News in brief: Face up to genetic links in acne susceptibility; Surprising twist in ‘ultrathick’ melanoma outcomes; Most hospital-acquired complications are not preventable

Thursday, 10 Feb 2022


Face up to genetic links in acne susceptibility

Researchers, led by the QIMR Berghofer Medical Research Institute, have found more evidence supporting a genetic contribution to acne susceptibility.

A meta-analysis of 14 genome-wide association studies (GWAS) of acne, comprising 615,396 participants from nine independent cohorts, has identified 43 acne-risk loci. Most (n=29) were new loci and 14 had previously been identified.

“Assuming a population prevalence of 30% for acne, the genome-wide significant acne risk loci explain an estimated 6.01% of the variance in acne liability,” the study said.

It found evidence of genetic correlation between acne and Crohn’s Disease (rg = 0.19, s.e. = 0.07).

“We also observe evidence of shared genetic architecture with disease traits that are phenotypically associated with acne; this includes breast cancer (rg = 0.16, s.e. = 0.05) and psychiatric disorders such as schizophrenia (rg = 0.18, s.e. = 0.06) and bipolar disorder (rg = 0.12, s.e. = 0.05).”

Read more in Nature Communications


Surprising twist in ‘ultrathick’ melanoma outcomes

The progressive relationship between increasing Breslow thickness and decreasing survival is lost in patients with very thick melanomas ≥15 mm.

A study from a pooled cohort of 5,595 Dutch and Australian patients with melanomas ≥4.0mm in Breslow thickness found the continuous hazard ratio (HR) for OS and RFS increased steadily as Breslow thickness increased to 15 mm, stabilised up to 20 mm, and decreased thereafter.

“While increasing Breslow thickness is strongly associated with progressively worsening survival outcomes in patients with thin melanomas (≤1.0mm) and intermediate thickness melanomas (1.1-4.0mm), its progressive association with survival outcomes was lost in patients with “ultra-thick” melanomas (which we defined arbitrarily as ≥15mm),” the study said.

The researchers said a biological explanation for the more favorable than expected outcomes for patients with ultrathick melanomas remains uncertain.

“Anecdotally, we have recognised that a number of these ultrathick primary tumors had a polypoid architecture, raising the possibility that perhaps they had less capacity to access lymphatics or blood vessels as a consequence of their predominantly exophytic growth pattern.”

“Alternative hypotheses to explain the finding include biologically intrinsic factors unique to these tumors.”

Read more in the Journal of the American Academy of Dermatology


Most hospital-acquired complications are not preventable

Complications are common in hospitalised patients but rates are driven more by patient factors rather than hospital care quality factors that can be modified, new Australian research shows.

A review of 1.5 million admissions at 38 major public hospitals in South Australia and Victoria between 2015–2018 found that almost one in ten patients (9.7%) had a complication episode.

However the variations between hospitals were determined mostly by patient factors (overall correlation coefficient 0.55) whereas hospital factors accounted for only 5% of the variation.

The findings have important implications for the interpretation of hospital‐acquired complication reports and implementation of mitigation programs, the study authors said.

“Failure to differentiate between the two groups of factors may lead to practice changes that are clinically sound but ineffective in reducing complication rates. Increasing the funding of health care, improved clinical guidelines, and training and education may reduce rates of complications attributable to hospital factors and health care errors, but are unlikely to reduce those linked with patient‐related factors,” they wrote in The MJA.

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