The Experts below are selected from a list of 18 Experts worldwide ranked by ideXlab platform
Rene Wildenauer - One of the best experts on this subject based on the ideXlab platform.
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abstract 333 vascular type ehlers danlos syndrome is associated with Thrombocyte Dysfunction and low vitamin d serum concentration
Arteriosclerosis Thrombosis and Vascular Biology, 2016Co-Authors: Albert Busch, Lars Maegdefessel, Rene WildenauerAbstract:Introduction: The Ehlers-Danlos syndrome is a rare genetic disorder characterized by a heterogeneous mixture of orthopedic, visceral, ophthalmological and vascular affection based on an even broader variety of genetic subtypes. Besides disturbance in all-day life, vascular type EDS often results in life threatening spontaneous bleeding or aneurysm formation with high risk of rupture. Additional impairment of normal hemostasis, especially in emergency scenarios, is suspected. Material and methods: In collaboration with the German National EDS Initiative and funding by the Eva Luise and Horst Kohler Foundation for Rare Diseases, we set up a nationwide screening of blood coagulation tests in vascular type and mixture type EDS patients under normal conditions. Screening was made for blood count, bleeding time, factor XIII, fibrinogen, PFA100, Born aggregometry, ROTEM analysis, C-reactive protein and von Willebrand Factor activity. Results: The genetics of 25 vascular type EDS diagnosed patients in Germany are very heterogeneous, making results difficult to compare. Coagulation disorders of various kinds, however, do appear and affect every aspect of the coagulation cascade. Phenotypes worse within families with clear inheritance patterns suggesting a loss of function. Additionally Vitamin D3 shortage might impair bone mineralization worsening common orthopedic symptoms as well as vascular structural health. Outlook: Decision making for vascular surgery in EDS patients should be made very carefully. A complete coagulation workup together with a hematologist should precede surgery whenever possible. Our study will continue to enroll patients in order to generalize results and verify coagulation disorders.
Albert Busch - One of the best experts on this subject based on the ideXlab platform.
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abstract 333 vascular type ehlers danlos syndrome is associated with Thrombocyte Dysfunction and low vitamin d serum concentration
Arteriosclerosis Thrombosis and Vascular Biology, 2016Co-Authors: Albert Busch, Lars Maegdefessel, Rene WildenauerAbstract:Introduction: The Ehlers-Danlos syndrome is a rare genetic disorder characterized by a heterogeneous mixture of orthopedic, visceral, ophthalmological and vascular affection based on an even broader variety of genetic subtypes. Besides disturbance in all-day life, vascular type EDS often results in life threatening spontaneous bleeding or aneurysm formation with high risk of rupture. Additional impairment of normal hemostasis, especially in emergency scenarios, is suspected. Material and methods: In collaboration with the German National EDS Initiative and funding by the Eva Luise and Horst Kohler Foundation for Rare Diseases, we set up a nationwide screening of blood coagulation tests in vascular type and mixture type EDS patients under normal conditions. Screening was made for blood count, bleeding time, factor XIII, fibrinogen, PFA100, Born aggregometry, ROTEM analysis, C-reactive protein and von Willebrand Factor activity. Results: The genetics of 25 vascular type EDS diagnosed patients in Germany are very heterogeneous, making results difficult to compare. Coagulation disorders of various kinds, however, do appear and affect every aspect of the coagulation cascade. Phenotypes worse within families with clear inheritance patterns suggesting a loss of function. Additionally Vitamin D3 shortage might impair bone mineralization worsening common orthopedic symptoms as well as vascular structural health. Outlook: Decision making for vascular surgery in EDS patients should be made very carefully. A complete coagulation workup together with a hematologist should precede surgery whenever possible. Our study will continue to enroll patients in order to generalize results and verify coagulation disorders.
