Irish journal of medical science
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Review Case Reports
Treatment of a STAT5b::RARα positive case of APL in a patient not eligible for intensive chemotherapy.
Acute promyelocytic leukaemia (APL) with a STAT5b::RARα gene fusion is an extremely rare subtype of APL characterised by resistance to conventional therapies and extremely poor prognosis. This case highlights that whilst APL with variant RARα translocations are rare, they do pose significant challenges both diagnostically and in their clinical management. ⋯ Secondly, our patient represents, to the best of our knowledge, the first documented example of this rare disease that has been managed with, and shown sensitivity to low-dose cytarabine (LDAC) in combination with venetoclax (Ven). This case demonstrates that although treatment options are extremely limited for patients not eligible for intensive chemotherapy non-intensive options do show increasing promise.
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The Blood Cancer Network Ireland and National Cancer Registry Ireland worked to create an Enhanced Blood Cancer Outcomes Registry (EBCOR). Enhanced data in acute myeloid leukaemia (AML) included an extensive data dictionary, bespoke software and longitudinal follow-up. ⋯ Results suggest that the CCI provides no additional prognostic information beyond that obtained from age alone at AML diagnosis and that an EBCOR can provide a rich database for cancer outcomes research, including predictive models and resource allocation.
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The occurrence of Kidney Failure with Replacement Therapy (KFRT) amongst Irish Travellers has not been well described. This study aims to determine the burden of KFRT amongst the Irish Traveller population and identify determinants of health amongst this cohort which may differ from the general population in Ireland. ⋯ The Irish Traveller community have similar prevalence of KFRT when compared to the national prevalence, with a short time interval from diagnosis to commencement of KRT. They are less likely to avail of home therapies but have comparable wait times to the national waiting time to receive a kidney transplant.
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To compare clinical findings with MRI findings and evaluate the role of physical examination in the diagnosis, localization of the level, site, size, and type of lumbosacral disc herniation. ⋯ Proper correlation between clinical and MRI will help determine the lesion's level, horizontal location, herniation type, and herniated disc size in the lumbosacral region and achieve a more accurate diagnosis.
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Polycystic ovarian syndrome (PCOS), a gynae-endocrine disorder, has a relatively high risk of differential expression of miRNA (DE-miRNA) in the disease progression. ⋯ Identified, hub genes are known to associate with the regulation of ovarian function such as oocyte development, and steroid synthesis via the wnt signalling pathway.