Congenital dyserythropoietic anemia type I: First report from the Congenital Dyserythropoietic Anemia Registry of North America (CDAR).

Congenital dyserythropoietic anemias (CDAs) are characterized by ineffective erythropoiesis and distinctive erythroblast abnormalities; the diagnosis is often missed or delayed due to significant phenotypic heterogeneity. We established the CDA Registry of North America (CDAR) to study the natural history of CDA and create a biorepository to investigate the pathobiology of this heterogeneous disease. Seven of 47 patients enrolled so far in CDAR have CDA-I due to biallelic CDAN1 mutations. They all presented with perinatal anemia and required transfusions during infancy. Anemia spontaneously improved during infancy in three patients; two became transfusion-independent rapidly after starting interferon-α2; and two remain transfusion-dependent at last follow-up at ages 5 and 30 y.o. One of the transfusion-dependent patients underwent splenectomy at 11 y.o due to misdiagnosis and returned to medical attention at 27 y.o with severe hemolytic anemia and pulmonary hypertension. All patients developed iron overload even without transfusions; four were treated with chelation. Genetic testing allowed for more rapid and accurate diagnosis; the median age of confirmed diagnosis in our cohort was 3 y.o compared to 17.3 y.o historically. In conclusion, CDAR provides an organized research network for multidisciplinary clinical and research collaboration to conduct natural history and biologic studies in CDA.

Erratum: Deficiency of complement factor H-related proteins and autoantibody-positive hemolytic uremic syndrome in an infant with combined partial deficiencies and autoantibodies to complement factor H and ADAMTS13.

[This corrects the article DOI: 10.1093/ckj/sfy010.].

Enhancing the Educational Value and Faculty Attendance of a Morbidity and Mortality Conference.

OBJECTIVE: There exists significant variation in the approach to and execution of morbidity and mortality conference (M&MC). Faculty attendance remains a working challenge. We sought to change our department's M&MC and hypothesized improved educational value and attendance. DESIGN: Complications were submitted in Clavien-Dindo format. A designated M&MC moderator facilitated discussion. A teaching point (TP) was assigned to each complication intended to be the focus of discussion. Presentations followed a structured 6-slide PowerPoint template. A web-based tool using Google Forms was developed and distributed as an "App" for tracking of attendance. An anonymous online survey was distributed to participants to elucidate perception of M&MC following the intervention. SETTING: Academic medical center. PARTICIPANTS: Postgraduate year-1 to 5 surgery residents and faculty at West Virginia University, Morgantown. RESULTS: Forty-eight of sixty-three surveys were returned (response rate 76%). Twenty-five faculty (70%) and 23 residents (82%) responded. A predetermined TP was viewed as the most favorable change made by both faculty and residents. 65% of faculty and residents acknowledged improved educational value, 58% found a single moderator to help streamline Morbidity and Mortality (M&M) presentations and 71% felt that a standard PowerPoint template improved quality of presentations. Both residents (96%) and faculty (68%) believed a predetermined TP improved the educational value of the conference and medical knowledge during preparation. More residents (43%) than faculty (16%) believed that changes to the department's M&MC format allowed better identification of quality improvement issues. Furthermore, the majority of residents (83%) believed that changes to the department's M&M format allowed better identification of system factors compared to faculty (32%), p = 0.003. Faculty participation increased from 60% to 80% after changes (p = 0.03). CONCLUSIONS: The educational value of M&MC and attendance can be improved with simple changes, but faculty and residents may have different expectations and perceptions.

Deficiency of complement factor H-related proteins and autoantibody-positive hemolytic uremic syndrome in an infant with combined partial deficiencies and autoantibodies to complement factor H and ADAMTS13.

A 3-month-old male infant developed an extremely severe episode of atypical hemolytic uremic syndrome (aHUS) associated with partial deficiencies of full-length complement factor H (FH; ∼15% of infant normal) and a disintegrin and metalloproteinase with a thrombospondin type 1 motif, member 13 (ADAMTS13) (39% of normal) and autoantibodies reactive with both proteins. His FH and ADAMTS13 genes were normal, indicating that the partial deficiencies were acquired, probably as the result of autoantibodies against full-length FH and ADAMTS13. The child also had a homozygous deletion of the complement factor H-related (CFHR)3-CFHR1 portion in the complement factor H (CFH) gene cluster. He therefore had deficiency of CFHR proteins and autoantibody-positive hemolytic uremic syndrome (DEAP-HUS) with an unusual early onset associated with a partial deficiency of ADAMTS13 and an anti-ADAMTS13 autoantibody. His clinical episode of aHUS responded to plasma infusion and subsequent treatment with mycophenolate and rituximab. We believe that this is the first report of DEAP-HUS in an infant with partial deficiencies in both ADAMTS13 and full-length FH acquired in association with autoantibodies to both proteins.

Clofarabine salvage therapy in refractory multifocal histiocytic disorders, including Langerhans cell histiocytosis, juvenile xanthogranuloma and Rosai-Dorfman disease.

BACKGROUND: Existing therapies for recurrent or refractory histiocytoses, including Langerhans cell histiocytosis (LCH), juvenile xanthogranuloma (JXG), and Rosai-Dorfman disease (RDD), have limited effectiveness. We report our experience with using clofarabine as therapy in children with recurrent or refractory histiocytic disorders, including LCH (11 patients), systemic JXG (4 patients), and RDD (3 patients). METHODS: Patients treated with clofarabine for LCH, JXG, or RDD by Texas Children's Hospital physicians or collaborators between May 2011 and January 2013 were reviewed for response and toxicity. RESULTS: Patients were treated with a median of three chemotherapeutic regimens prior to clofarabine. Clofarabine was typically administered at 25 mg/m(2) /day for 5 days. Cycles were administered every 28 days for a median of six cycles (range: 2-8 cycles). Seventeen of 18 patients are alive. All surviving patients showed demonstrable improvement after two to four cycles of therapy, with 11 (61%) complete responses, 4 (22%) partial responses, and 2 patients still receiving therapy. Five patients experienced disease recurrence, but three of these subsequently achieved complete remission. All patients with JXG and RDD had complete or partial response at conclusion of therapy. Side effects included neutropenia in all patients. Recurring but sporadic toxicities included prolonged neutropenia, severe vomiting, and bacterial infections. CONCLUSION: Clofarabine has activity against LCH, JXG, and RDD in heavily pretreated patients, but prospective multi-center trials are warranted to determine long-term efficacy, optimal dosing, and late toxicity of clofarabine in this population.

A team approach in communication instruction: a qualitative description.

OBJECTIVE: To establish communication instructional goals and objectives (IGOs) adapted to a postgraduate surgical residency program. DESIGN: The curriculum that was tested in the current study is predicated on the following concepts: Leadership is a communication skill, not a medical skill; perception and interpretation are individual events and always will be imperfect; team is a relational-based concept, not a medical one; the concept of a perfect world is unrealistic and should not be the focus of any communication skills training; and change cannot occur locally if it is not nurtured globally. RESULTS: A communication curriculum designed to teach "affirming communication" as well as to focus on how acquiring the knowledge and skill associated with competent communication can result in positive organizational and clinical outcomes were tested using subjects from a rural trauma network. Statistically significant findings were observed regarding knowledge acquisition as well as perceptions and attitudes toward communication. CONCLUSION: Any communication curriculum designed to educate needs to be grounded theoretically in both communication and medicine. Personnel from both disciplines need to be consulted in efforts to design a curriculum based in the social sciences yet applicable to surgery.