The Experts below are selected from a list of 32691 Experts worldwide ranked by ideXlab platform
Aysel Yuce - One of the best experts on this subject based on the ideXlab platform.
-
Niemann-Pick disease type C in the Newborn Period: a single-center experience
European Journal of Pediatrics, 2017Co-Authors: Ersin Gumus, Goknur Haliloglu, Asuman Nur Karhan, Hulya Demir, Figen Gurakan, Meral Topcu, Aysel YuceAbstract:Niemann-Pick disease type C (NPC) is a neurovisceral lysosomal storage disorder with a great variation in clinical spectrum and age at presentation. Clinical features of 10 NPC patients who presented in the Newborn Period between 1993 and 2015 at our center were retrospectively analyzed. Males and females were equally distributed; there was a history of parental consanguinity ( n = 8) and first-degree relative with NPC ( n = 3). Patients were symptomatic between 1 and 10 days (mean 3.6 ± 2.6 days). Age at diagnosis was between 1 and 30 days (mean 14.6 ± 13.3 days). Laboratory work-up included bone marrow aspiration ( n = 8) and/or filipin staining ( n = 4). Confirmation was done by molecular analysis, indicating NPC1 ( n = 8) and NPC2 ( n = 2) mutations. All patients had neonatal cholestasis and hepatosplenomegaly. Pulmonary involvement ( n = 9) and fetal ascites ( n = 2) were additional accompanying features. All but one died due to pulmonary complications ( n = 6) and liver insufficiency ( n = 3) between 1.5 and 36 months of age (mean 8.1 ± 10.8 months). Currently, one patient is alive at the age of 11 months without any neurological deficit. Conclusions : Neonatal presentation is a rare form of NPC with exclusively visceral involvement in the Newborn Period and poor prognosis leading to premature death due to pulmonary complications and liver failure. What is known: • Neonatal presentation is a rare form of NPC with exclusively visceral involvement in the Newborn Period and poor prognosis leading to premature death. • Progressive liver disease is the most common cause of death among neonatal-onset NPC patients. What is new: • Natural course of neonatal-onset NPC may show variations. • Pulmonary involvement should be considered as an important cause of death in neonatal-onset cases, and appropriate precautions should be taken to prevent complications of respiratory insufficiency and airway infections.
-
Niemann-Pick disease type C in the Newborn Period: a single-center experience.
European Journal of Pediatrics, 2017Co-Authors: Ersin Gumus, Goknur Haliloglu, Asuman Nur Karhan, Hulya Demir, Figen Gurakan, Meral Topcu, Aysel YuceAbstract:Niemann-Pick disease type C (NPC) is a neurovisceral lysosomal storage disorder with a great variation in clinical spectrum and age at presentation. Clinical features of 10 NPC patients who presented in the Newborn Period between 1993 and 2015 at our center were retrospectively analyzed. Males and females were equally distributed; there was a history of parental consanguinity (n = 8) and first-degree relative with NPC (n = 3). Patients were symptomatic between 1 and 10 days (mean 3.6 ± 2.6 days). Age at diagnosis was between 1 and 30 days (mean 14.6 ± 13.3 days). Laboratory work-up included bone marrow aspiration (n = 8) and/or filipin staining (n = 4). Confirmation was done by molecular analysis, indicating NPC1 (n = 8) and NPC2 (n = 2) mutations. All patients had neonatal cholestasis and hepatosplenomegaly. Pulmonary involvement (n = 9) and fetal ascites (n = 2) were additional accompanying features. All but one died due to pulmonary complications (n = 6) and liver insufficiency (n = 3) between 1.5 and 36 months of age (mean 8.1 ± 10.8 months). Currently, one patient is alive at the age of 11 months without any neurological deficit. Conclusions: Neonatal presentation is a rare form of NPC with exclusively visceral involvement in the Newborn Period and poor prognosis leading to premature death due to pulmonary complications and liver failure.
Ersin Gumus - One of the best experts on this subject based on the ideXlab platform.
