Detained men with mild-moderate intellectual disabilities and histories of severe aggression can successfully engage in, and benefit from, an intensive individual cognitive-behavioural anger treatment that also appears to have beneficial systemic effects.
Following treatment, significant improvements were found in all areas assessed, excepting depression. Despite the limitations of the study design, the results provide encouragement and some guidance to practitioners who are required to develop interventions for this challenging, yet much neglected client group.
The introduction of next-generation sequencing has resulted in testing multiple genes simultaneously to identify inherited pathogenic variants (PVs) in cancer susceptibility genes. PVs with low minor allele frequencies (MAFs) (< 25–35%) are highlighted on germline genetic test reports. In this review, we focus on the challenges of interpreting PVs with low MAF in breast cancer patients undergoing germline testing and the implications for management.
The clinical implications of a germline PV are substantial. For PV carriers in high-penetrance genes like BRCA1, BRCA2, and TP53, prophylactic mastectomy is often recommended and radiation therapy avoided when possible for those with Li-Fraumeni syndrome (LFS). For germline PV carriers in more moderate-risk genes such as PALB2, ATM, and CHEK2, annual breast MRI is recommended and prophylactic mastectomies considered for those with significant family histories. Detection of PVs in cancer susceptibility genes can also lead to recommendations for other prophylactic surgeries (e.g., salpingo-oophorectomy) and increased surveillance for other cancers. Therefore, recognizing when a PV is somatic rather than germline and distinguishing somatic mosaicism from clonal hematopoiesis (CH) is essential. Mutational events that occur at a post-zygotic stage are somatic and will only be present in tissues derived from the mutated cell, characterizing classic mosaicism. Clonal hematopoiesis is a form of mosaicism restricted to the hematopoietic compartment.
Among the genes in multi-gene panels used for germline testing of breast cancer patients, the detection of a PV with low MAF occurs most often in TP53, though has been reported in other breast cancer susceptibility genes. Distinguishing a germline TP53 PV (LFS) from a somatic PV (TP53 mosaicism or CH) has enormous implications for breast cancer patients and their relatives.
We review how to evaluate a PV with low MAF. The identification of the PV in another tissue confirms mosaicism. Older age, exposure to chemotherapy, radiation, and tobacco are known risk factors for CH, as is the absence of a LFS-related cancer in the setting of a TP53 PV with low MAF. The ability to recognize and understand the implications of somatic PVs, including somatic mosaicism and CH, enables optimal personalized care of breast cancer patients.
Background This report describes a cognitive behavioural group intervention for women with mild and borderline intellectual disabilities detained in a secure hospital setting because of their fire-setting behaviour. The study aimed to examine participants' motivations for setting fires, their responses to an intervention designed specifically for this group and to monitor their progress over an extended follow-up period. Methods A number of fire-specific and clinical assessments were administered before the intervention started and immediately after it concluded to examine trends in the group data. Detailed case study material was collected in order to describe participants' engagement in and reactions to the treatment process, and their status at 2-year follow-up.
ResultsThe intervention successfully engaged participants in the therapy process, all of whom completed the programme. Scores on measures related to fire-related treatment targets and clinical measures pertinent to motivations for fire-setting generally improved following the intervention. There were no reports of participants setting any fires 2 years after the intervention programme was completed. Conclusions The group intervention appeared to be acceptable and beneficial to study participants. This pilot study needs to be extended into a more robust evaluation of this approach with this group.
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