Epidemiological evaluation of Dupuytren's disease incidence and prevalence rates in relation to etiology.
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ABSTRACT:
SUBMITTER: Hindocha S
PROVIDER: S-EPMC2724613 | biostudies-other | 2009 Sep
REPOSITORIES: biostudies-other
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Project description:ObjectiveTo evaluate the risk factors and analyze the characteristics of patients and lesions in Dupuytren's disease.MethodsRetrospective analysis of patients diagnosed with Dupuytren's disease in a hand surgery clinic in 2013. The authors evaluated parameters associated with the patient profiles and risk factors, the form and severity of involvement, and characteristics of the lesions.Results58 patients were evaluated, totaling 79 hands, with bilateral involvement in 46% of cases. The involvement of the ulnar fingers of the hand represented 78%, 44% being the ring finger. In 55% of cases, the patients had cords, while 45% showed only nodules. As for related factors, they were found most commonly in men (55%), whites (93%), and the elderly. Of coexisting diseases, the following were present: diabetes mellitus (49%), especially in the insulin-dependent (62%), hypertension (55.2%), and dyslipidemia (19%). With regard to lifestyle, 22% were smokers and 9% were alcohol consumers.ConclusionIt was observed a higher incidence of Dupuytren's disease was observed among men, whites, and the ulnar fingers of the hand, especially the ring finger. The most common associated diseases were diabetes mellitus and hypertension.
| S-EPMC5771785 | biostudies-literature
Project description:BackgroundDupuytren's disease (DD) is a fibroproliferative hand disorder associated with various medical conditions, including diabetes mellitus (DM). The reported prevalence of DM among DD patients varies widely, primarily due to small sample sizes in previous studies.MethodsThis was a retrospective cohort study using data from the TriNetX Research Database. We analyzed the overall prevalence of DD between 2010 and 2020, comparing the DM, type 1 diabetes mellitus (T1DM), and type 2 diabetes mellitus (T2DM) cohorts. Within the DM group, patients were further categorized based on hemoglobin A1c (HbA1c) values and prescribed anti-diabetic agents (insulin or metformin). We compared the prevalence of DD diagnosis in each group using prevalence ratios and differences.ResultsThere is a higher prevalence of DD in patients with T2DM than in patients with T1DM (relative risk [RR]: 1.641; 95% confidence interval [CI]: [1.356, 1.986]). Among patients with diabetes, there is a higher prevalence of DD in those taking insulin compared to those taking metformin (RR: 0.801, 95% CI: [0.774, 0.83]). The prevalence of DD varies depending on HbA1c levels, with a prevalence of 0.463% in patients having levels within the diabetic range, while lower prevalences of 0.392% and 0.416% are found in patients with prediabetes or uncontrolled diabetes, respectively.ConclusionsThis study provides further insight into the relationship between DM and DD. These findings may be attributed to the increased accumulation of advanced glycosylated end products (AGEs) in patients with diabetes. Future research exploring the connection between AGE accumulation and DD development may enhance our understanding of the relationship between DD and DM.
| S-EPMC10345101 | biostudies-literature
Project description:Dupuytren's disease is a common inherited tissue-specific fibrotic disorder, characterized by progressive and irreversible fibroblastic proliferation affecting the palmar fascia of the hand. Although genome-wide association study (GWAS) have identified 24 genomic regions associated with Dupuytrens risk, the biological mechanisms driving signal at these regions remain elusive. We identify potential biological mechanisms for Dupuytren's disease by integrating the most recent, largest GWAS (3,871 cases and 4,686 controls) with eQTLs (47 tissue panels from five consortia, total n = 3,975) to perform a transcriptome-wide association study. We identify 43 tissue-specific gene associations with Dupuytren's risk, including one in a novel risk region. We also estimate the genome-wide genetic correlation between Dupuytren's disease and 45 complex traits and find significant genetic correlations between Dupuytren's disease and body mass index (BMI), type II diabetes, triglycerides, and high-density lipoprotein (HDL), suggesting a shared genetic etiology between these traits. We further examine local genetic correlation to identify 8 and 3 novel regions significantly correlated with BMI and HDL respectively. Our results are consistent with previous epidemiological findings showing that lower BMI increases risk for Dupuytren's disease. These 12 novel risk regions provide new insight into the biological mechanisms of Dupuytren's disease and serve as a starting point for functional validation.
