Publications by authors named "Ekaterini Goudouris"

It has been 10-years since the publication of Rhinosinusitis: evidence and experience, and since then a lot has changed in our understanding of the disease. Advances in pathophysiology, endotyping and new treatments such as biologics brought a new era in the management of our patients. This new guideline, developed jointly by ABR and ABORL-CCF, with the help of ASBAI presents an updated, evidence-based approach to the different forms of rhinosinusitis that aims to improve the diagnosis and treatment of this complex disease.

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Selective IgM deficiency (SIgMD) has recently been included in the inborn errors of immunity classification. SIgMD has conflicting diagnostic criteria and diverse clinical and immunological findings. We aimed to assess the clinical and laboratory profiles of patients with SIgMD and to compare the data of patients diagnosed using two inclusion criteria.

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Article Synopsis
  • The "V Brazilian Consensus on Rhinitis" is a significant update aimed at improving the understanding and management of rhinitis, focusing on evidence-based practices.
  • * It includes detailed information on rhinitis phenotypes, diagnostic criteria, treatment customization based on symptoms and comorbidities, and the importance of thorough clinical evaluation.
  • * The guideline also emphasizes patient education and addresses specific populations such as children, pregnant women, and the elderly to enhance overall quality of life for those affected by rhinitis.
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The use of allergen immunotherapy (AIT) in Brazil has specific regional conditions owing to the pattern of allergen sensitization, as well as to genetic, socioeconomic, and cultural characteristics. This review article aims to discuss the clinical practice of AIT by the subcutaneous or sublingual route in Brazil, addressing the possibilities of transition between these forms of administration. A systematic review using the PubMed and Cochrane databases was performed, and the websites of major allergy and immunology organizations were consulted.

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  • Ataxia-telangiectasia (AT) is a rare genetic disorder causing neurological issues, blood vessel irregularities, and a weakened immune system, particularly noted in Latin American patients.
  • A study involving 218 patients revealed that the average age for symptoms and diagnosis is about 1 year and 5 years, respectively, with common recurrent airway infections linked to IgA deficiency.
  • The study found a mean survival of 24.2 years, with a 20-year survival rate of 52.6%, and higher mortality rates in females and those with low IgG levels, highlighting the importance of assessing immune function in AT patients.
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Introduction: Atopic dermatitis (AD) is a chronic and relapsing inflammatory skin disease mainly affecting children. Similarly, Allergic contact dermatitis (ACD) is an inflammatory skin disease, but unlike AD it results from direct exposure to an external agent. Theoretically, the impaired skin barrier facilitates the penetration of potential allergens.

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Article Synopsis
  • The CDC and ACIP endorse COVID-19 vaccination for patients with inborn errors of immunity (IEI), but there's limited knowledge on its safety and impact on infection severity in these patients.
  • A study involving a registry of 1,245 IEI patients across 24 countries was conducted to gather data on vaccination frequency, safety, and effectiveness, revealing that 64.7% were vaccinated, primarily with mRNA vaccines.
  • Results showed that vaccinated patients had significantly lower hospitalization and ICU admission rates when infected with COVID-19, indicating that vaccination is both safe and effective in reducing the severity of the disease in IEI patients.
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Background: Atopic dermatitis (AD) patients have high rates of colonization by Staphylococcus aureus, which has been associated with worsening of the disease. This study characterized Staphylococcus spp isolates recovered from nares and feces of pediatric patients with AD in relation to antimicrobial susceptibility, staphylococcal cassette chromosome mec (SCCmec) type, presence of pvl genes and clonality. Besides, gut bacterial community profiles were compared with those of children without AD.

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Article Synopsis
  • Inherited genetic defects in immune system-related genes can lead to Inborn Errors of Immunity (IEI), which are challenging to diagnose due to overlapping symptoms, making accurate identification of genetic variants essential for effective treatment and counseling.
  • This study conducted genetic screening on 13 patients from Brazil's public health system to find associations between genetic variants and patient characteristics, using whole exome sequencing (WES) and a computational framework for analysis.
  • The results identified 16 disease-causing variants across nine genes in six different IEI categories, with X-Linked Agammaglobulinemia as the most common disorder in the group.
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Objectives: Inborn error of immunity (IEI) comprises a broad group of inherited immunological disorders that usually display an overlap in many clinical manifestations challenging their diagnosis. The identification of disease-causing variants from whole-exome sequencing (WES) data comprises the gold-standard approach to ascertain IEI diagnosis. The efforts to increase the availability of clinically relevant genomic data for these disorders constitute an important improvement in the study of rare genetic disorders.

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Background: Atopic dermatitis (AD) primarily affects the pediatric population, which is highly colonized by S. aureus. However, little is known about the genetic features of this microorganism and other staphylococcal species that colonize AD patients.

