Objective To compare the security between the sevoflurane anesthesia via laryngeal mask airway (LMA) composited nerve block in groin area and ketamine anesthesia in the pediatric hemioplasty.Methods 80 children (aged 2 -6,weight 10 -25kg,ASAⅠ -Ⅱ)with high ligation of hernia sac were divided into two groups according to the random number table method:group S -sevoflurane combined with inguinal region block under laryngeal airway ventilation;group K -ketamine combined with caudal block.Group S was inhalated with 6% -8% sevoflurane for foundation anesthesia,and then followed with vein induction:fentanyl 2μg/kg and propofol 2mg/kg.The laryngeal mask was placed when the temporomandibular joint was relaxed.Inguinal region was blocked by the surgeon after disinfect and spread towels.Anesthesia was maintained by 3% to 4% sevoflurane with mechanical ventilation interop-eration.Group K was adopted the intramuscular ketamine (5mg/kg)for basic anesthesia and then used modified sacral canal blocking.Ketamine 1mg/kg was administered before skin incision.Additional ketamine 0.5mg/kg was intravenously injected when it was appeared with body move,choking cough,etc.The values of MAP and HR in the two groups were recorded respectively at the time point of 1min before skin cutting (T0 ),1min after skin cutting (T1 ),5min after skin cutting (T2 ),the end of operation (T3 )and awaken time (T4 ).The body movement was observed intraoperation,the number of SpO2≤95% and awaken restlessness,the recovery time and residence time in anesthesia recovery room were recorded.Results The values of MAP in group S at time points of T1 ,T2 ,T3 were (77.6 ±6.2)mmHg,(77.8 ±6.4)mmHg,(76.5 ±4.7)mmHg respectively,and the values of MAP in group K at time points of T1 ,T2 ,T3 were (86.9 ±8.1)mmHg,(88.1 ±5.3)mmHg,(86.4 ±6.5)mmHg respectively.The t values at time points of T1 ,T2 ,T3 were 5.766,7.893,7.806 respectively when the group S compared with group K(P <0.0001),the group S was superior to group K.The values of HR in group S at time points of T1 ,T2 ,T3 were (121.3 ± 9.6)times/min,(121.9 ±8.4)times/min,(120.3 ±7.8)times/min respectively,and the values of HR in group K at time points of T1 ,T2 ,T3 were (138.6 ±9.4)times/min,(136.5 ±7.5)times/min,(128.7 ±6.9)times/min respec-tively.The t values at time points of T1 ,T2 ,T3 were 8.144,8.200,5.101 respectively(P <0.0001),the group S was superior to group K.The MAP and HR were more smoothly in group S than in group K.The recovery time in group S and K was (7.5 ±3.4)min and (16.7 ±5.5)min respectively(t =8.99,P <0.0001),it was shorter in group S than in group K.The residence time in anesthesia recovery room was (15.4 ±4.2)min and (23.7 ±6.3)min respectively (t =6.93,P <0.0001),it was shorter in group S than in group K.Intraoperative body movements was 3 cases and 15 cases respectively in group S and group K(χ2 =10.32,P <0.001);Cases of SpO2 ≤95% was 4 and 12 respec-tively in group S and group K(χ2 =10.32,P <0.001),the occurrence of body movements and SpO2 ≤95% cases was lower in group S than in group K.Conclusion The sevoflurane anesthesia via LMA composited nerve block in groin area has the advantages of faster induction,faster recovery,the hemodynamics was more stable,adverse reactions was fewer and so on,it can be safely used in pediatric anesthesia.

Objective:To explore the clinical effect of "information knowledge belief practice" model, namely "IKAP theory" nursing intervention model on patients with peritoneal dialysis(PD).Methods:The clinical data of 120 patients with PD treated in The Second Hospital of Tianjin Medical University from January 2020 to December 2020 were analyzed retrospectively. The patients were randomly divided into control group and observation group, with 60 cases in each group. In the observation group, there were 32 males and 28 females with an age range of (56.16±10.25) years, including 18 cases of diabetic nephropathy, 22 cases of chronic glomerulonephritis and 20 cases of hypertensive nephropathy. In the control group, there were 34 males and 26 females, with an age range of (56.27±10.34) years, including 14 cases of diabetic nephropathy, 18 cases of chronic glomerulonephritis and 28 cases of hypertensive nephropathy. The patients in the control group were given routine nursing. In addition to the routine nursing, the patients in the observation group also adopted IKAP mode for nursing intervention. The levels of hemoglobin (HB), serum albumin (ALB), comprehensive nutrition assessment score (SGA) and nursing satisfaction of the two groups were compared before and 6 months after the intervention. The comparison of measurement data before and after intervention in the intervention group was analyzed by paired sample t-test. Frequency data were compared and analyzed by Chi-square ( χ2) test. Results:Before the intervention, there was no significant difference in ALB, Hb levels and SGA between the observation group and the control group( t=1.001~1.743, all P>0.05). After the intervention, the SGA score of the observation group was lower than that of the control group, while the levels of ALB and Hb were higher than those of the control group, and the differences between the two groups were statistically significant ( t=3.411~5.050, all P<0.05). The satisfaction of patients in the observation group was 95%, while that in the control group was 78.33%, and the difference between the two groups was statistically significant ( χ2=7.212, P<0.05). Conclusions:For peritoneal dialysis patients, IKAP nursing intervention can not only effectively improve their nutritional status, but also increase their satisfaction with nursing. IKAP nursing intervention model is worthy of clinical promotion.

