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1.
Artigo em Inglês | MEDLINE | ID: mdl-39260800

RESUMO

INTRODUCTION: Histological analysis of the pleura obtained by video-assisted thoracoscopic surgery (VATS) is the best diagnostic technique in the study of neoplastic pleural effusions. This study evaluates the relationship between Positron Emission Tomography (PET)/Computed Tomography (CT) and VATS findings, the result of the first pleural biopsy, and the final diagnosis of malignancy or non-malignancy. METHODS: Prospective study of consecutive patients with pleural effusions undergoing PET/CT and VATS from October 2013 to December 2023. The following variables were recorded: PET/CT score (nodular pleural thickening, pleural nodules with standardized uptake value (SUV) > 7.5, lung mass or extra pleural malignancy, mammary lymph node with SUV > 4.5 and cardiomegaly); VATS data (drained volume, visceral and parietal pleural thickening, nodules or masses, septa, plaques, fluid appearance, trapped lung, and suspected diagnosis of the procedure), as well as the histological study of the first pleural biopsy (benign or malignant) and the final diagnosis of benign or malignant pleural effusion. A logistic regression study of the variables was performed. RESULTS: 95.8% of the patients with PET/CT and pleuroscopy not suggestive of malignancy had non-malignant histological findings, while 93.2% of the patients with PET/CT and pleuroscopy suggestive of malignancy had malignant histological findings. PET/CT, pleuroscopy, and the result of the first pleural biopsy showed a significant association with the final diagnosis of pleural effusion. CONCLUSIONS: There is a strong association between PET/CT findings, VATS and pleural histology.

2.
Artigo em Inglês | MEDLINE | ID: mdl-39181954

RESUMO

Posttransplant cyclophosphamide, sirolimus and mycophenolate mofetil (PTCy/siro/MMF) constitutes an innovative and well-tolerated acute graft-versus-host disease (aGVHD) prophylaxis after allogeneic stem cell transplantation (allo-HSCT), but risk factors for aGVHD incidence and therapy failure in this setting are scarce. This study prospectively registered all consecutive adult patients with hematologic malignancies who received a myeloablative allo-HSCT using PTCy/siro/MMF prophylaxis at our institution between 2017 and 2023. A total of 385 patients were included, of whom 44%, 34% and 22% were transplanted from matched sibiling, matched unrelated and haploidentical donors, respectively. The 180-day cumulative incidence of aGVHD was 21% (95% confidence interval [CI] 17-25%) for grade II-IV and 11% (95% CI 8-14%) grade III-IV aGVHD. The use of haploidentical donors was associated with an increased risk of severe aGVHD. Among 75 patients receiving first-line systemic corticosteroids, 49% achieved a sustained complete response, while 23% and 24% developed steroid-dependent (SD-aGVHD) and steroid-refractory aGVHD (SR-aGVHD), respectively. SR-aGVHD was associated with worse salvage treatment response and overall survival compared to SD-aGVHD. The 1-year cumulative incidence of aGVHD-related mortality was 5.4% (95% CI, 3.3-8.1). Risk factors for aGVHD-related mortality included haploidentical donors, older donors, diagnosis of myeldysplastic neoplasms, and grade IV aGVHD. This study confirms a low incidence aGVHD with PTCy/siro/MMF prophylaxis. SR-aGVHD showed poorer response to salvage therapies and worse survival, while haploidentical donors and older donor age were negative predictors for aGVHD-related deaths.

