Objective To investigate the genetic causes of auditory neuropathy with optic atrophy in a family.Methods The proband's medical history and family history were inquired in detail,and relevant clinical examina-tions were performed to confirm the diagnosis of auditory neuropathy with optic atrophy,and the genetic pedigree of the family was drawn.Peripheral blood of proband(Ⅲ-7)was collected for whole exome sequencing,and the patho-genicity of the detected mutations were interpreted.Blood samples of proband's wife(Ⅲ-8),eldest daughter(Ⅳ-7),second daughter(Ⅳ-9)and son(Ⅳ-10)were tested for mutation sites by Sanger sequencing.Combined with clinical manifestations and examination results,the family was studied.Results The genetic pattern of this family was autosomal dominant.The proband showed decreased visual acuity at the age of 19,bilateral sensorineural deaf-ness at the age of 30,and decreased speech recognition rate.Among 20 members of the family of 5 generations,10(2 deceased)showed similar symptoms of hearing and visual impairment.Proband(Ⅲ-7),eldest daughter(Ⅳ-7)and son(Ⅳ-10)underwent relevant examination.Pure tone audiometry showed bilateral sensorineural deafness.ABR showed no response bilaterally.The 40 Hz AERP showed no response in both ears.OAE showed responses in some or all of the frequencies.No stapedial reflex was detected.The eye movement of Ⅲ-7 and Ⅳ-10 were reasona-ble in all directions,and color vision was normal.Ocular papilla atrophy was observed in different degrees in fundus examination.OCT showed thinning of optic disc nerve fibers in both eyes,and visual evoked potential showed pro-longed P100 wave peak.They were diagnosed as hereditary auditory neuropathy with optic atrophy.A mutation of the OPA1 gene c.1334G＞A(p.Arg445His,NM_015560.2)at a pathogenic locus on chromosome 3 was detected by whole exon detection in Ⅲ-7.The results of generation sequencing analysis showed that the OPA1 gene c.1334G＞A(p.Arg445His,NM_015560.2)mutation of chromosome 3 was also found in Ⅳ-7 and Ⅳ-10.Meanwhile,the gen-otypes of Ⅲ-8 and Ⅳ-9 were wild homozygous,that is,no mutation occurred.Conclusion The OPA1 c.1334G＞A(p.Arg445His,NM_015560.2)mutation site might be the pathogenic mutation in this family.

[This corrects the article DOI: 10.1016/j.apsb.2019.01.013.].

Bicyclol is a synthetic drug for hepatoprotection in clinic since 2004. Preliminary clinical observations suggest that bicyclol might be active against hepatitis C virus (HCV) with unknown mechanism. Here, we showed that bicyclol significantly inhibited HCV replication and in hepatitis C patients. Using bicyclol as a probe, we identified glycolipid transfer protein (GLTP) to be a novel restrictive factor for HCV replication. The GLTP preferentially bound host vesicle-associated membrane protein-associated protein-A (VAP-A) in competition with the HCV NS5A, causing an interruption of the complex formation between VAP-A and HCV NS5A. As the formation of VAP-A/NS5A complex is essential for viral RNA replication, up-regulation of GLTP by bicyclol reduced the level of VAP-A/NS5A complex and thus inhibited HCV replication. Bicyclol also exhibited an inhibition on HCV variants resistant to direct-acting antiviral agents (DAAs) with an efficacy identical to that on wild type HCV. In combination with bicyclol, DAAs inhibited HCV replication in a synergistic fashion. GLTP appears to be a newly discovered host restrictive factor for HCV replication, Up-regulation of GLTP causes spontaneous restriction of HCV replication.

