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BACKGROUND: Dupilumab has been shown to be an effective treatment in moderate-to-severe atopic dermatitis (AD) and severe asthma (SA). However, comparative real-world analyses of adverse events (AE), particularly dupilumab-associated ocular surface disease (DAOSD), are lacking. OBJECTIVE: This is the first real-world study to provide insight into the prevalence of AEs associated with dupilumab in AD compared with SA. Secondary objectives were to assess the prevalence, onset and therapeutic strategies of DAOSD and evaluate dupilumab discontinuation rates. METHODS: Data from two daily practice registries including AD and SA patients receiving dupilumab treatment were analyzed. Adverse events, including DAOSD, were evaluated. RESULTS: In total, 322 AD and 148 SA patients were included. Headaches (23.6%), injection site reactions (10.1%), and influenza-like symptoms (13.5%) were more prevalent in SA patients. Interestingly, ocular AEs were significantly more prevalent in AD patients (62.1%, p < 0.001), including conjunctivitis (17.1%, p = 0.004). 88% AD and 47% SA patients with ocular AEs received one or more ophthalmic treatment(s). Additionally, 20% of AD and 17.6% of SA patients discontinued dupilumab treatment due to ocular AEs, while only 65% of these AD and none of these SA patients were referred to an ophthalmologist. CONCLUSION: The higher incidence of DAOSD in AD patients compared with SA patients in this real-world study highlights the importance of physician awareness, especially when prescribing dupilumab to AD patients. Conversely, the findings of this study help alleviate potential concerns about ocular AEs in patients with SA who do not have comorbid AD. Furthermore, the effective management of most ocular AEs with ophthalmic treatments suggests favorable tolerability of dupilumab in daily practice, and multidisciplinary collaboration is essential to proactively manage ocular AEs before discontinuing dupilumab.
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INTRODUCTION: Children with atopic dermatitis (AD) are more at risk for the neurodevelopmental disorders attention-deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) with parallel increases in global prevalences. Children afflicted with these conditions appear to share similar problems in sensory modulation but investigational studies on the underlying aetiology are scarce. This scoping review aims to find knowledge gaps, collate hypotheses and to summarise available evidence on the shared pathophysiology of AD, ADHD and ASD in children. METHODS AND ANALYSIS: Our study will follow the methodological manual published by the Joanna Briggs Methodology for Scoping Reviews and will be reported in accordance with the Preferred Reporting Items for Systematic reviews and Meta-Analyses Extension for Scoping Reviews. The following electronic databases will be searched for studies focused on children with AD and symptoms of ADHD and/or ASD: Medline ALL via Ovid, Embase, Web of Science Core Collection and the Cochrane Central Register of Controlled Trials via Wiley. ETHICS AND DISSEMINATION: This review does not require ethics approval as it will not be conducted with human participants. We will only use published data. Our dissemination strategy includes peer review publication and conference reports.
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Trastorno por Déficit de Atención con Hiperactividad , Trastorno del Espectro Autista , Dermatitis Atópica , Revisiones Sistemáticas como Asunto , Humanos , Dermatitis Atópica/complicaciones , Trastorno del Espectro Autista/complicaciones , Niño , Proyectos de InvestigaciónAsunto(s)
Prurigo , Prurito , Humanos , Proyectos Piloto , Prurigo/terapia , Femenino , Masculino , Prurito/psicología , Persona de Mediana Edad , Resultado del Tratamiento , Adulto , AncianoRESUMEN
OBJECTIVE: Isolated ambulatory phlebectomy is a potential treatment option for patients with an incompetent great saphenous vein (GSV) or anterior accessory saphenous vein and one or more incompetent tributaries. Being able to determine which patients will most likely benefit from isolated phlebectomy is important. This study aimed to identify predictors for avoidance of secondary axial ablation after isolated phlebectomy and to develop and externally validate a multivariable model for predicting this outcome. METHODS: For model development, data from patients included in the SAPTAP trial were used. The investigated outcome was avoidance of ablation of the saphenous trunk one year after isolated ambulatory phlebectomy. Pre-defined candidate predictors were analysed with multivariable logistic regression. Predictors were selected using Akaike information criterion backward selection. Discriminative ability was assessed by the concordance index. Bootstrapping was used to correct regression coefficients, and the C index for overfitting. The model was externally validated using a population of 94 patients with an incompetent GSV and one or more incompetent tributaries who underwent isolated phlebectomy. RESULTS: For model development, 225 patients were used, of whom 167 (74.2%) did not undergo additional ablation of the saphenous trunk one year after isolated phlebectomy. The final model consisted of three predictors for avoidance of axial ablation: tributary