Biomedical subjects

Stefan W Eber

Publications and source records attributed to Stefan W Eber.

5 recordsLinked to original sources

PubMed2006

Immunogenicity of sequential pneumococcal vaccination in subjects splenectomised for hereditary spherocytosis.

Splenectomy predisposes for invasive pneumococcal disease. We investigated the immune response of splenectomised hereditary spherocytosis (HS) patients upon sequential pneumococcal vaccination. Thirty-nine HS-patients (2- to 18-year-old) had undergone near-total or total splenectomy. All received one dose of 7-valent pneumococcal conjugate vaccine (PCV-7) and 23-valent-pneumococcal-polysaccharide vaccine (PPV-23) 2 months apart. Pneumococcal antibodies against serotypes 5/6B/7/14/18C/19F/23F and immunoglobulin serum concentrations were determined before PCV-7 and 4 weeks after PPV-23. Significant rises in antibody geometric mean concentrations were observed after PCV-7 except for serotypes 5 and 7, which increased after PPV-23. We found no impact of the mode of splenectomy.

Adolescent↗

PubMed2006

Near-total splenectomy for hereditary spherocytosis: clinical prospects in relation to disease severity.

We prospectively studied the efficacy of near total splenectomy (NTS) for managing hereditary spherocytosis (HS) based on haemoglobin (Hb), total bilirubin and splenic remnant regrowth in 30 children receiving NTS for HS between November 1996 and December 2004 (mean followup 3.6 years). Patients were classified into three severity groups. At followup, mean Hb had increased by 2.9-5.0 g/dl (P = 0.110) and bilirubin dropped by 15.4-56.4 mumol/l. Remnant regrowth was moderate, within the weight-specific norm. Amongst spleen-preserving techniques, NTS shows markedly lower rates of recurrent haemolysis, remnant regrowth and secondary operations, thus potentially benefiting all clinical forms of HS.

Adolescent↗

PubMed2005

Near-total splenectomy: a new technique for the management of hereditary spherocytosis.

OBJECTIVE: The authors used a new surgical technique of near-total splenectomy (NTS) and report their experience. SUMMARY BACKGROUND DATA: Total splenectomy is indicated for the management of patients with hereditary spherocytosis but may be complicated by severe infections and thromboembolic events. Studies have shown that partial or subtotal parenchymal resections can lead to excessive regeneration of the residual parenchyma. The resulting onset of hemolysis requires total splenectomy in a significant portion of patients. Our hypothesis was that a more radical approach to open resection permanently decreases recurrent hemolysis while potentially ensuring immune function. METHODS: This longitudinal cohort study included 42 patients with moderate to severe hereditary spherocytosis who underwent NTS according to an open procedure developed by the authors. The end criterion was to conserve a remnant spleen of 10 cm in size. RESULTS: Patient age ranged between 2 and 42 years. Mean resected spleen weight was 580 g; mean remnant volume was 10 cm (range, 8-11 cm). A surgical complication (loss of spleen) occurred in 1 patient. Six-month to 6-year follow-up data was available on 22 patients; 21 of 22 showed preserved phagocytosis and normal blood circulation of the remnant; 1 of 22 experienced secondary remnant necrosis. On average, the remnant spleen grew back to four and a half times its postoperative size. No patients required transfusions, developed gallstones, or symptomatic hemolysis. CONCLUSIONS: This new technique of NTS is safe, effective, and can minimize the late sequelae of secondary splenectomy.

Adolescent↗

PubMed2004

Radiographic and MRI features of deferiprone-related arthropathy of the knees in patients with beta-thalassemia.

OBJECTIVE: This study was undertaken to describe the radiographic and MRI appearances of arthropathy of the knees in 14 patients with beta-thalassemia major undergoing chelation therapy with deferiprone (L1). MATERIALS AND METHODS: All available radiographs and MRI studies of the knees in 14 beta-thalassemia major patients (mean age, 16.3 years; age range, 7-33 years) undergoing chelation therapy with L1 were retrospectively assessed for changes in the synovium, cartilage, and bone. Imaging findings and signs of knee arthropathy were correlated with chelation therapy and average serum ferritin concentration. RESULTS: Nine (64%) of the 14 patients developed arthralgia of the knees during treatment with L1. Abnormal imaging findings were present in all symptomatic and two asymptomatic patients (12/14, 86%) and included joint effusion, subchondral bone irregularity, and patellar beaks. Additional MRI findings were thickening and enhancement of the synovium; hypointense bands in the synovium; irregularly thickened epiphyseal and articular cartilage overlying subchondral bone defects; and, on T2-weighted sequences, hyperintense articular cartilage lesions. The degree of knee symptoms at the time of imaging did not reflect the severity of cartilage and subchondral bone changes. CONCLUSION: Radiologic changes can be seen in L1-related arthropathy and should be recognized. MRI of the knees should be considered in symptomatic children and young adults with thalassemia undergoing L1 chelation therapy for iron overload.

Adolescent↗

PubMed2003

Simultaneous (AC)n microsatellite polymorphism analysis and single-stranded conformation polymorphism screening is an efficient strategy for detecting ankyrin-1 mutations in dominant hereditary spherocytosis.

Nonsense/stop mutations in the ankyrin-1 gene (ANK1) are a major cause of dominant HS (dHS) (frequency of 23% in German dHS patients). To date, no common mutation has been found and therefore a simple mutation screening is not feasible. The reduced expression of one cDNA allele in the (AC)n microsatellite polymorphism of the ankyrin-1 gene, as seen in about 20% of Czech patients with dHS, may identify candidates with a possible frameshift/nonsense mutation. In order to verify the efficiency of this screening we screened the ankyrin-1 gene of 22 Czech dHS patients for both the reduced cDNA allele expression in the frequent (AC)n and the common exonic 26/39 polymorphisms, as well as for polymerase chain reaction (PCR) single-stranded conformation polymorphisms in any one of the 42 exons of ANK1. Anomalous PCR products were sequenced. We found seven new ANK1 frameshift/nonsense mutations in nine patients with, but in none of six patients without, a reduced cDNA allele expression (efficiency of 78%). We conclude that screening of dHS patients for such a reduced allele expression in common ANK1 polymorphisms is an efficient procedure for the identification of candidates for frameshift/nonsense mutations in the ankyrin-1 gene.

Ankyrins↗