Background: Hearing loss (HL) is one of the most common sensory disorders, affecting over 5-8% of the world's population. Approximately half of HL cases are attributed to genetic factors. In hereditary deafness, about 75-80% is inherited through autosomal recessive inheritance, and common pathogenic genes include GJB2 and SLC26A4. Pathogenic variants in the SLC26A4gene are the leading cause of hereditary hearing loss in humans, second only to the GJB2 gene. Variants in the SLC26A4gene cause hearing loss, which can be non-syndromic autosomal recessive deafness (DFNB4, OMIM #600791) associated with enlarged vestibular aqueduct (EVA) or Pendred syndrome (Pendred, OMIM #605646). DFNB4 is characterized by sensorineural hearing loss combined with EVA or less common cochlear malformation defect. Pendred syndrome is characterized by bilateral sensorineural hearing loss with EVA and an iodine defect that can lead to thyroid goiter. Currently, it is known that EVA is associated with variants in the SLC26A4 gene and is a penetrant feature of SLC26A4-related HL. Predominant mutations in these genes differ significantly across populations. For instance, predominant SLC26A4 mutations differ among populations, including p.T416P and c.1001G>A in Caucasians, p.H723R in Japanese and Koreans, and c.919-2A>G in Han Taiwanese and Han Chinese. On the other hand, there has been no study of hearing loss related to SLC26A4 gene variants among Mongolians, which is the basis of our research. Aim: We aimed to identify the characteristics of the SLC26A4 gene variants in Mongolian people with Enlarged vestibular aqueduct and Mondini malformation. Materials and Methods: In 2022-2024, We included 13 people with hearing loss and enlarged vestibular aqueduct, incomplete cochlea (1.5 turns of the cochlea with cystic apex- incomplete partition type II- Mondini malformation) were examined by CT scan of the temporal bone in our study. WES (Whole exome sequencing) analysis was performed in the Genetics genetic-laboratory of the National Taiwan University Hospital. Results: Genetic analysis revealed 26 confirmed pathogenic variants of bi-allelic SLC26A4 gene of 8 different types in 13 cases, and c.919-2A>G variant was dominant with 46% (12/26) in allele frequency, and c.2027T>A (p.L676Q) variant 19% (5/26), c.1318A>T(p.K440X) variant 11% (3/26), c.1229C>T (p.T410M) variant 8% (2/26) ) , c.716T>A (p.V239D), c.281C>T (p.T94I), c.1546dupC, and c.1975G>C (p.V659L) variants were each 4% (1/26)- revealed. Two male children, 11 years old (SLC26A4: c.919-2A>G) and 7 years old (SLC26A4: c.919-2A>G:, SLC26A4: c.2027T>A (p.L676Q))had history of born normal hearing and progressive hearing loss. Conclusions 1. 26 variants of bi-allelic SLC26A4 gene mutation were detected in Mongolian people with EVA and Mondini malformation, and c.919-2A>G was the most dominant allele variant, and rare variants such as c.1546dupC, c.716T>A (p.V239D) were detected. 2. Our study shows that whole-exome sequencing (WES) can identify gene mutations that are not detected by polymerase chain reaction (PCR) or NGS analysis.

Environmental damage affects many aspects of healthcare, from extreme weather events to evolving population disease. Singapore's healthcare sector has the world's second highest healthcare emissions per capita, hampering the nation's pledge to reduce emissions by 2030 and achieve net zero emissions by 2050. In this review, we provide an overview of the impact environmental damage has on healthcare, including facilities, supply chain and human health, and examine measures to address healthcare's impact on the environment. Utilising the 'R's of sustainability - rethinking, reducing/refusing, reusing/repurposing/reprocessing, repairing, recycling and research - we have summarised the opportunities and challenges across medical disciplines. Awareness and advocacy to adopt strategies at institutional and individual levels is needed to revolutionise our environmental footprint and improve healthcare sustainability. By leveraging evidence from ongoing trials and integrating sustainable practices, our healthcare system can remain resilient against environment-driven challenges and evolving healthcare demands while minimising further impacts of environmental destruction.
Humans ; Climate Change ; Delivery of Health Care ; Singapore ; Conservation of Natural Resources ; Sustainable Development ; Environment

The diagnosis and management of Bethesda III and IV thyroid nodules remain clinical dilemmas. Current guidelines from academic societies suggest active surveillance or diagnostic lobectomy. However, the extent of surgery is often inappropriate, and a considerable percentage of patients experience under- or over-treatment. Thermal ablation has gained popularity as a safe and effective alternative treatment option for benign thyroid nodules. This review explores the feasibility of thermal ablation for Bethesda III or IV thyroid nodules, aiming to preserve the thyroid organ and avoid unnecessary surgery. It emphasizes individualized management, the need to consider factors including malignancy risk, clinical characteristics, and sonographic features, and the importance of supplemental tests such as repeat fine needle aspiration cytology, core needle biopsy, molecular testing, and radioisotope imaging.

