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Peter H Byers - One of the best experts on this subject based on the ideXlab platform.

  • survival is affected by mutation type and molecular mechanism in vascular Ehlers Danlos Syndrome eds type iv
    Genetics in Medicine, 2014
    Co-Authors: Melanie Pepin, Ulrike Schwarze, Kenneth Rice, Mingdong Liu, Dru F Leistritz, Peter H Byers
    Abstract:

    Survival is affected by mutation type and molecular mechanism in vascular Ehlers–Danlos Syndrome (EDS type IV)

  • pregnancy related deaths and complications in women with vascular Ehlers Danlos Syndrome
    Genetics in Medicine, 2014
    Co-Authors: Mitzi L Murray, Melanie Pepin, Suzanne Peterson, Peter H Byers
    Abstract:

    The purpose of this study was to characterize the nature and magnitude of pregnancy risks in women with vascular Ehlers–Danlos Syndrome. Pregnancy-related death rate was determined by a review of pedigrees of families with vascular Ehlers–Danlos Syndrome. Maternal morbidity was characterized through semistructured interviews with women with vascular Ehlers–Danlos Syndrome or their next of kin. Pregnancy-related deaths occurred in 30 of 565 deliveries (5.3%). There was no difference in Kaplan–Meier survival curves between parous versus nulliparous women with vascular Ehlers–Danlos Syndrome. Interviews with 39 women indicated that 46% of deliveries were uncomplicated. The most common pregnancy-related complications were third-/fourth-degree lacerations (20%) and preterm delivery (19%). Life-threatening complications occurred in 14.5% of deliveries and included arterial dissection/rupture (9.2%), uterine rupture (2.6%), and surgical complications (2.6%). There were 5 maternal deaths in 76 deliveries (6.5%). The risk of pregnancy-related complications is increased in women with vascular Ehlers–Danlos Syndrome compared with the general population; however, survival data indicate that pregnancy does not appear to affect overall mortality compared with nulliparous women with vascular Ehlers–Danlos Syndrome. The data were insufficient to determine whether mode or timing of delivery influenced risk of complications. Women with vascular Ehlers–Danlos Syndrome should be engaged in a shared decision-making process when contemplating pregnancy and pregnancy management. Genet Med 16 12, 874–880.

  • survival is affected by mutation type and molecular mechanism in vascular Ehlers Danlos Syndrome eds type iv
    Genetics in Medicine, 2014
    Co-Authors: Melanie Pepin, Ulrike Schwarze, Kenneth Rice, Mingdong Liu, Dru F Leistritz, Peter H Byers
    Abstract:

    We sought to characterize the natural history of vascular Ehlers–Danlos Syndrome in individuals with heterozygous COL3A1 mutations. We reviewed clinical records for details of vascular, bowel, and organ complications in 1,231 individuals (630 index cases and 601 relatives). Missense and splice-site mutations accounted for more than 90% of the 572 alterations that we had identified in COL3A1. Median survival was 51 years but was influenced by gender (lower in men) and by the type of mutation. Although vascular Ehlers–Danlos Syndrome appears to be genetically homogeneous, allelic heterogeneity is marked, and the natural history varies with gender and type of mutation in COL3A1. These findings indicate that when counseling families, confirmation of the presence of a COL3A1 mutation and its nature can help evaluate the risks of complications. These data are also important ingredients in both the selection and allocation of individuals to appropriate arms in clinical trials to assess the effects of interventions. Genet Med 16 12, 881–888.

  • col3a1 haploinsufficiency results in a variety of Ehlers Danlos Syndrome type iv with delayed onset of complications and longer life expectancy
    Genetics in Medicine, 2011
    Co-Authors: Dru F Leistritz, Melanie Pepin, Ulrike Schwarze, Peter H Byers
    Abstract:

    Purpose:To characterize the clinical outcome of heterozygosity for COL3A1 null mutations in Ehlers-Danlos Syndrome type IV, the vascular type.Methods:We identified mutations that produced premature termination codons and resulted in nonsense-mediated messenger RNA decay in 19 families. We reviewed t

  • successful endovascular repair of acute type b aortic dissection in undiagnosed Ehlers Danlos Syndrome type iv
    European Journal of Vascular and Endovascular Surgery, 2009
    Co-Authors: Z Khalique, Ulrike Schwarze, Peter H Byers, Oliver Lyons, Rachel E Clough, Rachel Bell, J F Reidy, P R Taylor
    Abstract:

    A 61-year-old man presented with an acute type B aortic dissection for which a stent-graft was introduced. He remains complication-free 4 years onwards and has since been diagnosed with Ehlers-Danlos Syndrome type IV (EDS IV). His particular mutation is predicted to result in lesser levels of normal collagen and may explain his favourable outcome from endovascular intervention. Understanding the genotype-phenotype correlation may influence the choice of therapy offered to patients with EDS IV.

Melanie Pepin - One of the best experts on this subject based on the ideXlab platform.

