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1.
World Allergy Organ J ; 17(3): 100876, 2024 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-38361745

RESUMEN

There is a lack of consensus over the description and severity assignment of allergic adverse reactions to immunotherapy, although there seems to be a consensus at least in terms of using the World Allergy Organization (WAO) grading systems to describe local adverse events for Sublingual Immunotherapy (SLIT) and Systemic Allergic Reactions (SARs) to Subcutaneous Immunotherapy (SCIT) amongst the major national/regional allergy societies. In this manuscript, we propose a modification of the previous WAO Grading system for SARs, which aligns with the newly-proposed Consortium for Food Allergy Research (CoFAR) Grading Scale for Systemic Allergic Reactions in Food Allergy (version 3.0). We hope this can facilitate a unified grading system appropriate to SARs due to allergen immunotherapy, independent of allergen and route of administration, and across clinical and research practice.

2.
Lancet ; 403(10422): 147-159, 2024 Jan 13.
Artículo en Inglés | MEDLINE | ID: mdl-38008109

RESUMEN

BACKGROUND: Many patients with chronic spontaneous urticaria (CSU) do not achieve complete control of their symptoms with current available treatments. In a dose-finding phase 2b study, ligelizumab improved urticaria symptoms in patients with H1-antihistamine (H1-AH) refractory CSU. Here, we report the efficacy and safety outcomes from two ligelizumab phase 3 studies. METHODS: PEARL-1 and PEARL-2 were identically designed randomised, double-blind, active-controlled and placebo-controlled parallel-group studies. Patients aged 12 years or older with moderate-to-severe H1-AH refractory CSU were recruited from 347 sites in 46 countries and randomly allocated in a 3:3:3:1 ratio via Interactive Response Technology to 72 mg ligelizumab, 120 mg ligelizumab, 300 mg omalizumab, or placebo, dosed every 4 weeks, for 52 weeks. Patients allocated to placebo received 120 mg ligelizumab from week 24. The primary endpoint was change-from-baseline (CFB) in weekly Urticaria Activity Score (UAS7) at week 12, and was analysed in all eligible adult patients according to the treatment assigned at random allocation. Safety was assessed throughout the study in all patients who received at least one dose of the study drug. The studies were registered with ClinicalTrials.gov, NCT03580369 (PEARL-1) and NCT03580356 (PEARL-2). Both trials are now complete. FINDINGS: Between Oct 17, 2018, and Oct 26, 2021, 2057 adult patients were randomly allocated across both studies (72 mg ligelizumab n=614; 120 mg ligelizumab n=616; 300 mg omalizumab n=618, and placebo n=209). A total of 1480 (72%) of 2057 were female, and 577 (28%) of 2057 were male. Mean UAS7 at baseline across study groups ranged from 29·37 to 31·10. At week 12, estimated treatment differences in mean CFB-UAS7 were as follows: for 72 mg ligelizumab versus placebo, -8·0 (95% CI -10·6 to -5·4; PEARL-1), -10·0 (-12·6 to -7·4; PEARL-2); 72 mg ligelizumab versus omalizumab 0·7 (-1·2 to 2·5; PEARL-1), 0·4 (-1·4 to 2·2; PEARL-2); 120 mg ligelizumab versus placebo -8·0 (-10·5 to -5·4; PEARL-1), -11·1 (-13·7 to -8·5; PEARL-2); 120 mg ligelizumab versus omalizumab 0·7 (-1·1 to 2·5; PEARL-1), -0·7 (-2·5 to 1·1; PEARL-2). Both doses of ligelizumab were superior to placebo (p<0·0001), but not to omalizumab, in both studies. No new safety signals were identified for ligelizumab or omalizumab. INTERPRETATION: In the phase 3 PEARL studies, ligelizumab demonstrated superior efficacy versus placebo but not versus omalizumab. The safety profile of ligelizumab was consistent with previous studies. FUNDING: Novartis Pharma.


