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OBJECTIVE: Although a significant number of professionals who provide eating disorder (ED) treatment have lived experience with an ED in the past, there is no consensus on whether these professionals should use these experiences in treatment. This review aims to evaluate current literature on recovered professionals with an ED past treating ED patients, unravelling advantages and disadvantages in treatment, the impact on professionals and their surroundings, and implications for practice. METHOD: A systematic literature search was conducted which included 10 articles. We analysed qualitative data through a systematic synthesis. Strength of evidence was calculated for each subtheme. RESULTS: Three themes and 14 subthemes were divided into categories. The category 'treatment (patient-professional interaction)' was divided into: advantages, disadvantages and other implications for treatment. Additionally, the category 'professionals themselves' included subthemes that directly impact or relate to ED professionals: recovery as a non-linear process, the significant role of self-care and adverse feelings of professionals. Finally, the category 'work settings' included: company culture and training, supervision and professional development. DISCUSSION: Recovered ED professionals are a promising addition to ED treatment due to the enhanced expertise of the professional. However, attention should be paid to the risk of distorted boundaries between patient and professional.
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Transtornos da Alimentação e da Ingestão de Alimentos , Relações Profissional-Paciente , Humanos , Transtornos da Alimentação e da Ingestão de Alimentos/terapia , Pessoal de Saúde/psicologiaRESUMO
BACKGROUND: Joint space narrowing (JSN) in rheumatoid arthritis (RA) may be a manifestation of (primary) osteoarthritis becoming more prominent with age. We investigated the severity and predictors of JSN progression among different age groups. METHODS: 10-year follow-up data of the BeSt study, a randomised controlled treat-to-target trial in early RA were used. Annual X-rays of hands and feet were scored using the Sharp/van der Heijde score (SHS). Subgroups were defined by age at baseline: ≥55, ≥40<55 and <40â years. JSN progression predictors were assessed by Poisson regression. RESULTS: Baseline JSN scores (median (IQR)) were higher in patients ≥55 (2.0 (0.0-6.0)) compared with the other age groups: 1.0 (0.0-3.0) ≥40<55 and 0.3 (0.0-3.0) <40, p<0.001. After 10â years, total JSN and SHS were similar in all age groups. In patients ≥55 the mean erythrocyte sedimentation rate (ESR) over time (relative risk 1.02 (95% CI 1.00 to 1.03)) and the combined presence of rheumatoid factor and anticitrullinated protein antibodies (RF+/ACPA+) (3.27 (1.25-8.53)) were significantly correlated with JSN progression. In patients <40 the baseline swollen joint count (SJC; 1.09 (1.01-1.18)) and ESR over time (1.04 (1.02-1.06)) were significantly associated. CONCLUSIONS: At baseline, patients with RA ≥55â years had more JSN than younger patients but after 10â years JSN scores were similar between age groups. Independent risk factors for JSN progression were baseline SJC and ESR over time in patients <40, RF+/ACPA+ and ESR over time in patients ≥55â years. This suggests that mechanisms leading to JSN progression are related to (residual) rheumatoid inflammation and vary between age groups. These mechanisms remain to be elucidated. TRIAL REGISTRATION NUMBERS: NTR262, NTR265.
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AIM: To assess whether in early (rheumatoid) arthritis (RA) patients, metacarpal bone mineral density (BMD) loss after 4â months predicts radiological progression after 1â year of antirheumatic treatment. METHODS: Metacarpal BMD was measured 4 monthly during the first year by digital X-ray radiogrammetry (DXR-BMD) in patients participating in the IMPROVED study, a clinical trial in 610 patients with recent onset RA (2010 criteria) or undifferentiated arthritis, treated according to a remission (disease activity score<1.6) steered strategy. With Sharp/van der Heijde progression ≥0.5 points after 1â year (yes/no) as dependent variable, univariate and multivariate logistic regression analyses were performed. RESULTS: Of 428 patients with DXR-BMD results and progression scores available, 28 (7%) had radiological progression after 1â year. Independent predictors for radiological progression were presence of baseline erosions (OR (95% CI) 6.5 (1.7 to 25)) and early DXR-BMD loss (OR (95% CI) 1.5 (1.1 to 2.0)). In 366 (86%) patients without baseline erosions, early DXR-BMD loss was the only independent predictor of progression (OR (95% CI) 2.0 (1.4 to 2.9)). CONCLUSIONS: In early RA patients, metacarpal BMD loss after 4â months of treatment is an independent predictor of radiological progression after 1â year. In patients without baseline erosions, early metacarpal BMD loss is the main predictor of radiological progression.
