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1.
QJM ; 110(10): 629-637, 2017 Oct 01.
Artigo em Inglês | MEDLINE | ID: mdl-28472518

RESUMO

BACKGROUND: Increases in physical activity ameliorate low-grade systemic inflammation in disease populations such as type 2 diabetes mellitus and coronary artery disease. The effects of aerobic and resistance training (RT) on inflammatory biomarker profiles in non-disease, physically inactive individuals are unknown. METHODS: A systematic review of randomized controlled trials measuring the effect of aerobic and resistance exercise on pro-inflammatory biomarkers in healthy, inactive adult populations was conducted. The available peer-reviewed literature was searched from January 1990 to June 2016 using the electronic databases PubMed and Scopus. A narrative synthesis of review findings was constructed with discussion of the impact of aerobic, resistance and combined training on C-reactive protein (CRP), interleukin-6 (IL-6), interleukin-8, interleukin-1ß and tumour necrosis factor-α. RESULTS: The initial search revealed 1596 potentially relevant studies. Application of the study eligibility criteria led to the full-text review of 54 articles with 11 studies deemed suitable for inclusion. Review of related articles and the reference lists of the 54 full-text articles led to the inclusion of 2 additional studies. The review revealed inconsistent findings relating to the effect of aerobic training and RT on CRP and IL-6. Studies of older-aged adults (>65 years old) demonstrated the greatest and most consistent reduction in inflammatory biomarkers post-training intervention. CONCLUSIONS: A paucity of evidence exists relating to the effect of exercise training on inflammatory markers in non-disease, physically inactive adults. The available evidence suggests potential for the greatest benefit to be seen in older populations and with higher intensity aerobic exercise.


Assuntos
Proteína C-Reativa/análise , Exercício Físico , Interleucina-6/sangue , Treinamento Resistido , Biomarcadores/análise , Voluntários Saudáveis , Humanos , Ensaios Clínicos Controlados Aleatórios como Assunto
2.
Int J Sports Med ; 37(5): 359-63, 2016 May.
Artigo em Inglês | MEDLINE | ID: mdl-26859645

RESUMO

Body composition assessment is an integral feature of elite sport as optimization facilitates successful performance. This study aims to refine the use of B-mode ultrasound in the assessment of athlete body composition by determining suitable sites for measurement. 67 elite athletes recruited from the Human Performance Laboratory, University College Cork, Ireland, underwent dual measurement of body composition. Subcutaneous adipose tissue thickness at 7 anatomical sites were measured using ultrasound and compared to percentage body fat values determined using Dual-Energy X-ray Absorptiometry. Multiple linear regressions were performed and an equation to predict percentage body fat was derived. The present study found subcutaneous adipose tissue depths at the triceps, biceps, anterior thigh and supraspinale sites correlated significantly with percentage body fat by X-ray absorptiometry (all p<0.05). Summation of the depths at these locations correlated strongly with percentage body fat by Dual-Energy X-ray Absorptiometry (R²=0.879). The triceps, biceps, anterior thigh and supraspinale sites are suitable anatomical landmarks for the estimation of %BF using B-mode ultrasound. Use of B-mode ultrasound in the assessment of athlete body composition confers many benefits including lack of ionising radiation and its potential to be used as a portable field tool.


Assuntos
Adiposidade , Atletas , Dobras Cutâneas , Gordura Subcutânea/diagnóstico por imagem , Ultrassonografia , Absorciometria de Fóton , Adolescente , Adulto , Braço/diagnóstico por imagem , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Coxa da Perna/diagnóstico por imagem , Adulto Jovem
3.
Ir J Med Sci ; 185(2): 521-8, 2016 May.
Artigo em Inglês | MEDLINE | ID: mdl-26026952

