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3.
J Plast Reconstr Aesthet Surg ; 73(2): 376-382, 2020 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-31706865

RESUMEN

The practice of medicine is occasionally volatile and increasingly litigious. Within the specialities, plastic surgery has a high risk, with negative outcomes seen as dissatisfaction, as compared to actual physical harm. To date, most research has focused on potential triggers for litigation, such as poor communication and perceived behavioural deficiencies among physicians. Few studies have addressed patient characteristics or socioeconomic factors. The 'Influence of Socio-Economic Factors on Attitudes Towards Surgery' questionnaire was designed to reflect these goals. It was distributed for a 12-month period to patients in an Emergency Department waiting room. Three hundred twelve completed questionnaires were submitted for analysis. Within the study population, we identified certain socioeconomic trends among those with a low threshold to pursue litigation. Patients with a low threshold to sue were more likely to be male, aged 25-55 years, currently unemployed, without dependents and divorced. However, these parameters did not reach statistical significance. Although these characteristics are interesting, they cannot reliably identify or predict those with a low threshold for litigation. For now, the clinical focus should remain on careful adherence to best practice in an effort to reduce the risk of potential litigation.


Asunto(s)
Actitud , Mala Praxis/legislación & jurisprudencia , Mala Praxis/estadística & datos numéricos , Pacientes/psicología , Cirugía Plástica/legislación & jurisprudencia , Adolescente , Adulto , Femenino , Humanos , Masculino , Persona de Mediana Edad , Investigación , Autoinforme , Factores Socioeconómicos , Adulto Joven
4.
Leukemia ; 33(4): 893-904, 2019 04.
Artículo en Inglés | MEDLINE | ID: mdl-30487598

RESUMEN

Deregulated expression of the type I cytokine receptor, CRLF2, is observed in 5-15% of precursor B-cell acute lymphoblastic leukaemia (B-ALL). We have previously reported the genomic landscape of patients with CRLF2 rearrangements (CRLF2-r) using both whole genome and exome sequencing, which identified a number of potential clonal and sub-clonal genomic alterations. In this study, we aimed to assess when the CRLF2-r; IGH-CRLF2 or P2RY8-CRLF2, arose during the evolution of both Down syndrome-ALL (DS-ALL) and non-DS-ALL. Using fluorescence in situ hybridisation, we were able to track up to four structural variants in single cells from 47 CRLF2-r B-ALL patients, which in association with our multiplex single-cell analysis of a further four patients, permitted simultaneous tracking of copy number alterations, structural and single nucleotide variants within individual cells. We observed CRLF2-r arising as both early and late events in DS and non-DS-ALL patients. Parallel evolution of discrete clones was observed in the development of CRLF2-r B-ALL, either involving the CRLF2-r or one of the other tracked abnormalities. In-depth single-cell analysis identified both linear and branching evolution with early clones harbouring a multitude of abnormalities, including the CRLF2-r in DS-ALL patients.


Asunto(s)
Síndrome de Down/genética , Reordenamiento Génico , Leucemia Mieloide Aguda/genética , Receptores de Citocinas/genética , Análisis de la Célula Individual/métodos , Adolescente , Adulto , Animales , Estudios de Casos y Controles , Niño , Preescolar , Síndrome de Down/complicaciones , Síndrome de Down/patología , Femenino , Humanos , Hibridación Fluorescente in Situ , Lactante , Leucemia Mieloide Aguda/complicaciones , Leucemia Mieloide Aguda/patología , Masculino , Ratones Endogámicos NOD , Ratones SCID , Persona de Mediana Edad , Mutación , Células Tumorales Cultivadas , Ensayos Antitumor por Modelo de Xenoinjerto , Adulto Joven
5.
J Plast Reconstr Aesthet Surg ; 72(3): 491-497, 2019 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-30509737