length (< 15 cm vs. > 30 cm: odds ratio [OR] 0.09, 95% confidence interval [CI] 0.02 - 0.40; 15 - 30 cm vs. > 30 cm: OR 0.18, 95% CI 0.09 - 0.38); saphenofemoral junction (SFJ) reflux (absent vs. present: OR 2.53, 95% CI 0.81 - 7.87); and diameter of the saphenous trunk (per millimetre change: OR 0.63, 95% CI 0.41 - 0.96). The discriminative ability of the model was moderate (0.72 at internal validation; 0.73 at external validation). CONCLUSION: A model was developed for predicting avoidance of secondary ablation of the saphenous trunk one year after isolated ambulatory phlebectomy, which can be helpful in daily practice to determine the suitable treatment strategy in patients with an incompetent saphenous trunk and one or more incompetent tributaries. Patients having a longer tributary, smaller diameter saphenous trunk, and absence of terminal valve reflux in the SFJ are more likely to benefit from isolated phlebectomy.
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BACKGROUND: Despite increased use of immune checkpoint inhibitors (ICIs) in patients with advanced melanoma, little is known about patient experiences during this treatment. This study aimed to gain an in-depth understanding of experiences and unmet care needs of patients treated in the adjuvant or metastatic setting for advanced melanoma regarding their ICI treatment trajectory. METHODS: Interviews and focus groups were conducted among 35 patients treated with ICIs in the adjuvant setting for completely resected stage III (n = 14), or in the metastatic setting for irresectable stage IV (n = 21) melanoma. A thorough thematic content analysis was conducted. RESULTS: Three main themes were identified. When (1) dealing with uncertainty in the decision-making process, adjuvant patients explored the pros and cons, whereas metastatic patients considered immunotherapy their only viable option. Both groups expressed the need for additional guidance. In (2) navigating the immunotherapy course, both perceived the trajectory as intense, experienced a major impact on their and their (close) relatives' lives, and felt the need to (re)gain control. When (3) looking back on the immunotherapy experience, metastatic patients generally felt relieved, while among adjuvant patients, feelings of doubt regarding their choice for ICIs were also reported. CONCLUSIONS: ICI treatment is perceived as intensive for both patient groups, facing both comparable and distinct challenges throughout the treatment trajectory, underscoring the need for stage-specific, individualised guidance. Options regarding flexible follow-ups, low-threshold contact and psychosocial support throughout the treatment trajectory should be explored.
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Inhibidores de Puntos de Control Inmunológico , Inmunoterapia , Melanoma , Humanos , Melanoma/terapia , Melanoma/tratamiento farmacológico , Melanoma/inmunología , Femenino , Masculino , Persona de Mediana Edad , Anciano , Inhibidores de Puntos de Control Inmunológico/uso terapéutico , Adulto , Inmunoterapia/métodos , Toma de Decisiones , Grupos Focales , Metástasis de la Neoplasia , Investigación Cualitativa , Anciano de 80 o más AñosRESUMEN
Background: Efficient identification of individuals at high risk of skin cancer is crucial for implementing personalized screening strategies and subsequent care. While Artificial Intelligence holds promising potential for predictive analysis using image data, its application for skin cancer risk prediction utilizing facial images remains unexplored. We present a neural network-based explainable artificial intelligence (XAI) approach for skin cancer risk prediction based on 2D facial images and compare its efficacy to 18 established skin cancer risk factors using data from the Rotterdam Study. Methods: The study employed data from the Rotterdam population-based study in which both skin cancer risk factors and 2D facial images and the occurrence of skin cancer were collected from 2010 to 2018. We conducted a deep-learning survival analysis based on 2D facial images using our developed XAI approach. We subsequently compared these results with survival analysis based on skin cancer risk factors using cox proportional hazard regression. Findings: Among the 2810 participants (mean Age = 68.5 ± 9.3 years, average Follow-up = 5.0 years), 228 participants were diagnosed with skin cancer after photo acquisition. Our XAI approach achieved superior predictive accuracy based on 2D facial images (c-index = 0.72, 95% CI: 0.70-0.74), outperforming that of the known risk factors (c-index = 0.59, 95% CI 0.57-0.61). Interpretation: This proof-of-concept study underscores the high potential of harnessing facial images and a tailored XAI approach as an easily accessible alternative over known risk factors for identifying individuals at high risk of skin cancer. Funding: The Rotterdam Study is funded through unrestricted research grants from Erasmus Medical Center and Erasmus University, Rotterdam, Netherlands Organization for the Health Research and Development (ZonMw), the Research Institute for Diseases in the Elderly (RIDE), the Ministry of Education, Culture and Science, the Ministry for Health, Welfare and Sports, the European Commission (DG XII), and the Municipality of Rotterdam. G.V. Roshchupkin is supported by the ZonMw Veni grant (Veni, 549 1936320).
