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1.
Sociol Ruralis ; 64(2): 180-201, 2024 Apr.
Article in English | MEDLINE | ID: mdl-38680761

ABSTRACT

This paper focuses on the relationships between people and farmed nonhuman animals, and between these animals and the farmed environments they encounter, in the enactment of interspecies endemic disease situations. It examines how the nonhuman embodied capacities, agency and subjectivities of cows and sheep on farms in the north of England make a difference to how the endemic conditions of lameness and bovine viral diarrhoea (BVD) are encountered and responded to by farmers and advisers. The paper draws on empirical research with farmers and their advisers, and explores three key, inter-related, themes: first, the importance of intersubjective relationships between people and animals on farms; second, the nonhuman components of the 'disease situations' associated with endemic diseases, including animals' embodied characteristics and behaviours and the relationships between bodies and environments on different farms; and finally the ways in which animal agency and resistance makes a difference to on-farm interventions aiming to prevent or treat lameness and BVD. The paper concludes by arguing that animals' capacities, and nonhuman difference, should be taken further into account in future policy and practice interventions in endemic disease in farmed animals.

2.
J Infect Dis ; 2024 Jan 12.
Article in English | MEDLINE | ID: mdl-38214571

ABSTRACT

Despite inflammation being implicated in cardiovascular disease (CVD) in people with HIV (PWH), considerable heterogeneity within populations of PWH exists. Stratifying CVD risk based on inflammatory phenotype could play an important role. Using principal component analyses and unsupervised hierarchical clustering, we examined 38 biomarkers to identify inflammatory phenotypes in two independent cohorts of PWH. We identified three distinct inflammatory clusters present in both cohorts that associated with altered risk of both subclinical CVD (cohort 1) and prevalent clinical CVD (cohort 2) after adjusting for CVD risk factors. These data support precision medicine approaches to enhance CVD risk assessment in PWH.

3.
Environ Res ; 235: 116612, 2023 10 15.
Article in English | MEDLINE | ID: mdl-37454798

ABSTRACT

Synthetic pesticides (e.g. herbicides, fungicides and insecticides) are used widely in agriculture to protect crops from pests, weeds and disease. However, their use also comes with a range of environmental concerns. One key concern is the effect of insecticides on non-target organisms such as bees, who provide pollination services for crops and wild plants. This systematic literature review quantifies the existing research on bees and insecticides broadly, and then focuses more specifically on non-neonicotinoid insecticides and non-honeybees. We find that articles on honeybees (Apis sp.) and insecticides account for 80% of all research, with all other bees combined making up 20%. Neonicotinoids were studied in 34% of articles across all bees and were the most widely studied insecticide class for non-honeybees overall, with almost three times as many studies than the second most studied class. Of non-neonicotinoid insecticide classes and non-honeybees, the most studied were pyrethroids and organophosphates followed by carbamates, and the most widely represented bee taxa were bumblebees (Bombus), followed by leaf-cutter bees (Megachile) and mason bees (Osmia). Research has taken place across several countries, with the highest numbers of articles from Brazil and the US, and with notable gaps from countries in Asia, Africa and Oceania. Mortality was the most studied effect type, while sub-lethal effects such as on behaviour were less studied. Few studies tested how the effect of insecticides were influenced by multiple pressures, such as climate change and co-occurring pesticides (cocktail effects). As anthropogenic pressures do not occur in isolation, we suggest that future research also addresses these knowledge gaps. Given the changing global patterns in insecticide use, and the increasing inclusion of both non-honeybees and sub-lethal effects in pesticide risk assessment, there is a need for expanding research beyond its current state to ensure a strong scientific evidence base for the development of risk assessment and associated policy.


