Prenatal diagnosis of autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants presented with thick nuchal translucency and cardiac abnormalities.

Noonan syndrome (NS) is a common clinical variable disease characterized by a number of features, mainly including congenital heart defects, short stature, and a variable degree of developmental delay. This disorder is transmitted mostly in an autosomal dominant manner and is genetically heterogeneous. We report three prenatal cases of LZTR1-related recessive NS. One case had a recurrent cystic hygroma at 13 weeks gestation and the pregnancy was terminated. Two cases had an increased nuchal translucency at 12 weeks' gestation, but a normal second trimester ultrasound; both presented with hypertrophic cardiomyopathy in the third trimester. The two infants were diagnosed with NS after birth. All of the three cases had invasive genetic investigations during pregnancy, and trio exome sequencing revealed biallelic likely pathogenic or pathogenic LZTR1 variants in the fetuses. All parents were LZTR1 variant carriers. Our report further strengthens the association of LZTR1 with an autosomal recessive form of NS. The affected fetuses are more likely to have cardiac anomalies. Clarification of molecular diagnosis has important implications in these families because they carry a 25% recurrence risk.

SUCCESSFUL INTERVENTIONS TO IMPROVE EFFICIENCY AND REDUCE PATIENT VISIT DURATION IN A RETINA PRACTICE.

PURPOSE: To reduce the total clinic visit duration among retina providers in an academic ophthalmology department. METHODS: All patient encounters across all providers in the department were analyzed to determine baseline clinic visit duration time, defined as the elapsed time between appointment time and checkout. To increase photography capacity, a major bottleneck identified through root cause analysis, four interventions were implemented: training ophthalmic technicians to perform fundus photography in addition to optical coherence tomographies, relocating photography equipment to be adjacent to examination rooms, procuring three additional Optos widefield retinal photography units, and shifting staff schedules to better align with that of the providers. These interventions were implemented in the clinics of two retina providers. RESULTS: The average baseline visit duration for all patients across all providers was 87 minutes (19,550 patient visits). The previous average visit duration was 80 minutes for Provider 1 (557 patient visits) and 81 minutes for Provider 2 (1,246 patient visits). In the 4 weeks after interventions were implemented, the average visit duration decreased to 60 minutes for Provider 1 and 57 minutes for Provider 2. CONCLUSION: A systematic approach and a multidisciplinary team resulted in targeted, cost-effective interventions that reduced total visit durations.

[Analysis of Iron Stores in the Plateletpheresis Donors].

OBJECTIVE: To understand the iron stores of the plateletpheresis donors, so as to provide some new experimental data for further exploration and more perfect health examination criteria of the plateletpheresis donors. METHODS: A total of 297 plateletheresis donors conformed to standard in October 2018 were selected by the cross sectional study. The related factors affecting iron stores were analyzed; the effect of plateletpheresis times of donation on the levels of the hemoglobin(Hb) and serum ferritin(SF) as well as the iron deficency rate in the blood donors was also analyzed; the iron stores in the blood donors was evaluated. RESULTS: The SF level in plateletpheresis donors negatively correlated with annual plateletphersis times of donation（r=-0.416, P＜0.001）; The SF level decreased with the increase of annual times of donation（P＜0.05）; The iron deficiency rate in plateletpheresis donors showed the increase trend with the increase of annual times of donation. The iron deficiency rate in male and femal with 18-23 times of donation was 12.5%(8/64) and 40%(6/15) respectively. CONCLUSION: The blood center should reduce recruitment frequency and increase the testing of SF for regularly plateletpheresis donors.