OBJECTIVE To investigate the standard prevention ability of medical staff in a certain hospital. METHODS The questionnaire was designed by ourselves to investigate the knowledge of medical staff about the standard prevention. RESULTS Total questionnaires were 272,from them 250 were taken back.Rate of recovery was 91.9 %.Average rate to be aware of the knowledge about the standard prevention among medical staff was 65.2%.Aware rate of nurses was uppermost,79.7%.Next was doctors,59.5%.Rate of medical technicians was lowermost,42.8%. CONCLUSIONS Each standard prevention system should be established in hospital.Medical professionl safety education should be enhanced.The standard prevention ability of medical staff should be improved.

OBJECTIVE To investigate the hospital infection monitoring and management in delivery room.METHODS A perfect management and surveillance system was established and carried out strictly.RESULTS We executed disinfection and isolation system strictly through rationalizing the layout of delivery room.The infection management work of delivery room marched into systematization and standardization.CONCLUSIONS Only when the delivery room infection management is strengthened can obstetrics quality be guaranteed to attain a designated standard.Safety of mother and infant can be ensured.The hospital′s social efficiency is increased.

OBJECTIVE To comprehend characteristics and risk factors of lower respiratory tract infection after tracheotomy.METHODS Lower respiratory tract infection condition of 60 cases with tracheotomy was investigated.Risk factors were analyzed.RESULTS The prevalence of nosocomial infection was 93.3%,mainly lower respiratory tract infection(82.1%).The most common pathogens were Gram-negative bacilli.This group of patients had the seriously underlying diseases.In the treatment they carried on the trachea intubation,the tracheotomy,oxygen inhalation,sputum aspiration,atomization and so on.The time the tracheotomy and days in hospital be longer,the lower respiratory tract infection be higher.CONCLUSIONS The trachea intubation,the tracheotomy,the time of tracheotomy and the longer days in hospital may be the risk factors which can cause the lower respiratory tract infection.

OBJECTIVETo explore the origin of a supernumerary small marker chromosome (sSMC) in a fetus, and to assess the feasibility of single nucleotide polymorphism array (SNP-array) for prenatal diagnosis.

METHODSThe fetal sample was subjected to karyotyping analysis. The identified sSMC was subjected to genome-wide scan using a SNP microarray chip. The results were validated with fluorescence in situ hybridization (FISH).

RESULTSThe karyotype of the fetus was determined as 47,XX,+mar, which was verified by SNP microarray chip analysis as a 34.6 Mb duplication in 12p13.33p11.1. FISH analysis confirmed that the sSMC has originated from chromosome 12p.

CONCLUSIONThe karyotype of the fetus was determined as 47,XX,+i(12)(p10). Tetrasomy 12p is reported to be a marker for Pallister-Killian syndrome, which may result in multi-system anomalies. SNP-array analysis can simultaneously detect microdeletions and microduplications, which may be used for prenatal diagnosis of suspected cases.

Adult ; Chromosome Aberrations ; Chromosome Banding ; Chromosome Disorders ; diagnostic imaging ; embryology ; genetics ; Chromosomes, Human, Pair 12 ; genetics ; Female ; Fetus ; abnormalities ; diagnostic imaging ; metabolism ; Genome-Wide Association Study ; methods ; Humans ; In Situ Hybridization, Fluorescence ; Karyotype ; Karyotyping ; Oligonucleotide Array Sequence Analysis ; methods ; Polymorphism, Single Nucleotide ; Pregnancy ; Ultrasonography, Prenatal ; methods

OBJECTIVE: To explore the molecular basis for an individual with postnatal deafness and provide genetic counseling for her family. METHODS: Following extraction of genomic DNA from peripheral blood samples, 127 genes associated with deafness were subjected to targeted capturing and next generation sequencing. Suspected mutation was verified by Sanger sequencing. RESULTS: The proband was found to carry a homozygous c.1893C>A mutation in the TECTA gene, which is located in the tectorial membrane of inner ear and may cause premature termination of translation of TECTA protein. In addition, two heterozygous mutations, c.13010C>T and c.12790G>A, were found in the USH2A gene. Whilst the former is likely to be pathogenic, the latter has unknown clinical significance. Further analysis suggested that all three mutations have derived from the parents of the proband. CONCLUSION The homozygous c.1893C>A mutation of the TECTA gene probably underlies the proband's hearing loss which conformed to an autosomal recessive inheritance.
Deafness ; Extracellular Matrix Proteins ; genetics ; Female ; GPI-Linked Proteins ; genetics ; High-Throughput Nucleotide Sequencing ; Homozygote ; Humans ; Mutation ; Pedigree

One of the main mechanisms of tumorigenesis and development is silencing of the patient's immune response to cancer-specific antigens.The defect of cancer immune surveillance may occur at any stage of tumor progression.In the tumor micro-environment,the abnormal expression of the immune checkpoint molecules that have an activation or inhibition effect on T lymphocytes can cause immune tolerance or escape of tumor cells.Targeted immune checkpoint molecules such as PD-1(programmed cell death protein 1)and its ligand PD-L1,have been shown to be new directions for the treatment of many types of cancer.microRNAs(miR-NAs)play an important role in tumor microenvironment.Studies have shown that miRNAs are highly expressed in some tumors and play an important role in immune response,especially in early regulation.Therefore,miRNAs may be ideal candidates for the regula-tion of immune checkpoints in cancer therapy.The abnormal expression of multiple miRNAs in cancer cells provides new opportunities for cancer therapy,but the exact function of these miRNAs and their interaction with immune checkpoints are still in the exploratory phase.This review summarizes the recent findings regarding the use of miRNAs as molecular regulators of immune checkpoints and their potential applications in the treatment of cancer in clinical practice.

