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1.
Clin Exp Rheumatol ; 39 Suppl 129(2): 69-75, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33253103

RESUMO

OBJECTIVES: Clinical improvement following tocilizumab (TCZ) therapy in patients with large-vessel (LVV) giant cell arteritis (GCA) is well established. However, information on TCZ effect on imaging vascular activity is limited. We aimed to determine if clinical improvement correlated with reduction of vascular 18F-fluorodeoxyglucose (18F-FDG) uptake in positron emission tomography (PET/CT) scans. METHODS: Observational study of patients with refractory LVV-GCA treated with TCZ who had a baseline and a follow-up 18F-FDG-PET/CT scan. For the visual analysis of 18F-FDG vascular uptake, a total vascular score (TVS) was defined, ranging from 0 to 15. Besides, a semiquantitative analysis was performed as a target to background ratio (TBR)= SUVmax thoracic aorta wall/SUVmax aortic vascular pool. The baseline and follow-up TVS and TBR were compared. Clinical and lab¬oratory outcomes were also assessed. RESULTS: We included 30 patients (24 women/6 men); mean age± standard deviation 65.7± 9.8 years. Baseline PET/CT scans were performed due to active disease at a median [interquartile range-IQR] of 1.5 [0.0-4.0] months before TCZ onset. Following TCZ therapy, 25 (83.33%) patients achieved clinical remission and reduction of 18F-FDG vascular uptake was also observed after a mean ± standard deviation of 10.8±3.7 months. TBR decreased from 1.70 ± 0.52 to 1.48 ± 0.25 (p=0.005) and TVS from 4.97±2.62 to 3.13±1.89 (p< 0.001). However, only 9 (30.0%) patients showed complete normalisation of TBR and only 3 (10%) normalisation of TVS. TBR and TVS showed a good correlation (r=0.576). CONCLUSIONS: Although most of LVV-GCA patients achieve clinical remission after TCZ therapy, less than one-third show normalisation of 18F-FDG vascular uptake.


Assuntos
Fluordesoxiglucose F18 , Arterite de Células Gigantes , Anticorpos Monoclonais Humanizados/uso terapêutico , Feminino , Arterite de Células Gigantes/diagnóstico por imagem , Arterite de Células Gigantes/tratamento farmacológico , Humanos , Masculino , Tomografia por Emissão de Pósitrons combinada à Tomografia Computadorizada , Tomografia por Emissão de Pósitrons , Compostos Radiofarmacêuticos
2.
Postepy Dermatol Alergol ; 38(3): 450-454, 2021 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-34377127

RESUMO

INTRODUCTION: Recent studies suggest a role of adipokines in the pathogenesis of hidradenitis suppurativa (HS). Omentin-1 and apelin are two recently identified adipokines that have been involved in the regulation of metabolic and inflammatory responses. AIM: To investigate serum omentin-1 and apelin levels in patients with HS and to assess their associations with metabolic parameters, disease severity and HS risk. MATERIAL AND METHODS: This case-control study included 139 non-diabetic individuals (78 HS patients and 61 ageand sex-matched controls). Serum concentrations of omentin-1 and apelin and the homeostasis model assessment of insulin resistance (HOMA-IR) were measured in all participants. RESULTS: Serum omentin-1 concentrations were significantly higher in HS patients compared to controls, whereas apelin serum levels did not significantly differ between both groups. These differences in omentin-1 concentrations remained significant even after adjusting for age, sex, and body mass index (BMI). The results of logistic regression analysis showed that increased omentin-1 plasma levels were an independent risk factor for HS. However, we found no association between serum levels of both omentin-1 and apelin with HS severity. CONCLUSIONS: Our results show that patients with HS have raised omentin-1 serum levels, which are associated with HS risk.