-
Niemann-Pick disease type C in the Newborn Period: a single-center experience
European Journal of Pediatrics, 2017Co-Authors: Ersin Gumus, Goknur Haliloglu, Asuman Nur Karhan, Hulya Demir, Figen Gurakan, Meral Topcu, Aysel YuceAbstract:Niemann-Pick disease type C (NPC) is a neurovisceral lysosomal storage disorder with a great variation in clinical spectrum and age at presentation. Clinical features of 10 NPC patients who presented in the Newborn Period between 1993 and 2015 at our center were retrospectively analyzed. Males and females were equally distributed; there was a history of parental consanguinity ( n = 8) and first-degree relative with NPC ( n = 3). Patients were symptomatic between 1 and 10 days (mean 3.6 ± 2.6 days). Age at diagnosis was between 1 and 30 days (mean 14.6 ± 13.3 days). Laboratory work-up included bone marrow aspiration ( n = 8) and/or filipin staining ( n = 4). Confirmation was done by molecular analysis, indicating NPC1 ( n = 8) and NPC2 ( n = 2) mutations. All patients had neonatal cholestasis and hepatosplenomegaly. Pulmonary involvement ( n = 9) and fetal ascites ( n = 2) were additional accompanying features. All but one died due to pulmonary complications ( n = 6) and liver insufficiency ( n = 3) between 1.5 and 36 months of age (mean 8.1 ± 10.8 months). Currently, one patient is alive at the age of 11 months without any neurological deficit. Conclusions : Neonatal presentation is a rare form of NPC with exclusively visceral involvement in the Newborn Period and poor prognosis leading to premature death due to pulmonary complications and liver failure. What is known: • Neonatal presentation is a rare form of NPC with exclusively visceral involvement in the Newborn Period and poor prognosis leading to premature death. • Progressive liver disease is the most common cause of death among neonatal-onset NPC patients. What is new: • Natural course of neonatal-onset NPC may show variations. • Pulmonary involvement should be considered as an important cause of death in neonatal-onset cases, and appropriate precautions should be taken to prevent complications of respiratory insufficiency and airway infections.
-
Niemann-Pick disease type C in the Newborn Period: a single-center experience.
European Journal of Pediatrics, 2017Co-Authors: Ersin Gumus, Goknur Haliloglu, Asuman Nur Karhan, Hulya Demir, Figen Gurakan, Meral Topcu, Aysel YuceAbstract:Niemann-Pick disease type C (NPC) is a neurovisceral lysosomal storage disorder with a great variation in clinical spectrum and age at presentation. Clinical features of 10 NPC patients who presented in the Newborn Period between 1993 and 2015 at our center were retrospectively analyzed. Males and females were equally distributed; there was a history of parental consanguinity (n = 8) and first-degree relative with NPC (n = 3). Patients were symptomatic between 1 and 10 days (mean 3.6 ± 2.6 days). Age at diagnosis was between 1 and 30 days (mean 14.6 ± 13.3 days). Laboratory work-up included bone marrow aspiration (n = 8) and/or filipin staining (n = 4). Confirmation was done by molecular analysis, indicating NPC1 (n = 8) and NPC2 (n = 2) mutations. All patients had neonatal cholestasis and hepatosplenomegaly. Pulmonary involvement (n = 9) and fetal ascites (n = 2) were additional accompanying features. All but one died due to pulmonary complications (n = 6) and liver insufficiency (n = 3) between 1.5 and 36 months of age (mean 8.1 ± 10.8 months). Currently, one patient is alive at the age of 11 months without any neurological deficit. Conclusions: Neonatal presentation is a rare form of NPC with exclusively visceral involvement in the Newborn Period and poor prognosis leading to premature death due to pulmonary complications and liver failure.
Susan W. Aucott - One of the best experts on this subject based on the ideXlab platform.
-
Prenatal ABO/RHD Genotyping: A New Paradigm to Allow for Fresh Whole Blood for Cardiopulmonary Bypass in the Immediate Newborn Period.
Fetal Diagnosis and Therapy, 2018Co-Authors: Juliet Chhay Bishop, Karin Blakemore, Luca A. Vricella, Priya Sekar, Katelynn G. Sagaser, Jude P. Crino, Paul M. Ness, Benjamin K. Kogutt, Joan S. Boyd, Susan W. AucottAbstract:Compared to standard component therapy, fresh whole blood (FWB) offers potential benefits to neonates undergoing cardiopulmonary bypass (CPB) in the context of open cardiac surgery: decreased blood loss and subsequent risk of volume overload, improved coagulation status, higher platelet counts during and following CPB, circumvention of limited vascular access, and significantly reduced donor exposures. Obtaining FWB, however, entails 2-5 days of preparation, which often precludes its availability for neonates requiring CPB in the immediate Newborn Period. Using a multidisciplinary approach and molecular ABO/RHD genotyping on amniotic fluid, we developed a protocol to allow procurement of FWB for timed delivery followed by open cardiac surgery. Eligible subjects include patients undergoing genetic amniocentesis following the diagnosis of a fetal cardiac anomaly likely to require open surgical repair in the initial days after birth. This protocol has been successfully implemented following prenatal diagnosis of severe fetal cardiac anomalies. Taking advantage of the prenatal time Period and the ability to perform fetal blood typing prenatally using molecular genotyping makes possible a new paradigm for the availability of FWB for CPB to improve perioperative, short-term, and long-term outcomes in a population comprised of some of the smallest and sickest patients who will undergo CPB.
