existing newborn screening data. The systematic review results suggested considerable variability across studies in the presence and directionality of associations between analyte levels and birth weight, gestational age, age at time of blood spot collection, type of sample, and storage time. Sex was not significantly associated with carnitine or acylcarnitine levels in neonatal blood. We identified a need to more fully investigate a potential interaction between gestational age and birth weight in regard to analyte levels. The secondary data analyses indicated a statistically significant relationship between analyte levels and all perinatal / infant and newborn screening related factors of interest, but effect sizes were generally small. The interaction between gestational age and birth weight was significant in all models; when further explored through graphical analysis with conditional means, extremely premature neonates stood out as having distinct analyte patterns in relation to birth weight. Variation in the ratio of total acylcarnitine to free carnitine was better accounted for by the perinatal and newborn factors than was variation in any individual carnitine or acylcarnitine, indicating that proportions of carnitine and acylcarnitines may be more important in understanding an individual’s metabolic functioning than individual analyte levels. A low proportion of variation was explained in all multivariate models, supporting the use of universal algorithms in newborn screening and suggesting the need for further large scale empirical research targeted at previously unaccounted for perinatal factors such as birth stress. newborn screening neonatal screening carnitine acylcarnitine mass screening inborn errors of metabolism lipid metabolism fatty acid oxidation fatty acid oxidation disorders free carnitine octanoylcarnitine C8 short chain acylcarnitine medium chain acylcarnitine long chain acylcarnitine birth weight gestational age sex age at collection age of collection blood spot heel prick socioeconomic status feeding breast milk formula transit time transfusion false positive Newborn Screening Ontario Ontario Newborn Screening Program database analysis systematic review
15	Characteristics Associated with Neonatal Carnitine Levels: A Systematic Review & Clinical Database Analysis Sutherland, Sarah C. January 2013 (has links) Newborn screening programs measure analyte levels in neonatal blood spots to identify individuals at high risk of disease. Carnitine and acylcarnitine levels are primary markers used in the detection of fatty acid oxidation disorders. These analytes may be influenced by certain pre/perinatal or newborn screening related factors. The primary objective of this study was to explore the association between these characteristics and levels of blood carnitines and acylcarnitines in the newborn population. The study was composed of two parts: a systematic review and a clinical database analysis of existing newborn screening data. The systematic review results suggested considerable variability across studies in the presence and directionality of associations between analyte levels and birth weight, gestational age, age at time of blood spot collection, type of sample, and storage time. Sex was not significantly associated with carnitine or acylcarnitine levels in neonatal blood. We identified a need to more fully investigate a potential interaction between gestational age and birth weight in regard to analyte levels. The secondary data analyses indicated a statistically significant relationship between analyte levels and all perinatal / infant and newborn screening related factors of interest, but effect sizes were generally small. The interaction between gestational age and birth weight was significant in all models; when further explored through graphical analysis with conditional means, extremely premature neonates stood out as having distinct analyte patterns in relation to birth weight. Variation in the ratio of total acylcarnitine to free carnitine was better accounted for by the perinatal and newborn factors than was variation in any individual carnitine or acylcarnitine, indicating that proportions of carnitine and acylcarnitines may be more important in understanding an individual’s metabolic functioning than individual analyte levels. A low proportion of variation was explained in all multivariate models, supporting the use of universal algorithms in newborn screening and suggesting the need for further large scale empirical research targeted at previously unaccounted for perinatal factors such as birth stress. newborn screening neonatal screening carnitine acylcarnitine mass screening inborn errors of metabolism lipid metabolism fatty acid oxidation fatty acid oxidation disorders free carnitine octanoylcarnitine C8 short chain acylcarnitine medium chain acylcarnitine long chain acylcarnitine birth weight gestational age sex age at collection age of collection blood spot heel prick socioeconomic status feeding breast milk formula transit time transfusion false positive Newborn Screening Ontario Ontario Newborn Screening Program database analysis systematic review

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