RESUMO

BACKGROUND: Concussion is a traumatic brain injury, resulting in the alteration of mental status with or without loss of consciousness. There is increasing awareness that recurrent concussion may contribute to long-term neurological complication. AIMS: To determine player knowledge and attitudes regarding concussion. To identify sources of information and medical care, and to estimate the incidence of concussion in this group. To determine if player gender and grade of competition are associated with differences in knowledge, attitudes, medical care, and incidence. METHODS: Five rugby teams were recruited and players invited to complete a paper-based questionnaire. The questionnaire sought information on player demographics, knowledge level, attitudes and concussion experience. RESULTS: 90.8 % of players knew they should not continue playing when concussed. 75 % of players would continue an important game even if concussed. Of those concussed, 39.1 % have tried to influence medical assessment with 78.2 % stating it is possible or quite easy to do so. Males are less likely to worry about long-term effects of concussion (χ (2) = 9.23, p = 0.026). Club players are less likely to have medical care at training (χ (2) = 28.2, p < 0.001) or matches (χ (2) = 19.47 p < 0.001). CONCLUSION: Despite good knowledge of concussion complications, management players engage in unsafe behaviour with little difference between gender and competition grades. Information regarding symptoms and management should be available to all players, coaches, and parents. Provision of medical care should be mandatory at every level of competition.


Assuntos
Concussão Encefálica/etiologia , Futebol Americano/lesões , Conhecimentos, Atitudes e Prática em Saúde , Adolescente , Adulto , Traumatismos em Atletas/etiologia , Concussão Encefálica/diagnóstico , Lesões Encefálicas Traumáticas/etiologia , Estudos Transversais , Feminino , Humanos , Incidência , Masculino , Inquéritos e Questionários , Adulto Jovem
5.
Emerg Med J ; 26(8): 590-5, 2009 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-19625558

RESUMO

OBJECTIVE: To investigate the epidemiology of sports and recreation-related injury (SRI) among emergency department (ED) attendees. DESIGN: Descriptive epidemiology study. SETTING: An Irish university hospital ED. PARTICIPANTS: All patients aged over 4 years attending a large regional ED, during a 6-month period, for the treatment of SRI were prospectively surveyed. ASSESSMENT OF RISK FACTORS: In all cases identified as SRI the attending physician completed a specifically designed questionnaire. It was postulated that recreation-related injury is a significant proportion of reported SRI. RESULTS: Fracture rate was highest in the 4-9-year age group (44%). On multivariate logistic regression the adjusted odds ratio (OR; 95% CI) of fracture was higher for children (vs adults) at 1.21 (1.0 to 1.45). The adjusted OR was higher for upper-limb 5.8 (4.5 to 7.6) and lower-limb injuries 1.87 (1.4 to 2.5) versus axial site of injury and for falls 2.2 (1.6 to 2.9) and external force 1.59 (1.2 to 2.1) versus an overextension mechanism of injury. In the same model, "play" was independently associated with fracture risk, adjusted OR 1.98 (1.2 to 3.0; p = 0.001) versus low-risk ball sports 1.0 (reference); an effect size similar to that seen for combat sports 1.96 (1.2 to 3.3; p = 0.01) and greater than that seen for presumed high-risk field sports 1.4 (0.9 to 2.0) CONCLUSION: Fall and subsequent upper-limb injury was the commonest mechanism underlying SRI fracture. Domestic "play" in all age groups at the time of injury accorded a higher fracture risk than field sports. Patient education regarding the dangers of unsupervised play and recreation represents a means of reducing the burden of SRI.


Assuntos
Traumatismos em Atletas/epidemiologia , Serviço Hospitalar de Emergência/estatística & dados numéricos , Terapia por Exercício , Fraturas Ósseas/epidemiologia , Recreação , Adolescente , Adulto , Traumatismos em Atletas/prevenção & controle , Criança , Pré-Escolar , Feminino , Fraturas Ósseas/prevenção & controle , Humanos , Irlanda , Masculino , Estudos Prospectivos
6.
Ir Med J ; 102(2): 40-2, 2009 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-19405315