  • survival is affected by mutation type and molecular mechanism in vascular Ehlers Danlos Syndrome eds type iv
    Genetics in Medicine, 2014
    Co-Authors: Melanie Pepin, Ulrike Schwarze, Kenneth Rice, Mingdong Liu, Dru F Leistritz, Peter H Byers
    Abstract:

    Survival is affected by mutation type and molecular mechanism in vascular Ehlers–Danlos Syndrome (EDS type IV)

  • pregnancy related deaths and complications in women with vascular Ehlers Danlos Syndrome
    Genetics in Medicine, 2014
    Co-Authors: Mitzi L Murray, Melanie Pepin, Suzanne Peterson, Peter H Byers
    Abstract:

    The purpose of this study was to characterize the nature and magnitude of pregnancy risks in women with vascular Ehlers–Danlos Syndrome. Pregnancy-related death rate was determined by a review of pedigrees of families with vascular Ehlers–Danlos Syndrome. Maternal morbidity was characterized through semistructured interviews with women with vascular Ehlers–Danlos Syndrome or their next of kin. Pregnancy-related deaths occurred in 30 of 565 deliveries (5.3%). There was no difference in Kaplan–Meier survival curves between parous versus nulliparous women with vascular Ehlers–Danlos Syndrome. Interviews with 39 women indicated that 46% of deliveries were uncomplicated. The most common pregnancy-related complications were third-/fourth-degree lacerations (20%) and preterm delivery (19%). Life-threatening complications occurred in 14.5% of deliveries and included arterial dissection/rupture (9.2%), uterine rupture (2.6%), and surgical complications (2.6%). There were 5 maternal deaths in 76 deliveries (6.5%). The risk of pregnancy-related complications is increased in women with vascular Ehlers–Danlos Syndrome compared with the general population; however, survival data indicate that pregnancy does not appear to affect overall mortality compared with nulliparous women with vascular Ehlers–Danlos Syndrome. The data were insufficient to determine whether mode or timing of delivery influenced risk of complications. Women with vascular Ehlers–Danlos Syndrome should be engaged in a shared decision-making process when contemplating pregnancy and pregnancy management. Genet Med 16 12, 874–880.

  • survival is affected by mutation type and molecular mechanism in vascular Ehlers Danlos Syndrome eds type iv
    Genetics in Medicine, 2014
    Co-Authors: Melanie Pepin, Ulrike Schwarze, Kenneth Rice, Mingdong Liu, Dru F Leistritz, Peter H Byers
    Abstract:

    We sought to characterize the natural history of vascular Ehlers–Danlos Syndrome in individuals with heterozygous COL3A1 mutations. We reviewed clinical records for details of vascular, bowel, and organ complications in 1,231 individuals (630 index cases and 601 relatives). Missense and splice-site mutations accounted for more than 90% of the 572 alterations that we had identified in COL3A1. Median survival was 51 years but was influenced by gender (lower in men) and by the type of mutation. Although vascular Ehlers–Danlos Syndrome appears to be genetically homogeneous, allelic heterogeneity is marked, and the natural history varies with gender and type of mutation in COL3A1. These findings indicate that when counseling families, confirmation of the presence of a COL3A1 mutation and its nature can help evaluate the risks of complications. These data are also important ingredients in both the selection and allocation of individuals to appropriate arms in clinical trials to assess the effects of interventions. Genet Med 16 12, 881–888.

  • col3a1 haploinsufficiency results in a variety of Ehlers Danlos Syndrome type iv with delayed onset of complications and longer life expectancy
    Genetics in Medicine, 2011
    Co-Authors: Dru F Leistritz, Melanie Pepin, Ulrike Schwarze, Peter H Byers
    Abstract:

    Purpose:To characterize the clinical outcome of heterozygosity for COL3A1 null mutations in Ehlers-Danlos Syndrome type IV, the vascular type.Methods:We identified mutations that produced premature termination codons and resulted in nonsense-mediated messenger RNA decay in 19 families. We reviewed t

  • spontaneous direct carotid cavernous fistula in Ehlers Danlos Syndrome type iv two case reports and a review of the literature
    Journal of Neuro-ophthalmology, 2002
    Co-Authors: Hideki Chuman, Melanie Pepin, Ulrike Schwarze, Peter H Byers, Jonathan D Trobe, Elizabeth M Petty, John P Deveikis
    Abstract:

    Two unrelated adults with Ehlers-Danlos Syndrome type IV developed acute unilateral ophthalmoplegia and ipsilateral headache as a consequence of spontaneous (nontraumatic) direct carotid-cavernous fistulas. Because the interventional radiologist suspected the diagnosis of Ehlers-Danlos Syndrome type IV, the carotid-cavernous fistulas were closed via the venous rather than the more standard arterial route in an attempt to avoid arterial dissection or rupture. In any patient presenting with a spontaneous direct carotid-cavernous fistula, family history and clinical examination should be targeted toward a diagnosis of Ehlers-Danlos Syndrome type IV because of risks attendant to angiography and repair of the fistula. For these patients, ancillary medical care must be approached cautiously to avoid hollow viscus rupture. Molecular tests can be used to confirm the diagnosis and provide family members with accurate genetic counseling and predictive genetic testing.

