'It Feels Very Weird and Normal at the Same Time': Sibling Perceptions of Their Relationships With an Autistic Brother or Sister With Complex Care Needs.

Background: The impact of having a disabled brother or sister on siblings' psychological well-being and sibling relationships has been the subject of several research studies. However, research which focuses on the relationship between siblings and their autistic brother or sister with an intellectual disability and complex care needs is rare. We explored siblings' views and experiences of their sibling relationship with their autistic brother or sister with complex care needs.

Successful Use of a Midline Catheter for Leukapheresis in Patients Undergoing Collection for Immune Effector Cell Therapy, Donor Lymphocyte Infusion, and Hematopoietic Progenitor Cell Collection.

Apheresis is essential to conducting hematopoietic cell transplantation and genetically engineered cellular therapy procedures. Many patients and donors require central venous catheter (CVC) access for apheresis due to lack of adequate peripheral venous access. CVC placement has risks of associated complications and requires additional institutional resources and expertise.

Mutations to transcription factor MAX allosterically increase DNA selectivity by altering folding and binding pathways.

Understanding how proteins discriminate between preferred and non-preferred ligands ('selectivity') is essential for predicting biological function and a central goal of protein engineering efforts, yet the biophysical mechanisms underpinning selectivity remain poorly understood. Towards this end, we study how variants of the promiscuous transcription factor (TF) MAX (H. sapiens) alter DNA specificity and selectivity, yielding >1700 Ks and >500 rate constants in complex with multiple DNA sequences.

Wellbeing of Family Carers of Adults With Intellectual Disabilities During the COVID-19 Pandemic in the UK: Longitudinal Study.

Background: Longitudinal studies of family carers of people with intellectual disabilities during the COVID-19 pandemic have been very rare. This study investigated trajectories of family-carer wellbeing and the impact of the caring role on carers' health over four time points measured during the COVID-19 pandemic and after all public health restrictions had been lifted (between December 2020 and late 2022) across the United Kingdom.

Methods: Family carers of adults with intellectual disabilities participated through a co-designed, online survey at four time points across the pandemic (2020-2022).

HGVS Nomenclature 2024: improvements to community engagement, usability, and computability.

Background: The Human Genome Variation Society (HGVS) Nomenclature is the global standard for describing and communicating variants in DNA, RNA, and protein sequences in clinical and research genomics. This manuscript details recent updates to the HGVS Nomenclature, highlighting improvements in governance, community engagement, website functionality, and underlying implementation of the standard.

Methods: The HGVS Variant Nomenclature Committee (HVNC) now operates under the Human Genome Organization (HUGO), facilitating broader community feedback and collaboration with related standards organizations.