RESUMO

The health benefits of exercise may be attenuated by sports and recreation related injury (SRI). Though the majority of SRI are mild and self-limiting, a significant number are serious and require orthopaedic intervention. The aims of this study were to assess the burden of these serious injuries on the orthopaedic inpatient service, and to investigate potential target areas for injury prevention. All 1,590 SRI seen in the ED over a 3-month period were analysed using the Patient Information Management System to determine which patients received inpatient orthopaedic care. The medical records of those 63 patients who required inpatient care under orthopaedics were reviewed and data collected on demographic features, history, operative procedure and theatre resources, and length of hospital stay. Data were analyzed using SPSS. SRI accounted for 12.3% of all ED presentations. The principal activities resulting in injury requiring orthopaedic care were soccer, hurling and informal play e.g. trampoline. Falls made up 37% of the overall mechanism of injury but 68% of the injuries severe enough to require operative management. Most operative procedures were performed as part of a routine day trauma list but 20% were performed out of hours. This group of injuries places a significant burden on a busy trauma service. Injury prevention measures such as public education regarding falls in sport may have a role in reducing this burden.


Assuntos
Traumatismos em Atletas/epidemiologia , Traumatismos em Atletas/cirurgia , Hospitalização/estatística & dados numéricos , Procedimentos Ortopédicos/estatística & dados numéricos , Adolescente , Adulto , Idoso , Criança , Pré-Escolar , Feminino , Fraturas Ósseas/epidemiologia , Fraturas Ósseas/cirurgia , Humanos , Gestão da Informação , Irlanda/epidemiologia , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Adulto Jovem
7.
Br J Sports Med ; 42(6): 452-9, 2008 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-18539659

RESUMO

OBJECTIVE: to determine the incidence, nature and causes of injuries sustained during the International Rugby Board (IRB) Rugby World Cup 2007. DESIGN: Pospective, whole-population survey. POPULATION: 626 international rugby players representing 20 teams competing at the IRB Rugby World Cup 2007 in France. METHODS: The survey followed the international consensus procedures for studies of injuries in rugby union; the main outcome measures were incidence of match and training injuries (number of injuries/1000 player hours), severity (days absence), location, type and cause of injury. RESULTS: the incidence of injuries was 83.9/1000 player-match hours (forwards 84.0; backs 83.7) and 3.5/1000 player-training hours (forwards 3.5; backs 3.6). The average severity of injuries was 14.7 days (forwards 14.0; backs 15.5) during matches and 17.8 (forwards 15.9; backs 19.8) during training. Lower limb muscle and ligament injuries were the main injuries during both matches and training. Most injuries were sustained in the tackle during matches and in full-contact skills activities during training. CONCLUSIONS: This study shows the application of the methodology described in the international consensus statement on injury surveillance studies in rugby union and provides benchmark values for the incidence, severity, nature and causes of match and training injuries sustained during the IRB Rugby World Cup.


Assuntos
Futebol Americano/lesões , Traumatismos em Atletas/epidemiologia , Traumatismos em Atletas/etiologia , Traumatismos em Atletas/fisiopatologia , Comportamento Competitivo/fisiologia , Futebol Americano/fisiologia , Humanos , Incidência , Escala de Gravidade do Ferimento , Educação Física e Treinamento/métodos , Estudos Prospectivos , Fatores de Risco
8.
Br J Sports Med ; 42(6): 447-51, 2008 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-18424486

RESUMO

BACKGROUND: Although there have been reports of injury rates in men's World Cup rugby, there has been no research into injury rates in women's international rugby. OBJECTIVE: To determine the rate of injury at the 2006 Women's Rugby World Cup (WRWC). METHODS: All participating teams in the 2006 WRWC were enrolled prospectively in this study. Healthcare workers for each team collected data on training and game exposure and information on injuries. RESULTS: 55 players (16%) sustained at least one injury (10.0/1000 player hours); 4 players (1%) sustained two injuries. 45 injuries occurred during games (37.5/1000 player hours) and 14 injuries occurred during practice (12.5/1000 player hours), a statistically significant difference (RR = 12.5, 95% CI 6.9 to 22.8). The injury rate was 39.3/1000 player hours for the forwards and 42.2/1000 player hours for the backs (RR = 1.3, 95% CI 0.7 to 2.3). The front row had the highest injury rate (62.5/1000 player hours). 63.6% of injuries occurred during the tackle. Most injuries occurred to the neck, knee and head/face. The majority of injuries were sprains, muscle injuries and contusions. There were five fractures during the event and four reported concussions. CONCLUSION: Female players sustained a considerable rate of injury during the 2006 WRWC. Backs had a slightly higher rate of injury than forwards, but the players most often injured were in the front row. The neck/cervical spine and knee were the most commonly injured regions, followed by the head and face. This is the first study to examine injury rates in female rugby players at a World Cup and reports valuable data in this population.


