RESUMO
Objective:To analyze the results of the joint screening of newborn hearing and deafness genes in Dalian to provide a reference for the prevention and control of hereditary deafness.Methods:Eight hundred and forty-two neonates born in Dalian Women and Children′s Medical Group from January 1, 2022 to May 30, 2022 were screened retrospectively, using AABR (automatic brainstem evoked potential). And 20 mutation sites of common genetic deafness 4 genes , including GJB2, GJB3, SLC26A4 (PDS) and mitochondrial genes associated with drug-induced deafness (MT-RNRI)(12SrRNA), were detected by high-throughput sequencing.Results:Among the 842 newborns, 840 passed hearing screening (99.8%); 36 cases (4.3%) passed the hearing screening but not the hearing loss gene screening; 804 cases passed through the both screening (95.5%); 2 cases (0.24%) failed in the both screening. 38 cases of deafness gene mutations were detected, with a total carrying rate of 4.51% (38/842). Among them, the carrying rates of heterozygous mutations in GJB2, GJB3, SLC26A4 (PDS), MT-RNRI (12SrRNA) were 1.90%, 0.24%, 1.30%, and 0.95%, respectively. The carrying rates of GJB2/GJB3 composite heterozygous mutations were 0.12%.Conclusions:The combined screening of neonatal hearing and deafness genes can reduce the missed rate of hearing screening. The carrier rate of neonatal deafness gene in Dalian is 4.51%, with the highest GJB 2 carrier rate, followed by SLC26A4 (PDS) carrier rate.
RESUMO
Objective:To explore the application value of non-invasive prenatal testing (NIPT) technology in twin pregnancy.Methods:A total of 339 twin pregnant women who underwent NIPT at Dalian Municipal Women and Children′s Medical Center(Group), Dalian Jinpu New District Maternity and Child Health Hospital, and Dalian Lvshunkou District People′s Hospital from July 1, 2019 to June 30, 2021 were continuously retrospectively included. The clinical characteristics and test results of pregnant women with high-risk and low-risk were analyzed.Results:Among 339 pregnant women, 336 were successfully tested, with a success rate of 99.12%(336/339); 6 pregnant women were at high risk of NIPT, with a positive screening rate of 1.77%(6/339), including 1 case of high risk of trisomy 13, 2 cases of high risk of trisomy 18, and 3 cases of high risk of Trisomy 21; the results of amniocentesis for 2 high-risk pregnant women were not abnormal.Conclusions:NIPT technology is non-invasive, safe and efficient, and is suitable for large-scale prenatal screening. However, the detection accuracy of pregnant women with twin pregnancy needs to be improved.
RESUMO
Objective:To investigate the clinical significance of seminal plasma polymorphonuclear neutrophil elastase(PMNE) concentration and semen quality in male infertility.Methods:Semen samples of 941 patients admitted to the andrology department from June 2017 to December 2018 in Dalian Municipal Women and Children′s Medical Center were selected. According to the World Health Organization (WHO) fifth edition standards, the positive group had a leukocyte content ≥ 1 × 10 9/L, and the negative group had a leukocyte content < 1 × 10 9/L; the samples were divided into the inflammatory group and the non-inflammatory group with the PMNE concentration of 600 μg/L as the cut-off point, and the relationship between the PMNE, semen parameters and mycoplasma positive rate was analyzed; the samples were divided into sterile group and normal group according to WHO standard, and the relationships among semen routine parameters, PMNE concentration and mycoplasma positive rate were analyzed. Results:PMNE in the positive group was significantly higher than that in the negative group [(1823.29 ± 557.64) × 10 9/L vs. (480.60 ± 195.36) × 10 9/L], and PMNE concentration was positively correlated with leukocyte content ( P<0.05); the semen quality of the inflammatory group decreased, and the positive rate of mycoplasma was higher than that of the non-inflammatory group [(23.7%(71/299) vs. 11.5%(74/642)] ( P<0.05). The semen quality of the sterile group decreased, and the PMNE and mycoplasma positive rate were both higher than that in the normal group [(1 230.89 ± 489.09) × 10 9/L) vs. (596.78 ± 159.25) × 10 9/L, 34.7%(90/259) vs. 8.1%(55/682)]( P<0.05). Conclusions:There is a good correlation between the concentration of PMNE and the leukocyte content, which can be used as an index to evaluate the male reproductive system infection. The concentration of PMNE is closely related to semen quality, which has clinical value in the diagnosis of male infertility.
RESUMO
Objective To analyze antimicrobial resistance of clinically isolated Burkholderia cepacia (B.cepacia),and provide evidence for clinical rational antimicrobial use.Methods B.cepacia isolated from clinical specimens between January 2013 and December 2014 were analyzed retrospectively,antimicrobial susceptibility results were statistically analyzed.Results A total of 98 isolates of B.cepacia between January 2013 and December 2014 were isolated,the main specimen was sputum(n =86,87.76 ％),the main department distribution was intensive care unit(n =46,46.94％),resistance rate of B.cepacia to ticarcillin / clavulanic acid was highest(73.47％),resistance rates to piperacillin / tazobactam and cefoperazone / sulbactam were both 16.33％,resistance rate to minocycline was the lowest(5.10％).Conclusion Infection caused by B.cepacia is high,prevention and control of healthcare-associated infection should be strengthened,early etiological examination should be performed,antimicrobial treatment should be combined with antimicrobial susceptibility results.