Objective To explore the relationship between brain injury related symptom groups and acute stress disorder( ASD). Methods Totally 301 patients with brain injury hospitalized in the Affiliated Hospital of North China University of Technology from March 2017 to March 2018 were recruited. The pa-tients were assessed by Stanford Acute Stress Response Questionnaire ( SASRQ), Brain Trauma Subscale (BIS) and Pittsburgh Sleep Quality Index (PSQI). Results The prevalence of acute stress disorder pa-tients with brain injury was 46. 51% (140/301). The SASRQ score of all patients with brain injury was (70. 78±28. 00). Univariate analysis showed that there were significant differences in age (χ2= 4. 172,P=0. 041),personality type (χ2= 57. 281,P<0. 001),sleep quality ( χ2= 70. 785,P<0. 001),hospitalization frequency (χ2= 43. 547,P<0. 001),depression,obsessive-compulsive and hostile symptoms between pa-tients with and without ASD ( P<0. 05). The scores of depression and obsessive-compulsive symptoms were significantly correlated with SASRQ scores(P<0. 05). The scores of hostility symptoms were significantly cor-related with SASRQ scores except for patients who lost their temper uncontrollably ( r=0. 176-0. 698,P<0. 05). Personality ( OR=0. 243,95% CI=0. 142-0. 415),sleep disorders( OR=0. 072,95% CI=0. 029-0. 178),hospitalization times(OR=0. 129,95%CI=0. 054-0. 306),depressive symptoms( OR=1. 260,95% CI=1. 061-1. 497),obsessive-compulsive symptoms(OR=1. 419,95%CI=1. 239-1. 625) and hostile symp-toms(OR=1. 253,95%CI=1. 058-1. 482) were the influencing factors of ASD in patients with brain injury (P<0. 05). Conclusion The incidence of ASD is higher in patients with brain injury. Personality type,hos-pitalization,sleep quality,depressive symptoms,obsessive-compulsive symptoms and hostile symptoms are the influencing factors,which should be paid more attention.

Objective: To analyze the clinical characteristics of community-acquired pneumonia (CAP) in children under five years of age and analyze the safety and efficiency of nasal continuous positive airway pressure (NCPAP) ventilation for CAP in this population. Method: This was a prospective multicenter study. Children who were admitted to these six centers with CAP and met the NCPAP ventilation indications, aged from 29 d to 5 years, were continuously included during November 2013 to October 2015. The baseline data were collected and NCPAP ventilation were then followed up by operation standards, and the vital signs and arterial blood gas change at special time points were observed and recorded. Any side effect associated with NCPAP were recorded. For categorical variables, comparisons were performed using Fisher test. Rank-sum test and t test were performed respectively for abnormal and normal distribution continuous variables. The variables pre-NCPAP and post-NCPAP were analyzed by repeated measures ANOVA analysis. Result: Totally 145 children were included, and 13 children were excluded due to incomplete data. One hundred and two children(77.3%)were ≤12 months; 91 children (68.9%) were from rural area. NCPAP ventilation was effective in 123 children, with a response rate of 93.2%, were all discharged with a better condition; it was ineffective in 9 children(6.8%), and they were all intubated and went on mechanical ventilation, 5 were discharged with a better condition, and 4 died after gaving up treatment. The gender, age, body weight, residence, main symptoms, main signs, imaging diagnosis, medications, partial pressure of oxygen(PaO₂), breath and heart rate before NCPAP treatment of two groups had no significant differences(allP>0.05). The rates of combining underlying diseases, trouble with feeding and cyanosis, and the partial pressure of carbon dioxide(PaCO₂ ) before NCPAP ventilation were higher in NCPAP ineffective group ((59±11 )vs.( 49±11) mmHg, 1 mmHg=0.133 kPa, t=-2.597, P=0.028); while the PaO₂/fraction of inspiration O₂ (FiO₂ ) before NCPAP was lower((150±37) vs. (207±63) mmHg, t=2.697, P=0.008). The breathing, heart rate and PaCO₂ of NCPAP effective group decreased significantly, while the PaO₂ and PaO₂/FiO₂ increased significantly after 2, 8, 24 h of NCPAP ventilation(all P=0.000). PaCO₂ in children with hypercapnia before NCPAP ventilation in NCPAP effective group decreased significantly ((48±9), (47±12), (45±11)vs.(58±7)mmHg, all P=0.000). All children tolerated well to NCPAP ventilation, and there were no severe side effects or complications associated with NCPAP ventilation. Conclusion NCPAP ventilation is safe and effectively improved the oxygenation and hypercapnia in infants with CAP. But it may not work well in children with underlying diseases, manifest as difficulty in feeding/cyanosis and extremely high PaCO₂ or low PaO₂/FiO₂, and they may need early intubation.

In the current situation,how to adapt to the new medical reform and determine its development goal has become the primary concern of the managers of No.1 Affiliated Hospital of Hebei North University.The internal and external conditions were analyzed by the method of SWOT and the advantages,disadvantages,opportunities and challenges facing the hospital were also observed.Finally,a series of countermeasures were put forward in accordance with the strategies by SWOT.

OBJECTIVETo detect plasma miR-106a level in patients with colorectal cancer (CRC) and analyze its correlation to the clinicopathological features and disease diagnosis.

METHODSmiRNA expression profiling was performed using miRNA microarray chip for 3 colorectal adenocarcinoma samples and matched normal tissues. Plasma samples was collected from 50 colorectal cancer patients for quantitative analysis of miR-106a using real-time RT-PCR using 47 plasma samples from healthy volunteer as the control. Forty plasma samples were collected from these patients 7 days after operation to examine the changes in miR-106a expression.