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BACKGROUND: Itch, common in dermatological conditions, is often accompanied by psychological distress and reduced quality of life. However, research on the prevalence and associated factors of itch with skin conditions in general populations is limited. OBJECTIVES: This cross-sectional study aimed to determine the lifetime prevalence of itch with skin conditions and to identify its associated factors in individuals aged > 50â years. METHODS: Participants from the Rotterdam Study, a population-based cohort, were interviewed to assess whether they had ever had an itchy skin condition, defining lifetime itch with skin conditions. Over 20 demographic, lifestyle, dermatological and nondermatological factors were recorded. Multivariable logistic regression analysis explored associations between these factors and itch with skin conditions, reported as odds ratios (ORs) with 95% confidence intervals (CIs). RESULTS: In total, 5246 eligible participants were included (age range 51-100â years, median age 67; 56.0% women). The results revealed a -lifetime prevalence of 33.7% for itch with skin conditions. Factors significantly associated with itch were female sex (OR 1.26, 95% CI 1.11-1.43), body mass index (1.02, 1.01-1.03), self-reported atopic dermatitis (4.29, 3.74-4.92), presence of atopic dermatitis (1.97, 1.60-2.43), self--reported psoriasis (2.31, 1.77-3.01), presence of psoriasis (2.11, 1.55-2.87), self-reported dry skin (1.95, 1.73-2.20), self-reported asthma (1.40, 1.08-1.83), renal impairment (1.45, 1.17-1.79), and clinically relevant depressive (1.85, 1.52-2.25) and anxiety symptoms (1.36, 1.11-1.66). CONCLUSIONS: This study reveals a substantial one-third lifetime prevalence of itch with skin conditions in individuals aged > 50â years. Significant associations with diverse lifestyle, demographic, dermatological and, intriguingly, nondermatological factors, including renal impairment, imply additional contributors to induction or persistence of itch in individuals with skin conditions.
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Dermatitis Atópica , Prurito , Psoriasis , Humanos , Femenino , Masculino , Anciano , Prurito/epidemiología , Prurito/etiología , Persona de Mediana Edad , Prevalencia , Estudios Transversales , Psoriasis/epidemiología , Psoriasis/complicaciones , Psoriasis/psicología , Dermatitis Atópica/epidemiología , Dermatitis Atópica/psicología , Dermatitis Atópica/complicaciones , Anciano de 80 o más Años , Países Bajos/epidemiología , Factores de Riesgo , Calidad de Vida , Enfermedades de la Piel/epidemiología , Factores SexualesRESUMEN
Background/Purpose: Cutaneous squamous cell carcinoma (cSCC) is one of the most common malignancies worldwide. While several environmental risk factors for cSCC are well established, there is conflicting evidence on cigarette smoking (and its potential causal effect) and cSCC risk. Furthermore, it is unclear if these potential associations represent causal, modifiable risk factors for cSCC development. This study aims to assess the nature of the associations between cigarette smoking traits (smoking initiation, amount smoked, and lifetime smoking exposure) and cSCC risk using two-sample Mendelian randomization analyses. Methods: Genetic instruments, based on common genetic variants associated with cigarette smoking traits (P < 5 × 10-8), were derived from published genome-wide association studies (GWASs). For cSCC, we used GWAS summary statistics from the Kaiser Permanente GERA cohort (7701 cSCC cases and 60,167 controls; all non-Hispanic Whites). Results: We found modest evidence that genetically determined lifetime smoking was associated with cSCC (inverse-variance weighted method: OR[95% CI] = 1.47[1.09-1.98]; P = .012), suggesting it may be a causal risk factor for cSCC. We did not detect any evidence of association between genetically determined smoking initiation or amount smoked and cSCC risk. Conclusion: Study findings highlight the importance of smoking prevention and may support risk-stratified cSCC screening strategies based on carcinogen exposure and other genetic and clinical information.