Asunto(s)
Antialérgicos , Anticuerpos Monoclonales Humanizados , Urticaria Crónica , Urticaria , Adolescente , Adulto , Femenino , Humanos , Masculino , Antialérgicos/efectos adversos , Enfermedad Crónica , Urticaria Crónica/tratamiento farmacológico , Método Doble Ciego , Antagonistas de los Receptores Histamínicos H1/uso terapéutico , Omalizumab/efectos adversos , Ensayos Clínicos Controlados Aleatorios como Asunto , Resultado del Tratamiento , Urticaria/tratamiento farmacológico
3.
Allergy Asthma Clin Immunol ; 19(1): 80, 2023 Sep 08.
Artículo en Inglés | MEDLINE | ID: mdl-37684679

RESUMEN

BACKGROUND: The prevalence of eosinophilic asthma in Lebanon, one of the most severe phenotypes among severe asthma, is not known. This study aimed at determining the prevalence of the eosinophilic phenotype defined as an eosinophil count ≥ 300 cells/mm3 among severe asthma patients in Lebanon. METHODS: The Lebanese Chapter of the PREPARE study was a national, multicenter, cross-sectional observational study. Patients aged ≥ 12 years with severe asthma were identified and prospectively enrolled during clinic visits and completed the Global Initiative for Asthma (GINA) assessment of asthma control questionnaire. Patients' health characteristics were collected from medical records and blood samples were obtained for measurement of serum IgE levels and blood eosinophils count. RESULTS: Overall, 101 patients (with mean age of 46.3 ± 17.0 years and 73.27% females) with severe asthma were included and, among them, 37% had eosinophilic phenotype, 67.3% had atopic phenotype with IgE > 100 IU/mL and 25.7% patients had overlapping atopic and eosinophilic phenotypes. Close to 80% had late-onset asthma, beyond 12 years of age, and around 85% had at least one severe exacerbation in the 12 months prior to study enrolment. The majority of participants [64.4%] had uncontrolled asthma, 24.7% had partially controlled symptoms and 10.9% had controlled symptoms. 19.8% of participants were on chronic oral corticosteroids, 78.2% had short course treatment of corticosteroids and all were prescribed a combination of inhaled corticosteroids and long-acting beta-agonist. CONCLUSIONS: The majority of patients with severe asthma were uncontrolled of which 37% present with an eosinophilic phenotype, which should be taken into consideration for better management of these patients in view of the novel phenotype-specific therapeutic options.

4.
World Allergy Organ J ; 16(1): 100729, 2023 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-36601261

RESUMEN

Background: Hereditary angioedema (HAE), a potentially life-threatening genetic disorder due to C1 inhibitor deficiency in most cases, is characterized by sudden and/or recurrent attacks of angioedema (subcutaneous/submucosal swellings). The global World Allergy Organization (WAO)/European Academy of Allergy and Clinical Immunology (EAACI) International guideline for HAE management is comprehensive, but the implementation of this guideline may require regional adaptation considering the diversity in disease awareness, type of medical care systems, and access to diagnostics and treatment. The aim of this Delphi initiative was to build on the global guideline and provide regional adaptation to address the concerns and specific needs in the Middle East. Methods: The Consensus panel comprised 13 experts from the Middle East (3 from the United Arab Emirates, 3 from Saudi Arabia, 2 from Lebanon, 2 from Kuwait, 2 from Oman and 1 from Qatar) who have more than 2 decades of experience in allergy and immunology and are actively involved in managing HAE patients. The process that was carried out to reach the consensus recommendation included: 1.) A systematic literature review for articles related to HAE management using Ovid MEDLINE. 2.) The development of a questionnaire by an internationally acclaimed expert, with 10 questions specific to HAE management in the Middle East. 3.) Experts received the questionnaire via email individually and their answers were recorded (email/interview). 4.) A virtual consensus meeting was organized to discuss the questionnaire, make amends if needed, vote, and achieve consensus. Results: The questionnaire comprised 10 questions, each with 2 or more statements/recommendations on which the regional experts voted. A consensus was reached based on a 70% agreement between the participants. The key highlights include: 1) HAE experts in the Middle East emphasized the importance of a positive family history for arriving at a diagnosis of HAE. 2) The number of episodes per month or per 6-month period and severity should be used, together with other markers, to determine the need for prophylaxis. 3) Disease status should be monitored by periodic visits and the use of patient-reported outcome measures such as the angioedema activity score and the angioedema control test. 4) Attenuated androgens and tranexamic acid may be considered for long-term prophylaxis, if lanadelumab, C1-Inhibitor or berotralstat are not available. Conclusion: This consensus recommendation may help to educate healthcare practitioners in the Middle East and unify their approach to the diagnosis and management of HAE.

