The Experts below are selected from a list of 18 Experts worldwide ranked by ideXlab platform
Maria Grazia Porpora - One of the best experts on this subject based on the ideXlab platform.
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endometriosis and Glanzmanns Thrombasthenia
Journal of Biological Regulators and Homeostatic Agents, 2016Co-Authors: Ludovica Imperiale, Lucia Manganaro, Adele Ticino, Ilaria Piacenti, Emanuela Anastasi, Serena Resta, Benedetti P Panici, Maria Grazia PorporaAbstract:Glanzmanns Thrombasthenia (GT) is a rare bleeding syndrome characterized by deficiency or defect of platelet aggregation complex. The pathogenesis of endometriosis is controversial but the strongest evidence leans towards retrograde menstruation. GT probably predisposes to endometriosis. The management of women affected by this disease can be difficult due to the risk of bleeding complications, especially during surgical treatment. We describe the cases of three sisters affected by endometriosis and GT, referred to our Department, who received different therapeutic management.
Ludovica Imperiale - One of the best experts on this subject based on the ideXlab platform.
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endometriosis and Glanzmanns Thrombasthenia
Journal of Biological Regulators and Homeostatic Agents, 2016Co-Authors: Ludovica Imperiale, Lucia Manganaro, Adele Ticino, Ilaria Piacenti, Emanuela Anastasi, Serena Resta, Benedetti P Panici, Maria Grazia PorporaAbstract:Glanzmanns Thrombasthenia (GT) is a rare bleeding syndrome characterized by deficiency or defect of platelet aggregation complex. The pathogenesis of endometriosis is controversial but the strongest evidence leans towards retrograde menstruation. GT probably predisposes to endometriosis. The management of women affected by this disease can be difficult due to the risk of bleeding complications, especially during surgical treatment. We describe the cases of three sisters affected by endometriosis and GT, referred to our Department, who received different therapeutic management.
Kanjaksha Ghosh - One of the best experts on this subject based on the ideXlab platform.
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Molecular Pathology of Rare Bleeding Disorders (RBDs) in India: A Systematic Review
2016Co-Authors: Bipin P. Kulkarni, Sona B. Nair, Manasi Vijapurkar, Leenam Mota, Sharda Shanbhag, Shehnaz Ali, Shrimati D. Shetty, Kanjaksha GhoshAbstract:Background: Though rare in occurrence, patients with rare bleeding disorders (RBDs) are highly heterogeneous and may manifest with severe bleeding diathesis. Due to the high rate of consanguinity in many caste groups, these autosomal recessive bleeding disorders which are of rare occurrence in populations across the world, may not be as rare in India. Objectives: To comprehensively analyze the frequency and nature of mutations in Indian patients with RBDs. Methods: Pubmed search was used (www.pubmed.com) to explore the published literature from India on RBDs using the key words ‘‘rare bleeding disorders’’, ‘‘mutations’’, ‘‘India’’, ‘‘fibrinogen’’, ‘‘afibrinogenemia’’, ‘‘factor II deficiency’’, ‘‘prothrombin’ ’ ‘‘factor VII deficiency’’, ‘‘factor V deficiency’’, ‘‘factor X deficiency’’, ‘‘factor XI deficiency’’, ‘‘combined factor V and VIII deficiency’’, ‘‘factor XIII deficiency’’, ‘‘Bernard Soulier syndrome’ ’ and ‘‘Glanzmanns Thrombasthenia’ ’ in different combinations. A total of 60 relevant articles could be retrieved. The distribution of mutations from India was compared with that of the world literature by referring to the Human Gene Mutation Database (HGMD) (www.hgmd.org). Results: Taken together, 181 mutations in 270 patients with different RBDs have been reported from India. Though the types of mutations reported from India and their percentage distribution with respect to the world data are largely similar, yet much higher percentage of small deletions, duplication mutations, insertions, indels were observed in this analysis. Besides the identification of novel mutations and polymorphisms, several common mutations have also been reported
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Molecular Pathology of Rare Bleeding Disorders (RBDs) in India: A Systematic Review
2014Co-Authors: Bipin P. Kulkarni, Sona B. Nair, Manasi Vijapurkar, Leenam Mota, Sharda Shanbhag, Shehnaz Ali, Shrimati D. Shetty, Kanjaksha GhoshAbstract:BackgroundThough rare in occurrence, patients with rare bleeding disorders (RBDs) are highly heterogeneous and may manifest with severe bleeding diathesis. Due to the high rate of consanguinity in many caste groups, these autosomal recessive bleeding disorders which are of rare occurrence in populations across the world, may not be as rare in India.ObjectivesTo comprehensively analyze the frequency and nature of mutations in Indian patients with RBDs.MethodsPubmed search was used (www.pubmed.com) to explore the published literature from India on RBDs using the key words “rare bleeding disorders”, “mutations”, “India”, “fibrinogen”, “afibrinogenemia”, “factor II deficiency”, “prothrombin” “factor VII deficiency”, “factor V deficiency”, “factor X deficiency”, “factor XI deficiency”, “combined factor V and VIII deficiency”, “factor XIII deficiency”, “Bernard Soulier syndrome” and “Glanzmanns Thrombasthenia” in different combinations. A total of 60 relevant articles could be retrieved. The distribution of mutations from India was compared with that of the world literature by referring to the Human Gene Mutation Database (HGMD) (www.hgmd.org).ResultsTaken together, 181 mutations in 270 patients with different RBDs have been reported from India. Though the types of mutations reported from India and their percentage distribution with respect to the world data are largely similar, yet much higher percentage of small deletions, duplication mutations, insertions, indels were observed in this analysis. Besides the identification of novel mutations and polymorphisms, several common mutations have also been reported, which will allow to develop a strategy for mutation screening in Indian patients with RBDs.ConclusionThere is a need for a consortium of Institutions working on the molecular pathology of RBDs in India. This will facilitate a quicker and cheaper diagnosis of RBDs besides its utility in first trimester prenatal diagnosis of the affected families.
