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.

[Effects of compound danshen dripping pill on the structure and functions of sternohyoid muscle in metabolic syndrome rats].

OBJECTIVE: To study the effects of Compound Danshen Dripping Pill (CDDP) on the structure and functions of sternohyoid muscle in metabolic syndrome (MS) rats, and to study whether it has therapeutic effects on obstructive sleep apnea-hypopnea syndrome (OSAHS). METHODS: Twenty-one healthy male SD rats were randomly divided into three groups, i.e., the normal control group (n = 6), the MS group (n = 8), and the CDDP group (n = 7). Rats in the normal control group were routinely fed. High lipid forage was given to rats in the rest two groups. Nine weeks later, CDDP (at the dose of 375 mg/kg) was additionally given to rats in the CDDP group by gastrogavage, and then rats in the CDDP group and the MS group were fed with the same high lipid forage for 12 successive weeks. The content of malondialdehyde (MDA) and the activities of superoxide dismutase (SOD) in the sternohyoid muscle were detected in the three groups. The capillary density, capillary-to-fiber ratio (C/F), the section area of type I muscle fiber were detected using myosin-ATPase histochemical assay. The contractile changes of isometric stemohyoid muscles were determined under electric stimulation by different frequencies. RESULTS: The contents of MDA were obviously lower in the CDDP group than in the MS group, while the activities of SOD, the capillary density, C/F, the section area of type I muscle fiber, the tension of stemohyoid muscle at 10 -60 Hz, and the 1-5 min tension percentages of the stemohyoid muscle were higher in the CDDP group than in the MS group (P < 0.05, P < 0.01). CONCLUSION: CDDP could improve oxidative stress induced intramuscularly microcirculation disturbance and changes of muscular fiber structures of the upper airway muscles, and elevate their contractile functions, thus possibly contributing to favorable effects on OSAHS.

[Effects of taurine on alterations in structure and function of sternohyoid muscle in metabolic syndrome rats].

OBJECTIVE: To investigate the alterations in structure and function of sternohyoid muscle of metabolic syndrome (MS) rats effects and the effects of taurine thereupon contractile properties. METHODS: Twenty-one healthy male SD rats were randomly assigned to three groups: control group (Group A, n=6) fed with normal food, MS group (Group B, n=8) fed with high-lipid forage for 9 weeks to induce MS and then fed with the same high-lipid forage for 12 weeks in addition, and taurine group (Group C, n=7), fed with high-lipid forage for 20 weeks and given gastric perfusion of taurine 50 mg x d(-1) x kg(-1) since the tenth week for 12 weeks. Venous blood samples were collected to undergo biochemical examination of plasma total cholesterol (TC), triglyceride (TG), high-density lipoprotein (HDL), low-density lipoprotein (LDL), and glucose (Glu). Radioimmunoassay was used to detect the plasma insulin. The sternohyoid muscles were collected. Muscle tissue homogenate was made. The superoxide dismutase (SOD) and malondialdehy (MDA) levels were measured. Myosin-ATPase histochemistry was used to assay the size and capillary density of the isolated sternohyoid muscles. Isometric contractile properties were determined by electrostimulating the strips of isolated sternohyoid muscles at different frequencies (from 10 Hz to 100 Hz) to observe the changes of the sternohyoid contractile properties in different conditions. RESULTS: (1) The levels of TG, LDL, Glu, PGI, and MDA of Group B were significantly higher than those of Groups A and C, while the HDL level of Group B was significantly lower than that of Group A (P < 0.01). The OD level of Group B was significantly lower than those of Groups A and C. (2) The capillary density, capillary-to-fiber ratio (C/F), and cross-sectional area of type I fiber in sternohyoid muscles of Group B were (140 +/- 5)/ nm2, 0.90 +/- 0.11, and (6119 +/- 165) microm2 respectively, all significantly higher than those of Group A [(278 +/- 17)/mm2, 1.43 +/- 0.05, and (9371 +/- 68) microm2 respectively, all P < 0.01] and Group C [(269 +/- 10)/mm2, 1.40 +/- 0.07, and (9007 +/- 136) microm2 respectively, all P < 0.01]. (3) The tensions of sternohyoid muscle of Group B at the frequencies from 10 Hz to 60 Hz were (29 +/- 6) g/cm2, (34 +/- 7) g/ cm2, (41 +/- 6)g/cm2, (47 +/- 6)g/cm2, (53 +/- 7)g/cm2, and (59 +/- 20)g/cm2 respectively, all significantly lower than those of Group A group[(40 +/- 3)g/cm2, (52 +/- 13)g/cm2, (60 +/- 17) g/cm2, (74 +/- 32) g/cm2, (80 +/- 29)g/cm2, and (96 +/- 24)g/cm2 respectively, all P < 0.05] and Group C [(43 +/- 26)g/cm2, (48 +/- 6)g/cm2,(55 +/- 9)g/cm2, (67 +/- 14)g/cm2, (75 +/- 15)g/cm2, and (80 +/- 15)g/cm2 respectively, all P < 0.05]. (4) In fatigue test, the tension percentages of sternohyoid muscle at the time intervals of 1 min, 2 min, 3 min, 4 min, and 5 min of Group B were (80.5 +/- 8.0)%, (64.1 +/- 1.2)%, (59.1 +/- 1.1)%, (56.4 +/- 10.9)%, and (53.5 +/- 9.1)% respectively, all significantly lower than those of Group A [(87.7 +/- 3.5)%, (78.5 +/- 1.5)%, (76.0 +/- 1.2)%, (72.3 +/- 15.0)%, and (68.7 +/- 17.2)% respectively, all P < 0.05] and Group C group [(87.4 +/- 2.4)%, (77.9 +/- 5.5)%, (73.6 +/- 1.1)%, (71.3 +/- 8.7)%, and (68.0 +/- 6.7) respectively, all P < 0.05]. CONCLUSION: With the development of MS, the capillary density, C/F, cross-sectional area of type I fiber of upper airway muscles decrease, in part via oxidative stress, which leads to reduction of the contractile function of upper airway muscles, thus contributing to the onset of obstructive sleep apnea-hypopnea syndrome.

[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.