Subject(s)
Fungicides, Industrial , Insecticides , Pesticides , Pyrethrins , Bees , Animals , Insecticides/toxicity , Insecticides/analysis , Neonicotinoids , Crops, Agricultural
4.
J Evid Based Dent Pract ; 22(1): 101619, 2022 03.
Article in English | MEDLINE | ID: mdl-35219460

ABSTRACT

BACKGROUND: OHIP's original seven-domain structure does not fit empirical data, but a psychometrically sound and clinically more plausible structure with the four OHRQoL dimensions Oral Function, Orofacial Pain, Orofacial Appearance, and Psychosocial Impact has emerged. Consequently, use and scoring of available OHIP versions need to be revisited. AIM: We assessed how well the overall construct OHRQoL and its four dimensions were measured with several OHIP versions (20, 19, 14, and 5 items) to derive recommendations which instruments should be used and how to score them. METHODS: Data came from the "Dimensions of OHRQoL Project" and used the project's learning sample (5,173 prosthodontic patients and general population subjects with 49-item OHIP data). We computed correlations among OHIP versions' summary scores. Correlations between OHRQoL dimensions, on one hand, and OHIP versions' domain scores or OHIP-5's items, on the other hand, were also computed. OHIP use and scoring recommendations were derived for psychometrically solid but also practical OHRQoL assessment. RESULTS: Summary scores of 5-, 14-, 19- and 49-item versions correlated highly (r = 0.91-0.98), suggesting similar OHRQoL construct measurement across versions. The OHRQoL dimensions Oral Function, Orofacial Pain, Orofacial Appearance, and Psychosocial Impact were best measured by the OHIP domain scores for Physical Disability, Physical Pain, Psychological Discomfort, and Handicap, respectively. CONCLUSION: Recommendations were derived which OHIP should be preferably used and how OHIP versions should be scored to capture the overall construct and the dimensions of OHRQoL. Psychometrically solid and practical OHRQoL assessment in all settings across all oral health conditions can be achieved with the 5-item OHIP.


Subject(s)
Oral Health , Quality of Life , Facial Pain/psychology , Humans , Prosthodontics , Surveys and Questionnaires
7.
AIDS Educ Prev ; 28(5): 405-416, 2016 10.
Article in English | MEDLINE | ID: mdl-27710081

ABSTRACT

The National HIV AIDS Strategy (NHAS) calls for a more coordinated response to the HIV epidemic. The Global Engagement in Care Convening created a forum for domestic and international experts to identify best practices in HIV care. This manuscript summarizes the meeting discussions and recommendations from meeting notes and an audio recording of the meeting. Recommendations include: further standardization of performance goals and performance measures; additional research; a more robust system to support competing needs of clients receiving services; electronic information exchanges for HIV-related data; an expansion of the role of other health professionals to extend the capacity of physicians and other members of the care team; and revisions to current financing systems to increase reimbursement for and access to services that promote linkage to and retention in HIV care. The recommendations provide a unique example of "reverse technical assistance" and will inform U.S. program development, research, and policy.


Subject(s)
HIV Infections/drug therapy , Outcome Assessment, Health Care , Patient Care Management , Anti-Retroviral Agents/therapeutic use , Global Health , HIV Infections/epidemiology , HIV Infections/therapy , HIV Infections/virology , Health Policy , Humans
8.
Heart Fail Rev ; 20(6): 673-87, 2015 Nov.
Article in English | MEDLINE | ID: mdl-26435042

ABSTRACT

Patient-centred care (PCC) is recommended in policy documents for chronic heart failure (CHF) service provision, yet it lacks an agreed definition. A systematic review was conducted to identify PCC interventions in CHF and to describe the PCC domains and outcomes. Medline, Embase, CINAHL, PsycINFO, ASSIA, the Cochrane database, clinicaltrials.gov, key journals and citations were searched for original studies on patients with CHF staged II-IV using the New York Heart Association (NYHA) classification. Included interventions actively supported patients to play informed, active roles in decision-making about their goals of care. Search terms included 'patient-centred care', 'quality of life' and 'shared decision making'. Of 13,944 screened citations, 15 articles regarding 10 studies were included involving 2540 CHF patients. Three studies were randomised controlled trials, and seven were non-randomised studies. PCC interventions focused on collaborative goal setting between patients and healthcare professionals regarding immediate clinical choices and future care. Core domains included healthcare professional-patient collaboration, identification of patient preferences, patient-identified goals and patient motivation. While the strength of evidence is poor, PCC has been shown to reduce symptom burden, improve health-related quality of life, reduce readmission rates and enhance patient engagement for patients with CHF. There is a small but growing body of evidence, which demonstrates the benefits of a PCC approach to care for CHF patients. Research is needed to identify the key components of effective PCC interventions before being able to deliver on policy recommendations.