RESUMEN

Self-harm is a common source of referral to plastic and hand surgery services. Appropriate management of these patients is complex and includes the need for close liaison with mental health services. Self-harm is the single biggest risk factor for completed suicide, thereby increasing the risk by a factor of 66.1 This study aimed to analyse the clinical pathway and demographics of patients referred to plastic surgeons following self-harm. This 6-year retrospective series included patients referred to plastic surgeons following self-harm within the Galway University Hospital group. Patients were identified through the Hospital inpatient enquiry system, cross-referenced with data from the National Suicide Research Foundation. Data collected included demographics, psychiatric history, details of self-harm injury, admission pathway and operative intervention. Forty-nine patients were referred to plastic surgery services during the study period, accounting for 61 individual presentations. The male-to-female ratio was 26 (53%) to 23 (47%). Mean age was 40 years (range 21-95 years). Alcohol or illicit substance use was recorded in 17 of 61 (28%) presentations. Mortality from suicide occurred in 4 patients (8%). Mental health assessment was not carried out in 9 presentations (15%). Documentation of need for close or one-to-one observation was made in 11 cases (20%) and was not referred to in 43 cases (83%) following mental health assessment. This study demonstrates significant diversity in the management of this vulnerable patient group and may inform development of referral pathways to improve the safety of transfer, surgical admission and discharge of patients following self-harm, in consultation with mental health services.


Asunto(s)
Derivación y Consulta , Conducta Autodestructiva/cirugía , Prevención del Suicidio , Cirugía Plástica , Adulto , Anciano , Anciano de 80 o más Años , Femenino , Humanos , Masculino , Persona de Mediana Edad , Derivación y Consulta/estadística & datos numéricos , Estudios Retrospectivos , Automutilación/psicología , Automutilación/cirugía , Conducta Autodestructiva/psicología , Adulto Joven
6.
Sci Rep ; 8(1): 13564, 2018 09 10.
Artículo en Inglés | MEDLINE | ID: mdl-30202020

RESUMEN

Diabetes is an independent risk factor for development of heart failure and has been associated with poor outcomes in these patients. The prevalence of diabetes continues to rise. Using routine HbA1c measurements on inpatients at a tertiary hospital, we aimed to investigate the prevalence of diabetes amongst patients hospitalised with decompensated heart failure and the association of dysglycaemia with hospital outcomes and mortality. 1191 heart failure admissions were identified and of these, 49% had diabetes (HbA1c ≥ 6.5%) and 34% had pre-diabetes (HbA1c 5.7-6.4%). Using a multivariable analysis adjusting for age, Charlson comorbidity score (excluding diabetes and age) and estimated glomerular filtration rate, diabetes was not associated with length of stay (LOS), Intensive Care Unit (ICU) admission or 28-day readmission. However, diabetes was associated with a lower risk of 6-month mortality. This finding was also supported using HbA1c as a continuous variable. The diabetes group were more likely to have diastolic dysfunction and to be on evidence-based cardiac medications. These observational data are hypothesis generating and possible explanations include that more diabetic patients were on medications that have proven mortality benefit or prevent cardiac remodelling, such as renin-angiotensin system antagonists, which may modulate the severity of heart failure and its consequences.


Asunto(s)
Diabetes Mellitus/epidemiología , Hemoglobina Glucada/análisis , Insuficiencia Cardíaca/sangre , Anciano , Anciano de 80 o más Años , Inhibidores de la Enzima Convertidora de Angiotensina/uso terapéutico , Diabetes Mellitus/sangre , Diabetes Mellitus/diagnóstico , Diabetes Mellitus/tratamiento farmacológico , Femenino , Insuficiencia Cardíaca/diagnóstico , Insuficiencia Cardíaca/mortalidad , Insuficiencia Cardíaca/terapia , Humanos , Pacientes Internos , Tiempo de Internación/estadística & datos numéricos , Masculino , Readmisión del Paciente/estadística & datos numéricos , Prevalencia , Factores de Riesgo , Índice de Severidad de la Enfermedad , Análisis de Supervivencia
7.
J Plast Reconstr Aesthet Surg ; 70(7): 922-930, 2017 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-28457679

