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C Kaplan - One of the best experts on this subject based on the ideXlab platform.
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how do we treat fetal and Neonatal alloimmune Thrombocytopenia
Transfusion, 2014Co-Authors: Gerald Bertrand, C KaplanAbstract:: Fetal and Neonatal alloimmune Thrombocytopenia (FNAIT) is a potentially devastating disease, seen in one in 800 to 1000 neonates. FNAIT is the most common cause of early-onset isolated severe Neonatal Thrombocytopenia in maternity wards. The complication of this disorder most to be feared is intracranial hemorrhage, leading to death or to neurologic sequels. As there is no systematic screening of at-risk pregnancies, FNAIT is often discovered when signs of bleeding are observed during pregnancy or at delivery. Platelet transfusion is required in case of bleeding or severe Thrombocytopenia (<30 × 10(9) /L) during the 48-hour-postdelivery period. Diagnosis of alloimmunization is important for management of the index case and for subsequent pregnancies, due to the increasing severity of this syndrome as it recurs. Noninvasive antenatal therapy is based on maternal perfusion of intravenous immunoglobulins and risk stratification. In our experience, the addition of corticoids during the last trimester significantly improves the efficiency of treatment. Follow-up of antibody concentration during pregnancy may constitute a useful variable for therapy effectiveness.
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anti hpa 9bw maxa fetomaternal alloimmunization a clinically severe Neonatal Thrombocytopenia difficulties in diagnosis and therapy and report on eight families
Transfusion, 2005Co-Authors: C Kaplan, Leendert Porcelijn, Philippe Vanlieferinghen, Eric Julien, Frederic Bianchi, Corinne Martageix, Gerald Bertrand, Vincent JalluAbstract:BACKGROUND: Fetal or Neonatal alloimmune Thrombocytopenia (FMAIT) results from a maternal alloimmunization against fetal platelet (PLT) antigens. In Caucasian persons, HPA-1a is the most frequently implicated antigen. During the past few years, FMAIT has been reported associated with rare or private antigens. STUDY DESIGN AND METHODS: Since the first documented case of FMAIT due to anti-HPA-9bw (Maxa), no additional cases have been reported. Here a retrospective analysis is presented of the cases referred to our laboratories in recent years. The diagnosis was performed by genotyping and identification of the maternal alloantibody by the monoclonal antibody–specific immobilization of PLT antigens (MAIPA) technique. RESULTS: Parental genotyping showed HPA-9bw (Maxa) mismatch as the sole antigenic incompatibility in seven of eight families. Because the father was found to be HPA-9bw (Maxa) heterozygous in all the cases, the infant or fetus was genotyped to ascertain the diagnosis. The maternal alloantibody was identified in the MAIPA technique. These data strongly suggest, however, that recognition of the HPA-9bw (Maxa) epitope is not uniform. The Neonatal Thrombocytopenia was severe in most cases with bleeding. The outcome was good in all the cases but one. CONCLUSION: This analysis confirms that anti-HPA-9bw (Maxa) FMAIT is not uncommon and was found to be approximately 2 percent of our confirmed FMAIT cases. It is a clinically severe syndrome that requires prompt diagnosis, albeit difficult, and maternal PLT transfusion therapy. Laboratory investigation of a suspected FMAIT case should be carried out in a specialist laboratory well-experienced in optimal testing. Appropriate management and antenatal therapy should be considered for successive pregnancies to prevent fetal bleeding.
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clinical and diagnostic comparison of Neonatal alloimmune Thrombocytopenia to non immune cases of Thrombocytopenia
Pediatric Blood & Cancer, 2005Co-Authors: James B. Bussel, Stergios Zacharoulis, Kim Kramer, Janice G Mcfarland, Joanne Pauliny, C KaplanAbstract:BACKGROUND: Affected patients with Neonatal alloimmune Thrombocytopenia (AIT) are often severely thrombocytopenic and, if so, may suffer an intracranial hemorrhage (ICH). This study was undertaken to compare the outcome of cases of AIT to cases of Neonatal Thrombocytopenia shown not to be AIT and to identify clinical features that would facilitate the diagnosis. PROCEDURE: Two hundred twenty two cases of Neonatal Thrombocytopenia for which serologic testing was obtained by the referring physician were accrued for this study from 11 testing laboratories. The relevant clinical information was pursued. RESULTS: The mean birth platelet count in 110 neonates with AIT was 26,000/mm(3) x 10(9)/L and the rate of ICH was 11% (not all neonates had head sonos). Three criteria distinguished cases of AIT from other causes of Neonatal Thrombocytopenia (n = 56): (1) severe Thrombocytopenia 5, birthweight >2,200 g, grade >1, antenatal occurrence, or signs of bleeding, that is, petechiae, ecchymoses; and (3) no additional, non-hemorrhagic Neonatal medical problems. CONCLUSIONS: AIT is a unique type of Neonatal Thrombocytopenia with significant hemorrhagic consequences. Identification of AIT at the bedside should guide institution of appropriate treatment and lead to serologic testing for confirmation.
