1.Mutation analysis of thyroid peroxidase gene in a Chinese family with congenital hypothyroidism and literature review
Huarong ZENG ; Shuhang XU ; Huifeng ZHANG ; Zhifu KE ; Xiangrong YE ; Chao LIU
Chinese Journal of Endocrinology and Metabolism 2020;36(11):956-960
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.
2.Assessment of left ventricular function using tissue motion mitral annular displacement in patients with cardiac amyloidosis
Yulian YAN ; Qihuan FU ; Min ZHANG ; Shuqi YU ; Yiting KONG ; Huarong ZENG ; Yifan TU ; Rong LIU
Chinese Journal of Medical Imaging Technology 2024;40(10):1504-1508
Objective To observe the value of tissue motion mitral annular displacement(TMAD)technique to assess left ventricular function in patients with cardiac amyloidosis.Methods A total of 34 adult patients with cardiac amyloidosis diagnosed by pathology were retrospectively included as the observation group,and 32 healthy adults were collected as the control group for the same period.Basic data of the subjects were collected,and data of routine ultrasonic parameters of left ventricular function and TMAD parameters were obtained,and then compared between groups.The correlation of TMAD parameters with left ventricular ejection fraction(LVEF)or mitral annular plane systolic excursion(MAPSE)were assessed.Results Compared with the control group,the observation group had higher levels of body surface area(BSA),systolic blood pressure,N-terminal pro-B-type natriuretic peptide(NT-proBNP),creatinine and urea(all P<0.05).The observation group had increased values of ascending aorta(AO),left atrium(LA),interventricular septum(IVS),left ventricular posterior wall thickness in diastole(LVPWD),pulmonary artery(PA),and early diastolic peark velocity of mitral inflow(peak E),while smaller values of left ventricular end-diastolic dimension(LVEDD),LVEF,fractional shortening(FS),early diastolic tissue Doppler velocity E'septal(IVS E')and lateral(LW E')and MAPSE(all P<0.05),and the LVEF in observation group was(58.18±7.09)%.For TMAD patameters,the observation group had smaller values of the following parameters on apical four chamber(A4C)view as medial displacement of mitral valve annulus(A4C MV1),displacement of lateral mitral valve annulus(A4C MV2),displacement of the midpoint of the mitral valve annulus(A4C Midpt)and the corresponding percentage(A4C Midpt%),as well as smaller values of the following paramets on apical two chamber(A2C)view as A2C MV1,A2C MV2,A2C Midpt and A2C Midpt%(all P<0.05).In the observation group,A4C Midpt%showed a moderate positive correlation with LVEF(r=0.488,P<0.05),and A2C Midpt showed a high positive correlation with M APSE(r=0.712,P<0.05),and A4C MV2,A4C Midpt,A4C Midpt%,A2C MV1,A2C MV2,A2C Midpt%all showed a moderate positive correlation with MAPSE(r=0.420 to 0.691,all P<0.05).Conclusion Compared with LVEF,the TMAD parameters might reflect the changes in left ventricular systolic function more sensitively in patients with cardiac amyloidosis.
3.Evaluation of subjective scale in allergen nasal provocation test.
Li SHEN ; Xiuxiu HU ; Liang ZENG ; Yuanhua LIU ; Ying WU ; Huarong YI ; Qing LUO ; Jing YE
Journal of Clinical Otorhinolaryngology Head and Neck Surgery 2023;37(6):423-427
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
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Humans
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Allergens
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Nasal Provocation Tests/methods*
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Rhinitis, Allergic/diagnosis*
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Nose
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Pyroglyphidae