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Antirreumáticos/uso terapêutico , Artrite Reumatoide/diagnóstico por imagem , Artrite Reumatoide/tratamento farmacológico , Densidade Óssea , Ossos Metacarpais/diagnóstico por imagem , Absorciometria de Fóton , Artrite Reumatoide/patologia , Progressão da Doença , Feminino , Humanos , Hidroxicloroquina/uso terapêutico , Masculino , Metotrexato/uso terapêutico , Pessoa de Meia-Idade , Prednisona/uso terapêutico , Sulfassalazina/uso terapêuticoRESUMO
OBJECTIVES: To assess which treatment strategy is most effective in inducing remission in early (rheumatoid) arthritis. METHODS: 610 patients with early rheumatoid arthritis (RA 2010 criteria) or undifferentiated arthritis (UA) started treatment with methotrexate (MTX) and a tapered high dose of prednisone. Patients in early remission (Disease Activity Score <1.6 after 4 months) tapered prednisone to zero and those with persistent remission after 8 months, tapered and stopped MTX. Patients not in early remission were randomised to receive either MTX plus hydroxychloroquine plus sulfasalazine plus low-dose prednisone (arm 1) or to MTX plus adalimumab (ADA) (arm 2). If remission was present after 8 months both arms tapered to MTX monotherapy; if not, arm 1 changed to MTX plus ADA and arm 2 increased the dose of ADA. Remission rates and functional and radiological outcomes were compared between arms and between patients with RA and those with UA. RESULTS: 375/610 (61%) patients achieved early remission. After 1 year 68% of those were in remission and 32% in drug-free remission. Of the randomised patients, 25% in arm 1 and 41% in arm 2 achieved remission at year 1 (p<0.01). Outcomes were comparable between patients with RA and those with UA. CONCLUSIONS: Initial MTX and prednisone resulted in early remission in 61% of patients with early (rheumatoid) arthritis. Of those, 68% were in remission and 32% were in drug-free remission after 1 year. In patients not in early remission, earlier introduction of ADA resulted in more remission at year 1 than first treating with disease-modifying antirheumatic drug combination therapy plus prednisone.
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Anti-Inflamatórios/uso terapêutico , Anticorpos Monoclonais Humanizados/uso terapêutico , Antirreumáticos/uso terapêutico , Artrite Reumatoide/tratamento farmacológico , Hidroxicloroquina/uso terapêutico , Metotrexato/uso terapêutico , Prednisona/uso terapêutico , Sulfassalazina/uso terapêutico , Adalimumab , Adulto , Idoso , Artrite/diagnóstico por imagem , Artrite/tratamento farmacológico , Artrite Reumatoide/diagnóstico por imagem , Progressão da Doença , Quimioterapia Combinada/métodos , Intervenção Médica Precoce/métodos , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Radiografia , Indução de Remissão/métodos , Método Simples-Cego , Resultado do TratamentoRESUMO
OBJECTIVE: To determine the effectiveness of increasing the dietary content of soluble fibre (psyllium) or insoluble fibre (bran) in patients with irritable bowel syndrome. DESIGN: Randomised controlled trial. SETTING: General practice. PARTICIPANTS: 275 patients aged 18-65 years with irritable bowel syndrome. INTERVENTIONS: 12 weeks of treatment with 10 g psyllium (n=85), 10 g bran (n=97), or 10 g placebo (rice flour) (n=93). MAIN OUTCOME MEASURES: The primary end point was adequate symptom relief during at least two weeks in the previous month, analysed after one, two, and three months of treatment to assess both short term and sustained effectiveness. Secondary end points included irritable bowel syndrome symptom severity score, severity of abdominal pain, and irritable bowel syndrome quality of life scale. RESULTS: The proportion of responders was significantly greater in the psyllium group than in the placebo group during the first month (57% v 35%; relative risk 1.60, 95% confidence interval 1.13 to 2.26) and the second month of treatment (59% v 41%; 1.44, 1.02 to 2.06). Bran was more effective than placebo during the third month of treatment only (57% v 32%; 1.70, 1.12 to 2.57), but this was not statistically significant in the worst case analysis (1.45, 0.97 to 2.16). After three months of treatment, symptom severity in the psyllium group was reduced by 90 points, compared with 49 points in the placebo group (P=0.03) and 58 points in the bran group (P=0.61 versus placebo). No differences were found with respect to quality of life. Fifty four (64%) of the patients allocated to psyllium, 54 (56%) in the bran group, and 56 (60%) in the placebo group completed the three month treatment period. Early dropout was most common in the bran group; the main reason was that the symptoms of irritable bowel syndrome worsened. CONCLUSIONS: Psyllium offers benefits in patients with irritable bowel syndrome in primary care. TRIAL REGISTRATION: Clinical trials NCT00189033.
