In this paper, thyroid peroxidase (TPO) gene mutation was studied in a congenital hypothyroidism (CH) family with 2 patients, to explore the mechanism of c. 2268dupT homozygous mutation leading to thyroid nodules, as well as the relationship between TPO gene mutation and thyroid cancer. The result suggested that TPO gene mutation is one of the reasons for congenital hypothyroidism, TPO gene c. 2268 dupT mutations can lead to thyroid nodules, which may be related to long-term high TSH stimulation and truncated protein accumulation. TPO gene mutations have a certain correlation with thyroid cancer, the risk may increase with the increase of age, but the mechanism is not clear at present. In the future, further research on the correlation and mechanism between the two factors is needed, as well as to determine whether it is necessary to remove the thyroid gland to prevent the accarance of cancer in CH patients with TPO gene mutation with thyroid nodules.

Objective:To compare the clinical value of visual analogue scale （VAS）, Lebel scale and total nasal symptom scores （TNSS） in evaluating nasal allergen provocation test （NAPT）. Methods:A total of 151 patients suspected of allergic rhinitis admitted to the Department of Otolaryngology-Head and Neck Surgery of our hospital from April 2020 to September 2020 were included, of which 76 were positive for house dust mites and 75 were negative for allergens. Nasal airway resistance（NAR） was measured by active anterior nasal manometry. Nasal symptoms were evaluated by VAS, Lebel and TNSS. House dust mite allergen was used for NAPT by spray method. An increase≥40% in NAR was used as the gold standard for objective evaluation of NAPT. ROC curves of VAS, Lebel and TNSS were drawn to compare the evaluation effectiveness of different subjective evaluation methods, and the optimal critical point of each ROC curve was obtained. Results:With NAR increased by ≥40% as the gold standard, the area under ROC curve of VAS was 0.884, and the sensitivity and specificity were 97.75% and 80.65%, respectively. The area under ROC curve of Lebel was 0.773, and the sensitivity and specificity were 68.54% and 75.81%, respectively. The area under ROC curve of TNSS was 0.792, and the sensitivity and specificity were 68.54% and 79.03%, respectively. There was no significant difference between Lebel and TNSS（P>0.05）. The VAS differed significantly from Lebel and TNSS（P<0.05）. The Kappa values of VAS, Lebel, TNSS and NAR were 0.803, 0.432 and 0.459, respectively. Conclusion:The VAS, Lebel, TNSS subjective scale and NAR are consistent in evaluating the efficacy of NAPT, with the VAS assessment showing highest consistency with NAR. As objective assessment instruments are not widely used in China, subjective assessment method could be adopted to evaluate the efficacy of NAPT in clinical practice, and VAS scale is recommended as a priority.
Animals ; Humans ; Allergens ; Nasal Provocation Tests/methods* ; Rhinitis, Allergic/diagnosis* ; Nose ; Pyroglyphidae