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Objective:To analyze the mutation types and frequency of deafness genes in Ningbo newborns. Methods:From January to September, 2019, 1781 newborns in Ningbo Women and Children's Hospital accepted deafness gene screening, including 22 mutations of four common deafness genes. Results:There were 104 newborns who were found deafness gene mutation (5.84%), 59 boys and 45 girls. Mutation rate was 3. 31% (59/1781) for GJB2, 0.56% (10/1781) for GJB3, 0.39% (7/1781) for mtDNA, and 1.57% (28/1781) for SLC26A4. Conclusion:The mutation rate of deafness gene in newborns in Ningbo is higher than the China average level, especially the rate of GJB2. It is necessary to screen newborn deafness gene earlier.
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OBJECTIVE: To explore the effect of electroacupuncture (EA) at "Zusanli" (ST36) on gastrointestinal motility and expression of autophagy marker LC3 and autophagy signaling pathway molecule AMP-activated protein kinase (AMPK) in rats with functional dyspepsia (FD), so as to explore its mechanisms underlying improvement of FD. METHODS: A total of 40 male SD rats were randomly divided into blank control, model, EA, AMPK inhibitor and EA＋AMPK inhibitor groups, with 8 rats in each group. The FD model was established by tail-clip (30 min/time, twice daily) ＋ single day feeding, and gavage of normal saline (2 mL/time, twice a day) for 2 successive weeks. For rats of EA and EA＋AMPK inhibitor groups, EA (4 Hz, 1.0 mA) was applied to bilateral ST36 for 20 min, once daily for 7 successive days. For rats of the AMPK-inhibitor and EA＋AMPK inhibitor groups, Compound C (20 mg/kg) solution was administered by intraperitoneal injection before every EA administration. The gastric residual rate and small intestinal transit rate were calculated based on the weight of stomach and length of ink propelling and total small intestine, respectively. The expression levels of c-kit, microtubule-associated protein 1 light chain 3, Beclin 1, phosphorylated (p)-AMPK and p-unc-51 like autophagy activating kinase 1(ULK1) in the gastric antrum tissue were detected by using Western blot. RESULTS: Compared with the blank control group, the gastric residual rate and the expression levels of LC3-Ⅱ/LC3Ⅰ， Beclin 1, p-AMPK and p-ULK1 proteins were significantly increased, and the small intestinal transit rate and the expression of c-kit protein obviously decreased in the model group (P0.05). CONCLUSION: EA at ST36 can promote gastrointestinal motility in FD rats, which is possibly mediated by inhibiting excessive autophagy of interstitial cells of Cajal via down-regulating AMPK/ULK1 signaling.
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Objective To investigate the induction of microRNA (microRNA-106a,miR-106a)on the peritoneal metastasis of human gastric cancer cell BGC-823 by regulating matrix metalloproteinase inhibitor 2 (tissue inhibitor of metalloproteinases 2,TIMP2).Methods Human gastric cancer cell line BGC-823 was cultured to the logarithmic growth phase. The cells were divided into three groups: BGC-823, BGC-823/anti-miR-106a (antagomir)and BGC-823/negative control.Real-time PCR was used to identify the effect of antagomir.Transwell assay was used to detect the cell migratory and invasive abilities of these three groups in vitro .With small incision, the cells were injected into the abdominal cavity of nude mice to prepare a xenograft model.The animals were divided into two groups:miR-antagomir and miR-NC.The tumor growth in the nude mice was generally observed and estimated.Immunohistochemistry and Western blot methods were used to detect the expression of metastasis-associated protein TIMP2 on the several abdominal organs.Results The expression level of miR-106a was down- regulated in BGC-823/anti-miR-106a group,with the fold change of 0.05±0.01,which was significantly different from that in NC group (t=-18.001,P＜0.001).In vitro exogenously silencing of miR-106a gene,the numbers of invasive and migratory cells in BGC-823/anti-miR-106a group were both significantly lower than those in BGC-823 and BGC-823/negative control groups (P＜0.001).In vivo xenograft model showed that the down-regulation of miR-106a weakened the peritoneal metastasis ability of BGC-823 cells in nude mice abdominal cavity,which was reflected by the decrease of tumor number and tumor size.With the inhibition of miR-106a,the expression of TIMP2 in miR-antagomir group was significantly higher than that in miR-NC group (P＜0.05).Conclusion BGC-823 cell has the tumorigenicity in nude mice.Silencing of miR-106a inhibits gastric cancer cell metastasis, which suggests that it has the oncogenic function.MiR-106a may induce the strengthened peritoneal metastasis ability of BGC-823 cell through acting on TIMP2.