RESUMEN

Renal transplantation is the most frequently performed transplant procedure. Immunosuppressive therapies have dramatically increased survival rates in transplant recipients but are associated with an increased risk of skin cancers. Recent changes in immunosuppressive strategies have been adopted with the aim of reducing this challenging adverse effect. Despite these new strategies, cutaneous malignancies tend to be numerous, aggressive and associated with a higher risk of local and distant dissemination than in the non-transplant population. This represents a significant workload for transplant physicians, dermatologists, and head and neck and plastic surgeons. This review highlights key concepts in the pathogenesis of skin cancer in transplant patients, the impact current and evolving immunosuppressive strategies and regimens will have on the epidemiology, and the management of cutaneous malignancies in renal transplant patients, with particular focus on the implications for the plastic surgery community.


Asunto(s)
Carcinoma Basocelular/etiología , Carcinoma de Células de Merkel/etiología , Carcinoma de Células Escamosas/etiología , Terapia de Inmunosupresión/efectos adversos , Trasplante de Riñón , Melanoma/etiología , Neoplasias Cutáneas/etiología , Carcinoma Basocelular/epidemiología , Carcinoma Basocelular/terapia , Carcinoma de Células de Merkel/epidemiología , Carcinoma de Células de Merkel/terapia , Carcinoma de Células Escamosas/epidemiología , Carcinoma de Células Escamosas/secundario , Carcinoma de Células Escamosas/terapia , Humanos , Terapia de Inmunosupresión/métodos , Melanoma/epidemiología , Melanoma/terapia , Prevalencia , Sarcoma de Kaposi/epidemiología , Sarcoma de Kaposi/etiología , Neoplasias Cutáneas/epidemiología , Neoplasias Cutáneas/patología , Neoplasias Cutáneas/terapia
8.
Aesthetic Plast Surg ; 41(2): 293-297, 2017 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-28062963

RESUMEN

Aesthetic plastic surgery is a consumer-driven industry, subject to influence by financial forces. A changing economic environment may thus impact on the demand for surgery. The aim of this study was to explore trends in demand for bilateral breast augmentation (BBA) in consecutively presenting patients over an 11-year period and to examine if a correlation exists between these trends and changes in Gross Domestic Product (GDP), a key economic indicator. This study revealed a correlation between annual number of breast augmentation procedures performed and GDP values (r 2 = 0.34, p value = 0.059). Additionally, predicted number of BBA procedures, based on predicted GDP growth in Ireland, strongly correlated with actual number of BBA performed (r 2 = 0.93, p value = 0.000001). Predicted GDP growth can potentially forecast future demand for BBA in our cohort allowing plastic surgeons to modify their practice accordingly. LEVEL OF EVIDENCE V: This journal requires that authors assign a level of evidence to each article. For a full description of these Evidence-Based Medicine ratings, please refer to the Table of Contents or the online Instructions to Authors www.springer.com/00266 .


Asunto(s)
Producto Interno Bruto/tendencias , Necesidades y Demandas de Servicios de Salud/economía , Mamoplastia/economía , Femenino , Predicción , Necesidades y Demandas de Servicios de Salud/tendencias , Humanos , Irlanda/epidemiología , Mamoplastia/tendencias , Estudios Retrospectivos
9.
Ir J Med Sci ; 186(2): 323-327, 2017 May.
Artículo en Inglés | MEDLINE | ID: mdl-26911860

RESUMEN

INTRODUCTION: Extrahepatic Portal Hypertension (EPH) is defined as extrahepatic hypertension of the portal venous system in the absence of liver cirrhosis. Isolated splenic vein stenosis/occlusion as one of the causes of extrahepatic portal hypertension is uncommon, comprising less than 5 % of all cases of portal hypertension. However, it is an increasingly recognised complication of both acute and chronic pancreatitis, and with the advent of more effective diagnostic methods, interventional radiological methods for its management are also becoming more effective. Often these would negate the need for invasive splenectomy surgery for the treatment of symptomatic hypersplenism and varices. METHODS: A case of a 38 year old gentleman, known to have Crohn's disease, presented with severe acute gallstone pancreatitis with necrosis of the pancreatic neck and body. His course was very complicated, requiring two laparotomies and various interventional drainages of variceal bleeds. As a result of non resolving recurrent variceal haemorrhage, it was decided to proceed with splenic vein stenting to relieve the consequences of splenic vein stenosis. A percutaneous transhepatic splenic vein stent was deployed. RESULTS: Immediate decompression of the varices was noted with no further haemmorrhage. CONCLUSION: There are little data to date on splenic vein stenting in the setting of EPH secondary to non-malignant pancreatic disease. We report a case managed successfully with splenic vein stenting and review the existing literature.


