Irish Journal of Medical Science最新文献

{"title":"Treatment of a STAT5b::RARα positive case of APL in a patient not eligible for intensive chemotherapy.","authors":"Jason Patterson, Kathryn Clarke, Katya Mokretar, Manisha Maurya, Amy Logan, Nicholas Cunningham, Mark Catherwood, Mary Frances McMullin","doi":"10.1007/s11845-024-03751-0","DOIUrl":"10.1007/s11845-024-03751-0","url":null,"abstract":"<p><p>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. This case, in the first instance, demonstrates the importance of using a combination of molecular techniques including next generation sequencing (NGS) for diagnosis particularly in morphological and immunophenotypic typical APL which appears negative by confirmatory testing. 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.</p>","PeriodicalId":14507,"journal":{"name":"Irish Journal of Medical Science","volume":" ","pages":"2875-2881"},"PeriodicalIF":1.7,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11666630/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141727200","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Correction to: Sonological predictors of complications of percutaneous renal biopsy-a prospective observational study.","authors":"Shruti Bhattacharya, Shankar Prasad Nagaraju, Ravindra Attur Prabhu, Dharshan Rangaswamy, Indu Ramachandra Rao, Mohan V Bhojaraja, Srinivas Vinayak Shenoy","doi":"10.1007/s11845-024-03762-x","DOIUrl":"10.1007/s11845-024-03762-x","url":null,"abstract":"","PeriodicalId":14507,"journal":{"name":"Irish Journal of Medical Science","volume":" ","pages":"3077"},"PeriodicalIF":1.7,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11666768/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141916686","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical and laboratory remission with rituximab in anti-MuSK-positive myasthenia gravis.","authors":"Berin Inan, Irem Gul Orhan, Can Ebru Bekircan-Kurt, Sevim Erdem-Ozdamar, Ersin Tan","doi":"10.1007/s11845-024-03763-w","DOIUrl":"10.1007/s11845-024-03763-w","url":null,"abstract":"<p><strong>Background: </strong>Increasing data are available on the use and efficacy of rituximab (RTX) in patients with anti-muscle-specific tyrosine kinase (MuSK)-positive myasthenia gravis (MG), especially those steroid-dependent or unresponsive to traditional immunotherapies.</p><p><strong>Aims: </strong>We aimed to evaluate the clinical characteristics and treatment responses of adult patients with generalized anti-MuSK-positive MG treated with RTX.</p><p><strong>Methods: </strong>We retrospectively recruited 16 patients who were on RTX, between January 2010 and September 2023. RTX was given 1000 mg/day intravenously twice, two weeks apart. Maintenance treatment was administered at intervals of 3-6 months based on clinical evaluation. The outcome was assessed by Myasthenia Gravis Foundation of America (MGFA) and Myasthenia Gravis Status and Treatment Intensity (MGSTI) scores. Additionally, anti-MuSK antibody levels were retested after treatment in all patients except one.</p><p><strong>Results: </strong>Twelve patients were female. The mean age at disease onset was 35.3 ± 17.3 years. The median duration between disease onset and RTX administration was 2.4 years (min-max: 0.5-36.5 years). The worst MGFA class before RTX was between IIIb-V. After RTX treatment, 81.3% of patients achieved MGFA minimal manifestations or better and MGSTI level 1 or better. Anti-MuSK antibodies became negative in 12 patients, while they remained positive in three. The changes in antibody levels seemed associated with clinical outcomes.</p><p><strong>Conclusions: </strong>RTX is an effective treatment in anti-MuSK-positive MG. Furthermore, our results support the inhibition of antibody production by RTX and we recommend monitoring anti-MuSK antibody titers to follow disease progression and treatment response.</p>","PeriodicalId":14507,"journal":{"name":"Irish Journal of Medical Science","volume":" ","pages":"2989-2994"},"PeriodicalIF":1.7,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11666748/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141859722","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Urethroplasty- a single centre single surgeon experience.","authors":"Daniel Peter McNicholas, Alexander Taylor, Andrew D Baird","doi":"10.1007/s11845-024-03798-z","DOIUrl":"10.1007/s11845-024-03798-z","url":null,"abstract":"<p><strong>Introduction: </strong>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.