Objective:To detect pathogenic mutation in a Chinese family affected with isolated bilateral microtia.Methods:During 2022 June to December, one Chinese Han family with non-syndromic bilateral microtia was recruited at the First Hospital of Shanxi Medical University. The clinical data and peripheral blood samples were collected from the family members. Whole genome sequencing (WGS) was performed in the proband to screen all candidate variants. Quantitative PCR was applied to identify the candidate copy number variation (CNV) among the proband, the unaffected wife and the affected son to demonstrate the association between candidate variant and phenotype.Results:The patients in the family had non-syndromic bilateral concha-type microtia. WGS detected the duplication in the intergenic region of HMX1 and CPZ gene in the proband, which involved the evolutionarily conserved region (ECR). Both the proband and his affected son carried the CNV, while his unaffected wife did not have this variation.Conclusion:Duplications involving the long range HMX1 enhancer ECR are associated with the bilateral concha-type microtia in this family.

Objective:To detect pathogenic mutation in a Chinese family affected with isolated bilateral microtia.Methods:During 2022 June to December, one Chinese Han family with non-syndromic bilateral microtia was recruited at the First Hospital of Shanxi Medical University. The clinical data and peripheral blood samples were collected from the family members. Whole genome sequencing (WGS) was performed in the proband to screen all candidate variants. Quantitative PCR was applied to identify the candidate copy number variation (CNV) among the proband, the unaffected wife and the affected son to demonstrate the association between candidate variant and phenotype.Results:The patients in the family had non-syndromic bilateral concha-type microtia. WGS detected the duplication in the intergenic region of HMX1 and CPZ gene in the proband, which involved the evolutionarily conserved region (ECR). Both the proband and his affected son carried the CNV, while his unaffected wife did not have this variation.Conclusion:Duplications involving the long range HMX1 enhancer ECR are associated with the bilateral concha-type microtia in this family.

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease affecting both upper and lower motor neurons in the brain and spinal cord. One important aspect of ALS pathogenesis is superoxide dismutase 1 (SOD1) mutant-mediated mitochondrial toxicity, leading to apoptosis in neurons. This study aimed to evaluate the neural protective synergistic effects of ginsenosides Rg1 (G-Rg1) and conditioned medium (CM) on a mutational SOD1 cell model, and to explore the underlying mechanisms. We found that the contents of nerve growth factor, glial cell line-derived neurotrophic factor, and brain-derived neurotrophic factor significantly increased in CM after human umbilical cord mesenchymal stem cells (hUCMSCs) were exposed to neuron differentiation reagents for seven days. CM or G-Rg1 decreased the apoptotic rate of SOD1^G93A-NSC34 cells to a certain extent, but their combination brought about the least apoptosis, compared with CM or G-Rg1 alone. Further research showed that the anti-apoptotic protein Bcl-2 was upregulated in all the treatment groups. Proteins associated with mitochondrial apoptotic pathways, such as Bax, caspase 9 (Cas-9), and cytochrome c (Cyt c), were downregulated. Furthermore, CM or G-Rg1 also inhibited the activation of the nuclear factor-kappa B (NF-κB) signaling pathway by reducing the phosphorylation of p65 and IκBα. CM/G-Rg1 or their combination also reduced the apoptotic rate induced by betulinic acid (BetA), an agonist of the NF-κB signaling pathway. In summary, the combination of CM and G-Rg1 effectively reduced the apoptosis of SOD1^G93A-NSC34 cells through suppressing the NF-κB/Bcl-2 signaling pathway (Fig. 1 is a graphical representation of the abstract).
Humans ; NF-kappa B/metabolism* ; Ginsenosides/pharmacology* ; Amyotrophic Lateral Sclerosis/genetics* ; Culture Media, Conditioned/pharmacology* ; Superoxide Dismutase-1 ; Neurodegenerative Diseases ; Neurons/metabolism* ; Apoptosis

OBJECTIVETo assess the value of pre-gestational deafness-related mutation screening for the prevention and intervention of congenital deafness.

