Clinical features and genetic analysis of a child with 3-methylglutenedioic aciduria type VII due to novel variants of CLPB gene / 中华医学遗传学杂志

OBJECTIVE@#To explore the clinical features and genetic basis for a child with 3-methylglutaconic aciduria type VII.@*METHODS@#A child who was diagnosed at the Gansu Provincial Maternity and Child Health Care Hospital on August 9, 2019 was selected as the study subject. Clinical data of the child, including urine gas chromatography and mass spectrometry, were collected. The child and her parents were subjected to whole exome sequencing.@*RESULTS@#The child, a female neonate, had presented mainly with intermittent skin cyanosis, convulsions, hypomagnesemia, apnea, neutropenia after birth. Her urine 3-methylpentenedioic acid has increased to 17.53 μmol/L. DNA sequencing revealed that she has harbored compound heterozygous variants of the CLPB gene, namely c.1016delT (p.L339Rfs*5) and c.1087A>G (p.R363G), which were respectively inherited from her mother and father. Both variants were unreported previously. Based on the standards from the American College of Medical Genetics and Genomics (ACMG), the variants were respectively predicted to be pathogenic and likely pathogenic.@*CONCLUSION@#The child was diagnosed with 3-methylglutenedioic aciduria type VII. Discovery of the c.1016delT and c.1087A>G variants has enriched the mutational spectrum of the CLPB gene.

Development of a Serum-Free Culture Method for Endothelial Cells of the Stria Vascularis and Their Pro-Inflammatory Secretome Changes Induced by Oxidative Stress

Objectives@#. Reactive oxygen species in the stria vascularis (SV) of the cochlea may be involved in the pathogenesis of sensorineural hearing loss. However, the effects of oxidative stress on SV endothelial cells (SV-ECs) remain largely unknown, and no feasible in vitro cell culture model exists for the functional study of SV-ECs. @*Methods@#. We isolated primary SV-ECs from the SV of neonatal mice. The apoptosis-reducing effects of fibronectin in SV-ECs cultured with serum-free medium were determined using β-galactosidase staining and flow cytometry. SV-ECs incubated in serum-free medium were treated with various H2O2 concentrations to evaluate the effects of H2O2 on their viability. The secretome of SV-ECs treated with or without H2O2 (100 μM or 500 μM) was analyzed using high-resolution mass spectrometry. The function of the SV-EC secretome was evaluated by a macrophage assay. @*Results@#. We successfully isolated and characterized the SV-ECs. Treatment with H2O2 at concentrations up to 500 μM for 2 hours and further incubation with serum-free medium in plates precoated with fibronectin showed no significant effect on apoptosis. Compared to the control SV-ECs, the amount of differential proteins in the secretome of SV-ECs stimulated with 500 μM H2O2 was much higher than in those treated with 100 μM H2O2. Kyoto Encyclopedia of Genes and Genomes and Gene Ontology analyses suggested that the proteins differentially expressed in SV-ECs treated with 500 μM H2O2 were involved in the regulation of multiple signaling pathways and cellular processes. The secretome of H2O2-stimulated SV-ECs exhibited significant pro-inflammatory effects on macrophages. @*Conclusion@#. We successfully established an in vitro serum-free culture method, identified the differential proteins released by oxidative stress-induced ECs and their functions, and revealed the pro-inflammatory effects of the secretome of H2O2-stimulated SV-ECs. Therefore, SV-ECs might elicit immunoregulatory effects on bystander cells in the microenvironment of oxidative stress-induced cochlea, especially cochlear macrophages.

Mental Health Status and Influencing Factors of Pediatricians in Guangzhou / 中山大学学报(医学科学版)

ObjectiveTo investigate the mental health of pediatricians in Guangzhou and its influencing factors， and to provide countermeasures for improving the mental health of pediatricians. MethodsA stratified random sampling method was used to randomly select 400 pediatricians in 11 districts of Guangzhou， and they were surveyed using the Symptom Check List（SCL-90） and the Job Stressor Scale. ResultsThe top three job stressors scored by pediatricians in Guangzhou were external environment （3.23±0.59）， workload （3.19±0.56）， and organizational management （2.74±0.55）. All factor scores were higher than those of the clinician group except for career interest， and the difference was statistically significant （P<0.01）. The number of pediatricians with mental health problems was 109， accounting for 27.25%. All factor scores were higher than the physician norm except for anxiety and paranoia. The correlations between each factor of work stressors and each factor of SCL-90 were positive and statistically significant （P<0.05）， except for two pairs of factors， workload and terror as well as external environment and terror. The results of univariate analysis showed statistically significant differences in the mental health scores of pediatricians with different health status， years of work experience， job satisfaction， job stress， and career prospects （P<0.05）. The results of multiple linear regression showed that health status， years of work experience， professional interest， interpersonal relationship， and doctor-patient relationship were influential factors in the mental health of pediatricians （P<0.05）. ConclusionThe mental health of pediatricians in Guangzhou is unsatisfactory， and the factors affecting them are mainly external objective factors such as workload and organizational management.