3.
J Am Acad Dermatol ; 75(2): 329-35, 2016 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-27287248

RESUMO

BACKGROUND: Chronic inflammatory diseases have been associated with increased prevalence of subclinical atherosclerosis. Hidradenitis suppurativa (HS) is a chronic inflammatory disease involving intertriginous skin. OBJECTIVE: We sought to investigate the potential association between HS and subclinical atherosclerosis. METHODS: This study included 68 patients with HS and 136 age- and sex-matched healthy control subjects. Patients with history of cardiovascular events, diabetes mellitus, chronic kidney disease, or another concomitant inflammatory condition were excluded. Carotid intima-media thickness and carotid plaques were measured by carotid ultrasonography. Adjustments were made for age, sex, and traditional cardiovascular risk factors. RESULTS: Patients had greater carotid intima-media thickness values than control subjects (0.615 ± 0.097 vs 0.578 ± 0.098 mm; P = .012). Carotid plaques were also more frequent in patients than in control subjects (30.9% vs 22.1%). In the multivariable regression model adjusted for age, sex, and traditional cardiovascular risk factors, HS was significantly related to the presence of carotid plaques (odds ratio 2.99, 95% confidence interval 1.26-7.13; P = .013). LIMITATIONS: Causality could not be assessed. CONCLUSIONS: These results indicate an increased frequency of subclinical atherosclerosis in patients with HS. Accordingly, HS should be considered a disease associated with potentially increased cardiovascular risk.


Assuntos
Doenças das Artérias Carótidas/epidemiologia , Hidradenite Supurativa/epidemiologia , Placa Aterosclerótica/epidemiologia , Adulto , Doenças das Artérias Carótidas/diagnóstico por imagem , Espessura Intima-Media Carotídea , Estudos de Casos e Controles , Comorbidade , Estudos Transversais , Feminino , Humanos , Masculino , Placa Aterosclerótica/diagnóstico por imagem , Prevalência , Fatores de Risco , Ultrassonografia
4.
Dermatology ; 232(2): 162-4, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-26444851

RESUMO

Hidradenitis suppurativa (HS) is a chronic, relapsing inflammatory skin disease affecting terminal hair follicles in apocrine-gland-bearing skin. The pathogenesis of HS is still unknown, although increasing evidence suggests that the immune system plays an important role. Herein we describe 3 patients with HS coexisting with autoimmune (Hashimoto's) thyroiditis (AT). To our knowledge, the co-occurrence of these two diseases has not previously been described. The coexistence of HS with autoimmune disorders, such as AT, may support the hypothesis on dysregulation of the immune system's function as implicated in the pathogenesis of HS. Based on our findings, we feel that an assessment of thyroid function and antithyroid antibodies should be performed in patients with HS.


Assuntos
Hidradenite Supurativa/complicações , Tireoidite Autoimune/complicações , Adulto , Feminino , Hidradenite Supurativa/tratamento farmacológico , Humanos , Masculino , Pessoa de Meia-Idade , Tireoidite Autoimune/tratamento farmacológico
6.
Rheumatology (Oxford) ; 54(1): 77-82, 2015 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-25065012

RESUMO

OBJECTIVE: Cutaneous vasculitis (CV) encompasses a wide group of entities characterized by inflammation of skin blood vessels. The term single-organ vasculitis was recently coined by the 2012 Chapel Hill Consensus Conference (CHCC) to define vasculitis affecting a single organ. To our knowledge there are no published reports on single-organ cutaneous small vessel vasculitis (SoCSVV). Our aim was to characterize this entity from a wide series of patients with CV. METHODS: We analysed cases of SoCSVV from a series of 766 patients with CV from a single university referral centre. According to 2012 CHCC, the following conditions were required to define SoCSVV: (i) skin biopsy showing characteristic leucocytoclastic vasculitis and (ii) vasculitis limited to skin. RESULTS: We included 60 patients (26 women and 34 men) with a mean age of 56 years. The main precipitating factors for SoCSVV were drugs [26 patients (52%)] and previous infection [17 patients (34%)]. The main clinical manifestations were palpable purpura (81.7%) and fever (18.3%). The most frequent laboratory findings were leucocytosis and elevated ESR. Nearly one-quarter of patients with SoCSVV required pharmacological therapy. Corticosteroids (15%) and NSAIDs (13.3%) were the main agents prescribed. After a median follow-up of 4 months, complete recovery was observed in all the patients, although relapses occurred in 8% of patients. CONCLUSION: SoCSVV defined according to the 2012 CHCC may be considered a benign disease usually associated with drugs and/or a previous infection.