</p><p><strong>Methods: </strong>We retrospectively reviewed a prospectively maintained database of all urethroplasty operations performed in our hospital over a 5 -year period.</p><p><strong>Results: </strong>Forty-five patients were identified, with a mean age of 46. The most common presenting symptom was poor flow (100%). Uroflowmetry was performed in 31 of 45 patients(69%). More patients had a urethrogram (58%) than flexible cystoscopy (38%). Most strictures were idiopathic (67%). Mean stricture length was 2.6 cm. 71% did not require any further intervention. Five patients required repeat surgery. Four required DVIU and one required a repeat urethroplasty.</p><p><strong>Discussion: </strong>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.</p>","PeriodicalId":14507,"journal":{"name":"Irish Journal of Medical Science","volume":" ","pages":"3059-3064"},"PeriodicalIF":1.7,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11666646/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142119806","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Ireland's Mental Health Bill 2024: progress, problems and Procrustean perils.","authors":"Brendan D Kelly","doi":"10.1007/s11845-024-03806-2","DOIUrl":"10.1007/s11845-024-03806-2","url":null,"abstract":"<p><strong>Background: </strong>Ireland's Mental Health Bill 2024 proposes the most significant revision of mental health legislation since the Mental Health Act 2001.</p><p><strong>Aims: </strong>To explore the 2024 Bill and provide suggestions for the subsequent Act.</p><p><strong>Methods: </strong>Review of the 2024 Bill and related literature.</p><p><strong>Results: </strong>The 2024 Bill proposes useful new definitions (e.g., 'mental disorder', 'treatment') and provisions governing specific practices (e.g., 'physical restraint'). Revision is needed to better provide care and protect rights: (a) proposed treatment criteria for involuntary admission should be retained, but 'risk' criteria deleted; (b) treatment provisions should ensure mental health legislation provides for timely, accountable treatment for all patients; (c) detailed provisions about the content of treatment plans do not belong in primary legislation, which is ill-suited to micro-managing individual care and (d) the Mental Health Commission should be incorporated into the Health Information and Quality Authority.</p><p><strong>Conclusions: </strong>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.</p>","PeriodicalId":14507,"journal":{"name":"Irish Journal of Medical Science","volume":" ","pages":"2897-2914"},"PeriodicalIF":1.7,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11666710/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142346805","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Is orthorexia nervosa a hidden threat impacting quality of life in IBS patients?","authors":"Merve Kip, Neşe Kaya, Aslı Gizem Çapar","doi":"10.1007/s11845-024-03805-3","DOIUrl":"10.1007/s11845-024-03805-3","url":null,"abstract":"<p><strong>Backgrounds: </strong>The potential link between functional gastrointestinal disorders and eating disorders has been reported recently.</p><p><strong>Aims: </strong>The present study aimed to explore the relationship between orthorexic tendencies and irritable bowel syndrome (IBS)-related quality of life in IBS patients.</p><p><strong>Method: </strong>This cross-sectional study was conducted with 121 IBS patients. The data were collected using Orthorexia Nervosa-11 (ORTO-11) to assess orthorexic tendencies, Irritable Bowel Syndrome Quality of Life Scale (IBS-QoL) to measure quality of life, and Irritable Bowel Syndrome Symptom Severity Score (IBS-SSS) to measure IBS symptoms. Food consumption record was taken to assess diet quality with the Healthy Eating Index 2015 (HEI-2015). The relationship between measured variables was assessed.</p><p><strong>Results: </strong>The mean ORTO-11 score of the patients was 24.76 ± 3.99. Most patients had poor diet quality (52.00%). A moderate positive correlation was found between ORTO-11 and IBS-QoL (model 0, p < 0.005 and model 1, p < 0.001) and a strong negative correlation between IBS-SSS and IBS-QoL (p < 0.001).