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PubMed2006

Diamond blackfan anemia: New paradigms for a "not so pure" inherited red cell aplasia.

Diamond Blackfan anemia (DBA) is a genetically and clinically heterogeneous disorder characterized by erythroid failure, congenital anomalies, and a predisposition to cancer. Faulty ribosome biogenesis is hypothesized to be the underlying defect, leading to erythroid failure due to accelerated apoptosis in affected erythroid progenitors/precursors. Since first observed in DBA, pro-apoptotic hematopoiesis has been recognized as a common mechanism for hematopoietic failure in virtually all of the inherited bone marrow failure syndromes. Inherited as an autosomal dominant trait, one of what appears to be multiple DBA genes, coding for ribosomal protein RPS19, has been cloned. The discovery of additional genes will no doubt clarify the molecular pathophysiology of this disorder. Even within families, individuals may vary dramatically as to the degree of anemia, treatment response, and the presence of congenital anomalies. The study of DBA has been facilitated by the creation of international patient registries that provide more reliable information regarding clinical presentation, genetics, and outcome, as well as descriptions of congenital malformations and cancer predisposition, than can be culled from the literature. Analysis of registry data has led to improvements in clinical care and provides patients and research specimens for clinical and laboratory investigations.

Anemia, Diamond-Blackfan↗
PubMed2003

Fetal Diamond-Blackfan anemia associated with hydrops fetalis.

We present a case of fetal Diamond-Blackfan anemia (DBA) associated with hydrops fetalis and review the current literature focusing on the pathophysiology and presentation of DBA. We conclude that DBA should be considered as a possible etiology for fetal anemia even in the absence of a family history of anemia.

Anemia, Diamond-Blackfan↗
PubMed2006

Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemia.

Diamond-Blackfan anemia (DBA) is a rare congenital red-cell aplasia characterized by anemia, bone-marrow erythroblastopenia, and congenital anomalies and is associated with heterozygous mutations in the ribosomal protein (RP) S19 gene (RPS19) in approximately 25% of probands. We report identification of de novo nonsense and splice-site mutations in another RP, RPS24 (encoded by RPS24 [10q22-q23]) in approximately 2% of RPS19 mutation-negative probands. This finding strongly suggests that DBA is a disorder of ribosome synthesis and that mutations in other RP or associated genes that lead to disrupted ribosomal biogenesis and/or function may also cause DBA.

Alternative Splicing↗
PubMed1987

Synthetic diamonds as ionisation chamber radiation detectors in biological environments.

Synthetic diamonds with nitrogen concentrations higher than previously reported in the literature are found to operate very effectively as alpha-particle detectors, as well as detectors for gamma radiation, when operated as ionisation chambers. Certain of the specimens exhibited extensive linear response characteristics when subjected to either alpha particles or gamma radiation of various dose rates. For alpha particles, the response of the detectors at constant particle flux was also found to increase linearly with increasing alpha-particle energy. Unlike previously reported investigations, however, the variation in the response of the synthetic stones to gamma radiation as a function of time was found to be not only more rapid but also to be virtually unaffected by illumination with intense white light.

Alpha Particles↗
PubMed2002

Comparison of TG-43 dose calculations to pinpoint ion chamber and diamond detector measurements.

Brachytherapy is an area of radiation therapy where the availability of high-resolution detectors with a low energy-dependence is of great importance. The suitability of two detectors is investigated in this study. Measurements in the proximity of an Ir-192 source were performed with a diamond detector type 60003 and a pinpoint chamber type 31006 (both PTW-Freiburg). For comparison, dose values were calculated with the dose calculation formalism recommended by the task group 43 (Nath et al 1995 Med. Phys. 22 209-34).

Brachytherapy↗
PubMed2006

Kerma rate effects on thermoluminescent response of CVD diamond.

The thermoluminescence (TL) response of chemical vapour deposition diamond is studied after X-irradiation (45 kV) at room temperature for various air kerma rates ranging from 0.7 to 100 Gy.min(-1). For a given air kerma, the TL signal as a function of air kerma rate exhibits large variations and is higher for low air kerma rates than for higher ones. In order to explain these results, the simplest energy-level scheme has been considered, that is, with only one electron trap and one recombination centre. Kinetic equations are numerically solved. Calculations are made for various electron-hole generation rates and show that the trap filling as a function of electron-hole generation rate follows, actually, the same evolution as the one of experimental TL response. The kerma rate effect on TL response is explained by the competitivity between the recombination and the trapping processes during irradiation.

Air↗
PubMed2006

The electron energy dependence of the TL response for CVD diamonds.

The thermoluminescent (TL) response of CVD diamond is investigated after bombarding a sample with monoenergetic electrons (at 6 and 21 MeV). Irradiations are performed at room temperature with a medical linear electron accelerator PRIMUS (KD2-Siemens). The TL curve shows a peak at approximately 540 K. The area of this peak as a function of fluence exhibits saturation behaviour at high energies. Moreover, there is no significant difference between the TL response at 21 MeV electrons and that at 6 MeV. In order to explain these experimental results, calculations of the ionising dose have been performed with the code MCNPX (Monte Carlo N-Particle) for various incident energies from 0.1 MeV up to 100 MeV.