Hepatitis B virus X protein promotes podocyte pyroptosis in hepatitis B virus-associated glomerulonephritis by down-regulating microRNA -223 targeting NLRP3 inflammasome / 中华肝脏病杂志

Objective: To investigate the potential function and related mechanism of microRNA-223 (miRNA-223) in the podocyte pyroptosis of hepatitis B virus (HBV)-associated glomerulonephritis induced by HBV X protein (HBx). Methods: HBx-overexpressing lentivirus was transfected into human renal podocytes to mimic the pathogenesis of HBV-GN. Real-time fluorescence quantitative PCR and Western blotting experiments were used to detect the mRNA and protein expression of pyroptosis-related proteins [nucleotide-binding oligomerization domain-like receptor protein 3 (NLRP3), apoptosis-associated speck-like protein containing a CARD (ASC) and caspase-1], and inflammatory factors (interleukin-1β and interleukin-18), respectively.TUNEL staining and flow cytometry were used to detect the number of pyroptosis cells. Immunofluorescence staining was used to detect the expression of podocytes biomarkers desmin and nephrin; Hoechst 33342 staining was used to observe the morphological and quantitative changes of podocyte nuclei. Enzyme-linked immunosorbent assay was used to measure caspase-1 activity. The dual luciferase reporter gene assay was used to verify the downstream target of miRNA-223. Podocytes were divided into the following nine groups: control group (no special treatment), empty plasmid group (transfected with empty plasmid), HBx overexpression group (transfected with HBx overexpression lentivirus), HBx overexpression+miRNA-223 mimic group (transfected with HBx overexpression lentivirus and miRNA-223 mimic), HBx overexpression+miRNA-223 inhibitor group (transfected with HBx overexpression lentivirus and miRNA-223 inhibitor), HBx overexpression+miRNA-223 mimic+NLRP3 group (transfected with HBx overexpression lentivirus, miRNA-223 mimic and NLRP3 overexpression plasmid), HBx overexpression+miRNA-223 mimic+ NLRP3 siRNA group (transfected with HBx overexpression lentivirus, miRNA-223 mimic and NLRP3 siRNA), HBx overexpression+miRNA-223 inhibitor+NLRP3 group (transfected with HBx overexpression lentivirus, miRNA-223 inhibitor and NLRP3 overexpression plasmid), HBx overexpression+miRNA-223 inhibitor+NLRP3 siRNA group (transfected with HBx overexpression lentivirus, miRNA-223 inhibitor and NLRP3 siRNA). Results: miRNA-223 was down-regulated in HBx overexpression group compared with the control group (P < 0.05). TUNEL and immunofluorescence staining showed that NLRP3 knockdown attenuated podocyte injury and pyroptosis induced by HBx overexpression (P < 0.05). Dual luciferase reporter gene assay demonstrated that NLRP3 was one of the downstream targets of miRNA-223. Rescue experiments revealed that NLRP3 overexpression weakened the protective effect of miRNA-223 in podocyte injury (P < 0.05). The addition of miRNA-223 mimic and NLRP3 siRNA decreased the expression of NLRP3 inflammasome and cytokines, and reduced the number of pyroptosis cells induced by HBx overexpression (all P < 0.05); The addition of miRNA-223 inhibitor and NLRP3 overexpression plasmid significantly increased the expression of NLRP3 inflammasome and cytokines, caspase-1 activity, and the number of pyroptosis cells (all P < 0.05). Conclusion: HBx may promote podocyte pyroptosis of HBV-GN via downregulating miRNA-223 targeting NLRP3 inflammasome, suggesting that miRNA-223 is expected to be a potential target for the treatment of HBV-GN.

