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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 ...
Methylenetetrahydrofolate Reductase Polymorphisms And Pregnancy Outcome
(2018)
Introduction Aim of the study was to evaluate the effect of methylenetetrahydrofolate reductase (MTHFR) polymorphisms on pregnancy outcome. , Materials and Methods A total of 617 pregnancies of women who were investigated ...
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 ...
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 ...
Mechanism For Survival Of Homozygous Nonsense Mutations In The Tumor Suppressor Gene Brca1
(Natl Acad Sciences, 2018)
BRCA1 is essential for repair of DNA double-strand breaks by homologous recombination, and hence for survival. Complete loss of its function is lethal during early embryonic development. Patients who are compound heterozygous ...
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 ...
Spinal Cord Involvement In A Child With Familial Hemophagocytic Lymphohistiocytosis
(2012)
The involvement of the central nervous system (CNS) in familial hemophagocytic lymphohistiocytosis (FHL) has known to be limited to the brain, brain stem, and cerebellum. Herein, we report an 11-year-old boy who presented ...
