ABSTRACT
Veno-occlusive disease (VOD) is a life-threatening complication following allogeneic or autologous stem cell transplantation. We report on a patient with a high grade B-cell lymphoma who presented 28 days after the second autologous stem cell transplantation with weight gain, ascites, hyperbilirubinemia, and liver venules occlusion as demonstrated by sonography. Starting with high-dose methylprednisolone treatment followed by defibrotide maintenance therapy the patient showed dramatic complete response of VOD, resulting in a normal sonography of the liver and normalization of laboratory values. The response of the occlusion of nearly all liver venules underlines the value of anti-inflammatory treatment combined with new thrombolytic medication such as defibrotide for the treatment of severe VOD.
Subject(s)
Anti-Inflammatory Agents/pharmacology , Fibrinolytic Agents/pharmacology , Hematopoietic Stem Cell Transplantation/adverse effects , Hepatic Veno-Occlusive Disease/drug therapy , Hepatic Veno-Occlusive Disease/etiology , Lymphoma, B-Cell/therapy , Methylprednisolone/pharmacology , Adult , Humans , Liver/blood supply , Liver/diagnostic imaging , Male , Treatment Outcome , UltrasonographyABSTRACT
Graft-versus-host disease (GVHD) is a major complication of stem cell transplantation. Here we report a 40-year-old woman who developed an acute GVHD 30 months after transplantation. Late and very late appearance of acute GVHD has only been described in rare cases.
Subject(s)
Graft vs Host Disease/diagnosis , Hand Dermatoses/diagnosis , Hematopoietic Stem Cell Transplantation , Immunosuppressive Agents/administration & dosage , Leukemia, Myeloid, Acute/therapy , Adult , Diagnosis, Differential , Drug Administration Schedule , Female , Graft vs Host Disease/pathology , Hand Dermatoses/pathology , HumansABSTRACT
Haemophilia B is a X-linked recessive bleeding disorder with an incidence of 1:25,000-30,000 male birth. Usually female carriers are clinically normal. Phenotypic expression of the disease in female carriers is extremely rare. We describe cytogenetically inconspicuous female identical twins both with factor IX levels below 2%, prolonged bleeding after venipuncture as well as haematomas after intramuscular injections. The father, suffering from a severe haemophilia B, is deceased. By sequencing one point mutation was characterized in heterozygote condition in the factor IX gene of the probands at nt 17678. This mutation leads to the substitution cystein 88 to tyrosine in the growth factor domain of the factor IX. Investigation of the X-chromosomal inactivation by comparison of methylation patterns of genomic DNA at locus DXS255 after digestion with Pst I and Pst I +Hha I and hybridisation with the probe M27beta indicated a nonrandom pattern of X-chromosomal inactivation in the twins. In both girls, only the paternal X-chromosome was the active one leading to the phenotypic expression of haemophilia in the female carriers.
Subject(s)
Diseases in Twins/genetics , Dosage Compensation, Genetic , Factor IX/genetics , Hemophilia B/genetics , Point Mutation , X Chromosome/genetics , Blood Coagulation Tests , Child, Preschool , DNA Mutational Analysis , Female , Hemophilia B/blood , Hemophilia B/etiology , Heterozygote , Humans , Karyotyping , Pedigree , Phenotype , Twins, Monozygotic/geneticsABSTRACT
Hemophilia B is an X-linked bleeding disorder. We report on female twins, who were conspicious in prolonged bleeding after venipuncture as well as hematomas after intramuscular injections even in the first months of their life. Their father suffering from a severe hemophilia B deceased in 1992. Their mother, half-brother and grandmother from their father's side had no signs of bleeding disorders. Clotting analysis performed in both twins revealed a markedly prolonged partial thromboplastin time (> 100 s). The factor IX levels were below 2%. In order to detect mutations, a general screen using the polymerase chain reaction (PCR) followed by single strand conformation polymorphism (SSCP) analysis of the PCR products have been performed. PCR products have been cut into smaller fragments using restriction endonucleases (RE) for an in-depth SSCP screen. A general screen for gross abnormalities in the factor IX gene including deletions, insertions and rearrangements was performed by Southern blot analysis of RE-digests of genomic DNA using the factor IX cDNA as a hybridization probe. Furthermore, we screened for mutations in the CG dinucleotides comprising part of RE-recognition sequences (exon 1, 2, 3, 4, 5, and 8). By all methods applied herein, no mutations have been detected in these twins. On the basis of our results the hemophilia B of these twins might be explained by extreme non-random lyonization.
Subject(s)
Diseases in Twins , Factor IX/genetics , Hemophilia B/genetics , Child, Preschool , DNA, Single-Stranded , Dosage Compensation, Genetic , Female , Humans , Pedigree , Polymerase Chain Reaction , Polymorphism, Genetic , Polymorphism, Restriction Fragment LengthABSTRACT
In a 2 6/12-years-old girl a complete trisomy 22 was verified with the G-banding (CTG-technique). She presented with Pierre-Robin-Sequence, cardiac and renal malformations, craniofacial dysmorphia and psychomotoric retardation as it often occurs in trisomy 22. Additionally, we observed tonic-clonic seizures, remarkable dumbles on both elbows and a clavicular anomaly.