Assuntos
Futebol Americano/lesões , Adulto , Traumatismos em Atletas/epidemiologia , Comportamento Competitivo/fisiologia , Feminino , Humanos , Escala de Gravidade do Ferimento , Estudos Prospectivos
9.
Clin J Sport Med ; 17(3): 177-81, 2007 May.
Artigo em Inglês | MEDLINE | ID: mdl-17513907

RESUMO

Wide variations in the definitions and methodologies used for studies of injuries in rugby union have created inconsistencies in reported data and made interstudy comparisons of results difficult. The International Rugby Board established a Rugby Injury Consensus Group (RICG) to agree on appropriate definitions and methodologies to standardize the recording of injuries and reporting of studies in rugby union. The RICG reviewed the consensus definitions and methodologies previously published for football (soccer) at a meeting in Dublin to assess their suitability for and application to rugby union. Following this meeting, iterative draft statements were prepared and circulated to members of the RICG for comment; a follow-up meeting was arranged in Dublin at which time all definitions and procedures were finalized. At this stage, all authors confirmed their agreement with the consensus statement. The agreed-on document was presented to and approved by the International Rugby Board Council. Agreement was reached on definitions for injury, recurrent injury, nonfatal catastrophic injury, and training and match exposures together with criteria for classifying injuries in terms of severity, location, type, diagnosis, and causation. The definitions and methodology presented in this consensus statement for rugby union are similar to those proposed for football. Adoption of the proposals presented in this consensus statement should ensure that more consistent and comparable results will be obtained from studies of injuries within rugby union.


Assuntos
Consenso , Futebol Americano , Ferimentos e Lesões/classificação , Humanos , Projetos de Pesquisa/normas , Reino Unido
10.
Ir J Med Sci ; 175(2): 32-6, 2006.
Artigo em Inglês | MEDLINE | ID: mdl-16872026

RESUMO

BACKGROUND: Rheumatoid arthritis is a common, disabling, autoimmune disease with significant psychiatric sequelae. AIMS: We aimed to identify the prevalence of depression and anxiety in patients with rheumatoid arthritis attending hospitals, and to elucidate the role played by illness variables, disability variables and psychosocial variables in predicting levels of depression and anxiety. METHODS: We assessed depression, anxiety, arthritis-related pain, arthritis-related disability and perceived social support in 68 adults with rheumatoid arthritis. RESULTS: Sixty-five per cent of patients had evidence of depression (37.5% moderate or severe) and 44.4% had evidence of anxiety (17.8% moderate or severe). Both depression and anxiety were highly correlated with several measures of arthritis-related pain and functional impairment. After controlling for age, gender, marital status and duration of arthritis, perceived social support was a highly significant independent predictor of both depression and anxiety. CONCLUSIONS: These findings suggest that increasing social support may be particularly important in the management of depression and anxiety in rheumatoid arthritis.


Assuntos
Transtornos de Ansiedade/epidemiologia , Artrite Reumatoide/psicologia , Transtorno Depressivo/epidemiologia , Percepção Social , Apoio Social , Artrite Reumatoide/complicações , Feminino , Humanos , Irlanda/epidemiologia , Masculino , Pessoa de Meia-Idade , Papel do Doente
11.
Clin Rheumatol ; 25(6): 789-93, 2006 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-16572289

RESUMO

To examine the expression of the apoptosis regulatory protein, Bcl-x(L), in the synovium of patients with rheumatoid arthritis (RA) and osteoarthritis (OA). Immunohistochemistry for Bcl-x(L) was carried out on synovial samples from patients with RA and OA. Reverse transcriptase polymerase chain reaction (RT-PCR) and Western blot analysis were performed to qualitatively examine the expression of Bcl-x(L). Bcl-x(L) expression was detected in the lining, endothelium and inflammatory cells of both RA (n=20) and OA (n=10) samples. However, there was significantly more expression in the lining of RA synovium compared to OA (77 vs 61%, p<0.05). Many of the positive cells in the RA subsynovium were noted to be plasma cells. There was a significant correlation between Bcl-x(L) expression and the number of inflammatory cells in the subsynovium of RA and OA patients (r (s)=0.376, p<0.05, n=30). Age and disease duration did not correlate with Bcl-x(L) expression in rheumatoid patients. Bcl-x(L) may play a role in the extended survival of synoviocytes and inflammatory cells in rheumatoid synovium.


