Rare Care - Cross-Sector Care Coordination.

Rare and undiagnosed diseases collectively represent a global health priority, presenting distinct challenges for healthcare systems due to their low prevalence, cumulative frequency, and complex care requirements. The impact of rare and undiagnosed diseases on children and their families extends beyond physical and mental health, affecting every aspect of their lives. This paper outlines the development of an innovative Model of Care that emphasises cross-sector care coordination as an approach to enhance the health and well-being of Western Australian children living with rare and undiagnosed diseases.

A Rare Case of Erythromycin-Induced Rhabdomyolysis.

Rhabdomyolysis (RML) arises from the breakdown of muscle tissue, leading to the release of intracellular components into the bloodstream and potentially causing multi-organ failure. Multiple drugs have been reported to cause RML. We present here a rare instance of erythromycin-triggered RML in a patient who was not on any other potential RML-inducing medications.

Child-report food insecurity assessment measures: a scoping review.

Background: Experiences of household food insecurity are associated with a wide range of deleterious nutritional, developmental, psychological and social consequences for children. Children's distinct experiences of food insecurity, compared to adults, have been identified in diverse economic and cultural contexts. Yet historically, measurement of food insecurity in children has been predominantly reported by adult respondents on behalf of children, potentially underestimating prevalence and neglecting their unique perspectives.

Prognostic, biological, and structural implications of FLT3-JMD point mutations in acute myeloid leukemia: an analysis of Alliance studies.

The FLT3 gene frequently undergoes mutations in acute myeloid leukemia (AML), with internal tandem duplications (ITD) and tyrosine kinase domain (TKD) point mutations (PMs) being most common. Recently, PMs and deletions in the FLT3 juxtamembrane domain (JMD) have been identified, but their biological and clinical significance remains poorly understood. We analyzed 1660 patients with de novo AML and found FLT3-JMD mutations, mostly PMs, in 2% of the patients.

Cross-sectional and prognostic associations of baseline [F]GTP1 tau PET signal and white matter lesion volumes for cognitive and functional decline in prodromal-to-mild Alzheimer's disease.

Background: In Alzheimer's disease (AD), tau and white matter lesion pathology are associated with clinical severity and subsequent decline, but their relative relationships with clinical assessments remain uncertain.

Objective: To examine cross-sectional and prognostic associations between baseline [F]GTP1 tau positron emission tomography (PET) standardized uptake value ratio (SUVRs) and T1 white matter hypointensity (WMHypo) volumes with clinical indices.

Methods: We analyzed participants with biomarker-confirmed prodromal (n = 127) or mild (n = 233) AD with baseline [F]GTP1 tau PET and MRI and longitudinal Clinical Dementia Rating-Sum of Boxes (CDR-SB), 13-item version of the Alzheimer's Disease Assessment Scale-Cognitive Subscale (ADAS-Cog13), Repeatable Battery for the Assessment of Neuropsychological Status (RBANS), Mini-Mental Status Examination (MMSE), and Alzheimer's Disease Cooperative Study-Activities of Daily Living (ADCS-ADL) data.