| 1. |
- Akram, Talia, et al.
(författare)
-
Aberrant splicing due to a novel RPS7 variant causes Diamond-Blackfan Anemia associated with spontaneous remission and meningocele
- 2020
-
Ingår i: International Journal of Hematology. - : Springer Science and Business Media LLC. - 0925-5710 .- 1865-3774. ; 112:6, s. 894-899
-
Tidskriftsartikel (refereegranskat)abstract
- Diamond-Blackfan Anemia (DBA) is a congenital pure red cell aplasia caused by heterozygous variants in ribosomal protein genes. The hematological features associated with DBA are highly variable and non-hematological abnormalities are common. We report herein on an affected mother and her daughter presenting with transfusion-dependent anemia. The mother showed mild physical abnormalities and entered spontaneous remission at age 13 years. Her daughter was born with occipital meningocele. Exome sequencing of DNA from the mother revealed a heterozygous novel splice site variant (NM_001011.4:c.508-3T > G) in the Ribosomal Protein S7 gene (RPS7) inherited by the daughter. Functional analysis of the RPS7 variant expressed from a mini-gene construct revealed that the exon 7 acceptor splice site was replaced by a cryptic splice resulting in a transcript missing 64 bp of exon 7 (p.Val170Serfs*8). Our study confirms a pathogenic effect of a novel RPS7 variant in DBA associated with spontaneous remission in the mother and meningocele in her daughter, thus adding to the genotype-phenotype correlations in DBA.
|
|
| 2. |
|
|
| 3. |
|
|
| 4. |
|
|
| 5. |
|
|
| 6. |
- Hedström, Gustav, et al.
(författare)
-
Low expression of microRNA-129-5p predicts poor clinical outcome in diffuse large B cell lymphoma (DLBCL)
- 2013
-
Ingår i: International Journal of Hematology. - : Springer Science and Business Media LLC. - 0925-5710 .- 1865-3774. ; 97:4, s. 465-471
-
Tidskriftsartikel (refereegranskat)abstract
- Diffuse large B cell lymphoma (DLBCL) is a heterogeneous group of B cell lymphomas. MicroRNA expression provides a new and interesting tool for understanding the biology and clinical course of DLBCL. The present study presents microRNA-129-5p expression data from DLBCL patients treated with CHOP or R-CHOP. Patients with low microRNA-129-5p expression had a median survival of 23 months and a significantly shorter overall survival (P = 0.0042) compared to patients with high microRNA-129-5p expression, who had a median survival of 58 months. We also found that patients treated with R-CHOP only and displaying low microRNA-129-5p expression had a significantly shorter overall survival compared to patients with high microRNA-129-5p expression; all such patients were still alive at the time of last follow-up (P = 0.043). No significant difference was found among microRNA-129-5p expression in tumor tissue, the tissue surrounding the tumor, and normal controls. To our knowledge, this is the first report to show that the expression of microRNA-129-5p can affect the clinical outcome of DLBCL patients and that microRNA-129-5p may be involved in the biology of DLBCL development, although larger studies are necessary to confirm this. Further investigations may also help to elucidate the biological role of microRNA-129-5p in DLBCL.
|
|
| 7. |
|
|
| 8. |
- Karlsson, Torbjörn
(författare)
-
Pathologic conditions associated with elevated plasma soluble transferrin receptor levels in elderly iron replete anemic patients
- 2010
-
Ingår i: International Journal of Hematology. - : Springer Science and Business Media LLC. - 0925-5710 .- 1865-3774. ; 91:4, s. 723-724
-
Tidskriftsartikel (refereegranskat)abstract
- Iron-deficiency anemia (IDA) in men and post-menopausal women is commonly caused by an imbalance between dietary iron absorption and blood loss via the gastrointestinal tract. In younger, otherwise healthy individuals IDA is accompanied by typical changes in the biochemical iron status, i.e. iron, ferritin and transferrin saturation (TSAT) are subnormal, whereas total iron binding capacity (TIBC) is increased [1]. In elderly anemic patients who may suffer from concurrent diseases, e.g. infections, inflammatory diseases or cancer, the biochemical iron status is often difficult to interpret since it is influenced by acute phase responses [2]. Anemia induced by an inflammatory response is commonly referred to as anemia of chronic disease (ACD) and characterized by a blockage of iron in the reticuloendothelial system. A bone marrow examination is often required to discriminate between IDA and ACD in elderly patients with concurrent diseases. IDA is characterized by the absence of stainable.
|
|
| 9. |
|
|
| 10. |
|
|