Computer Simulation↗
PubMed2004

Familial Diamond-Blackfan anemia. Case reports and a review of the related literature.

We present the case of three sisters with Diamond-Blackfan anemia (DBA) from a consanguineous marriage. These sisters presented within the first 2 months of age with anemia without hepatosplenomegaly together with complete blood count and bone marrow pictures compatible with the diagnosis of DBA syndrome. They were given blood transfusions and then started on prednisolone 2 mg/kg/day in divided doses, tapering the dose to a minimum to keep Hb around 90 g/l. DBA in these three sisters from a consanguineous marriage clearly illustrates the autosomal recessive mode of inheritance. The importance of early diagnosis and management with steroid is highlighted along with the need for consideration of other modalities of treatment in those cases not responding to steroid therapy.

Anemia, Diamond-Blackfan↗
PubMedDate not supplied

Living with Diamond Blackfan anemia: a challenge toward survival.

As the world of medicine and nursing advance, children with once terminal childhood diseases are now surviving into young adulthood. Nurses must learn to care for pediatric patients who transition to adulthood. This article explores Diamond Blackfan Anemia, once considered a terminal childhood disease that can now be a disease of young adulthood.

Adult↗
PubMed2003

Sustained cyclosporine-induced erythropoietic response in identical male twins with diamond-blackfan anemia.

After failing a trial of corticosteroid therapy, molecularly proven identical twins were treated for transfusion-dependent Diamond-Blackfan anemia with cyclosporine A, resulting in a robust erythropoietic response and a reversal of anemia. Clonogenic assays of marrow hematopoietic progenitors from both patients showed exuberant growth of BFU-E colonies but absent CFU-E. Clinically, the response has been sustained, and both patients have continued cyclosporine therapy and have been transfusion-independent for more than 27 months.

Anemia, Diamond-Blackfan↗
PubMed2006

Reduced gene expression of clustered ribosomal proteins in Diamond-Blackfan anemia patients without RPS19 gene mutations.

Diamond-Blackfan anemia (DBA) is a rare congenital pure red cell aplasia occasionally presenting physical anomalies. Ribosomal protein S19 gene (RPS19) is one of the causative genes for DBA; however, the pathologic mechanism of erythroblastopenia and abnormal morphology has not been clarified. To assess the pathophysiology of DBA, the gene expression profile of 2 representative patients carrying no RPS19 mutations was compared with that of aplastic anemia (AA) patients, assessed by the microarray analyses. The K-mean clustering analysis revealed the significant categorization of 28 ribosomal protein (RP) genes into a small set of group (994 genes) (P=2.39E-17), all of which were expressed at lower levels in DBA than in AA patients. RPS19 was categorized into the set of low expressing genes in DBA patients. No mutations were determined in the promoter and coding sequences of top 10 RP genes expressed at the levels over 1.2 of the AA/DBA ratio, in 3 DBA patients. These results indicated that the lower expression of RP gene group, even without the mutation, was a distinctive feature of DBA from AA, although the study number was small. The reduced RP gene expression, by itself, may suggest an underlying mechanism of the constitutional anemia.

Adult↗
PubMed2005

A novel method for creating endodontic access preparations through all-ceramic restorations: air abrasion and its effect relative to diamond and carbide bur use.

Access through porcelain restorations is a technically delicate and stressful procedure. Although this is a common dilemma in endodontics, little research has explored alternatives in cutting through porcelain. The purpose of this study was to compare the use of a carbide bur plus water, diamond bur plus water, and air abrasion to access through porcelain. All-ceramic samples were accessed using the different techniques. Samples were evaluated using two transillumination methods, white light, and fluorescent liquid penetrant described by the American Society for Testing and Materials. Edge chipping, microcracking, and catastrophic fracture of porcelain caused by the techniques were statistically compared. Fluorescent liquid penetrant was a more sensitive method for microcrack detection. There were significant differences between the preparation techniques. Air abrasion was significantly less destructive, and caused no catastrophic fractures, edge chipping or microcracks. Preparation by air abrasion took longer to complete.

Air Abrasion, Dental↗
PubMed2006

Hodgkin lymphoma in a child with Diamond Blackfan anemia.

Diamond Blackfan anemia (DBA) is a rare disease characterized by aplasia or hypoplasia of erythroid lineage. Normochromic, usually macrocytic, but occasionally normocytic anemia and reticulocytopenia are characteristic findings of DBA. DBA is associated with an increased risk of malignancy. Most of the reported malignancies are acute myeloid leukemia. Solid tumors including hepatocellular carcinoma and osteosarcoma have also been identified. We could find 29 reported cases with DBA and malignancy. Two of them were diagnosed as Hodgkin lymphoma at 15 and 23 years, respectively. Here we report a 7-year-old boy with DBA who developed Hodgkin disease.

