Dataset Information

Implication of therapeutic outcomes associated with molecular characterization of paediatric aplastic anaemia.

ABSTRACT:

Objectives

Severe aplastic anemia is characterized by a hypocellular bone marrow and peripheral cytopenia. Mesenchymal stem cells (MSCs) play a crucial role in haematopoietic stem cells (HSCs) development and the development of microenvironment suitable for hematopoiesis. Molecular characterization of telomere maintenance pathway and gene expression profiling of MSCs can be important for the therapeutic interventions among paediatric aplastic anaemia patients.

Methods

The study involved paediatric aplastic anaemia patients (n = 10) and age matched paediatric healthy donors (n = 8). Peripheral blood samples were collected from the individuals. Average leucocyte telomere length and gene expression of the telomere maintenance genes were determined by quantitative real time PCR. Microarray based gene expression profiles (GSE33812) of MSCs for five paediatric aplastic anaemia patients were analyzed compared to five healthy controls and the data was downloaded from the GEO database.

Results

The telomere length was significantly shorter among paediatric AA patients compared to age matched healthy donors. Interestingly, one subgroup (n = 2) of paediatric AA patients has moderate telomere length comparable to age matched healthy donors. Based on the gene expression analysis of telomere maintenance pathway, TERF2 was significantly downregulated among paediatric patients with shorter telomere length but not among paediatric patients with moderate telomere length. Gene expression profiling of MSCs revealed three differentially expressed genes (GAS2L3, MK167 and TMSB15A) among the patients and was associated with therapeutic outcome.

Conclusion

Telomere length estimation and gene expression patterns of the MSCs and telomere length maintenance pathway may serve as a potential biomarker and could be associated with therapeutic choice of paediatric aplastic anaemia patients.

SUBMITTER: Adhikari S

PROVIDER: S-EPMC7809188 | biostudies-literature | 2021 Mar

REPOSITORIES: biostudies-literature

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Publications

Implication of therapeutic outcomes associated with molecular characterization of paediatric aplastic anaemia.

Adhikari Sarmistha S Nayek Kaustav K Bandyopadhyay Arghya A Mandal Paramita P

Biochemistry and biophysics reports 20210109

<h4>Objectives</h4>Severe aplastic anemia is characterized by a hypocellular bone marrow and peripheral cytopenia. Mesenchymal stem cells (MSCs) play a crucial role in haematopoietic stem cells (HSCs) development and the development of microenvironment suitable for hematopoiesis. Molecular characterization of telomere maintenance pathway and gene expression profiling of MSCs can be important for the therapeutic interventions among paediatric aplastic anaemia patients.<h4>Methods</h4>The study in ...[more]

PMID: 33490648

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Project description:BackgroundSevere anaemia remains a major cause of morbidity and mortality among children in sub-Saharan Africa. There is limited research on the beliefs and knowledge for paediatric severe anaemia in the region. The effect of these local beliefs and knowledge on the healthcare seeking of paediatric severe anaemia remains unknown.ObjectiveTo describe community perceptions of paediatric severe anaemia in Uganda.MethodsSixteen in-depth interviews of caregivers of children treated for severe anaemia and six focus group discussions of community members were conducted in three regions of Uganda between October and November 2017.ResultsThere was no common local name used to describe paediatric severe anaemia, but the disease was understood in context as 'having no blood'. Severe anaemia was identified to be a serious disease and the majority felt blood transfusion was the ideal treatment, but concomitant use of traditional and home remedies was also widespread. Participants articulated signs of severe pediatric anemia, such as palmar, conjunctival, and tongue pallor. Other signs described included jaundice, splenomegaly, difficulty in breathing and poor appetite. Poor feeding, malaria, splenomegaly and evil spirits were perceived to be the common causes of severe anaemia. Other causes included: human immunodeficiency virus (HIV), haemoglobinuria, fever, witchcraft, mosquito bites, and sickle cell. Splenomegaly and jaundice were perceived to be both signs and causes of severe anaemia. Severe anaemia was interpreted to be caused by evil spirits if it was either recurrent, led to sudden death, or manifested with cold extremities.ConclusionThe community in Uganda perceived paediatric severe anaemia as a serious disease. Their understanding of the signs and perceived causes of severe anaemia to a large extent aligned with known clinical signs and biological causes. Belief in evil spirits persists and may be one obstacle to seeking timely medical care for paediatric severe anaemia.

Dataset Information

Implication of therapeutic outcomes associated with molecular characterization of paediatric aplastic anaemia.

Objectives

Methods

Results

Conclusion

Publications

Implication of therapeutic outcomes associated with molecular characterization of paediatric aplastic anaemia.

Similar Datasets

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