The Experts below are selected from a list of 666 Experts worldwide ranked by ideXlab platform

Elvira Grandone - One of the best experts on this subject based on the ideXlab platform.

  • The curious incident of a cavum velum interpositum cyst in twins of a mother carrying May-Hegglin Anomaly: a case report and short literature review.
    BMC pregnancy and childbirth, 2020
    Co-Authors: Giulio Giordano, Giovanni L Tiscia, Giovanni Favuzzi, Elena Chinni, Mariano Intrieri, Mario Mastroianno, Letizia Di Meglio, Maurizio Margaglione, Elvira Grandone
    Abstract:

    May-Hegglin Anomaly is an autosomal dominant inherited condition, characterized by thrombocytopenia, giant platelets and Dohle-like bodies. Incidence is unknown and affected individuals can show from mild to moderate-severe haemorrhagic symptoms. The cyst of cavum veli interpositi (a virtual space filled with fluid within the third ventricle) is rarely reported in the foetal period. Furthermore, it is unclear whether isolated cavum veli interpositi cysts are a normal variant or developmental malformations. The simultaneous presence of these two anomalies was never described. We describe a very rare case of a twin monochorionic pregnancy in a woman with the May-Hegglin Anomaly, whose foetuses carried cavum veli interpositi cysts. Since childhood, our patient had shown macro-thrombocytopenia, deafness and bleeding (epistaxis and menorrhagia), but she was misdiagnosed until the age of 30 years when our Centre identified a de novo allelic variant in the gene MYH9 coding for the non-muscle myosin heavy chain IIa. Our patient bled neither during the pregnancy, nor in the peripartum period. Children are now eight-months-old and have never bled, although both inherited the MYH9 variant and have thrombocytopenia with giant platelets. Furthermore, none of them developed psychomotor disorders. To the best of our knowledge, this is the sixth case of twin pregnancy in a woman carrying May-Hegglin Anomaly and the first one with cavum veli interpositi cysts in the neonates. We speculate that MYH9 could have, at least in part, played a role in the development of both conditions, as this gene has a pleiotropic effect.

  • the curious incident of a cavum velum interpositum cyst in twins of a mother carrying May Hegglin Anomaly a case report and short literature review
    BMC Pregnancy and Childbirth, 2020
    Co-Authors: Giulio Giordano, Giovanni L Tiscia, Giovanni Favuzzi, Elena Chinni, Mariano Intrieri, Mario Mastroianno, Letizia Di Meglio, Maurizio Margaglione, Elvira Grandone
    Abstract:

    BACKGROUND May-Hegglin Anomaly is an autosomal dominant inherited condition, characterized by thrombocytopenia, giant platelets and Dohle-like bodies. Incidence is unknown and affected individuals can show from mild to moderate-severe haemorrhagic symptoms. The cyst of cavum veli interpositi (a virtual space filled with fluid within the third ventricle) is rarely reported in the foetal period. Furthermore, it is unclear whether isolated cavum veli interpositi cysts are a normal variant or developmental malformations. The simultaneous presence of these two anomalies was never described. CASE PRESENTATION We describe a very rare case of a twin monochorionic pregnancy in a woman with the May-Hegglin Anomaly, whose foetuses carried cavum veli interpositi cysts. Since childhood, our patient had shown macro-thrombocytopenia, deafness and bleeding (epistaxis and menorrhagia), but she was misdiagnosed until the age of 30 years when our Centre identified a de novo allelic variant in the gene MYH9 coding for the non-muscle myosin heavy chain IIa. Our patient bled neither during the pregnancy, nor in the peripartum period. Children are now eight-months-old and have never bled, although both inherited the MYH9 variant and have thrombocytopenia with giant platelets. Furthermore, none of them developed psychomotor disorders. CONCLUSIONS To the best of our knowledge, this is the sixth case of twin pregnancy in a woman carrying May-Hegglin Anomaly and the first one with cavum veli interpositi cysts in the neonates. We speculate that MYH9 could have, at least in part, played a role in the development of both conditions, as this gene has a pleiotropic effect.