Anemia, Diamond-Blackfan↗
PubMed2004

Raman spectroscopy of amorphous, nanostructured, diamond-like carbon, and nanodiamond.

Raman spectroscopy is a standard characterization technique for any carbon system. Here we review the Raman spectra of amorphous, nanostructured, diamond-like carbon and nanodiamond. We show how to use resonant Raman spectroscopy to determine structure and composition of carbon films with and without nitrogen. The measured spectra change with varying excitation energy. By visible and ultraviolet excitation measurements, the G peak dispersion can be derived and correlated with key parameters, such as density, sp(3) content, elastic constants and chemical composition. We then discuss the assignment of the peaks at 1150 and 1480 cm(-1) often observed in nanodiamond. We review the resonant Raman, isotope substitution and annealing experiments, which lead to the assignment of these peaks to trans-polyacetylene.

Acetylene↗
PubMed2004

Diamond Blackfan anaemia in the UK: clinical and genetic heterogeneity.

A detailed family study was undertaken of patients notified to the UK Diamond Blackfan Anaemia (DBA) Registry. RPS19 mutations were detected in 16 of 104 families, including two patients with deletions detected by intragenic loss of heterozygosity of tightly linked polymorphisms. In two further cases, polymorphisms were used to determine the parental allele of origin of RPS19 point mutations. A review of clinical details of patients with mutations and patients in the literature having identical or equivalent mutations revealed evidence for a genotype:phenotype correlation with respect to the prevalence of physical anomalies, and the occurrence of mild or variable haematological severity. Nine of 60 patients had a known family history of DBA. Haematological abnormalities, including raised red cell adenosine deaminase activity, were found in first-degree relatives of 16 of 51 (31%) of patients not previously considered to have familial DBA. Results of both parents and any siblings were normal in only 35 of 60 (58%) of cases, who were therefore assumed to have sporadic de novo DBA. The classical inheritance pattern for DBA is autosomal dominant; however, 12 of 60 families (20%) had more than one affected child despite normal results in both parents. These results have important implications for genetic counselling, and for the selection of potential sibling bone marrow donors.

Adult↗
PubMed2004

RNA and protein evidence for haplo-insufficiency in Diamond-Blackfan anaemia patients with RPS19 mutations.

The genetic basis of Diamond-Blackfan anaemia (DBA), a congenital erythroid hypoplasia that shows marked clinical heterogeneity, remains obscure. However, the fact that nearly one-quarter of patients harbour a variety of mutations in RPS19, a ribosomal protein gene, provides an opportunity to examine whether haplo-insufficiency of RPS19 protein can be demonstrated in certain cases. To that end, we identified 19 of 81 DBA index cases, both familial and sporadic, with RPS19 mutations. We found 14 distinct insertions, deletions, missense, nonsense and splice site mutations in the 19 probands, and studied mutations in 10 patients at the RNA level and in three patients at the protein level. Characterization of the mutations in 10 probands, including six with novel insertions, nonsense and splice site mutations, showed that the abnormal transcript was detectable in nine cases. The RPS19 mRNA and protein in CD34+ bone marrow cells identified haplo-insufficiency in three cases predicted to have one functional allele. Our data support the notion that, in addition to rare DBA patients with the deletion of one allele, the disease in certain other RPS19 mutant patients is because of RPS19 protein haplo-insufficiency.

Anemia, Diamond-Blackfan↗
PubMed2006

Recent insights into the pathogenesis of Diamond-Blackfan anaemia.

Diamond-Blackfan anaemia (DBA) is a congenital anaemia and broad developmental disease that develops soon after birth. The anaemia is due to failure of erythropoiesis, with normal platelet and myeloid lineages, and it can be managed with steroids, blood transfusions, or stem cell transplantation. Normal erythropoiesis after transplantation shows that the defect is intrinsic to an erythroid precursor. DBA is inherited in about 10-20% of cases, and genetic studies have identified mutations in a ribosomal protein gene, RPS19, in 25% of cases; there is evidence for involvement of at least two other genes. In yeast, RPS19 deletion leads to a block in ribosomal RNA biogenesis. The critical question is how mutations in RPS19 lead to the failure of proliferation and differentiation of erythroid progenitors. While this question has not yet been answered, understanding the biology of DBA may provide insight not only into the defect in erythropoisis, but also into the other developmental abnormalities that are present in about 40% of patients, and into the cancer predisposition that is inherent to DBA.

Anemia, Diamond-Blackfan↗
PubMed2005

Use of rituximab to treat refractory Diamond-Blackfan anemia.

We report here the first case with Diamond-Blackfan anemia (DBA) who responded to rituximab. The patient is an 8-yr-old Japanese girl with refractory DBA accompanied by complex congenital heart disease. She received two doses of rituximab, 375 mg/m(2)/wk. She became transfusion independent 6 months after the treatment without any serious side effect. However, after 8 months of transfusion-free period, her condition returned to the pretreatment level with recovery of peripheral B cells. Rituximab may be a successful therapy for refractory DBA where B cells play a crucial role in the pathogenesis of the severe anemia.

Anemia, Diamond-Blackfan↗