Asunto(s)
Várices Esofágicas y Gástricas/terapia , Hemorragia Gastrointestinal/terapia , Vena Esplénica , Stents , Adulto , Constricción Patológica/patología , Drenaje/métodos , Hemorragia Gastrointestinal/etiología , Humanos , Hipertensión Portal/etiología , Masculino , Páncreas/patología
10.
Aesthetic Plast Surg ; 39(3): 449-51, 2015 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-25900450

RESUMEN

UNLABELLED: Aesthetic surgery is a rapidly expanding industry and patient safety is a fundamental issue. The need for regulation has been outlined by the Professional Standards for Cosmetic Practice Report, published by the Royal College of Surgeons in January 2013 which highlighted standards of patient care. The aim of this study was to review institutional compliance with these standards. A retrospective chart review of 40 consecutive patients who underwent either bilateral breast augmentation or bilateral breast reduction between November 2012 and November 2013 within our unit was performed. Compliance with standards relating to practice management, patient consultation, patient communication and record-keeping was examined. While details of past medical history were recorded in most cases, few consultations referred to psychiatric history and cosmetic surgical history specifically. Perioperative documentation and compliance with surgical safety processes were excellent. As a self-regulating profession, it is important that plastic surgeons take the lead in auditing their practice against such published standards. We urge all professionals who carry out cosmetic procedures to regularly review their practice, thereby promoting accountability and maintaining the trust of the general public in the aesthetic surgery industry. LEVEL OF EVIDENCE V: This journal requires that authors assign a level of evidence to each article. For a full description of these Evidence-Based Medicine ratings, please refer to the Table of Contents or the online Instructions to Authors www.springer.com/00266 .


Asunto(s)
Competencia Clínica/normas , Adhesión a Directriz/normas , Mamoplastia/normas , Cirugía Plástica/normas , Estudios de Cohortes , Femenino , Humanos , Mamoplastia/métodos , Guías de Práctica Clínica como Asunto/normas , Derivación y Consulta , Estudios Retrospectivos , Medición de Riesgo , Cirugía Plástica/métodos , Resultado del Tratamiento
11.
Artículo en Inglés | MEDLINE | ID: mdl-27252979

RESUMEN

A 25-year-old male right-hand dominant warehouse operator presented with two hand infections within 12 weeks both requiring surgical drainage and antimicrobial therapy. Subsequent testing confirmed Panton-Valentine leukocidin-positive Staphylococcus aureus (PVL-SA). This case highlights the need for prompt multidisciplinary management of hand infections to consider, diagnose and manage atypical infections.

12.
Leukemia ; 29(4): 839-46, 2015 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-25388957

RESUMEN

Studies on twins with concordant acute lymphoblastic leukemia (ALL) have revealed that ETV6-RUNX1 gene fusion is a common, prenatal genetic event with other driver aberrations occurring subclonally and probably postnatally. The fetal cell type that is transformed by ETV6-RUNX1 is not identified by such studies or by the analysis of early B-cell lineage phenotype of derived progeny. Ongoing, clonal immunoglobulin (IG) and cross-lineage T-cell receptor (TCR) gene rearrangements are features of B-cell precursor leukemia and commence at the pro-B-cell stage of normal B-cell lineage development. We reasoned that shared clonal rearrangements of IG or TCR genes by concordant ALL in twins would be informative about the fetal cell type in which clonal advantage is elicited by ETV6-RUNX1. Five pairs of twins were analyzed for all varieties of IG and TCR gene rearrangements. All pairs showed identical incomplete or complete variable-diversity-joining junctions coupled with substantial, subclonal and divergent rearrangements. This pattern was endorsed by single-cell genetic scrutiny in one twin pair. Our data suggest that the pre-leukemic initiating function of ETV6-RUNX1 fusion is associated with clonal expansion early in the fetal B-cell lineage.


