Clinical medicine (London, England)
-
Case Reports
A Novel Mutation in the ABCC8 Gene Causing Maturity-onset Diabetes of the Young: a Case Report.
A 34-year-old woman was diagnosed with type 1 diabetes mellitus and treated with insulin for 24 years. The patient has a family history of diabetes in three consecutive generations. Her Whole exon sequencing showed a heterozygous mutation in the ABCC8 gene, and it also found some of her relatives to carry this mutation. She was diagnosed with MODY12 and received glimepiride therapy with the achievement of good glycaemic control.
-
Mental health conditions are highly prevalent among physicians with high rates of depression, anxiety, stress-related disorders, suicidal ideation and burnout reported among medical practitioners at all levels of training and practice. This phenomenon is in part contributed by a highly stressful clinical environment with an often suboptimal support system for doctors. ⋯ In general, drivers of mental health stigma in the medical profession include self-stigmatisation predisposed by physician personality and character traits, societal stereotypes about mental illness permeating through the medical community, and systemic constructs such as mandatory mental health declarations for medical licensure that perpetuate the unfortunate perception that mental illness appears synonymous with job impairment or incompetency. To destigmatise mental health issues in the medical profession, we herein propose multi-pronged strategies which can practically be implemented: 1) normalisation of mental health issues through open dialogue and sharing, 2) creating a supportive, "psychologically friendly" work environment through increased accessibility to workplace mental health support services, peer support systems, and reduction of psychiatric "name-calling" practices, and 3) reviewing systemic practices, in particular the mandatory mental health declarations for medical registration, that perpetuate mental health stigma.
-
Non-tuberculous mycobacteria (NTM) infections predominantly present as pulmonary disease. Although relatively rare, 20-30 % originate from extrapulmonary sites resulting in a wide range of clinical syndromes. ⋯ Diagnosing extrapulmonary NTM is challenging, and management is complex, often involving multiple radiological and microbiological investigations, long courses of combination antibiotic regimens and may require adjuvant surgical interventions. We highlight both the importance of involving NTM experts at an early stage and the role of a multidisciplinary approach in the diagnosis and management of these infections.