Clinical features and genetic analysis of a child with acute form of Tyrosinemia type I due to a novel variant of FAH gene / 中华医学遗传学杂志

OBJECTIVE@#To analyze the clinical phenotype and genetic basis for a child with acute form of tyrosinemia type I (TYRSN1).@*METHODS@#A child with TYRSN1 who presented at the Gansu Provincial Maternal and Child Health Care Hospital in October 2020 was selected as the subject. The child was subjected to tandem mass spectrometry (MS-MS) and urine gas chromatography-mass spectrometry (GC-MS) for the detection of inherited metabolic disorders, in addition with whole exome sequencing (WES). Candidate variants were validated by Sanger sequencing.@*RESULTS@#The child's clinical features included abdominal distension, hepatomegaly, anemia and tendency of bleeding. By mass spectrometry analysis, her serum and urine tyrosine and succinylacetone levels have both exceeded the normal ranges. WES and Sanger sequencing revealed that she has harbored c.1062+5G>A and c.943T>C (p.Cys315Arg) compound heterozygous variants of the FAH gene, which were inherited from her father and mother, respectively. Among these, the c.943T>C was unreported previously.@*CONCLUSION@#Considering her clinical phenotype and result of genetic testing, the child was diagnosed with TYRSN1 (acute type). The compound heterozygous variants of the FAH gene probably underlay the disease in this child. Above finding has further expanded the spectrum of FAH gene variants, and provided a basis for accurate treatment, genetic counseling and prenatal diagnosis for her family.

Application status and thinking of acupuncture and moxibustion therapy for assisted reproductive field in the United States / 中国针灸

The application status of acupuncture and moxibustion therapy for assisted reproductive field in the United States was analyzed, and the existing problems and future development directions were discussed. According to the survey on the 456 websites of assisted reproductive clinic in the United States mentioned in the report of U.S. Centers for Disease Control and Prevention (CDC), 111 clinics among 456 assisted reproductive clinics recommend and used acupuncture and moxibustion therapy, accounting for 24.3%. Acupuncture and moxibustion therapy had obvious effect, good safety and low cost, and the assisted reproductive institutions in the United States had a high degree of application and recognition to acupuncture and moxibustion therapy. However, some problems, such as immature treatment scheme, unclear mechanism and imperfect insurance policies, still existed. In the future, the advantages of Chinese traditional acupuncture and moxibustion should combine with international modern assisted reproductive technology, and multi-center and large-sample clinical randomized controlled trials and basic experimental research on the mechanism of acupuncture and moxibustion for assisted reproduction should be carried out.

Fish Oil Improves Dysbiosis of Host-microbial Interaction and Maintains Remission in Colitis Mice / 中国生物化学与分子生物学报

n-3 polyunsaturated fatty acids (PUFAs) play an active role in controlling the progression of ulcerative colitis (UC), but its mechanism is not very clear. In this study, we compared the effects of fish oil (the main component is n-3 PUFAs) in the mouse model with acute and chronic colitis induced by dextran sulfate sodium (DSS). Male C57BL/6J mice were randomly divided into six groups, and each group had ten mice. The alleviating effect of fish oil on chronic colitis was significantly better than acute colitis as indicated by the following analysis: the weight loss of mice (P < 0. 05), decreased disease activity index (DAI) score (P<0. 05), colonic edema, colon length index and histopathological score (P < 0. 05), and serum pro-inflammatory factor levels like IL-1β, TNF-α, and IL-6 (P < 0. 01). Moreover, fish oil promoted the level of serum anti-inflammatory factor IL-10 (P<0. 05). The treatment of fish oil increased the n-3 PUFA concentration in the intestinal epithelium of mice (P < 0. 01), especially EPA (P<0. 05). 16S rRNA sequencing of feces revealed that fish oil significantly increased the relative abundance of butyrate-producing flora (Clostridiales) and probiotics (Bifidobacteriales) in the feces of the maintained remission model group, reduce the proportion of aerobic, parthenogenic anaerobic and pathogenic, and improved the disorder of glycan biosynthesis and metabolism and oxidative phosphorylation (P<0. 05). Compared with the induced remission fish oil group, fish oil treatment led to an elevated expression of mechanical barrier and energy metabolism pathway proteins in the maintained remission fish oil group. Our results showed that fish oil exerted a more potent inhibitory effect in the remission mice model, which may be related to effectively strengthening the mechanical barrier, improving the composition and function of intestinal microbiota and concentration of butyric acids and improving dysbiosis of host-microbial interaction.

Icariin improves renal interstitial fibrosis in a rat model of chronic renal failure by regulating mitochondrial dynamics / 中国中药杂志