Assuntos
Terminologia como Assunto , Vasculite Leucocitoclástica Cutânea/classificação , Vasculite Leucocitoclástica Cutânea/diagnóstico , Corticosteroides/uso terapêutico , Adulto , Idoso , Anti-Inflamatórios não Esteroides/uso terapêutico , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Pele/irrigação sanguínea , Resultado do Tratamento , Vasculite Leucocitoclástica Cutânea/tratamento farmacológico
7.
Clin Exp Rheumatol ; 33(2 Suppl 89): S-44-7, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-25665133

RESUMO

OBJECTIVES: In 2006 the European League Against Rheumatism (EULAR) proposed new classification criteria for Henoch-Schönlein purpura (HSP). We aimed to establish the applicability of these criteria in patients with primary cutaneous vasculitis (CV). We also compared these criteria with previously established classification criteria for HSP. METHODS: A series of 766 (346 women/420 men; mean age 34 years) consecutive unselected patients with CV was assessed. One hundred and twenty-four of them with secondary CV or with CV associated with other well defined entities were excluded from the analysis. The 2006 EULAR criteria for HSP were tested in the remaining 642 patients with primary CV. Two sets of criteria for HSP were used for comparisons: a) the 1990 American College of Rheumatology (ACR-1990), and b) the ACR modified criteria proposed by Michel et al. in 1992 (Michel-1992). RESULTS: 451 (70.2%) of 642 patients were classified as having HSP according to the EULAR-2006 criteria, 405 (63.1%) using the ACR-1990 criteria, and 392 (61.1%) by the Michel-1992 criteria. However, only 336 patients (52.3%) met at the same time the EULAR-2006 and the ACR-1990 criteria, and only 229 patients (35.7%) fulfilled both the EULAR-2006 and Michel-1992 criteria. It is noteworthy that only 276 (43%) patients met the three set of criteria. Children fulfilled all the sets of criteria more commonly than adults (215 [66.6%] of 323 vs. 61 [19%] of 319, respectively; p<0.0001). CONCLUSIONS: According to our results, the EULAR-2006 criteria show low concordance with previous sets of classification criteria used for HSP.


Assuntos
Vasculite por IgA/diagnóstico , Vasculite Leucocitoclástica Cutânea/diagnóstico , Adolescente , Adulto , Criança , Estudos de Coortes , Feminino , Humanos , Masculino , Estudos Retrospectivos , Dermatopatias Vasculares/diagnóstico , Vasculite/diagnóstico , Adulto Jovem
8.
Clin Exp Rheumatol ; 32(6): 864-8, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-25288110

RESUMO

OBJECTIVES: The aim of this paper is to assess the clinical response to golimumab (GLM) in patients with non-infectious uveitis from a single centre that had previously been treated with other anti-TNF-α drugs. METHODS: A retrospective chart review was carried out of patients with immune-mediated uveitis refractory to standard synthetic immunosuppressive drugs who were treated with GLM at Hospital Universitario Marqués de Valdecilla, Santander (Spain). Patients were included in this study if they had previously been treated with other anti-TNF-α drugs. A literature review of patients with immune-mediated uveitis undergoing GLM therapy was conducted. RESULTS: Three patients (2 men and 1 woman) were included in this study. Two of them were refractory to other anti-TNF-α drugs. The median age of patients was 26 years (range 20-42). Uveitis was bilateral in two patients. The underlying diseases were uveitis associated with HLA-B27 and psoriasis in one case and sarcoidosis in the other two cases. Improvement of the main ocular parameters following GLM therapy was achieved in all cases. After a median follow-up of 3 (range 1-9) months using GLM therapy, none of the patients had experienced new relapses of uveitis. None of them had side effects during treatment with this drug. A literature review disclosed that our observations were in keeping with other reports that showed good response to GLM in 13 of 16 patients with immune-mediated uveitis refractory to other biologic agents. CONCLUSIONS: Although the follow-up was too short in our series, GLM could be an effective and safe therapy for the management of patients with uveitis previously treated with other anti-TNF-α drugs.