4.
Ann Hematol ; 97(12): 2417-2424, 2018 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-30116871

RESUMO

Burkitt's monomorphic posttransplant lymphoproliferative disorder (B-PTLD) is an uncommon subtype of PTLD. Owing to the paucity of this complication, clinical characteristics and outcome has not been fully described. Clinical characteristics and outcomes of 20 patients diagnosed with B-PTLD from 10 transplant centers belonging to the GEL/TAMO group were reviewed. Median time from transplant to B-PTLD was 7.2 years. All the cases fulfill the morphologic and genetic criteria of B-PTLD, whereas Epstein-Barr virus (EBV) was detected in 70% of cases. Patients were treated with different chemotherapy combinations, and three patients received upfront rituximab monotherapy. The great majority of patients receiving CHOP-like regimens attained a complete response (CR) (73%), similar to that obtained with dose-intensive chemotherapy (83% CR). In contrast, patients receiving upfront rituximab monotherapy required subsequent chemotherapy. Two patients (10%) died during treatment due to infection. The median progression-free survival and overall survival (OS) were 16 months and 139 months, respectively. When analyzing variables predicting for OS, we found that patients with bone marrow involvement had an adverse prognosis, with a median OS of 6 months (p = 0.008). In conclusion, B-PTLD is an uncommon complication usually associated with EBV infection and with an aggressive clinical course, particularly in patients with bone marrow involvement. High-dose chemoimmunotherapy obtained similar responses to R-CHOP, suggesting that R-CHOP could be an adequate alternative for these patients. In contrast, rituximab monotherapy does not seem to be effective enough to control the disease.


Assuntos
Protocolos de Quimioterapia Combinada Antineoplásica/administração & dosagem , Linfoma de Burkitt , Transplante de Células-Tronco Hematopoéticas , Transplante de Órgãos , Adulto , Idoso , Aloenxertos , Anticorpos Monoclonais Murinos/administração & dosagem , Linfoma de Burkitt/sangue , Linfoma de Burkitt/tratamento farmacológico , Linfoma de Burkitt/etiologia , Linfoma de Burkitt/mortalidade , Ciclofosfamida/administração & dosagem , Intervalo Livre de Doença , Doxorrubicina/administração & dosagem , Feminino , Herpesvirus Humano 4 , Humanos , Masculino , Pessoa de Meia-Idade , Prednisona/administração & dosagem , Rituximab , Taxa de Sobrevida , Vincristina/administração & dosagem
5.
Bone Marrow Transplant ; 51(3): 384-90, 2016 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-26642334

RESUMO

Little is known about the prognostic impact of prior paclitaxel therapy and response to induction chemotherapy defined as the regimen preceding high-dose chemotherapy (HDCT) for the salvage therapy of advanced germ cell tumors. Twenty European Society for Blood and Marrow Transplantation centers contributed data on patients treated between 2002 and 2012. Paclitaxel used in either prior lines of therapy or in induction-mobilization regimens was considered. Multivariable Cox analyses of prespecified factors were undertaken on PFS and overall survival (OS). As of October 2013, data for 324 patients had been contributed to this study. One hundred and ninety-two patients (59.3%) had received paclitaxel. Sixty-one patients (19%) had a progression to induction chemotherapy, 234 (72%) a response (29 (9%) missing or granulocyte colony-stimulating factor without chemotherapy). Both progression to induction chemotherapy and prior paclitaxel were significantly associated with shorter OS univariably (P<0.001 and P=0.032). On multivariable analysis from the model with fully available data (N=216) progression to induction was significantly prognostic for PFS and OS (P=0.003), but prior paclitaxel was not (P=0.674 and P=0.739). These results were confirmed after multiple imputation of missing data. Progression to induction chemotherapy could be demonstrated as an independent prognostic factor, in contrast to prior paclitaxel.


