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Lad-1/Variant Syndrome Is Caused by Mutations in Fermt3
(Amer Soc Hematology, 2009)
Leukocyte adhesion deficiency-1/variant (LAD1v) syndrome presents early in life and manifests by infections without pus formation in the presence of a leukocytosis combined with a Glanzmann-type bleeding disorder, resulting ...
Intracerebral Metastasis In Pediatric Acute Lymphoblastic Leukemia: A Rare Presentation
(2012)
Central nervous system leukemia may present in different ways. However, intraparenchymal mass is extremely rare in childhood leukemia. Herein, we report a boy who presented with right hemiparesis and anisocoria 1 year after ...
Hematopoietic Stem Cell Transplantation Using Preimplantation Genetic Diagnosis And Human Leukocyte Antigen Typing For Human Leukocyte Antigen-Matched Sibling Donor: A Turkish Multicenter Study
(Elsevier Science Inc, 2017)
Preimplantation genetic diagnosis involves the diagnosis of a genetic disorder in embryos obtained through in vitro fertilization, selection of healthy embryos, and transfer of the embryos to the mother's uterus. Preimplantation ...
Early Detection of Pulmonary Fungal Infection By Ct Scan in Pediatric All Patients Under Chemotherapy or In Post-Transplantation Period With Primary Complaint of Chest Pain
(Aves Yayincilik, 2010)
We describe herein four children with acute lymphoblastic leukemia who were diagnosed as pulmonary fungal infection after presenting with chest pain. The plain radiologic evaluations failed to reveal any positive findings, ...
Molecular Diagnosis Of Shwachman-Diamond Syndrome Presenting With Pancytopenia At An Early Age: The First Report From Turkey
(Springer India, 2013)
A three-month-old boy presented with growth failure, skeletal abnormalities, otitis media and pancytopenia. Exocrine pancreatic insufficiency was confirmed by low levels of fecal elastase. He was diagnosed as Shwachman-Diamond ...
Autoimmune Hemolytic Anemia and Giant Cell Hepatitis: Report of Three Infants
(Galenos Yayincilik, 2010)
Giant cell hepatitis associated with direct Coombs' test-positive hemolytic anemia is a rare condition of childhood and the pathogenesis remains unclear. An autoimmune activation and loss of self-tolerance in these patients ...
Gray Platelet Syndrome: Natural History Of A Large Patient Cohort And Locus Assignment To Chromosome 3P
(Amer Soc Hematology, 2010)
Gray platelet syndrome (GPS) is an inherited bleeding disorder characterized by macrothrombocytopenia and absence of platelet alpha-granules resulting in typical gray platelets on peripheral smears. GPS is associated with ...
Nbeal2 Is Mutated In Gray Platelet Syndrome And Is Required For Biogenesis Of Platelet Alpha-Granules
(2011)
Gray Platelet Syndrome (GPS) is an autosomal recessive bleeding disorder with large platelets that lack α-granules. We found that mutations of NBEAL2 (neurobeachin-like 2), encoding a BEACH/ARM/WD40 domain protein, cause ...
Serum Erythropoietin Levels In Pediatric Hematologic Disorders And Impact Of Recombinant Human Erythropoietin Use
(Galenos Yayincilik, 2009)
Objective: In anemic patients, the correlation between serum erythropoietin (sEpo) level and the severity of anemia has been reported previously. However. in different anemia groups, different sEpo levels are measured in ...