METHODSIn this study, 2168 couples with normal hearing were screened for common mutations associated with congenital deafness using real-time fluorescence quantitative PCR. The mutations have included GJB2 c.235delC and c.299_300delAT, SLC26A4 c.2168A>G and c.IVS7-2A>G, and mtDNA 12SrRNA c.1494C>T and c.1555A>G. For couples who have both carried heterozygous mutations of the same gene, genetic counseling and prenatal diagnosis were provided.

RESULTSAmong of the 4 336 individuals, 178 (4.06%) were found to carry a mutation. Mutation rate for c.235delC and c.299_300delAT of GJB2 gene, c.IVS7-2 A>G and c.2168 A>G of SLC26A4 gene, c.1555 A>G and c.1494 C>T of DNA 12S rRNA gene were 0.91%, 0.20%, 0.68%, 0.11%, 0.1% and 0.01%, respectively. For six couples who have both carried mutations of the same gene, all fetuses showed a normal karyotype, while DNA sequencing indicated that two fetuses have carried homozygous c.235delC mutation of the GJB2 gene, one carried a heterozygous c.235delC mutation of the GJB2 gene, one carried heterozygous mutation of GJB2 gene (c.299_300delAT), and two have carried a heterozygous mutation of c.IVS7-2A>G of the SLC26A4 gene.

CONCLUSIONPre-gestational screening for deafness gene mutation can facilitate avoidance the birth of affected children and has a great clinical value for the prevention and intervention of birth defect.

Connexins ; genetics ; Deafness ; congenital ; genetics ; prevention & control ; Female ; Humans ; Mutation ; Pregnancy ; Prenatal Diagnosis

Objective: To investigate the pathogen spectrum distribution and drug resistance of febrile neutropenic patients with hematological diseases in Shanghai. Methods: A retrospective study was conducted on the clinical isolates from the febrile neutropenic patients hospitalized in the departments of hematology in 12 general hospitals in Shanghai from January 2012 to December 2014. The drug susceptibility test was carried out by Kirby-Bauer method. WHONET 5.6 software was used to analyze pathogenic bacteria and drug susceptibility data. Results: A total of 1 260 clinical isolates were collected from the febrile neutropenic patients. Gram-positive bacteria accounted for 33.3% and Gram-negative bacteria accounted for 66.7%. Klebsiella pneumoniae (12.5%) , Stenotrophomonas maltophilia (9.5%) , Escherichia coli (9.1%) , Pseudomonas aeruginosa (8.7%) , Acinetobacter baumannii (6.6%) , Staphylococcus aureus (5.6%) and Enterococcus faecium (5.0%) were ranked in the first 7 of all pathogens. In the respiratory tract secretions specimens, non-fermented strains accounted for 56.2%. Stenotrophomonas maltophilia accounted for 15.2%. Enterobacteriaceae and coagulase-negative Staphylococci accounted for 42.3% (104/246) and 32.6% (85/246) respectively in blood samples. Enterobacteriaceae and Enterococcus bacteria accounted for 39.4% (76/193) and 28.5% (55/193) respectively in pus specimens. The detection rates of methicillin resistant Staphylococcus aureus (MRSA) and methicillin resistant coagulase negative Staphylococci (MRCNS) were 54.3% and 82.5%, respectively. Staphylococcus bacterial strain was not found to be resistant to linezolid, vancomycin and teicoplanin. The detection rate of Enterococcus vancomycin-resistant strains was 8.9%. Enterococcus was not detected resistance to oxazolidinone strains. Enterobacteriaceae bacteria were highly sensitive to carbapenems. The resistance rate of Pseudomonas aeruginosa to imipenem and meropenem was 34.1% and 15.8%, respectively. Stenotrophomonas maltophilia was more sensitive to minocycline hydrochloride, levofloxacin and sulfamethoxazole. The resistance rate of Acinetobacter baumannii only to cefoperazone-sulbactam was less than 10.0%. The antibiotic resistance rate of Klebsiella pneumoniae, Stenotrophomonas maltophilia, Pseudomonas aeruginosa and Acinetobacter baumanii to most of common antibiotics was lower than that of the CHINET surveillance. Conclusions The pathogenic strain distribution in common infection sites of febrile neutropenic patients was characterized. Bacterial resistance surveillance was better than the CHINET nationwide large sample surveillance in China.