Assuntos
Quimioterapia de Indução , Neoplasias Embrionárias de Células Germinativas/mortalidade , Neoplasias Embrionárias de Células Germinativas/terapia , Paclitaxel/administração & dosagem , Terapia de Salvação , Intervalo Livre de Doença , Feminino , Humanos , Masculino , Taxa de Sobrevida , Adulto Jovem
6.
Lung ; 193(6): 993-1000, 2015 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-26423784

RESUMO

BACKGROUND: Pleurofibrinolysis has been reported to be potentially beneficial in the management of complicated parapneumonic effusions (CPPE) and empyemas in the adult population. METHODS: Prospective, controlled, randomized, and double-blind study, to evaluate intrapleural alteplase 10 mg (initially 20 mg was considered but bleeding events forced dose reduction) versus 100,000 UI urokinase every 24 h for a maximum of 6 days in patients with CPPE or empyemas. The primary aim was to evaluate the success rate of each fibrinolytic agent at 3 and 6 days. Success of therapy was defined as the presence of both clinical and radiological improvement, making additional fibrinolytic doses unnecessary, and eventually leading to resolution. Secondary outcomes included the safety profile of intrapleural fibrinolytics, referral for surgery, length of hospital stay, and mortality. RESULTS: A total of 99 patients were included, of whom 51 received alteplase and 48 urokinase. Success rates for urokinase and alteplase at 3 and 6 days were not significantly different, but when only the subgroup of CPPE was considered, urokinase resulted in a high proportion of cures. There were no differences in mortality or surgical need (overall, 3 %). Five (28 %) patients receiving 20 mg of alteplase and 4 (12 %) receiving 10 mg presented serious bleeding events. CONCLUSIONS: If intrapleural fibrinolytics are intended to be used, urokinase may be more effective than alteplase in patients with non-purulent CPPE and have a lower rate of adverse events.


Assuntos
Empiema Pleural/tratamento farmacológico , Fibrinolíticos/uso terapêutico , Derrame Pleural/tratamento farmacológico , Terapia Trombolítica/métodos , Ativador de Plasminogênio Tecidual/uso terapêutico , Ativador de Plasminogênio Tipo Uroquinase/uso terapêutico , Adulto , Idoso , Tubos Torácicos , Método Duplo-Cego , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Resultado do Tratamento
7.
J Investig Allergol Clin Immunol ; 25(4): 276-82, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-26310042

RESUMO

BACKGROUND: Nasal polyposis (NP) is a chronic inflammatory disease that constitutes a major health problem with significant comorbidities and a considerable associated socioeconomic burden. OBJECTIVE: To describe the clinical features and management of patients with NP attending Spanish allergy centers, the use of health care resources, and the degree of compliance with the diagnostic and therapeutic recommendations of the European Position Paper on Rhinosinusitis and Nasal Polyps (EPOS). METHODS: We performed a multicenter, observational, and cross-sectional epidemiologic study of 671 patients consulting for NP in 67 Spanish allergy departments. We used sociodemographic and clinical questionnaires to evaluate clinical characteristics, use of health care resources, diagnostic methods, and treatment administered. RESULTS: NP was closely associated with asthma (66%), allergic rhinitis (45.9%), and hypersensitivity to nonsteroidal anti-inflammatory drugs (NSAIDs) (26%). Atopy was present in the 50% of cases, with Dermatophagoides pteronyssinus as the most frequent sensitizing allergen. Eleven percent of NP patients visited the emergency department during the previous year, and more than 58% used primary care, allergy, or otorhinolaryngology services. The most frequently used diagnostic tests were skin prick tests (93.6%) and anterior rhinoscopy (79.4%). Intranasal corticosteroids were the drug class most frequently prescribed by allergists (74.6%). Specific immunotherapy was prescribed in 21% of patients. CONCLUSIONS: NP is a chronic inflammatory disease that generates considerable use of health care resources. The close association with atopy, asthma, and NSAID hypersensitivity highlights the usefulness of an allergy workup in all patients with NP. Analysis of the clinical management of NP by allergists in Spain revealed a high degree of compliance with EPOS diagnostic and therapeutic recommendations.


