Bi-allelic MED16 variants cause a MEDopathy with intellectual disability, motor delay, and craniofacial, cardiac, and limb malformations.

The Mediator complex regulates protein-coding gene transcription by coordinating the interaction of upstream enhancers with the basal transcription machinery at the promoter. Pathogenic variants in Mediator subunits typically lead to neurodevelopmental or neurodegenerative disorders with variable clinical presentations, designated as MEDopathies. Here, we report the identification of 25 individuals from 18 families with bi-allelic MED16 variants who have a multiple congenital anomalies (MCAs)-intellectual disability syndrome.

"I still can't forget those words": mixed methods study of the persisting impact on patients reporting psychosomatic and psychiatric misdiagnoses.

Objectives: This research aimed to improve understanding of persisting impacts of patient-reported psychosomatic and psychiatric misdiagnoses on patients with systemic autoimmune rheumatic diseases (SARDs).

Methods: Mixed methods data from two SARDs cohorts were analysed (N = 1,543 and N = 1,853). Validated instruments and patient-designed questions were used to measure self-reported depression, anxiety and mental wellbeing, in addition to medical relationships and healthcare behaviours.

Sleep in Residential Aged Care: A Secondary Qualitative Analysis of Data from the Australian Royal Commission into Aged Care Quality and Safety.

Background: Sleep is a crucial healing and restorative component of older person care but is often negatively impacted through the effects of institutionalization in residential aged care (RAC). Currently, information about how sleep occurs is limited.

Methods: Through the lens of person-centered care, this study examined submissions to the Australian Royal Commission into Aged Care Quality and Safety.

Schistosomiasis in the Philippines: A Comprehensive Review of Epidemiology and Current Control.

is an infectious parasitic disease caused by infection with the blood fluke , which is endemic in China, small pockets of Indonesia, and the Philippines. Of the three countries, the prevalence of infection is the highest in the Philippines, despite decades of mass drug administration (MDA). As a zoonosis with 46 potential mammalian definitive hosts and a snail intermediate host, the control and eventual elimination of requires management of these animal hosts in addition to new interventions for the human hosts, including health education and water, sanitation, and hygiene (WASH) infrastructure.