Juliana Perez Botero

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INTRODUCTION Venous thromboembolism (VTE) is a recognized complication after joint replacement surgery, and prophylaxis is routinely used in patients without bleeding disorders. However, for patients with hemophilia, pharmacologic prophylaxis is highly variable and controversial because of the inherent bleeding risk. AIM To review our institutional(More)
Thrombocytopenia 2 (THC2), a non-syndromic, autosomal dominant thrombocytopenia, is caused by mutations in the ANKRD26 gene, located on chromosome 10p12. Thus far, 12 heterozygous single nucleotide substitutions in the 5′-untranslated region of the ANKRD26 gene have been described in 21 families. Affected patients usually present with moderate(More)
Objectives Patients with hereditary/congenital platelet disorders (HPDs) have a broad range of clinical manifestations and laboratory phenotypes. We assessed the performance characteristics of the International Society on Thrombosis and Haemostasis bleeding assessment tool (ISTH-BAT) and clinically validated platelet laboratory tests for diagnosis of HPDs.(More)
A 29-year-old man with a family history of Fanconi anemia presented for hematologic evaluation. On examination, he was noted to have short stature (157 cm), high arched palate, and webbing of the neck. Skin examination demonstrated café-aulait spots and hypopigmentation (Figure 1). Hand radiographs demonstrated that the right first distal phalanx and the(More)
BACKGROUND Women with inherited antithrombin (AT) deficiency are at high risk for venous thromboembolism (VTE), especially during times of estrogen exposure, but little is known about patient-oriented reproductive decision-making in this population. MATERIALS AND METHODS Provider-administered survey of women with AT deficiency. Participants were asked to(More)
: The diagnosis of inherited platelet disorders (IPDs) is challenging with variable diagnostic practices existing between institutions. To determine patterns and utility of diagnostic testing practices for IPDs within a single institution, a retrospective cohort study was performed. Records of 50 patients (50% women), median age 32 years (1 day to 81 years)(More)