Myriam Vezain - One of the best experts on this subject based on the ideXlab platform.
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clinical and pathologic features of aicardi goutieres syndrome due to an ifih1 mutation a pediatric case report
American Journal of Medical Genetics Part A, 2016Co-Authors: Florent Marguet, Annie Laquerriere, Alice Goldenberg, Annemarie Guerrot, Olivier Quenez, Philippe Flahaut, Catherine Vanhulle, Clementine Dumantforest, Francoise Charbonnier, Myriam VezainAbstract:We describe the case of a young patient with calcifying encephalopathy, born to asymptomatic parents. An extensive hypothesis-driven etiological assessment was performed and failed to detect the precise etiology during many years. We therefore decided to perform whole exome sequencing of the child–unaffected parents trio. A de novo pathogenic variant in the IFIH1 gene which has recently been shown to cause autosomal dominant forms of Aicardi–Goutieres syndrome was identified. This child presented with a severe form with Neonatal Thrombocytopenia and hepatomegaly, the latter having been detected during late gestation. Although first milestones were uneventful, he progressively lost motor skills from the age of 12 months and developed severe spastic paraplegia. Brain imaging revealed white matter abnormalities and extensive calcifications. He also presented atypical skin lesions, different from chilblains. His medical history was marked by two episodes of acute pancreatitis. We provide herein the results of pathological examination including detailed description of the neuropathological hallmarks. To our knowledge, this the first detailed clinico-pathological description of a patient with an IFIH1 pathogenic variant. © 2016 Wiley Periodicals, Inc.
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clinical and pathologic features of aicardi goutieres syndrome due to an ifih1 mutation a pediatric case report
American Journal of Medical Genetics Part A, 2016Co-Authors: Florent Marguet, Annie Laquerriere, Alice Goldenberg, Annemarie Guerrot, Olivier Quenez, Philippe Flahaut, Catherine Vanhulle, Clementine Dumantforest, Francoise Charbonnier, Myriam VezainAbstract:We describe the case of a young patient with calcifying encephalopathy, born to asymptomatic parents. An extensive hypothesis-driven etiological assessment was performed and failed to detect the precise etiology during many years. We therefore decided to perform whole exome sequencing of the child-unaffected parents trio. A de novo pathogenic variant in the IFIH1 gene which has recently been shown to cause autosomal dominant forms of Aicardi-Goutieres syndrome was identified. This child presented with a severe form with Neonatal Thrombocytopenia and hepatomegaly, the latter having been detected during late gestation. Although first milestones were uneventful, he progressively lost motor skills from the age of 12 months and developed severe spastic paraplegia. Brain imaging revealed white matter abnormalities and extensive calcifications. He also presented atypical skin lesions, different from chilblains. His medical history was marked by two episodes of acute pancreatitis. We provide herein the results of pathological examination including detailed description of the neuropathological hallmarks. To our knowledge, this the first detailed clinico-pathological description of a patient with an IFIH1 pathogenic variant.
Gerald Bertrand - One of the best experts on this subject based on the ideXlab platform.
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how do we treat fetal and Neonatal alloimmune Thrombocytopenia
Transfusion, 2014Co-Authors: Gerald Bertrand, C KaplanAbstract:: Fetal and Neonatal alloimmune Thrombocytopenia (FNAIT) is a potentially devastating disease, seen in one in 800 to 1000 neonates. FNAIT is the most common cause of early-onset isolated severe Neonatal Thrombocytopenia in maternity wards. The complication of this disorder most to be feared is intracranial hemorrhage, leading to death or to neurologic sequels. As there is no systematic screening of at-risk pregnancies, FNAIT is often discovered when signs of bleeding are observed during pregnancy or at delivery. Platelet transfusion is required in case of bleeding or severe Thrombocytopenia (<30 × 10(9) /L) during the 48-hour-postdelivery period. Diagnosis of alloimmunization is important for management of the index case and for subsequent pregnancies, due to the increasing severity of this syndrome as it recurs. Noninvasive antenatal therapy is based on maternal perfusion of intravenous immunoglobulins and risk stratification. In our experience, the addition of corticoids during the last trimester significantly improves the efficiency of treatment. Follow-up of antibody concentration during pregnancy may constitute a useful variable for therapy effectiveness.