This study aims to explore the effect of icariin(ICA) on mitochondrial dynamics in a rat model of chronic renal failure(CRF) and to investigate the molecular mechanism of ICA against renal interstitial fibrosis(RIF). CRF was induced in male Sprague-Dawley(SD) rats with 5/6(ablation and infarction, A/I) surgery(right kidney ablation and 2/3 infarction of the left kidney). Four weeks after surgery, the model rats were randomized into the following groups: 5/6(A/I) group, 5/6(A/I)+low-dose ICA group, and 5/6(A/I)+high-dose ICA group. Another 12 rats that received sham operation were randomly classified into 2 groups: sham group and sham+ICAH group. Eight weeks after treatment, the expression of collagen-Ⅰ(Col-Ⅰ), collagen-Ⅲ(Col-Ⅲ), mitochondrial dynamics-related proteins(p-Drp1 S616, p-Drp1 S637, Mfn1, Mfn2), and mitochondrial function-related proteins(TFAM, ATP6) in the remnant kidney tissues was detected by Western blot. The expression of α-smooth muscle actin(α-SMA) was examined by immunohistochemical(IHC) staining. The NRK-52 E cells, a rat proximal renal tubular epithelial cell line, were cultured in vitro and treated with ICA of different concentration. Cell viability was detected by CCK-8 assay. In NRK-52 E cells stimulated with 20 ng·mL~(-1) TGF-β1 for 24 h, the effect of ICA on fibronectin(Fn), connective tissue growth factor(CTGF), p-Drp1 S616, p-Drp1 S637, Mfn1, Mfn2, TFAM, and ATP6 was detected by Western blot, and the ATP content and the mitochondrial morphology were determined. The 20 ng·mL~(-1) TGF-β1-stimulated NRK-52 E cells were treated with or without 5 μmol·L~(-1) ICA+10 μmol·L~(-1) mitochondrial fusion promoter M1(MFP-M1) for 24 h and the expression of fibrosis markers Fn and CTGF was detected by Western blot. Western blot result showed that the levels of Col-Ⅰ, Col-Ⅲ, and p-Drp1 S616 were increased and the levels of p-Drp1 S637, Mfn1, Mfn2, TFAM, and ATP6 were decreased in 5/6(A/I) group compared with those in the sham group. The levels of Col-Ⅰ, Col-Ⅲ, and p-Drp1 S616 were significantly lower and the levels of p-Drp1 S637, Mfn1, Mfn2, TFAM, and ATP6 were significantly higher in ICA groups than that in 5/6(A/I) group. IHC staining demonstrated that for the expression of α-SMA in the renal interstitium was higher in the 5/6(A/I) group than in the sham group and that the expression in the ICA groups was significantly lower than that in the 5/6(A/I) group. Furthermore, the improvement in the fibrosis, mitochondrial dynamics, and mitochondrial function were particularly prominent in rats receiving the high dose of ICA. The in vitro experiment revealed that ICA dose-dependently inhibited the increase of Fn, CTGF, and p-Drp1 S616, increased p-Drp1 S637, Mfn1, Mfn2, TFAM, and ATP6, elevated ATP content, and improved mitochondrial morphology of NRK-52 E cells stimulated by TGF-β1. ICA combined with MFP-M1 further down-regulated the expression of Fn and CTGF in NRK-52 E cells stimulated by TGF-β1 compared with ICA alone. In conclusion, ICA attenuated RIF of CRF by improving mitochondrial dynamics.

Gene variation analysis and prenatal diagnosis for 54 families with oculocutaneous albinism / 中华围产医学杂志

Objective:To investigate the pathogenic gene locus and prenatal genetic diagnosis of 54 families with oculocutaneous albinism (OCA).Methods:This retrospective study enrolled 54 OCA probands and their families from Gansu Province Maternal and Child Health Care Hospital from May 2014 to May 2020. TYR gene variation screening was performed on the probands by Sanger sequencing. Those with negative results were analyzed by high-throughput sequencing, and further verification was performed on their parents by Sanger sequencing. Among the 54 families, 15 ml amniotic fluid were collected from 16 women at 18-21 gestational weeks in their subsequent pregnancy. Sanger sequencing combined with short tandem repeats sequence for linkage analysis were performed for genetic analysis. All data were analyzed using descriptive statistical analysis. Results:Out of the 54 OCA probands, 48 were diagnosed as OCA1, five were OCA2 and one was OCA4 based on the Sanger sequencing and high-throughput sequencing detection. A total of 26 different variation sites were involved in the 48 OCA1 probands, including 15 missense mutations, five nonsense mutations, three splicing mutations, and three frame-shift mutations, among which, c.929insC (29%, 28/96) was the most frequent mutation, followed by c.896G>A (11%, 11/96), c.832C>T (8%, 8/96) and c.703T>C (5%, 5/96). The diagnosis was confirmed in all 16 fetuses in the 16 families that underwent prenatal diagnosis. Five of them were affected and their mothers chose to terminate the pregnancies, the other 11 pregnancies continued to delivery, including seven heterozygous carriers and four fetuses without the same pathogenic allele as the proband. Maternal contamination was excluded in all prenatal samples using short tandem repeat for linkage analysis. All 11 children were in good health during telephone follow-up one month after birth. Postnatal validations were consistent with the prenatal tests.Conclusions:Genetic diagnosis could accurately identify various types of OCA and help to provide prenatal diagnosis and fertility consultation for subsequent pregnancies.

