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1.
Pediatr Allergy Immunol ; 35(4): e14127, 2024 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-38646959

RESUMEN

Peanut allergy affects about 1%-3% of the pediatric population in the world, with an important increase in the last decades. Nowadays, international guidelines recommend the early introduction of peanuts in the infant diet, with poor information about the quantity and the frequency of the intake. Allergen immunotherapy may represent the only therapeutic strategy able to modify the natural history of peanut allergy. In particular, oral immunotherapy showed the most promising results in terms of efficacy, but with significant rates of adverse reactions, mostly gastrointestinal. In 2020, the Food and Drug Administration and the European Medicines Agency approved Palforzia®, an oral drug for patients aged 4-17 years. Several studies are ongoing to improve the tolerability of oral immunotherapy and standardize the desensitization protocols. Sublingual immunotherapy permits to offer much lower doses than oral immunotherapy, but fewer adverse events are shown. Subcutaneous immunotherapy is associated with the greatest systemic adverse effects. Epicutaneous immunotherapy, for which Viaskin® patch was approved, has the highest safety profile. Innovative studies are evaluating the use of biological drugs, such as omalizumab or dupilumab, and probiotics, such as Lactobacillus rhamnosus, in monotherapy or associated with oral immunotherapy. Therapy for peanut allergy is constantly evolving, and new perspectives are ongoing to develop.


Asunto(s)
Alérgenos , Desensibilización Inmunológica , Hipersensibilidad al Cacahuete , Humanos , Hipersensibilidad al Cacahuete/terapia , Hipersensibilidad al Cacahuete/inmunología , Desensibilización Inmunológica/métodos , Niño , Preescolar , Adolescente , Alérgenos/inmunología , Alérgenos/administración & dosificación , Administración Oral , Arachis/inmunología , Probióticos/uso terapéutico , Probióticos/administración & dosificación
2.
Am J Med Genet A ; 185(2): 390-396, 2021 02.
Artículo en Inglés | MEDLINE | ID: mdl-33174385

RESUMEN

Williams-Beuren syndrome (WBS) is caused by an haploinsufficiency of the 7q11.2 region which involves the elastin gene (ELN). A deficiency of elastin is a known pathophysiological mechanism of emphysema/chronic obstructive pulmonary disease (COPD). A previous study hypothesized a higher risk of COPD in WBS patients. Herein, this phenomenon was further investigated looking for a possible correlation between COPD and WBS. Dynamic lung volumes (forced vital capacity [FVC], FEV1, FEV1/FVC) were measured in 22 patients (age range 18.9 ± 7.4 years) affected with WBS, genetically confirmed, correlating these parameters to respiratory risk factors. Dyspnea, cough and wheezing were detected in 6/22 (27%) patients. Obstructive and restrictive patterns were identified in 6/22 (27%) and 2/22 (9%) cases, respectively with no evidence of irreversible obstruction. CVF, FEV1 and FEV1/CVF mean values were all normal, with values of 91.3% (n.v. > 80%), 84.2% (n.v. > 80%) and 0.82 (n.v. > 0.7), respectively. The severity of the comorbidities did not show a cause-effect relation with the respiratory patterns, nevertheless patients treated with anti-hypertensive drugs had poorer pulmonary function. Our findings are in accordance with previous observations, showing that emphysema/COPD is not a typical finding in young patients with WBS. However, a respiratory function assessment should be included in the follow-up of WBS patients, especially in adolescents/young adults under treatment with anti-hypertensive drugs.


Asunto(s)
Pulmón/fisiopatología , Enfermedad Pulmonar Obstructiva Crónica/genética , Enfisema Pulmonar/genética , Síndrome de Williams/genética , Adolescente , Adulto , Niño , Elastina/metabolismo , Femenino , Humanos , Italia/epidemiología , Masculino , Persona de Mediana Edad , Enfermedad Pulmonar Obstructiva Crónica/diagnóstico , Enfermedad Pulmonar Obstructiva Crónica/fisiopatología , Enfisema Pulmonar/diagnóstico , Enfisema Pulmonar/patología , Pruebas de Función Respiratoria , Factores de Riesgo , Espirometría , Capacidad Vital/fisiología , Síndrome de Williams/diagnóstico , Síndrome de Williams/fisiopatología , Adulto Joven
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