OBJECTIVETo explore the genetic causes for a child with multiple congenital malformations and epilepsy through analysis of copy number variations, and to correlate the genotype with the phenotype.

METHODSG-banding karyotyping was performed on the child and her parents. Single nucleotide polymorphisms array (SNP-array) was used to map the exact chromosomal breakpoints in the proband. The result was validated with fluorescence in situ hybridization (FISH).

RESULTSG banding analysis suggested that the proband had a karyotype of 46,XX,del(4)(p15), while both of his parents had a normal karyotype. SNP-array has identified a hemizygous deletion of 13.3 Mb on chromosome 4p16.3p15.33, which has been implicated in Wolf-Hirschhorn syndrome. FISH assay has confirmed the de novo origin of the deletion, with the karyotype and clinical phenotype of both parents taken into consideration.

CONCLUSIONA case of Wolf-Hirschhorn syndrome has been diagnosed by clinical manifestation and karyotyping analysis. Compared with conventional karyotyping analysis, SNP-array has greater resolution and accuracy, and can provide useful information for genetic counseling.

Chromosome Banding ; Female ; Humans ; In Situ Hybridization, Fluorescence ; Infant, Newborn ; Karyotyping ; Oligonucleotide Array Sequence Analysis ; Polymorphism, Single Nucleotide ; Wolf-Hirschhorn Syndrome ; genetics

OBJECTIVETo explore the genetic cause for a child with mental retardation, developmental delay and multi-systemic developmental disorders by analyzing the copy number variations (CNVs) and correlating the genotype with the phenotype.

METHODSRoutine G-banding was performed to analyze the karyotype of the patient and her parents. In addition, single nucleotide polymorphisms array (SNP-array) was used to determine the CNVs, which was confirmed by fluorescence in situ hybridization (FISH).

RESULTSNo karyotypic abnormality was detected upon chromosome analysis. However, SNP-array has identified a de novo hemizygous deletion of 1673 kb on chromosome region 7q11.23, which has been associated with Williams-Beuren syndrome. The microdeletion was confirmed by FISH testing.

CONCLUSIONA child with Williams-Beuren syndrome has been diagnosed by SNP-array and FISH. The de novo 7q11.23 microdeletion probably underlies the clinical manifestation of the patient. Compared with routine karyotype analysis, SNP-array is more useful for diagnosing children with multiple congenital anomalies with unclear etiology.

Adult ; Asian Continental Ancestry Group ; genetics ; Child, Preschool ; China ; Chromosome Banding ; Chromosomes, Human, Pair 7 ; genetics ; DNA Copy Number Variations ; Female ; Humans ; Karyotyping ; Male ; Pedigree ; Polymorphism, Single Nucleotide ; Williams Syndrome ; diagnosis ; genetics

OBJECTIVETo determine the origin of a supernumerary small marker chromosome found in a fetus using prenatal BACs-on-Beads (BoBs) and single nucleotide polymorphism array (SNP-array) assays.

METHODSThe fetal sample was subjected to chromosomal karyotyping and BoBs analysis, and the results were validated with genome-wide scanning using a SNP microarray.

RESULTSThe fetus was found to have a 47,XX,+mar karyotype. BoBs analysis indicated that there was an amplification between 18p11.32 and 18p11.21, which was verified by the SNP-array assay as a 18.3 Mb duplication occurring at 18p11.32q11.1.

CONCLUSIONThe karyotype of the fetus was determined as 47,XX,+der18(18p11.32?18q11.1::18q11.1?18p11.32). The duplication has involved important genes including SMCHD1, LPIN2 and TGIF1, which may result in severe malformations in the fetus.

Adult ; Aneuploidy ; Chromosomes, Artificial, Bacterial ; genetics ; Chromosomes, Human, Pair 18 ; genetics ; Female ; Humans ; Karyotyping ; Microarray Analysis ; methods ; Polymorphism, Single Nucleotide ; Pregnancy ; Prenatal Diagnosis ; methods

Hypoxemia is a common complication of pneumonia, asthma, and bronchopulmonary dysplasia in children.Rapid identification of hypoxemia is of great significance for the disposal and management of critical children.Pulse oximetry is recognized by the World Health Organization as the best way to monitor hypoxemia in children, and it can monitor pulse oxygen saturation noninvasively and continuously.Based on the related literature at home and abroad, combined with the clinical needs of pediatrics, the " Expert consensus on clinical application of pulse oximetry in children" is formulated to improve the understanding of pediatricians and nurses on the application in pediatric clinical practice, principle, operation techniques, and limitations of pulse oximetry.