Introduction: In low-resource settings, anaemia is a very common condition. Identification of anaemia aetiologies remains challenging due to the lack of diagnostic tools and expertise. We aimed to improve anaemia diagnostics using peripheral blood smear (PBS) with remote interpretation in people living with HIV (PLHIV) with moderate to severe anaemia.
View Article and Find Full Text PDFPrimary familial and congenital polycythemia is a rare disease characterized by an increase in red cell mass that may be due to pathogenic variants in the EPO receptor () gene. To date, 33 genetic variants have been reported to be associated. We analyzed the presence of variants in two patients with polycythemia in whom pathogenic variants had been previously discarded.
View Article and Find Full Text PDFCytogenetic studies have played a crucial role in the discovery of genes involved in several diseases. In the field of oncohematology, cytogenetics is still necessary for the classification and prognosis of many diseases. Here we report a new recurrent chromosome translocation, t(10;12)(q24;q15), in two patients with different hematological malignancies: myelodysplastic syndrome with excess blasts (MDS-EB), and myelofibrosis (MF) secondary to essential thrombocythemia (ET).
View Article and Find Full Text PDFYoung onset dementia has become a growing challenge in national healthcare systems. Concerns about the situation have already been expressed; however, they mostly report the views of services end-users. Aimed at finding out useful further improvement, interviews documenting the working experiences of professionals addressing healthcare services to people with young onset dementia (YOD) were analysed qualitatively.
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