The Experts below are selected from a list of 372 Experts worldwide ranked by ideXlab platform

Anne H Mardy - One of the best experts on this subject based on the ideXlab platform.

  • nonimmune hydrops fetalis identifying the underlying genetic etiology
    Genetics in Medicine, 2019
    Co-Authors: Teresa N Sparks, Kao Thao, Billie R Lianoglou, Kari G Bruce, Ilina Datkhaeva, Nancy T Field, Victoria M Fratto, Jennifer Jolley, Louise C Laurent, Anne H Mardy
    Abstract:

    Numerous etiologies may lead to nonimmune hydrops fetalis (NIHF), and the underlying cause often remains unclear. We aimed to determine the proportion of NIHF cases in which the etiology was clearly determined in a large, contemporary, and diverse cohort, as well as to describe the etiologies with a focus on genetic causes. Retrospective review of NIHF cases between 2015 and 2017 from the five University of California Fetal–Maternal Consortium sites. Singleton pregnancies with prenatally diagnosed NIHF were included, and cases with maternal alloimmunization were excluded. Cases were categorized as being of confirmed, suspected, or unknown etiology. Sixty-five NIHF cases were identified. Forty-six percent (30/65) remained of unknown etiology, while 9.2% (6/65) had a suspected etiology and 44.6% (29/65) were of confirmed etiology. Among confirmed cases, 11 resulted from aneuploidy; 7 from fetal structural anomalies; 2 each from fetal arrhythmia, Noonan Syndrome, and generalized lymphatic dysplasia; and 1 each from arthrogryposis, parvovirus, neonatal alloimmune thrombocytopenia, fetal goiter, and Kasabach–Merritt Syndrome. In this contemporary, multicenter study, the cause of prenatally diagnosed NIHF was confirmed in only 44% of cases, and a genetic etiology was found in only 25% of those that received standard of care genetic testing.

Gloria Pelizzo - One of the best experts on this subject based on the ideXlab platform.

  • Chemotherapy and Surgical Approach with Repeated Endovascular Embolizations: Safe Interdisciplinary Treatment for Kasabach-Merritt Syndrome in a Small Baby
    Karger Publishers, 2014
    Co-Authors: Ghassan Nakib, Valeria Calcaterra, Pietro Quaretti, Lorenzo Paolo Moramarco, Giovanni Bonalumi, Marco Brunero, Gloria Pelizzo
    Abstract:

    Introduction: Kasabach-Merritt Syndrome (KMS) is a life-threatening disease. We describe a combined medical and multistep, endovascular embolization that was successfully performed with surgery. Case Report: A 40-day-old female baby was referred because of an infiltrating pelvic mass. Blood tests showed severe anemia and thrombocytopenia with consumptive coagulopathy. The clinical aspect was pathognomonic for KMS. Administration of steroids and chemotherapy were started and coagulation parameters were normalized with tumor volume regression. Three months later, elective surgical treatment became possible, and dissection and ligature of the left internal iliac artery and sacral artery were performed. The main arterial supply of the mass was embolized with Spongostan®. Two months later, a second hybrid approach was adopted for embolization of the main vascular supply of the tumor occupying the left thigh. Via a third contralateral hybrid femoral approach and under fluoroscopy, selective catheterization of the left profunda femoris artery was performed. The arterial feeder of the tumor, localized at the left gluteus, was seen on a CT scan 2 months later and was embolized with Onyx-18. Conclusion: Chemotherapy and a tailored hybrid approach comprising repeated endovascular embolizations seem to be a safe treatment in cases of unresectable and life-threatening tumors in small babies

  • Chemotherapy and surgical approach with repeated endovascular embolizations: safe interdisciplinary treatment for Kasabach-Merritt Syndrome in a small baby
    'S. Karger AG', 2014
    Co-Authors: Ghassan Nakib, Valeria Calcaterra, Pietro Quaretti, Giovanni Bonalumi, Marco Brunero, Moramarco P. Lorenzo, Gloria Pelizzo
    Abstract:

    Kasabach-Merritt Syndrome (KMS) is a life-threatening disease. We describe a combined medical and multistep, endovascular embolization that was successfully performed with surgery. Case Report: A 40-day-old female baby was referred because of an infiltrating pelvic mass. Blood tests showed severe anemia and thrombocytopenia with consumptive coagulopathy. The clinical aspect was pathognomonic for KMS. Administration of steroids and chemotherapy were started and coagulation parameters were normalized with tumor volume regression. Three months later, elective surgical treatment became possible, and dissection and ligature of the left internal iliac artery and sacral artery were performed. The main arterial supply of the mass was embolized with Spongostan\uae. Two months later, a second hybrid approach was adopted for embolization of the main vascular supply of the tumor occupying the left thigh. Via a third contralateral hybrid femoral approach and under fluoroscopy, selective catheterization of the left profunda femoris artery was performed. The arterial feeder of the tumor, localized at the left gluteus, was seen on a CT scan 2 months later and was embolized with Onyx-18. Conclusion: Chemotherapy and a tailored hybrid approach comprising repeated endovascular embolizations seem to be a safe treatment in cases of unresectable and life-threatening tumors in small babies

Gonzalo Mariani - One of the best experts on this subject based on the ideXlab platform.

