Publications by authors named "J B Higgs"
Purpose: We sought to evaluate outcomes for clinical management after a genetic diagnosis from the Deciphering Developmental Disorders study.
Methods: Individuals in the Deciphering Developmental Disorders study who had a pathogenic/likely pathogenic genotype in the DECIPHER database were selected for inclusion ( = 5010). Clinical notes from regional clinical genetics services notes were reviewed to assess predefined clinical outcomes relating to interventions, prenatal choices, and information provision.
Aims: Healthcare foodservices substantially impact global environmental changes. This study investigated environmentally sustainable practices in Australian health foodservices; and perceptions of the influence of COVID-19 on foodservice environmental sustainability.
Methods: An observational study was undertaken collecting data at two time points (2019 and 2022) via a pre-workshop survey with healthcare foodservice stakeholders.
Article Synopsis
- The case study discusses a female patient diagnosed with achondroplasia due to an FGFR3 gene variant, but her symptoms indicated a more complex condition, prompting further genetic analysis.* -
- Despite her initial diagnosis, the patient exhibited unusual features such as small head size, distinct facial characteristics, speech delay, and hearing loss, leading to her participation in extensive genetic research efforts.* -
- Ultimately, the discovery of an EFTUD2 gene rearrangement revealed a second diagnosis of mandibulofacial dysostosis with microcephaly, marking a rare instance of dual genetic disorders in one individual and emphasizing the need for careful genetic evaluations.*
We report a rare case of a patient with Janus kinase 2-positive myelofibrosis on ruxolitinib, presenting with indolent pneumonia and cavitary lung lesions. Initial transthoracic biopsy was non-specific, but thoracoscopic biopsy revealed necrotising granulomatous disease caused by pneumonia (PJP). The patient, initially treated with trimethoprim-sulfamethoxazole, was switched to atovaquone due to gastrointestinal intolerance.
View Article and Find Full Text PDFIn the pursuit of new lead compounds with fewer side effects than opioids, the novel synthetic phytochemical core, 3,3-dibromoflavanone (3,3-DBF), has emerged as a promising candidate for pain management. Acute assays demonstrated dose-dependent central and peripheral antinociceptive activity of 3,3-DBF through the μ-opioid receptor. This study aimed to explore repeated administration effects of 3,3-DBF in mice and compare them with morphine.
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