Assuntos
Artrite Reumatoide/metabolismo , Membrana Sinovial/metabolismo , Proteína bcl-X/metabolismo , Idoso , Envelhecimento/metabolismo , Artrite Reumatoide/patologia , Western Blotting , Células Endoteliais/metabolismo , Feminino , Humanos , Imuno-Histoquímica , Masculino , Pessoa de Meia-Idade , Osteoartrite/metabolismo , Osteoartrite/patologia , Plasmócitos/metabolismo , RNA Mensageiro/metabolismo , Reação em Cadeia da Polimerase Via Transcriptase Reversa , Coloração e Rotulagem , Membrana Sinovial/patologia , Fatores de Tempo , Proteína bcl-X/genética
12.
Immunogenetics ; 57(12): 893-903, 2006 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-16362817

RESUMO

Many genes in the central region of the major histocompatibility complex (MHC) encode proteins involved in immune and inflammatory responses. In this study, we have further characterized two genes in the MHC class IV region, leucocyte-specific transcript (LST) 1 and natural cytotoxicity-triggering receptor 3 (NCR3) (also known as 1C7 and natural killer (NK)p30). The specific function of LST1 is not known, although expression analysis and functional data suggest an immunomodulatory role. The LST1 gene undergoes extensive alternative splicing, giving rise to both membrane-bound (encoded by exon 3) and soluble isoforms. The NCR3 protein is involved in NK-mediated cytotoxicity and plays a role in NK/dendritic cell crosstalk. Expression of these genes was examined, by real-time reverse transcriptase-polymerase chain reaction, in autoimmune-induced inflammation, specifically rheumatoid-arthritis-affected blood and synovium, and in response to stimulation with inflammatory mediators and bacterial agents. The expression of LST1, specifically splice variants encoding soluble isoforms and NCR3, was increased in rheumatoid-arthritis-affected blood and synovium and was associated with more severe inflammation in the synovium. Furthermore, both genes were significantly up-regulated in response to lipopolysaccharide, interferon (IFN)-gamma and bacterial infection. These findings suggest that NCR3 and soluble isoforms of LST1 may play a role in inflammatory and infectious diseases.


Assuntos
Artrite Reumatoide/genética , Artrite Reumatoide/imunologia , Proteínas Sanguíneas/genética , Receptores Imunológicos/genética , Artrite Reumatoide/patologia , Sequência de Bases , Estudos de Casos e Controles , Células Dendríticas/efeitos dos fármacos , Células Dendríticas/imunologia , Expressão Gênica , Variação Genética , Humanos , Técnicas In Vitro , Interferon gama/farmacologia , Peptídeos e Proteínas de Sinalização Intracelular , Células Matadoras Naturais/efeitos dos fármacos , Células Matadoras Naturais/imunologia , Lipopolissacarídeos/farmacologia , Proteínas de Membrana , Receptor 3 Desencadeador da Citotoxicidade Natural , Pseudomonas aeruginosa/imunologia , Pseudomonas aeruginosa/patogenicidade , RNA Mensageiro/genética , RNA Mensageiro/metabolismo , Proteínas Recombinantes , Staphylococcus aureus/imunologia , Staphylococcus aureus/patogenicidade , Membrana Sinovial/imunologia , Membrana Sinovial/patologia , Células U937
13.
Postgrad Med J ; 80(944): 366-7, 2004 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-15192176

RESUMO

Lupus myocarditis is a life threatening complication of systemic lupus erythematosus (SLE). A case of left ventricular failure secondary to myocarditis occurring in a patient with SLE is reported. Despite resolution of the cardiac failure with pulsed cyclophosphamide and steroids, she eventually died of non-cardiac complications 18 months later. The literature is also reviewed.


