Affiliation: University of Ulm
- Childhood polycythemias/erythrocytoses: classification, diagnosis, clinical presentation, and treatmentH Cario
Department of Pediatrics, University Hospital Ulm, Prittwitzstrasse 43, 89075 Ulm, Germany
Ann Hematol 84:137-45. 2005..g., by hemoglobin variants with increased oxygen affinity, by 2,3-bisphosphoglycerate deficiency, or by mutations in the von Hippel-Lindau gene associated with a disturbed oxygen-dependent regulation of Epo synthesis...
- A microdeletion syndrome due to a 3-Mb deletion on 19q13.2--Diamond-Blackfan anemia associated with macrocephaly, hypotonia, and psychomotor retardationH Cario
Department of Pediatrics, University Children s Hospital Ulm, Germany
Clin Genet 55:487-92. 1999..This deletion coincides with the deletion reported here. We suggest that the complex phenotype of our patient, including both DBA and the associated features, represent a microdeletion syndrome...
- Mutations in the von Hippel-Lindau (VHL) tumor suppressor gene and VHL-haplotype analysis in patients with presumable congenital erythrocytosisHolger Cario
Dept of Pediatrics, University Hospital Ulm, Prittwitzstrasse 43 D 89075 Ulm, Germany
Haematologica 90:19-24. 2005..Subsequently this and other mutations in the VHL gene were also detected in several patients of different ethnic origin. Haplotype analyses of the VHL gene suggested a common origin for the Chuvash-type mutation...
- Congenital erythrocytosis and polycythemia vera in childhood and adolescenceH Cario
Department of Paediatrics, University Hospital Ulm, Germany
Klin Padiatr 216:157-62. 2004....
- Familial polycythemia vera with Budd-Chiari syndrome in childhoodHolger Cario
Department of Paediatrics, University Hospital Ulm, Germany
Br J Haematol 123:346-52. 2003..The patient underwent orthotopic liver transplantation and is being treated with hydroxyurea. The available literature on familial polycythemia vera and polycythemia vera in childhood with and without Budd-Chiari syndrome is reviewed...
- Insulin sensitivity and beta-cell secretion in thalassaemia major with secondary haemochromatosis: assessment by oral glucose tolerance testHolger Cario
Department of Paediatrics, University of Ulm, Prittwitzstrasse 43, 89075 Ulm, Germany
Eur J Pediatr 162:139-46. 2003..004). CONCLUSION: Insulin resistance is of central importance for the development of diabetes mellitus in patients with secondary haemochromatosis. An additional early defect in beta-cell secretion cannot be excluded...
- Disproportionately elevated fasting proinsulin levels in normoglycemic patients with thalassemia major are correlated to the degree of iron overloadHolger Cario
Department of Pediatrics, University of Ulm, Germany
Horm Res 59:73-8. 2003..To analyze the secretion of the insulin precursor proinsulin in patients with beta-thalassemia and its possible relation to iron overload...
- Treatment with hydroxyurea in thalassemia intermedia with paravertebral pseudotumors of extramedullary hematopoiesisH Cario
Department of Pediatrics, University of Ulm, University Children s Hospital, Prittwitzstr 43, 89070 Ulm, Germany
Ann Hematol 81:478-82. 2002..In thalassemia intermedia patients with extramedullary hematopoiesis, hydroxyurea may lead to independence from regular transfusion therapy without further expansion of ectopic hematopoietic tissue...
- Epidemiological situation and treatment of patients with thalassemia major in Germany: results of the German multicenter beta-thalassemia studyH Cario
Department of Pediatrics, University Children s Hospital, Prittwitzstrasse 43, D 89070 Ulm, Germany
Ann Hematol 79:7-12. 2000..Since the situation concerning siderosis and the lack of compliance proved to be particularly difficult with adolescent patients, further efforts should concentrate on this age-group...
- Postinflammatorial stenoses of the pharynx in a child with Barth-syndromeUlla Folger
Department of Otorhinolaryngology, University of Ulm, Prittwitzstrasse 73, 89075 Ulm, Germany
Int J Pediatr Otorhinolaryngol 67:117-20. 2003..The tracheostomy was closed and the gastrostomy tube was removed. Throughout a 40 month period of observation the child had no more complaints relating to the minor residual pharyngeal stenoses...
- Clinical and molecular characterisation of a prospectively collected cohort of children and adolescents with polycythemia veraHolger Cario
Department of Paediatrics, University Hospital Ulm, Ulm, Germany
Br J Haematol 142:622-6. 2008..The JAK2(V617F) mutation was found in six patients; two patients displayed JAK2 exon 12 mutations, including one novel mutation (JAK2(H538-K539delinsI)). CD177 (PRV-1) mRNA expression was increased in three of five patients tested...
- The JAK2V617F mutation is acquired secondary to the predisposing alteration in familial polycythaemia veraHolger Cario
Br J Haematol 130:800-1. 2005
- Molecular genetic analyses in familial and sporadic congenital primary erythrocytosisSusana Rives
Department of Pediatric Hematology and Oncology, Hospital Sant Joan de Deu, Barcelona, Spain
Haematologica 92:674-7. 2007..All familial cases, varied in phenotype, presented the EPOR 1414C->G (Tyr426Stop) mutation. JAK2 mutations are not involved in the pathogenesis of primary congenital erythrocytosis...
- Prospective evaluation of patient-reported outcomes during treatment with deferasirox or deferoxamine for iron overload in patients with beta-thalassemiaMaria Domenica Cappellini
Fondazione Policlinico IRCCS, Universitd di Milano, Milan, Italy
Clin Ther 29:909-17. 2007..Deferasirox is an orally administered iron chelator that has been approved for use in the United States, Switzerland, and other countries...
- Relative response of patients with myelodysplastic syndromes and other transfusion-dependent anaemias to deferasirox (ICL670): a 1-yr prospective studyJohn Porter
University College London, London, UK
Eur J Haematol 80:168-76. 2008..Dosage was determined by baseline liver iron concentration (LIC)...