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BACKGROUND: Actinic keratosis (AK) is a common dermatological condition, and among the most common dermatological diagnoses in older populations. Although the prevalence of AK depends on demographic and environmental factors, little is known about the global context of AK. OBJECTIVES: To provide a comprehensive and updated analysis of the global prevalence rate and incidence of AK in the general population through a systematic review and meta-analysis, and - through subgroup analyses - to identify high-risk phenotypes, demographic and lifestyle risk factors and regional variations in disease prevalence. METHODS: A systematic search of Embase, MEDLINE, Web of Science and Google Scholar was performed on 20 May 2022. Two reviewers independently screened and assessed the quality of each study using a validated critical appraisal checklist. Epidemiological measurements (e.g. prevalence) from individual studies performed in the general population were then pooled in a random-effects meta-analysis. Subgroup analyses (i.e. population age, geographical region, occupation, sex and study quality) were conducted. RESULTS: Of the 65 articles that made it through the full-text screening, 60 reported a point prevalence. A meta-analysis of these articles yielded an overall point prevalence of 14% [95% confidence interval (CI) 14-15]. In further analyses, the calculated prevalence rate varied depending on subgroup. The pooled incidence rate from the seven eligible studies analysed was 1928 per 100 000 person-years (PY; 95% CI -439 to 4294). CONCLUSIONS: This comprehensive meta-analysis provides an updated global prevalence rate of AK of 14%, indicating a significant worldwide disease burden. The incidence rate of AK was found to be 1928 per 100 000 PY, emphasizing a growing public health concern. However, high heterogeneity among studies suggests that various factors influence the AK prevalence rate, necessitating further research to understand the observed differences.
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Queratosis Actínica , Humanos , Anciano , Queratosis Actínica/epidemiología , Factores de Riesgo , Prevalencia , Costo de Enfermedad , IncidenciaRESUMEN
BACKGROUND: Upadacitinib was the first JAK-1 selective inhibitor registered for the treatment of moderate-to-severe atopic dermatitis (AD). Although efficacy and safety have been shown in clinical trials, real-world data on the use of upadacitinib in patients that have been treated with other immunosuppressants and targeted therapies is limited. OBJECTIVES: To provide real-world evidence on the use of upadacitinib treatment in moderate-to-severe atopic dermatitis. METHODS: In this prospective observational single-centre study, all AD patients treated with upadacitinib treatment in the context of standard care were included between August 2021 and September 2022. Clinical outcome measures and adverse events (AEs) were analysed. RESULTS: Forty-eight patients were included. The majority (n = 39; 81%) had failed (ineffectiveness) on other targeted therapies, including other JAK inhibitors and biologics. Thirty-four (71%) patients were still using upadacitinib treatment at last follow up (median duration 46.5 weeks). Fourteen (29%) patients discontinued treatment due to ineffectiveness or AE. Upadacitinib treatment led to a significant decrease of disease severity during a median follow up of 37.5 weeks. Median IGA at baseline decreased from 3 (IQR 2-3) to 1.5 (IQR 1-2) at last review (p < 0.001). Median NRS itch decreased from 7 (IQR 5-8) at baseline to 2.25 (IQR 0.25-6.5) at last review (p < 0.001). Three patients discontinued treatment due to AE. Forty-eight AEs were reported, including acne-like eruptions (25%), nausea (13%) and respiratory tract infections (10%). CONCLUSIONS: In this real-world cohort, we confirmed that upadacitinib is an effective treatment in a subset of AD patients that have failed several previous systemic immunosuppressive and biologic treatments. Overall, AE were mostly well tolerated and not a reason to discontinue treatment for most patients.