Teresa N Sparks - One of the best experts on this subject based on the ideXlab platform.

  • nonimmune hydrops fetalis identifying the underlying genetic etiology
    Genetics in Medicine, 2019
    Co-Authors: Teresa N Sparks, Kao Thao, Billie R Lianoglou, Kari G Bruce, Ilina Datkhaeva, Nancy T Field, Victoria M Fratto, Jennifer Jolley, Louise C Laurent, Anne H Mardy
    Abstract:

    Numerous etiologies may lead to nonimmune hydrops fetalis (NIHF), and the underlying cause often remains unclear. We aimed to determine the proportion of NIHF cases in which the etiology was clearly determined in a large, contemporary, and diverse cohort, as well as to describe the etiologies with a focus on genetic causes. Retrospective review of NIHF cases between 2015 and 2017 from the five University of California Fetal–Maternal Consortium sites. Singleton pregnancies with prenatally diagnosed NIHF were included, and cases with maternal alloimmunization were excluded. Cases were categorized as being of confirmed, suspected, or unknown etiology. Sixty-five NIHF cases were identified. Forty-six percent (30/65) remained of unknown etiology, while 9.2% (6/65) had a suspected etiology and 44.6% (29/65) were of confirmed etiology. Among confirmed cases, 11 resulted from aneuploidy; 7 from fetal structural anomalies; 2 each from fetal arrhythmia, Noonan Syndrome, and generalized lymphatic dysplasia; and 1 each from arthrogryposis, parvovirus, neonatal alloimmune thrombocytopenia, fetal goiter, and Kasabach–Merritt Syndrome. In this contemporary, multicenter study, the cause of prenatally diagnosed NIHF was confirmed in only 44% of cases, and a genetic etiology was found in only 25% of those that received standard of care genetic testing.

Ghassan Nakib - One of the best experts on this subject based on the ideXlab platform.

  • Chemotherapy and Surgical Approach with Repeated Endovascular Embolizations: Safe Interdisciplinary Treatment for Kasabach-Merritt Syndrome in a Small Baby
    Karger Publishers, 2014
    Co-Authors: Ghassan Nakib, Valeria Calcaterra, Pietro Quaretti, Lorenzo Paolo Moramarco, Giovanni Bonalumi, Marco Brunero, Gloria Pelizzo
    Abstract:

    Introduction: Kasabach-Merritt Syndrome (KMS) is a life-threatening disease. We describe a combined medical and multistep, endovascular embolization that was successfully performed with surgery. Case Report: A 40-day-old female baby was referred because of an infiltrating pelvic mass. Blood tests showed severe anemia and thrombocytopenia with consumptive coagulopathy. The clinical aspect was pathognomonic for KMS. Administration of steroids and chemotherapy were started and coagulation parameters were normalized with tumor volume regression. Three months later, elective surgical treatment became possible, and dissection and ligature of the left internal iliac artery and sacral artery were performed. The main arterial supply of the mass was embolized with Spongostan®. Two months later, a second hybrid approach was adopted for embolization of the main vascular supply of the tumor occupying the left thigh. Via a third contralateral hybrid femoral approach and under fluoroscopy, selective catheterization of the left profunda femoris artery was performed. The arterial feeder of the tumor, localized at the left gluteus, was seen on a CT scan 2 months later and was embolized with Onyx-18. Conclusion: Chemotherapy and a tailored hybrid approach comprising repeated endovascular embolizations seem to be a safe treatment in cases of unresectable and life-threatening tumors in small babies

  • Chemotherapy and surgical approach with repeated endovascular embolizations: safe interdisciplinary treatment for Kasabach-Merritt Syndrome in a small baby
    'S. Karger AG', 2014
    Co-Authors: Ghassan Nakib, Valeria Calcaterra, Pietro Quaretti, Giovanni Bonalumi, Marco Brunero, Moramarco P. Lorenzo, Gloria Pelizzo
    Abstract:

    Kasabach-Merritt Syndrome (KMS) is a life-threatening disease. We describe a combined medical and multistep, endovascular embolization that was successfully performed with surgery. Case Report: A 40-day-old female baby was referred because of an infiltrating pelvic mass. Blood tests showed severe anemia and thrombocytopenia with consumptive coagulopathy. The clinical aspect was pathognomonic for KMS. Administration of steroids and chemotherapy were started and coagulation parameters were normalized with tumor volume regression. Three months later, elective surgical treatment became possible, and dissection and ligature of the left internal iliac artery and sacral artery were performed. The main arterial supply of the mass was embolized with Spongostan\uae. Two months later, a second hybrid approach was adopted for embolization of the main vascular supply of the tumor occupying the left thigh. Via a third contralateral hybrid femoral approach and under fluoroscopy, selective catheterization of the left profunda femoris artery was performed. The arterial feeder of the tumor, localized at the left gluteus, was seen on a CT scan 2 months later and was embolized with Onyx-18. Conclusion: Chemotherapy and a tailored hybrid approach comprising repeated endovascular embolizations seem to be a safe treatment in cases of unresectable and life-threatening tumors in small babies