mutation in a child with refractory macrocytic anemia and Down Syndrome.

Here we report a case of refractory macrocytic anemia with a spliceosomal point mutation involving the gene in a child with Down syndrome (DS). Such mutations have been shown to cause refractory macrocytic anemia and myelodysplastic syndrome (MDS) in elderly individuals. We report the hematological indices of a child with DS and a spliceosomal mutation.

Accuracy and Precision of the SynchroMed II Pump.

Objective: The objective of this study was to evaluate the accuracy and precision of SynchroMed II programmable infusion pumps for delivery of intrathecal baclofen to treat severe spasticity.

Design: Retrospective chart review study.

Setting: Urban academic rehabilitation clinic.

Live-cell fluorescence imaging: assessment of thioflavin T uptake in human epidermal carcinoma cells.

Thioflavin T (ThT), a positively charged heterocyclic small molecule, is a widely used fluorescent marker of amyloid pathophysiology to confirm the cause of death in brain tissue of Alzheimer's disease (AD) patients. Literature precedents indicate that current positron emission tomography (PET) agents, such as C-PIB and F-flutemetamol, share significant structural similarity with ThT, a lipophilic dye which does not traverse the blood-brain barrier (BBB) to enable the detection of Aβ plaques . While vital for maintaining normal physiology and healthy brain function, the BBB comprises brain endothelial cells sealed paracellular protein complexes, bound by an extracellular matrix forming tight junctions thus controlling the delivery of molecules into the brain.