Comparison of total hip arthroplasty with conventional instrument OCM approach and posterolateral approach in supine position / 中国骨伤

OBJECTIVE@#To compare the clinical efficacy of total hip arthroplasty with conventional instrument OCM approach and posterolateral approach in supine position.@*METHODS@#From February 2017 to January 2019, 67 patients underwent hip arthroplasty due to hip diseases, including 21 patients in the minimally invasive group, 12 males and 9 females;there were 10 cases of femoral neck fracture, 5 cases of aseptic necrosis of femoral head and 6 cases of hip osteoarthritis. In the traditional group, 46 cases were treated by traditional posterolateral approach, including 28 males and 18 females;there were 24 cases of femoral neck fracture, 12 cases of aseptic necrosis of femoral head and 10 cases of hip osteoarthritis. All patientsused biological ceramic artificial joint prosthesis. The operation time, intraoperative bleeding, incision length, preoperative and postoperative creatine kinase (CK-NAC), underground activity time, hospital stay, abduction angle and anteversion angle of prosthesis were observed and compared between two groups. Harris scores before operation and 12 months after operation were compared between two groups.@*RESULTS@#All cases were followed up for 14 to 26(18.4±3.6) months. There was no significant difference in intraoperative bleeding, postoperative anteversion and abduction angle between two groups (@*CONCLUSION@#The two approaches of total hip arthroplasty can obtain satisfactory results.OCM approach has less damage and rapid postoperative recovery. It is a reliable surgical approach and can be popularized and used.

Distribution of peripheral blood lymphocyte subpopulations in 654 children of preschool age / 国际儿科学杂志

Objective To investigate the distribution of peripheral blood lymphocyte subpopulations in 654 children aged 28 days to 7 years,and to provide a basis for establishing a normal reference range.Methods A total of 654 healthy Han children aged 28 days to 7 years were enrolled.The children were divided into infant group (28 days-12 months) (180 cases,27.52％),toddler group (1-3 years) (184 cases,28.13 ％),and preschooler group (3-7 years) (290 cases,44.34％).Peripheral blood samples were collected,and the percentages of lymphocyte subpopulation were detected by flow cytometry.Results There were statistically significant differences between boys and girls in CD3+ CD4 + T cells,CD3 + CD8 + T cells percentages and the CD4 +/CD8 + ratio in infant group (Z =-2.595,3.317,-3.492,all P ＜ 0.05);in CD3 +CD4 + T cells percentage in toddler group (Z =2.312,P ＜ 0.05);in CD3 + T cells,CD3 + CD4 + T cells,CD3-CD19 + B cells,CD3-CD16 + CD56 + NK cells percentages and the CD4 +/CD8 + ratio in preschool age group (Z =4.088,4.991,3.129,-6.949,2.141,all P ＜ 0.05).The comparison in all age groups showed significant differences in CD3 + T cells,CD3 + CD4 + T cells,CD3-CD19 + B cells,CD3-CD16 +CD56 + NK cells percentages and the CD4 +/CD8 + ratio in boys (x2 =6.925,51.543,39.563,87.751,30.334,all P ＜ 0.05),in CD3 + CD4 + T cells,CD3 + CD8 + T cells,CD3-CD16 + CD56 + NK cells percentages and the CD4 +/CD8 + ratio in girls (x2 =27.646,44.046,26.066,54.238,all P ＜ 0.05).The CD3 +CD4+ T cells and CD3-CD19+ B cells percentages declined with age (x2 =82.345,40.214,all P ＜0.05);The CD3+ CD8+ T cells and CD3-CD16+ CD56+ NK cells percentages increased with age (x2 =38.43,108.302,all P ＜0.05).Conclusion The peripheral blood lymphocyte subpopulation values differ by gender and age.It is necessary to establish the reference range of lymphocyte subpopulations for children in Lanzhou according to gender and age.