5.
Acta Derm Venereol ; 103: adv00865, 2023 Feb 14.
Artículo en Inglés | MEDLINE | ID: mdl-36129251

RESUMEN

Chronic urticaria is a debilitating disease that affects health-related quality of life, but few studies have evaluated its impact on psychological wellbeing. The aim of this study was to evaluate the quality of life of patients with chronic urticaria and determine its impact on their emotional and psychological wellbeing. A cross-sectional multicentre study of a cluster of 264 Lebanese patients visiting dermatology/immunology clinics was conducted between July 2018 and June 2020. The impact of chronic urticaria on quality of life was assessed using the Chronic Urticaria Quality of Life Questionnaire (CU-Q2oL) and Dermatology Life Quality Index (DLQI), as well as its consequences on mood changes using the Patient Health Questionnaire-9 (PHQ-9) and Beirut Distress Score 22 (BDS-22) scores. A multivariable analysis of covariates was performed to determine the effect of the triggering factors of urticaria on both CU-Q2oL and PHQ-9. A moderate negative correlation was found between Urticaria Control Test and quality of life scores as well as PHQ-9 and BDS-22 (p < 0.001). Patients with the lowest Urticaria Control Test score had the highest impairment in quality of life and depression scores. In conclusion, chronic urticaria compromises patients' quality of life and emotional wellbeing. This distress is more pronounced when the disease is more severe.


Asunto(s)
Urticaria Crónica , Distrés Psicológico , Urticaria , Humanos , Estudios Transversales , Calidad de Vida/psicología , Enfermedad Crónica , Reproducibilidad de los Resultados , Urticaria Crónica/diagnóstico , Urticaria/diagnóstico , Urticaria/complicaciones , Encuestas y Cuestionarios
6.
World Allergy Organ J ; 15(7): 100661, 2022 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-35784945

RESUMEN

Patient care in the allergy and respiratory fields is advancing rapidly, offering the possibility of the inclusion of a variety of digital tools that aim to improve outcomes of care. Impaired access to several health care facilities during the COVID-19 pandemic has considerably increased the appetite and need for the inclusion of e-health tools amongst end-users. Consequently, a multitude of different e-health tools have been launched worldwide with various registration and access options, and with a wide range of offered benefits. From the perspective of both patients and healthcare providers (HCPs), as well as from a legal and device-related perspective, several features are important for the acceptance, effectiveness,and long-term use of e-health tools. Patients and physicians have different needs and expectations of how digital tools might be of help in the care pathway. There is a need for standardization by defining quality assurance criteria. Therefore, the Upper Airway Diseases Committee of the World Allergy Organization (WAO) has taken the initiative to define and propose criteria for quality, appeal, and applicability of e-health tools in the allergy and respiratory care fields from a patient, clinician, and academic perspective with the ultimate aim to improve patient health and outcomes of care.

