Journal of obstetrics and gynaecology Canada : JOGC = Journal d'obstétrique et gynécologie du Canada : JOGC, 2016
This guideline was written to update Canadian maternity care and reproductive healthcare provider... more This guideline was written to update Canadian maternity care and reproductive healthcare providers on pre- and postconceptional reproductive carrier screening for women or couples who may be at risk of being carriers for autosomal recessive (AR), autosomal dominant (AD), or X-linked (XL) conditions, with risk of transmission to the fetus. Four previous SOGC- Canadian College of Medical Geneticists (CCMG) guidelines are updated and merged into the current document. All maternity care (most responsible health provider [MRHP]) and paediatric providers; maternity nursing; nurse practitioner; provincial maternity care administrator; medical student; and postgraduate resident year 1-7. Fertile, sexually active females and their fertile, sexually active male partners who are either planning a pregnancy or are pregnant (preferably in the first trimester of pregnancy, but any gestational age is acceptable). Women and their partners will be able to obtain appropriate genetic carrier screening...
This chapter reports on the sequelae-free 8-year follow-up with normal growth, intellectual devel... more This chapter reports on the sequelae-free 8-year follow-up with normal growth, intellectual development, and schooling of a boy with argininosuccinate synthetase deficiency (citrullinemia type I) who was rescued from severe neonatal hyperammonemic coma at 8 days of life (peak ammonia level of 1,058 μmol/L). Important clinical management aspects were: rapidity of response to emergency therapeutic measures that included specific drug regimen, protein restriction, optimal caloric intake and hemodialysis, short coma duration (14 h), possible neuroprotective effect of mild systemic hypothermia during the acute episode, long-term metabolic control with strict compliance to standard of care therapeutic and dietary regimens, active prevention of subsequent hyperammonemic episodes, and early neurodevelopmental evaluations and interventions. We conclude that good long-term neurological outcome following rescue from neonatal hyperammonemic coma is rarely reported but attainable. Prospective registries and interventional studies regrouping clinical data from urea cycle disorders patients will assist clinicians in instituting the appropriate therapeutic measures to provide the best prospect of positive long-term outcome for these children.
To report the prenatal presentation with dilated cardiomyopathy of methylmalonic aciduria and hom... more To report the prenatal presentation with dilated cardiomyopathy of methylmalonic aciduria and homocystinuria, cblC type [cobalamin C (cblC) deficiency] (MIM 277400). We describe a boy with cblC deficiency who presented prenatally with fetal ultrasound findings of dilated cardiomyopathy and growth restriction. Dilated cardiomyopathy and growth retardation were detected in the third trimester of an initially uncomplicated pregnancy. Investigations were negative for chromosomal and other known causes. Growth restriction persisted but fetal heart function improved. Postnatal biochemical evaluation revealed combined methylmalonic acidemia and homocystinemia. Molecular investigations confirmed cblC deficiency. Initiation of treatment was followed by rapid clinical improvement. Prenatal dilated cardiomyopathy can be the presenting sign of cblC deficiency. Inborn errors of metabolism should be considered in the investigation of prenatally diagnosed dilated cardiomyopathy in view of the possible impact on treatment and future reproductive options, in some of these conditions.
Journal of obstetrics and gynaecology Canada : JOGC = Journal d'obstétrique et gynécologie du Canada : JOGC, 2016
This guideline was written to update Canadian maternity care and reproductive healthcare provider... more This guideline was written to update Canadian maternity care and reproductive healthcare providers on pre- and postconceptional reproductive carrier screening for women or couples who may be at risk of being carriers for autosomal recessive (AR), autosomal dominant (AD), or X-linked (XL) conditions, with risk of transmission to the fetus. Four previous SOGC- Canadian College of Medical Geneticists (CCMG) guidelines are updated and merged into the current document. All maternity care (most responsible health provider [MRHP]) and paediatric providers; maternity nursing; nurse practitioner; provincial maternity care administrator; medical student; and postgraduate resident year 1-7. Fertile, sexually active females and their fertile, sexually active male partners who are either planning a pregnancy or are pregnant (preferably in the first trimester of pregnancy, but any gestational age is acceptable). Women and their partners will be able to obtain appropriate genetic carrier screening...
Leigh Syndrome (LS) is a severe neurological disorder characterized by bilaterally symmetrical ne... more Leigh Syndrome (LS) is a severe neurological disorder characterized by bilaterally symmetrical necrotic lesions in subcortical brain regions that is commonly associated with systemic cytochrome c oxidase (COX) deficiency. COX deficiency is an autosomal recessive trait and most patients belong to a single genetic complementation group. DNA sequence analysis of the genes encoding the structural subunits of the COX complex has failed to identify a pathogenic mutation. Using microcell-mediated chromosome transfer, we mapped the gene defect in this disorder to chromosome 9q34 by complementation of the respiratory chain deficiency in patient fibroblasts. Analysis of a candidate gene (SURF1) of unknown function revealed several mutations, all of which predict a truncated protein. These data suggest a role for SURF1 in the biogenesis of the COX complex and define a new class of gene defects causing human neurodegenerative disease.