Subject(s)
Decision Making , Heart Failure/therapy , Patient-Centered Care/legislation & jurisprudence , Chronic Disease , Humans , Quality of Life , Randomized Controlled Trials as Topic
9.
Int J Cardiol ; 177(2): 380-4, 2014 Dec 15.
Article in English | MEDLINE | ID: mdl-25189497

ABSTRACT

AIMS: We assessed adherence to European Society of Cardiology heart rate guidelines (i.e. heart rates less than 70 bpm) in patients with chronic stable heart failure. We also investigated the percent of patients on target doses of rate controlling drugs. METHODS: Multicenter study involving 549 patients from 12 heart failure centers in the Republic of Ireland. Patients in sinus rhythm with stabilized heart failure treatment and without recent cardiac events were included. Resting heart rates, demographics, co-morbidities and heart failure therapies were recorded. RESULTS: Heart rates ≥ 70 bpm were noted in 176 (32.1%) patients with 117 (21.3%) having rates > 75 bpm. Non-achievement of target heart rates were unrelated to age, gender or most cardiovascular risk factors. However, 42% of patients with diabetes (p<0.01), 56% of those with COPD (p<0.0001) and 46% of those with NYHA Class 3 (p<0.05) did not achieve target heart rates. Fifty eight (11%) subjects were not on beta-blockers and of these forty subjects (69%) (p<0001) did not achieve target heart rates. Of those on beta-blockers only 25% were at target dose. However, beta-blocker dosage was unrelated to achieving target heart rates. Ivabradine was used in 11% of patients with 10% at target dosage. CONCLUSION: This study highlights that a third of "stabilized" chronic heart failure patients have not reached recommended target heart rates. Respiratory problems, diabetes and marked dyspnea were associated with poorer rate control. Guideline unawareness, inadequate beta-blocker titration and under use of ivabradine may prevent patients gaining the proven benefits of heart rate control.


Subject(s)
Awareness/physiology , Heart Failure/diagnosis , Heart Failure/physiopathology , Heart Rate/physiology , Aged , Chronic Disease , Female , Heart Failure/psychology , Humans , Male , Middle Aged
10.
J Plast Reconstr Aesthet Surg ; 67(9): 1237-41, 2014 Sep.
Article in English | MEDLINE | ID: mdl-24908547

ABSTRACT

INTRODUCTION: Barbed suture devices have a widespread application in plastic surgery. The unidirectional nature of the barbs facilitates a strong grip on tissues and reduces the need to constantly tension the suture manually. We hypothesized that a barbed suture tie-over suture to secure skin grafts would be quicker to perform than traditional tie-overs and would also exert a greater downward pressure on the skin graft. METHODS: Thirty uniform areas of skin were excised from a cadaver. A pressure transducer was placed on the wound bed and covered with the excised skin along with a mineral oil-soaked wool dressing to act as a bolster. Three different sutures were used to secure the graft in place and the pressure was recorded. The tie-over techniques used were the classic silk tie-over, a running Vicryl Rapide™ tie-over and a running barbed tie-over. RESULTS: The barbed tie-over exerted the most downward pressure (82.8 ± 7.3 mmHg) compared to the silk (46 ± 4.85 mmHg) and the Vicryl Rapide™ (18.6 ± 2.4 mmHg). Furthermore, the barbed tie-over was the quickest to perform (1:45 ± 22 s) when compared to the Vicryl Rapide™ (02:57 ± 27 s) and the silk tie-overs (04:26 ± 39 s). CONCLUSION: Barbed sutures are a viable option for securing skin grafts. They are quick to perform and provide significantly improved downward pressure on the skin graft. We feel that this technique would be especially suited to the sole operator as it can be carried out without the need of an assistant.


