Research Topics
Species | Holger CarioSummaryAffiliation: University of Ulm Country: Germany Publications
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Detail Information
Publications
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)...
