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Bernard Soulier syndrome: A case report from Pakistan [PDF]

Clinical Case Reports, 2023
Key Clinical Message Bernard Soulier Syndrome should be suspected in patients with bleeding disorder symptoms and significant family history, where consanguineous marriages are common.
Iqra Effendi, Ahsan Nadeem, Sara Sarfraz, Mubasshar Shahid, Minaam Farooq, Ayush Anand   +5 more
doaj   +3 more sources

Recurrent melena in a diagnosed case of Bernard Soulier syndrome [PDF]

Journal of Community Hospital Internal Medicine Perspectives, 2021
Bernard Soulier Syndrome is a genetically inherited platelet disorder that commonly presents with symptoms of impaired blood coagulation, such as epistaxis, menorrhagia, and petechiae formation. Here we present a case of Bernard Soulier Syndrome in which
Omair Ali Khan, Sheharyar Raashid, Sohaib Asghar, Ramsha Majeed, Mahnoor Fatima Sherazi, Fakeha Nayyer, Aisha Anis, Zainab Ehsan   +7 more
doaj   +3 more sources

Multivessel Percutaneous Coronary Intervention in a Patient With Bernard-Soulier Syndrome [PDF]

JACC: Case Reports, 2020
Bernard-Soulier syndrome, a congenital bleeding disorder, can rarely present with atherosclerosis and thrombosis. Acute coronary syndrome in such patients present a unique challenge as no standard set of guidelines exist for successful treatment.
Osman Faheem, MD, Bilal Hussain, MBBS, Mohammad Khurshid, MBBS, Arsalan Hamid, MBBS, MD, Anila Rashid, MBBS   +4 more
doaj   +2 more sources

Bernard–Soulier syndrome (BSS) with uncontrollable menorrhagia [PDF]

Asian Journal of Transfusion Science, 2020
Menorrhagia is a common problem in women of reproductive age group and 5% of women between 30 and 49 years of age group consult their general practitioner for this problem.
Debasmita Bhadra, Somajita Chakraborty
doaj   +2 more sources

Anesthesia Management Using Remimazolam in A Patient With Bernard‐Soulier Syndrome: A Case Report [PDF]

Clinical Case Reports
Bernard‐Soulier syndrome (BSS) is a platelet dysfunction disorder characterized by massive thrombocytopenia and a lack of platelet aggregation. Remimazolam, a short‐acting benzodiazepine sedative, is believed to have minimal effects on platelets.
Tomoharu Shakuo, Yusuke Ishida, Daiki Sugawara, Masato Ryo, Haruko Okazaki, Katsunori Oe   +5 more
doaj   +2 more sources

Novel Compound Heterozygous Mutations in Two Families With Bernard–Soulier Syndrome [PDF]

Frontiers in Pediatrics, 2021
Background: Bernard–Soulier Syndrome (BSS) is a rare autosomal recessive bleeding disorder with large platelets and thrombocytopenia. It is caused by homozygous or compound heterozygous mutations in the GP1BA, GP1BB, or GP9 genes, which together encode ...
Milen Minkov, Milen Minkov, Milen Minkov, Petra Zeitlhofer, Andreas Zoubek, Leo Kager, Simon Panzer, Oskar A. Haas, Oskar A. Haas   +8 more
doaj   +2 more sources

Coexistence of Immune Thrombocytopenic Purpura and Bernard-Soulier Syndrome: A Rare Pediatric Case Report [PDF]

International Medical Case Reports Journal
Sondus Alsharidah, Eman Almatar, Rania Lutfi, Omnia A Hashem Department of Hematology, NBK Specialized Children’s Hospital, Sabah, KuwaitCorrespondence: Eman Almatar, Department of Hematology, NBK Specialized Children’s Hospital, Sabah, Kuwait, Tel +965 ...
Alsharidah S, Almatar E, Lutfi R, Hashem OA   +3 more
doaj   +2 more sources

Successful Vaginal Delivery in a Pregnant Woman With Bernard–Soulier Syndrome: A Case Report [PDF]

Clinical Case Reports
Bernard–Soulier syndrome (BSS) is a rare inherited platelet disorder that poses major risks during pregnancy because of potential bleeding complications. Managing such cases in low‐resource settings is especially challenging.
Monireh Yaghoubi, Nona Sabeti, Ezat Hajmollarezaei   +2 more
doaj   +2 more sources

Bernard‐Soulier Syndrome: Identification of a Novel GP1BB Variant in a Mauritanian Patient [PDF]

Molecular Genetics & Genomic Medicine
Background Bernard‐Soulier syndrome (BSS) is a rare bleeding disorder caused by defects in the GPIb‐IX‐V complex, which is essential for platelet adhesion.
Mohamed Lemine Salem, Ektelbenina Zein, Ghaber Sidi Mohamed   +2 more
doaj   +2 more sources

Bernard-Soulier syndrome or idiopathic thrombocytopenic purpura: A case series [PDF]

Caspian Journal of Internal Medicine, 2020
Background: Bernard-Soulier syndrome (BSS) is a rare, autosomal recessive platelet function disorder which is commonly mistaken for idiopathic thrombocytopenic purpura (ITP).The report includes seven cases of BSS that have been diagnosed and treated as ...
Nahid Reisi
doaj   +2 more sources