K. Stevens - One of the best experts on this subject based on the ideXlab platform.

  • Coincidental finding of May-Hegglin Anomaly in a patient with end-stage renal failure.
    American Journal of Hematology, 1992
    Co-Authors: B. W.j. Van Rensburg, C. D. Potgieter, Lizette Du Plessis, K. Stevens
    Abstract:

    We present two cases of May-Hegglin Anomaly incidentally discovered in a patient and his brother during investigation of the patient for end-stage renal failure and workup for renal transplantation. Routine laboratory tests were performed and included a basically normal clotting profile. Ultrastructural studies of the May-Hegglin inclusions proved diagnostic, findings were compared with those of two similar granulocyte inclusion bodies, and nomenclature discrepancies that still exist in most references are again emphasized. The finding of the May-Hegglin Anomaly in our patient appears to be incidental to the underlying renal disease. A successful renal transplant has been carried out in this patient. We now report on a patient and his brother in which the MHA was discovered during workup of the patient for end-stage renal failure and renal transplantation. No association between the underlying renal disease and the MHA could be demonstrated. © 1992 Wiley-Liss, Inc.

  • Coincidental finding of May-Hegglin Anomaly in a patient with end-stage renal failure.
    American journal of hematology, 1992
    Co-Authors: N. Nel, C. D. Potgieter, Lizette Du Plessis, B. W.j. Van Rensburg, K. Stevens
    Abstract:

    We present two cases of May-Hegglin Anomaly incidentally discovered in a patient and his brother during investigation of the patient for end-stage renal failure and workup for renal transplantation. Routine laboratory tests were performed and included a basically normal clotting profile. Ultrastructural studies of the May-Hegglin inclusions proved diagnostic, findings were compared with those of two similar granulocyte inclusion bodies, and nomenclature discrepancies that still exist in most references are again emphasized. The finding of the May-Hegglin Anomaly in our patient appears to be incidental to the underlying renal disease. A successful renal transplant has been carried out in this patient. We now report on a patient and his brother in which the MHA was discovered during workup of the patient for end-stage renal failure and renal transplantation. No association between the underlying renal disease and the MHA could be demonstrated.

Giulio Giordano - One of the best experts on this subject based on the ideXlab platform.

  • The curious incident of a cavum velum interpositum cyst in twins of a mother carrying May-Hegglin Anomaly: a case report and short literature review.
    BMC pregnancy and childbirth, 2020
    Co-Authors: Giulio Giordano, Giovanni L Tiscia, Giovanni Favuzzi, Elena Chinni, Mariano Intrieri, Mario Mastroianno, Letizia Di Meglio, Maurizio Margaglione, Elvira Grandone
    Abstract:

    May-Hegglin Anomaly is an autosomal dominant inherited condition, characterized by thrombocytopenia, giant platelets and Dohle-like bodies. Incidence is unknown and affected individuals can show from mild to moderate-severe haemorrhagic symptoms. The cyst of cavum veli interpositi (a virtual space filled with fluid within the third ventricle) is rarely reported in the foetal period. Furthermore, it is unclear whether isolated cavum veli interpositi cysts are a normal variant or developmental malformations. The simultaneous presence of these two anomalies was never described. We describe a very rare case of a twin monochorionic pregnancy in a woman with the May-Hegglin Anomaly, whose foetuses carried cavum veli interpositi cysts. Since childhood, our patient had shown macro-thrombocytopenia, deafness and bleeding (epistaxis and menorrhagia), but she was misdiagnosed until the age of 30 years when our Centre identified a de novo allelic variant in the gene MYH9 coding for the non-muscle myosin heavy chain IIa. Our patient bled neither during the pregnancy, nor in the peripartum period. Children are now eight-months-old and have never bled, although both inherited the MYH9 variant and have thrombocytopenia with giant platelets. Furthermore, none of them developed psychomotor disorders. To the best of our knowledge, this is the sixth case of twin pregnancy in a woman carrying May-Hegglin Anomaly and the first one with cavum veli interpositi cysts in the neonates. We speculate that MYH9 could have, at least in part, played a role in the development of both conditions, as this gene has a pleiotropic effect.

  • the curious incident of a cavum velum interpositum cyst in twins of a mother carrying May Hegglin Anomaly a case report and short literature review
    BMC Pregnancy and Childbirth, 2020
    Co-Authors: Giulio Giordano, Giovanni L Tiscia, Giovanni Favuzzi, Elena Chinni, Mariano Intrieri, Mario Mastroianno, Letizia Di Meglio, Maurizio Margaglione, Elvira Grandone
    Abstract:

    BACKGROUND May-Hegglin Anomaly is an autosomal dominant inherited condition, characterized by thrombocytopenia, giant platelets and Dohle-like bodies. Incidence is unknown and affected individuals can show from mild to moderate-severe haemorrhagic symptoms. The cyst of cavum veli interpositi (a virtual space filled with fluid within the third ventricle) is rarely reported in the foetal period. Furthermore, it is unclear whether isolated cavum veli interpositi cysts are a normal variant or developmental malformations. The simultaneous presence of these two anomalies was never described. CASE PRESENTATION We describe a very rare case of a twin monochorionic pregnancy in a woman with the May-Hegglin Anomaly, whose foetuses carried cavum veli interpositi cysts. Since childhood, our patient had shown macro-thrombocytopenia, deafness and bleeding (epistaxis and menorrhagia), but she was misdiagnosed until the age of 30 years when our Centre identified a de novo allelic variant in the gene MYH9 coding for the non-muscle myosin heavy chain IIa. Our patient bled neither during the pregnancy, nor in the peripartum period. Children are now eight-months-old and have never bled, although both inherited the MYH9 variant and have thrombocytopenia with giant platelets. Furthermore, none of them developed psychomotor disorders. CONCLUSIONS To the best of our knowledge, this is the sixth case of twin pregnancy in a woman carrying May-Hegglin Anomaly and the first one with cavum veli interpositi cysts in the neonates. We speculate that MYH9 could have, at least in part, played a role in the development of both conditions, as this gene has a pleiotropic effect.

Maurizio Margaglione - One of the best experts on this subject based on the ideXlab platform.

  • The curious incident of a cavum velum interpositum cyst in twins of a mother carrying May-Hegglin Anomaly: a case report and short literature review.
    BMC pregnancy and childbirth, 2020
    Co-Authors: Giulio Giordano, Giovanni L Tiscia, Giovanni Favuzzi, Elena Chinni, Mariano Intrieri, Mario Mastroianno, Letizia Di Meglio, Maurizio Margaglione, Elvira Grandone
    Abstract:

    May-Hegglin Anomaly is an autosomal dominant inherited condition, characterized by thrombocytopenia, giant platelets and Dohle-like bodies. Incidence is unknown and affected individuals can show from mild to moderate-severe haemorrhagic symptoms. The cyst of cavum veli interpositi (a virtual space filled with fluid within the third ventricle) is rarely reported in the foetal period. Furthermore, it is unclear whether isolated cavum veli interpositi cysts are a normal variant or developmental malformations. The simultaneous presence of these two anomalies was never described. We describe a very rare case of a twin monochorionic pregnancy in a woman with the May-Hegglin Anomaly, whose foetuses carried cavum veli interpositi cysts. Since childhood, our patient had shown macro-thrombocytopenia, deafness and bleeding (epistaxis and menorrhagia), but she was misdiagnosed until the age of 30 years when our Centre identified a de novo allelic variant in the gene MYH9 coding for the non-muscle myosin heavy chain IIa. Our patient bled neither during the pregnancy, nor in the peripartum period. Children are now eight-months-old and have never bled, although both inherited the MYH9 variant and have thrombocytopenia with giant platelets. Furthermore, none of them developed psychomotor disorders. To the best of our knowledge, this is the sixth case of twin pregnancy in a woman carrying May-Hegglin Anomaly and the first one with cavum veli interpositi cysts in the neonates. We speculate that MYH9 could have, at least in part, played a role in the development of both conditions, as this gene has a pleiotropic effect.

  • the curious incident of a cavum velum interpositum cyst in twins of a mother carrying May Hegglin Anomaly a case report and short literature review
    BMC Pregnancy and Childbirth, 2020
    Co-Authors: Giulio Giordano, Giovanni L Tiscia, Giovanni Favuzzi, Elena Chinni, Mariano Intrieri, Mario Mastroianno, Letizia Di Meglio, Maurizio Margaglione, Elvira Grandone
    Abstract:

    BACKGROUND May-Hegglin Anomaly is an autosomal dominant inherited condition, characterized by thrombocytopenia, giant platelets and Dohle-like bodies. Incidence is unknown and affected individuals can show from mild to moderate-severe haemorrhagic symptoms. The cyst of cavum veli interpositi (a virtual space filled with fluid within the third ventricle) is rarely reported in the foetal period. Furthermore, it is unclear whether isolated cavum veli interpositi cysts are a normal variant or developmental malformations. The simultaneous presence of these two anomalies was never described. CASE PRESENTATION We describe a very rare case of a twin monochorionic pregnancy in a woman with the May-Hegglin Anomaly, whose foetuses carried cavum veli interpositi cysts. Since childhood, our patient had shown macro-thrombocytopenia, deafness and bleeding (epistaxis and menorrhagia), but she was misdiagnosed until the age of 30 years when our Centre identified a de novo allelic variant in the gene MYH9 coding for the non-muscle myosin heavy chain IIa. Our patient bled neither during the pregnancy, nor in the peripartum period. Children are now eight-months-old and have never bled, although both inherited the MYH9 variant and have thrombocytopenia with giant platelets. Furthermore, none of them developed psychomotor disorders. CONCLUSIONS To the best of our knowledge, this is the sixth case of twin pregnancy in a woman carrying May-Hegglin Anomaly and the first one with cavum veli interpositi cysts in the neonates. We speculate that MYH9 could have, at least in part, played a role in the development of both conditions, as this gene has a pleiotropic effect.