Assuntos
Lúpus Eritematoso Sistêmico/complicações , Miocardite/etiologia , Adulto , Evolução Fatal , Feminino , Humanos , Prognóstico , Disfunção Ventricular Esquerda/etiologia
15.
Bone ; 33(6): 970-4, 2003 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-14678857

RESUMO

Celiac disease (CD) is a relatively common gastrointestinal disorder that can be asymptomatic. An increased prevalence of subclinical CD has been reported in many populations. Even among asymptomatic patients a reduction in bone mineral density (BMD) has been observed. The aim of this study was to evaluate the prevalence of silent CD in a cohort of consecutive individuals referred for bone densitometry measurement. Serum samples were taken from 454 women attending for bone densitometry (mean age: 56 +/- 11 years). Of the individuals evaluated, 89 had normal BMD and 365 had low BMD (T score < -1.0). Subjects were screened for the presence of serum IgA anti-endomysial antibodies (EMA) and IgA tissue transglutaminase (tTG) antibodies by indirect immunofluorescence and enzyme-linked immunosorbent assay (ELISA), respectively. BMD was measured by dual X-ray absorptiometry (DEXA) at the lumbar spine and femoral neck. Eight EMA tTG-positive individuals were identified in this population (1.8% or 1:57). Serologically positive women had a lower mean Z score at both the lumbar spine and femoral neck than EMA tTG-negative women. But this did not approach significance. There was no significant difference in the incidence of CD between the normal- and low-BMD groups in this dataset (P = 0.365). In conclusion, our study indicates that the prevalence of CD in our dataset is high. However, the frequency of asymptomatic CD among low-BMD individuals is similar to that among normal-BMD individuals in our population. These observations do not support the hypothesis that serological testing for CD may be a good accompaniment to DEXA scanning.


Assuntos
Densidade Óssea , Doença Celíaca/epidemiologia , Absorciometria de Fóton , Adulto , Idoso , Idoso de 80 Anos ou mais , Autoanticorpos/sangue , Autoanticorpos/imunologia , Doenças Ósseas Metabólicas/diagnóstico , Doenças Ósseas Metabólicas/imunologia , Doença Celíaca/diagnóstico , Interpretação Estatística de Dados , Esôfago/imunologia , Feminino , Proteínas de Ligação ao GTP/imunologia , Humanos , Imunoglobulina A/sangue , Imunoglobulina A/imunologia , Irlanda/epidemiologia , Vértebras Lombares/química , Programas de Rastreamento , Pessoa de Meia-Idade , Proteína 2 Glutamina gama-Glutamiltransferase , Transglutaminases/imunologia
16.
Calcif Tissue Int ; 72(6): 651-8, 2003 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-14562992

RESUMO

Osteoporosis is a disease characterized by low bone mineral density (BMD) and poor bone quality. Peak bone density is achieved by the third decade of life, after which bone is maintained by a balanced cycle of bone resorption and synthesis. Age-related bone loss occurs as the bone resorption phase outweighs the bone synthesis phase of bone metabolism. Heritability accounts for up to 90% of the variability in BMD. Chromosomal loci including 1p36, 2p22-25, 11q12-13, parathyroid hormone receptor type 1 (PTHR1), interleukin-6 (IL-6), interleukin 1 alpha (IL-1alpha) and type II collagen A1/vitamin D receptor (COL11A1/VDR) have been linked or shown suggestive linkage with BMD in other populations. To determine whether these loci predispose to low BMD in the Irish population, we investigated 24 microsatellite markers at 7 chromosomal loci by linkage studies in 175 Irish families of probands with primary low BMD (T-score < or = -1.5). Nonparametric analysis was performed using the maximum likelihood variance estimation and traditional Haseman-Elston tests on the Mapmaker/Sibs program. Suggestive evidence of linkage was observed with lumbar spine BMD at 2p22-25 (maximum LOD score 2.76) and 11q12-13 (MLS 2.55). One region, 1p36, approached suggestive linkage with femoral neck BMD (MLS 2.17). In addition, seven markers achieved LOD scores >1.0, D2S149, D11S1313, D11S987, D11S1314 including those encompassing the PTHR1 (D3S3559, D3S1289) for lumbar spine BMD and D2S149 for femoral neck BMD. Our data suggest that genes within a these chromosomal regions are contributing to a predisposition to low BMD in the Irish population.


