Objective To report a family with lipoid proteinosis (LP) from Shandong province and to analyze mutations in the extracellular matrix protein 1 (ECM1) gene in this family.Methods Eight members in a threegeneration family with LP were clinically investigated,and two patients were identified to suffer from LP,including the proband (Ⅲ 1) and her mother (Ⅱ 2).Both of the patients presented with papules on the palpebral margin,short and thick lingual frenum,and hoarseness.Indirect laryngoscopy showed infiltrating and thickening of the vocal cord.Pathological examination of lesions on the palpebral margin and laryngeal mucosa revealed deposits of hyaline-like material in the dermis,which was strongly positive for periodic acid-Schiff (PAS) staining and resistant to diastase digestion.The pathological diagnosis was LP.Blood samples were collected from all the family members and 100 ethnically matched,unrelated and unaffected Chinese human controls followed by DNA extraction.PCR and sequencing were performed to detect the ECM1 gene,and nested PCR followed by agarose gel electrophoresis to analyze mutations in the coding region of the ECM1 gene.Results Both of the two patients were compound heterozygotes.Three missense mutations,incluing p.P169T,p.A44T and p.R392W,were found in the ECM1 gene of the affected mother,with p.P169T in one allele and p.A44T as well as p.R392W in the other.The girl patient inheried the missence mutation p.P169T from her mother and a synonymous mutation c.879G ＞ A from her father (Ⅱ 1).Nested PCR showed that the c.978G ＞ A mutation generated a splice-acceptor site AG,which leaded to a splicing defect.Conclusion A novel synonymous splice-acceptor site mutation c.879G ＞ A in the ECM1 gene is identified in the family with LP.

Objective To analyze the thickness of cornea and corneal epithelium in healthy subjects by optical coherence tomography angiography (OCTA).Methods Totally 100 healthy subjects aged between 20 and 30 years were analyzed by OCTA technique.Using AngioVue OCTA system of retinal imaging mode,and using SSADA algorithm for imaging,the cornea and the corneal epithelium in the central corneal diameter range of 9 mm were measured.The differences of corneal and corneal epithelial thickness in different gender regions were compared.Results In the male and female group,the corneal central total thickness were (559.92 ±33.26) μm and(540.06 ±31.63)μm,and the corneal epithelial thickness were(57.78 ±4.88) μm and(56.88 ±4.57) μm,The total central corneal thickness and central corneal epithelial thickness of the male were greater than those of the female,the difference was statistically significant (t =3.06,2.10;all P ＜ 0.05).The cornea of male was the thickest at S5,S7 and SN9,there were significant differences at S5 and S7 compared with female (t =2.93,2.83;all P ＜ 0.05);The female cornea was the thickest at S5,SN7 and SN9,and the difference was significant at S5 compared with male.The cornea of male subjects was the thinnest at IT,which was statistically significant only at IT5 compared with female subjects in the same area (t =2.02,P ＜ 0.05);The cornea of female subjects was the thinnest at T5,IT7 and T9,which was statistically significant only at T5 and T9 compared with male subjects in the same region (t =2.63,2.20;all P ＜ 0.05);There was significant difference in corneal thickness between male and female at ST (t =3.1 1,2.79,2.33;all P ＜ 0.05).The corneal epithelium was the thickest at IT5,I7,and I9,and the lowest at S5,S7 and S9,and there was no significant difference compared with female in the same region (all P ＞ 0.05).The corneal epithelium of female at the IT5,T7,N9 were the thickest,SN5,S7,S9 were the thinnest;Except for M2 and SN5,there was no significant differences in corneal epithelium between male and female groups (all P ＞ 0.05).Corneal central epithelium accounted for the largest percentage of total corneal thickness,and gradually decreased from inside to outside.Conclusion OCTA can be used to measure the thickness of corneal and corneal epithelial regions.

Performance evaluation of administrative personnel is challenging for performance reform of public hospitals. Constructing a reasonable performance evaluation plan for such personnel is conducive to promoting the high-quality and efficient development of hospitals. Hospital H has been exploring the implementation of performance evaluation reform for administrative personnel since 2019. Firstly, it clarified the responsibilities of various administrative management positions throughout the hospital and adopted the Hay position evaluation method for job value evaluation. Secondly, based on this, a performance evaluation index system covering common indexes, personality indexes, and implicit ability indexes was constructed, and the calculation and distribution methods of performance bonuses were clarified. The development of common indexes was based on the hospital′s " 14th Five Year Plan" , while individual indexes were used as key performance evaluation points of each department formulated according to the hospital′s annual key work breakdowns and the " 14th Five Year Plan" . The implicit ability index was constructed based on the competency model to guide and promote the personal development of employees. Finally, the hospital established a feedback and monitoring mechanism to ensure the steady operation of the performance evaluation plan. Thanks to the performance reform of administrative personnel based on job value evaluation, Hospital H has eliminated the phenomenon of " egalitarianism" in the distribution of administrative personnel performance, played a guiding and motivating role in performance evaluation for employees, and achieved better implementation of the hospital′s strategic goals. This can provide reference for the performance reform of administrative personnel in other medical institutions.

Objective To explore the risk factors of gestational diabetes mellitus and its influence on pregnancy outcome,and to provide guidance for early intervention of gestational diabetes to improve pregnancy outcome in clinic.Methods Totally 159 patients with gestational diabetes mellitus in our hospital from January 2014 to January 2016 as observation group were collected,and at the same time,634 healthy pregnancy women as control group were collected.The risk factors of gestational diabetes mellitus were analyzed by the Logistic regression analysis and comparison of pregnancy outcome between two groups was conducted.Results The patients in the observation group with age ≥ 35 years,overweight or obesity before pregnancy,adverse pregnancy history,family history of diabetes,hypertension and vaginal candida and thyroid peroxidase antibody (TPOAb) compared with the control group,the difference was statistically significant (P ＜ 0.05).Multivariate logistic regression analysis showed that age ≥ 35 years,overweight or obesity before pregnancy,adverse pregnancy history,family history of diabetes,and positive TPOAb were the independent risk factors of gestational diabetes mellitus,OR was 2.441,2.889,1.486,4.879,and 1.323,respectively;the difference was statistically significant (P ＜ 0.05).The incidence of premature rupture of membrane,pregnancy hypertensive disorder,premature birth,polyhydramnios,uterine-incision and postpartum hemorrhage in observation group were higher than those in control group,the difference was statistically significant (P ＜ 0.05).The incidence of giant baby,fetal distress and mild neonatal asphyxia were higher than those in control group,and the difference was statistically significant (P ＜ 0.05).No statistical significance in fetal growth restriction,neonatal malformations between two groups was found (P ＞ 0.05).Conclusions Age ≥35 years,overweight or obesity before pregnancy,adverse pregnancy history,family history of diabetes,and thyroid dysfunction were the independent risk factors of gestational diabetes mellitus,and it has serious effect on pregnancy outcome,so that it should take measures to prevent the independent risk factors.