| Title |
Atypical erythroblastosis in a patient with Diamond–Blackfan anemia who developed del(20q) myelodysplasia
|
|---|---|
| Published in |
International Journal of Hematology, February 2018
|
| DOI | 10.1007/s12185-018-2424-4 |
| Pubmed ID | |
| Authors |
Motoshi Sonoda, Masataka Ishimura, Yuko Ichimiya, Eiko Terashi, Katsuhide Eguchi, Yasunari Sakai, Hidetoshi Takada, Asahito Hama, Hitoshi Kanno, Tsutomu Toki, Etsuro Ito, Shouichi Ohga |
| Abstract |
Diamond-Blackfan anemia (DBA) is a congenital red cell aplasia arising from ribosomal protein (RP) defects. Affected patients present with neonatal anemia, occasional dysmorphism, and cancer predisposition. An anemic newborn was diagnosed with DBA due to RPL5 mutation (c.473_474del, p.K158SfsX26). Refractory anemia required regular transfusions and iron chelation therapy. Pancytopenia occurred at age 16 years. Bone-marrow studies showed myelodysplasia, erythroblastosis, and clonal evolution of del(20)(q11.2q13.3). Severe anemia required transfusions. Del(20q), including the L3MBTL1 gene, is reported to be relevant to the hematological phenotype of Shwachman-Diamond syndrome. A combined defect of RPL5 and L3MBTL1 may contribute to the aberrant erythropoiesis in the present case. |
X Demographics
The data shown below were collected from the profiles of 3 X users who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United States | 1 | 33% |
| Unknown | 2 | 67% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 3 | 100% |
Mendeley readers
The data shown below were compiled from readership statistics for 28 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 28 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Other | 4 | 14% |
| Student > Master | 3 | 11% |
| Professor > Associate Professor | 2 | 7% |
| Student > Ph. D. Student | 2 | 7% |
| Librarian | 1 | 4% |
| Other | 3 | 11% |
| Unknown | 13 | 46% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 9 | 32% |
| Biochemistry, Genetics and Molecular Biology | 2 | 7% |
| Pharmacology, Toxicology and Pharmaceutical Science | 1 | 4% |
| Agricultural and Biological Sciences | 1 | 4% |
| Engineering | 1 | 4% |
| Other | 0 | 0% |
| Unknown | 14 | 50% |
Attention Score in Context
This research output has an Altmetric Attention Score of 2. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 07 September 2018.
All research outputs
#15,018,183
of 23,102,082 outputs
Outputs from International Journal of Hematology
#682
of 1,417 outputs
Outputs of similar age
#200,260
of 330,521 outputs
Outputs of similar age from International Journal of Hematology
#12
of 27 outputs
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We're also able to compare this research output to 27 others from the same source and published within six weeks on either side of this one. This one is in the 48th percentile – i.e., 48% of its contemporaries scored the same or lower than it.