Irish journal of medical science
-
Angular deformity in the lower extremity can result in pain, gait disturbance, cosmetic deformity and joint degeneration. Up until the introduction of guided growth, which has since become the widely accepted treatment for frontal plane angular angular deformity around the knee in skeletally immature patients, treatment consisted of staples, corrective osteotomy or an angular epiphysiodesis. Guided growth modulation uses the tension band principle with the goal of treatment being to normalise the lower limb mechanical axis resulting in lower morbidity than previous treatments. In order to assess the success of this procedure we reviewed our results in an attempt to identify patients who may not benefit from this elegant procedure. ⋯ Level III, retrospective cohort study.
-
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.
-
Male urethral stricture affects 100 in 100,000 men. These are investigated using uroflowmetry, retrograde urethrography and cystourethroscopy. Management is usually endoscopic with urethral dilation or direct visual internal urethrotomy, although they have high failure rates. It is now recommended that urethroplasty is performed earlier. In this study we have reviewed a single surgeons experience with urethroplasty and patient outcomes. ⋯ The most popular techniques for urethroplasty in the UK are augmentation urethroplasty using a buccal mucosal graft and anastomotic urethroplasty, both of which we describe. There are variations in what is deemed as successful surgery. The most widely used definition is 'the lack of need for any further operative intervention'. We have recently adopted Patient Reported Outcome Measures using a validated questionnaire to measure the patients perception of a successful outcome. Complex strictures have a higher incidence of complications. 42% of our cohort were complex and we describe results comparable to the published literature.
-
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.
-
Decompressive craniectomies (DCs) are recommended for the treatment of raised intracranial pressure after acute ischaemic stroke. Some studies have demonstrated improved outcomes with early decompressive craniectomy (< 48 h from onset) in patients with malignant cerebral oedema following middle cerebral artery infarction. Limited data is available on suboccipital decompressive craniectomy after cerebellar infarction. ⋯ In this single-centre retrospective study, we found no significant difference in functional outcomes between patients who had early or late DC after ischaemic stroke.