JAMA otolaryngology-- head & neck surgery最新文献

Importance: Image-guided thermal ablation has been administered for patients with T1N0M0 papillary thyroid carcinoma (PTC) who elect to not undergo surgery or receive active surveillance. Considering the indolent nature of PTC, long-term outcomes of ablation are needed.

Objective: To investigate l0-year outcomes of thermal ablation in treating T1N0M0 PTC.

Design, setting, and participants: This multicenter study was conducted at 4 university-affiliated hospitals in China and included 179 consecutive patients with T1N0M0 PTC (median [IQR] volume, 88.0 [163.2] mm3) who underwent thermal ablation between June 2010 and March 2014. Patients who were ineligible to undergo surgery or elected not to were included, and patients had PTC tumors that were smaller than 20 mm as confirmed by biopsy; no clinical or imaging evidence of extrathyroidal extension, lymph node metastasis (LNM), or distant metastasis; and no history of neck irradiation.

Main outcomes and measures: The primary outcomes were disease progression (LNM, newly developed tumors, persistent tumors, and distant metastasis) and disease-free survival (DFS). Secondary outcomes were technical success, volume reduction rate, tumor disappearance, complications, and delayed surgery. DFS was calculated using a Kaplan-Meier analysis.

Results: Among the 179 patients, the mean (SD) age was 45.8 (12.7) years, and 118 (65.9%) were female. During a mean (SD) follow-up period of 120.8 (10.8) months, disease progression was found in 11 of 179 patients (6.1%), including LNM in 4 patients (2.2%), newly developed tumors in 6 patients (3.3%), and persistent tumor in 1 patient (0.6%). The 10-year DFS was 93.9%. The technical success, median volume reduction rate, and tumor disappearance rate was 100%, 100%, and 97.2%, respectively. The magnitude of the disease progression (6.1% vs 7.1%; difference, 1.0%; 95% CI, -6.5% to 25.6%) and DFS (93.9% vs 92.9%; difference, 1.0%, 95% CI, -6.5% to 25.6%) between patients with T1a and T1b tumors was small. The difference in the rate of tumor disappearance between T1a and T1b tumors was large (99.4% vs 71.4%; difference, 28.0%; 95% CI, 10.9%-54.0%). One patient experienced transient voice hoarseness (0.6%). Because of anxiety, 1 patient underwent delayed surgery (0.6%).

Conclusions and relevance: The results of this 10-year multicenter cohort study suggest that thermal ablation is an effective and safe alternative for patients with T1N0M0 PTC who do not undergo surgery or receive active surveillance. For safe and effective treatment, accurate radiologic evaluation, an understanding of ablation techniques, and experienced physicians are recommended.

Importance: Monogenic causes of childhood hearing loss are well established, as are polygenic risk contributions to age-related hearing loss. However, an untested possibility is that polygenic risk scores (PRS) also contribute to childhood hearing loss of all severities, alongside environmental and/or monogenic causes.

Objective: To examine the association between a PRS for adult hearing loss and childhood hearing loss phenotypes.

Design, setting, and participants: This cross-sectional study used a unique population-based dataset spanning normal hearing to profound loss, combining 2 contemporaneous population cohorts in Australia. This included the Child Health CheckPoint, a national population-based cross-sectional study nested within the Longitudinal Study of Australian Children, and the Victorian Childhood Hearing Longitudinal Databank (VicCHILD), a statewide population-based longitudinal data bank open to every child with congenital hearing loss in Victoria, Australia. The analysis took place from March to August 2023.

Exposures: Genotype data were generated from saliva- or blood-derived DNA using global single-nucleotide variations arrays. Based on genotype data, PRS was computed using published UK Biobank genome-wide association study results for self-reported hearing difficulty in individuals aged 40 to 69 years.

Main outcomes and measures: Hearing outcomes were classified by laterality (bilateral, unilateral), severity (mild, moderate, severe or worse) and types (sensorineural, conductive, mixed, auditory neuropathy, atresia). Analyses included multinominal logistic regressions of PRS with hearing outcomes.

Results: Overall, 1488 CheckPoint study children (49.8% boys, aged 11-12 years) and 527 VicCHILD study children (55.2% boys, aged 0-13 years) with hearing and genotype data were included. A 1-SD increment in PRS was associated with higher odds of mild (odds ratio [OR], 1.3; 95% CI, 1.0-1.6), moderate (OR, 5.1; 95% CI, 3.2-8.1), and severe or worse (OR, 5.3; 95% CI, 3.9-7.3) unilateral hearing loss compared with normal hearing. Similarly, the PRS was associated with increased odds of mild, moderate, and severe or worse bilateral hearing loss (per-SD ORs, 3.9-6.6) and all hearing loss types (per-SD ORs, 8.5-10.6).

Conclusions and relevance: In this cross-sectional study, a PRS initially developed for adult hearing difficulty was associated with wide-ranging childhood hearing loss phenotypes, partly explaining hearing phenotype variations despite shared genetic and environmental factors (eg, preterm birth). Large-scale studies with objectively defined hearing phenotypes are crucial for refining PRS and predicting high-risk children.