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Molecular pathology of rare bleeding disorders (RBDs) in India: a systematic review.
Public Library of Science (PLoS), 1Co-Authors: Bipin P. Kulkarni, Sona B. Nair, Manasi Vijapurkar, Leenam Mota, Sharda Shanbhag, Shehnaz Ali, Shrimati D. Shetty, Kanjaksha GhoshAbstract:Though rare in occurrence, patients with rare bleeding disorders (RBDs) are highly heterogeneous and may manifest with severe bleeding diathesis. Due to the high rate of consanguinity in many caste groups, these autosomal recessive bleeding disorders which are of rare occurrence in populations across the world, may not be as rare in India.To comprehensively analyze the frequency and nature of mutations in Indian patients with RBDs.Pubmed search was used (www.pubmed.com) to explore the published literature from India on RBDs using the key words "rare bleeding disorders", "mutations", "India", "fibrinogen", "afibrinogenemia", "factor II deficiency", "prothrombin" "factor VII deficiency", "factor V deficiency", "factor X deficiency", "factor XI deficiency", "combined factor V and VIII deficiency", "factor XIII deficiency", "Bernard Soulier syndrome" and "Glanzmanns Thrombasthenia" in different combinations. A total of 60 relevant articles could be retrieved. The distribution of mutations from India was compared with that of the world literature by referring to the Human Gene Mutation Database (HGMD) (www.hgmd.org).Taken together, 181 mutations in 270 patients with different RBDs have been reported from India. Though the types of mutations reported from India and their percentage distribution with respect to the world data are largely similar, yet much higher percentage of small deletions, duplication mutations, insertions, indels were observed in this analysis. Besides the identification of novel mutations and polymorphisms, several common mutations have also been reported, which will allow to develop a strategy for mutation screening in Indian patients with RBDs.There is a need for a consortium of Institutions working on the molecular pathology of RBDs in India. This will facilitate a quicker and cheaper diagnosis of RBDs besides its utility in first trimester prenatal diagnosis of the affected families
Adele Ticino - One of the best experts on this subject based on the ideXlab platform.
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endometriosis and Glanzmanns Thrombasthenia
Journal of Biological Regulators and Homeostatic Agents, 2016Co-Authors: Ludovica Imperiale, Lucia Manganaro, Adele Ticino, Ilaria Piacenti, Emanuela Anastasi, Serena Resta, Benedetti P Panici, Maria Grazia PorporaAbstract:Glanzmanns Thrombasthenia (GT) is a rare bleeding syndrome characterized by deficiency or defect of platelet aggregation complex. The pathogenesis of endometriosis is controversial but the strongest evidence leans towards retrograde menstruation. GT probably predisposes to endometriosis. The management of women affected by this disease can be difficult due to the risk of bleeding complications, especially during surgical treatment. We describe the cases of three sisters affected by endometriosis and GT, referred to our Department, who received different therapeutic management.
Ilaria Piacenti - One of the best experts on this subject based on the ideXlab platform.
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endometriosis and Glanzmanns Thrombasthenia
Journal of Biological Regulators and Homeostatic Agents, 2016Co-Authors: Ludovica Imperiale, Lucia Manganaro, Adele Ticino, Ilaria Piacenti, Emanuela Anastasi, Serena Resta, Benedetti P Panici, Maria Grazia PorporaAbstract:Glanzmanns Thrombasthenia (GT) is a rare bleeding syndrome characterized by deficiency or defect of platelet aggregation complex. The pathogenesis of endometriosis is controversial but the strongest evidence leans towards retrograde menstruation. GT probably predisposes to endometriosis. The management of women affected by this disease can be difficult due to the risk of bleeding complications, especially during surgical treatment. We describe the cases of three sisters affected by endometriosis and GT, referred to our Department, who received different therapeutic management.