Assuntos
Anticorpos Monoclonais/uso terapêutico , Imunossupressores/uso terapêutico , Fator de Necrose Tumoral alfa/antagonistas & inibidores , Uveíte/tratamento farmacológico , Adulto , Resistência a Medicamentos , Substituição de Medicamentos , Feminino , Humanos , Masculino , Estudos Retrospectivos , Espanha , Fatores de Tempo , Resultado do Tratamento , Uveíte/diagnóstico , Uveíte/imunologia , Adulto Jovem
9.
Clin Exp Rheumatol ; 32(3 Suppl 82): S34-40, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-24528895

RESUMO

OBJECTIVES: Hypersensitivity vasculitis (HV) and Henoch-Schönlein purpura (HSP) are the most common entities included within the category of cutaneous vasculitis (CV). Palpable purpura and histological changes characterised by the presence of leukocytoclastic vasculitis are common in both conditions. Therefore, considerable overlap between them is often seen. It is especially true when the CV occurs in adults. To further establish clinical differences between these two conditions, in the present study we assessed the main clinical differences between HV and HSP in a wide and unselected series of adults with CV from a defined population. METHODS: We reviewed the clinical records of 297 consecutive adults (age >20 years) seen at a single centre between January 1975 and December 2012 that were classified as having HSP or HV according to the criteria proposed by Michel et al. (J Rheumatol 1992; 19: 721-8). RESULTS: Based on the inclusion criteria, 102 adult patients (71 men/31 women) were classified as HSP and 195 (104 men/91 women) as HV. The mean age was similar in both groups (55.8±16.5 years in HSP and 56.8±18.3 years in HV). Precipitating events, usually an upper respiratory tract infection and/or drug intake, were more frequently observed in HV. Both at the beginning of the disease and when the CV was established clinical manifestations were more frequent in patients with HSP than in those with HV. It was the case for gastrointestinal (57.4% vs. 6.8%; p<0.001), joint (51.5% vs. 36.6%; p=0.01) and renal involvement (86.3% vs. 18.3%; p<0.001). Corticosteroid (56.7% vs. 22%; p<0.001) and cytotoxic drug (19.4% vs. 3.2%; p<0.001) use was also more common in patients with HSP. After a median follow-up of 15.5 (interquartile range- IQR; 3-37) months in HSP and 4 (IQR; 2-12) months in HV, the outcome was better in HV than in HSP. In this regard, complete recovery (72.6% vs. 85.4%; p=0.01) was more commonly observed in HV while residual renal involvement (15.3% vs. 4.2%; p<0.001) was more common in HSP. The disease relapsed in 35.3% of patients with HSP and in 24.4% with HV (p=0.07). CONCLUSIONS: Our results confirm the claim that these two diseases presenting with similar cutaneous involvement are certainly two separate entities with greater systemic involvement and less favourable outcome in HSP.


Assuntos
Hipersensibilidade a Drogas/complicações , Vasculite por IgA , Infecções Respiratórias/complicações , Pele/patologia , Vasculite Leucocitoclástica Cutânea , Adulto , Idade de Início , Técnicas de Laboratório Clínico , Diagnóstico Diferencial , Feminino , Hematúria/fisiopatologia , Humanos , Vasculite por IgA/diagnóstico , Vasculite por IgA/epidemiologia , Vasculite por IgA/etiologia , Vasculite por IgA/imunologia , Vasculite por IgA/fisiopatologia , Masculino , Pessoa de Meia-Idade , Gravidade do Paciente , Avaliação de Resultados da Assistência ao Paciente , Estudos Retrospectivos , Fatores de Risco , Espanha/epidemiologia , Vasculite Leucocitoclástica Cutânea/diagnóstico , Vasculite Leucocitoclástica Cutânea/epidemiologia , Vasculite Leucocitoclástica Cutânea/etiologia , Vasculite Leucocitoclástica Cutânea/imunologia , Vasculite Leucocitoclástica Cutânea/fisiopatologia
10.
Clin Exp Rheumatol ; 32(3 Suppl 82): S51-4, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-24854373

