Glanzmann thrombasthenia (GT), an autosomal recessive bleeding disorder, results from abnormalities in the platelet fibrinogen receptor, GP(IIb)-IIIa (integrin alpha(IIb)beta3). A patient with GT was identified as homozygous for a G-->A mutation 6 bp upstream of the GP(IIIa) exon 9 splice donor site. Patient platelet GP(IIIa) transcripts lacked exon 9 despite normal DNA sequence in all of the c...

Glanzmann thrombasthenia (GT) is an inherited genetic disorder affecting platelets, which is characterized by spontaneous mucocutaneous bleeding and abnormally prolonged bleeding in response to injury or trauma. The underlying defect is failure of platelet aggregation due to qualitative and/or quantitative deficiency of platelet integrin αIIbβ3 resulting from molecular genetic defects in either...

Integrins mediate the adhesion of cells to each other and to the extracellular matrix during development, immunity, metastasis, thrombosis, and wound healing. Molecular defects in either the or subunit can disrupt integrin synthesis, assembly, and/or binding to adhesive ligands. This is exemplified by the bleeding disorder, Glanzmann thrombasthenia (GT), where abnormalities of the plateletspeci...

INDIAN PEDIATRICS 1094 VOLUME 43__DECEMBER 17, 2006 An 8-year-old boy diagnosed as Glanzmann thrombasthenia (GT) by other center was referred to our department in March 2005. He has been followed with GT for 4 years. He complained difficulty in breathing and recurrent upper respiratory tract infections. We observed a big perforation at nasal septum and granulation tissue related with forgotten ...

BACKGROUND & OBJECTIVES Glanzmann thrombasthenia (GT) is a rare, inherited autosomal recessive disorder characterized by qualitative or quantitative deficiency of integrin αIIbβ3 [glycoprotein IIb (GPIIb)/IIIa, CD41/CD61] diagnosed by absent or reduced platelet aggregation to physiological agonists, namely, collagen, adenosine-di-phosphate, epinephrine and arachidonic acid. The objective of thi...

Patients with Glanzmann thrombasthenia fail to form large platelet thrombi due to mutations that affect the biosynthesis and/or function of the αIIbβ3 integrin. The result is a moderate to severe bleeding syndrome. We now report unusual vascular behaviour in a 55-year-old woman with classic type I disease (with no platelet αIIbβ3 expression) and a homozygous ITGA2B missense mutation (E324K) aff...

OBJECTIVES To describe and compare patients seeking treatment for sleep, anxiety and depressive disorders (SADD) from physicians in general practice (GPs) with three different practice preferences: strictly conventional medicine (GP-CM), mixed complementary and conventional medicine (GP-Mx) and certified homeopathic physicians (GP-Ho). DESIGN AND SETTING The EPI3 survey was a nationwide, obse...

With a shortage of GPs in England, there is a need to consider the career development for new GPs to ensure that they remain in post. This study examines, by means of a postal questionnaire survey, the views of GP registrars (GPRs) about their future careers in Yorkshire, England. The response rate was 59%. One hundred and eighteen (60%) responders were female, of whom 80 (39%) were planning to...

A novel charge-exchange recombination spectroscopy (CXRS) diagnostic method is presented, which uses a simple thermal gas puff for its donor neutral source, instead of the typical high-energy neutral beam. This diagnostic, named gas puff CXRS (GP-CXRS), is used to measure ion density, velocity, and temperature in the tokamak edge/pedestal region with excellent signal-background ratios, and has ...