Stereotactic body radiation therapy for primary liver tumors: An effective liver-directed therapy in the toolbox

The use of radiation for primary liver cancers has historically been limited because of the risk of radiation-induced liver disease. Treatment fields have become more conformal because of several technical advances, and this has allowed for dose escalation. Stereotactic body radiation therapy (SBRT), also known as stereotactic ablative radiotherapy, is now able to safely treat liver tumors to ablative doses while sparing functional liver parenchyma by using highly conformal therapy. Several retrospective and small prospective studies have examined the use of SBRT for liver cancers; however, there is a lack of well-powered randomized studies to definitively guide management in these settings. Recent advances in systemic therapy for primary liver cancers have improved outcomes; however, the optimal selection criteria for SBRT as a local therapy remain unclear among other liver-directed options such as radiofrequency ablation, transarterial chemoembolization, and radioembolization.     

Assessing the Psychological Impact of Genetic Susceptibility Testing

The expanded use of genetic testing raises key ethical and policy questions about possible benefits and harms for those receiving disease‐risk information. As predictive testing for Huntington’s was initiated in a clinical setting, survey research posing hypothetical test scenarios suggested that the vast majority of at‐risk relatives wanted to know whether they carried a disease‐causing mutation. However, only a small minority ultimately availed themselves of this opportunity. Many at‐risk individuals concluded that a positive test result would be too psychologically overwhelming. A substantial literature suggests that individuals are often more resilient than anticipated in coping with many different health‐related stresses. Much of my own work in the field has been through the Risk Evaluation & Education for Alzheimer’s Disease study (REVEAL), a series of randomized clinical trials assessing the impact of genetic susceptibility testing on asymptomatic individuals at risk for Alzheimer’s disease. Our experience in developing and implementing four successive, multisite trials provides some potentially useful lessons for the field. More people will be asking for their personal genetic information. Better understanding will help us decide when access is appropriate and how best to disclose results in a manner that supports adjustment to test findings and promotes use of genetic information to improve human health.     

A pilot study of levonorgestrel concentrations and bleeding patterns in women with epilepsy using a levonorgestrel IUD and treated with antiepileptic drugs

Objectives

We explored levonorgestrel (LNG) concentrations, bleeding patterns and endometrial thickness in women with epilepsy (WWE) initiating an LNG-intrauterine device (IUD) co-administered with antiepileptic drugs (AEDs).

Polygenic risk scores and skin cancer

Melanoma, cutaneous squamous cell carcinoma (cSCC), and basal cell carcinoma (BCC) are the most common skin cancer types in fair-skinned individuals. Risk of developing cancer is partly due to genetic factors, meaning that individuals who inherit certain DNA variations have an increased susceptibility to cancer. Disease-associated variations are often identified using genome-wide association studies (GWAS), in which millions of variants are assessed for impact on disease risk. Although individual variants generally do not predict risk, combining the effects of many variants into a polygenic risk score (PRS) may be informative in identifying individuals with increased skin cancer risk. Researchers based at Massachusetts General Hospital and The Ohio State University in the USA reviewed published genetic studies of skin cancer risk, by searching two databases of scientific publications. Twenty-one GWAS and 11 PRS studies for skin cancer were identified which showed that genes involved in skin colour affected all three cancer types, and some of the risk variants overlapped between types. Different PRS were associated with approximately 2-to-3-fold increases in risk of developing melanoma, cSCC, and BCC. Addition of non-genetic risk factors to the PRS for melanoma led to improved risk prediction ability of 2-7%. For cSCC and BCC, small improvements in predictive ability of about 2% were observed when PRS were used with other non-genetic factors. The authors concluded that while existing data indicate that PRS may modestly improve the ability to accurately predict risk of developing melanoma, cSCC, or BCC, additional research is needed to clarify their clinical usefulness in assessing skin cancer risk.     

How is Anxiety Identified and Diagnosed in Individuals with Autism Spectrum Disorder and Intellectual Disability? A Scoping Review

ABSTRACT

Introduction: Individuals with Autism Spectrum Disorder display a pattern of social communication deficits and restricted and repetitive behaviors that leave them particularly vulnerable to developing anxiety. The presence of a co-occurring Intellectual Disability further complicates the situation, compromising traditional diagnostic techniques and processes. The dual diagnosis of ASD and ID appears to result in specific behavioral patterns that affect the way anxiety is identified in this population.

Method: A scoping review was undertaken to explore what is currently known about the way anxiety is identified and diagnosed in individuals with ASD and ID.

Results: In the limited research available consistent themes of difficulties with the diagnostic process, inconsistencies among measurement tools and the need to consider behavioral symptomology were found.

Conclusion: Further research needs to be conducted to enhance our understanding of how anxiety is identified in those with ASD and ID. This research could more accurately inform reliable diagnostic processes and lead to better treatment and outcomes for this population.