Asunto(s)
Linfocitos B/patología , Subunidad alfa 2 del Factor de Unión al Sitio Principal/genética , Regulación Leucémica de la Expresión Génica , Proteínas de Fusión Oncogénica/genética , Leucemia-Linfoma Linfoblástico de Células Precursoras/genética , Células Precursoras de Linfocitos B/patología , Linfocitos T/patología , Gemelos Monocigóticos/genética , Linfocitos B/metabolismo , Linaje de la Célula/genética , Células Clonales , Subunidad alfa 2 del Factor de Unión al Sitio Principal/metabolismo , Femenino , Feto , Reordenamiento Génico de Linfocito T , Humanos , Masculino , Proteínas de Fusión Oncogénica/metabolismo , Leucemia-Linfoma Linfoblástico de Células Precursoras/metabolismo , Leucemia-Linfoma Linfoblástico de Células Precursoras/patología , Células Precursoras de Linfocitos B/metabolismo , Receptores Fc/genética , Receptores Fc/metabolismo , Linfocitos T/metabolismo , Factores de Tiempo
13.
Leukemia ; 29(1): 58-65, 2015 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-24897505

RESUMEN

Identical twins have provided unique insights on timing or sequence of genetic events in acute lymphoblastic leukaemia (ALL). To date, this has mainly focused on ALL with MLL or ETV6-RUNX1 fusions, with hyperdiploid ALL remaining less well characterised. We examined three pairs of monozygotic twins, two concordant and one discordant for hyperdiploid ALL, for single-nucleotide polymorphism (SNP)-defined copy number alterations (CNAs), IGH/L plus TCR gene rearrangements and mutations in NRAS, KRAS, FLT3 and PTPN11 genes. We performed whole exome sequencing in one concordant twin pair. Potential 'driver' CNAs were low, 0-3 per case, and all were different within a pair. One patient had an NRAS mutation that was lacking from leukaemic cells of the twin sibling. By exome sequencing, there were 12 nonsynonymous mutations found in one twin and 5 in the other, one of which in SCL44A2 was shared or identical. Concordant pairs had some identical IGH/L and TCR rearrangements. In the twin pair with discordant hyperdiploid ALL, the healthy co-twin had persistent low level hyperdiploid CD19+ cells that lacked a CNA present in the ALL cells of her sibling. From these data, we propose that hyperdiploid ALL arises in a pre-B cell in utero and mutational changes necessary for clinical ALL accumulate subclonally and postnatally.


Asunto(s)
Diploidia , Evolución Molecular , Leucemia-Linfoma Linfoblástico de Células Precursoras/genética , Gemelos Monocigóticos , Cartilla de ADN , Exoma , Reordenamiento Génico de Linfocito T , Genes de Inmunoglobulinas , Humanos , Reacción en Cadena en Tiempo Real de la Polimerasa
14.
Heart ; 100(12): 923-9, 2014 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-24647052

