Abstract:
INTRODUCTION:Biclonal lymphoid disorders, when two distinct lymphoproliferative disorders (LPD) co-exist, are rare (incidence of 1.4%) and associated with a poor prognosis. NOTCH1 mutations occur in 10% of CLL at diagnosis, associated with a short disease-free interval and increased risk of Richter's transformation. We hypothesised that the incidence of NOTCH1 mutations in CLL with a second LPD may be increased, because the mutation occurs early in leukaemogenesis, permitting clonal divergence. METHODS:We identified 19 patients with biclonal LPD at diagnosis: 11 with CLL and a second LPD (group A) and 8 with a second distinct CLL (group B). NOTCH1 mutation analysis was performed and clinical outcome investigated. RESULTS:Ten of 19 (52%) were NOTCH1 mutated: 5 in group A (45%) and 5 in group B (62.5%) with a favourable clinical outcome observed among this cohort with 28.7 (range 1-99) months of follow-up. CONCLUSION:In conclusion, we identified a significant (52%) incidence of NOTCH1 mutations in CLL in the context of biclonal LPD, associated with an indolent clinical course.
journal_name
Ir J Med Scijournal_title
Irish journal of medical scienceauthors
Fogarty H,Dowling A,O'Brien D,Langabeer S,Bacon CL,Flavin R,O'Dwyer M,Hennessy B,O'Leary H,Crotty G,Henderson R,Nolan J,Thornton P,Vandenberghe E,Quinn Fdoi
10.1007/s11845-020-02386-1subject
Has Abstractpub_date
2020-10-17 00:00:00eissn
0021-1265issn
1863-4362pii
10.1007/s11845-020-02386-1pub_type
杂志文章abstract:BACKGROUND:A relationship may exist between body iron stores, endothelial dysfunction and overall cardiovascular risk. AIMS:To compare vascular compliance, biochemical endothelial function and antioxidant status between patients with homozygous hereditary haemochromatosis and healthy controls. METHODS:Haemochromatosi...
journal_title:Irish journal of medical science
pub_type: 杂志文章
doi:10.1007/s11845-013-1010-2
更新日期:2014-06-01 00:00:00
abstract:OBJECTIVE:To observe the preventive and therapeutic effects of diosgenin on retinoic acid-induced osteoporosis in rats. METHODS:A total 50 Sprague-Dawley rats were randomly divided into 5 groups: control group, model group (osteoporosis rats), low (10 mg kg(-1)), middle (30 mg kg(-1)), and high-dose diosgenin (90 mg k...
journal_title:Irish journal of medical science
pub_type: 杂志文章
doi:10.1007/s11845-015-1309-2
更新日期:2016-08-01 00:00:00
abstract:INTRODUCTION:Otitis externa (OE) is an extremely common dermatological condition that can affect social life and employment, but formal studies of its general health impact are lacking. OBJECTIVE:The aims of this study were two-folded, first to assess the impact of OE on various health determinants as measured by the ...
journal_title:Irish journal of medical science
pub_type: 杂志文章
doi:10.1007/s11845-008-0137-z
更新日期:2008-09-01 00:00:00
abstract:INTRODUCTION:The amino acid taurine has an established role in attenuating lung fibrosis secondary to bleomycin-induced injury. This study evaluates taurine's effect on TGF-beta1 expression and the development of lung fibrosis after single-dose thoracic radiotherapy. METHODS:Four groups of C57/Bl6 mice received 14 Gy ...
journal_title:Irish journal of medical science
pub_type: 杂志文章
doi:10.1007/s11845-009-0389-2
更新日期:2010-03-01 00:00:00
abstract:BACKGROUND:Acute appendicitis is the most common surgical emergency. Its management reflects the efficacy of acute care surgery. Limited theatre space is an escalating issue, especially without dedicated emergency theatre access. Pre-operative delays are associated with longer length of stay, higher costs and post-oper...
journal_title:Irish journal of medical science
pub_type: 杂志文章
doi:10.1007/s11845-019-02135-z
更新日期:2020-05-01 00:00:00
abstract:BACKGROUND:The Factor V Leiden (FVL) mutation is the commonest genetic abnormality associated with venous thromboembolism. AIMS:To determine the prevalence of the FVL mutation in Irish patients undergoing total hip replacement and whether it has an increased risk of deep venous thrombosis or pulmonary embolism (DVT/PE...
journal_title:Irish journal of medical science
pub_type: 杂志文章
doi:10.1007/s11845-007-0095-x
更新日期:2007-12-01 00:00:00
abstract:BACKGROUND:Despite Ireland's temperate maritime climate, it has the third highest rate of malignant melanoma in the European Union, indicating the need to recognise tanning practices as a risky behaviour, especially amongst those most at risk (the younger population). AIM:To explore the factors associated with deliber...
journal_title:Irish journal of medical science
pub_type: 杂志文章
doi:10.1007/s11845-015-1389-z
更新日期:2016-11-01 00:00:00
abstract:INTRODUCTION:The "National Integrated Medical Imaging System" or NIMIS went live in 2011 and allows the movement of patient radiology imaging throughout the Irish health system. At the time of its launch, NIMIS was not only going to allow the filmless passage of patient radiology imaging but it was also envisaged that ...