Assuntos
Recursos em Saúde , Pólipos Nasais/terapia , Adolescente , Adulto , Comorbidade , Estudos Transversais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade
9.
An Pediatr (Barc) ; 83(5): 341-5, 2015 Nov.
Artigo em Espanhol | MEDLINE | ID: mdl-25804551

RESUMO

INTRODUCTION: Aplasia cutis congenita (ACC) is a rare congenital malformation that commonly involves the scalp, but can affect pericranium, bone and dura mater. Complications are rare, but can be fatal, so early treatment must be achieved. The treatment remains controversial with no consensus between the conservative and surgical approach. The aim of this study is to describe our experience in the management of ACC. MATERIAL AND METHODS: Retrospective review of the medical records of all children up to 14 years diagnosed with ACC and treated between 2000 and 2013. RESULTS: There were a total of 22 cases of ACC with lesions ranging from 1cm (0.79 cm(2)) to 14cm (153.94 cm(2)). ACC of the scalp was found in 18 cases, with 3 in extremities and 1 in trunk. Conservative treatment was performed on 9 patients and 13 underwent surgical treatment (8 primary closures, 2 plasties, 2 skin grafts, and 1 skin flap). Two patients died due to complications of other diseases not related with the ACC. CONCLUSIONS: ACC is a rare disease that can be fatal. A complete initial assessment to establish early treatment is necessary to prevent this. Surgery should be considered as an initial therapeutic option in defects >4cm (>12.6 cm(2)) as it prevents the risk of fatal complications.


Assuntos
Displasia Ectodérmica/cirurgia , Transplante de Pele , Criança , Humanos , Estudos Retrospectivos , Couro Cabeludo/patologia , Retalhos Cirúrgicos/cirurgia
10.
J Investig Allergol Clin Immunol ; 25(6): 396-407, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-26817136

RESUMO

Nasal hyperreactivity is the abnormal reaction of nasal tissue to a stimulus that is innocuous to most people. This response is caused by dysregulation of the autonomic nervous system at various levels of the nasal autonomic reflex arc. Various stimuli (methacholine, histamine, adenosine 5'-monophosphate, cold air, mannitol, rapsaicin, phentolamine, and distilled water) have been used in an attempt to find the test that most reliably differentiates between healthy individuals and patients and also between different types of rhinitis. Despite the small number of publications available, in the present review, we provide an update on current nonspecific nasal provocation techniques. The studies published to date are not comparable: the stimuli applied act through different mechanisms and are used to assess different pathways, and the methodologies differ in terms of selection of participants, concentrations used, and assessment of response (criteria for positivity). Given the limited use of nonspecific nasal provocation tests in routine clinical practice, we believe that more studies are warranted to address the research issues we present at the end of the present review, for example, the need to standardize the methodology for each test or even the clinical benefits of knowing whether or not a patient has nasal hyperreactivity.


Assuntos
Testes de Provocação Nasal/métodos , Rinite Alérgica/diagnóstico , Histamina/farmacologia , Humanos , Cloreto de Metacolina/farmacologia
11.
An Pediatr (Barc) ; 82(1): e56-9, 2015 Jan.
Artigo em Espanhol | MEDLINE | ID: mdl-24565985

RESUMO

Appendiceal intussusception is a rare condition that can occur at any age. Only a few cases have been reported, and most are found during surgery. The therapeutic approach is usually surgical, ranging from an appendectomy to a hemicolectomy, primarily for biopsy and to rule out possible malignancy. Three cases of children under 14 years who underwent surgery for acute abdominal pain located in the right iliac fossa are presented; one with preoperative diagnosis by ultrasound, and the other two with positive intraoperative findings of intussusception of the cecal appendix, with acute appendicitis being histologically confirmed.


Assuntos
Abdome Agudo/etiologia , Apêndice , Doenças do Ceco/etiologia , Intussuscepção/complicações , Criança , Pré-Escolar , Humanos , Masculino
13.
J Pediatr Surg ; 48(1): 251-4, 2013 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-23331825

RESUMO

We report the case of a 13 year-old girl transferred to our department with a one month history of vomiting, weight loss, and abdominal mass that was diagnosed as Focal Nodular Hyperplasia in an accessory lobe of the liver. Accessory liver lobe is a rare congenital anomaly whose preoperative diagnosis is difficult and usually presents as an incidental finding intraoperatively. Depending on their location and size, they can present as acute abdomen or abdominopelvic mass. In the literature reviewed, we found no association of focal nodular hyperplasia and accessory liver lobe in children.