</p><p><strong>Conclusions: </strong>In conclusion, we can conclude that both altered IBS symptoms and orthorexic tendencies affect the quality of life of irritable bowel patients independently of each other. These findings provide valuable insights into the treatment of IBS and inform clinicians and researchers in the fields of gastroenterology, nutrition, psychiatry,and psychology.</p>","PeriodicalId":14507,"journal":{"name":"Irish Journal of Medical Science","volume":" ","pages":"2761-2771"},"PeriodicalIF":1.7,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142287370","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Functional and patient reported outcomes of Pyrocardan implants for carpometacarpal osteoarthritis.","authors":"Aoife O'Halloran, Lauren Tiedt, Olivia Flannery","doi":"10.1007/s11845-024-03785-4","DOIUrl":"10.1007/s11845-024-03785-4","url":null,"abstract":"<p><strong>Aims: </strong>The primary aim of this study was to assess functional and patient reported outcomes among those with first carpometacarpal joint osteoarthritis treated with the Pyrocardan implant (Stryker-Wright Medical) in Ireland. The secondary aim of this study was to assess implant survival and revision rates.</p><p><strong>Methods: </strong>We conducted a single surgeon retrospective study assessing 40 Pyrocardan arthroplasties among 37 patients, with a minimum of 6 months follow-up. Patient reported outcomes were assessed via quick disability of the arm, shoulder and hand (quick DASH) questionnaire, the visual analog score (VAS) for pain, and patient rated wrist evaluation (PRWE) questionnaire. Functional scores were assessed via lateral key pinch strength and Kapandji scores. Implant survival, complication and revision rates were also recorded.</p><p><strong>Results: </strong>Forty Pyrocardan implants among 37 patients were included. Mean follow-up was 2.5 years with a 97.5% implant survival rate. One patient underwent revision to trapeziectomy and Weilby sling. Eighty-eight percent of survey responders admitted that they would undergo the operation again, and 75% declared a 75-100% improvement in symptoms. Post-operative pain scores include a mean VAS of 2.07, quickDASH of 22.82, and PRWE of 26.92. Of those tested, there was an average increase in post-operative lateral key pinch, and 89% obtained a post-operative Kapandji score equal to or better than pre-operative scores.</p><p><strong>Conclusions: </strong>This is the first study assessing the Pyrocardan interpositional arthroplasty in Ireland. The implant appears to produce good functional and patient reported outcomes. There is high satisfaction and low revision rate, producing a reliable and successful surgical technique for treating CMC joint osteoarthritis.</p>","PeriodicalId":14507,"journal":{"name":"Irish Journal of Medical Science","volume":" ","pages":"2819-2824"},"PeriodicalIF":1.7,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142004233","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Letter to the editor - simultaneous bilateral total hip arthroplasty survey.","authors":"Helena Ballantine, Conor Skerritt","doi":"10.1007/s11845-024-03790-7","DOIUrl":"10.1007/s11845-024-03790-7","url":null,"abstract":"","PeriodicalId":14507,"journal":{"name":"Irish Journal of Medical Science","volume":" ","pages":"2975-2976"},"PeriodicalIF":1.7,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142017442","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Impact of successful secondary hyperparathyroidism treatment on cardiovascular morbidity in patients with chronic kidney disease KDIGO stages G3b-5.","authors":"Francesca Da Canal, Eva Breuer, Kerstin Hübel, Fran Mikulicic, Ronny R Buechel, Olivier de Rougemont, Harald Seeger, Diana Vetter","doi":"10.1007/s11845-024-03770-x","DOIUrl":"10.1007/s11845-024-03770-x","url":null,"abstract":"<p><strong>Introduction: </strong>Chronic kidney disease is common, with a projected increase to 5.4 million people in need of kidney replacement therapy by 2030. As many as 61.7% of patients on hemodialysis have secondary hyperparathyroidism (SHPT). This has been associated with high cardiovascular morbidity. The present study investigates the effect of SHPT treatment success on cardiovascular morbidity in patients with CKD KDIGO stages G3b, 4, and 5.