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<p><b>BACKGROUND</b>Nonanesthetic colonoscopy is popular in clinical practice in China. However, intestinal spasms often result in a prolonged examination time, increased operating difficulties, decreased polyp detection rate, and failure to complete the procedure clinically. Therefore, exploring alternative approaches that can reduce the pain in patients during colonoscopy is of utmost importance, and finding the optimal preoperative administration to improve the quality of nonanesthetic colonoscopy is also necessary. This study aimed to investigate the effects of the prophylactic administration of pinaverium bromide before colonoscopy and the effects of pinaverium bromide alone at different time points or combined with scopolamine butylbromide.</p><p><b>METHODS</b>A randomized controlled trial was performed on a cohort of 1000 patients who underwent colonoscopy in outpatient clinic of Wuhan Union Hospital. The patients were randomly assigned to the following groups: Group A, given oral pinaverium bromide (100 mg, three times a day) one day before examination combined with intramuscular injection of scopolamine butylbromide (20 mg) 10 min before colonoscopy; Group B0, given pinaverium bromide alone on the day of colonoscopy (100 mg, three times a day); Group B1, given pinaverium bromide alone (100 mg, three times a day) one day before colonoscopy; Group B2, given pinaverium bromide alone (100 mg, three times a day) two days before colonoscopy; and Group C, given scopolamine butylbromide alone (20 mg) before colonoscopy. The successful rate of colonoscopy, procedure time, degree of abdominal pain, and polyp detection rate were recorded and compared among all groups.</p><p><b>RESULTS</b>The successful rate of colonoscopy in Group B1(82.0%) and Group B2(83.0%) was significantly higher than that in Group B0(62.0%, all P < 0.01). The time to reach the ileocecal region in Group B1and Group B2were lower than those in Group B0(all P < 0.05). However, no significant differences were observed in polyp detection rate between Group B1(24.0%) or Group B2(26.0%), and Group B0(22.4%, all P > 0.05). Furthermore, there were no significant differences in the various parameters examined between Group B1and Group B2(P > 0.05). The successful rate of colonoscopy in Group A (92.0%) was significantly higher than that in Group B1(82.0%) and Group C (80.0%; both P < 0.05). Moreover, the time for the colonoscope to reach the ileocecal region in Group A were markedly shorter as compared to those in Group B1 and Group C (P < 0.05). The polyp detection rate in Group A was 32.0%, significantly higher than that in Group B1(24.0%, P < 0.05) and Group C (24.2%, P < 0.05).</p><p><b>CONCLUSION</b>Administration of pinaverium bromide alone one day before examination was beneficial to relieve symptoms of abdominal pain during nonanesthetic colonoscopy. In addition, therapeutic effects were improved when pinaverium bromide administration was combined with intramuscular injection of scopolamine butylbromide. Therefore, the combined use of pinaverium bromide with scopolamine butylbromide might have great application value to improve the quality of nonanesthetic colonoscopy in the preoperative preparation.</p>
Subject(s)
Adult , Female , Humans , Male , Middle Aged , Abdominal Pain , Colonoscopy , Methods , Double-Blind Method , Morpholines , Therapeutic Uses , Preoperative PeriodABSTRACT
No direct comparison of tauroursodeoxycholic acid (TUDCA) and ursodeoxycholic acid (UDCA) has yet been carried out in the treatment of liver cirrhosis in China. We designed a double-blind randomized trial to evaluate the potential therapeutic efficacy of TUDCA in liver cirrhosis, using UDCA as parallel control. The enrolled 23 patients with liver cirrhosis were randomly divided into TUDCA group (n=12) and UDCA group (n=11), and given TUDCA and UDCA respectively at the daily dose of 750 mg, in a randomly assigned sequence for a 6-month period. Clinical, biochemical and histological features, and liver ultrasonographic findings were evaluated before and after the study. According to the inclusion criteria, 18 patients were included in the final analysis, including 9 cases in both two groups. Serum ALT, AST and ALP levels in TUDCA group and AST levels in UDCA group were significantly reduced as compared with baseline (P<0.05). Serum albumin levels were significantly increased in both TUDCA and UDCA groups (P<0.05). Serum markers for liver fibrosis were slightly decreased with the difference being not significant in either group. Only one patient in TUDCA group had significantly histological relief. Both treatments were well tolerated and no patient complained of side effects. It is suggested that TUDCA therapy is safe and appears to be more effective than UDCA in the treatment of liver cirrhosis, particularly in the improvement of the biochemical expression. However, both drugs exert no effect on the serum markers for liver fibrosis during 6-month treatment.