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Fibras na Dieta/administração & dosagem , Síndrome do Intestino Irritável/dietoterapia , Plantago , Dor Abdominal/etiologia , Dor Abdominal/prevenção & controle , Adolescente , Adulto , Idoso , Medicina de Família e Comunidade , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Resultado do Tratamento , Adulto JovemRESUMO
OBJECTIVE: The recruitment process may generate a selected patient sample, which may threaten the generalizability of trial results. This risk is particularly high in case disease and patient characteristics demonstrate a wide variation, such as in irritable bowel syndrome (IBS). We compared IBS patients who were selected, approached, and randomized to participate in a clinical trial assessing the efficacy of dietary fiber therapy in IBS. STUDY DESIGN AND SETTING: Retrospective survey in primary care patients diagnosed with IBS by their general practitioner in the past 2 years selected and invited for participation in a trial. Characteristics were compared between randomized patients (n=193) nonrandomized eligible patients (n=371), and patients not eligible for participating in the trial (n=724). RESULTS: Of the 2,100 IBS patients, 1,288 (61%) returned the questionnaire. Randomized patients had a higher intensity of IBS abdominal pain as compared to the other groups, a higher consultation rate and a longer IBS disease history. Noneligible patients had less active IBS symptoms. CONCLUSIONS: Patients randomized do differ from those nonrandomized in IBS disease characteristics. These observations may have implications for the applicability of our research outcome.
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Fibras na Dieta/uso terapêutico , Síndrome do Intestino Irritável/dietoterapia , Seleção de Pacientes , Adolescente , Adulto , Idoso , Humanos , Síndrome do Intestino Irritável/diagnóstico , Pessoa de Meia-Idade , Aceitação pelo Paciente de Cuidados de Saúde/estatística & dados numéricos , Atenção Primária à Saúde/métodos , Viés de Seleção , Índice de Gravidade de Doença , Adulto JovemRESUMO
OBJECTIVE: Type IX collagen proteoglycan is an important protein in collagen networks and has been implicated in hip osteoarthritis (OA). We studied 2 COL9A1 markers (509-8B2 and 509-12B1) in relation to radiographic OA, within the framework of the Rotterdam Study, a population-based study of 7,983 subjects ages 55 years and older. METHODS: We used 2 different designs, as follows: 1) a linkage study of 83 probands with multiple joints affected with radiographic OA and their 221 siblings, yielding 445 sibpairs who participated in the study, and 2) an association study in a series of 71 patients with radiographic hip OA and 269 controls without radiographic OA. All subjects were characterized for the 2 COL9A1 markers, 509-8B2 and 509-12B1. The mean test was used to assess the proportion of alleles shared in concordantly affected and unaffected sibpairs. The chi-square test was used to compare the allele distributions in patients and controls. RESULTS: Affected sibpairs with radiographic hip OA shared alleles identical by descent at markers 8B2 and 12B1 significantly more often than expected (mean +/- SD 0.66 +/- 0.07 and 0.65 +/- 0.08, respectively; P < 0.05). No excess sharing for radiographic OA was observed at other joint sites. When comparing the frequency of marker 8B2 and 12B1 alleles in subjects with radiographic OA and controls, the frequency of 8B2 alleles in subjects with radiographic OA differed significantly(P = 0.01) from that in controls. CONCLUSION: Our data suggest that susceptibility for hip OA is conferred within or close to the COL9A1 gene in linkage disequilibrium with the COL9A1 509-8B2 marker.
