Medical Bulletin 16/August/2023

Here are the top medical news for the day:

Bad hair days may have genetics to blame

The first gene mapping study on human scalp hair whorls not only shows that hair whorl direction has a genetic basis, but also that it is affected by multiple genes. Four associated genetic variants that are likely to influence hair whorl direction are identified, as reported in the Journal of Investigative Dermatology.

As an easily observed human trait, scalp hair whorl pattern is typically defined by the whorl number (single or double whorl) and whorl direction (e.g., clockwise, counterclockwise, or diffuse). Because atypical whorl patterns have been observed in patients with abnormal neurological development, understanding the genetic basis of whorl patterns may help unravel important biological processes.

Reference: “GWASs Identify Genetic Loci Associated with Human Scalp Hair Whorl Direction,” by Junyu Luo, He Huang, Hui Qiao, Jingze Tan, Wenyan Chen, Manfei Zhang, Andrés Ruiz-Linares, Jiucun Wang, Yajun Yang, Li Jin, Denis J. Headon, and Sijia Wang (https://doi.org/10.1016/j.jid.2022.11.026). It appears online in advance of the Journal of Investigative Dermatology, volume 143, issue 10 (October 2023), published by Elsevier.

Myelodysplastic syndromes diagnosis may need a second opinion

Blood disorders known as myelodysplastic syndromes/neoplasms (MDS) are difficult to diagnose – and are commonly misdiagnosed – putting patients at increased risk for treatment mistakes and other potentially harmful consequences, according to researchers with Sylvester Comprehensive Cancer Center at the University of Miami Miller School of Medicine and collaborating organizations.

The actual number of MDS diagnosed could be higher due to underreporting and misclassification. The team compared the results from more than 900 patients enrolled in the National Heart, Lung and Blood Institute’s (NHLBI) National MDS Natural History Study

Reference: Discordant Pathologic Diagnoses of Myelodysplastic Neoplasms and Their Implications for Registries and Therapies, Blood Advances; DOI 10.1182/bloodadvances.2023010061 

Elevated MRI enhancement raised cancer risk in women with very dense breasts

A machine learning model found that background parenchymal enhancement (BPE) on breast MRI is an indicator of breast cancer risk in women with extremely dense breasts, according to a study published in Radiology.

Women with extremely dense breasts are at a three- to six-times higher risk of developing breast cancer compared to women who have fatty breasts. Since mammography is less sensitive in detecting early-stage breast cancer in women with dense breasts, women between the ages of 50 and 75 years with dense breasts may benefit from additional MRI screening.

Reference: Assessing Quantitative Parenchymal Features at Baseline Dynamic Contrast-enhanced MRI and Cancer Occurrence in Women with Extremely Dense Breasts, Radiology (https://doi.org/10.1148/radiol.222841)