Ulrike Schwarze - One of the best experts on this subject based on the ideXlab platform.

  • survival is affected by mutation type and molecular mechanism in vascular Ehlers Danlos Syndrome eds type iv
    Genetics in Medicine, 2014
    Co-Authors: Melanie Pepin, Ulrike Schwarze, Kenneth Rice, Mingdong Liu, Dru F Leistritz, Peter H Byers
    Abstract:

    Survival is affected by mutation type and molecular mechanism in vascular Ehlers–Danlos Syndrome (EDS type IV)

  • survival is affected by mutation type and molecular mechanism in vascular Ehlers Danlos Syndrome eds type iv
    Genetics in Medicine, 2014
    Co-Authors: Melanie Pepin, Ulrike Schwarze, Kenneth Rice, Mingdong Liu, Dru F Leistritz, Peter H Byers
    Abstract:

    We sought to characterize the natural history of vascular Ehlers–Danlos Syndrome in individuals with heterozygous COL3A1 mutations. We reviewed clinical records for details of vascular, bowel, and organ complications in 1,231 individuals (630 index cases and 601 relatives). Missense and splice-site mutations accounted for more than 90% of the 572 alterations that we had identified in COL3A1. Median survival was 51 years but was influenced by gender (lower in men) and by the type of mutation. Although vascular Ehlers–Danlos Syndrome appears to be genetically homogeneous, allelic heterogeneity is marked, and the natural history varies with gender and type of mutation in COL3A1. These findings indicate that when counseling families, confirmation of the presence of a COL3A1 mutation and its nature can help evaluate the risks of complications. These data are also important ingredients in both the selection and allocation of individuals to appropriate arms in clinical trials to assess the effects of interventions. Genet Med 16 12, 881–888.

  • col3a1 haploinsufficiency results in a variety of Ehlers Danlos Syndrome type iv with delayed onset of complications and longer life expectancy
    Genetics in Medicine, 2011
    Co-Authors: Dru F Leistritz, Melanie Pepin, Ulrike Schwarze, Peter H Byers
    Abstract:

    Purpose:To characterize the clinical outcome of heterozygosity for COL3A1 null mutations in Ehlers-Danlos Syndrome type IV, the vascular type.Methods:We identified mutations that produced premature termination codons and resulted in nonsense-mediated messenger RNA decay in 19 families. We reviewed t

  • successful endovascular repair of acute type b aortic dissection in undiagnosed Ehlers Danlos Syndrome type iv
    European Journal of Vascular and Endovascular Surgery, 2009
    Co-Authors: Z Khalique, Ulrike Schwarze, Peter H Byers, Oliver Lyons, Rachel E Clough, Rachel Bell, J F Reidy, P R Taylor
    Abstract:

    A 61-year-old man presented with an acute type B aortic dissection for which a stent-graft was introduced. He remains complication-free 4 years onwards and has since been diagnosed with Ehlers-Danlos Syndrome type IV (EDS IV). His particular mutation is predicted to result in lesser levels of normal collagen and may explain his favourable outcome from endovascular intervention. Understanding the genotype-phenotype correlation may influence the choice of therapy offered to patients with EDS IV.

  • spontaneous direct carotid cavernous fistula in Ehlers Danlos Syndrome type iv two case reports and a review of the literature
    Journal of Neuro-ophthalmology, 2002
    Co-Authors: Hideki Chuman, Melanie Pepin, Ulrike Schwarze, Peter H Byers, Jonathan D Trobe, Elizabeth M Petty, John P Deveikis
    Abstract:

    Two unrelated adults with Ehlers-Danlos Syndrome type IV developed acute unilateral ophthalmoplegia and ipsilateral headache as a consequence of spontaneous (nontraumatic) direct carotid-cavernous fistulas. Because the interventional radiologist suspected the diagnosis of Ehlers-Danlos Syndrome type IV, the carotid-cavernous fistulas were closed via the venous rather than the more standard arterial route in an attempt to avoid arterial dissection or rupture. In any patient presenting with a spontaneous direct carotid-cavernous fistula, family history and clinical examination should be targeted toward a diagnosis of Ehlers-Danlos Syndrome type IV because of risks attendant to angiography and repair of the fistula. For these patients, ancillary medical care must be approached cautiously to avoid hollow viscus rupture. Molecular tests can be used to confirm the diagnosis and provide family members with accurate genetic counseling and predictive genetic testing.

Jonas F Ludvigsson - One of the best experts on this subject based on the ideXlab platform.

Dru F Leistritz - One of the best experts on this subject based on the ideXlab platform.