نتایج جستجو برای: diamond syndrome

تعداد نتایج: 641805  

Journal: :International Journal of Contemporary Pediatrics 2018

2011
Mathijs O. Versteylen Ivo A. Joosen Leslee J. Shaw Jagat Narula Leonard Hofstra

BACKGROUND Cardiologists are often confronted with patients presenting with chest pain, in whom clinical risk profiling is required. We studied four frequently used risk scores in their ability to predict for coronary artery disease (CAD) and major adverse cardiovascular events in patients presenting with stable chest pain at the cardiology outpatient clinic. METHODS AND RESULTS We enrolled 1...

پایان نامه :دانشگاه آزاد اسلامی واحد علوم پزشکی تهران - دانشکده علوم پزشکی 1389

هدف: در این مطالعه به بررسی اثر تزریق کورتیکواسترویید در درمان infrapatellar fat pad syndrome در بیماران مراجعه کننده به درمانگاه ارتوپدی بیمارستان امیرالمومنین (ع) تهران در سال 1388 پرداختیم.روش مطالعه: این مطالعه به صورت یک بررسی مداخله ای (interventional) از نوع نیمه تجربی (quasi-experimental) انجام گردیده است. جامعه مورد بررسی شامل 60 نفر از افراد مبتلا به infrapatellar fat pad syndrome بود...

Journal: :Blood 2011
Kelly A McGowan Wendy W Pang Rashmi Bhardwaj Marcelina G Perez John V Pluvinage Bertil E Glader Reem Malek Susan M Mendrysa Irving L Weissman Christopher Y Park Gregory S Barsh

Reduced gene dosage of ribosomal protein subunits has been implicated in 5q- myelodysplastic syndrome and Diamond Blackfan anemia, but the cellular and pathophysiologic defects associated with these conditions are enigmatic. Using conditional inactivation of the ribosomal protein S6 gene in laboratory mice, we found that reduced ribosomal protein gene dosage recapitulates cardinal features of t...

Journal: :Journal of medical genetics 1972
M L Falter M G Robinson

Since congenital hypoplastic anaemia was first described by Diamond and Blackfan in 1938, over a hundred cases have been reported in the literature. The syndrome is characterized by a profound persistent anaemia, onset early in infancy, a severe hypoplasia of the erythroid precursors of the bone marrow, and absence of other haematological abnormalities. Until steroids become available for treat...

Journal: :Haematologica 2008
Aurore Crétien Corinne Hurtaud Hélène Moniz Alexis Proust Isabelle Marie Orianne Wagner-Ballon Valérie Choesmel Pierre-Emmanuel Gleizes Thierry Leblanc Jean Delaunay Gil Tchernia Narla Mohandas Lydie Da Costa

BACKGROUND Mutations in the ribosomal protein S19 gene (RPS19) have been found in 25% of patients with Diamond-Blackfan anemia, a rare syndrome of congenital bone marrow failure characterized by erythroblastopenia and various malformations. Mechanistic understanding of the role of RPS19 in normal erythropoiesis and in the Diamond-Blackfan anemia defect is still poor. However, defective ribosome...

2006
Johnson M. Liu Steven R. Ellis

Gene products mutated in the inherited bone marrow failure syndromes dyskeratosis congenita (DC), cartilage-hair hypoplasia (CHH), Diamond-Blackfan anemia (DBA), and Shwachman-Diamond syndrome (SDS), are all predicted to be involved in different aspects of ribosome synthesis. At this moment, however, it is unclear whether this link indicates a causal relationship. Although defective ribosome sy...

2006
Johnson M. Liu Steven R. Ellis

Gene products mutated in the inherited bone marrow failure syndromes dyskeratosis congenita (DC), cartilage-hair hypoplasia (CHH), Diamond-Blackfan anemia (DBA), and Shwachman-Diamond syndrome (SDS) are all predicted to be involved in different aspects of ribosome synthesis. At this moment, however, it is unclear whether this link indicates a causal relationship. Although defective ribosome syn...

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