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anti hpa 9bw maxa fetomaternal alloimmunization a clinically severe Neonatal Thrombocytopenia difficulties in diagnosis and therapy and report on eight families
Transfusion, 2005Co-Authors: C Kaplan, Leendert Porcelijn, Philippe Vanlieferinghen, Eric Julien, Frederic Bianchi, Corinne Martageix, Gerald Bertrand, Vincent JalluAbstract:BACKGROUND: Fetal or Neonatal alloimmune Thrombocytopenia (FMAIT) results from a maternal alloimmunization against fetal platelet (PLT) antigens. In Caucasian persons, HPA-1a is the most frequently implicated antigen. During the past few years, FMAIT has been reported associated with rare or private antigens. STUDY DESIGN AND METHODS: Since the first documented case of FMAIT due to anti-HPA-9bw (Maxa), no additional cases have been reported. Here a retrospective analysis is presented of the cases referred to our laboratories in recent years. The diagnosis was performed by genotyping and identification of the maternal alloantibody by the monoclonal antibody–specific immobilization of PLT antigens (MAIPA) technique. RESULTS: Parental genotyping showed HPA-9bw (Maxa) mismatch as the sole antigenic incompatibility in seven of eight families. Because the father was found to be HPA-9bw (Maxa) heterozygous in all the cases, the infant or fetus was genotyped to ascertain the diagnosis. The maternal alloantibody was identified in the MAIPA technique. These data strongly suggest, however, that recognition of the HPA-9bw (Maxa) epitope is not uniform. The Neonatal Thrombocytopenia was severe in most cases with bleeding. The outcome was good in all the cases but one. CONCLUSION: This analysis confirms that anti-HPA-9bw (Maxa) FMAIT is not uncommon and was found to be approximately 2 percent of our confirmed FMAIT cases. It is a clinically severe syndrome that requires prompt diagnosis, albeit difficult, and maternal PLT transfusion therapy. Laboratory investigation of a suspected FMAIT case should be carried out in a specialist laboratory well-experienced in optimal testing. Appropriate management and antenatal therapy should be considered for successive pregnancies to prevent fetal bleeding.
Akira Sato - One of the best experts on this subject based on the ideXlab platform.
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anti hpa 5b induced Neonatal alloimmune Thrombocytopenia antibody titre as a predictor
British Journal of Haematology, 2000Co-Authors: Hitoshi Ohto, Chikako Takeuchi, Yuriko Tohyama, Tomiko Yamaguchi, Akira Sato, Shoji MoritaAbstract:Anti-HPA-5b is the most commonly found platelet-specific antibody among pregnant women, but it does not cause severe fetal–Neonatal alloimmune Thrombocytopenia in the majority of affected infants. However, as the sequelae of the affected children may become severe, it is necessary to identify the risk factors for Neonatal alloimmune Thrombocytopenia. Of 21 354 consecutive pregnant women, 138 [0·65%; 95% confidence interval (CI) 0·54–0·75%], corresponding to 13·2% of the 1049 HPA-5b− women caculated by the gene frequency, were positive for anti-HPA-5b at the first trimester. Anti-HPA-5b was titrated in specimens obtained at the third trimester and antibody-positive women and their neonates were HPA-5 genotyped. Platelet counts in cord blood and 3 d after birth were assessed in the infants born to these mothers. Chi-square analysis showed no significant relationship between the titres of maternal antibody to HPA-5b and the number of pregnancies. There was a significant difference in platelet counts at d 3 between neonates who were compatible (267 × 109/l) or incompatible (220 × 109/l, P < 0·05) with maternal anti-HPA-5b. HPA-5b antibody titres ≥ 64 were related to the development of Thrombocytopenia (< 150 × 109/l) in neonates 1 d and 3 d after birth. A high titre (≥ 64) had a positive predictive value of 50% for Thrombocytopenia 3 d after birth when the infant was HPA-5b+ and a negative predictive value of 100%. These results indicate that a high titre (≥ 64) of anti-HPA-5b is associated with a higher risk of Neonatal Thrombocytopenia, even if anti-HPA-5b-induced severe Thrombocytopenia rarely develops.