Subject(s)
Adult , Female , Humans , Male , Middle Aged , Cholagogues and Choleretics , Therapeutic Uses , Double-Blind Method , Liver Cirrhosis , Diagnosis , Drug Therapy , Taurochenodeoxycholic Acid , Therapeutic Uses , Treatment Outcome , Ursodeoxycholic Acid , Therapeutic UsesABSTRACT
No direct comparison of tauroursodeoxycholic acid (TUDCA) and ursodeoxycholic acid (UDCA) has yet been carried out in the treatment of liver cirrhosis in China. We designed a double-blind randomized trial to evaluate the potential therapeutic efficacy of TUDCA in liver cirrhosis, using UDCA as parallel control. The enrolled 23 patients with liver cirrhosis were randomly divided into TUDCA group (n=12) and UDCA group (n=11), and given TUDCA and UDCA respectively at the daily dose of 750 mg, in a randomly assigned sequence for a 6-month period. Clinical, biochemical and histological features, and liver ultrasonographic findings were evaluated before and after the study. According to the inclusion criteria, 18 patients were included in the final analysis, including 9 cases in both two groups. Serum ALT, AST and ALP levels in TUDCA group and AST levels in UDCA group were significantly reduced as compared with baseline (P<0.05). Serum albumin levels were significantly increased in both TUDCA and UDCA groups (P<0.05). Serum markers for liver fibrosis were slightly decreased with the difference being not significant in either group. Only one patient in TUDCA group had significantly histological relief. Both treatments were well tolerated and no patient complained of side effects. It is suggested that TUDCA therapy is safe and appears to be more effective than UDCA in the treatment of liver cirrhosis, particularly in the improvement of the biochemical expression. However, both drugs exert no effect on the serum markers for liver fibrosis during 6-month treatment.
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<p><b>OBJECTIVE</b>To study the electromyographic and genetic characteristics in children with Charcot-Marie-Tooth disease type 1 (CMT1).</p><p><b>METHODS</b>Routine electromyography and nerve conduction were performed in 24 children with CMT1. Polymerase chain reaction (PCR) combined with restriction enzyme digestion was used to detect gene duplication on chromosome 17p11.2-12. Ten healthy children served as the control group.</p><p><b>RESULTS</b>The peripheral nerve conduction velocity slowed or disappeared in all of the 24 patients (100%). The lesions of the sensory nerves were more severe than the motor nerves, and the lesions of the lower limbs were more severe than the upper limbs. Of 72 muscles detected, 40 (56%) showed neurogenic lesions. The older the patients, the more severe the muscle lesions. Specific junction fragments (1760 bp) were identified in 13 (54%) out of 24 patients, but were not identified in the healthy controls.</p><p><b>CONCLUSIONS</b>The electromyographic changes are characterized by peripheral nerve conduction velocities slowing and neurogenic lesions of muscles in children with CMT1. The PCR combined with restriction enzyme digestion may be a simple and accurate method for gene diagnosis of CMT1.</p>
Subject(s)
Adolescent , Child , Female , Humans , Male , Charcot-Marie-Tooth Disease , Genetics , Electromyography , Neural ConductionABSTRACT
To interpret the flash evoked potential (FVEP) as dynamic high-order responses to natural and experimental stimulation in healthy preterm infants, waveform analysis of FVEP in 36 healthy preterm infants (postconceptional age 28~42 weeks) were performed using an autoregressive analysis. Based on the histogram of damping frequency of different component impulse response waveforms, the waveforms were divided into 4 groups: group I (0 ~ <2 Hz), group II (2 ~ <6.5 Hz), group III (6.5 ~ <12.0 Hz) and group IV (12~25 Hz). The total power, power of component impulse responses (group I~IV), and damping time (group II~IV) changed significantly with increasing postconceptional age (P<0.01 or P<0.05). Identification of an impulse response component with dominant frequency which undergoes a well-identified change with age is considered to be a useful tool for discriminating between normal and abnormal changes in the FVEP with age in healthy preterm infants.