Results 31 to 40 of about 2,361,484 (180)

A case of Bernard-Soulier syndrome.

Nihon Naika Gakkai Zasshi, 1987
十二指腸潰瘍を伴ったBernard-Soulier症候群の1症例を経験し,その血小板機能の検索を行なったので報告する.症例は21才,男性.昭和59年9月,下血にて入院.幼少時に診断されていたが,再検査により,大型血小板の出現,血小板減少,プロトロンビン消費の低下,血小板膜glycoprotein-1bの低下,血小板粘着能の著明な低下,リストセチンおよびウシ・フィブリノーゲン凝集の低下を認めた.本症例は,その血小板の数的,および機能異常の存在にも関わらず,鼻出血や十二指腸潰瘍の出血が保存的治療のみにて止血できており,その出血傾向は,血小板の数や機能だけでなく他の要因の影響をうけている可能性があると思われた.
OKI, Yumiko, YOSHIOKA, Kayo, KONISHI, Masato, HARADA, Tomoko, KABA, Manabu, NISHIHIRA, Kayo, SAKAKURA, Muneki, MASE, Kanshi, YASUNAGA, Koujirou   +8 more
openaire   +3 more sources

Novel point mutation in a leucine-rich repeat of the GPIbα chain of the platelet von Willebrand factor receptor, GPIb/IX/V, resulting in an inherited dominant form of Bernard-Soulier syndrome affecting two unrelated families: the N41H variant

Haematologica, 2008
In Italy, a significant proportion of patients with autosomal dominant inheritance of macrothrombocytopenia have been recognized as having heterozygous Bernard-Soulier syndrome carrying the Bolzano-type defect. This condition prompted a systematic review
Silvia Vettore, Raffaella Scandellari, Stefano Moro, Anna Maria Lombardi, Margherita Scapin, Maria Luigia Randi, Fabrizio Fabris   +6 more
doaj   +1 more source

Pregnancy and Delivery in Bernard‐Soulier Syndrome

Acta Obstetricia et Gynecologica Scandinavica, 1984
Abstract. This is the first reported case of a woman suffering from the Bernard‐Soulier syndrome who terminated pregnancy and gave birth normally to a healthy child. Although a great number of platelet and fresh blood units were transfused before and after delivery, a hysterectomy was performed the next day as the only solution to stop persisting ...
MICHALAS, S, MALAMITSIPUCHNER, A, TSEVRENIS, H   +2 more
openaire   +3 more sources

Myocardial infarction in two cousins heterozygous for ASN41HIS autosomal dominant variant of Bernard-Soulier syndrome. [PDF]

, 2012
Bernard-Soulier Syndrome is characterized by thrombocytopenia with large platelets and defective aggregation to ristocetin. The bleeding tendency is variable but may be severe.
Berti de Marinis G, Vettore S, FABRIS, FABRIZIO, VIANELLO, FABRIZIO, Girolami A   +4 more
core   +1 more source

Bernard-Soulier syndrome - pathogenesis and laboratory [PDF]

, 2019
Introduction: Our interest was provoked by a patient with a tendency to bleed, in whom peripheral blood pacing automatic analysis showed a platelet count of 86x10 / 9 / L and the morphological analysis of blood smears on Romanowsky-Giemsa stain showed ...
Osman, Nazli; Student, TRS Medical Laboratory Assistant, Medical College, Medical University of Varna, Tancheva, Stoyanka; General Medicine and Clinical Laboratory, Faculty of Medicine, Medical University of Varna, Azis, Feray; Student, TRS Medical Laboratory Assistant, Medical College, Medical University of Varna, Malcheva, Daniela; SMDL STATUS - Varna   +3 more
core   +1 more source

Two novel variants of uncertain significance in GP9 associated with Bernard–Soulier syndrome: Are they true mutations?

Platelets, 2018
Bernard–Soulier syndrome (BSS) is an autosomal recessive major thrombocytopathy, the symptoms of which are mainly marked by mucocutaneous bleeding.
P. Boisseau, C. Debord, M. Eveillard, A. Quéméner, M. Sigaud, M. Giraud, P. Talarmain, C. Thomas, G. Landeau, S. Bezieau, B. Pan Petesch, M. C. Béné, M. Fouassier   +12 more
doaj   +1 more source

A novel frameshift GP1BB mutation causes autosomal dominant macrothrombocytopenia with decreased vWF receptor expression but normal platelet aggregation

Platelets, 2022
GP1bβ is a component of the von Willebrand factor (vWF) receptor complex that is necessary for platelet formation and activation. A novel frameshift variant in GP1BB has been identified in a family with macrothrombocytopenia.
Caitlin Dunstan-Harrison, Ian M. Morison, Elizabeth C. Ledgerwood   +2 more
doaj   +1 more source

Phospholipase C activity in platelets from Bernard-Soulier syndrome patients.

, 1993
The levels of glycoprotein (GP) Ib and GPV and phospholipase C activity were measured in platelets from three Bernard-Soulier syndrome patients. The patients' platelets had 46%, 46%, and 24% of control levels of GPIb alpha and 43%, trace, and 13% of ...
A McNicol, K J Clemetson, J M Gerrard, J Drouin   +3 more
core   +1 more source

Hemostasis management of tooth extraction in a patient with Bernard–Soulier syndrome and a severe bleeding tendency: A case report [PDF]

, 2015
Bernard–Soulier syndrome is characterized by thrombocytopenia, giant platelets, and severe bleeding; although bleeding varies widely, it is usually evident from childhood and requires particular attention during surgeries.
Ikeno, Masayuki, Mishima, Sayaka, Nakao, Kazumasa, Bessho, Kazuhisa   +3 more
core   +1 more source

Clinical and laboratory features of 103 patients from 42 Italian families with inherited thrombocytopenia derived from the monoallelic Ala156Val mutation of GPIbα (Bolzano mutation)

Haematologica, 2012
Background Bernard-Soulier syndrome is a very rare form of inherited thrombocytopenia that derives from mutations in GPIbα, GPIbβ, or GPIX and is typically inherited as a recessive disease. However, some years ago it was shown that the monoallelic c.515C>
Patrizia Noris, Silverio Perrotta, Roberta Bottega, Alessandro Pecci, Federica Melazzini, Elisa Civaschi, Sabina Russo, Silvana Magrin, Giuseppe Loffredo, Veronica Di Salvo, Giovanna Russo, Maddalena Casale, Daniela De Rocco, Claudio Grignani, Marco Cattaneo, Carlo Baronci, Alfredo Dragani, Veronica Albano, Momcilo Jankovic, Saverio Scianguetta, Anna Savoia, Carlo L. Balduini   +21 more
doaj   +1 more source