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antepartum diagnosis of fetal intracranial hemorrhage due to maternal bernard soulier syndrome
Obstetrics & Gynecology, 1999Co-Authors: Keiya Fujimori, Hitoshi Ohto, Shinya Honda, Akira SatoAbstract:Abstract Background: Bernard-Soulier syndrome, a lack of glycoprotein IB/IX, is a rare autosomal recessive bleeding disorder characterized by platelet dysfunction. Women with Bernard-Soulier syndrome are at risk of being immunized against glycoprotein IB/IX, leading to severe isoimmune Neonatal Thrombocytopenia. Case: A 26-year-old Japanese woman, gravida 1, para 0, with Bernard-Soulier syndrome presented at 35 weeks’ gestation with changes in fetal heart rate patterns and ultrasonographic findings that strongly suggested fetal intracranial hemorrhage. Management was by cesarean hysterectomy and bilateral salpingo-oophorectomy at 36 weeks, but the neonate died 6 hours after birth. Conclusion: Maternal immunization to glycoprotein IB/IX during pregnancy can cause severe fetal Thrombocytopenia and massive intracranial bleeding.
Hitoshi Ohto - One of the best experts on this subject based on the ideXlab platform.
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anti hpa 5b induced Neonatal alloimmune Thrombocytopenia antibody titre as a predictor
British Journal of Haematology, 2000Co-Authors: Hitoshi Ohto, Chikako Takeuchi, Yuriko Tohyama, Tomiko Yamaguchi, Akira Sato, Shoji MoritaAbstract:Anti-HPA-5b is the most commonly found platelet-specific antibody among pregnant women, but it does not cause severe fetal–Neonatal alloimmune Thrombocytopenia in the majority of affected infants. However, as the sequelae of the affected children may become severe, it is necessary to identify the risk factors for Neonatal alloimmune Thrombocytopenia. Of 21 354 consecutive pregnant women, 138 [0·65%; 95% confidence interval (CI) 0·54–0·75%], corresponding to 13·2% of the 1049 HPA-5b− women caculated by the gene frequency, were positive for anti-HPA-5b at the first trimester. Anti-HPA-5b was titrated in specimens obtained at the third trimester and antibody-positive women and their neonates were HPA-5 genotyped. Platelet counts in cord blood and 3 d after birth were assessed in the infants born to these mothers. Chi-square analysis showed no significant relationship between the titres of maternal antibody to HPA-5b and the number of pregnancies. There was a significant difference in platelet counts at d 3 between neonates who were compatible (267 × 109/l) or incompatible (220 × 109/l, P < 0·05) with maternal anti-HPA-5b. HPA-5b antibody titres ≥ 64 were related to the development of Thrombocytopenia (< 150 × 109/l) in neonates 1 d and 3 d after birth. A high titre (≥ 64) had a positive predictive value of 50% for Thrombocytopenia 3 d after birth when the infant was HPA-5b+ and a negative predictive value of 100%. These results indicate that a high titre (≥ 64) of anti-HPA-5b is associated with a higher risk of Neonatal Thrombocytopenia, even if anti-HPA-5b-induced severe Thrombocytopenia rarely develops.
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antepartum diagnosis of fetal intracranial hemorrhage due to maternal bernard soulier syndrome
Obstetrics & Gynecology, 1999Co-Authors: Keiya Fujimori, Hitoshi Ohto, Shinya Honda, Akira SatoAbstract:Abstract Background: Bernard-Soulier syndrome, a lack of glycoprotein IB/IX, is a rare autosomal recessive bleeding disorder characterized by platelet dysfunction. Women with Bernard-Soulier syndrome are at risk of being immunized against glycoprotein IB/IX, leading to severe isoimmune Neonatal Thrombocytopenia. Case: A 26-year-old Japanese woman, gravida 1, para 0, with Bernard-Soulier syndrome presented at 35 weeks’ gestation with changes in fetal heart rate patterns and ultrasonographic findings that strongly suggested fetal intracranial hemorrhage. Management was by cesarean hysterectomy and bilateral salpingo-oophorectomy at 36 weeks, but the neonate died 6 hours after birth. Conclusion: Maternal immunization to glycoprotein IB/IX during pregnancy can cause severe fetal Thrombocytopenia and massive intracranial bleeding.