Journal of obstetrics and gynaecology Canada : JOGC = Journal d'obstétrique et gynécologie du Canada : JOGC, 2016
This guideline was written to update Canadian maternity care and reproductive healthcare provider... more This guideline was written to update Canadian maternity care and reproductive healthcare providers on pre- and postconceptional reproductive carrier screening for women or couples who may be at risk of being carriers for autosomal recessive (AR), autosomal dominant (AD), or X-linked (XL) conditions, with risk of transmission to the fetus. Four previous SOGC- Canadian College of Medical Geneticists (CCMG) guidelines are updated and merged into the current document. All maternity care (most responsible health provider [MRHP]) and paediatric providers; maternity nursing; nurse practitioner; provincial maternity care administrator; medical student; and postgraduate resident year 1-7. Fertile, sexually active females and their fertile, sexually active male partners who are either planning a pregnancy or are pregnant (preferably in the first trimester of pregnancy, but any gestational age is acceptable). Women and their partners will be able to obtain appropriate genetic carrier screening...
This chapter reports on the sequelae-free 8-year follow-up with normal growth, intellectual devel... more This chapter reports on the sequelae-free 8-year follow-up with normal growth, intellectual development, and schooling of a boy with argininosuccinate synthetase deficiency (citrullinemia type I) who was rescued from severe neonatal hyperammonemic coma at 8 days of life (peak ammonia level of 1,058 μmol/L). Important clinical management aspects were: rapidity of response to emergency therapeutic measures that included specific drug regimen, protein restriction, optimal caloric intake and hemodialysis, short coma duration (14 h), possible neuroprotective effect of mild systemic hypothermia during the acute episode, long-term metabolic control with strict compliance to standard of care therapeutic and dietary regimens, active prevention of subsequent hyperammonemic episodes, and early neurodevelopmental evaluations and interventions. We conclude that good long-term neurological outcome following rescue from neonatal hyperammonemic coma is rarely reported but attainable. Prospective registries and interventional studies regrouping clinical data from urea cycle disorders patients will assist clinicians in instituting the appropriate therapeutic measures to provide the best prospect of positive long-term outcome for these children.
To report the prenatal presentation with dilated cardiomyopathy of methylmalonic aciduria and hom... more To report the prenatal presentation with dilated cardiomyopathy of methylmalonic aciduria and homocystinuria, cblC type [cobalamin C (cblC) deficiency] (MIM 277400). We describe a boy with cblC deficiency who presented prenatally with fetal ultrasound findings of dilated cardiomyopathy and growth restriction. Dilated cardiomyopathy and growth retardation were detected in the third trimester of an initially uncomplicated pregnancy. Investigations were negative for chromosomal and other known causes. Growth restriction persisted but fetal heart function improved. Postnatal biochemical evaluation revealed combined methylmalonic acidemia and homocystinemia. Molecular investigations confirmed cblC deficiency. Initiation of treatment was followed by rapid clinical improvement. Prenatal dilated cardiomyopathy can be the presenting sign of cblC deficiency. Inborn errors of metabolism should be considered in the investigation of prenatally diagnosed dilated cardiomyopathy in view of the possible impact on treatment and future reproductive options, in some of these conditions.
Journal of obstetrics and gynaecology Canada : JOGC = Journal d'obstétrique et gynécologie du Canada : JOGC, 2016
This guideline was written to update Canadian maternity care and reproductive healthcare provider... more This guideline was written to update Canadian maternity care and reproductive healthcare providers on pre- and postconceptional reproductive carrier screening for women or couples who may be at risk of being carriers for autosomal recessive (AR), autosomal dominant (AD), or X-linked (XL) conditions, with risk of transmission to the fetus. Four previous SOGC- Canadian College of Medical Geneticists (CCMG) guidelines are updated and merged into the current document. All maternity care (most responsible health provider [MRHP]) and paediatric providers; maternity nursing; nurse practitioner; provincial maternity care administrator; medical student; and postgraduate resident year 1-7. Fertile, sexually active females and their fertile, sexually active male partners who are either planning a pregnancy or are pregnant (preferably in the first trimester of pregnancy, but any gestational age is acceptable). Women and their partners will be able to obtain appropriate genetic carrier screening...
Leigh Syndrome (LS) is a severe neurological disorder characterized by bilaterally symmetrical ne... more Leigh Syndrome (LS) is a severe neurological disorder characterized by bilaterally symmetrical necrotic lesions in subcortical brain regions that is commonly associated with systemic cytochrome c oxidase (COX) deficiency. COX deficiency is an autosomal recessive trait and most patients belong to a single genetic complementation group. DNA sequence analysis of the genes encoding the structural subunits of the COX complex has failed to identify a pathogenic mutation. Using microcell-mediated chromosome transfer, we mapped the gene defect in this disorder to chromosome 9q34 by complementation of the respiratory chain deficiency in patient fibroblasts. Analysis of a candidate gene (SURF1) of unknown function revealed several mutations, all of which predict a truncated protein. These data suggest a role for SURF1 in the biogenesis of the COX complex and define a new class of gene defects causing human neurodegenerative disease.
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