RESUMEN
BACKGROUND: The aim of our study was to assess the knowledge, practices, and attitudes towards food allergens and allergies among diagnosed food allergic individuals in Lebanon. METHODS: Seventy diagnosed participants were recruited after reaching out to all the allergists of the country. They completed in person or over the phone a comprehensive valid questionnaire composed of 49 questions. RESULTS: Wheat was reported as top food allergen (15.7%), while itchy skin and rash were the most reported symptoms (71.4% and 68.6%, respectively). Only 34 (48.6%) of participants indicated they carry medications, 58 (70.7%) were diagnosed using blood test, and 22 (31.4%) stated that they are very knowledgeable on the topic. In terms of knowledge, participants scored on average 84.2 ± 11.5%. In terms of best practices, participants scored on average 47.8 ± 28.3%. Having a health related educational background increased significantly (p < 0.05) both knowledge and best practices scores, while age and gender did not have an effect. CONCLUSIONS: Our results highlight the importance of organizing ongoing educational initiatives and emphasize the need to lobby policy makers to making allergen-warning labels obligatory in the country.
RESUMEN
Waardenburg syndrome (WS) is a genetic disorder characterized by sensorineural hearing loss and pigmentation anomalies. The clinical definition of four WS types is based on additional features due to defects in structures mostly arising from the neural crest, with type I and type II being the most frequent. While type I is tightly associated to PAX3 mutations, WS type II (WS2) remains partly enigmatic with mutations in known genes (MITF, SOX10) accounting for only 30% of the cases. We performed exome sequencing in a WS2 index case and identified a heterozygous missense variation in EDNRB. Interestingly, homozygous (and very rare heterozygous) EDNRB mutations are already described in type IV WS (i.e., in association with Hirschsprung disease [HD]) and heterozygous mutations in isolated HD. Screening of a WS2 cohort led to the identification of an overall of six heterozygous EDNRB variations. Clinical phenotypes, pedigrees and molecular segregation investigations unraveled a dominant mode of inheritance with incomplete penetrance. In parallel, cellular and functional studies showed that each of the mutations impairs the subcellular localization of the receptor or induces a defective downstream signaling pathway. Based on our results, we now estimate EDNRB mutations to be responsible for 5%-6% of WS2.