Cytopenia: a report of haplo-cord transplantation in twin brothers caused by a novel germline GATA1 mutation and family survey.

Cytopenia due to the abnormal regulation of GATA1 could manifest as varying degrees of thrombocytopenia and/or anemia and more severely in male children than in female children. Here, we describe the case of pancytopenic and transfusion-dependent twin brothers at our center whose bone marrow puncture revealed low bone marrow hyperplasia. Whole-exome sequencing revealed that the twins had a new germline GATA1 mutation (nm_002049: exon 3:c.515 T >C:p.F172S), which confirmed the diagnosis of GATA1 mutation-related pancytopenia. The mutation was inherited from their mother, who was heterozygous for the mutation. Sanger sequencing verified the pathogenicity of the mutation. Further family morbidity survey confirmed that GATA1 mutation-related pancytopenia is an X-linked recessive genetic disorder. We developed haploid hematopoietic stem cell transplantation programs for twins, with the father as the only donor, and finally, the hematopoietic reconstruction was successful. Although they experienced acute graft-versus-host disease, hemorrhagic cystitis, and a viral infection in the early stage, no abnormal manifestations or transplant-related complications were observed 3 months after transplantation. Through hematopoietic stem cell transplantation technology for one donor and two receptors, we eventually cured the twins. The p.F172S variant in the new germline GATA1 mutation may play an essential role in the pathogenesis of GATA1 mutation-related cytopenia.

Insulin order sets improve glycemic control and processes of care.

OBJECTIVE: The study objective was to evaluate the impact of a standardized preprinted subcutaneous correctional insulin order set on glycemic control, processes of care, and nursing satisfaction. METHODS: This was a controlled before/after, qualitative study using focus group interviews. The intervention group consisted of patients with diabetes who were admitted to the cardiovascular surgery ward. The control group consisted of patients with diabetes who were admitted to the vascular surgery ward. Registered nurses on the cardiovascular surgery floor participated in focus groups and completed surveys. We used a multifaceted intervention including standardized insulin order sheet, educational workshops, verbal and printed reminders, printed enabler, reference sheet, and overnight helpline. Glycemic control and hypoglycemia were assessed through chart review, and nursing satisfaction with the insulin order sets was assessed through surveys and nursing focus groups, performed before and 6 months after implementation of the insulin order set. RESULTS: There was a 39% reduction in proportion of blood glucose>11.0 mmol/L (198 mg/dL) in the intervention group compared with the control group (0.17 vs 0.28, P=.03). The proportion of hypoglycemia (blood glucose<4.0 mmol/L [72 mg/dL]) was no different between the 2 groups. Nurse satisfaction increased significantly (P<.02); order sets were easy to use and improved glycemic control, processes, and efficiency of care, and reduced the number of pages between nursing and medical staff. CONCLUSIONS: Standardized insulin order sets reduced hyperglycemia and improved nursing satisfaction and processes of care. Successful implementation required stakeholder engagement, identification of barriers and facilitators in local practice, and tailoring the intervention to target these factors.

[Analysis of the relationship between pathology and recurrence of primary lacrimal epithelial tumors].

OBJECTIVE: To analyze the relationship between pathology and recurrence of primary lacrimal epithelial tumors. METHODS: 128 cases of primary lacrimal epithelial tumors including benign mixed tumor (74 cases, 57.8%), adenoid cystic carcinoma (22 cases, 17.2%) and malignant mixed tumor (18 cases, 14.1%) were subjected in the study. Pathological features were analyzed and compared with their recurrence. RESULTS: The recurrent rate of benign mixed tumor, adenoid cystic carcinoma and malignant mixed tumor was 23.0%, 18.2% and 27.8%, respectively. The recurrence of benign mixed tumor was statistically related to pathological classification and encapsulates. CONCLUSIONS: Primary lacrimal epithelial tumors show variant types and high recurrent rate. The pathological features were decisive in diagnosis, selection of treatment and the time of follow-up.