RESULTSmiR-106a was differentially expressed in colorectal adenocarcinoma compared to normal tissues. The plasma levels of miR-106a expression were significantly higher in the cancer patients than in the healthy control group (P=0.012). miR-106a expression significantly decreased after the operation compared with its preoperative level (P<0.01), and no correlation was found between preoperative plasma miR-106a and the clinicopathological features including lymph node metastasis and TNM stage (P>0.05). miR-106a showed a receiver operating characteristic (ROC) curve area of 66.1%, a sensitivity of 62.3%, and a specificity of 68.2% in discriminating colorectal cancer patients from the control subjects.

CONCLUSIONplasma miR-106a is up-regulated in CRC patients, suggesting its potential value for the diagnosis of CRC.

Adult ; Aged ; Case-Control Studies ; Colorectal Neoplasms ; blood ; diagnosis ; Female ; Humans ; Lymphatic Metastasis ; Male ; MicroRNAs ; blood ; Middle Aged ; Sensitivity and Specificity ; Up-Regulation

Objective To explore the application effect of tin powder combined with the silver ion dressings on the nursing of the diabetic foot ulcer .Methods One hundred and twenty patients with the diabetic foot ulcer from January 2012 to March 2012 were chosen and were divided into the control group ( n=56 ) and the observation group ( n=64 ) according to the random number table .The control group received the tin powder dressings, and the observation group received the tin powder combined with the silver ion dressings .The cure rate of ulcer and the times of changing the dressings were compared between two groups 15 days after the intervention.Results The cure rate of ulcer in the observation group was 76.56%, and was higher than 62.51%in the control group;the times of changing the dressings were (3.64 ±0.86) in the observation group , and were less than (6.31 ±1.65) in the control group, and the differences were statistically significant (χ2/t=2.128, 3.224, respectively;P<0.05).Conclusions The application of tin powder combined with the silver ion dressings on the diabetic foot ulcer can increase the cure rate of ulcer , and reduce the times of changing the dressings.

Objective To detect plasma miR-106a level in patients with colorectal cancer (CRC) and analyze its correlation to the clinicopathological features and disease diagnosis. Methods miRNA expression profiling was performed using miRNA microarray chip for 3 colorectal adenocarcinoma samples and matched normal tissues. Plasma samples was collected from 50 colorectal cancer patients for quantitative analysis of miR-106a using real-time RT-PCR using 47 plasma samples from healthy volunteer as the control. Forty plasma samples were collected from these patients 7 days after operation to examine the changes in miR-106a expression. Results miR-106a was differentially expressed in colorectal adenocarcinoma compared to normal tissues. The plasma levels of miR-106a expression were significantly higher in the cancer patients than in the healthy control group (P=0.012). miR-106a expression significantly decreased after the operation compared with its preoperative level (P<0.01), and no correlation was found between preoperative plasma miR-106a and the clinicopathological features including lymph node metastasis and TNM stage (P>0.05). miR-106a showed a receiver operating characteristic (ROC) curve area of 66.1%, a sensitivity of 62.3%, and a specificity of 68.2%in discriminating colorectal cancer patients from the control subjects. Conclusion plasma miR-106a is up-regulated in CRC patients, suggesting its potential value for the diagnosis of CRC.

Objective To detect plasma miR-106a level in patients with colorectal cancer (CRC) and analyze its correlation to the clinicopathological features and disease diagnosis. Methods miRNA expression profiling was performed using miRNA microarray chip for 3 colorectal adenocarcinoma samples and matched normal tissues. Plasma samples was collected from 50 colorectal cancer patients for quantitative analysis of miR-106a using real-time RT-PCR using 47 plasma samples from healthy volunteer as the control. Forty plasma samples were collected from these patients 7 days after operation to examine the changes in miR-106a expression. Results miR-106a was differentially expressed in colorectal adenocarcinoma compared to normal tissues. The plasma levels of miR-106a expression were significantly higher in the cancer patients than in the healthy control group (P=0.012). miR-106a expression significantly decreased after the operation compared with its preoperative level (P<0.01), and no correlation was found between preoperative plasma miR-106a and the clinicopathological features including lymph node metastasis and TNM stage (P>0.05). miR-106a showed a receiver operating characteristic (ROC) curve area of 66.1%, a sensitivity of 62.3%, and a specificity of 68.2%in discriminating colorectal cancer patients from the control subjects. Conclusion plasma miR-106a is up-regulated in CRC patients, suggesting its potential value for the diagnosis of CRC.