Objective To explore the effects of progressive muscle relaxation training (PMRT) on depression,anxiety and quality of life (QOL) in breast cancer patients during perioperative period,so as to provide references for improving nursing quality.Methods A total of 400 breast cancer patients from the First Affiliated Hospital of Xi'an Jiaotong University and Xi'an No.5 Hospital were selected as the research object by convenience sampling method from January 2015 to June 2016. They were divided into the experimental group (n=200,routine nursing + PMRT for five weeks) and the control group (n=200,routine nursing). The QOL,depression and anxiety of patients were evaluated by the functional assessment of cancer therapy-breast (FACT-B),self-rating anxiety scale (SAS),self-rating depression scale (SDS) on the first day after admission and at the fifth week after intervention.Results There was no statistically significant difference in the total score and scores of all dimensions of QOL,the score of anxiety and depression between two groups before intervention (P>0.05).AfterPMRT for five weeks,the total score of QOL was (107.68±5.48) in the experimental group which was higher than that (97.14±9.98) in the control group with a significant difference (t=13.017,P<0.01). Moreover,the scores of anxiety and depression [(38.45±4.91),(38.32±4.61)] in the experimental group were lower than those [(48.24±7.01),(50.24±4.24)] in the control group with significant differences (t=36.629, 18.585;P<0.01).ConclusionsThePMRT can effectively improve the QOL of breast cancer patients during perioperative period,relieve the unhealthy mental state on anxiety,depression and so on.ThePMRT should be widely applied in rehabilitation nursing in breast cancer patients after operation.

Objective To explore the effect of standard operational procedures (SOPs) when used in the quality management system of sterilization and supply departments,and to provide a theoretical basis for ensuring sterilization quality. Methods At first,a standard procedure template was prepared,then each department member was assigned to customize their SOPs based on their own circumstances,and finally the SOPs were reviewed one by one by the departments before the members were trained and began to use the SOPs;totally 2000 surgical instruments from January to December 2014 (before SOPs) and from January to December 2015 (after SOPs) were selected by random sampling,and the percentage of their cleaning quality failure,packing failure,needlestick injury,and the average of clean-up time were measured and compared. Results The possibilities of disqualified cleaning,packing,needlestick injury and lost stitches and average clean-up time decreased compared with those before the SOPs were introduced (χ2=132.37,91.85,9.98, 9.20,32.85;P < 0.05). Conclusions The introduction of SOPs maintains the work of sterilization and supply departments orderly and improve its quality,and therefore,SOPs should be introduced into the quality management system of sterilization and supply departments.

Humans ; Leukemia, Biphenotypic, Acute ; Leukocytosis

Users' cognition and information retrieval are faced with great challenges in ubiquitous knowledge environ-ment. The influence of cognitive factors such as personality traits, cognitive style and ability, knowledge structure and ascribed methods on users' information retrieval behaviors was thus analyzed. It was pointed out that different cognitive factors could influence the retrieval, judgment and absorption of its results,users' satisfaction and continuous use in ubiquitous knowledge environment,with suggestions put forward from the aspects of information retrieval education, information service and information users for improving the users ' knowledge system in knowledge assimilating process by working out effective retrieval strategies using the advantages of cognition.

BACKGROUND:Stem cells have been shown to not only replace damaged cells, but also secrete trophic factors, bringing a bright future for the treatment of clinical spinal cord injury.
OBJECTIVE:To review the latest advances of bone marrow mesenchymal stem cells in animal and clinical research.
METHODS:A computer-based search of Kjmed and Wanfang databases was done for relevant articles published from April 2004 to April 2014 using the keywords of“stem cells, spinal cord injuries, embryonic stem cells, neural stem cells, mesenchymal stem cells”in English and Chinese, respectively.
RESULTS AND CONCLUSION:Total y 2 745 articles were initial y retrieved, and only 50 articles were included in result analysis. Bone marrow mesenchymal stem cells have become one of the most promising sources of stem cells in the treatment of spinal cord injury. Although the bone marrow mesenchymal stem cellin the treatment of spinal cord injury is stil in its infancy, it has certain effects on the repair of spinal cord injury. The mechanism of action of bone
marrow mesenchymal stem cells in the treatment of spinal cord injury is possibly related to the substitution effect, neurotrophic effects, suppression of the immune response and promoting axonal regeneration.