7.
World Allergy Organ J ; 15(6): 100657, 2022 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-35783543

RESUMEN

Background: Allergies have long been observed in Inborn Errors of Immunity (IEI) and might even be the first presentation resulting in delayed diagnosis or misdiagnosis in some cases. However, data on the prevalence of allergic diseases among IEI patients are limited and contradictory. Objective: To provide a worldwide view of allergic diseases, across a broad spectrum of IEI, and their impact on the timely diagnosis of IEI. Methods: This is a worldwide study, conceived by the World Allergy Organization (WAO) Inborn Errors of Immunity Committee. A questionnaire was developed and pilot-tested and was sent via email to collect data from 61 immunology centers known to treat pediatric and/or adult IEI patients in 41 countries. In addition, a query was submitted to The United States Immunodeficiency Network (USIDNET) at its website. Results: Thirty centers in 23 countries caring for a total 8450 IEI patients responded. The USIDNET dataset included 2332 patients. Data from responders showed that a median (IQR) of 16.3% (10-28.8%) of patients experienced allergic diseases during the course of their IEI as follows: 3.6% (1.3-11.3%) had bronchial asthma, 3.6% (1.9-9.1%) atopic dermatitis, 3.0% (1.0-7.8%) allergic rhinitis, and 1.3% (0.5-3.3%) food allergy. As per the USIDNET data, the frequency of allergy among IEI patients was 68.8% (bronchial asthma in 46.9%). The percentage of IEI patients who presented initially with allergic disorders was 8% (5-25%) and diagnosis delay was reported in 7.5% (0.9-20.6%). Predominantly antibody deficiencies had the highest frequency of allergic disease followed by combined immunodeficiency with a frequency of 40.3% (19.2-62.5%) and 20.0% (10-32%) respectively. As per the data of centers, anaphylaxis occurred in 25/8450 patients (0.3%) whereas per USIDNET dataset, it occurred in 249/2332 (10.6%); drugs and food allergy were the main causes in both datasets. Conclusions: This multinational study brings to focus the relation between allergic diseases and IEI. Major allergies do occur in IEI patients but were less frequent than the general population. Initial presentation with allergy could adversely affect the timely diagnosis of IEI. There is a need for policies to raise awareness and educate primary care and other referring specialties on the association of allergic diseases with IEI. This study provides a network among centers for future prospective studies in the field.

8.
Int Arch Allergy Immunol ; 183(6): 611-616, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-35016177

RESUMEN

INTRODUCTION: Food allergy (FA) is a global health problem with an ongoing rise in prevalence, especially in developed countries. It has been reported to be most prevalent in children, although cases in adults have been increasing as well. FA may lead to life-threatening clinical manifestations. Data in Lebanon and the Middle East are limited. To our knowledge, few studies tackled its prevalence in children in this region. AIM: This study aims at determining self-reported prevalence of FA in schoolchildren (ages 3-17 years) in Lebanon and describes its characteristics. METHOD: Throughout this cross-sectional study, 5 schools from 3 different governorates in Lebanon (Beirut, Mt. Lebanon, and Beqaa) were contacted to participate and 5,312 questionnaires were sent out to be completed by the parents and sent back to the school during May 2019. RESULTS: 2,610 questionnaires were collected (49.13%). A hundred and forty-eight (6%) children reported to have FA, 58% were males. 80% of them were breastfed, 51% were diagnosed between the ages of 2 and 14 years. Common allergens included cow's milk and milk products (22.46%), fruits and vegetables (16.58%), eggs (8.02%), and nuts (5.88%). Allergic symptoms included skin reactions (45.08%), gastrointestinal (GI) symptoms (29.53%), respiratory symptoms (14.51%), and systemic symptoms (10.88%). 82% of the population with FA has sought professional advice, out of which 54% were confirmed by a physician. Common methods of diagnosis were IgE test (35.71%), food elimination (27.92%), and skin prick test (18.83%). χ2 analysis has shown that a higher percentage of children with FA had skin reactions (58.8%, p = 0.033) and GI symptoms (30.41%, p = 0.047). A higher percentage of children with allergies were breastfed. No relation between the presence of FA and delivery mode was observed. CONCLUSION: This study has shown that the self-reported prevalence of FA among Lebanese schoolchildren is 6%, and it was correlated with skin and GI symptoms. The most common allergen was cow's milk. A higher proportion of children with FA were breastfed. No association between the mode of delivery and FA was found. Larger studies are needed to confirm the above findings.


