Background/aim: Adenoid hypertrophy (AH) is chronic enlargement of the adenoid tissue. The pathophysiology of the disease is unclear. We analyzed SCGB1D4 gene polymorphisms in order to determine the effect of the variants or their genetic combinations on AH.
Materials and methods:We genotyped the SCGB1D4 (IIS) gene in 167 participants (95 children with AH and 72 controls) by performing DNA sequencing in blood samples.
Results:We genotyped three single nucleotide polymorphisms (SNPs). In the analysis, we found that in the presence of those SNPs and the minor alleles of individual SNPs four haplotypes were associated with an increased risk of AH. In addition, those SNPs were significantly associated with asthma, allergy, sleep-disordered breathing, AH grade +4, and a high level of IgE. As indicated on multifactor dimensionality reduction analysis, single-locus (rs35328961), two-locus (rs35328961_rs56196602), and three-locus models (rs200327820_rs35328961_rs56196602) had the highest synergistic interaction effect on AH. The three-factor model was also significantly associated with some genotypes of rs35328961 and allergic-asthmatic AH.
Conclusion:SNPs of SCGB1D4 and their combinations are associated with an increased risk for developing AH. We highlighted the importance of genetic factors on AH and AH-related clinical phenotypes.
Some single nucleotide polymorphisms and their combinations in the Ugrp2 gene are associated with an increased risk of developing adenoid hypertrophy. Therefore, we tried to underline the importance of genetic factors associated with adenoid hypertrophy and its related clinical phenotypes.
ABS TRACT Pseudomyogenic hemangioendothelioma (PHE) is a rare neoplasm with vascular origin mostly seen on the extremities. Up to date, the terminology which represents PHE has been a subject to debate. According to the World Health Organization, PHE is classified among the soft tissue tumors. PHE is mostly seen in soft tissue planes and the distal lower extremities are the most affected location of the body. Localization of this tumor on the head and neck region is uncommon. PHE, being a sarcoma does not favor lymphogenic metastasis. As far as we are concerned, this is the first described case of PHE of the external ear and retro auricular sulcus. In this paper, the management of this case and the current treatment options of PHE are discussed.
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