1/23. Fludarabine-based stem cell transplantation protocol for Fanconi's anaemia in myelodysplastic transformation.Allogeneic stem cell transplantation (SCT) represents the treatment of choice for severe bone marrow (BM) failure in patients with Fanconi's anaemia (FA). However, for FA patients developing leukaemic or myelodysplastic transformation, the results of SCT are much less encouraging. We present a 17-year-old girl with myelodysplastic transformation of FA (refractory anaemia with excess blasts) and oculocutaneous albinism, who was treated by sibling SCT using conditioning with fludarabine, cyclophosphamide (CY) and anti-lymphocyte globulin (ALG). She had rapid engraftment with no toxicity and no graft-versus-host disease (GVHD). Twenty-two months after SCT, she had 100% donor chimaerism on Southern blot analysis.- - - - - - - - - - ranking = 1keywords = anaemia (Clic here for more details about this article) |
2/23. Identification of slide coagulase positive, tube coagulase negative staphylococcus aureus by 16S ribosomal rna gene sequencing.AIMS: To ascertain the clinical importance of a strain of slide coagulase positive but tube coagulase negative Staphylococcus species isolated from the blood culture of a 43 year old patient with refractory anaemia with excessive blasts in transformation who had neutropenic fever. methods: The isolate was investigated phenotypically by standard biochemical methods using conventional biochemical tests and two commercially available systems, the Vitek (GPI) and API (Staph) systems. Genotypically, the 16S ribosomal rna (rRNA) gene of the bacteria was amplified by the polymerase chain reaction (PCR) and sequenced. The sequence of the PCR product was compared with known 16S rRNA gene sequences in the GenBank by multiple sequence alignment. RESULTS: Conventional biochemical tests did not reveal a pattern resembling a known Staphylococcus species. The Vitek system (GPI) showed that it was 94% S. simulans and 3% S. haemolyticus, whereas the API system (Staph) showed that it was 86.8% S. aureus and 5.1% S. warneri. 16S rRNA gene sequencing showed that there was a 0 base difference between the isolate and S. aureus, 28 base difference between the isolate and S. lugdunensis, 39 base difference between the isolate and S. schleiferi, 21 base difference between the isolate and S. haemolyticus, 41 base difference between the isolate and S. simulans, and 23 base difference between the isolate and S. warneri, indicating that the isolate was a strain of S. aureus. vancomycin was subsequently prescribed and blood cultures taken four days after the start of treatment were negative. CONCLUSIONS: 16S rRNA gene sequencing was useful in ascertaining the clinical importance of the strain of slide coagulase positive but tube coagulase negative Staphylococcus species isolated from blood culture and allowing appropriate management.- - - - - - - - - - ranking = 0.16666666666667keywords = anaemia (Clic here for more details about this article) |
3/23. Hyperdiploid karyotype in a childhood MDS patient.We present a rare case of a paediatric myelodysplastic syndrome (MDS) with congenital anomalies (frontal bossing and premature closure of anterior fontanelle). The case showed the clinical and biological features of a refractory anaemia excess blasts (RAEB). Bone marrow (BM) cytogenetics demonstrated a hyperdiploid karyotype, with several numerical abnormalities and unidentified rearrangements. fluorescence in situ hybridization (FISH) using chromosome specific alpha-satellite and whole chromosome-specific painting probes verified the hyperdiploid karyotype, and confirmed the origin of the unknown markers and rearrangements more reliably than would be possible using conventional cytogenetic techniques.- - - - - - - - - - ranking = 0.16666666666667keywords = anaemia (Clic here for more details about this article) |
4/23. Secondary acute myeloid leukaemia with monosomy 7 in identical adult twins.We report the development of secondary acute myeloid leukaemia (AML) with monosomy 7 in identical twins, both at the age of 52 years. In the first twin, induction therapy resulted in complete remission (CR). At relapse 9 months later monosomy 7 was found. The patient died of sepsis 11 months after diagnosis. The other twin presented with leucopenia and thrombocytopenia and refractory anaemia (RA) was diagnosed. During follow-up, fluorescence in situ hybridization analysis demonstrated a monosomy 7 in 11% of the cells. Twenty-eight months following diagnosis the patient progressed to RA with excess blasts in transformation and induction chemotherapy was initiated without achieving CR. Three months later an allogeneic stem cell transplantation from a niece was performed, resulting in CR of the secondary AML.- - - - - - - - - - ranking = 0.16666666666667keywords = anaemia (Clic here for more details about this article) |
