A5071483006- Hidradenitis Suppurativa and Treatments
- HIV Research and Treatment
- Colorectal and Anal Carcinomas
- Occupational and environmental lung diseases
- Autoimmune and Inflammatory Disorders
- Immunotherapy and Immune Responses
- Inflammasome and immune disorders
- Mosquito-borne diseases and control
- Diabetes and associated disorders
- HIV/AIDS drug development and treatment
- HIV/AIDS Research and Interventions
- Immune Cell Function and Interaction
- Forensic and Genetic Research
- Insect symbiosis and bacterial influences
- Viral Infections and Vectors
- Interstitial Lung Diseases and Idiopathic Pulmonary Fibrosis
- T-cell and B-cell Immunology
- vaccines and immunoinformatics approaches
- Molecular Biology Techniques and Applications
- Genetic Associations and Epidemiology
- Race, Genetics, and Society
- interferon and immune responses
- Cervical Cancer and HPV Research
- Oral Health Pathology and Treatment
- Dermatological and Skeletal Disorders
IRCCS Materno Infantile Burlo Garofolo
2016-2025
Istituti di Ricovero e Cura a Carattere Scientifico
2021
Universidade Federal de Pernambuco
2012-2020
Instituto de Saúde
2017
Universidade Federal Rural de Pernambuco
2011-2015
Universidade Federal do Ceará
2008
<b><i>Background:</i></b> The genetics of syndromic hidradenitis suppurativa (HS), an immune-mediated condition associated with systemic comorbidities such as inflammatory bowel diseases and arthritis, has not been completely elucidated. <b><i>Objective:</i></b> To describe clinical features genetic signature patients the main HS forms, i.e., PASH, PAPASH, PASH/SAPHO overlapping. <b><i>Methods:</i></b> Whole-exome...
HLA and other genetic variants, playing an important role in innate adaptive immunity, are known to influence tuberculosis (TB) development HIV-1-positive (HIV+) patients. Because inflammasome genes contribute HIV-1 susceptibility, we investigated the possible association between polymorphisms with Mycobacterium coinfection (HIV+TB+) a case/control cohort of Brazilian individuals. Nineteen single-nucleotide polymoprhims 8 (NLRP1, NLRP3, AIM2, CARD8, CASP1, IL1B, IL1R, HSP90) were analyzed...
Abstract Pyoderma gangrenosum (PG) is a rare inflammatory skin disease classified within the spectrum of neutrophilic dermatoses. The pathophysiology PG yet incompletely understood but prominent role genetics facilitating immune dysregulation has been proposed. This study investigated potential contribution disrupted molecular pathways in determining susceptibility and clinical severity PG. Variant Enrichment Analysis, bioinformatic pipeline applicable for Whole Exome Sequencing data was...
Genetic association studies determine how genes influence traits. However, non-detected population substructure may bias the analysis, resulting in spurious results. One method to detect is genotype ancestry informative markers (AIMs) besides candidate variants, quantifying much ancestral populations contribute samples' genetic background. The present study aimed use a minimum quantity of markers, while retaining full potential estimate ancestries. We tested feasibility subset 12 most from...
Malignant pleural mesothelioma (MPM) is an aggressive cancer with poor prognosis. The development of MPM frequently linked to inhalation asbestos fibers. A genetic component susceptibility this disease suggested by the observation that some individuals develop following lower doses exposure, whereas others exposed higher quantities do not seem be affected. This hypothesis supported also frequent reports familial clustering. Despite widely recognized role iron (Fe) in cellular...
The challenge of unravelling the molecular basis multifactorial disorders nowadays cannot rely just on association studies searching for potential causative variants shared by groups patients and not present in healthy individuals; indeed, have as a main limitation lack information interactions between disease-causing variants. Thus, new genomic analysis tools focusing disrupted pathways rather than associated gene are required to better understand complexity disease. Therefore, we developed...
Hidradenitis suppurativa (HS) is a chronic inflammatory skin disease with multifactorial aetiology that involves strict interplay between genetic factors, immune dysregulation and lifestyle. Familial forms represent around 40% of total HS cases show an autosomal dominant mode inheritance the disease. In this study, we conducted whole-exome sequence analysis on Italian family 4 members encompassing vertical transmission HS. Focusing rare damaging variants, identified insertion one nucleotide...
Type 1 diabetes mellitus (T1D) is a complex disorder characterized by an autoimmune response against human pancreatic beta-cells.Patients with T1D can also develop toward one or more other factors, such as in thyroiditis (AITD) and celiac disease (CD).In the presence of + AITD, patient diagnosed polyglandular syndrome type III (APSIII); patients APSIII may present CD.These diseases have strong genetic component share many susceptibility genes, suggesting potentially overlapping pathogenic...
Aims Brazil is nowadays one of the epicentres severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) pandemic and new therapies are needed to face it. In context specific immune response against virus, a correlation between Major Histocompatibility Complex Class I (MHC-I) severity disease in patients with COVID-19 has been suggested. Aiming at better understanding biology infection virus Brazilian population, we analysed SARS-CoV-2 protein S peptides order identify epitopes able elicit...
Interleukin 18 (IL-18) is a cytokine that plays an important role in the Th1 response, by its ability to induce IFN-γ production T cells and natural killer cells. Functional variants of IL18 gene has been reported as associated with type 1 diabetes (T1D). In present study were analyzed three promoter single nucleotide polymorphisms (SNPs), at -656 (rs1946519), -607 (rs1946518) -137 (rs187238) position, 181 children adolescents T1D 122 healthy individuals, both from metropolitan area Recife,...
4609 Background: Although chemoradiation (CRT) is a curable approach to anal carcinoma, 50% of the patients (pts) with LAAC eventually recur. Novel therapeutic strategies are needed for this population. CET monoclonal antibody directed against EGFR, which strongly expressed in carcinoma. Synergy RT resulted improved survival (vs. alone) head and neck cancer. This trial evaluates feasibility tolerability CET/5-FU/CP combined LAAC, maximal tolerated dose as primary endpoint. Methods: Pts...
Introduction With the aim of searching genetic factors associated with response to an immune treatment based on autologous monocyte‐derived dendritic cells pulsed inactivated HIV, we performed exome analysis by screening more than 240,000 putative functional exonic variants in 18 HIV‐positive Brazilian patients that underwent treatment. Methods Exome has been using ILLUMINA Infinium HumanExome BeadChip. zCall algorithm allowed us recall rare variants. Quality control and SNP‐centred were...