-
prenatal abo rhd genotyping a new paradigm to allow for fresh whole blood for cardiopulmonary bypass in the immediate Newborn Period
Fetal Diagnosis and Therapy, 2018Co-Authors: Juliet Chhay Bishop, Karin Blakemore, Luca A. Vricella, Priya Sekar, Katelynn G. Sagaser, Jude P. Crino, Paul M. Ness, Benjamin K. Kogutt, Joan S. Boyd, Susan W. AucottAbstract:Compared to standard component therapy, fresh whole blood (FWB) offers potential benefits to neonates undergoing cardiopulmonary bypass (CPB) in the context of open cardiac surgery: decreased blood loss and subsequent risk of volume overload, improved coagulation status, higher platelet counts during and following CPB, circumvention of limited vascular access, and significantly reduced donor exposures. Obtaining FWB, however, entails 2-5 days of preparation, which often precludes its availability for neonates requiring CPB in the immediate Newborn Period. Using a multidisciplinary approach and molecular ABO/RHD genotyping on amniotic fluid, we developed a protocol to allow procurement of FWB for timed delivery followed by open cardiac surgery. Eligible subjects include patients undergoing genetic amniocentesis following the diagnosis of a fetal cardiac anomaly likely to require open surgical repair in the initial days after birth. This protocol has been successfully implemented following prenatal diagnosis of severe fetal cardiac anomalies. Taking advantage of the prenatal time Period and the ability to perform fetal blood typing prenatally using molecular genotyping makes possible a new paradigm for the availability of FWB for CPB to improve perioperative, short-term, and long-term outcomes in a population comprised of some of the smallest and sickest patients who will undergo CPB.
Asuman Nur Karhan - One of the best experts on this subject based on the ideXlab platform.
-
Niemann-Pick disease type C in the Newborn Period: a single-center experience
European Journal of Pediatrics, 2017Co-Authors: Ersin Gumus, Goknur Haliloglu, Asuman Nur Karhan, Hulya Demir, Figen Gurakan, Meral Topcu, Aysel YuceAbstract:Niemann-Pick disease type C (NPC) is a neurovisceral lysosomal storage disorder with a great variation in clinical spectrum and age at presentation. Clinical features of 10 NPC patients who presented in the Newborn Period between 1993 and 2015 at our center were retrospectively analyzed. Males and females were equally distributed; there was a history of parental consanguinity ( n = 8) and first-degree relative with NPC ( n = 3). Patients were symptomatic between 1 and 10 days (mean 3.6 ± 2.6 days). Age at diagnosis was between 1 and 30 days (mean 14.6 ± 13.3 days). Laboratory work-up included bone marrow aspiration ( n = 8) and/or filipin staining ( n = 4). Confirmation was done by molecular analysis, indicating NPC1 ( n = 8) and NPC2 ( n = 2) mutations. All patients had neonatal cholestasis and hepatosplenomegaly. Pulmonary involvement ( n = 9) and fetal ascites ( n = 2) were additional accompanying features. All but one died due to pulmonary complications ( n = 6) and liver insufficiency ( n = 3) between 1.5 and 36 months of age (mean 8.1 ± 10.8 months). Currently, one patient is alive at the age of 11 months without any neurological deficit. Conclusions : Neonatal presentation is a rare form of NPC with exclusively visceral involvement in the Newborn Period and poor prognosis leading to premature death due to pulmonary complications and liver failure. What is known: • Neonatal presentation is a rare form of NPC with exclusively visceral involvement in the Newborn Period and poor prognosis leading to premature death. • Progressive liver disease is the most common cause of death among neonatal-onset NPC patients. What is new: • Natural course of neonatal-onset NPC may show variations. • Pulmonary involvement should be considered as an important cause of death in neonatal-onset cases, and appropriate precautions should be taken to prevent complications of respiratory insufficiency and airway infections.
-
Niemann-Pick disease type C in the Newborn Period: a single-center experience.
