Characteristics of Anemia in Elderly: A Hospital Based Study in South India

Anemia is a common concern in older people and can have significant morbidity and mortality. Because anemia is a sign, not a diagnosis, an evaluation is almost always warranted to identify the underlying cause. The purpose of this study was to study the clinical profile of elderly patients with anemia and to study characteristics of hematological types of anemia in such patients as well as the closest possible etiological profile. Hundred patients above the age of 60 years were included in the study. Clinical profile with laboratory studies of Hemoglobin and diagnostic tests to fix the etiology. Majority of patients had normocytic blood picture. Renal failure was the most common underlying chronic disease. Significant number of patients were on non steroidal anti-inflammatory drugs which could contribute to the anaemia. 14% of the patients had an underlying malignancy. 73.3% of the patients in the microcytic group had an underlying GI lesion on endoscopy. Identifying anemia as an important aspect of a comprehensive geriatric assessment is absolutely essential further to clinical detection. Confirming the type of anemia is critical to direct the investigation for profiling the etiology since it is well known that the treatment of anemia goes a long way in improving the overall outcome and quality of life

Colocalisation of predicted exonic splicing enhancers in BRCA2 with reported sequence variants

Disruption of the breast cancer susceptibility gene BRCA2 is associated with increased risk of developing breast and ovarian cancer. Over 1800 sequence changes in BRCA2 have been reported, although for many the pathogenicity is unclear. Classifying these changes remains a challenge, as they may disrupt regulatory sequences as well as the primary protein coding sequence. Sequence changes located in the splice site consensus sequences often disrupt splicing, however sequence changes located within exons are also able to alter splicing patterns. Unfortunately, the presence of these exonic splicing enhancers (ESEs) and the functional effect of variants within ESEs it is currently difficult to predict. We have previously developed a method of predicting which sequence changes within exons are likely to affect splicing, using BRCA1 as an example. In this paper, we have predicted ESEs in BRCA2 using the web-based tool ESEfinder and incorporated the same series of filters (increased threshold, 125 nt limit and evolutionary conservation of the motif) in order to identify predicted ESEs that are more likely to be functional. Initially 1114 ESEs were predicted for BRCA2, however after all the filters were included, this figure was reduced to 31, 3% of the original number of predicted ESEs. Reported unclassified sequence variants in BRCA2 were found to colocalise to 55% (17/31) of these conserved ESEs, while polymorphisms colocalised to 0 of the conserved ESEs. In summary, we have identified a subset of unclassified sequence variants in BRCA2 that may adversely affect splicing and thereby contribute to BRCA2 disruption