Asunto(s)
Hipersensibilidad a los Alimentos , Hipersensibilidad a la Leche , Alérgenos , Animales , Bovinos , Niño , Estudios Transversales , Femenino , Hipersensibilidad a los Alimentos/diagnóstico , Hipersensibilidad a los Alimentos/epidemiología , Humanos , Inmunoglobulina E , Líbano/epidemiología , Masculino , Hipersensibilidad a la Leche/diagnóstico , Prevalencia , Pruebas Cutáneas
9.
J Clin Immunol ; 41(6): 1339-1351, 2021 08.
Artículo en Inglés | MEDLINE | ID: mdl-34052995

RESUMEN

BACKGROUND: Inborn errors of immunity (IEIs) are a heterogeneous group of genetic defects of immunity, which cause high rates of morbidity and mortality mainly among children due to infectious and non-infectious complications. The IEI burden has been critically underestimated in countries from middle- and low-income regions and the majority of patients with IEI in these regions lack a molecular diagnosis. METHODS: We analyzed the clinical, immunologic, and genetic data of IEI patients from 22 countries in the Middle East and North Africa (MENA) region. The data was collected from national registries and diverse databases such as the Asian Pacific Society for Immunodeficiencies (APSID) registry, African Society for Immunodeficiencies (ASID) registry, Jeffrey Modell Foundation (JMF) registry, J Project centers, and International Consortium on Immune Deficiency (ICID) centers. RESULTS: We identified 17,120 patients with IEI, among which females represented 39.4%. Parental consanguinity was present in 60.5% of cases and 27.3% of the patients were from families with a confirmed previous family history of IEI. The median age of patients at the onset of disease was 36 months and the median delay in diagnosis was 41 months. The rate of registered IEI patients ranges between 0.02 and 7.58 per 100,000 population, and the lowest rates were in countries with the highest rates of disability-adjusted life years (DALY) and death rates for children. Predominantly antibody deficiencies were the most frequent IEI entities diagnosed in 41.2% of the cohort. Among 5871 patients genetically evaluated, the diagnostic yield was 83% with the majority (65.2%) having autosomal recessive defects. The mortality rate was the highest in patients with non-syndromic combined immunodeficiency (51.7%, median age: 3.5 years) and particularly in patients with mutations in specific genes associated with this phenotype (RFXANK, RAG1, and IL2RG). CONCLUSIONS: This comprehensive registry highlights the importance of a detailed investigation of IEI patients in the MENA region. The high yield of genetic diagnosis of IEI in this region has important implications for prevention, prognosis, treatment, and resource allocation.


Asunto(s)
Enfermedades Genéticas Congénitas/epidemiología , Enfermedades de Inmunodeficiencia Primaria/epidemiología , Adolescente , Adulto , África del Norte/epidemiología , Anciano , Niño , Consenso , Años de Vida Ajustados por Discapacidad , Femenino , Humanos , Masculino , Persona de Mediana Edad , Medio Oriente/epidemiología , Sistema de Registros , Adulto Joven
10.
Allergy ; 76(4): 1041-1052, 2021 04.
Artículo en Inglés | MEDLINE | ID: mdl-32869882

RESUMEN

The introduction of personalized medicine (PM) has been a milestone in the history of medical therapy, because it has revolutionized the previous approach of treating the disease with that of treating the patient. It is known today that diseases can occur in different genetic variants, making specific treatments of proven efficacy necessary for a given endotype. Allergic diseases are particularly suitable for PM, because they meet the therapeutic success requirements, including a known molecular mechanism of the disease, a diagnostic tool for such disease, and a treatment blocking the mechanism. The stakes of PM in allergic patients are molecular diagnostics, to detect specific IgE to single-allergen molecules and to distinguish the causative molecules from those merely cross-reactive, pursuit of patient's treatable traits addressing genetic, phenotypic, and psychosocial features, and omics, such as proteomics, epi-genomics, metabolomics, and breathomics, to forecast patient's responsiveness to therapies, to detect biomarker and mediators, and to verify the disease control. This new approach has already improved the precision of allergy diagnosis and is likely to significantly increase, through the higher performance achieved with the personalized treatment, the effectiveness of allergen immunotherapy by enhancing its already known and unique characteristics of treatment that acts on the causes.


