ZRSR2 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 ZRSR2 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 ZRSR2 spliceosomal mutation. DS is known to produce macrocytic anemia but does not lead to transfusion dependence. In this case, the ZRSR2 mutation was the likely implicating factor for severe transfusion-dependent anemia in a child with DS. The clinical implication of a ZRSR2 mutation in a child with DS has not been previously described and warrants close surveillance to detect potential insidious transformation to MDS.

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. PATIENTS (OR PARTICIPANTS): Patients with spasticity treated with intrathecal baclofen. METHODS OR INTERVENTIONS (OR ASSESSMENT OF RISK FACTORS): A retrospective chart review of 149 patients inclusive of 755 individual patient encounters more than a 2.5-year span for baclofen pump refills was performed. MAIN OUTCOME MEASUREMENTS: Charts were reviewed to obtain data on the concentration and dose of intrathecal baclofen, aspirated and residual volumes, age of the pump, and reservoir volume of the pump. Flow rate (mL/day) was calculated for each chronological visit. Flow rates from clinical data were used to calculate the accuracy and precision based on the manufacturer's specifications for both the 20 mL and 40 mL pumps. RESULTS: The infused volume accuracy and precision of both the 20 mL pumps and 40 mL pumps remained within manufacturer's specifications while delivering drug at a rate slightly lower than predicted. There were no cases of pump over-infusion. There is a statistically significant decrease in flow rate accuracy over the lifespan of the pump. CONCLUSIONS: SynchroMed II pumps infuse at slightly less than their predicted rate while remaining within the manufacturer's specifications. No pump over-infusions were noted. Pump flow rate declines over time. Further study is warranted to assess the impact of this flow rate decrease on patient treatment and safety.