Assuntos
Hiperplasia Nodular Focal do Fígado/diagnóstico , Fígado/anormalidades , Adolescente , Feminino , Hiperplasia Nodular Focal do Fígado/complicações , Hiperplasia Nodular Focal do Fígado/cirurgia , Humanos , Fígado/cirurgia
14.
Int J Clin Pharm ; 34(4): 644-50, 2012 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-22684355

RESUMO

OBJECTIVE: The therapeutic benefit of inhaled corticoids in bronchiectasis not due to cystic fibrosis is still not well documented. The aim of the present study was to assess the efficacy and safety of inhaled corticoids in this disease. SETTING: This study was conducted at a tertiary university hospital in the city of Barcelona, Catalonia, (Spain). METHOD: A prospective, double-blind, parallel, placebo-masked study was conducted. Seventy-seven patients (40 women; mean age: 68 years) were randomly assigned to receive either 400 mcg budesonide twice daily or placebo and were regularly reviewed for six months. RESULTS: Differences in forced vital capacity and forced expiratory volume in the first second between the beginning and end of the study were not significantly lower in the budesonide group than in the placebo group, either in absolute values [-17.4 (386.9) versus -21.4 (375.5)] or in percentages [-1.9(9.5) versus -2.8 (11.6)]. Microbiological criteria applied to evaluate changes between the beginning and end of the study showed no worsening in the budesonide group compared with the control group, whereas a non-significant improvement was obtained in 8.1 % of cases in the budesonide group compared to 3 % in the placebo group. Although significance was only achieved for sputum eosinophils (p = 0.021), a consistent tendency towards improvement was also observed in secondary end-points (symptoms, number and duration of exacerbations, quality of life, sputum cytology and interleukin-8) in the budesonide group. CONCLUSION: Although further studies are required, inhaled corticoid treatment may be efficacious and safe in bronchiectasis not due to cystic fibrosis.


Assuntos
Bronquiectasia/tratamento farmacológico , Budesonida/efeitos adversos , Budesonida/uso terapêutico , Glucocorticoides/efeitos adversos , Glucocorticoides/uso terapêutico , Administração por Inalação , Idoso , Bronquiectasia/sangue , Bronquiectasia/microbiologia , Budesonida/administração & dosagem , Método Duplo-Cego , Feminino , Volume Expiratório Forçado/efeitos dos fármacos , Glucocorticoides/administração & dosagem , Humanos , Interleucina-8/sangue , Masculino , Qualidade de Vida , Escarro/citologia , Escarro/microbiologia , Capacidade Vital/efeitos dos fármacos
15.
J Endocrinol Invest ; 35(1): 25-7, 2012 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-21521938

RESUMO

BACKGROUND: The use of recombinant human TSH (rhTSH) is indicated to evaluate thyroid carcinoma patients. In recent years, some authors have reported that rhTSH could serve as a dynamic test of thyroid reserve. The aim of the present study was to determine whether or not rhTSH can predict the evolution from subclinical hypothyroidism (SH) to overt hypothyroidism. MATERIALS AND METHODS: Twenty-one women who met the diagnostic criteria of SH were enrolled. All patients received a single dose of rhTSH (0.1 mg). Basal blood samples for TSH, free T4 (fT4), thyroglobulin (Tg), and anti-thyoperoxidase and anti-Tg antibodies were obtained before and 1 day after rhTSH administration. All patients were followed for 2 yr, and blood samples were obtained every 6 months. RESULTS: Twenty-four hours after rhTSH administration, the TSH level increased to >20 mU/l in 14 patients; the serum peak TSH levels remained <10 mU/l in only 5 patients. On follow-up, 7 women (33%) required L-T4 replacement therapy for overt hypothyroidism or a persistent TSH level >10 mlU/l. None of the parameters analyzed differed significantly between patients who developed overt hypothyroidism from those who had persistent SH. CONCLUSIONS: The response of thyroid function tests to a single low dose of rhTSH is not useful in identifying those patients with SH who will develop overt hypothyroidism over a 2-yr period.