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Acné Vulgar , Dermatitis Atópica , Inhibidores de las Cinasas Janus , Humanos , Dermatitis Atópica/tratamiento farmacológico , Compuestos Heterocíclicos con 3 Anillos/efectos adversos , Inmunosupresores/efectos adversos , Inhibidores de las Cinasas Janus/efectos adversos , Prurito , Índice de Severidad de la Enfermedad , Resultado del Tratamiento , Estudios ProspectivosRESUMEN
BACKGROUND: There is lack of nationwide data on the cumulative incidence and timing of subsequent cutaneous squamous cell carcinomas (cSCCs) among patients with a first cSCC. OBJECTIVE: To investigate the cumulative incidence and timing of subsequent cSCCs. METHODS: Patients with a first cSCC in 2007/2008 from the Netherlands Cancer Registry were linked to the Netherlands Pathology Registry for subsequent cSCCs and the Netherlands Organ Transplant Registry. Cumulative incidence function curves were calculated for subsequent cSCCs and stratified for immune status. RESULTS: Among the 12,345 patients, second to sixth cSCC occurred in 4325, 2010, 1138, 739, and 501 patients, with median time intervals of 1.4, 1.2, 0.9, 0.6, and 0.5 years after the previous cSCC, respectively. The cumulative incidence of a subsequent cSCC at 5 years increased from 28% to 67% for the second to sixth cSCC. For solid organ transplant recipients, the cumulative incidences increased from 74% to 92% and from 41% to 64% for patients with hematologic malignancy. LIMITATIONS: Only histopathologically confirmed cSCCs were included. CONCLUSION: The risk of a subsequent cSCC steeply rises with the number of prior cSCCs and immune status, while the time interval decreases. This can support more informed decisions about follow-up management.
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Carcinoma de Células Escamosas , Trasplante de Órganos , Neoplasias Cutáneas , Humanos , Carcinoma de Células Escamosas/epidemiología , Carcinoma de Células Escamosas/patología , Estudios de Cohortes , Incidencia , Neoplasias Cutáneas/epidemiología , Neoplasias Cutáneas/patología , Trasplante de Órganos/efectos adversosAsunto(s)
Supervivientes de Cáncer , Melanoma , Neoplasias , Humanos , Supervivencia , Técnica Delphi , Sobrevivientes , Melanoma/terapiaRESUMEN
BACKGROUND: Although acne is a prevalent multifactorial inflammatory skin condition, few studies were performed in multiethnic populations. OBJECTIVES: To study the prevalence and determinants of acne in a multiethnic study at the start of puberty. METHODS: This cross-sectional study is embedded in Generation R, a population-based prospective study from Rotterdam, the Netherlands. Three-dimensional facial photos at the center visit in 2016-2019 (of â¼13-year-olds) were used to grade acne severity using the Global Evaluation of the Acne Severity (GEA). Analyses were stratified by biological sex and explored through chi-square tests and multivariable ordinal logistic regression. RESULTS: A total of 4561 children (51% girls) with a median age of 13.5 (IQR 13.3-13.6) were included. The visible acne prevalence (GEA 2-5) for girls vs boys was 62% vs 45% and moderate-to-severe acne (GEA 3-5) 14% vs 9%. Higher puberty stages (adjusted odds ratios: 1.38 [1.20-1.59] and 2.16 [1.86-2.51] for girls and boys, respectively) and darker skin colors V and VI (adjusted odds ratios: 1.90 [1.17-3.08] and 2.43 [1.67-3.56]) were associated with more severe acne in both sexes, and being overweight in boys (adjusted odds ratio: 1.58 [1.15-2.17]). LIMITATIONS: Cross-sectional design. CONCLUSIONS: Acne prevalence was high at the age of 13 years and was associated with advanced puberty, darker skin color, and weight status.