5/23. remission induction of refractory anaemia with excess blasts in transformation by sole treatment with granulocyte colony-stimulating factor with persistent chromosomal abnormality.We report a patient with myelodysplastic syndrome (MDS), refractory anaemia with excess blasts in transformation, in whom complete remission (CR) was achieved with the administration of granulocyte colony-stimulating factor (G-CSF). The 76-year-old patient was admitted to our hospital with a fever and a productive cough; a diagnosis of pneumonia was thus made. Following treatment with antibiotics, the patient's condition improved, and MDS was diagnosed from peripheral blood and bone marrow examinations after the patient recovered from the infection. The patient achieved a sustained haematological CR that was confirmed by morphological and flow cytometric examination after treatment with G-CSF alone, although chromosomal abnormalities persisted. According to the literature, in almost all patients with acute myeloid leukaemia or MDS who were reported to achieve CR by G-CSF, the course was associated with infection, although our case did not have this complication during the course of G-CSF therapy. We suggest that patients with G-CSF alone without infection can achieve CR and that this may be related to a differentiation effect of G-CSF based on persistent chromosomal abnormality in this case.- - - - - - - - - - ranking = 0.83333333333333keywords = anaemia (Clic here for more details about this article) |
6/23. Refractory anaemia with excess blasts (RAEB) in a child--an unusual clinicohaematological presentation--a case report.Myelodysplastic syndrome (MDS) is a disease of elderly patients but, rarely can be encountered in pediatric age group. The present case of MDS (RAEB subtype) was reported in a child who presented with proptosis and unique and rare feature of haemophagocytosis by myeloid series of cells.- - - - - - - - - - ranking = 0.66666666666667keywords = anaemia (Clic here for more details about this article) |
7/23. Chromosome 11 rearrangements and specific MLL amplification revealed by spectral karyotyping in a patient with refractory anaemia with excess of blasts (RAEB).A patient with refractory anaemia with excess of blasts (RAEB) had a complex karyotype with multiple markers. spectral karyotyping (SKY) showed rearrangements including three different der(11), containing a very high number of MLL gene copies, shown by fluorescence in situ hybridization (FISH) analysis. Fibre-FISH experiments disclosed the presence of chromatin fibres with multiple MLL copies with a head-to-tail pattern. Apparently, no other region flanking the MLL site was present in the three der(11). MLL amplification was confirmed by the reverse transcription polymerase chain reaction (RT-PCR). The patient died 6 months after diagnosis, supporting the severe prognosis of sole MLL amplification.- - - - - - - - - - ranking = 0.83333333333333keywords = anaemia (Clic here for more details about this article) |
8/23. A case of monocytic leukaemia cutis in a patient with myelodysplastic syndrome transforming to acute myeloid leukaemia.A 49-year-old woman presented with a 1-year-history of a widespread eruption which proved to be due to leukaemia cutis. Subsequently, she developed pancytopaenia and a bone marrow biopsy revealed refractory anaemia with excess blasts in transformation (RAEB-T) with a high monoblastic component. This transformed into acute myeloid leukaemia. Leukaemia cutis in this context is well described but in this patient it became manifest 1 year prior to referral to the dermatologist. When occurring with a myelodysplastic syndrome, leukaemia cutis often heralds malignant transformation to acute myeloid leukaemia. Prompt diagnosis in this situation may identify a group of high-risk patients with myelodysplastic syndrome for whom chemotherapy and allogenic bone marrow transplantation, rather than the more conventional approach of supportive treatment, could be a more appropriate management strategy.- - - - - - - - - - ranking = 0.16666666666667keywords = anaemia (Clic here for more details about this article) |
9/23. Myelodysplastic syndrome with erythroid hypoplasia: a rare and distinct clincopathological entity--a report of two cases.Erythroid hypoplasia in myelodysplastic syndrome (MDS) happens to be a rare association and is being recognized as a distinct clinico pathological entity. We report here two such cases diagnosed as Refractory anaemia (RA) and Refractory anaemia with excess blast (RAEB) who had marked suppression of the erythroid cell lines. Both patients presented with severe transfusion dependent anaemia. Recognition of these cases is important as alternative modalities of treatment such as immunosuppressives may be considered for these patients.- - - - - - - - - - ranking = 0.5keywords = anaemia (Clic here for more details about this article) |
10/23. xeroderma pigmentosum and refractory anaemia in two first cousins.We report two first cousins with xeroderma pigmentosum who developed a refractory anaemia with excess of blasts which resulted in their deaths.- - - - - - - - - - ranking = 0.83333333333333keywords = anaemia (Clic here for more details about this article) |
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