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Purpose: Oral corticosteroids (OCS) are an effective treatment for severe uncontrolled asthma or asthma exacerbations, but frequent bursts or long-term use carry serious and sometimes irreversible adverse effects, or complications such as adrenal insufficiency upon discontinuation. Our aim was to survey people with asthma on their experiences of, and attitudes towards, using OCS.

Patients And Methods: This study was a national descriptive cross-sectional survey of people with asthma in Australia.

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Incidental adrenal masses are frequently detected due to the extensive use of cross-sectional imaging, with about 3% to 7% of adults estimated to have them. Paragangliomas and pheochromocytomas (PPGL), rare tumors originating from paraganglia tissues, including the adrenal medulla, continue to be imaging mimics, necessitating a multimodal approach for accurate diagnosis. We report a case of 72-years male presenting with intermittent pain abdomen for the past 1 year.

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Unlabelled: Bladder paragangliomas are rare extra-adrenal urological tumors that account for around 0.05% of bladder cancers. Their diagnosis is often delayed because of the rarity of these tumors.

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Dense-core vesicles (DCVs) are found in various types of cells, such as neurons, pancreatic β-cells, and chromaffin cells. These vesicles release transmitters, peptides, and hormones to regulate diverse functions, such as the stress response, immune response, behavior, and blood glucose levels. In traditional electron microscopy after chemical fixation, it is often reported that the dense cores occupy a portion of the vesicle towards the center and are surrounded by a clear halo.

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High clinical utility of long-read sequencing for precise diagnosis of congenital adrenal hyperplasia in 322 probands.

Hum Genomics

January 2025

Department of Endocrine and Metabolic Diseases, Children's Hospital of Chongqing Medical University, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing, China.

Background: The molecular genetic diagnosis of congenital adrenal hyperplasia (CAH) is very challenging due to the high homology between the CYP21A2 gene and its pseudogene CYP21A1P.

Methodology: This study aims to assess the clinical efficacy of targeted long-read sequencing (T-LRS) by comparing it with a control method based on the combined assay (NGS, Multiplex ligation-dependent probe amplification and Sanger sequencing) and to introduce T-LRS as a first-tier diagnostic test for suspected CAH patients to improve the precise diagnosis of CAH.

Results: A large cohort of 562 participants including 322 probands and 240 family members was enrolled for the perspective (96 probands) and prospective study (226 probands).

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