Chronic granulomatous disease and McLeod syndrome: Stem cell transplant and transfusion support in a 2-year-old patient-a case report.

Chronic granulomatous disease (CGD) with McLeod neuroacanthocytosis syndrome (MLS) is a contiguous gene deletion disorder characterized by defective phagocytic function and decreased Kell antigen expression. CGD cure is achieved through hematopoietic stem cell transplant (HSCT) usually in the peri-pubescent years. The presence of MLS makes peri-transfusion support complex, however. Herein, we present the youngest known case of HSCT for CGD in the setting of MLS. A 2-year-old male patient was diagnosed with CGD plus MLS. Due to the severity of the child's systemic fungal infection at diagnosis, HSCT was deemed the best treatment option despite his small size and age. A related, matched donor was available, and a unique red blood cell support plan had been implemented. Reduced-intensity conditioning was used to reduce the transplant-related mortality risk associated with myeloablative protocols. The transplant course was uneventful; autologous red blood cell (RBC) transfusion support was successful and allowed for the avoidance of possible antibody formation if allogeneic units had been used. The patient achieved 1-year relapse-free survival. The developed protocols provide a viable path to transplant in the very young, and early transplant to cure could reduce disease-related morbidity.

Cryopreservation of rare pediatric red blood cells for support following bone marrow transplant.

BACKGROUND: A 2-year-old, 10.8 kg male pediatric patient with X-linked chronic granulomatous disease (CGD) with McLeod syndrome (MLS) was scheduled for a hematopoietic stem cell transplant (HSCT). Identification of allogenic red blood cells (RBC) for post-transplant support was unsuccessful prompting the development of a customized method to collect and freeze rare autologous pediatric cells. STUDY DESIGN AND METHODS: A protocol was developed for the collection of small volume pediatric whole blood (WB) via peripheral venipuncture with collection into 10 ml syringes containing anticoagulants. Additionally, a closed system RBC glycerolization and deglycerolization instrument was adapted to process small volume, non-leukoreduced WB. Both collection and WB processes were validated. In total 4 approximately 100 ml autologous units were collected and frozen. Two units were thawed, deglycerolized, and used for clinical transfusion support. To appreciate processing impacts on RBC rigidity, ektacytometry was performed on pre-processed and post-deglycerolization samples. RESULTS: Free hemoglobin (HGB) of validation units after thawing/deglycerolization was <150 mg/dL with an average red cell recovery of 85%. These units also showed little difference between pre-and post-processing Lorrca deformability curves or membrane rigidity. Two pediatric units were thawed and deglycerolized for transfusion. Free HGB was 70 mg/dL and 50 mg/dL post-thaw, and these RBCs had a slight decrease in deformability and increased membrane rigidity. DISCUSSION: Customized WB collection, glycerolization, freezing, and deglycerolization processes were developed to successfully support a pediatric patient with CGD and MLS after autologous HSCT. Both pediatric units showed increased membrane rigidity post-deglycerolization which may be a consequence of the CGD and MLS genetic background.

Randomized trial of a brief peer support intervention for individuals with schizophrenia transitioning from hospital to community.

This phase 2 randomized trial examined the outcomes of a brief, transitional, peer support intervention designed to address the poor outcomes that are common for individuals with schizophrenia spectrum illnesses in the period immediately following hospitalization. In the context of treatment-as-usual, participants were provided with a peer support intervention, 'the Welcome Basket,' in which participants received 1-2 sessions of peer support in the two weeks before discharge and met weekly for a month post-discharge. The study also piloted a brief version of this intervention with only one community session post-discharge with the same pre-discharge process. It was hypothesized that the full intervention would improve community transition outcomes, with community functioning (Multnomah Community Ability Scale) being the primary measure and secondary measures including symptomatology, community integration, personal recovery, quality of life, and social support. The examination of the brief intervention was exploratory. Measures were completed at baseline, 1-month post-discharge, and follow-up at 6 months. A total of 110 participants were randomized to one of three interventions, with outcome data obtained from 82 and follow-up from 74. While feasible, we did not find that the Welcome Basket intervention was superior to treatment as usual for any of our primary or secondary outcome measures. Future work is needed to determine whether a more extended intervention is required and whether specific subgroups of patients may benefit (e.g. those without access to immediate psychiatric care or those better able to engage with a peer).

The welcome basket revisited: Testing the feasibility of a brief peer support intervention to facilitate transition from hospital to community.

OBJECTIVE: This paper describes outcome and feasibility findings for a novel, brief intervention to facilitate discharge from lengthy psychiatric hospitalization. The examination of such transitional interventions is important given the suboptimal outcomes for many individuals with severe mental illness at discharge, particularly in the first month. METHOD: In this study a mixed methods design was used to examine a 6-week peer support worker-provided transitional intervention called the 'Welcome Basket.' The intervention involves contact on hospital wards immediately prior to discharge and 1-1 community contacts along with the provision of a 'welcome basket' of needed/desired items and environmental supports to facilitate greater independence and illness self-management. The study took place in a large Canadian city. RESULTS: Thirty-one individuals with severe mental illness were referred and 23 completed the intervention. Pre-post analysis indicated no change in psychiatric symptoms but improvement in community functioning, community integration, and quality of life. Compared with mean rehospitalization rates for referring inpatient units, significant differences in rates for the study participants were not observed. Qualitative feasibility and process findings were very positive and suggested domains for improvement. CONCLUSIONS AND IMPLICATIONS FOR PRACTICE: These findings suggest that this brief transitional intervention is feasible and promising, although further investigation is warranted. Study findings also support the need for transitional interventions to address the service disconnects at the time of discharge for people with severe mental illness. (PsycINFO Database Record