A. Von Felten - One of the best experts on this subject based on the ideXlab platform.
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May-Hegglin anomaly: further studies on Thrombocyte Dysfunction
Schweizerische Medizinische Wochenschrift, 1997Co-Authors: K. Mayer, O. Schildknecht, A. Von FeltenAbstract:: The May-Hegglin anomaly is an extremely rare, autosomal dominant inherited disorder characterized by alterations in white cells and in blood platelets. The granulocytes show basophilic inclusion bodies of no clinical importance. Usually moderate thrombocytopenia with variable platelet size, including giant platelets, is also found. Clinically a mild hemorrhagic diathesis may occur. We report on a so far asymptomatic patient from the second family described by Hegglin et al. in 1964 [1] who had to be treated for repeated life-threatening bleedings. A moderate prolongation of bleeding time was found, corresponding to the reduced platelet count; platelet aggregation induced by ADP, collagen, ristocetin or arachidonic acid was not impaired. Therefore, there is at present no evidence of a congenital platelet function defect in the May-Hegglin anomaly. The bleeding time improved temporarily in our patient on administration of DDAVP (Minirin); platelet substitution is indicated in special situations only.
Susan R. Ross - One of the best experts on this subject based on the ideXlab platform.
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New World Arenavirus Biology.
Annual review of virology, 2017Co-Authors: Nicolás Sarute, Susan R. RossAbstract:Hemorrhagic fevers caused by viruses were identified in the late 1950s in South America. These viruses have existed in their hosts, the New World rodents, for millions of years. Their emergence as infectious agents in humans coincided with changes in the environment and farming practices that caused explosions in their host rodent populations. Zoonosis into humans likely occurs because the pathogenic New World arenaviruses use human transferrin receptor 1 to enter cells. The mortality rate after infection with these viruses is high, but the mechanism by which disease is induced is still not clear. Possibilities include direct effects of cellular infection or the induction of high levels of cytokines by infected sentinel cells of the immune system, leading to endothelia and Thrombocyte Dysfunction and neurological disease. Here we provide a review of the ecology and molecular and cellular biology of New World arenaviruses, as well as a discussion of the current animal models of infection. The development of animal models, coupled with an improved understanding of the infection pathway and host response, should lead to the discovery of new drugs for treating infections.
Lars Maegdefessel - One of the best experts on this subject based on the ideXlab platform.
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abstract 333 vascular type ehlers danlos syndrome is associated with Thrombocyte Dysfunction and low vitamin d serum concentration
Arteriosclerosis Thrombosis and Vascular Biology, 2016Co-Authors: Albert Busch, Lars Maegdefessel, Rene WildenauerAbstract:Introduction: The Ehlers-Danlos syndrome is a rare genetic disorder characterized by a heterogeneous mixture of orthopedic, visceral, ophthalmological and vascular affection based on an even broader variety of genetic subtypes. Besides disturbance in all-day life, vascular type EDS often results in life threatening spontaneous bleeding or aneurysm formation with high risk of rupture. Additional impairment of normal hemostasis, especially in emergency scenarios, is suspected. Material and methods: In collaboration with the German National EDS Initiative and funding by the Eva Luise and Horst Kohler Foundation for Rare Diseases, we set up a nationwide screening of blood coagulation tests in vascular type and mixture type EDS patients under normal conditions. Screening was made for blood count, bleeding time, factor XIII, fibrinogen, PFA100, Born aggregometry, ROTEM analysis, C-reactive protein and von Willebrand Factor activity. Results: The genetics of 25 vascular type EDS diagnosed patients in Germany are very heterogeneous, making results difficult to compare. Coagulation disorders of various kinds, however, do appear and affect every aspect of the coagulation cascade. Phenotypes worse within families with clear inheritance patterns suggesting a loss of function. Additionally Vitamin D3 shortage might impair bone mineralization worsening common orthopedic symptoms as well as vascular structural health. Outlook: Decision making for vascular surgery in EDS patients should be made very carefully. A complete coagulation workup together with a hematologist should precede surgery whenever possible. Our study will continue to enroll patients in order to generalize results and verify coagulation disorders.