Subject(s)
Skin Transplantation/methods , Suture Techniques/instrumentation , Bandages , Cadaver , Equipment Design , Humans , Sutures , Transducers, Pressure
11.
Ir J Med Sci ; 182(2): 185-90, 2013 Jun.
Article in English | MEDLINE | ID: mdl-23054475

ABSTRACT

BACKGROUND: The role of troponin quantification in evaluation of patients with suspected acute coronary syndrome is established, but with cost implications. Emerging high-sensitivity troponin and novel multi-marker assays herald further resource implications. AIMS: The objective of this study was to quantify recent trends in troponin usage and costs in a cross-section of hospitals. METHODS: A cross-sectional survey seeking data on troponin usage and costs from six tertiary referral, public access teaching hospitals for consecutive years between 2003 and 2009 was carried out. RESULTS: A median annual increase in the volume of troponin assays requested was identified in all six hospitals, with an average median annual increase of 6.9 % across hospitals (interquartile range 3.4, 10.1 %). This annual increase was not accompanied by a corresponding increase in volume of patients presenting to the Emergency Department (ED) with chest pain. The majority (44-67 %) of troponin requests originated in the ED of hospitals. The median annual spend on troponins per hospital was 115,612 (interquartile range 80,452, 140,918). An analysis of results of assays performed in one centre found that the majority (91 %) of troponin assays performed were in the normal range. CONCLUSIONS: An annual increase in troponin requests without a corresponding increase in patient activity raises the possibility of increasingly indiscriminate troponin testing. The cumulative direct and indirect costs of inappropriate testing are significant. Corrective strategies are necessary to improve patient selection and testing protocols, particularly in the advent of the high-sensitivity troponin assays and novel multi-marker strategies.


Subject(s)
Chest Pain/blood , Diagnostic Techniques, Cardiovascular/statistics & numerical data , Troponin/blood , Biomarkers/blood , Cross-Sectional Studies , Emergency Service, Hospital , Hospital Bed Capacity , Humans , Ireland , Myocardial Infarction/blood , Myocardial Infarction/diagnosis
12.
Ir Med J ; 103(10): 308-10, 2010.
Article in English | MEDLINE | ID: mdl-21560503

ABSTRACT

Ireland's over 65 year population is growing. As incidence of coronary events rises with age, there is a growing population of elderly patients with cardiac disease. The changing age profile of patients treated by a tertiary hospital's Cardiology service was quantified using Hospital Inpatient Enquiry data. 53% of CCU admissions were aged > or = 65 years, with admissions aged > or = 85 years in 2008 four times greater than in 2002. Percentages of patients undergoing diagnostic coronary angiography and percutaneous coronary interventions in 1997 aged > or = 70 years were 19% and 18% respectively. By 2007, these percentages had risen to 31% and 34% respectively--greatest increases were in the very elderly age categories. The proportion of ICD recipients aged > 70 years increased from 8% in 2003 to 25% by 2008. The proportion of elderly patients receiving advanced cardiac care is increasing. This trend will continue and has clear resource implications. Outcomes of interventions in the very old need further investigation, since the 'old old' are under-represented in clinical trials.


Subject(s)
Coronary Care Units/statistics & numerical data , Coronary Care Units/trends , Patient Admission/statistics & numerical data , Patient Admission/trends , Age Distribution , Aged , Aged, 80 and over , Angioplasty, Balloon, Coronary/statistics & numerical data , Angioplasty, Balloon, Coronary/trends , Coronary Angiography/statistics & numerical data , Coronary Angiography/trends , Coronary Disease/therapy , Humans , Ireland
13.
Ir J Med Sci ; 175(1): 5-9, 2006.
Article in English | MEDLINE | ID: mdl-16615220

ABSTRACT

BACKGROUND: The first Irish heart transplant was performed on the 10th of September 1985. Over the next 20 years, 229 transplants were performed in 228 recipients. AIMS: To evaluate the success of the first generation of cardiac transplantation in Ireland. METHODS: Analysis of clinical outcomes and survival statistics for patients undergoing heart transplantation in Ireland and comparison with international standards. RESULTS: There has been a steady improvement in transplant outcome over this time and survival figures for recipients between 2000 and 2004 show a hospital, 1-year and 5-year survival rate of 85.7%, 84.1% and 76.8% respectively. Thirty-eight of the 99 heart transplants performed between 1985 and 1994 are still alive more than 10 years later and the longest survivor is now 19 years post transplantation. CONCLUSIONS: The results compare favourably with international figures. Heart transplantation offers excellent longterm survival and quality of life but remains challenged by a shortage of suitable donor organs.


