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AimThe mechanisms of cardiac dysfunction in limb girdle muscular dystrophy 2I (LGMD2I) are unclear. This study assessed deficits in cardiac morphology, function, and metabolism quantitatively in patients with a confirmed genetic diagnosis of the homozygous c.826C . A FKRP (fukutin-related protein) mutation, using a comprehensive magnetic resonance (MR) examination. Methods and resultsTen patients (7 male and 3 female) and 10 matched control subjects were recruited prospectively. Cardiac morphology by cine imaging, cardiac torsion and strain by MR tagging, and cardiac energetics by phosphorus-31 MR spectroscopy were measured. LGMD2I subjects were found to have a significant reduction in peak cardiac torsion (3.9 + 1.38 vs. 6.4 + 1.58, P ¼ 0.04), and in the ratio of torsion to endocardial strain (0.31 + 0.05 vs. 0.51 + 0.14, P ¼ 0.03), compared with control subjects. The impairment in torsion correlated strongly with reduction in EF (r ¼ 0.93, P , 0.001). Peak circumferential and longitudinal strains were preserved in the patients, however [LGMD2I, 16.4 + 3.2% vs. 18.3 + 3.5%, non-significant (NS); and LGMD2I, 17.0 + 3.0% vs. 18.4 + 3.5%, NS]. Cardiac cine analysis demonstrated reduced EF (47 + 7% vs, 58 + 4%, P ¼ 0.02) and stroke volume (61 + 11 mL vs. 81 + 13 mL, P ¼ 0.04), though no evidence of LV hypertrophy was found. The ratio of phosphocreatine to ATP (PCr/ATP) was reduced in the LGMD2I subjects compared with controls (1.50 + 0.24 vs. 1.94 + 0.12, P ¼ 0.0001). ConclusionsThe loss of torsion with preservation of circumferential and longitudinal strain in LGMD2I is a unique finding and suggests subepicardial dysfunction with abnormal transmission of force across the cardiac wall.--

Background T ranssphenoidal surgery (TSS) is the standard approach for resection of pituitary lesions. Historically, this has utilized the microscopic approach (mTSS); however, the past decade has seen widespread uptake of the endoscopic approach (eTSS). The purported benefits of this include improved visualization and illumination, resulting in improved surgical and endocrinological patient outcomes. It is also believed that eTSS results in fewer post-operative nasal symptoms compared to mTSS; however, few papers have directly compared these groups. Objectives We sought to compare nasal symptoms after endoscopic uninostril (eTSS-uni), endoscopic binostril (eTSS-bi) and microscopic endoscopic transsphenoidal surgery (mTSS). Methods The General Nasal Patient Inventory (GNPI) was prospectively administered to 136 patients (71 non-functioning adenomas, 26 functioning adenomas, 39 other pathology) undergoing transsphenoidal surgery at multiple time points (pre-operatively; days 1, 3 and 7–14; months 1, 3 and 6 and 1 year post-operatively). All surgeries were performed by subspecialist pituitary surgeons in three subgroups — mTSS (25), eTSS-uni (74) and eTSS-bi (37). The total GNPI scores (0–135) and subscores for the 45 individual components were compared across three groups assessing for temporal and absolute changes. Results Irrespective of surgical approach used, GNPI scores were significantly higher on post-operative day 1 (p < 0.001) and day 3 (p ≤ 0.03) compared to pre-treatment baseline (mixed-effects model). By 1 month post-operatively, however, post-operative GNPI scores were no different from pre-treatment (p > 0.05, mixed-effects model). Whilst the eTSS-uni group demonstrated significantly lower GNPI scores at day 1 post-op compared to the mTSS group (p = 0.05) and eTSS-bi group (p < 0.001), there was no significant difference in post-operative scores between approaches beyond 1–2 weeks post-operatively. Similar results were obtained when the non-functioning tumour group was analysed separately. Conclusions Transsphenoidal pituitary surgery is well tolerated. Post-operative nasal symptoms transiently worsen but ultimately improve compared to pre-operative baseline. Operative approach (microscopic, endoscopic uninostril or endoscopic binostril) only has a transient effect on severity of post-operative nasal symptoms.