The diagnosis and management of Bethesda III and IV thyroid nodules remain clinical dilemmas. Current guidelines from academic societies suggest active surveillance or diagnostic lobectomy. However, the extent of surgery is often inappropriate, and a considerable percentage of patients experience under- or over-treatment. Thermal ablation has gained popularity as a safe and effective alternative treatment option for benign thyroid nodules. This review explores the feasibility of thermal ablation for Bethesda III or IV thyroid nodules, aiming to preserve the thyroid organ and avoid unnecessary surgery. It emphasizes individualized management, the need to consider factors including malignancy risk, clinical characteristics, and sonographic features, and the importance of supplemental tests such as repeat fine needle aspiration cytology, core needle biopsy, molecular testing, and radioisotope imaging.

The diagnosis and management of Bethesda III and IV thyroid nodules remain clinical dilemmas. Current guidelines from academic societies suggest active surveillance or diagnostic lobectomy. However, the extent of surgery is often inappropriate, and a considerable percentage of patients experience under- or over-treatment. Thermal ablation has gained popularity as a safe and effective alternative treatment option for benign thyroid nodules. This review explores the feasibility of thermal ablation for Bethesda III or IV thyroid nodules, aiming to preserve the thyroid organ and avoid unnecessary surgery. It emphasizes individualized management, the need to consider factors including malignancy risk, clinical characteristics, and sonographic features, and the importance of supplemental tests such as repeat fine needle aspiration cytology, core needle biopsy, molecular testing, and radioisotope imaging.

The diagnosis and management of Bethesda III and IV thyroid nodules remain clinical dilemmas. Current guidelines from academic societies suggest active surveillance or diagnostic lobectomy. However, the extent of surgery is often inappropriate, and a considerable percentage of patients experience under- or over-treatment. Thermal ablation has gained popularity as a safe and effective alternative treatment option for benign thyroid nodules. This review explores the feasibility of thermal ablation for Bethesda III or IV thyroid nodules, aiming to preserve the thyroid organ and avoid unnecessary surgery. It emphasizes individualized management, the need to consider factors including malignancy risk, clinical characteristics, and sonographic features, and the importance of supplemental tests such as repeat fine needle aspiration cytology, core needle biopsy, molecular testing, and radioisotope imaging.

The diagnosis and management of Bethesda III and IV thyroid nodules remain clinical dilemmas. Current guidelines from academic societies suggest active surveillance or diagnostic lobectomy. However, the extent of surgery is often inappropriate, and a considerable percentage of patients experience under- or over-treatment. Thermal ablation has gained popularity as a safe and effective alternative treatment option for benign thyroid nodules. This review explores the feasibility of thermal ablation for Bethesda III or IV thyroid nodules, aiming to preserve the thyroid organ and avoid unnecessary surgery. It emphasizes individualized management, the need to consider factors including malignancy risk, clinical characteristics, and sonographic features, and the importance of supplemental tests such as repeat fine needle aspiration cytology, core needle biopsy, molecular testing, and radioisotope imaging.

INTRODUCTION: Chest radiographs (CXRs) are widely used for the screening and management of COVID-19. This article describes the radiographic features of COVID-19 based on an initial national cohort of patients. METHODS: This is a retrospective review of swab-positive patients with COVID-19 who were admitted to four different hospitals in Singapore between 22 January and 9 March 2020. Initial and follow-up CXRs were reviewed by three experienced radiologists to identify the predominant pattern and distribution of lung parenchymal abnormalities. RESULTS: In total, 347 CXRs of 96 patients were reviewed. Initial CXRs were abnormal in 41 (42.7%) out of 96 patients. The mean time from onset of symptoms to CXR abnormality was 5.3 ± 4.7 days. The predominant pattern of lung abnormality was ground-glass opacity on initial CXRs (51.2%) and consolidation on follow-up CXRs (51.0%). Multifocal bilateral abnormalities in mixed central and peripheral distribution were observed in 63.4% and 59.2% of abnormal initial and follow-up CXRs, respectively. The lower zones were involved in 90.2% of initial CXRs and 93.9% of follow-up CXRs. CONCLUSION In a cohort of swab-positive patients, including those identified from contact tracing, we found a lower incidence of CXR abnormalities than was previously reported. The most common pattern was ground-glass opacity or consolidation, but mixed central and peripheral involvement was more common than peripheral involvement alone.
COVID-19 ; Humans ; Lung/diagnostic imaging* ; Radiography, Thoracic ; Retrospective Studies ; SARS-CoV-2 ; Singapore