Subject(s)
Heart Transplantation , Adolescent , Adult , Aged , Child , Female , Graft Survival , Heart Transplantation/mortality , Heart Transplantation/statistics & numerical data , Humans , Immunosuppression Therapy/statistics & numerical data , Ireland , Male , Middle Aged , Survival Analysis , Time Factors
15.
Article in English | MEDLINE | ID: mdl-16329663

ABSTRACT

Criteria of organ-specific autoimmunity are fulfilled in a subset of patients with myocarditis/dilated cardiomyopathy (DCM). In particular, circulating heart-reactive autoantibodies are found in such patients and symptom-free relatives. These autoantibodies are directed against multiple antigens, some of which are expressed in the heart (organ-specific), others in heart and some skeletal muscle fibres (partially heart-specific) or in heart and skeletal muscle (muscle-specific). Distinct autoantibodies have different frequency in disease and normal controls. Different techniques detect one or more antibodies, thus they cannot be used interchangeably for screening. It is unknown whether the same patients produce more antibodies or different patient groups develop autoimmunity to distinct antigens. IgG antibodies, shown to be cardiac- and disease-specific for myocarditis/DCM, can be used as autoimmune markers for relatives at risk as well as for identifying patients in whom immunosuppression may be beneficial. Some autoantibodies may also have a functional role, but further work is needed.


Subject(s)
Autoimmune Diseases/immunology , Autoimmunity/physiology , Myocarditis/immunology , Myocardium/immunology , Autoantibodies , Autoantigens/immunology , Autoimmune Diseases/physiopathology , Cardiac Myosins/immunology , Cardiomyopathy, Dilated/classification , Cardiomyopathy, Dilated/immunology , Cardiomyopathy, Dilated/physiopathology , Extracellular Matrix Proteins/immunology , Humans , Mitochondrial Proteins/immunology , Myocarditis/classification , Myocarditis/physiopathology , Organ Specificity , Receptors, Adrenergic/immunology , Sarcolemma/enzymology , Sodium-Potassium-Exchanging ATPase/immunology
16.
Ir Med J ; 98(10): 235-7, 2005.
Article in English | MEDLINE | ID: mdl-16445141

ABSTRACT

Cardiac transplantation is a successful treatment for end-stage heart disease. However the number of potential candidates is significantly greater then number of suitable organ donors. We reviewed the characteristics of new transplant candidates presenting for assessment for cardiac transplantation to the Irish Heart & Lung Transplant programme over a one year period. Of 44 patients referred for assessment, 24 (54.5%) were listed for cardiac transplantation. Six have died while awaiting transplantation, seven have been transplanted and eleven remain on the active transplant list. The six month survival rate on the transplant waiting list is 74%. Although the Irish system of organ donation has traditionally provided high organ donation rates in comparison with other countries, the demand for suitable heart donors exceeds supply. Newer methods of promoting and facilitating organ donation may prove beneficial in improving the number of donations and addressing the long waiting time for cardiac transplantation.