| S-EPMC6699495 | biostudies-literature
Project description:Nasopharyngeal swabbing substantially underestimates carriage of Neisseria meningitidis. Real-time PCR assays were employed to examine the presence of a broad range of bacteria and of N. meningitidis groups B and C, respectively, in tonsils from 26 individuals from Oxford, England, and 72 individuals from Zurich, Switzerland. The detection limit of each PCR system was DNA from one bacterial cell per reaction mixture. Tonsillar DNA did not inhibit amplification of meningococcal gene sequences, and N. meningitidis was detected in tonsils exposed to the bacterium. Whereas in both sets of patients other bacteria were detected, N. meningitidis group B and group C were only found in tonsils from Oxford where the incidence of invasive meningococcal disease is much higher than in Zurich. These observations suggest that PCR-based methods could be used for the detection of meningococcal carriage and that difference in disease incidence could be explained by different transmission rates in the community rather than host genetics or coexisting infections.
| S-EPMC139716 | biostudies-literature
Project description:Dupuytren's disease (DD) is a classic example of pathological fibrosis which results in a debilitating disorder affecting a large sector of the human population. It is characterized by excessive local proliferation of fibroblasts and over-production of collagen and other components of the extracellular matrix (ECM) in the palmar fascia. The fibrosis progressively results in contracture of elements between the palmar fascia and skin causing flexion deformity or clawing of the fingers and a severe reduction in hand function. While much is known about the pathogenesis and surgical treatment of DD, little is known about the factors that cause its onset and progression, despite many years of research. Gene expression patterns in DD patients now offers the potential to identify genes that direct the pathogenesis of DD. In this study, we used primary cultures of fibroblasts derived from excisional biopsies of fibrotic tissue from DD patients to compare the gene expression profiles on a genome-wide basis with normal control fibroblasts. Our investigations have identified genes that may be involved with DD pathogenesis including some which are directly relevant to fibrosis. In particular, these include significantly reduced expression levels of three matrix metallopeptidases (MMP1, MMP3, MMP16), follistatin, and STAT1, and significantly increased expression levels of fibroblast growth factors (FGF9, FGF11), a number of collagen genes and other ECM genes in DD patient samples. Many of these gene products are known to be involved in fibrosis, tumour formation and in the normal processes of tissue remodelling. In addition, alternative splicing was identified in some DD-associated genes. These highly sensitive genomic investigations provide new insight into the molecular mechanisms that may underpin the development and progression of DD.
2013-10-01 | GSE41524 | GEO
Project description:The magnitude and consistency of the sex differences in meningococcal disease incidence rates (IR) have not been systematically examined in different age groups, countries and time periods. We obtained national data on meningococcal disease IR by sex, age group and time period, from 10 countries. We used meta-analytic methods to combine the male to female incidence rate ratios (IRRs) by country and year for each age group. Meta-regression analysis was used to assess the contribution of age, country and time period to the variation in the IRRs. The pooled male to female IRRs (with 95% CI) for ages 0-1, 1-4, 5-9, 10-14 and 15-44, were 1.25 (1.19-1.32), 1.24 (1.20-1.29), 1.13 (1.07-1.20), 1.21 (1.13-1.29) and 1.15 (1.10-1.21), respectively. In the age groups 45-64 and over 65, the IR were lower in males with IRRs of 0.83 (0.78-0.88) and 0.64 (0.60-0.69), respectively. Sensitivity analysis and meta-regression confirmed that the results were robust. The excess meningococcal IR in young males and the higher rates in females at older ages were consistent in all countries, except the Czech Republic. While behavioural factors could explain some of the sex differences in the older age groups, the excess rates in very young males suggest that genetic and hormonal differences could be important.
| S-EPMC7592104 | biostudies-literature
Project description:Epidemiology is the study of the distribution and determinants of disease in human populations. Over the past decade there has been considerable progress in our understanding of the fundamental descriptive epidemiology (levels of disease frequency: incidence and prevalence, comorbidity, mortality, trends over time, geographic distributions, and clinical characteristics) of the rheumatic diseases. This progress is reviewed for the following major rheumatic diseases: rheumatoid arthritis (RA), juvenile rheumatoid arthritis, psoriatic arthritis, osteoarthritis, systemic lupus erythematosus, giant cell arteritis, polymyalgia rheumatica, gout, Sjögren's syndrome, and ankylosing spondylitis. These findings demonstrate the dynamic nature of the incidence and prevalence of these conditions--a reflection of the impact of genetic and environmental factors. The past decade has also brought new insights regarding the comorbidity associated with rheumatic diseases. Strong evidence now shows that persons with RA are at a high risk for developing several comorbid disorders, that these conditions may have atypical features and thus may be difficult to diagnose, and that persons with RA experience poorer outcomes after comorbidity compared with the general population. Taken together, these findings underscore the complexity of the rheumatic diseases and highlight the key role of epidemiological research in understanding these intriguing conditions.