European Journal of Pediatrics, 2017Co-Authors: Ersin Gumus, Goknur Haliloglu, Asuman Nur Karhan, Hulya Demir, Figen Gurakan, Meral Topcu, Aysel YuceAbstract:Niemann-Pick disease type C (NPC) is a neurovisceral lysosomal storage disorder with a great variation in clinical spectrum and age at presentation. Clinical features of 10 NPC patients who presented in the Newborn Period between 1993 and 2015 at our center were retrospectively analyzed. Males and females were equally distributed; there was a history of parental consanguinity (n = 8) and first-degree relative with NPC (n = 3). Patients were symptomatic between 1 and 10 days (mean 3.6 ± 2.6 days). Age at diagnosis was between 1 and 30 days (mean 14.6 ± 13.3 days). Laboratory work-up included bone marrow aspiration (n = 8) and/or filipin staining (n = 4). Confirmation was done by molecular analysis, indicating NPC1 (n = 8) and NPC2 (n = 2) mutations. All patients had neonatal cholestasis and hepatosplenomegaly. Pulmonary involvement (n = 9) and fetal ascites (n = 2) were additional accompanying features. All but one died due to pulmonary complications (n = 6) and liver insufficiency (n = 3) between 1.5 and 36 months of age (mean 8.1 ± 10.8 months). Currently, one patient is alive at the age of 11 months without any neurological deficit. Conclusions: Neonatal presentation is a rare form of NPC with exclusively visceral involvement in the Newborn Period and poor prognosis leading to premature death due to pulmonary complications and liver failure.
Hulya Demir - One of the best experts on this subject based on the ideXlab platform.
-
Niemann-Pick disease type C in the Newborn Period: a single-center experience
European Journal of Pediatrics, 2017Co-Authors: Ersin Gumus, Goknur Haliloglu, Asuman Nur Karhan, Hulya Demir, Figen Gurakan, Meral Topcu, Aysel YuceAbstract:Niemann-Pick disease type C (NPC) is a neurovisceral lysosomal storage disorder with a great variation in clinical spectrum and age at presentation. Clinical features of 10 NPC patients who presented in the Newborn Period between 1993 and 2015 at our center were retrospectively analyzed. Males and females were equally distributed; there was a history of parental consanguinity ( n = 8) and first-degree relative with NPC ( n = 3). Patients were symptomatic between 1 and 10 days (mean 3.6 ± 2.6 days). Age at diagnosis was between 1 and 30 days (mean 14.6 ± 13.3 days). Laboratory work-up included bone marrow aspiration ( n = 8) and/or filipin staining ( n = 4). Confirmation was done by molecular analysis, indicating NPC1 ( n = 8) and NPC2 ( n = 2) mutations. All patients had neonatal cholestasis and hepatosplenomegaly. Pulmonary involvement ( n = 9) and fetal ascites ( n = 2) were additional accompanying features. All but one died due to pulmonary complications ( n = 6) and liver insufficiency ( n = 3) between 1.5 and 36 months of age (mean 8.1 ± 10.8 months). Currently, one patient is alive at the age of 11 months without any neurological deficit. Conclusions : Neonatal presentation is a rare form of NPC with exclusively visceral involvement in the Newborn Period and poor prognosis leading to premature death due to pulmonary complications and liver failure. What is known: • Neonatal presentation is a rare form of NPC with exclusively visceral involvement in the Newborn Period and poor prognosis leading to premature death. • Progressive liver disease is the most common cause of death among neonatal-onset NPC patients. What is new: • Natural course of neonatal-onset NPC may show variations. • Pulmonary involvement should be considered as an important cause of death in neonatal-onset cases, and appropriate precautions should be taken to prevent complications of respiratory insufficiency and airway infections.
-
Niemann-Pick disease type C in the Newborn Period: a single-center experience.
European Journal of Pediatrics, 2017Co-Authors: Ersin Gumus, Goknur Haliloglu, Asuman Nur Karhan, Hulya Demir, Figen Gurakan, Meral Topcu, Aysel YuceAbstract:Niemann-Pick disease type C (NPC) is a neurovisceral lysosomal storage disorder with a great variation in clinical spectrum and age at presentation. Clinical features of 10 NPC patients who presented in the Newborn Period between 1993 and 2015 at our center were retrospectively analyzed. Males and females were equally distributed; there was a history of parental consanguinity (n = 8) and first-degree relative with NPC (n = 3). Patients were symptomatic between 1 and 10 days (mean 3.6 ± 2.6 days). Age at diagnosis was between 1 and 30 days (mean 14.6 ± 13.3 days). Laboratory work-up included bone marrow aspiration (n = 8) and/or filipin staining (n = 4). Confirmation was done by molecular analysis, indicating NPC1 (n = 8) and NPC2 (n = 2) mutations. All patients had neonatal cholestasis and hepatosplenomegaly. Pulmonary involvement (n = 9) and fetal ascites (n = 2) were additional accompanying features. All but one died due to pulmonary complications (n = 6) and liver insufficiency (n = 3) between 1.5 and 36 months of age (mean 8.1 ± 10.8 months). Currently, one patient is alive at the age of 11 months without any neurological deficit. Conclusions: Neonatal presentation is a rare form of NPC with exclusively visceral involvement in the Newborn Period and poor prognosis leading to premature death due to pulmonary complications and liver failure.
