De novo variants in LRRC8C resulting in constitutive channel activation cause a human multisystem disorder.

Volume-regulated anion channels (VRACs) are multimeric proteins composed of different paralogs of the LRRC8 family. They are activated in response to hypotonic swelling, but little is known about their specific functions. We studied two human individuals with the same congenital syndrome affecting blood vessels, brain, eyes, and bones.

"Us versus Them": is the voice of the community heard when planning communication screening programmes for preschoolers?

Objectives: Community consultation is necessary to ensure the uptake and use of community-based screening intervention to detect early childhood disabilities, as its absence can result in poor service acceptance and usage. To document stakeholders' perspectives regarding planning a community-based communication disorder (an impairment in the ability to receive, send, process and comprehend concepts or verbal, non-verbal and graphic symbol systems) screening programmes for pre-schoolers.

Study Design: This qualitative research design used purposive and random sampling to recruit 46 participants from eThekwini Municipality, South Africa.

Audiological profile of patients with type 2 diabetes mellitus.

Background:  South Africa shows a high prevalence of type 2 diabetes with reported association with auditory dysfunction.

Objectives:  To describe the audiological profile of adults with this metabolic condition.

Method:  Employing a descriptive research design, 35 individuals with type 2 diabetes, selected through purposive sampling, underwent a basic audiological assessment in addition to extended high-frequency (EHF) audiometry, distortion product otoacoustic emissions (DPOAE) testing and neurological auditory brainstem response (ABR) test.