Assuntos
Biomarcadores/sangue , Hipotireoidismo/diagnóstico , Tirotropina Alfa/administração & dosagem , Tirotropina Alfa/sangue , Adulto , Idoso , Progressão da Doença , Feminino , Seguimentos , Humanos , Hipotireoidismo/sangue , Hipotireoidismo/tratamento farmacológico , Pessoa de Meia-Idade , Projetos Piloto , Prognóstico , Estudos Prospectivos , Testes de Função Tireóidea
16.
Cir Pediatr ; 24(3): 184-7, 2011 Aug.
Artigo em Espanhol | MEDLINE | ID: mdl-22295664

RESUMO

UNLABELLED: The infantile myofibromatosis is a rare pathology usually affecting children under 2 years. More than half are congenital, located in head and neck in a 30% of the cases. Myofibroma is a benign mesenchymal tumor that appear an isolated lesion or multiple, with or without visceral involvement. Case 1: A newborn girl that presents lump in scalp suspected of encefalocele. Ultrasound and RM: solid and heterogeneous mass 4 x 2 cm with increased peripheral vascularisation. Case 2: A 7-month-old baby boy with lump in right occipital zone detected at 4 months. Ultrasound and RM: injury 1 x 1.5 cm in head esplenio muscle suggestive of hemangioma. RESULTS: After surgical total resection, the histological study and immunohistochemical identified the lesion as myofibroma. The evaluation of disease dissemination was normal and the recovery of the patients was favorable. The differential diagnosis of myofibroma must be carried out with other mesenchymal tumors and with non neoplastic injuries characteristics of the region affects. The visceral location and multiple forms worsen the prognosis, so is important do an exhaustive study. Treatment is conservative surgery, but if there is no risk to the child, the possibility of spontaneous regression makes the abstention therapeutic a correct alternative.


Assuntos
Neoplasias de Cabeça e Pescoço/congênito , Miofibroma/congênito , Couro Cabeludo , Neoplasias Cutâneas/congênito , Feminino , Neoplasias de Cabeça e Pescoço/cirurgia , Humanos , Lactente , Recém-Nascido , Masculino , Miofibroma/cirurgia , Neoplasias Cutâneas/cirurgia
17.
Nutr Metab Cardiovasc Dis ; 20(4): 284-94, 2010 May.
Artigo em Inglês | MEDLINE | ID: mdl-20303720

RESUMO

Olive oil (OO) is the most representative food of the traditional Mediterranean Diet (MedDiet). Increasing evidence suggests that monounsaturated fatty acids (MUFA) as a nutrient, OO as a food, and the MedDiet as a food pattern are associated with a decreased risk of cardiovascular disease, obesity, metabolic syndrome, type 2 diabetes and hypertension. A MedDiet rich in OO and OO per se has been shown to improve cardiovascular risk factors, such as lipid profiles, blood pressure, postprandial hyperlipidemia, endothelial dysfunction, oxidative stress, and antithrombotic profiles. Some of these beneficial effects can be attributed to the OO minor components. Therefore, the definition of the MedDiet should include OO. Phenolic compounds in OO have shown antioxidant and anti-inflammatory properties, prevent lipoperoxidation, induce favorable changes of lipid profile, improve endothelial function, and disclose antithrombotic properties. Observational studies from Mediterranean cohorts have suggested that dietary MUFA may be protective against age-related cognitive decline and Alzheimer's disease. Recent studies consistently support the concept that the OO-rich MedDiet is compatible with healthier aging and increased longevity. In countries where the population adheres to the MedDiet, such as Spain, Greece and Italy, and OO is the principal source of fat, rates of cancer incidence are lower than in northern European countries. Experimental and human cellular studies have provided new evidence on the potential protective effect of OO on cancer. Furthermore, results of case-control and cohort studies suggest that MUFA intake including OO is associated with a reduction in cancer risk (mainly breast, colorectal and prostate cancers).


