Results 71 to 80 of about 2,361,484 (180)

Primigravida with Bernard-Soulier Syndrome: a case report. [PDF]

BMC Res Notes, 2015
Bernard-Soulier Syndrome is a rare congenital bleeding disorder, mainly inherited in an autosomal recessive pattern. It is characterized by a genetic defect on one of the four genes encoding the subunits of the transmembrane protein complex GPIb-V-IX, physiologically expressed only in platelets.
Macêdo MB, Brito Jde M, Macêdo Pda S, Brito JA.   +3 more
europepmc   +4 more sources

A Comprehensive Review of Gene Mutations in Inherited Blood Disorders Among the Saudi Population

Human Mutation, Volume 2026, Issue 1, 2026.
Background Inherited blood disorders (IBDs) are a major health concern in the Kingdom of Saudi Arabia (KSA), largely due to the high prevalence of consanguineous marriages. Objectives This review is aimed at summarizing gene mutations and variants associated with IBDs in the Saudi population to enhance diagnosis and personalized care. Methods Published
Nancy S. Younis, Rahma M. Alkabsh, Shahad M. Nasser Alqahtani, Hajer Aljuail, Manar A. Alhashim, Shahad A. Bokhamsin, Layla J. Albaqshi, Salsabil F. Alqadhib, Jumanah A. Aldandan, Zahra A. Alshakhs, Maryam H. Altaweel, Maged E. Mohamed, Priya Gusain   +12 more
wiley   +1 more source

How Trustworthy is Light Transmittance Platelet Aggregometry With Low Platelet Count Samples? Insights From Test Replicates and Retrospective Analysis of Several Decades of Diagnostic Samples

International Journal of Laboratory Hematology, Volume 47, Issue 6, Page 1147-1157, December 2025.
ABSTRACT Introduction Light transmission platelet aggregometry (LTA) is useful to diagnose platelet function disorders (PFD). We evaluated the precision and reproducibility of LTA with low platelet count platelet‐rich plasma (LPRP). Methods LPRP maximal aggregation (MA) precision for informative agonists and LTA reproducibility were assessed using ...
Catherine P. M. Hayward, Rabab Al Dawood, Lindsay Wice, Karen A. Moffat   +3 more
wiley   +1 more source

The perioperative management of Bernard-Soulier syndrome: a case report and review of the role of perioperative factor VIIa [PDF]

, 2011
This article presents the perioperative anaesthetic management of a patient with Bernard-Soulier syndrome (BSS). A literature search was conducted to examine the perioperative haemostatic management of BSS, with particular focus on the developing role of
Rodseth, RN
core  

Transcriptome profiling of megakaryocytes and platelets: Application to GP9‐ and IKZF5‐related thrombocytopenia

HemaSphere, Volume 9, Issue 9, September 2025.
Abstract Platelets are anucleate cells produced in the bone marrow and derived from large progenitor cells called megakaryocytes (MKs). Platelets receive RNA transcripts from their progenitorial MKs during thrombopoiesis. However, the correspondence between platelet and MK transcriptomes is poorly understood, particularly in the context of germline ...
Koenraad De Wispelaere, Fabienne Ver Donck, Kato Ramaekers, Chantal Thys, Koji Eto, Veerle Labarque, Ernest Turro, Kathleen Freson   +7 more
wiley   +1 more source

Intractable Gastrointestinal Bleeding from Angiodysplasia in a Patient of Bernard-Soulier Syndrome : Report of a Case [PDF]

, 2005
We herein report a case of gastrointestinal bleeding induced by angiodysplasia of the cecum in a case of Bernard-Soulier syndrome with recurrent breast cancer.
Toge, Tetsuya, Sawamura, Akihiro, Okita, Riki, Osaki, Akihiko, Yoshida, Kazuhiro, Yamaguchi, Yoshiyuki, Fujimura, Kingo, Konishi, Kazuo, Iwata, Takashi, Hihara, Jun   +9 more
core  

Bernard-Soulier Syndrome: An Inherited Platelet Disorder

Archives of Pathology & Laboratory Medicine, 2007
Abstract Bernard-Soulier syndrome is an inherited platelet disorder, which is transmitted in an autosomal recessive manner. This syndrome is characterized by variable thrombocytopenia and large defective platelets. Bernard-Soulier syndrome often presents early with bleeding symptoms, such as epistaxis, ecchymosis, menometrorrhagia ...
Angie, Pham, Jun, Wang
openaire   +2 more sources

Coincidence of familial platelet glycoprotein Ib/IX deficiency (Bernard-Soulier syndrome), idiopathic autoantibody against platelet glycoprotein Ib/IX, familial appearance of antiphospholipid antibodies, and familial factor XII deficiency.

, 1994
The case of an 8-year-old boy with apparently homozygous Bernard-Soulier syndrome (platelet GP Ib/IX complex deficiency) and a transient idiopathic autoantibody against GP Ib/IX is described. He had been diagnosed with chronic autoimmune thrombocytopenia
Feldges A, Lutz S, Lenz A, Baumgartner C, Riesen W, Knöpfl C, Korte W, Schmid L   +7 more
core   +1 more source

Decreased Thrombotic Tendency in Mouse Models of the Bernard-Soulier Syndrome

, 2007
International audienceObjective— The platelet glycoprotein (GP)Ib-V-IX complex is a receptor required for normal hemostasis deficient in the Bernard-Soulier bleeding disorder.
Lanza, François, Gachet, Christian, David, Tovo, Leon, Catherine, Freund, Monique, Cazenave, Jean-Paul, Strassel, Catherine, Nonne, Christelle, Eckly, Anita   +8 more
core   +1 more source

A Case Report on the Surgical Extraction of a Third Molar in a Patient with Bernard–Soulier Syndrome, an Uncommon Disease

Indian Journal of Dental Sciences
We present a case of a patient with Bernard–Soulier syndrome (BSS) who had his impacted third mandibular molar surgically extracted. An uncommon congenital bleeding condition called BSS is inherited in an autosomal recessive fashion.
Ashish Kamboj, Chandan Mishra, Paras Angrish, S.S Chopra, Sunil Kumar Singh   +4 more
doaj   +1 more source