RESUMO

OBJECTIVES: The term cutaneous vasculitis (CV) includes a wide and heterogeneous group of entities. The American College of Rheumatology (ACR) established a set of criteria to classify vasculitis in 1990. Our aim was to further investigate into the applicability of these criteria for the classification of patients with primary CV. METHODS: We analysed a large and unselected series of patients with CV attended to a university referral centre from January 1976 to December 2011. Patients were classified according to the methodology and criteria proposed by the ACR1990 core data set. Patients were also classified according to the same ACR 1990 database as proposed by Michel et al. in 1992 to differentiate Henoch-Schönlein purpura (HSP) from hypersensitivity vasculitis (HV). RESULTS: We assessed 766 patients (346 women and 420 men) with a mean age of 34 years. Patients with cutaneous lesions in the setting of conditions different from primary CV were excluded. According to the 1990 ACR criteria, 405 (63.1%) of the 642 patients with primary CV were classified as having HSP and 230 (35.8%) as HV. However, 119 (18.5%) patients fulfilled the ACR 1990 criteria for both entities. In addition, 7 (1.1%) did not meet the ACR 1990 criteria for any of them and, therefore, they were considered as non-classified vasculitis. When patients with primary CV were tested for the Michel et al. criteria, 392 (61.1%) were classified as having HSP and 250 (38.9%) as HV. Frequent discordance between the ACR 1990 and the Michel et al. criteria was observed. It ranged between 18.4 and 21.7% for HSP and 32.2 to 38% for HV. CONCLUSIONS: According to our data, the ACR 1990 criteria are of limited value for the classification of patients with primary CV.


Assuntos
Pele/patologia , Vasculite Leucocitoclástica Cutânea/diagnóstico , Vasculite , Adulto , Biópsia/métodos , Classificação/métodos , Diagnóstico Diferencial , Feminino , Humanos , Masculino , Estudos Retrospectivos , Reumatologia/métodos , Espanha , Vasculite/classificação , Vasculite/diagnóstico
11.
Clin Exp Rheumatol ; 32(4 Suppl 84): S54-7, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-25005576

RESUMO

OBJECTIVES: To evaluate the clinical response to Tocilizumab (TCZ) in three patients with non-infectious uveitis refractory to anti-TNF-α drugs. METHODS: Assessment of TCZ-treated patients with immune-mediated uveitis from two Spanish medical referral centers. Uveitis had been refractory to previous standard synthetic immunosuppressive drugs and at least one TNF-α inhibitor. A literature review of patients with immune-mediated uveitis treated with TCZ therapy was also conducted. RESULTS: 3 women (5 eyes) with uveitis refractory to conventional immunosuppressive therapy and at least one anti-TNF-α drug were treated with TCZ. The mean age of the patients was 48.6±16.1 (range 37-67) years. In two cases uveitis was bilateral and in the other unilateral. The underlying diseases were rheumatoid arthritis in one case and Behçet's disease in the other two cases. After a mean follow-up of 7.3±5.7 (range 1-12) months using TCZ therapy, all patients experienced ocular improvement. Also, in 3 eyes inactive intraocular inflammation was achieved. None of the patients had side effects during the period of treatment with this drug. A literature review disclosed that our observations are in keeping with other reports that showed good response to TCZ in 11 of 12 patients with immune-mediated uveitis refractory to other biologic agents. CONCLUSIONS: TCZ appears to be an effective and safe therapy for the management of patients with uveitis refractory to other biologic drugs.


Assuntos
Anticorpos Monoclonais Humanizados/uso terapêutico , Imunossupressores/uso terapêutico , Uveíte/tratamento farmacológico , Adulto , Idoso , Resistência a Medicamentos , Feminino , Humanos , Resultado do Tratamento , Uveíte/patologia
12.
Rev Esp Patol ; 56(3): 186-190, 2023.
Artigo em Espanhol | MEDLINE | ID: mdl-37419557

RESUMO

We present a case of a 64-year-old male with a history of Crohn's disease who presented with an episode of acute abdominal pain. He was being investigated for a dermatological lesion. A skin and lung biopsy both revealed histiocytosis of the "L" (Langerhans) group. The skin biopsy showed a proliferation of histiocytic cells expressing Langerin, CD1a and S100 and the molecular study was positive for the BRAF p.V600E mutation. In the lung biopsy, a proliferation of histiocytic cells was found, which were positive for CD68 and S100 and negative for Langerin and CD1a; mutations in NRAS c.38G>A in exon 2 (p.G13D) were also detected.


