Therapeutic plasma exchange for exogenous insulin antibody syndrome in combined variable immunodeficiency: a case report.

A 32-year-old male with type I diabetes presented with profound hypoglycemia due to exogenous insulin antibody syndrome in the setting of newly-diagnosed common variable immunodeficiency. Immunomodulatory therapy was not initially effective, but after the initiation of plasma exchange hypoglycemia resolved, and glucose lability improved.

Long-term Results of Spine Stapling for AIS to Skeletal Maturity and Beyond.

BACKGROUND: We looked at long-term follow-up of spine stapling with Nitinol Staples. This was a cohort of all adolescent idiopathic scoliosis (AIS) patients with curves at high risk to progress based on curve magnitude, premenarchal status in all females, failure of brace treatment, and skeletal immaturity. METHODS: This is a single surgeon retrospective review of consecutive AIS patients treated with Nitinol staples for progressive scoliosis. Fourteen patients, 16 curves from 2005 to 2008 were eligible. Minimum curve for stapling was 30 degrees. Standard preoperative, intraoperative, and postoperative data were collected. All patients were followed for a minimum of 36 months and to skeletal maturity. Three groups were: improved (group 1), correction of any amount; minimal progression (group 2), progression ≤10 degrees; and failure (group 3), ≥10 degrees of progression. RESULTS: A total of 13 thoracic curves and 2 compensatory lumbar curves met the inclusion criteria (94%). Average follow-up was 61 months. The mean preoperative main thoracic curve was 35 degrees. All but 1 patients progressed at least 9 degrees in a brace prior to stapling. Females were all premenarchal, 10 patients were Risser 0 and 3 Risser 1. The average number of vertebrae stapled per curve was 6. Group 1 included 6 curves (40%). Group 2, 5 curves (33%). Group 3, 4 curves (27%). Three patients went on to uncomplicated fusion. Final curve measurement at the end of follow-up or before fusion (P=0.0037), curve progression (P≤0.001), and percentage of coronal correction on first postoperative standing radiograph (P=0.042) were the significant differences between groups 1+2 (successful) versus group 3 (failures). In total, 73% of this group either progressed ≤10 degrees or improved. CONCLUSIONS: This is the first study that follows AIS patients treated with spine stapling to skeletal maturity. Staples likely changed natural history in some of our patients. Initial percentage of correction on first standing postoperative PA x-rays was the only predictor of success. Stapling was safe without any long-term complications. LEVEL OF EVIDENCE: Level III-retrospective study.

Linking GATA2 to myeloid dysplasia and complex cytogenetics in adult myelodysplastic neoplasm and acute myeloid leukemia.

ABSTRACT: GATA binding protein 2 (GATA2) is a conserved zinc finger transcription factor that regulates the emergence and maintenance of complex genetic programs driving development and function of hematopoietic stem and progenitor cells (HSPCs). Patients born with monoallelic GATA2 mutations develop myelodysplastic neoplasm (MDS) and acute myeloid leukemia (AML), whereas acquired GATA2 mutations are reported in 3% to 5% of sporadic AML cases. The mechanisms by which aberrant GATA2 activity promotes MDS and AML are incompletely understood. Efforts to understand GATA2 in basic biology and disease will be facilitated by the development of broadly efficacious antibodies recognizing physiologic levels of GATA2 in diverse tissue types and assays. Here, we purified a polyclonal anti-GATA2 antibody and generated multiple highly specific anti-GATA2 monoclonal antibodies, optimized them for immunohistochemistry on patient bone marrow bioosy samples, and analyzed GATA2 expression in adults with healthy bone marrow, MDS, and acute leukemia. In healthy bone marrow, GATA2 was detected in mast cells, subsets of CD34+ HSPCs, E-cadherin-positive erythroid progenitors, and megakaryocytes. In MDS, GATA2 expression correlates with bone marrow blast percentage, positively correlates with myeloid dysplasia and complex cytogenetics, and is a nonindependent negative predictor of overall survival. In acute leukemia, the percent of GATA2+ blasts closely associates with myeloid lineage, whereas a subset of lymphoblastic and undifferentiated leukemias with myeloid features also express GATA2. However, the percent of GATA2+ blasts in AML is highly variable. Elevated GATA2 expression in AML blasts correlates with peripheral neutropenia and complex AML cytogenetics but, unlike in MDS, does not predict survival.

Unsuspected systemic Epstein-Barr virus-positive T-cell lymphoma of childhood diagnosed at autopsy in a potential homicide case.

Systemic Epstein-Barr virus (EBV)-positive T-cell lymphoma of childhood (SETLC) is a rare, rapidly progressive, and often fatal disease of children and young adults characterized by monoclonal expansion of EBV-positive T cells in tissues or peripheral blood following infection with EBV. Its distinction from other EBV-positive T-cell lymphoproliferative disorders with overlapping features can be difficult, and particular diagnostic features may not be manifest until autopsy examination. We present the case of a 10-year-old boy with significant disability due to remote traumatic brain injury following non-accidental head trauma who died unexpectedly at home. Given the history of physical abuse and the potential for homicide charges, significant medicolegal implications arose with this case. Pathologic investigation ultimately revealed conclusive diagnostic features of SETLC including extensive proliferation of EBV-positive T cells in multiple organs. A natural manner of death was confirmed, thereby excluding delayed homicide related to complications of non-accidental head trauma.