RESUMO
Objective To compare the lung injury in thoracoscopic cardiac surgery with one-lung ventilation (OLV) and thoracotomy cardiac surgery.Methods A total of 60 patients underwent thoracotomy cardiac surgery (control group) or thoracoscopic cardiac surgery with OLV (observation group) in our hospital from May 2013 to December 2015 were enrolled,30 patients in each group.Two-lung ventilation was performed with a single-lumen endotracheal tube in the control group.In observation group,left lung ventilation was performed with a double-lumen endotracheal tube.Arterial blood gas analysis parameters,levels of intercellular adhesion molecule-1 (ICAM-1) and surfactant protein A (SP-A) were detected after the induction of anesthesia (T1),before cardiopulmonary bypass (CPB)(T2),immediately after the onset of the CPB (T3),30 min after CPB (T,) and 60 min after CPB (T5),and the respiratory index (RI) was calculated at the above time points,as well.Lung tissues were collected during operation for nuclear factor-κB (NF-κB) detection and pathological analysis.Results Compared with the control group,arterial partial pressures of oxygen (PaO2) were decreased at T3,T4 and T5,and RI values were increased at T2,T3,T4 and T5 in the observation group(P＜ 0.05).After surgery,the serum levels of ICAM-1 and expression levels of NF-κB in both two groups were increased,and serum levels of SP-A in both two groups were decreased;moreover,the levels of ICAM-1 and NF-κB in the observation group were significantly higher than those in the control group (P＜0.05),and the level of SP-A in the observation group was significantly lower than that in the control group (P＜0.05).The lung histopathological changes showed alveolar swelling,neutrophil infiltration and interstitial exudation in the observation group,and inflammation in the observation group was more obvious than that in the control group.Conclusion Comparing with thoracotomy cardiac surgery,lung injury is more serious in thoracoscopic cardiac surgery with OLV.
RESUMO
Objective To compare the lung injury in thoracoscopic cardiac surgery with one-lung ventilation (OLV) and thoracotomy cardiac surgery.Methods A total of 60 patients underwent thoracotomy cardiac surgery (control group) or thoracoscopic cardiac surgery with OLV (observation group) in our hospital from May 2013 to December 2015 were enrolled,30 patients in each group.Two-lung ventilation was performed with a single-lumen endotracheal tube in the control group.In observation group,left lung ventilation was performed with a double-lumen endotracheal tube.Arterial blood gas analysis parameters,levels of intercellular adhesion molecule-1 (ICAM-1) and surfactant protein A (SP-A) were detected after the induction of anesthesia (T1),before cardiopulmonary bypass (CPB)(T2),immediately after the onset of the CPB (T3),30 min after CPB (T,) and 60 min after CPB (T5),and the respiratory index (RI) was calculated at the above time points,as well.Lung tissues were collected during operation for nuclear factor-κB (NF-κB) detection and pathological analysis.Results Compared with the control group,arterial partial pressures of oxygen (PaO2) were decreased at T3,T4 and T5,and RI values were increased at T2,T3,T4 and T5 in the observation group(P＜ 0.05).After surgery,the serum levels of ICAM-1 and expression levels of NF-κB in both two groups were increased,and serum levels of SP-A in both two groups were decreased;moreover,the levels of ICAM-1 and NF-κB in the observation group were significantly higher than those in the control group (P＜0.05),and the level of SP-A in the observation group was significantly lower than that in the control group (P＜0.05).The lung histopathological changes showed alveolar swelling,neutrophil infiltration and interstitial exudation in the observation group,and inflammation in the observation group was more obvious than that in the control group.Conclusion Comparing with thoracotomy cardiac surgery,lung injury is more serious in thoracoscopic cardiac surgery with OLV.
RESUMO
Objective To observe the effects of treadmill training on hindlimb motor recovery and noradrenaline (NA) fibers in rats with spinal cord contusion.MethodsSpinal cord contusions at the T10 level were induced in 3-month old female SD rats by dropping a 10 g rod from a height of 25 mm.The injured rats were then randomly divided into a control group and a treadmill training group ( n =15 in each group).Treadmill training began 1 week post-injury.No treatment was administered to the control group rats.Hindlimb motor function was evaluated weekly from the 1 st to the 9th week post-injury using Basso Beattie Bresnahan (BBB) scores and average combined scores (ACOs).The expression of dopamine beta hydroxylase (DBH) in the spinal cord caudal to the injured area was detected by immunohistochemical staining.ResultsThe treadmill training group exhibited significantly greater improvement in BBB scores from the 3rd week to the 7th week and in ACOs from the 2nd to the 9th week post-injury compared with the control group.The number of DBH positive fibers in the injured spinal cords and the number of DBH positive neurons in the injured frontal horns were also significantly higher in the training group.ConclusionsTreadmill training can promote the recovery of hindlimb motor function in rats after spinal cord contusion,perhaps by increasing the number of DBH positive fibers and DBH positive neurons.