RESUMEN

OBJECTIVE: Acute heart failure syndrome (AHFS) is a major cause of hospitalisation and imparts a substantial burden on patients and healthcare systems. Tools to define risk of AHFS hospitalisation are lacking. METHODS: A prospective cohort study (n=628) of patients with stable chronic heart failure (CHF) secondary to left ventricular systolic dysfunction was used to derive an AHFS prediction model which was then assessed in a prospectively recruited validation cohort (n=462). RESULTS: Within the derivation cohort, 44 (7%) patients were hospitalised as a result of AHFS during 1 year of follow-up. Predictors of AHFS hospitalisation included furosemide equivalent dose, the presence of type 2 diabetes mellitus, AHFS hospitalisation within the previous year and pulmonary congestion on chest radiograph, all assessed at baseline. A multivariable model containing these four variables exhibited good calibration (Hosmer-Lemeshow p=0.38) and discrimination (C-statistic 0.77; 95% CI 0.71 to 0.84). Using a 2.5% risk cut-off for predicted AHFS, the model defined 38.5% of patients as low risk, with negative predictive value of 99.1%; this low risk cohort exhibited <1% excess all-cause mortality per annum when compared with contemporaneous actuarial data. Within the validation cohort, an identically applied model derived comparable performance parameters (C-statistic 0.81 (95% CI 0.74 to 0.87), Hosmer-Lemeshow p=0.15, negative predictive value 100%). CONCLUSIONS: A prospectively derived and validated model using simply obtained clinical data can identify patients with CHF at low risk of hospitalisation due to AHFS in the year following assessment. This may guide the design of future strategies allocating resources to the management of CHF.


Asunto(s)
Técnicas de Apoyo para la Decisión , Insuficiencia Cardíaca/etiología , Hospitalización , Disfunción Ventricular Izquierda/complicaciones , Anciano , Distribución de Chi-Cuadrado , Enfermedad Crónica , Diabetes Mellitus Tipo 2/complicaciones , Inglaterra , Femenino , Insuficiencia Cardíaca/diagnóstico , Insuficiencia Cardíaca/mortalidad , Insuficiencia Cardíaca/fisiopatología , Insuficiencia Cardíaca/terapia , Humanos , Modelos Logísticos , Masculino , Persona de Mediana Edad , Análisis Multivariante , Oportunidad Relativa , Readmisión del Paciente , Valor Predictivo de las Pruebas , Pronóstico , Estudios Prospectivos , Medición de Riesgo , Factores de Riesgo , Inhibidores del Simportador de Cloruro Sódico y Cloruro Potásico/uso terapéutico , Factores de Tiempo , Disfunción Ventricular Izquierda/diagnóstico , Disfunción Ventricular Izquierda/mortalidad , Disfunción Ventricular Izquierda/fisiopatología , Función Ventricular Izquierda
15.
Int J Cardiol ; 168(6): 5243-8, 2013 Oct 15.
Artículo en Inglés | MEDLINE | ID: mdl-23978361

RESUMEN

BACKGROUND: Infective endocarditis (IE) is associated with high morbidity and mortality. The epidemiology of IE is changing, affecting more elderly patients with increased medical comorbidities. We aimed to assess the ability of the age adjusted Charlson Co-morbidity Index (ACCI) to predict early and late outcomes. METHODS: Between 1998 and 2010, adult patients with definite IE according to the modified Duke criteria were identified. The primary outcome was in-hospital and all-cause mortality. The secondary outcome was predictors of the primary outcome incorporating ACCI. RESULTS: 148 patients with IE were followed up for a mean of 3.8 ± 3 years. The mean age was 57 ± 17 years and 66% were male. In-hospital mortality and all-cause mortality were 24 and 47% respectively. Comorbid conditions included diabetes mellitus (DM) (21%); ischaemic heart disease (16%); heart failure (HF) (14%); renal failure (eGFR <60 ml/min/1.73 m(2)) (19%); and anaemia (64%). The most common causative organism was Staphylococcus aureus (53%). ACCI was >3 in 59% of patients. Cardiac surgery was performed in 45% of patients. On Cox regression analysis, ACCI >3 (HR=3.0 [1.5-6.0], p<0.002), new onset HF (HR=2.2 [1.3-3.6], p<0.003), anaemia (HR=1.8 [1.1-3.2], p=0.04) and age-per decade (HR=1.4 [1.1-1.7]. p=0.004) were independently associated with all-cause mortality. ACCI >3 was the strongest predictor of in-hospital mortality (OR=8.4 [2.8-24], p<0.001). Of the individual ACCI components, prior HF, DM with complications and metastatic disease were independent predictors of all-cause mortality. CONCLUSION: In-hospital and all-cause mortality of IE remain high. An ACCI >3 was a strong predictor of mortality, in addition to age, new HF and anaemia.