Assuntos
Densidade Óssea/genética , Cromossomos Humanos Par 11 , Cromossomos Humanos Par 2 , Escore Lod , Vértebras Lombares/metabolismo , Adulto , Idoso , Idoso de 80 Anos ou mais , Doenças Ósseas Metabólicas/epidemiologia , Doenças Ósseas Metabólicas/genética , Saúde da Família , Feminino , Humanos , Irlanda/epidemiologia , Masculino , Pessoa de Meia-Idade , Osteoporose Pós-Menopausa/epidemiologia , Osteoporose Pós-Menopausa/genética , Irmãos
17.
Calcif Tissue Int ; 71(1): 26-35, 2002 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-12073153

RESUMO

Low bone mineral density (BMD) is a major risk factor for the development of osteoporosis and there is strong evidence to suggest that the procurement and preservation of peak BMD is genetically determined. In an effort to identify factors responsible for susceptibility to low BMD in the Irish population, we investigated its possible association with polymorphisms in the Osteoprotegerin (OPG) gene, Type I collagen alpha 1 (COLIA1) Sp1 binding site and vitamin D receptor (VDR) start codon. Following a systematic screening of the regulatory and coding regions of the OPG gene, we identified a novel G1181C polymorphism in exon 1 and a T950C polymorphism in the promoter region of the OPG gene. Participants were recruited from the Bone Densitometry Unit of Cork University Hospital, including 381 postmenopausal women aged 61.26 +/- 8.50 (mean +/- SD) and 130 premenopausal women aged 46.30 +/- 6.50 (mean +/- SD). Following association analysis using both the premenopausal and postmenopausal cohorts we found that postmenopausal women carrying one or more C alleles of the G1181C polymorphism had 14.8% lower BMD (P = 0.05) at the lumbar spine and 14.4% lower BMD (P = 0.04) at the FN. However, both were nonsignificant when the Bonferroni correction factor (0.01 significance level) was applied to correct for multiple hypothesis testing. We found no association between alleles of the T950C OPG polymorphism and BMD. Similarly, we have found a lack of association between the VDR (fok1) polymorphism or COLIA1 Sp1 polymorphism and low BMD in either postmenopausal or premenopausal women in this population.


Assuntos
Densidade Óssea/fisiologia , Colágeno Tipo I/genética , Glicoproteínas/genética , Polimorfismo Genético , Polimorfismo de Nucleotídeo Único , Receptores de Calcitriol/genética , Receptores Citoplasmáticos e Nucleares/genética , Sequência de Bases , Estatura , Peso Corporal , Códon de Iniciação/genética , Primers do DNA , Feminino , Humanos , Irlanda , Programas de Rastreamento , Menopausa , Pessoa de Meia-Idade , Osteoprotegerina , Pós-Menopausa , Pré-Menopausa , Regiões Promotoras Genéticas , Receptores do Fator de Necrose Tumoral , Estudos Retrospectivos
18.
Genes Immun ; 2(2): 82-7, 2001 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-11393661

