High penetrance of inferior vena cava system atresia in severe thrombophilia caused by homozygous antithrombin Budapest 3 variant: Description of a new syndrome.

Atresia of inferior vena cava (IVC) is a rare congenital malformation associated with high risk of venous thrombosis that still has unknown etiology, although intrauterine IVC thrombosis has been suggested to be involved. The identification of IVC atresia in a case with early idiopathic venous thrombosis and antithrombin deficiency caused by the homozygous SERPINC1 c.391C > T variant (p.Leu131Phe; antithrombin Budapest 3) encouraged us to evaluate the role of this severe thrombophilia in this vascular abnormality. We have done a cross-sectional study in previously identified cohorts of patients homozygous for the Budapest 3 variant (N = 61) selected from 1118 patients with congenital antithrombin deficiency identified in two different populations: Spain (N = 692) and Hungary (N = 426). Image analysis included computed tomography and phlebography. Atresia of the IVC system was observed in 17/24 cases (70.8%, 95% confidence interval [CI]: 48.9%-87.3%) homozygous for antithrombin Budapest 3 with available computed tomography (5/8 and 12/16 in the Spanish and Hungarian cohorts, respectively), 16 had an absence of infrarenal IVC and one had atresia of the left common iliac vein. All cases with vascular defects had compensatory mechanisms, azygos-hemiazygos continuation or double IVC, and seven also had other congenital anomalies. Short tandem repeat analysis supported the specific association of the IVC system atresia with SERPINC1. We show the first evidence of the association of a severe thrombophilia with IVC system atresia, supporting the possibility that a thrombosis in the developing fetal vessels is the reason for this anomaly. Our hypothesis-generating results encourage further studies to investigate severe thrombophilic states in patients with atresia of IVC.

Ultrasound therapy in rectus sheath hematoma.

BACKGROUND AND PURPOSE: Ultrasound (US) is one of the most common modalities used in intervention for musculoskeletal disorders, although its effectiveness is debated. The purpose of this case report is to describe the intervention, including the use of US, in the management of a large rectus sheath hematoma (RSH) in a patient receiving anticoagulant therapy. CASE DESCRIPTION: The patient was a 62-year-old woman with RSH who was receiving oral anticoagulant therapy and had a history of bouts of coughing. Computed tomographic scans verified the diagnosis of RSH. The report describes the patient examination, management, intervention, and outcomes. OUTCOMES: The intervention, including the use of US therapy, may have enabled a rapid resolution of the hematoma. DISCUSSION: This case report illustrates how US may be a useful modality for complementary management of RSH, helping the reabsorption of the hematoma.

Detection of free hepatitis C virus core antigen by enzyme-linked immunosorbent assay is not suitable for screening of granulocyte colony-stimulating factor-mobilized hematopoietic progenitor donors.

BACKGROUND: Recent studies have shown that hepatitis C virus (HCV) can be detected in peripheral blood mononuclear cells of patients who are negative for the presence of anti-HCV and serum HCV RNA. The aim of the study was to evaluate the prevalence of HCV viremia in granulocyte colony-stimulating factor (G-CSF) mobilized peripheral blood progenitor cell (PBPC) donors by the use of a free HCV core antigen enzyme-linked immunosorbent assay (ELISA). STUDY DESIGN AND METHODS: A total of 28 samples from consecutive PBPC donors that were mobilized with G-CSF, and 13 samples from patients presenting with leukocytosis of greater than 20 x 10(9) per L from other causes, were tested by a free HCV core antigen ELISA. Positive samples were confirmed by use of neutralization assays. The specificity of the assay was studied in 48,911 healthy blood donors negative for the presence of anti-HCV. RESULTS: The free HCV core antigen assay showed a 46.4 percent positivity in PBPC donors mobilized with G-CSF and 61.5 percent in patients exhibiting leukocytosis in the absence of G-CSF treatment. All the samples were found to be false-positive samples, and those related with growth factor treatment did not react when G-CSF was discontinued. Overall specificity by the test in freshly collected blood donor specimens was 99.62 percent. CONCLUSION: Data indicate that the free HCV core antigen ELISA is not a valid test in diagnosing HCV infection in G-CSF-treated PBPC donors. Moreover, false-positive results of this test on blood donors might be indicative of elevated white blood cell numbers. The low specificity of this assay in the PBPC mobilization setting suggests that molecular assays should be the test of choice in the screening of G-CSF-treated donors.