Study of Glycine and Folic Acid Supplementation to Ameliorate Transfusion Dependence in Congenital SLC25A38 Mutated Sideroblastic Anemia.

Congenital sideroblastic anemia (CSA) is a hematological disorder characterized by the presence of ringed sideroblasts in bone marrow erythroid precursors. Mutations in the erythroid-specific glycine mitochondrial transporter gene SLC25A38 have been found in a subset of patients with transfusion-dependent congenital CSA. Further studies in a zebrafish model identified a promising ameliorative strategy with combined supplementation with glycine and folate. We tested this combination in three individuals with SLC25A38 CSA, with a primary objective to decrease red blood cell transfusion requirements. No significant impact was observed on transfusion requirements or any hematologic parameters.

Inhibitor development according to concentrate in severe hemophilia: reporting on 1392 Previously Untreated Patients from Europe and Canada.

Background: Clotting factor concentrates have been the mainstay of severe hemophilia treatment over the last 50 years. Differences in risk of neutralizing antibody (inhibitor) formation according to concentrate used remain clinically relevant. Objectives: To assess inhibitor development according to type of clotting factor concentrate in previously untreated patients (PUPs) with severe hemophilia A and B. Methods: The European Haemophilia Safety Surveillance (EUHASS) and Canadian Bleeding Disorders Registry (CBDR) have been monitoring adverse events overall and according to concentrate for 11 and 8 years, respectively. Inhibitors were reported quarterly, and PUPs completed 50 exposure days without inhibitor development annually. Cumulative inhibitor incidences and 95% confidence intervals (CIs) were compared without adjustment for other risk factors. Results: Fifty-six European and 23 Canadian centers reported inhibitor development in 312 of 1219 (26%; CI, 23%-28%) PUPs with severe hemophilia A and 14 of 173 (8%; CI, 5%-13%) PUPs with severe hemophilia B. Inhibitor development was lower on plasma-derived factor (F)VIII (pdFVIII, 20%; CI, 14%-26%) than on standard half-life recombinant FVIII (SHL-rFVIII, 27%; CI, 24%-30% and odds ratio, 0.67; CI, 0.45%-0.98%; P = .04). Extended half-life recombinant FVIII (EHL-rFVIII, 22%; CI, 12%-36%) showed an intermediate inhibitor rate, while inhibitor rates for Advate (26%; CI, 22%-31%) and Kogenate/Helixate (30%; CI, 24%-36%) overlapped. For other SHL-rFVIII concentrates, inhibitor rates varied from 3% to 43%. Inhibitor development was similar for pdFIX (11%; CI, 3%-25%), SHL-rFIX (8%; CI, 3%-15%), and EHL-rFIX (7%; CI, 1%-22%). Conclusion: While confirming expected rates of inhibitors in PUPs, inhibitor development was lower in pdFVIII than in SHL-rFVIII. Preliminary data suggest variation in inhibitor development among different SHL-rFVIII and EHL-rFVIII concentrates.

Supporting Parents' Pain Care Involvement With Their Children With Acute Lymphoblastic Leukemia: A Qualitative Interpretive Description.

Children with acute lymphoblastic leukemia experience pain from the disease, treatment, and procedures. Parents can be effective in managing their child's pain, but little is systematically known about how they do this. Appreciative inquiry was used to frame the study within a strengths-based lens and interpretive descriptive methods were used to describe pain sources, parents' pain care role, and key structures supporting parents pain care involvement. Eight paediatric oncology clinic nurses and 10 parents participated. Six key themes per group were identified. Parent themes included establishing therapeutic relationships, relearning how to care for my child, overcoming challenges and recognizing pain, learning parent specific strategies, empowering to take active pain care role, and maintaining relationships. Nurse themes included establishing therapeutic relationships, preparing parents to care for their child, facilitating pain assessment, teaching parents best pain care, empowering parents, and maintaining relationships. These findings can be used to guide clinical practice and future research.

Maternal coping and adaptation: A case study examination of chronic sorrow in caring for an adolescent with a progressive neurodegenerative disease.

A single case study approach was used to examine the maternal experience of chronic sorrow in caring for an adolescent with a progressive neurodegenerative condition. A family systems model was used to examine maternal coping and adaptation. A diagnosis of a childhood neurodegenerative illness will inevitably result in periods of deterioration, increased physical, financial and health care needs. These periods of increased demands result in a build-up of stressors over time. During these different transitions, maternal coping and adaptation have been recognized as important components that affect the health and well-being of the whole family. McCubbin and Patterson's (1983) Double ABCX model of Adjustment and Adaptation was used to explore ongoing maternal coping and adaptation. By using a strengths-based approach, an advanced practice nurse (APN) was able to validate the maternal experience of chronic sorrow and identify factors influencing maternal coping and adaptation. Despite the emotional response of feeling hopeless and helpless, this mother was able to recognize and talk about her strengths and how they have contributed to the health and well-being of the whole family.