Tube feeding in advanced dementia: Insights from South African speech-language therapists.

Background:  Speech-language therapists (SLTs) may recommend tube feeding even with minimal research evidence of its effectiveness, and an understanding of SLTs' perceived practices is warranted.

Objectives:  To qualitatively describe a sample of South African SLTs' perceived practices regarding feeding tube placement in people with advanced dementia.

Method:  Semi-structured online interviews were conducted via Microsoft Teams.

Cardiac Amyloidosis: A Rare TTR Mutation Found in an Asian Female.

Background: Transthyretin cardiac amyloidosis (ATTR) is a life-threatening, debilitating disease caused by abnormal formation and deposit of transthyretin (TTR) protein in multiple tissues, including myocardial extracellular matrix. It can be challenging to diagnose due to the myriad of presenting signs and symptoms. Additionally, numerous TTR mutations exist in certain ethnicities.

Biallelic DNAJC3 variants in a neuroendocrine developmental disorder with insulin dysregulation.

DNAJC3, a co-chaperone of BiP, is a member of the heat shock protein family. These proteins are produced in the endoplasmic reticulum (ER) to counter cell stress resulting from healthy functional protein processing. Dysregulation of unfolded proteins within the ER is implicated as a mechanism of genetic disease.

Adapting Scoring Based Classification to Simplify and Automate Phenotype Creation for Cohort Identification in Clinical Data.

EHR-based phenotype development and validation are extremely time-consuming and have considerable monetary cost. The creation of a phenotype currently requires clinical experts and experts in the data to be queried. The new approach presented here demonstrates a computational alternative to the classification of patient cohorts based on automatic weighting of ICD codes.