OBJECTIVETo achieve early diagnosis for inheritable hearing loss and determine carrier rate of deafness causing gene mutations in order to provide information for premarital, prenatal and postnatal genetic counseling.

METHODSA total of 17 000 dried heel blood spots of normal newborns in Chengdu were collected with informed consent obtained from their parents. Genomic DNA was extracted from dried blood spots using Qiagen DNA extraction kits. Microarrays with 9 common mutation loci of 4 deafness-associated genes in Chinese population were used. Nine hot mutations including GJB2 (35delG, 176del16, 235delC and 299delAT), GJB3 (538C> T), SLC26A4 (IVS 7-2A> G, 2168A> G), and mitochondrial DNA 12S rRNA (1555A> G, 1494C> T) were detected by PCR amplification and microarray hybridization. Mutations detected by microarray were verified by Sanger DNA sequencing.

RESULTSOf the 17 000 new-borns, 542 neonates had mutations of the 4 genes. Heterozygous mutations of GJB2, at 235delC, 299delAT, and 176del16 were identified in 254, 55, and 15 newborns, respectively. Two newborns had homozygous mutation of GJB2, 235delC. Heterozygous mutations at 538C> T of GJB3, 2168A> G and IVS 7-2A> G of SLC26A4 were found in 23, 17 and 128 newborns, respectively. For mutation analysis of mitochondrial DNA 12S rRNA, 1494C> T and 1555A> G were homogeneous mutations in 4 and 42 neonates, respectively. In addition, 6 complexity mutations were detected, which demonstrated that one newborn had heterozygous mutations at GJB2 235delC and SLC26A4, IVS7-2A> G, one had heterozygous mutation GJB2 235delC and 12S rRNA homogeneous mutation, 1555 A> G, one heterozygous mutations at GJB2, 299delAT, and GJB3, 538C> T, one at GJB2, 299delAT and 12S rRNA, 1555 A> G, two at GJB2, 299delAT, and SLC26A4, IVS7-2A> G. All mutations as above were confirmed by DNA sequencing.

CONCLUSIONThe total mutation carrier rate of the 4 deafness genes is 3.19% in healthy newborns at Chengdu. Mutations of GJB2 and SLAC26A4 are major ones (86.5% of total). The mutation rate of mitochondrial DNA 12S rRNA is 2.71‰, which may have deafness induced by aminoglycoside antibiotics. Newborn screening for mutation of genes related to hereditary deafness plays an important role in the early detection and proper management for neonatal deafness as well as genetic counseling for premarital, prenatal and postnatal diagnosis.

Asian Continental Ancestry Group ; genetics ; Base Sequence ; China ; Connexin 26 ; Connexins ; genetics ; DNA Mutational Analysis ; DNA, Mitochondrial ; chemistry ; genetics ; Deafness ; diagnosis ; ethnology ; genetics ; Dried Blood Spot Testing ; Genetic Predisposition to Disease ; ethnology ; genetics ; Genetic Testing ; methods ; Humans ; Infant, Newborn ; Membrane Transport Proteins ; genetics ; Microarray Analysis ; methods ; Mutation ; Neonatal Screening ; methods ; RNA, Ribosomal ; genetics

Objective:To study the expression and significance of microparticles (MPs), platelets microparticles (PMPs), CD41a +CD62P +PMPs from peripheral blood of patients with ankylosing spondylitis. Methods:Plasma were collected from 47 ankylosing spondylitis (AS) patients and 15 healthy volunteers. The levels of MPs, PMPs, and CD41a +CD62P +PMPs in plasma of AS patients and healthy controls (HC) were detected by flow cytometry. The clinical parameters including C-reactive protein (CRP), erythrocyte sedimentation rate (ESR), Bath ankylosing spondylitis disease activity index (BASDAI) were obtained. T test and Spearman linear correlation analysis were used for statistical analysis. Results:The levels of MPs, PMPs, CD41a + CD62P + PMPs in plasma from AS patients were higher than those in plasma from HC [(3 466±641)/μl vs (619±152)/μl, t=2.342, P=0.022; (3 059±628)/μl vs (320±143)/μl, t=2.298, P=0.025; (566±121)/μl vs (47±22)个/μl, t=2.295, P=0.025]. The levels of MPs in plasma of AS patients were positively correlated with BASDAI ( r=0.555, P=0.000 4); and the levels of PMPs in AS patients were positively correlated with BASDAI ( r=0.542, P=0.000 6) but the CD41a +CD62P +PMPs in AS patients were not correlated with BASDAI ( r=0.298, P=0.073 2). The levels of MPs in plasma from AS patients were not correlated with ESR, CRP ( r=-0.016, P=0.917; r=0.035, P=0.817); PMPs in plasma from AS patients were not correlated with ESR, CRP ( r=-0.001, P=0.996; r=0.065, P=0.671). CD41a +CD62P +PMPs in plasma of AS patients were not correlated with ESR, CRP ( r=-0.129, P=0.400; r=-0.410, P=0.789). Conclusion:There is increased expression of MPs, PMPs and CD41a +CD62P +PMPs in AS patients, which is related with disease activity. MPs, PMPs may be involved in the inflammatory response of AS.