Mario Mastroianno - One of the best experts on this subject based on the ideXlab platform.

  • The curious incident of a cavum velum interpositum cyst in twins of a mother carrying May-Hegglin Anomaly: a case report and short literature review.
    BMC pregnancy and childbirth, 2020
    Co-Authors: Giulio Giordano, Giovanni L Tiscia, Giovanni Favuzzi, Elena Chinni, Mariano Intrieri, Mario Mastroianno, Letizia Di Meglio, Maurizio Margaglione, Elvira Grandone
    Abstract:

    May-Hegglin Anomaly is an autosomal dominant inherited condition, characterized by thrombocytopenia, giant platelets and Dohle-like bodies. Incidence is unknown and affected individuals can show from mild to moderate-severe haemorrhagic symptoms. The cyst of cavum veli interpositi (a virtual space filled with fluid within the third ventricle) is rarely reported in the foetal period. Furthermore, it is unclear whether isolated cavum veli interpositi cysts are a normal variant or developmental malformations. The simultaneous presence of these two anomalies was never described. We describe a very rare case of a twin monochorionic pregnancy in a woman with the May-Hegglin Anomaly, whose foetuses carried cavum veli interpositi cysts. Since childhood, our patient had shown macro-thrombocytopenia, deafness and bleeding (epistaxis and menorrhagia), but she was misdiagnosed until the age of 30 years when our Centre identified a de novo allelic variant in the gene MYH9 coding for the non-muscle myosin heavy chain IIa. Our patient bled neither during the pregnancy, nor in the peripartum period. Children are now eight-months-old and have never bled, although both inherited the MYH9 variant and have thrombocytopenia with giant platelets. Furthermore, none of them developed psychomotor disorders. To the best of our knowledge, this is the sixth case of twin pregnancy in a woman carrying May-Hegglin Anomaly and the first one with cavum veli interpositi cysts in the neonates. We speculate that MYH9 could have, at least in part, played a role in the development of both conditions, as this gene has a pleiotropic effect.

  • the curious incident of a cavum velum interpositum cyst in twins of a mother carrying May Hegglin Anomaly a case report and short literature review
    BMC Pregnancy and Childbirth, 2020
    Co-Authors: Giulio Giordano, Giovanni L Tiscia, Giovanni Favuzzi, Elena Chinni, Mariano Intrieri, Mario Mastroianno, Letizia Di Meglio, Maurizio Margaglione, Elvira Grandone
    Abstract:

    BACKGROUND May-Hegglin Anomaly is an autosomal dominant inherited condition, characterized by thrombocytopenia, giant platelets and Dohle-like bodies. Incidence is unknown and affected individuals can show from mild to moderate-severe haemorrhagic symptoms. The cyst of cavum veli interpositi (a virtual space filled with fluid within the third ventricle) is rarely reported in the foetal period. Furthermore, it is unclear whether isolated cavum veli interpositi cysts are a normal variant or developmental malformations. The simultaneous presence of these two anomalies was never described. CASE PRESENTATION We describe a very rare case of a twin monochorionic pregnancy in a woman with the May-Hegglin Anomaly, whose foetuses carried cavum veli interpositi cysts. Since childhood, our patient had shown macro-thrombocytopenia, deafness and bleeding (epistaxis and menorrhagia), but she was misdiagnosed until the age of 30 years when our Centre identified a de novo allelic variant in the gene MYH9 coding for the non-muscle myosin heavy chain IIa. Our patient bled neither during the pregnancy, nor in the peripartum period. Children are now eight-months-old and have never bled, although both inherited the MYH9 variant and have thrombocytopenia with giant platelets. Furthermore, none of them developed psychomotor disorders. CONCLUSIONS To the best of our knowledge, this is the sixth case of twin pregnancy in a woman carrying May-Hegglin Anomaly and the first one with cavum veli interpositi cysts in the neonates. We speculate that MYH9 could have, at least in part, played a role in the development of both conditions, as this gene has a pleiotropic effect.