Asunto(s)
Endocarditis Bacteriana/mortalidad , Infecciones Estafilocócicas/mortalidad , Infecciones Estreptocócicas/mortalidad , Adulto , Distribución por Edad , Anciano , Anemia/mortalidad , Comorbilidad , Femenino , Estudios de Seguimiento , Insuficiencia Cardíaca/mortalidad , Mortalidad Hospitalaria , Humanos , Estimación de Kaplan-Meier , Masculino , Persona de Mediana Edad , Valor Predictivo de las Pruebas , Prevalencia , Modelos de Riesgos Proporcionales , Estudios Retrospectivos , Factores de Riesgo
16.
Int J Cardiol ; 167(4): 1226-31, 2013 Aug 20.
Artículo en Inglés | MEDLINE | ID: mdl-22483251

RESUMEN

BACKGROUND: The natural history of aortic stenosis (AS) in elderly patients remains poorly defined. In an elderly cohort over long-term follow-up, we assessed: 1) rates and predictors of hemodynamic progression and 2) composite aortic valve replacement (AVR) or death endpoint. METHODS: Consecutive Department of Veterans' Affairs patients with AS (>60 years) were prospectively enrolled between 1988 and 1994 (n=239) and followed until 2008. Patients with ≥ 2 trans-thoracic echocardiograms >6 months apart were included in the progression analysis (n=147). Baseline demographics, comorbidities and echocardiography parameters were recorded. Follow-up was censored at AVR/death. RESULTS: The age of patients was 73 ± 6 years; 82% were male. Baseline AS severity was mild (67%), moderate (23%) and severe (10%). Follow-up was 6.5 ± 4 years (range: 1-17 years). Annualized mean aortic valve gradient progression rates were: mild AS 4 ± 4 mmHg/year; moderate AS 6 ± 5 mmHg/year and severe AS 10 ± 8 mmHg/year (p<0.001). Five-year event-free survival was 66 ± 5%, 23 ± 7% and 20 ± 10% for mild, moderate and severe AS respectively. Progression to severe AS occurred in 35% and 74% of patients with mild and moderate AS respectively. Independent predictors of rapid progression were: baseline AS severity (per grade) (OR 2.6, p=0.001), aortic valve calcification (per grade) (OR 2.1, p=0.01), severe renal impairment (OR 4.0, p=0.04) and anemia (OR 2.3, p=0.05). CONCLUSIONS: In elderly patients, hemodynamic progression of AS is predicted by AS severity, renal function, aortic valve calcification and history of anemia. These factors identify patients at high risk of rapid hemodynamic progression, for whom more frequent clinical and echocardiographic surveillance is advisable.


Asunto(s)
Estenosis de la Válvula Aórtica/diagnóstico , Estenosis de la Válvula Aórtica/mortalidad , Progresión de la Enfermedad , Anciano , Anciano de 80 o más Años , Estudios de Cohortes , Femenino , Estudios de Seguimiento , Humanos , Masculino , Persona de Mediana Edad , Estudios Prospectivos , Tasa de Supervivencia/tendencias
17.
Eur Heart J Cardiovasc Imaging ; 13(10): 827-33, 2012 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-22736713