| S-EPMC2714099 | biostudies-literature
Project description:PURPOSE: Dupuytren's disease (DD) is characterized by fibroblastic proliferation of the palmar fascia, often leading to flexion contracture in the hand. Although there is a strong genetic component the genome-wide expression of novel genes is not known. The purpose of this study was to use DNA microarray technology to identify upregulated genes in DD. METHODS: Human tissue samples were harvested from 3 patient sources: DD cord tissue (n = 20), normal-appearing adjacent control fascia (n = 15), and palmar fascia from patients having carpal tunnel release (n = 15). DNA microarray analysis was performed on amplified sample RNA. Novel genes were compared with known gene functions. A candidate gene of interest was studied further by using immunohistochemistry on DD tissue samples and controls. : Several novel genes not described previously in the study of DD were upregulated significantly, including MafB, collagen type V, alpha-2 (COL5A2), collagen type VIII, alpha-1 (COL8A1), contactin I (CNTN1), and leucine-rich repeat containing 17 (LRRC17). These upregulated genes were compared with their known gene-expression profiles in other tissues and their purported functions. MafB was found to be of particular interest because of its prominent role in tissue development and cellular differentiation. MafB immunohistochemistry showed positive staining in 50% of the DD specimens but complete absence of MafB in all control tissues (adjacent control fascia, carpal tunnel fascia). Co-localization experiments with MafB and alpha-smooth muscle actin showed staining properties in similar regions but these 2 proteins were not confined solely to the same cells. CONCLUSIONS: Microarray analysis of DD tissue has identified significant upregulated gene expression of MafB. MafB protein also is found in Dupuytren's cords but not in control fascia. Co-localization data suggest that the association of MafB with DD is not related exclusively to myofibroblast proliferation. Because of its role in fibroblastic transformation in other models MafB and its relationship to the pathogenesis of DD deserves further study. Set of arrays organized by shared biological context, such as organism, tumors types, processes, etc. Keywords: Logical Set
2006-03-15 | GSE4457 | GEO
Project description:Dupuytren's disease (DD) is characterized by nodular fibroblastic proliferation of the palmar fascia leading to contracture of the hand. We performed a cDNA microarray analysis of DD palmar cord tissue. Normal-appearing palmar fascia adjacent to the diseased cord from the same patient and palmar fascia from patients undergoing carpal tunnel release were used as controls. A type II microarray experiment was used on amplified sample RNA. Samples were hybridized to arrays containing 42,000 gene elements. Array data was analyzed with the on-line software from the Stanford Microarray Database. A disease state experiment design type is where the state of some disease such as infection, pathology, syndrome, etc is studied. Type: disease_state_design Series_overall_design: Computed Keywords: other
2006-05-19 | GSE2688 | GEO
Project description:Dupuytren's disease (DD) is a classic example of pathological fibrosis which results in a debilitating disorder affecting a large sector of the human population. It is characterized by excessive local proliferation of fibroblasts and over-production of collagen and other components of the extracellular matrix (ECM) in the palmar fascia. The fibrosis progressively results in contracture of elements between the palmar fascia and skin causing flexion deformity or clawing of the fingers and a severe reduction in hand function. While much is known about the pathogenesis and surgical treatment of DD, little is known about the factors that cause its onset and progression, despite many years of research. Gene expression patterns in DD patients now offers the potential to identify genes that direct the pathogenesis of DD. In this study, we used primary cultures of fibroblasts derived from excisional biopsies of fibrotic tissue from DD patients to compare the gene expression profiles on a genome-wide basis with normal control fibroblasts. Our investigations have identified genes that may be involved with DD pathogenesis including some which are directly relevant to fibrosis. In particular, these include significantly reduced expression levels of three matrix metallopeptidases (MMP1, MMP3, MMP16), follistatin, and STAT1, and significantly increased expression levels of fibroblast growth factors (FGF9, FGF11), a number of collagen genes and other ECM genes in DD patient samples. Many of these gene products are known to be involved in fibrosis, tumour formation and in the normal processes of tissue remodelling. In addition, alternative splicing was identified in some DD-associated genes. These highly sensitive genomic investigations provide new insight into the molecular mechanisms that may underpin the development and progression of DD. Four exon arrays of DD primary fibroblasts derived from fibrotic tissue were compared to fibroblasts derived from skin punch biopsies from individuals who did not show DD symptoms.
2013-10-01 | E-GEOD-41524 | biostudies-arrayexpress