Irish journal of medical science
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Myeloproliferative neoplasms (MPNs) are a group of chronic disorders of the bone marrow characterised by the overproduction of clonal myeloid stem cells. The most common driver mutation found in MPNs is a point mutation on exon 14 of the JAK2 gene, JAK2V617F. Various studies have suggested that measuring the variable allele frequency (VAF) of JAK2V617F may provide useful insight regarding diagnosis, treatment, risks and outcomes in MPN patients. In particular, JAK2V617F has been associated with increased risk of thrombotic events, a leading cause of mortality in MPNs. ⋯ We have shown that a higher JAK2V617F VAF is associated with thrombotic events post MPN diagnosis. JAK2V617F VAF may therefore provide a valuable prognostic indicator for risk of thrombosis in MPNs.
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Loss of shoulder range of motion (ROM) is common after surgical management of anterior shoulder instability; however, it remains unclear to what degree this is related to their injury. ⋯ Patients with anterior shoulder instability lost motion in all directions, with a profound loss of external rotation. The presence of a glenoid bone defect nor greater bone loss did not reliably predict a loss of range of motion. A Hill-Sachs lesion was predictive of a loss of external rotation, while an off-track lesion was predictive of a loss of range in all directions.
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Approximately 1 in 5 patients with autosomal dominant polycystic kidney disease (ADPKD) will undergo a native nephrectomy in their lifetime. These can be emergent or planned and the indications can range from space for kidney transplant, pain, hematuria and frequent urinary tract infections (UTIs). Due to the diverse nature of presentations, there is a lack of certainty about outcomes and optimal management. ⋯ In conclusion, this study demonstrates that native nephrectomy remains a safe operation for patients with ADPKD. Although further research is needed into, transfusion protocols, adjunctive therapies, such as TAE and research into timing of nephrectomy are still needed.
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Osteoarthritis is a chronic degenerative disorder with rising prevalence. Early detection of structural damage is difficult. Consequently, there is a pressing demand for reliable biomarkers that enable an earlier diagnosis of osteoarthritis. The aim is to investigate the level of serum fibulin-3 in patients with primary knee osteoarthritis and its correlation with disease severity. ⋯ Serum levels of fibulin-3 can act as diagnostic markers for OA and may be useful in determining the severity of knee osteoarthritis.