Asunto(s)
Hipersensibilidad , Medicina de Precisión , Alérgenos , Desensibilización Inmunológica , Genómica , Humanos , Hipersensibilidad/diagnóstico , Hipersensibilidad/terapia
12.
World Allergy Organ J ; 13(10): 100467, 2020 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-33042360

RESUMEN

Air pollution causes significant morbidity and mortality in patients with inflammatory airway diseases (IAD) such as allergic rhinitis (AR), chronic rhinosinusitis (CRS), asthma, and chronic obstructive pulmonary disease (COPD). Oxidative stress in patients with IAD can induce eosinophilic inflammation in the airways, augment atopic allergic sensitization, and increase susceptibility to infection. We reviewed emerging data depicting the involvement of oxidative stress in IAD patients. We evaluated biomarkers, outcome measures and immunopathological alterations across the airway mucosal barrier following exposure, particularly when accentuated by an infectious insult.

13.
Int J Dermatol ; 59(8): 893-901, 2020 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-32638368

RESUMEN

BACKGROUND: The international guideline for urticaria recommends the use of the Urticaria Activity Score 7 (UAS7) and the Chronic Urticaria Quality of Life Questionnaire (CU-Q2oL) to assess patients with chronic spontaneous urticaria (CSU) for their disease activity and impact on quality of life, respectively. Over the last decade, both tools have been validated in many different languages but not in Arabic. OBJECTIVE: To validate the Arabic UAS7 and CU-Q2oL in patients with CSU in Lebanon. METHODS: After a structured translation process of both instruments into Arabic, their construct and known-groups validity as well as internal consistency reliability were tested in a longitudinal prospective study using a cluster sample of 152 Lebanese CSU patients. The study also included a repetitive administration of both instruments in 2-week intervals in 44 patients in order to assess their test-retest reliability. RESULTS: Both the Arabic UAS7 and CU-Q2oL demonstrated high internal consistency (Cronbach alpha of 0.95 and 0.82, respectively) and moderate-to-high test-retest reliability (intraclass coefficient of 0.61 and 0.91, respectively). Exploratory factor analysis of the Arabic CU-Q2oL revealed five components that explained 81.8% of the total variance. Significant correlations were found between the Arabic CU-Q2oL and the Dermatology Life Quality Index (DLQI) (r = 0.86) and mild-to-moderate correlations between the Arabic UAS7 and CU-Q2oL (r = 0.52) as well as the DLQI (r = 0.51). CONCLUSIONS: Our findings demonstrate that the Arabic versions of the UAS7 and the CU-Q2oL are valid and reliable patient-reported outcome measures in patients with CSU in Lebanon.


Asunto(s)
Urticaria Crónica , Urticaria , Enfermedad Crónica , Humanos , Lenguaje , Líbano , Estudios Prospectivos , Calidad de Vida , Reproducibilidad de los Resultados , Encuestas y Cuestionarios , Urticaria/diagnóstico
14.
Int J Oral Maxillofac Implants ; 35(3): 639-644, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-32406664

RESUMEN

Titanium remains the material of choice in the manufacturing of dental implants because of its exceptional biologic and mechanical properties. However, cases of allergy to titanium have been reported in the literature causing skin, mucosal reactions, systemic symptoms, and eventually implant exfoliation. Although the frequency of these cases varied between 0.6% and 5%, undiagnosed or misdiagnosed cases may possibly increase this percentage significantly. Epicutaneous, intradermal inoculation of the allergen or blood tests (LTT, MELISA, IL1ß, IL-6, TNF-α, IL-10) have been used with various degrees of sensitivity and specificity to assess Ti allergy. This case report demonstrated that titanium dental implant allergy caused rapid implant loss following an acute inflammatory reaction and its successful replacement by a one-piece zirconium implant.