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Colágeno Tipo IX/genética , Osteoartrite do Quadril/genética , Polimorfismo Genético , Idoso , Alelos , Estudos de Casos e Controles , Genoma Humano , Genótipo , Humanos , Pessoa de Meia-IdadeRESUMO
OBJECTIVE: To examine the role of an IGF-I gene promoter polymorphism in the prevalence of radiographic osteoarthritis (ROA), and study its interaction with the COL2A1 gene. METHODS: Individuals genotyped for IGF-I (n = 1546) and COL2A1 gene polymorphisms (n = 808) were selected from a random sample (n = 1583) derived from the Rotterdam study. The presence of ROA was defined as a Kellgren score of 2 or more in at least one of four joints (knee, hip, hand, and spine). Genotype specific odds ratios (OR) were adjusted for age, sex, body mass index, and bone mineral density using logistic regression. Interaction with the COL2A1 genotype was tested. RESULTS: Overall, no association was found between the IGF-I polymorphism and ROA. In subjects aged 65 years or younger (n = 971), the prevalence of ROA increased with the absence of the 192 base pair (bp) allele (p for trend = 0.03). Compared with homozygotes for the 192 bp allele, the prevalence of ROA was 1.4 times higher in heterozygotes (95% confidence interval, 1.0 to 1.8) and 1.9 times higher in non-carriers (1.1 to 3.3). There was evidence of interaction between the IGF-I and COL2A1 genes. Individuals with the risk genotype of both genes had an increased prevalence of ROA (OR 3.4 (1.1 to 10.7)). No effect was observed in subjects older than 65 years. SUBJECTS: with genetically determined low IGF-I expression (non-carriers of the 192 bp allele) may be at increased risk of ROA before the age of 65 years. Furthermore, an interaction between the IGF-I and COL2A1 genes is suggested.
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Colágeno Tipo II/genética , Fator de Crescimento Insulin-Like I/genética , Osteoartrite/genética , Polimorfismo Genético/genética , Regiões Promotoras Genéticas/genética , Idoso , Feminino , Heterozigoto , Homozigoto , Humanos , Masculino , Pessoa de Meia-Idade , Osteoartrite/diagnóstico por imagem , Estudos Prospectivos , Radiografia , Fatores de RiscoRESUMO
BACKGROUND: Both high-fibre dietary advice and the prescription of fibre as a bulking agent are very common in primary and secondary care management of irritable bowel syndrome. Irritable bowel syndrome patients with constipation may have delayed intestinal transit. Therefore, fibres that accelerate intestinal transit may be beneficial in these patients. The uncertain benefits reported in several clinical studies, however, have led us to reappraise the value of fibre in irritable bowel syndrome management. AIM: To quantify the effect of different types of fibre on global and symptom relief from irritable bowel syndrome. METHODS: Using a structured literature search in MEDLINE (1966-2002), we selected randomized controlled trials involving irritable bowel syndrome patients treated with fibre. Analyses were performed for the total group and for trials using soluble and insoluble fibre separately. RESULTS: Seventeen studies were included in the analysis. None investigated primary care irritable bowel syndrome patients. Fibre, in general, was effective in the relief of global irritable bowel syndrome symptoms [relative risk, 1.33; 95% confidence interval (CI), 1.19-1.50]. Irritable bowel syndrome patients with constipation may receive benefit from fibre treatment (relative risk, 1.56; 95% CI, 1.21-2.02), but there was no evidence that fibre was effective in the relief of abdominal pain in irritable bowel syndrome. Soluble and insoluble fibre, separately, had different effects on global irritable bowel syndrome symptoms. Soluble fibre (psyllium, ispaghula, calcium polycarbophil) showed significant improvement (relative risk, 1.55; 95% CI, 1.35-1.78), whereas insoluble fibre (corn, wheat bran), in some cases, worsened the clinical outcome, but there was no significant difference compared with placebo (relative risk, 0.89; 95% CI, 0.72-1.11). CONCLUSIONS: The benefits of fibre in the treatment of irritable bowel syndrome are marginal for global irritable bowel syndrome symptom improvement and irritable bowel syndrome-related constipation. Soluble and insoluble fibres have different effects on global irritable bowel syndrome symptoms. Indeed, in some cases, insoluble fibres may worsen the clinical outcome. Future clinical studies evaluating the effect and tolerability of fibre therapy are needed in primary care.