Subject(s)
Heart Diseases/mortality , Heart Transplantation , Waiting Lists , Adult , Chi-Square Distribution , Female , Humans , Male , Middle Aged , Prospective Studies , Statistics, Nonparametric , Survival Rate
17.
Pacing Clin Electrophysiol ; 26(2 Pt 1): 551-8, 2003 Feb.
Article in English | MEDLINE | ID: mdl-12710313

ABSTRACT

Biventricular pacing has been suggested as offering greater hemodynamic benefit than single site pacing in patients with advanced heart failure and left bundle branch block. This was tested using acute multisite pacing. Eighteen such patients were atrialsensed, ventricular multisite paced in random order for 5 minutes. The best achieved measure of cardiac output (CO), pulmonary capillary wedge pressure (PCWP) and left ventricular (LV) + dP/dtmax at RV, LV, and biventricular pacing sites compared. Baseline PCWP, CO, and LV + dP/dtmax were 20 +/- 10 mmHg 4.8 +/- 1.3 L/min and 680 +/- 173 mmHg/s respectively. In all 18 patients CO and in 17 of 18 patients LV + dP/dtmax and PCWP improved with pacing. In the group as a whole, no significant hemodynamic difference between pacing sites was observed in PCWP (pacing site RV 19 +/- 10 mmHg, LV 17 +/- 10, biventricular 18 +/- 11) or CO (RV 5.2 +/- 1.5 L/min, LV 5.1 +/- 1.5, biventricular 5.3 +/- 1.7). Increased stroke volume/PCWP with LV (5.6 +/- 3.7 mLs/mmHg) and biventricular pacing (5.4 +/- 4.0) were not significantly greater compared to RV pacing (4.7 +/- 3.0, ANOVA P = 0.20). Increase in LV + dP/dtmax with pacing at LV (814 +/- 190 mmHg/s) and biventricular (839 +/- 290) sites was not significantly greater than the increase with RV pacing (769 +/- 203 mmHg/s, ANOVA P = 0.30). Pacing in patients with heart failure and conduction delay can produce a hemodynamic benefit. There is individual variation in the pacing site that leads to the greatest improvement. In the group as a whole, biventricular and LV pacing produced only modest improvements compared to RV pacing.


Subject(s)
Bundle-Branch Block/therapy , Cardiac Pacing, Artificial/methods , Heart Failure/physiopathology , Hemodynamics/physiology , Bundle-Branch Block/physiopathology , Cardiac Catheterization , Cardiac Output/physiology , Electrocardiography , Heart Failure/therapy , Humans , Middle Aged , Pulmonary Wedge Pressure/physiology
18.
Surgeon ; 1(4): 236-8, 2003 Aug.
Article in English | MEDLINE | ID: mdl-15570769

ABSTRACT

A 25-year-old male was discovered to have an asymptomatic pericardial effusion during routine pre-employment medical evaluation. During pericardiocentesis 1200 ml of milky-white fluid was obtained; subsequent biochemical evaluation confirmed the chylous nature of this fluid. Following thorough evaluation a diagnosis of isolated chylopericardium was made. Following several recurrences he underwent thoracotomy with ligation of the thoracic duct and creation of a pericardial window. There are relatively few published reports of true isolated chylopericardium and the aetiology and pathogenesis remain unknown. A primary abnormality of the thoracic lymphatic valve system is postulated. The most effective treatment is surgical with ligation of the thoracic duct above the diaphragm and creation of a pericardial window


Subject(s)
Pericardial Effusion , Adult , Chyle , Humans , Male , Pericardial Effusion/diagnostic imaging , Pericardial Effusion/etiology , Pericardial Effusion/surgery , Radiography , Recurrence
19.
Heart ; 87(4): 322-8, 2002 Apr.
Article in English | MEDLINE | ID: mdl-11907001