Asunto(s)
Implantes Dentales , Hipersensibilidad , Humanos , Titanio , Circonio
15.
J Allergy Clin Immunol ; 145(6): 1664-1672.e10, 2020 06.
Artículo en Inglés | MEDLINE | ID: mdl-31945408

RESUMEN

BACKGROUND: Deficiency of adenosine deaminase 2 (DADA2) is a syndrome with pleiotropic manifestations including vasculitis and hematologic compromise. A systematic definition of the relationship between adenosine deaminase 2 (ADA2) mutations and clinical phenotype remains unavailable. OBJECTIVE: We sought to test whether the impact of ADA2 mutations on enzyme function correlates with clinical presentation. METHODS: Patients with DADA2 with severe hematologic manifestations were compared with vasculitis-predominant patients. Enzymatic activity was assessed using expression constructs reflecting all 53 missense, nonsense, insertion, and deletion genotypes from 152 patients across the DADA2 spectrum. RESULTS: We identified patients with DADA2 presenting with pure red cell aplasia (n = 5) or bone marrow failure (BMF, n = 10) syndrome. Most patients did not exhibit features of vasculitis. Recurrent infection, hepatosplenomegaly, and gingivitis were common in patients with BMF, of whom half died from infection. Unlike patients with DADA2 with vasculitis, patients with pure red cell aplasia and BMF proved largely refractory to TNF inhibitors. ADA2 variants associated with vasculitis predominantly reflected missense mutations with at least 3% residual enzymatic activity. In contrast, pure red cell aplasia and BMF were associated with missense mutations with minimal residual enzyme activity, nonsense variants, and insertions/deletions resulting in complete loss of function. CONCLUSIONS: Functional interrogation of ADA2 mutations reveals an association of subtotal function loss with vasculitis, typically responsive to TNF blockade, whereas more extensive loss is observed in hematologic disease, which may be refractory to treatment. These findings establish a genotype-phenotype spectrum in DADA2.


Asunto(s)
Adenosina Desaminasa/deficiencia , Adenosina Desaminasa/genética , Péptidos y Proteínas de Señalización Intercelular/deficiencia , Péptidos y Proteínas de Señalización Intercelular/genética , Trastornos de Fallo de la Médula Ósea/genética , Niño , Preescolar , Femenino , Genotipo , Humanos , Lactante , Masculino , Mutación/genética , Fenotipo , Aplasia Pura de Células Rojas/genética , Vasculitis/genética
17.
BMC Public Health ; 19(1): 769, 2019 Jun 17.
Artículo en Inglés | MEDLINE | ID: mdl-31208379

RESUMEN

BACKGROUND: Studies exploring the association between weight and asthma are not conclusive. Both obesity and asthma have been increasing in Lebanon, their association is not yet documented. The aim of this study is to explore the effect of weight on asthma control in adults. METHODS: This is a cross-sectional study, involving all consecutive asthma patients presenting to the outpatient allergy clinic at the Hotel-Dieu de France (HDF) University Hospital between January 1, 2014 and December 30, 2016. Patients included were those who consented to fill the Asthma Control Test (ACT) after 3 months of therapy. BMI was reported at the same time of the questionnaire. RESULTS: A total of 183 records of diagnosed asthma cases in adults were included. Sixty-three (34.4%) were males and 120 (65.6%) females, with a mean age of 38.5 (SD = 14.3). Ninety patients (49.2%) were of normal weight, 65 (35.5%) overweight and 28 (15.3%) obese. Seventy-one percent had an ACT score ≤ 19, which corresponds to poor asthma control. Patients who were overweight or obese were more likely to have poor asthma control compared to patients who had a normal weight at the time of evaluation. CONCLUSION: In conclusion, our study showed a significant association between asthma control as assessed by the ACT and high BMI defining overweight or obesity. This is the first national study exploring the association between asthma and overweight/obesity in Lebanon. A larger study with sampling from different specialists' sites is needed to draw more conclusions about this association.