journal_title:Irish journal of medical science
pub_type: 杂志文章
doi:10.1007/s11845-018-1900-4
更新日期:2019-05-01 00:00:00
abstract:BACKGROUND:Vitamin D deficiency in pregnancy has important maternal and fetal implications, with increased risk of developing gestational diabetes, preeclampsia, preterm birth and small for gestational age birthweight. It is recommended that every pregnant woman should take 5 μg (200 IU) of vitamin D per day during pre...
journal_title:Irish journal of medical science
pub_type: 杂志文章
doi:10.1007/s11845-017-1707-8
更新日期:2018-08-01 00:00:00
abstract:BACKGROUND:Secondary prevention therapies, such as angiotension converting enzyme (ACE) inhibitors, beta-blockers and statins, are known to reduce cardiovascular morbidity and mortality. OBJECTIVE:The aim of the study was to examine the prevalence of coronary heart disease (CHD) and the prescribing of secondary preven...
journal_title:Irish journal of medical science
pub_type: 杂志文章
doi:10.1007/BF03169139
更新日期:2005-07-01 00:00:00
abstract:AIMS:To assess knowledge of colorectal cancer (CRC) symptoms among outpatient attendees, and to review disease stage, presentation and duration of symptoms in patients diagnosed with CRC. METHODS:A questionnaire survey was used to evaluate knowledge of symptoms of CRC and other malignancies. A review of patients diagn...
journal_title:Irish journal of medical science
pub_type: 杂志文章
doi:10.1007/BF03167968
更新日期:2006-10-01 00:00:00
abstract::The purpose of this case presentation is to illustrate the rate association between acute pancreatitis and colonic pseudo-obstruction and to highlight the difficulties of assessing intestinal motility in a defunctioned segment of bowel prior to closure of a defunctioning stoma. ...
journal_title:Irish journal of medical science
pub_type: 杂志文章
doi:10.1007/BF02937554
更新日期:1998-01-01 00:00:00
abstract:BACKGROUND:Perforation of the oesophagus is a life-threatening condition requiring early recognition and repair to prevent mediastinitis and death. Primary closure with mediastinal drainage is recognised as the treatment of choice for patients presenting within 24 hours. Many are frail, however, and unsuitable for majo...
journal_title:Irish journal of medical science
pub_type: 杂志文章
doi:10.1007/BF03168953
更新日期:2002-04-01 00:00:00
abstract::The use of injectable gold in the treatment of rheumatoid arthritis (RA) is hampered by the high incidence of adverse reactions of which myelotoxicity is potentially the most serious. Regular full blood count (FBC) monitoring prior to each injection, a practice which requires much time and effort, has never been fully...
journal_title:Irish journal of medical science
pub_type: 杂志文章
doi:10.1007/BF02983717
更新日期:1992-03-01 00:00:00
abstract:BACKGROUND:Posterior reversible encephalopathy syndrome (PRES) is associated with variable predisposing risk factors including preeclampsia and eclampsia since it proposed. However, studies of large case series focusing on pregnancy-related PRES are still limited. We performed a large retrospective study of patients wi...
journal_title:Irish journal of medical science
pub_type: 杂志文章
doi:10.1007/s11845-017-1567-2
更新日期:2017-08-01 00:00:00
abstract::This article was published online with an error. In Table 3, the name of the variable in the last row is missing. It just says 'mmHg'. The name to be written is 'MAP (mmHg)'. ...
journal_title:Irish journal of medical science
pub_type: 已发布勘误
doi:10.1007/s11845-020-02363-8
更新日期:2020-09-09 00:00:00
abstract::Anxiety, depression, self-esteem, behavioural deviance and prosocial behaviour were studied in children attending a normal school in a disadvantaged urban area, using self-rated and teacher-rated questionnaires. The prevalence of depression was rated as 5%. 15% described frequent suicidal thoughts. 40% scored as behav...
journal_title:Irish journal of medical science
pub_type: 临床试验,杂志文章
doi:10.1007/BF02943055
更新日期:1989-06-01 00:00:00
abstract:AIM:To examine the role of alcohol and alcohol-related cognitive impairment in the clinical presentation of adults in-patients less than 65 years who are 'hard to discharge' in a general hospital. METHOD:Retrospective medical file review of inpatients in CUH referred to the discharge coordinator between March and Sept...
journal_title:Irish journal of medical science
pub_type: 杂志文章
doi:10.1007/s11845-008-0135-1
更新日期:2008-06-01 00:00:00
abstract:BACKGROUND:Laparoscopic cholecystectomy is the operation of choice for cholelithiasis. AIMS:The aims of our study were to assess the feasibility of day case laparoscopic cholecystectomy (DCLC) in selected patients. METHODS:DCLC was introduced in this unit in July 1999. The first 50 patients were prospectively evaluat...