Assuntos
Doença de Erdheim-Chester , Histiocitose de Células de Langerhans , Masculino , Humanos , Pessoa de Meia-Idade , Doença de Erdheim-Chester/complicações , Doença de Erdheim-Chester/genética , Doença de Erdheim-Chester/patologia , Proteínas Proto-Oncogênicas B-raf/genética , Histiocitose de Células de Langerhans/complicações , Histiocitose de Células de Langerhans/genética , Histiocitose de Células de Langerhans/patologia , Mutação , Histiócitos/patologia , Proteínas de Membrana/genética , GTP Fosfo-Hidrolases/genética
13.
Eur J Intern Med ; 108: 60-67, 2023 02.
Artigo em Inglês | MEDLINE | ID: mdl-36446677

RESUMO

OBJECTIVE: The aim of this study was to evaluate the frequency of systemic treatment in a cohort of sarcoidosis patients and identify presenting clinical features as predictive factors of the need for systemic immunosuppressive therapy. METHODS: Retrospective study of 342 patients diagnosed and followed-up from January 1999 to December 2019 in a University Hospital in Northern Spain. The diagnosis of sarcoidosis was established according to ATS/ERS/WASOG criteria. A comparative analysis was performed between treated and untreated patients. Predictive factors of treatment prescription according to initial clinical manifestations were identified (multivariate analysis). RESULTS: Mean age at diagnosis was 47.7±15.1 years, with a slight female predominance (51.8%) and Caucasian majority (94.2%). The main clinical manifestation was thoracic involvement (88.3%). Extrathoracic manifestations were detected in 68.4% cases, mainly cutaneous (34.2%), articular (27.8%) and ocular (17.8%). A total of 207 (60.5%) patients required systemic treatment. Glucocorticoid therapy was the most widely used (60.5%). Conventional immunosuppressive therapy in 25.4%, more frequently MTX (21.9%). Biologic therapy was prescribed in 12.9%, especially adalimumab (9.1%). Male gender (OR: 1.65; 95%CI: 1.06-2.56), intrathoracic (OR: 2.41; 95%CI: 1.22-4.76), ocular (OR: 4.14; 95%CI: 2.01-8.52), parotid (OR: 1.60; 95%CI: 1.39-1.94), neurological (OR: 5.00; 95%CI: 1.68-14.84), and renal (OR: 1.59; 95%CI: 1.38-1.94) involvement were identified as risk factors associated with the need of systemic treatment. CONCLUSION: Most patients (60.5%) of sarcoidosis in our series required systemic therapy. An association between certain characteristics at initial presentation (male gender, lung, ocular, parotid, neurological and renal involvement) and the need of systemic treatment was identified.


Assuntos
Sarcoidose , Humanos , Masculino , Feminino , Estudos Retrospectivos , Sarcoidose/tratamento farmacológico , Sarcoidose/epidemiologia , Sarcoidose/complicações , Fatores de Risco , Pele , Pulmão , Imunossupressores/uso terapêutico
14.
Clin Cancer Res ; 29(13): 2445-2455, 2023 07 05.
Artigo em Inglês | MEDLINE | ID: mdl-36862133

RESUMO

PURPOSE: To overcome barriers to genomic testing for patients with rare cancers, we initiated a program to offer free clinical tumor genomic testing worldwide to patients with select rare cancer subtypes. EXPERIMENTAL DESIGN: Patients were recruited through social media outreach and engagement with disease-specific advocacy groups, with a focus on patients with histiocytosis, germ cell tumors (GCT), and pediatric cancers. Tumors were analyzed using the MSK-IMPACT next-generation sequencing assay with the return of results to patients and their local physicians. Whole-exome recapture was performed for female patients with GCTs to define the genomic landscape of this rare cancer subtype. RESULTS: A total of 333 patients were enrolled, and tumor tissue was received for 288 (86.4%), with 250 (86.8%) having tumor DNA of sufficient quality for MSK-IMPACT testing. Eighteen patients with histiocytosis have received genomically guided therapy to date, of whom 17 (94%) have had clinical benefit with a mean treatment duration of 21.7 months (range, 6-40+). Whole-exome sequencing of ovarian GCTs identified a subset with haploid genotypes, a phenotype rarely observed in other cancer types. Actionable genomic alterations were rare in ovarian GCT (28%); however, 2 patients with ovarian GCTs with squamous transformation had high tumor mutational burden, one of whom had a complete response to pembrolizumab. CONCLUSIONS: Direct-to-patient outreach can facilitate the assembly of cohorts of rare cancers of sufficient size to define their genomic landscape. By profiling tumors in a clinical laboratory, results could be reported to patients and their local physicians to guide treatment. See related commentary by Desai and Subbiah, p. 2339.