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Objectives: Since the beginning of its use for the prevention of tuberculosis (TB) in 1921, other uses of BCG (Bacillus Calmette-Guérin) have been proposed, particularly in the treatment of malignant solid tumors, multiple sclerosis, and other autoimmune diseases. Its beneficial impact on other infections, by nontuberculous mycobacteria, and by viruses, has been more often studied in recent years, especially after the introduction of the concept of trained immunity. The present study's objective was to review the possible indications of BCG and the immunological rationale for these indications.

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Background: X-linked agammaglobulinemia (XLA) is an Inborn Errors of Immunity (IEI) characterized by pan-hypogammaglobulinemia and low numbers of B lymphocytes due to mutations in BTK gene. Usually, XLA patients are not susceptible to respiratory tract infections by viruses and do not present interstitial lung disease (ILD) such as bronchiolitis obliterans (BO) as a consequence of acute or chronic bacterial infections of the respiratory tract. Although many pathogenic variants have already been described in XLA, the heterogeneous clinical presentations in affected patients suggest a more complex genetic landscape underlying this disorder.

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  • Acquired deficiency of C1 inhibitor (AAE-C1-INH) is a rare cause of recurrent angioedema, with this study focusing on cases from Brazilian reference centers to better understand its characteristics.
  • A total of 14 patients were analyzed, mostly female, with an average symptom onset age of 56.5 years, and a median diagnostic delay of 2 years; the primary symptoms were skin-related.
  • Most patients had abnormal levels of C4 and C1-INH, and many needed long-term treatment; ultimately, 85.7% found resolution of their angioedema issues with appropriate therapy.
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Article Synopsis
  • * Researchers analyzed data from 50 patients, noting a median age of 7 months at disease onset and significant delays in diagnosis, along with discovering 6 new mutations in the CD40LG gene.
  • * Common symptoms included pneumonia, respiratory infections, and various gastrointestinal issues, with the study documenting the largest number of infectious agents associated with this condition, enhancing insights for diagnosis and management.
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Objective: To review, critically analyze and synthesize knowledge from the international literature regarding the association between allergic rhinitis (AR) and sleep disorders, the impact of AR treatment on children's sleep, and lay the foundation for future research on this topic.

Source Of Data: A literature search using PubMed database including original and review articles, systematic reviews and meta-analyses using keywords related to AR, sleep disorders and sleep-disordered breathing.

Synthesis Of Data: Sleep is fundamental to health, and its assessment and control of conditions that trigger or aggravate disturbances are of the uttermost importance.

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The Phadiatop Infant (PhInf) is a panel developed to assess allergic sensitization (immunoglobulin E [IgE]) in children aged <5 years and combines inhalant and food allergens. The test has not been evaluated outside Europe. This is a cross-sectional study conducted at 11 pediatric allergy centers to evaluate PhInf as an allergic disease screening method in Brazilian children.

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Coronavirus disease 2019 (COVID-19) is a clinical syndrome caused by the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) virus. Patients can be asymptomatic or present respiratory and gastrointestinal symptoms, and even multiple-organ failure which can lead to death. The balance between an effective antiviral response and dysregulated immune response is the key factor determining the severity of COVID-19 progression.

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Article Synopsis
  • - This study aimed to investigate the effects of SARS-CoV-2 infection on Brazilian patients with Inborn Errors of Immunity (IEI), focusing on their clinical outcomes and factors influencing the infection.
  • - In a multicenter study of 121 patients, the majority experienced mild or asymptomatic cases, with serious outcomes primarily linked to older age and specific comorbidities (like bronchiectasis and cardiopathy) rather than the type of IEI itself.
  • - Despite most infections being mild, the case fatality rate for these patients was higher than the general population, highlighting the need for targeted care in individuals with IEI.
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In the COVID-19 era, while we are encouraged to be physically far away from each other, social and scientific networking is needed more than ever. The dire consequences of social distancing can be diminished by social networking. Social media, a quintessential component of social networking, facilitates the dissemination of reliable information and fighting against misinformation by health authorities.

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Yellow fever virus (YFV) live attenuated vaccine can, in rare cases, cause life-threatening disease, typically in patients with no previous history of severe viral illness. Autosomal recessive (AR) complete IFNAR1 deficiency was reported in one 12-yr-old patient. Here, we studied seven other previously healthy patients aged 13 to 80 yr with unexplained life-threatening YFV vaccine-associated disease.

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Objectives: Inborn Errors of Immunity are characterized by infectious conditions and manifestations of immune dysregulation. The diversity of clinical phenotypes can make it difficult to direct the laboratory investigation. This article aims to update the investigation of immunological competence in the context of primary defects of the immune system.

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