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Doenças Funcionais do Colo/dietoterapia , Fibras na Dieta/uso terapêutico , Fibras na Dieta/análise , Humanos , Ensaios Clínicos Controlados Aleatórios como Assunto , Fatores de Risco , Resultado do TratamentoRESUMO
For quantitative traits with a genetic component, random effects approaches are used to test for linkage at observed marker loci. We propose to use these approaches also for binary outcomes observed in sib pairs derived from a population-based cohort study. In addition to a random effect modelling correlation due to polygenic effect, a random effect is included to model the correlation between siblings due to sharing alleles identical by descent (IBD) at the observed marker locus. A two-step analysis is proposed. Firstly, score statistics are computed to test whether correlation is present in the data. Secondly, random effects models are fitted, yielding heritability estimates. To illustrate the methods, data on the contribution of the COL2A1 gene to various binary and quantitative outcomes including the presence of Heberden's nodes and bone mineral density (BMD) are analysed. For most of the traits studied, the score statistics were significant, indicating the presence of genetic effects. For BMD and for Heberden's nodes, the variance explained by the marker locus was 44% (P = 0.0008) and 15% (P = 0.38) respectively. We conclude that the score statistics can be used as a preliminary data analysis. In more sophisticated analysis, heritabilities can be estimated by fitting random effects models.
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Ligação Genética , Modelos Genéticos , Locos de Características Quantitativas , Interpretação Estatística de Dados , Humanos , Análise de Sequência de DNARESUMO
OBJECTIVES: Although there is growing interest in irritable bowel syndrome (IBS) research, there is as yet no consensus regarding the preferred outcome measure. We aimed to evaluate and to compare the validity and appropriateness of available IBS outcome measures. METHODS: IBS symptom and IBS health-related quality of life (HRQOL) scales were identified through a literature search. In a panel evaluation, six reviewers independently rated the scales according to predetermined psychometric and methodological validation criteria. RESULTS: Five IBS symptom scales and five IBS HRQOL instruments were identified. Two of the symptom scales were rated as good. The Adequate Relief question scored best. This scale demonstrates responsiveness as well as face and construct validity, and its score was considered easy to interpret and appropriate for use. According to the reviewers, the IBS Severity Scoring System performed well with regard to psychometric capacities, but its practical utility was considered debatable. The properties of the other three symptom scales were suboptimal. The practical utility of the five IBS-specific HRQOL scales was considered poor. However, the reviewers agreed that, at present, the IBS Quality of Life measurement (Patrick et al.) is the best choice, because it has been the most extensively validated and shows appropriate psychometric quality. CONCLUSIONS: The Adequate Relief question is the measure of first choice when assessing global symptomatology as an outcome in IBS studies. For a more detailed IBS symptom assessment, the IBS Severity Scoring System is preferable. Finally, the IBS Quality of Life measurement scale can be used to establish changes in health-related quality of life.
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Doenças Funcionais do Colo/terapia , Indicadores Básicos de Saúde , Qualidade de Vida , Humanos , Psicometria , Resultado do TratamentoRESUMO
OBJECTIVE: To estimate the genetic influence on the occurrence of radiologic osteoarthritis (ROA) in the knees, hips, and hands and disc degeneration of the spine in the general population. METHODS: A random sample of 1,583 individuals was drawn to estimate the prevalence of ROA and disc degeneration in the general population. Of 118 probands with multiple affected joint sites who were derived from this sample, we were able to recruit 257 siblings. The variance of ROA and disc degeneration within sibling pairs was compared with the variance between sibling pairs. Heritability estimates for ROA in the knees, hips, and hands and for disc degeneration of the spine were calculated. OA was defined according to radiologic criteria, using the Kellgren/Lawrence grading system. RESULTS: We observed that hand ROA and disc degeneration of the spine were statistically significantly more frequent in siblings than in the random sample, whereas the prevalence of knee and of hip ROA was similar and lower, respectively. Heritability estimates for hand ROA and disc degeneration were statistically significant, P = 0.56 (95% confidence interval [95% CI] 0.34-0.76) and P = 0.75 (95% CI 0.30-1.00), respectively. For knee and hip ROA, no evidence of a genetic effect in the general population was found. Finally, the heritability estimate for a score that summed the number of joints affected in the knees, hips, hands, and spine was 0.78 (95% CI 0.52-0.98). All heritability estimates were adjusted for age, sex, body mass index, and bone mineral density. CONCLUSION: The present study shows that in the general population, there is a strong genetic effect for hand ROA and disc degeneration of the spine. The findings on the total number of joints affected at multiple sites suggest genetic susceptibility to generalized OA.