Assuntos
Neoplasias Embrionárias de Células Germinativas , Neoplasias Ovarianas , Humanos , Feminino , Mutação , Genômica , Neoplasias Ovarianas/tratamento farmacológico , Neoplasias Ovarianas/genética , Exoma
15.
Cancer Epidemiol ; 76: 102081, 2022 02.
Artigo em Inglês | MEDLINE | ID: mdl-34922051

RESUMO

BACKGROUND: Merkel cell carcinoma (MCC) is a malignant skin cancer with a 5-year survival rate of approximately 50%. Knowledge of MCC has increased in recent years mostly due to improved diagnosis techniques. In Spain there is lack of information regarding the incidence and tumour characteristics, and the treatment approaches are not standardised. The objective of this study was to provide information of the clinical and epidemiological characteristics of MCC patients in Spain. METHODS: Retrospective, observational study involving 192 patients from 25 Spanish hospitals. Evaluated variables included overall survival and incidence rate of Merkel cell polyomavirus, in patients diagnosed from 2012 to 2016. RESULTS: The Spanish incidence rate was estimated 0.32/100,000 inhabitants/year, with variations according to geographical regions, being slightly higher in areas with greater sunlight exposure. In total, 61.5% of tumours showed expansive growth (progressive growth of the tumour), 78.6% showed localisation in UV-exposed skin. 97.4% of patients were diagnosed by excisional biopsy. Surgery was the first line treatment in 96.6% of patients, radiotherapy in 24.6%, and chemotherapy in 6.3%. These treatments were not mutually exclusive. Median overall survival was 38.3 months (78.4% at 12 months and 60% at 24 months). MCPyV was present in 33.8% of patients. CONCLUSION: The incidence of MCC in Spain is one of the highest in Europe, with a slight predominance in men. The sample has shown that a biopsy is available for diagnosis in most cases. Moreover, the treatment is surgical when the tumour is localized and is associated with lymphadenectomy, and/or it is radiotherapy if widespread.


Assuntos
Carcinoma de Célula de Merkel , Poliomavírus das Células de Merkel , Neoplasias Cutâneas , Carcinoma de Célula de Merkel/epidemiologia , Carcinoma de Célula de Merkel/terapia , Seguimentos , Humanos , Masculino , Estudos Retrospectivos , Neoplasias Cutâneas/epidemiologia , Neoplasias Cutâneas/terapia , Espanha/epidemiologia
16.
Eur J Intern Med ; 91: 63-69, 2021 09.
Artigo em Inglês | MEDLINE | ID: mdl-34049777

RESUMO

BACKGROUND: The incidence of sarcoidosis varies widely worldwide. The aim of this study was to estimate the incidence of sarcoidosis in a population-based cohort from northern Spain. METHODS: Patients diagnosed with sarcoidosis at Marqués de Valdecilla University Hospital, corresponding to the central Cantabria that encompasses Santander city and the surroundings, between January 1999 and December 2019were assessed. The diagnosis of sarcoidosis was established according to ATS/ERS/WASOG criteria as follows: compatible clinical and radiological presentation, histopathologic confirmation, and exclusion of other granulomatous diseases. Demographic and clinical data were collected. The incidence of sarcoidosis between 1999-2019 was estimated by sex, age, and year of diagnosis. RESULTS: A total of 234 patients were included, with a male/female ratio of 0.81. The mean age of the cohort at diagnosis was 48.43 ± 14.83 years and 129 (55.1%) were women. Incidence during the period of study was 3.58 per 100,000 populations (95% confidence interval: 3.13 - 4.07). No gender predominance was observed. An increase in age at diagnosis over time was found in the linear regression analysis. Thoracic affection was found in 180 patients (76.9%). Most common extra-thoracic areas affected were skin (34.2%), joints (30.8%) and eyes (15.4%). CONCLUSIONS: The incidence of sarcoidosis estimated in this study was similar to that of other Mediterranean countries. No gender predominance was observed. Consistent with previous studies, male presented an incidence peak 10 years earlier than female. A second peak between ages 60-69 years was identified in both sexes.