ABSTRACT

OBJECTIVE: To determine the effect of multisite pacing on left ventricular function. DESIGN: Prospective observational study. PATIENTS: 18 patients with heart failure with a dilated poorly functioning left ventricle (LV) and left bundle branch block. INTERVENTIONS: Pacing for 5 minutes in random order at the right ventricle (RV) apex, RV outflow tract, mid posterolateral LV, RV apex and LV simultaneously, and RV outflow tract and LV simultaneously. The best achieved measurements with RV, LV, and biventricular pacing were compared. MAIN OUTCOME MEASURES: LV dimension, filling characteristics, and long axis indices were measured on echocardiography simultaneously with LV pressure. Cycle efficiency (%)--that is, the ratio of the area of the acquired pressure dimension loop to that of the ideal loop for that segment--quantified coordination. RESULTS: The pacing site that gave the best achieved cycle efficiency differed between patients (biventricular in five, LV in two, RV in seven, and no site in four). In patients with baseline incoordination (cycle efficiency < or = 72%, n = 12) cycle efficiency improved significantly with RV pacing (cycle efficiency 76%, p = 0.01) but not with LV (65%) or biventricular (67%) pacing. LV based pacing induced premature short axis contraction in a subset of patients (n = 4), which was associated with a prolonged time from the Q wave on the ECG to the onset of inward movement of the long axis (from apex to mitral ring): biventricular 145 ms, LV 105 ms, RV 85 ms (biventricular v RV, p < 0.05). Excluding patients with baseline incoordination in whom premature activation occurred, pacing at all sites led to a similar increase in cycle efficiency (RV 78%, LV 72%, biventricular 73%). CONCLUSIONS: Ventricular coordination can be improved with pacing in patients with baseline incoordination. Short and long axis fibres may be asynchronised in a subset of patients with LV or biventricular pacing, which may worsen coordination. The clinical significance of these findings remains to be defined.


Subject(s)
Bundle-Branch Block/therapy , Cardiac Pacing, Artificial/methods , Ventricular Dysfunction, Left/therapy , Aged , Bundle-Branch Block/physiopathology , Cardiac Output, Low/physiopathology , Echocardiography , Female , Humans , Male , Middle Aged , Pressure , Prospective Studies , Ventricular Dysfunction, Left/physiopathology , Ventricular Premature Complexes/physiopathology
20.
Heart ; 87(3): 270-5, 2002 Mar.
Article in English | MEDLINE | ID: mdl-11847170

ABSTRACT

BACKGROUND: Hypertrophic cardiomyopathy (HCM) is an inherited disease of the sarcomere characterised clinically by myocardial hypertrophy and its consequences. Phenotypic expression is heterogeneous even within families with the same aetiological mutation and may be influenced by additional genetic factors. OBJECTIVE: To determine the influence of genetic polymorphisms of the renin-angiotensin-aldosterone system (RAAS) on ECG and two dimensional echocardiographic left ventricular hypertrophy (LVH) in genetically identical patients with HCM. PATIENTS AND METHODS: Polymorphisms of five RAAS components were determined in 26 gene carriers from a single family with HCM caused by a previously identified myosin binding protein C mutation. Genotypes associated with a higher activation status of the RAAS were labelled "pro-LVH genotypes". RESULTS: There was a non-biased distribution of pro-LVH genotypes in the gene carriers. Those without pro-LVH genotypes did not manifest cardiac hypertrophy whereas gene carriers with pro-LVH genotypes did (mean (SD) left ventricular muscle mass 190 (48) v 320 (113), p = 0.002; interventricular septal thickness 11.5 (2.0) v 16.4 (6.7), p = 0.01; pathological ECG 0% (0 of 10) v 63% (10 of 16), respectively). Multivariate analysis controlling for age, sex, and hypertension confirmed an independent association between the presence of pro-LVH polymorphisms and left ventricular mass. When each polymorphism was assessed individually, carriers of each pro-LVH genotype had a significantly greater left ventricular mass than those with no pro-LVH mutation; these associations, with the exception of cardiac chymase A AA polymorphism (p = 0.06), remained significant in multivariate analysis. CONCLUSION: Genetic polymorphisms of the RAAS influence penetrance and degree of LVH in 26 gene carriers from one family with HCM caused by a myosin binding protein C mutation.


Subject(s)
Cardiomyopathy, Hypertrophic, Familial/genetics , Carrier Proteins/genetics , Hypertrophy, Left Ventricular/genetics , Mutation/genetics , Polymorphism, Genetic/genetics , Renin-Angiotensin System/genetics , Age Factors , Aged , Cardiomyopathy, Hypertrophic, Familial/complications , Female , Gene Frequency , Genotype , Heterozygote , Humans , Hypertension/complications , Hypertrophy, Left Ventricular/complications , Male , Middle Aged , Multivariate Analysis , Pedigree , Phenotype , Sex Factors
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