RESUMO

Tumour necrosis factor (TNF) plays a pivotal role in the pathogenesis of rheumatoid arthritis (RA) and it has been shown that the TNF-lymphotoxin (TNF-LT) region influences susceptibility to RA. To investigate the role of the TNF-LT locus further, inheritance of TNF 5' promoter alleles was determined in multiplex RA families. Six previously defined TNF promoter single nucleotide polymorphisms (SNPs) (-238, -308, -376, -857, -863, -1031) were observed in these families and in addition, a heretofore undocumented adenine (A) to cytosine (C) substitution at position -572 relative to the transcription start site was defined. TNF 5' promoter SNPs were found to co-segregate with specific TNF microsatellite haplotypes. In particular, the SNP -308A allele was found to be inherited with the TNF a2, b3, c1, d1, e3 (H2) microsatellite haplotype (P < 0.001) which had previously been found to be associated with RA in individuals heterozygous for the HLA-DR 'shared epitope' (SE). When the data were stratified by the presence of the SE with further stratification according to SE DR subtypes and analysed by transmission disequilibrium test (TDT) for which offspring were assumed independent, the -308A and -857T alleles were found to be associated with RA in patients carrying the SE (P = 0.0076 and 0.0063 respectively). The data were further stratified to analyse for association in individuals homozygous or heterozygous for SE alleles. Results showed that the -308A allele was significantly associated with RA susceptibility in individuals heterozygous for the SE (P < 0.001) with the significance only occurring in patients carrying HLA-DR4 (P < 0.001), while the -857T allele was significant in individuals homozygous for the SE (P = 0.0039). Further analysis using the pedigree disequilibrium test (PDT) which conservatively adjusts for all sources of familial correlation except that conferred by linkage disequilibrium still indicated a significant role for the -308A and -857T alleles. These data provide evidence that TNF promoter SNPs may play an independent role in RA susceptibility in specific immunogenetically-defined groups of RA patients.


Assuntos
Artrite Reumatoide/genética , Predisposição Genética para Doença , Polimorfismo de Nucleotídeo Único , Regiões Promotoras Genéticas , Fator de Necrose Tumoral alfa/genética , Artrite Reumatoide/imunologia , Artrite Reumatoide/fisiopatologia , Antígenos HLA-DR/genética , Haplótipos , Humanos , Repetições de Microssatélites/genética
19.
Ir Med J ; 94(10): 310, 2001.
Artigo em Inglês | MEDLINE | ID: mdl-11837631

RESUMO

Recurrent gastrointestinal haemorrhage is an uncommon manifestation of systemic sclerosis. We report a case of gastrointestinal bleeding due to gastric antral vascular ectasia (GAVE) in a patient with systemic sclerosis. Failure to recognise the condition as a cause of gastrointestinal bleeding may delay the instigation of appropriate treatment. GAVE should be considered in the differential diagnosis of anaemia in patients with autoimmune conditions such as systemic sclerosis and primary biliary cirrhosis.


Assuntos
Anemia Refratária/etiologia , Ectasia Vascular Gástrica Antral/complicações , Escleroderma Sistêmico/complicações , Idoso , Transfusão de Sangue , Feminino , Ectasia Vascular Gástrica Antral/diagnóstico , Ectasia Vascular Gástrica Antral/terapia , Gastroscopia , Hemorragia/etiologia , Hemorragia/terapia , Humanos , Fotocoagulação
20.
J Med Genet ; 36(3): 214-6, 1999 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-10204847

RESUMO

Tumour necrosis factor (TNF) is a key proinflammatory mediator in rheumatoid arthritis (RA). The TNF locus, situated in the class III region of the MHC, is flanked by five microsatellite markers. It has previously been shown that this region influences susceptibility to RA; two TNF microsatellite haplotypes were found to be associated with RA. Evidence from murine studies has indicated that variation in the TNF 3' untranslated region (UTR) could be associated with altered regulation of TNF biosynthesis. In order to identify possible RA associated polymorphisms, more than 800 bp of the TNF 3' UTR was genetically analysed in RA affected and unaffected subjects possessing specific RA and non-RA associated TNF microsatellite haplotypes. The TNF 3' UTR region was analysed using two mutation detection methods, PCR-SSCP and NIRCA analysis and DNA sequencing. No genetic differences were observed in the human TNF 3' UTR between subjects, that is, irrespective of RA status or TNF haplotype, and also compared with previously published TNF sequences from human sources. Therefore it can be concluded that the TNF 3' UTR in this population was highly conserved and did not influence susceptibility to RA.


Assuntos
Regiões 3' não Traduzidas , Artrite Reumatoide/genética , Fator de Necrose Tumoral alfa/genética , Artrite Reumatoide/imunologia , Sequência Conservada , Humanos , Reação em Cadeia da Polimerase/métodos , Polimorfismo Conformacional de Fita Simples
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