OBJECTIVE: To explore the genetic etiology of a child with D bifunctional protein deficiency (DBPD) born to a consanguineous pedigree. METHODS: A child with DBPD who was admitted to the First Affiliated Hospital of Hainan Medical College on January 6, 2022 due to hypotonia and global developmental delay was selected as the study subject. Clinical data of her pedigree members were collected. Peripheral blood samples of the child, her parents and elder sisters were collected and subjected to whole exome sequencing. Candidate variant was validated by Sanger sequencing and bioinformatic analysis. RESULTS: The child, a 2-year-and-9-month-old female, had featured hypotonia, growth retardation, unstable head lift, and sensorineural deafness. Serum long-chain fatty acids were elevated, and auditory brainstem evoked potentials had failed to elicit V waves in both ears with 90 dBnHL stimulation. Brain MRI revealed thinning of corpus callosum and white matter hypoplasia. The child's parents were secondary cousins. Their elder daughter had a normal phenotype and no clinical symptoms related to DBPD. Elder son had frequent convulsions, hypotonia and feeding difficulties after birth, and had died one and a half month later. Genetic testing revealed that the child had harbored homozygous c.483G>T (p.Gln161His) variants of the HSD17B4 gene, for which both of her parents and elder sisters were carriers. Based on the guidelines from the American College of Medical Genetics and Genomics, the c.483G>T (p.Gln161His) was rated as a pathogenic variant (PM1+PM2_Supporting+PP1+PP3+PP4). CONCLUSION The homozygous c.483G>T (p.Gln161His) variants of the HSD17B4 gene caused by the consanguineous marriage probably underlay the DBPD in this child.
Female ; Humans ; Pedigree ; Muscle Hypotonia ; Hearing Loss, Sensorineural ; Protein Deficiency ; Mutation

Objective: To describe the distribution and drug resistance of pathogens at hematology department of Jiangsu Province from 2014 to 2015 to provide reference for empirical anti-infection treatment. Methods: Pathogens were from hematology department of 26 tertiary hospitals in Jiangsu Province from 2014 to 2015. Antimicrobial susceptibility testing was carried out according to a unified protocol using Kirby-Bauer method or agar dilution method. Collection of drug susceptibility results and corresponding patient data were analyzed. Results: The separated pathogens amounted to 4 306. Gram-negative bacteria accounted for 64.26%, while the proportions of gram-positive bacteria and funguses were 26.99% and 8.75% respectively. Common gram-negative bacteria were Escherichia coli (20.48%) , Klebsiella pneumonia (15.40%) , Pseudomonas aeruginosa (8.50%) , Acinetobacter baumannii (5.04%) and Stenotropho-monas maltophilia (3.41%) respectively. CRE amounted to 123 (6.68%) . Common gram-positive bacteria were Staphylococcus aureus (4.92%) , Staphylococcus hominis (4.88%) and Staphylococcus epidermidis (4.71%) respectively. Candida albicans were the main fungus which accounted for 5.43%. The rates of Escherichia coli and Klebsiella pneumonia resistant to carbapenems were 3.5%-6.1% and 5.0%-6.3% respectively. The rates of Pseudomonas aeruginosa resistant to tobramycin and amikacin were 3.2% and 3.3% respectively. The resistant rates of Acinetobacter baumannii towards tobramycin and cefoperazone/sulbactam were both 19.2%. The rates of Stenotrophomonas maltophilia resistant to minocycline and sulfamethoxazole were 3.5% and 9.3% respectively. The rates of Staphylococcus aureus, Enterococcus faecium and Enterococcus faecalis resistant wards vancomycin were 0, 6.4% and 1.4% respectively; also, the rates of them resistant to linezolid were 1.2%, 0 and 1.6% respectively; in addition, the rates of them resistant to teicoplanin were 2.8%, 14.3% and 8.0% respectively. Furthermore, MRSA accounted for 39.15% (83/212) . Conclusions Pathogens were mainly gram-negative bacteria. CRE accounted for 6.68%. The rates of Escherichia coli and Klebsiella pneumonia resistant to carbapenems were lower compared with other antibacterial agents. The rates of gram-positive bacteria resistant to vancomycin, linezolid and teicoplanin were still low. MRSA accounted for 39.15%.