RESUMEN

AIMS: To assess the capacity of global longitudinal strain (GLS) in patients with aortic stenosis (AS) to (i) detect the subclinical left ventricular (LV) dysfunction [LV ejection fraction (LVEF) ≥50% patients]; (ii) predict all-cause mortality and major adverse cardiac events (MACE) (all patients), and (iii) provide incremental prognostic information over current risk markers. METHODS AND RESULTS: Patients with AS (n = 146) and age-matched controls (n = 12) underwent baseline echocardiography to assess AS severity, conventional LV parameters and GLS via speckle tracking echocardiography. Baseline demographics, symptom severity class and comorbidities were recorded. Outcomes were identified via hospital record review and subject/physician interview. The mean age was 75 ± 11, 62% were male. The baseline aortic valve (AV) area was 1.0 ± 0.4 cm(2) and LVEF was 59 ± 11%. In patients with a normal LVEF (n = 122), the baseline GLS was controls -21 ± 2%, mild AS -18 ± 3%, moderate AS -17 ± 3% and severe AS -15 ± 3% (P< 0.001). GLS correlated with the LV mass index, LVEF, AS severity, and symptom class (P< 0.05). During a median follow-up of 2.1 (inter-quartile range: 1.8-2.4) years, there were 20 deaths and 101 MACE. Unadjusted hazard ratios (HRs) for GLS (per %) were all-cause mortality (HR: 1.42, P< 0.001) and MACE (HR: 1.09, P< 0.001). After adjustment for clinical and echocardiographic variables, GLS remained a strong independent predictor of all-cause mortality (HR: 1.38, P< 0.001). CONCLUSIONS: GLS detects subclinical dysfunction and has incremental prognostic value over traditional risk markers including haemodynamic severity, symptom class, and LVEF in patients with AS. Incorporation of GLS into risk models may improve the identification of the optimal timing for AV replacement.


Asunto(s)
Estenosis de la Válvula Aórtica/mortalidad , Anciano , Anciano de 80 o más Años , Análisis de Varianza , Estenosis de la Válvula Aórtica/diagnóstico por imagen , Estenosis de la Válvula Aórtica/patología , Biomarcadores , Estudios de Casos y Controles , Femenino , Humanos , Masculino , Pronóstico , Estudios Prospectivos , Factores de Riesgo , Índice de Severidad de la Enfermedad , Volumen Sistólico , Ultrasonografía , Función Ventricular Izquierda , Victoria
19.
Cytogenet Genome Res ; 114(3-4): 189-98, 2006.
Artículo en Inglés | MEDLINE | ID: mdl-16954655

RESUMEN

Multiplex FISH (M-FISH) represents one of the most significant developments in molecular cytogenetics of the past decade. Originally designed to generate 24 colour karyotyping, the technique has spawned many variations and an equally diverse range of applications. In tumour and leukaemia cytogenetics, the two groups that have been targeted represent both ends of the cytogenetic spectrum: those with an apparently normal karyotype (suspected of harbouring small rearrangements not detectable by conventional cytogenetics) and those with a complex aberrant karyotype (which are difficult to karyotype accurately due to the sheer number of aberrations). In research, mouse M-FISH provides a powerful tool to characterize mouse models of a disease. In addition, the ability to accurately karyotype single metaphases without selection makes M-FISH the perfect tool in chromosome breakage studies and for characterizing clonal evolution of tumours. Finally, M-FISH has emerged as the perfect partner for the developing genomic microarray (array CGH) technologies, providing a powerful approach to gene discovery.


Asunto(s)
Citogenética/tendencias , Hibridación Fluorescente in Situ , Linfoma de Burkitt/genética , Aberraciones Cromosómicas , Humanos , Cariotipificación , Translocación Genética
20.
Best Pract Res Clin Haematol ; 14(3): 645-69, 2001 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-11640874

RESUMEN

Refinements in cytogenetic techniques over the past 30 years have allowed the increasingly sensitive detection of chromosome abnormalities in haematological malignancies. In particular, the advent of fluorescence in situ hybridization techniques has provided significant advances in both diagnosis and research of leukaemias. The application of new multicolour karyotyping techniques has allowed the complete dissection of complex chromosome rearrangements and provides the prospect of identifying new recurrent chromosome rearrangements. Both comparative genomic hybridization and interphase fluorescence in situ hybridization avoid the use of metaphase chromosomes altogether and have allowed the genetic analysis of previously intractable targets. Recent developments in comparative genomic hybridization to DNA microarrays provide the promise of high resolution and automated screening for chromosomal imbalances. Rather than replacing conventional cytogenetics, however, these techniques have extended the range of cytogenetic analyses when applied in a complementary fashion.


Asunto(s)
Citogenética/métodos , Hibridación Fluorescente in Situ/métodos , Análisis Citogenético/métodos , Neoplasias Hematológicas/genética , Humanos
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