Assuntos
Dieta Mediterrânea , Saúde , Óleos de Plantas , Envelhecimento/psicologia , Doenças Cardiovasculares/epidemiologia , Doença Crônica , Cognição/fisiologia , Consenso , Diabetes Mellitus/epidemiologia , Expectativa de Vida , Síndrome Metabólica/epidemiologia , Neoplasias/epidemiologia , Obesidade/epidemiologia , Azeite de Oliva , Óleos de Plantas/química , Medição de Risco , Fatores de Risco
18.
Tissue Antigens ; 74(6): 543-4, 2009 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-19843277

RESUMO

Human leukocyte antigen (HLA) class I sequence-based typing (SBT) for hematopoietic unrelated donor searching in a Romanian Caucasian patient showed the presence of a novel HLA-B allele defined as B*0777. HLA-B*0777 has two nucleotides changes at the same codon from B*0707, resulting an amino acid replacement 99Y > 99S.


Assuntos
Alelos , Antígenos HLA-B/genética , Sequência de Aminoácidos , Substituição de Aminoácidos , Sítios de Ligação , Humanos , Dados de Sequência Molecular , Alinhamento de Sequência
19.
Br J Dermatol ; 154(2): 261-6, 2006 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-16433795

RESUMO

BACKGROUND: The association of melanoma with HLA class II loci is under extensive debate. Different investigators have found discrepant results due to, at least in part, sample size, patient series heterogeneity, choice of control population and differences in the techniques employed for the detection of HLA antigens and alleles. OBJECTIVES: This study was designed to analyse the possible association of melanoma with HLA class II loci with regard to different clinic pathological factors and to investigate other risk factors for melanoma susceptibility, such as HLA homozygosity. PATIENTS AND METHODS: HLA-DRB1, -DQA1 and -DQB1 genotyping was performed for 117 eastern Spanish patients presenting with primary melanoma. RESULTS: Although there were no significant alterations in the phenotypic frequencies of HLA-DQA1, -DQB1 or -DRB1 alleles in any subgroup of patients when compared with controls, patients exhibited a statistically significant increase in HLA-DQA1 homozygosity rate. This DQA1 homozygosity-specific association was particularly dependent on some features in melanoma patients such as light hair colour, skin type I or II, early age at diagnosis, absence of atypical naevi, or abscence of atypical naevus syndrome phenotype (aetiological fractions about 10-20%). Analysis of homozygosity for single DQA1 alleles showed an increased homozygosity rate for DQA1*0505 and DQA1*0301 in comparison with controls. These DQA1 alleles are in strong linkage disequilibrium with DQB1*0301 in white populations, and DQB1*0301 homozygous individuals were significantly increased in red in or fair-haired patients (relative risk 5.65). CONCLUSIONS: Our results indicate that the contribution of HLA class II alleles to primary melanoma incidence is not significant in the Spanish population. However, homozygosity for the HLA-DQA1 locus (and, perhaps, for the HLA-DQB1*0301 allele) might be considered a potential risk factor for developing melanoma depending on the person's genetic background and, perhaps, on certain environmental conditions.


Assuntos
Antígenos HLA-DQ/genética , Melanoma/genética , Polimorfismo Genético , Neoplasias Cutâneas/genética , Adulto , Frequência do Gene , Genes MHC da Classe II , Predisposição Genética para Doença , Cadeias alfa de HLA-DQ , Cor de Cabelo , Homozigoto , Humanos , Reação em Cadeia da Polimerase/métodos , Fatores de Risco , Pigmentação da Pele , Espanha
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