journal_title:Irish journal of medical science
pub_type: 杂志文章
doi:10.1007/BF03168818
更新日期:2001-04-01 00:00:00
abstract:OBJECTIVE:We describe a case of Cushing's syndrome due to ectopic ACTH secretion, where the only potential source on conventional imaging was a tiny benign-appearing lung nodule, which failed to take up radiolabelled octreotide. DESIGN AND METHODS:To determine whether the patient might respond to therapeutic administr...
journal_title:Irish journal of medical science
pub_type: 杂志文章
doi:10.1007/s11845-008-0171-x
更新日期:2008-09-01 00:00:00
abstract:INTRODUCTION:This is a retrospective review of the Rotunda Hospital Emergency Room (ER) documentation with respect to attendances for a 4-month period (August-November) in both 2009 and 2012. The aim was to quantify the workload and assess the quality of care offered to patients attending the ER over the two time perio...
journal_title:Irish journal of medical science
pub_type: 杂志文章
doi:10.1007/s11845-014-1185-1
更新日期:2014-12-01 00:00:00
abstract::A questionnaire survey was carried out to estimate activity levels in a sample of 784 men and women aged 35 to 64 years in County Kilkenny, Ireland. Men were more likely to have sedentary, heavy or very heavy work activity while the majority of women had moderate activity during an average day. Only a small minority o...
journal_title:Irish journal of medical science
pub_type: 杂志文章
doi:10.1007/BF02950440
更新日期:1991-01-01 00:00:00
abstract:BACKGROUND:Injecting drug use is associated with increased morbidity and mortality. This is the first longitudinal study of a community-based population of injecting drug users (IDUs) in the Republic of Ireland. AIM:To establish the natural history of IDUs in a deprived Dublin community. METHODS:Eighty-two IDUs (hero...
journal_title:Irish journal of medical science
pub_type: 杂志文章
doi:10.1007/s11845-012-0814-9
更新日期:2012-12-01 00:00:00
abstract:BACKGROUND:Programmed cell death, or apoptosis, is a distinct, managed form of cell death. It is fundamentally different from necrosis. It is a genetically controlled, energy-dependent method of cellular deletion without inflammation. In the cardiovascular system, apoptosis occurs as a primary and secondary event in di...
journal_title:Irish journal of medical science
pub_type: 杂志文章,评审
doi:10.1007/BF03168827
更新日期:2001-04-01 00:00:00
abstract:BACKGROUND:Ankylosing spondylitis (AS) is characterised by insidious onset lower back pain. Poor symptom recognition results in delays in diagnosis of up to 11 years. Despite the widespread use of anti-tumour necrosis factor alpha (anti-TNFα) therapy, work disability remains a challenging problem in AS. METHODS:A retr...
journal_title:Irish journal of medical science
pub_type: 杂志文章
doi:10.1007/s11845-013-1054-3
更新日期:2014-12-01 00:00:00
abstract:BACKGROUND:Hemoglobin (HB) and red cell distribution width (RDW) are known to be prognostic in many cancer types. The HB-RDW ratio (HRR) is a new biomarker that has been shown to be predictive in some cancer types. However, the prognostic significance of HRR in patients with gastric cancer (GC) is unknown. AIMS:In thi...
journal_title:Irish journal of medical science
pub_type: 杂志文章
doi:10.1007/s11845-019-02153-x
更新日期:2020-02-01 00:00:00
abstract:BACKGROUND:Circumcision is one of the world's most common operations. Series describing a new technique involving the use of fibrin-based glue have become more apparent in the literature. Here we outline the first 100 such cases for 62 children and 38 adults in our practice describing complications and learning curve. ...
journal_title:Irish journal of medical science
pub_type: 杂志文章
doi:10.1007/s11845-010-0545-8
更新日期:2011-03-01 00:00:00
abstract::Preparing a medical school for institutional review can be a challenging undertaking for any institution requiring an understanding of the international standards being used and adequate preparation and planning (MacCarrick et al. in Med Teach 32(5):e227-e232, 2010). This series examines each of the nine standards dev...
journal_title:Irish journal of medical science
pub_type: 杂志文章,评审
doi:10.1007/s11845-010-0541-z
更新日期:2010-12-01 00:00:00
abstract:BACKGROUND:The majority of patients presenting with oesophageal cancer have symptoms for more than three months and advanced disease at presentation. Most appear unaware of the significance of dysphagia as a symptom. Cancer awareness programmes focus on symptoms such as lumps and bleeding. AIM:To sample the level of p...
journal_title:Irish journal of medical science
pub_type: 杂志文章
doi:10.1007/BF03167788
更新日期:2001-10-01 00:00:00
abstract:BACKGROUND:Cancellation of operations increases theatre costs and decreases efficiency. We examined the causes of theatre cancellations in general surgery. METHODS:The Beaumont hospital database (ORSUS system) and theatre records were examined retrospectively between April 1997 and March 2002. The number and causes of...
journal_title:Irish journal of medical science
pub_type: 杂志文章
doi:10.1007/BF03167925
更新日期:2004-07-01 00:00:00