Distribution of peripheral blood lymphocyte subpopulations in 654 children of preschool age / 国际儿科学杂志

Objective@#To investigate the distribution of peripheral blood lymphocyte subpopulations in 654 children aged 28 days to 7 years, and to provide a basis for establishing a normal reference range.@*Methods@#A total of 654 healthy Han children aged 28 days to 7 years were enrolled.The children were divided into infant group(28 days-12 months)(180 cases, 27.52%), toddler group(1-3 years)(184 cases, 28.13%), and preschooler group(3-7 years)(290 cases, 44.34%). Peripheral blood samples were collected, and the percentages of lymphocyte subpopulation were detected by flow cytometry.@*Results@#There were statistically significant differences between boys and girls in CD3+ CD4+ T cells, CD3+ CD8+ T cells percentages and the CD4+ /CD8+ ratio in infant group(Z=-2.595, 3.317, -3.492, all P<0.05); in CD3+ CD4+ T cells percentage in toddler group(Z=2.312, P<0.05); in CD3+ T cells, CD3+ CD4+ T cells, CD3-CD19+ B cells, CD3-CD16+ CD56+ NK cells percentages and the CD4+ /CD8+ ratio in preschool age group(Z=4.088, 4.991, 3.129, -6.949, 2.141, all P<0.05). The comparison in all age groups showed significant differences in CD3+ T cells, CD3+ CD4+ T cells, CD3-CD19+ B cells, CD3-CD16+ CD56+ NK cells percentages and the CD4+ /CD8+ ratio in boys(χ2=6.925, 51.543, 39.563, 87.751, 30.334, all P<0.05), in CD3+ CD4+ T cells, CD3+ CD8+ T cells, CD3-CD16+ CD56+ NK cells percentages and the CD4+ /CD8+ ratio in girls(χ2=27.646, 44.046, 26.066, 54.238, all P<0.05). The CD3+ CD4+ T cells and CD3-CD19+ B cells percentages declined with age(χ2=82.345, 40.214, all P<0.05); The CD3+ CD8+ T cells and CD3-CD16+ CD56+ NK cells percentages increased with age(χ2=38.43, 108.302, all P<0.05).@*Conclusion@#The peripheral blood lymphocyte subpopulation values differ by gender and age.It is necessary to establish the reference range of lymphocyte subpopulations for children in Lanzhou according to gender and age.

Investigation and analysis of clinical nurses′caring behavior and patients′perception of caring / 中国实用护理杂志

Objective To investigate the current situation of clinical nurses′caring behavior and patients′perception of caring, to understand the level of nursing care behavior and analyze the influencing factors, and to discuss the relationship between patients′perception of caring and clinical nurses′caring behavior. Methods The convenience sampling method was used to investigate clinical nurses and inpatients from October to December 2018. The Caring Behavior Checklist was used to observe nurses' nursing care behavior, and the Client Perception of Caring Scale was used to investigate patients' perception of Caring. Results A total of 132 clinical nurses were observed and 132 patients were investigated. The score of verbal caring behavior was (3.36±1.44) points (out of a possible 7 points), and the score of non-verbal caring behavior was (2.33 ± 1.07) points (out of a possible 5 points).The overall score of Caring Behavior Checklist was (5.70±2.03) points (out of a possible 12 points). Nurses aged 26-35 (6.42 ± 2.07) points had a higher level of nursing care behavior than nurses of other age groups, and the difference was statistically significant (F=3.902, P<0.05).N1 nurses had a higher level of nursing care behavior than nurses at other levels, it was (7.72 ± 2.30) points, and the difference was significant (F=14.290, P<0.05). There was no significant difference in caring behavior level among nurses with different gender, departments, education backgrounds, academic titles and nursing ages (P>0.05). The overall score of Client Perception of Caring Scale was (43.49 ±3.84) (out of a possible 60 points), and there was a high positive correlation between client perception of caring and nursing care behavior (r=0.720, P<0.05). Conclusions The level of clinical nurses′caring behavior is low, and the training of caring knowledge, belief and behavior should be carried out to promote nurses′ caring behavior, so as to further improve client perception of caring.

Investigation and analysis of clinical nurses′ caring behavior and patients′ perception of caring / 中国实用护理杂志

Objective@#To investigate the current situation of clinical nurses′ caring behavior and patients′ perception of caring, to understand the level of nursing care behavior and analyze the influencing factors, and to discuss the relationship between patients′ perception of caring and clinical nurses′ caring behavior.@*Methods@#The convenience sampling method was used to investigate clinical nurses and inpatients from October to December 2018. The Caring Behavior Checklist was used to observe nurses' nursing care behavior, and the Client Perception of Caring Scale was used to investigate patients' perception of Caring.@*Results@#A total of 132 clinical nurses were observed and 132 patients were investigated. The score of verbal caring behavior was (3.36±1.44) points (out of a possible 7 points), and the score of non-verbal caring behavior was (2.33±1.07) points (out of a possible 5 points).The overall score of Caring Behavior Checklist was (5.70±2.03) points (out of a possible 12 points). Nurses aged 26-35 (6.42±2.07) points had a higher level of nursing care behavior than nurses of other age groups, and the difference was statistically significant (F=3.902, P<0.05).N1 nurses had a higher level of nursing care behavior than nurses at other levels, it was (7.72±2.30) points, and the difference was significant (F=14.290, P<0.05). There was no significant difference in caring behavior level among nurses with different gender, departments, education backgrounds, academic titles and nursing ages (P>0.05). The overall score of Client Perception of Caring Scale was (43.49 ±3.84) (out of a possible 60 points), and there was a high positive correlation between client perception of caring and nursing care behavior (r=0.720, P<0.05).@*Conclusions@#The level of clinical nurses′ caring behavior is low, and the training of caring knowledge, belief and behavior should be carried out to promote nurses′ caring behavior, so as to further improve client perception of caring.