Assuntos
Sarcoidose , Adulto , Idoso , Feminino , Humanos , Incidência , Masculino , Pessoa de Meia-Idade , Radiografia , Estudos Retrospectivos , Sarcoidose/epidemiologia , Pele , Espanha/epidemiologia
17.
Cutis ; 86(3): 143-7, 2010 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-21049732

RESUMO

Cutaneous plasmacytosis is an uncommon disease characterized by a cutaneous polyclonal plasma cell infiltrate usually associated with polyclonal hypergammaglobulinemia. It has predominantly been found in Japanese patients and it is rare in white patients. Clinically, this condition manifests as multiple red to dark brown skin lesions that mainly are located on the trunk. We report the case of a 66-year-old white woman who presented with reddish brown to violaceous macules and plaques restricted to the extremities. The histopathologic findings, laboratory data, and systemic studies led us to the diagnosis of cutaneous plasmacytosis.


Assuntos
Plasmócitos/metabolismo , Dermatopatias/diagnóstico , População Branca , Idoso , Feminino , Humanos , Extremidade Inferior/patologia , Dermatopatias/patologia , Extremidade Superior/patologia
18.
Arch Dermatol Res ; 312(8): 595-600, 2020 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31786710

RESUMO

Hidradenitis suppurativa (HS) is a chronic inflammatory disease associated with insulin resistance (IR), metabolic syndrome and increased cardiovascular risk. Adipokines are biologically active, pleotropic molecules which have been involved in the development of IR and in the pathogenesis of several chronic inflammatory conditions. The aim of the present study was to analyze serum concentrations of adiponectin, leptin, resistin and visfatin in patients with HS, and investigate their possible associations with IR, HS risk and disease severity. This case-control study enrolled 137 non-diabetic individuals (76 HS-patients and 61 age and sex-matched controls). Serum concentrations of adiponectin, leptin, resistin and visfatin, and the homeostasis model assessment of IR (HOMA-IR) were measured in all the participants. Serum adiponectin concentrations were found to be significantly lower, and leptin, resistin and visfatin levels were significantly higher in HS-patients than in controls. These differences remained significant even after adjusting for age, sex and body mass index, except for leptin. In a multivariate regression analysis, HOMA-IR was inversely correlated with adiponectin and positively associated with resistin levels. Furthermore, serum levels of resistin and visfatin were independently associated with HS risk. However, we found no association between serum levels of adipokines and HS severity. Our results suggest that reduced adiponectin and increased resistin serum levels may be surrogate biomarkers for IR in patients with HS. Moreover, resistin and visfatin might be independent risk factors for the development of HS.


Assuntos
Hidradenite Supurativa/diagnóstico , Resistência à Insulina , Adiponectina/sangue , Adulto , Biomarcadores/sangue , Estudos de Casos e Controles , Estudos Transversais , Citocinas/sangue , Feminino , Hidradenite Supurativa/sangue , Hidradenite Supurativa/metabolismo , Humanos , Leptina/sangue , Masculino , Pessoa de Meia-Idade , Nicotinamida Fosforribosiltransferase/sangue , Resistina/sangue , Fatores de Risco , Índice de Gravidade de Doença
20.
Rev Esp Patol ; 51(3): 188-192, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30012313

RESUMO

Taxanes are antineoplastic drugs that can cause dermatotoxicity which can mimic an intraepidermal carcinoma. A 65-year-old woman presented with a cutaneous eruption suggestive of a paraneoplastic syndrome. Imaging studies showed multiple peritoneal nodules and associated ascites. A sample taken from the greater omentum revealed an adenocarcinoma. Clinical data and family history pointed to a gynecological origin of the tumor and the patient was treated with carboplatin and paclitaxel. A new cutaneous biopsy showed that the epidermis was acanthotic with atypical keratinocytes, abundant mitoses, and apoptotic figures, arising concerns of malignancy. According to the Plummer and Shea criteria, the lesion was ultimately interpreted as reactive cutaneous hyperplasia and expression of the taxane effect. We report, for the first time, paclitaxel-induced histologic changes on a previous cutaneous eruption. Pathologists should be aware of the profound cytopathic effects of taxane therapy in order to interpret skin biopsies of patients undergoing this treatment.


Assuntos
Antineoplásicos Fitogênicos/efeitos adversos , Toxidermias/etiologia , Toxidermias/patologia , Paclitaxel/efeitos adversos , Neoplasias Cutâneas/patologia , Idoso , Diagnóstico Diferencial , Feminino , Humanos
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