Irish journal of medical science
-
Limb-girdle muscular dystrophies constitute a heterogeneous group of neuromuscular diseases, both clinically and genetically. Limb-girdle muscular dystrophy by alpha-sarcoglycan deficiency or LGMD R3 α-sarcoglycan-related is a subtype of the autosomal recessive sarcoglycanopathies caused by variants in the alpha-sarcoglycan gene (SGCA) at 17q21.33. It appears in childhood by progressive weakness of pelvic and/or scapular girdle muscles and calf hypertrophy, with a wide range of clinical inter- and intra-familial clinical variability. ⋯ Our results expand the spectrum of variants in Moroccan patients with sarcoglycanopathy, specifically LGMDR3, most importantly as this form is not common in the Moroccan population.
-
Review Meta Analysis
Injury incidence in golf-a systematic review and meta-analysis.
There is a lack of comprehensive analysis of injuries in golf per exposure time. Thus, the aim was to report the pooled incidence of injuries in golf. ⋯ The injury incidence in golf is 2.5 injuries per 1000 athlete exposures (18 holes of golf). Reporting was limited as only one study reported injuries per exposure time in professionals, and in total, only seven studies were found. More research is needed in all levels and age groups to better estimate the injury incidence and associated risk factors in golf.
-
Review Meta Analysis
Risk of locoregional recurrence after breast cancer surgery by molecular subtype-a systematic review and network meta-analysis.
The prevention of locoregional recurrence (LRR) is crucial in breast cancer, as it translates directly into reduced breast cancer-related death. Breast cancer is subclassified into distinct intrinsic biological subtypes with varying clinical outcomes. ⋯ TNBC and HER2 subtypes are associated with the highest risk of LRR. Multidisciplinary team discussions should consider these findings to optimize locoregional control following breast cancer surgery.
-
Ireland's Mental Health Bill 2024 proposes the most significant revision of mental health legislation since the Mental Health Act 2001. ⋯ The 2024 Bill proposes useful changes but requires revision, especially for involuntary patients who lack decision-making capacity and decline care, for whom the Assisted Decision-Making (Capacity) Act 2015 does not (and was not designed to) provide solutions. Relying on a convoluted combination of the 2015 Act, Circuit Court and High Court would be legally impossible, clinically impracticable and de facto denial of the rights of people with serious mental illness and their families. The final Act can accord with principles of the 2015 Act without relying on its provisions and should benefit patients and support staff in delivering mental health care that is essential and often life-saving.
-
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.