Neural Respiratory Drive Measured Using Surface Electromyography of Diaphragm as a Physiological Biomarker to Predict Hospitalization of Acute Exacerbation of Chronic Obstructive Pulmonary Disease Patients / 中华医学杂志(英文版)

Background@#Neural respiratory drive (NRD) using diaphragm electromyography through an invasive transesophageal multi-electrode catheter can be used as a feasible clinical physiological parameter in patients with chronic obstructive pulmonary disease (COPD) to provide useful information on the treatment response. However, it remains unknown whether the surface diaphragm electromyogram (EMGdi) could be used to identify the deterioration of clinical symptoms and to predict the necessity of hospitalization in acute exacerbation of COPD (AECOPD) patients.@*Methods@#COPD patients visiting the outpatient department due to acute exacerbation were enrolled in this study. All patients who were subjected to EMGdi and classical parameters such as spirometry parameters, arterial blood gas analysis, COPD assessment test (CAT) score, and the modified early warning score (MEWS) in outpatient department, would be treated effectively in the outpatient or inpatient settings according to the Global Initiative for Chronic Obstructive Lung Disease guideline. When the acute exacerbation of the patients was managed, all the examination above would be repeated.@*Results@#We compared the relationships of admission-to-discharge changes (Δ) in the normalized value of the EMGdi, including the change of the percentage of maximal EMGdi (ΔEMGdi%max) and the change of the ratio of minute ventilation to the percentage of maximal EMGdi (ΔVE/EMGdi%max) with the changes of classical parameters. There was a significant positive association between ΔEMGdi%max and ΔCAT, ΔPaCO, and ΔpH. The change (Δ) of EMGdi%max was negatively correlated with ΔPaO/FiOin the course of the treatment of AECOPD. Compared with the classical parameters including forced expiratory volume in 1 s, MEWS, PaO/FiO, the EMGdi%max (odds ratio 1.143, 95% confidence interval 1.004-1.300) has a higher sensitivity when detecting the early exacerbation and enables to predict the admission of hospital in the whole cohort.@*Conclusions@#The changes of surface EMGdi parameters had a direct correlation with classical measures in the whole cohort of AECOPD. The measurement of NRD by surface EMGdi represents a practical physiological biomarker, which may be helpful in detecting patients who should be hospitalized timely.

Effects of different doses of microwave therapy on adjacent tissue of titanium alloy implants after fracture surgery / 中国组织工程研究

BACKGROUND: Microwave treatment is a common physical therapy method that can increase the temperature and blood circulation of deep tissues, and is used for improving fracture repair. However, microwave treatment cannot be used if there is surgically implanted metal plate or screw. OBJECTIVE: To observe the dame of microwave treatment to the tissues surrounding the titanium alloy implants. METHODS: Forty-four New Zealand white rabbits were randomized into experimental and control groups. The model of the fracture at the middle of the femur was established in all rabbits, and the rabbits in the experimental group were implanted with titanium alloy internal fixation systems. A 30-day microwave treatment (2 450 MHz, 20 W or 40 W, 20 minutes daily) was applied to the fracture site in all rabbits at 3 days after operation. RESULTS AND CONCLUSION: After 20 W of wave microwave treatment, the temperature of tissues around the implants showed no significant increase or severe heat injury. While, 40 W of wave microwave treatment significantly increased the temperature of tissues around the implants and the tissue was damaged severely. Our results indicate that, the low-dosage microwave treatment may be a promising method in the rehabilitation therapy of fractures with titanium alloy internal fixation.