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Acné Vulgar , Masculino , Niño , Femenino , Humanos , Adolescente , Estudios Transversales , Países Bajos/epidemiología , Estudios Prospectivos , Acné Vulgar/epidemiología , Acné Vulgar/complicaciones , PrevalenciaRESUMEN
BACKGROUND: Several large studies on the burden of skin diseases have been performed in patients recruited in hospitals or clinical centres, thus missing people with skin diseases who do not undergo a clinical consultation. OBJECTIVES: To evaluate the burden of the most common dermatological diseases in adult patients across Europe, in terms of quality of life, work life, and stigmatization. METHODS: Population-based survey on a representative sample of the European general population aged 18 years or older. Participants who declared to have had one or more skin problem or disease during the previous 12 months completed the Dermatology Life Quality Index questionnaire, and answered questions regarding the impact of their skin disease on daily and work life, anxiety/depression, and stigmatization. RESULTS: The study population included 19,915 individuals, 44.7% of whom were men. Quality of life was particularly impaired in people with hidradenitis suppurativa (HS), and sexually transmitted diseases. About a half of participants with acne, alopecia, or chronic urticaria, and about 40% of those with atopic dermatitis (AD), skin cancers, or psoriasis reported a modest to extremely large effect of the disease on their quality of life. Overall, 88.1% of participants considered their skin disease as embarrassing in personal life and 83% in work life. About half of the respondents reported sleeping difficulty, feeling tired, and impact of the disease on taking care of themselves. Concerning stigmatization, 14.5% felt to have been rejected by others because of the skin disease, and 19.2% to have been looked at with disgust. Anxiety and depression were frequently reported by patients with all the diseases. CONCLUSIONS: Skin diseases may heavily affect patients' daily and work life, and cause feelings of stigmatization. An early intervention is needed to avoid consequences on the patients' life course.
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Psoriasis , Enfermedades de la Piel , Adulto , Masculino , Humanos , Femenino , Calidad de Vida , Estereotipo , Europa (Continente) , Encuestas y Cuestionarios , Enfermedades de la Piel/epidemiologíaRESUMEN
BACKGROUND: The public perception of dermatology has been poorly investigated in Europe. OBJECTIVE: To determine the general public's perception of dermatologists in Europe. METHODS: This multinational, cross-sectional study was conducted within the framework of the EADV population-based survey on the 'Burden of skin diseases in Europe'. Data were collected using a web-based online survey on a representative sample of the general populations aged 18 years or more of 27 European countries. Proportional quota sampling with replacement design was used for each country. RESULTS: A total of 44,689 adult participants responded to the questionnaire, of whom 18,004 visited a dermatologist in the preceding 3 years. The dermatologist was the second most often visited specialist among all medical specialties, with 69.7%, 72.1%, 42.1% and 78.1% of participants in Western Europe (WE), Eastern Europe (EE), Northern Europe (NE) and Southern Europe (SE), respectively, having consulted a dermatologist over the past 24 months. Most participants across all regions agreed that the dermatologist was the first healthcare provider for chronic skin diseases (61.9% in WE, 69.8% in EE, 45.7% in NE and 60.4% in SE) and for skin cancers (65.5% in WE, 67.6% in EE, 42.4% in NE and 63.0% in SE). The five most common reasons for visiting a dermatologist among all participants were: naevi check-up or skin cancer screening (20.2%), chronic skin diseases (16.5%), acute skin diseases (12.4%), cosmetic advice or procedure (10.2%), hyperpigmentation or congenital lesions (9.1%) and hair or nail disorder (7.7%). Most participants (84.6% in WE, 82.5% in EE, 78.3% in NE and 82.8% in SE) were very swatisfied/somewhat satisfied with the service provided. CONCLUSION: Our study findings underscore the central role of dermatologists in skin health and highlights them as valued and trusted care providers across Europe. Understanding the perceived position of the dermatologist is the first step in improving health policy development and implementation. Notably, access to a dermatologist was lowest in NE, probably reflecting differences in healthcare organizational structures or possibly cultural differences in healthcare seeking behaviour.