Asunto(s)
Asma/prevención & control , Obesidad/epidemiología , Sobrepeso/epidemiología , Adolescente , Adulto , Asma/epidemiología , Índice de Masa Corporal , Comorbilidad , Estudios Transversales , Femenino , Humanos , Líbano/epidemiología , Masculino , Persona de Mediana Edad , Encuestas y Cuestionarios , Adulto Joven
19.
Int Ophthalmol ; 38(5): 2041-2051, 2018 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-28831678

RESUMEN

PURPOSE: To describe the profile of patients with allergic conjunctivitis (AC) regarding their demographics, symptomatology and specific allergen sensitization, in a Lebanese tertiary hospital. METHODS: Cross-sectional study conducted at the Hôtel-Dieu de France hospital (Beirut, Lebanon) during a period of 18 months. Patients with seasonal or perennial AC presenting for ophthalmic consultation had measurements of total and specific IgE. A matching group of patients with AC seen at the allergist office during the same period underwent skin prick tests (SPTs). RESULTS: Forty-four patients were enrolled for blood work by their ophthalmologists. Seasonal and perennial forms were almost equivalent. In total, 56.8% had positive specific IgE, with higher prevalence in patients with seasonal AC (p = 0.002), other associated allergies particularly allergic rhinitis (p = 0.002) or a family history of allergy (p = 0.005). Ocular surface severity scales were not shown as predictors. High levels of total IgE were commonly detected in those with positive specific IgE. Thirty-eight patients were assessed with SPT, and all had a positive result for at least one allergen. Dust mites were found to be the most frequent allergens based upon both specific IgE (72%) and SPT (92%), followed by Parietaria and other pollens. CONCLUSION: In our study, dust mites mono- or co-sensitization is present in the majority of patients with AC, with odds of positivity being higher using SPT than specific IgE. The latter are found more readily in seasonal AC and in the presence of personal and family history of allergy.


Asunto(s)
Alérgenos/inmunología , Conjuntivitis Alérgica/diagnóstico , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Niño , Preescolar , Conjuntivitis Alérgica/epidemiología , Conjuntivitis Alérgica/inmunología , Estudios Transversales , Femenino , Estudios de Seguimiento , Humanos , Inmunoglobulina E/inmunología , Incidencia , Líbano/epidemiología , Masculino , Persona de Mediana Edad , Estudios Retrospectivos , Pruebas Cutáneas , Adulto Joven
20.
Saudi Med J ; 38(12): 1230-1236, 2017 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-29209673

RESUMEN

OBJECTIVES: To translate and linguistically validate the urticaria control test (UCT) to/for Arabic speakers. No Arabic version of the UCT is available to assess disease control in patients with chronic urticaria (CU). Secondary objectives were to assess disease control in Lebanese CU patients and determine influence factors. METHODS: This is a prospective observational study of 178 CU patients diagnosed during their first visit to a private Allergy/Immunology Clinic, Hotel Dieu de France Hospital, Beirut, Lebanon between January and December 2014. RESULTS: Factor analysis showed that all 4 UCT items on the Arabic version converged over a solution of one factor. A high internal consistency was found with a Cronbach's alpha of 0.824. Most patients in this study had chronic spontaneous urticaria (96%), of which 19% also had inducible urticaria. The majority was less than 40 years (67.4%), with disease duration of less than 2 years (70.8%). Most patients used H1-antihistamines, but unfortunately, 34.3% used systemic glucocorticosteroids, of which 24.7% also used H1-antihistamines. The disease was poorly controlled in most patients (79.2%, UCT less than 12). Age, gender, duration, diagnosis, triggers, and/or history of atopy had no influence. CONCLUSION: We developed the first linguistically validated Arabic UCT to improve CU management in Arabic speaking patients. We also found that disease control was poor in most CU patients, and is unaffected by age, disease duration, gender, subtype, triggers, history of atopy, and/or previous treatments.


Asunto(s)
Lingüística , Urticaria/prevención & control , Adulto , Anciano , Anciano de 80 o más Años , Enfermedad Crónica , Femenino , Humanos , Líbano , Masculino , Persona de Mediana Edad , Estudios Prospectivos , Traducción , Adulto Joven
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