Non-surgical spinal decompression system versus conventional traction device for treating lumbar disc herniation through surface electromyography / 中国组织工程研究

BACKGROUND: Non-surgical spinal decompression system can be used for the treatment of diseased intervertebral discs and avoid contraction and resistance of paravertebral muscle during traction. At present, there is lack of analysis of the efficacy of non-surgical spinal decompression in the treatment of lumbar disc herniation through surface electromyography. OBJECTIVE: To compare the effect of non-surgical spinal decompression system DRX9000 with conventional traction device in the treatment of lumbar disc herniation through surface electromyography. METHODS: Totally 60 patients with lumbar disc herniation were randomly divided into DRX9000 group and general traction group, with 30 cases in each group. The patients in DRX9000 group were treated with non-surgical spinal decompression system DRX9000 and the patients in general traction group were treated with conventional tractor. All patients underwent surface electromyography examination of erector spinal muscle and multifidus muscle before and after all treatment to evaluate the strength and fatigue of paravertebral muscle. The Visual Analogue Scale and Japanese Orthopaedic Association scores were used to assess the degree of pain and impairment due to lumbar disc herniation. RESULTS AND CONCLUSION: (1) After all of the treatment, the average electromyogram and mean power frequency slope of affected erector spinal muscle and multifidus muscle in both groups were increased than those before treatment (P < 0.05). The data of DRX9000 group were significantly higher than that of the general traction group (P < 0.05). (2) After all the treatment, the Visual Analogue Scale score decreased and the Japanese Orthopaedic Association score increased in both groups at the end of treatment compared with before treatment (P < 0.05). The Visual Analogue Scale score of DRX9000 group was significantly lower than that of the general traction group (P < 0.05) and the Japanese Orthopaedic Association score of DRX9000 group was significantly higher than that of the general traction group (P < 0.05). (3) These results showed that non-surgical spinal decompression system could effectively improve paravertebral muscle activity and muscle strength, lessen muscle fatigue, relieve pain, and improve function in patients with lumbar disc herniation, and its effect is obviously better than that of general traction.

Analysis of SOX10 gene mutation in a family affected with Waardenburg syndrome type II / 中华医学遗传学杂志

OBJECTIVE To detect potential mutation of SOX10 gene in a pedigree affected with Warrdenburg syndrome type II. METHODS Genomic DNA was extracted from peripheral blood samples of the proband and his family members. Exons and flanking sequences of MITF, PAX3, SOX10, SNAI2, END3 and ENDRB genes were analyzed by chip capturing and high throughput sequencing. Suspected mutations were verified with Sanger sequencing. RESULTS A c.127C>T (p.R43X) mutation of the SOX10 gene was detected in the proband, for which both parents showed a wild-type genotype. CONCLUSION The c.127C>T (p.R43X) mutation of SOX10 gene probably underlies the ocular symptoms and hearing loss of the proband.

Analysis on screening results of phenylketonuria among 567 691 neonates in Gansu Province / 国际检验医学杂志

Objective To retrospectively analyze the screening results of phenylketonuria(PKU ) among 567 691 neonates in Gansu Province to understand the prevalence situation of PKU and provide the basic data for preventing and treating PKU in Gansu Province .Methods 567 691 samples of neonatal dried heel blood spots were collected by Gansu Province Newborn Screening Cen‐ter from 2009 to 2014 and the phenylalanine (Phe) level was quantitatively determined by the fluorescence quantification method . The identification was performed by using the urine pterine profile analysis and phenylalanine hydroxylase(PAH) gene mutation de‐tection .Results Among 567 691 neonates ,166 neonates were diagnosed as PKU ,the total detection rate was 1/3 420 ,in which 119 cases (71 .7% ) were classic PKU ,33 cases (19 .9% ) were moderate PKU and 14 cases (8 .4% ) were mild PKU .Conclusion The morbidity rate of PKU in Gansu Province is much higher than the national average incidence level ,which is dominated by classic PKU .Therefore Gansu Province should become the major area of PKU prevention and treatment .

Update on prevention of epidural adhesion after lumbar laminectomy / 中国骨伤

Postoperative epidural adhesion is one of the most common causes of failed back surgery syndrome (FBSS), which can lead to back and leg pain or neurological deficit. Prevention of epidural adhesion after laminectomy is critical for improving the outcomes of lumbar surgery. The main origins of epidural fibrosis are raw surface of erector muscles and rupture fibers of intervertebral disc. The main current preventive methods for epidural adhesion include the usage of implants, chemicals and low dose radiation. However, most of them are still in experiment period. There are still controversies on the clinic usage of autograft free fat, ADCON-L, and Mitomycin C (MMC). The optimal implants are characteristics of better biocompatibility, degradable absorption and capability of existing for a certain period in body. The optimal medicine should have good effect on anti-desmoplasia, less side effects and long half-life. Besides, the combination of biodegradable medical film and drug and the mixture of two or more medical films are also the research frontlines of epidural adhesion. Further researches are required to explore new materials and drugs with stable and most favorable effect in preventing epidural adhesion.