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Enfermedades de la Piel , Neoplasias Cutáneas , Adulto , Humanos , Dermatólogos , Estudios Transversales , Opinión Pública , Europa (Continente) , Enfermedades de la Piel/epidemiologíaRESUMEN
BACKGROUND: The journey of patients with skin diseases through healthcare has been scarcely investigated. OBJECTIVE: To analyse the journey of people with skin diseases in the different healthcare environment in Europe. METHODS: This multinational, cross-sectional, European study was conducted on a representative sample of the adult general population of 27 European countries. The prevalence of the most frequent skin diseases was determined. Information was collected on the patient journey from the first medical consultation to the diagnosis, and the reasons for not consulting a healthcare professional. RESULTS: On a total of 44,689 individuals, 30.3% reported to have consulted a dermatologist during the previous 2 years. Participants consulted mainly for mole control or skin cancer screening (22.3%), followed by chronic skin diseases (16.2%). The diagnoses of acne, atopic dermatitis, psoriasis and rosacea were made most frequently by a dermatologist, while fungal skin infections were diagnosed more often by a general practitioner (GP), and sexually transmitted diseases (STD) by other specialists. The diagnosis was not always definitive at the first consultation, in particular for STD. The percentage of people who did not consult a healthcare professional for their skin disease was particularly high for acne (36.4%), alopecia (44.7%) and fungal infection (30.0%). Moreover, 17.7% of respondents with psoriasis did not consult. A high percentage of participants with alopecia thought that the disease was not worrying, while patients with psoriasis often answered that they were able to manage the disease since they had already consulted a doctor. Many patients with acne (41.1%) and fungal infection (48.2%) thought that they were able to handle the disease by themselves. CONCLUSION: The analysis of the self-reported medical journey of patients with common skin diseases may allow to understand the unmet needs of patients, thus improving outcomes and reducing expenses.
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Acné Vulgar , Micosis , Psoriasis , Enfermedades de Transmisión Sexual , Enfermedades de la Piel , Adulto , Humanos , Estudios Transversales , Enfermedades de la Piel/diagnóstico , Enfermedades de la Piel/epidemiología , Psoriasis/diagnóstico , Psoriasis/epidemiología , Derivación y Consulta , Alopecia , Acné Vulgar/diagnóstico , Acné Vulgar/epidemiologíaRESUMEN
Human ear morphology, a complex anatomical structure represented by a multidimensional set of correlated and heritable phenotypes, has a poorly understood genetic architecture. In this study, we quantitatively assessed 136 ear morphology traits using deep learning analysis of digital face images in 14,921 individuals from five different cohorts in Europe, Asia, and Latin America. Through GWAS meta-analysis and C-GWASs, a recently introduced method to effectively combine GWASs of many traits, we identified 16 genetic loci involved in various ear phenotypes, eight of which have not been previously associated with human ear features. Our findings suggest that ear morphology shares genetic determinants with other surface ectoderm-derived traits such as facial variation, mono eyebrow, and male pattern baldness. Our results enhance the genetic understanding of human ear morphology and shed light on the shared genetic contributors of different surface ectoderm-derived phenotypes. Additionally, gene editing experiments in mice have demonstrated that knocking out the newly ear-associated gene (Intu) and a previously ear-associated gene (Tbx15) causes deviating mouse ear morphology.
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Sitios Genéticos , Estudio de Asociación del Genoma Completo , Humanos , Masculino , Animales , Ratones , Estudio de Asociación del Genoma Completo/métodos , Fenotipo , Asia , Polimorfismo de Nucleótido Simple/genéticaRESUMEN
Population-based studies available to analyze the prevalence, risk factors, and longitudinal outlook of actinic keratoses (AKs) are limited. These features mentioned earlier were assessed using Rotterdam study participants aged ≥40 years who underwent a full-body skin examination by a dermatology-trained physician. ORs with 95% confidence intervals were calculated for the associations between risk factors and the presence of AK. Among 8,239 eligible participants, the prevalence of one or more AKs was 21.1% (95% confidence interval = 20.2-22.0) and was higher in men. Male sex, age, lighter hair and eye color, baldness, genetic risk score, and digital photoaging measures (digitally assessed pigmented spots, telangiectasias, and global facial wrinkling) had a positive association with AK. Cigarette smokers had reduced odds of having AK, with current smokers having the lowest risk. Among patients with two AK assessments, there was no difference in the presence of AK during follow-up between treated and untreated participants. In conclusion, genetic risk score and digital photoaging measures showed associations with increased lesion count. At the individual level, patients were most likely to decrease in AK severity group over time, possibly regardless of whether or not participants were treated.