</p><p><strong>Methods: </strong>A retrospective single center analysis of 211 chronic kidney disease stages G3b-5 patients undergoing computed tomography for coronary artery calcium (CAC) scoring at the University Hospital of Zurich between 2015 and 2019 was performed. The presence of and control of SHPT was assessed at the timepoint of CAC scoring and 6-12 months prior. Information on left ventricular ejection fraction (LVEF), left ventricular hypertrophy (LVH), and left ventricular myocardial mass index (LVMMI) were calculated from echocardiography values obtained at the timepoint of CAC scoring. Occurrence of major acute cardiovascular events, including acute coronary syndrome (ACS), within 1 year of CAC scoring was drawn from the charts. Independent predictive factors for ACS and LVH were assessed by multivariable analysis.</p><p><strong>Results: </strong>Thirty-four percent (n=72) of the patients had uncontrolled SHPT, whereas 66% (n=139) had either no (n=18%, n=39) or a controlled SHPT (n=48%, n=100). The CKD stage G3b-5 patients with uncontrolled SHPT had a significantly lower LVEF (p=0.028) and significantly more pronounced LVH (p=0.003) and a higher LVMMI (p=0.002) than the group with either no SHPT or well-controlled SHPT. Uncontrolled SHPT in the observed CKD cohort had a significantly higher risk for developing ACS (p=0.011, HR 2.76, 95%CI 1.26-6.05) compared to no or controlled SHPT patients (41.7% vs 31.7%). While patients with uncontrolled SHPT showed a median CAC score of 290 (IQR 18-866), those with no or controlled SHPT had a lower median CAC score of 194 (IQR 14-869), although not significant (p=0.490). Patients with CAC scores >400 displayed a significantly higher incidence of ACS (56.8% vs 33.1%, p=0.010).</p><p><strong>Conclusions: </strong>SHPT is common (82%) in advanced CKD (≥G3b) patients and insufficiently controlled in one-third of patients. Insufficient control of SHPT is associated with higher cardiovascular morbidity, lower LVEF, increased LVH, and a higher incidence of ACS. Thus, increased focus on SHPT control in CKD patients may have a beneficial impact on cardiovascular outcomes.</p>","PeriodicalId":14507,"journal":{"name":"Irish Journal of Medical Science","volume":" ","pages":"2723-2732"},"PeriodicalIF":1.7,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142107510","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Exosomal miR-502-5p suppresses the progression of gastric cancer by repressing angiogenesis through the Wnt/β-catenin pathway.","authors":"Yanwu Zhou, Rong Li","doi":"10.1007/s11845-024-03789-0","DOIUrl":"10.1007/s11845-024-03789-0","url":null,"abstract":"<p><strong>Background: </strong>Gastric cancer (GC) is a significant global health concern, ranking as the fifth most common cancer and the third leading cause of cancer-related deaths. The role of miR-502-5p in various cancers has been studied, but its specific impact on gastric cancer through exosomes is not well understood. This study aimed to investigate the role and mechanism of exosome-derived miR-502-5p in gastric cancer.</p><p><strong>Methods: </strong>Differential expression of miR-502-5p in tissues or serum of GC patients was determined using qRT-PCR. The impact of miR-502-5p on cell proliferation, migration, and invasion was assessed through in vitro and in vivo experiments. The potential of exosome-miR-502-5p to inhibit metastatic ability was also explored by using vivo and vitro assay. Furthermore, the underlying mechanism of miR-502-5p in gastric cancer was investigated using western blotting.</p><p><strong>Results: </strong>It was found that miR-502-5p suppressed the proliferation, migration, and invasion of gastric cancer cells. Exosome-miR-502-5p expression was negatively linked to metastatic ability and demonstrated inhibition of metastasis in vitro and in vivo. Additionally, miR-502-5p appeared to inhibit angiogenesis through the Wnt/β-catenin pathway in gastric cancer.</p><p><strong>Conclusions: </strong>Exosomal miR-502-5p acts as a suppressor in the development and progression of gastric cancer, suggesting its potential as a target for anti-cancer therapy or as a diagnostic biomarker.</p>","PeriodicalId":14507,"journal":{"name":"Irish Journal of Medical Science","volume":" ","pages":"2681-2694"},"PeriodicalIF":1.7,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142346804","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}