Objective To analyze the doctors' working enthusiasm and its influencing factors on county level hospitals.Methods 17 seminars were held in 8 counties of 3 provinces to investigate 1055 doctors with questionnaires, analyzing the three scales of working enthusiasm, working enthusiasm influencing factors, and changes since the 2009 new healthcare reform.Results Working enthusiasm comprises inner drive, working pleasure, work recognition and external recognition, and inner drive of which is found to play the most important part, with 20.55％ variance contribution.Among the six dimensions of the influencing factors, working conditions rank the highest with 19.46％ variance contribution.Conclusion Optimized measures in the healthcare reform, better working conditions and social environment can improve working enthusiasm of these doctors.

OBJECTIVE: To apply combined non-invasive prenatal testing (NIPT), chromosomal karyotyping and chromosomal microarray for the screening and prenatal diagnosis of a fetus with supernumerary small marker chromosome (sSMC). METHODS: Standard NIFTY and full gene NIFTY kits were applied to detect free DNA (cfDNA) isolated from peripheral blood sample of a pregnancy woman. Amniocentesis was carried out for the woman for an abnormal NIPT result. G-banded karyotyping and single nucleotide polymorphism array (SNP array) were used to determine the karyotype and copy number variants in the fetus. The result was validated with a fluorescence in situ hybridization (FISH) assay. RESULTS: Both the standard NIFTY and full gene NIFTY indicated abnormal dup(chr12:707 334-33 308 759), for which the T score value of copy number anomaly in full gene NIFTY is 6.823, which is higher than the standard NIFTY's T-score value of 3.9535. The two NIFTY results were both above the normal threshold ± 3. Conventional G-banding analysis of amniocytes showed that the fetus has a karyotype of 47,XY,+mar. SNP-array delineated duplication of 12p (arr [hg19]12p13.33p11.1 (173 786_34 385 641)× 4, which was verified by FISH. Based on the above results, the fetus was diagnosed as a novel case of Pallister-Killian syndrome. CONCLUSION NIPT has a certain value for the prenatal detection of PKS. Combined use of multiple techniques can facilitate delineation of the source of sSMC.
Chromosome Disorders/genetics* ; Chromosomes, Human, Pair 12/genetics* ; Female ; Humans ; In Situ Hybridization, Fluorescence ; Karyotyping ; Pregnancy

OBJECTIVE: To explore the genetic etiology of a neonate with suggestive features of Cornelia de Lange Syndrome (CdLS). METHODS: Chromosome karyotyping, copy number variation sequencing (CNV-seq) and whole exome sequencing (WES) were carried out for the child. Meanwhile, peripheral venous blood samples were taken from his parents for verifying the suspected pathogenic variants detected in the child. RESULTS: The child has exhibited developmental delay, microcephaly, ptosis, micrognathia, and low ear setting, and was suspected as CdLS. No abnormality was found by karyotyping and CNV-seq analysis. WES has detected 5 heterogeneous variants and 1 hemizygous variant on the X chromosome. Combining the genetic pattern and result of family verification, a hemizygous C.3500T>C (p.ile1167thr) of the SMC1A gene was predicted to underlay the clinical manifestations of the patient. This variant was not recorded in the dbSNP and gnomAD database. PolyPhen2, Provean, SIFT all predicted the variant to be harmful, and PhastCons conservative prediction is was a conservative mutation. ACMG variant classification standard evidence supports are PM2, PP2, and PP3. CONCLUSION The novel c.3500T>C (p.Ile1167Thr) missense mutation of the SMC1A gene probably underlay the genetic etiology of CdLS in this child. Above results has enriched the mutation spectrum of CdLS type II, and facilitated clinical counseling for this family.
Cell Cycle Proteins/genetics* ; Child ; DNA Copy Number Variations ; De Lange Syndrome/genetics* ; Humans ; Infant, Newborn ; Mutation ; Phenotype ; Whole Exome Sequencing

Through the systematic analysis on the primo vascular system (PVS) in recent years, we believe that in recent years, more and more studies have indicated that PVS is distributed in reticulate structure in every part of body, such as vessels, lymphangions, nerves, brain, spinal cords and internal organs, and it contains a large amount of immunocytes and has involved in the physiological or pathological process of the immunity and circulation in the body. There are the evidences to prove that in morphology and cytobiology. But, nowadays, there is no way to explain its effect characters. On the basis of the study on living matter characteristics, a breakthrough is possibly made through the systematic cooperation even though it is the difficulty to detect the life function effect. It is especially displayed in the substantial study on meridian points. Hence, the study on the law of meridian point effects on the basis of clinical practice has to be focused on in the substantial study on meridian points.