RICTOR variants are associated with neurodevelopmental disorders.

RICTOR is a key component of the mTORC2 signaling complex which is involved in the regulation of cell growth, proliferation and survival. RICTOR is highly expressed in neurons and is necessary for brain development. Here, we report eight unrelated patients presenting with intellectual disability and/or development delay and carrying variants in the RICTOR gene.

Prevalence of abnormal thyroid function test in adults attending primary care setting in the year 2022 in the Kingdom of Bahrain.

Background: Thyroid disease is known to be one of the most common endocrine diseases globally and has serious health implications if left untreated.

Objective: This study aimed to gain a better understanding of common thyroid diseases and to explore the associated risk factors in the Kingdom of Bahrain.

Methods: A case-control study was carried out after obtaining all thyroid stimulating hormone (TSH) results done in a primary healthcare setting from January 1, 2022 to December 31, 2022 from the Health Information Department.

Epidermal maintenance of Langerhans cells relies on autophagy-regulated lipid metabolism.

Macroautophagy (often-named autophagy), a catabolic process involving autophagy-related (Atg) genes, prevents the accumulation of harmful cytoplasmic components and mobilizes energy reserves in long-lived and self-renewing cells. Autophagy deficiency affects antigen presentation in conventional dendritic cells (DCs) without impacting their survival. However, previous studies did not address epidermal Langerhans cells (LCs).

Rethinking Our Approach to Accessibility in the Era of Rapidly Emerging Technologies.

Accessibility has always played catch-up to the detriment of people with disabilities - and this appears to be exacerbated by the rapid advancements in technology. A key question becomes, can we better predict where technology will be in 10 or 20 years and develop a plan to be better positioned to make these new technologies accessible when they make it to market? To attempt to address this question, a "Future of Interface Workshop" was convened in February 2023, chaired by Vinton Cerf and Gregg Vanderheiden that brought together leading researchers in artificial intelligence, brain-computer interfaces, computer vision, and VR/AR/XR, and disability to both a) identify barriers these new technologies might present and how to address them, and b) how these new technologies might be tapped to address current un- or under-addressed problems and populations. This paper provides an overview of the results of the workshop as well as the current version of the R&D Agenda work that was initiated at the conference.