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Deslocamento do Disco Intervertebral/genética , Osteoartrite/genética , Idoso , Artrografia , Índice de Massa Corporal , Densidade Óssea , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Osteoartrite/diagnóstico por imagemRESUMO
It was investigated whether radiographic osteoarthritis (ROA) is associated with specific haplotypes of the COL2A1 gene. Radiographs of knees, hips, hands, and spine were scored for the presence of ROA in subjects of 55-70 years from a population-based cohort study, the Rotterdam study. Cases had ROA in 3 or more joint groups; controls, from the same population, had ROA in less than 3 joint groups. Allele frequencies of 3 dimorphisms (HaeIII, HindIII, MaeII) and a VNTR polymorphism of the COL2A1 gene were determined. The VNTR allele 14R2 and the HindIII polymorphism showed a significant association. Haplotype analysis of the HaeIII, HindIII and VNTR polymorphisms showed that a specific haplotype (1-2-14R2) is strongly associated with ROA in 3 or more joint groups (OR = 5.3, 95% CI 2.3-12.7). Our results suggest that a specific haplotype of the COL2A1 locus may predispose to generalised ROA.
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Colágeno/genética , Haplótipos , Osteoartrite/diagnóstico por imagem , Osteoartrite/genética , Polimorfismo de Fragmento de Restrição , Idoso , Alelos , Feminino , Genótipo , Humanos , Desequilíbrio de Ligação , Masculino , Pessoa de Meia-Idade , Fenótipo , RadiografiaRESUMO
OBJECTIVE: A genetic association study was performed to investigate whether radiographical osteoarthritis (ROA) was associated with specific genotypes of the insulin-like growth factor I (IGF-1) gene. METHODS: Subjects aged 55-65 years were selected from a population-based study of which ROA at the knee, hip, spine, and hand was assessed. Genotypes were determined of a polymorphism in the promoter region of the IGF-1 gene. RESULTS: The IGF-1 locus was significantly associated with the presence of ROA (over-all adjusted OR for heterozygous subjects = 1.9, 95% CI 1.2, 3.1 and for homozygous subjects 3.6, 95% CI 0.8, 16.2). CONCLUSION: These results suggest that variation at the IGF-1 locus is associated with ROA development and may play a part in ROA pathogenesis. To confirm these findings replication in another population-based sample is needed.
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Fator de Crescimento Insulin-Like I/genética , Osteoartrite/genética , Idoso , Alelos , Índice de Massa Corporal , Densidade Óssea , Feminino , Genótipo , Humanos , Masculino , Pessoa de Meia-Idade , Osteoartrite/diagnóstico por imagem , Osteoartrite/fisiopatologia , Estudos Prospectivos , RadiografiaRESUMO
OBJECTIVE: To investigate whether radiographically evident osteoarthritis (ROA) in 55-65-year-old men and women is associated with specific alleles or genotypes of the cartilage matrix protein (CRTM) and cartilage link protein (CRTL1) genes. METHODS: Cases were selected from a population-based study on the presence of ROA of the knee or hip. Further radiographic analysis included scoring for spine and hand ROA. Controls, selected from the same population, were free of ROA in all joints. RESULTS: The CRTM locus was significantly associated with hip ROA in men (odds ratio 0.50, 95% confidence interval 0.26-0.95). A significant association between ROA and the CRTL1 gene was not observed. CONCLUSION: These results suggest that the CRTM locus may play a role in the sex- and joint site-specific pattern of ROA development.
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Proteínas da Matriz Extracelular , Genes , Glicoproteínas/genética , Osteoartrite/diagnóstico por imagem , Osteoartrite/genética , Proteínas/genética , Proteoglicanas , Idoso , Proteína de Matriz Oligomérica de Cartilagem , Feminino , Articulação do Quadril , Humanos , Masculino , Proteínas Matrilinas , Pessoa de Meia-Idade , Radiografia , Caracteres SexuaisRESUMO
The role of various gene loci was investigated in a family in which familial osteoarthritis (FOA), with onset at an early age, is transmitted as an autosomal dominant mendelian trait. The absence of clinical and radiographic signs of dysplasia and calcium pyrophosphate deposition disease (CPDD) indicates that the basic disease process in this family is osteoarthritis (OA). Genetic linkage analysis of 14 candidate genes resulted in the exclusion of 10 important genes (COL2A1, COL9A1, COL9A2, COL11A1, COL11A2, COMP, the CPDD region, CRTL-1, CRTM, and MMP3). Other relevant genes were not informative in this family. The candidate loci previously identified in FOA and heritable skeletal disorders associated with OA are clearly not involved in the development of the primary FOA phenotype in the family investigated, indicating genetic heterogeneity.