OBJECTIVE: To explore the methods to detect and intervene children's late-onset hearing loss early which are suitable for basic-level hospitals. METHOD: Udiology and imaging diagnosis had been given to the children who passed the newborn hearing screening but showed auditory behavior disorders in the growth process, and individualized interventions were given according to the results of diagnosis. Seven children with high risk for hereditary deafness were sent to superior hospital and had molecular screening of common mutations of inherited deafness carried out, then corresponding prevention guidance and intervention were given to them. RESULT: Fifty-two cases with late-onset hearing loss or verbal disorders were detected by auditory behavior observations,including 4 cases of auditory neuropathy, 4 cases of unilateral sensorineural deafness, 27 cases of secretory otitis media. 13 cases of bilateral sensorineural deafness and 4 cases of autism. Seven newborns with high risk of hereditary deafness were sent to the Third Affiliated Hospital of Sun Yat-Sen University and received molecular screening of common mutations of inherited deafness. One case with GJB2 compound heterozygous mutations was detected and followed up to 4 years old, he was found bilateral moderate hearing loss and accepted the hearing aids at 2 years old. Mitochondrial DNA 1555 a > G heterogeneity mutation in 2 cases and GJB2 235 delC single heterozygous mutations in 3 cases, no mutation in 1 case, all these 6 cases have been followed-up until now, their hearing are normal. CONCLUSION Children's auditory behavior observations and the superior hospitals referral performing high risk individual screening for newborns with high risk for hereditary deafness can detect children's late-onset hearing loss in time, this model is suitable for basic-level hospitals.
Behavior Observation Techniques ; Child ; Connexin 26 ; Connexins ; genetics ; DNA Mutational Analysis ; DNA, Mitochondrial ; genetics ; Deafness ; diagnosis ; genetics ; Early Diagnosis ; Genetic Testing ; Hearing Tests ; Heterozygote ; Humans ; Infant, Newborn ; Male ; Mutation

Objective:To detect whether Toll-like receptor 4 ( TLR4) polymorphisms contributed to primary open angle glaucoma (POAG) in a Chinese population. Methods:A Chinese cohort, including 799 unrelated POAG patients and 799 unrelated controls, was enrolled in our case-control association study. The data was collected at Sichuan Provincial People's Hospital from May 2014 to March 2018. TLR4 functional single nucleotide polymorphisms (SNPs), including rs4986790 and rs4986791, were genotyped by SNaPshot method. Genotype and allele frequencies of the two SNPs were evaluated. This study was approved by the Institutional Review Boards of the Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital (No.2016-58), and complied with the guidelines of the Declaration of Helsinki. Written informed consents were obtained from all subjects prior to the study. Results:Allelic association analysis revealed that there were no significant association detected in the allelic distributions between the POAG cases and controls for SNPs rs4986790 ( P=0.317) and rs4986791 ( OR=1.000, 95% CI =0.062 5-16.002 2, P=1.000) in the TLR4 gene. Conditional analysis of the two SNPs did not show any significant difference in genotype and allele frequency between the case and the control groups. No association of the two SNPs with POAG was detected under four different genetic models, including homozygote, heterozygote, dominant and recessive models. Conclusions:Polymorphisms rs4986790 and rs4986791 in the TLR4 gene are not related to POAG in the Chinese cohort.

Objective:To evaluate the renal injury of ultrasound-guided percutaneous fascia dilatation with one-step and multi-step percutaneous renal dilatation on renal injury in pigs.Methods:20 experimental pigs were randomly divided into 16F group and 24F group, with 10 pigs in each group. Under the guidance of ultrasound, the left and right kidneys of each experimental pig in group 16F were expanded by percutaneous renal multi-step expansion and one-step expansion (multi-step dilation subgroup and one-step dilation subgroup respectively) with 16F expander, and the same operation was performed with 24F expander in 24F group. After the operation, the left and right kidneys were left with fistula tubes for 1 week. The duration of hematuria in the renal fistula tubes was observed and compared. One month later, the experimental pigs were killed and the kidneys were removed. The histopathology of each group was observed under the naked eye and microscope. The scar tissue around the nephrostomy channel was removed, and hematoxylin-eosin (HE) and Masson staining were performed respectively. The scar volume was measured by digital image analysis technology, and the percentage of the scar volume in the renal cortex volume was calculated.Results:There was no significant difference in gross hematuria duration between one-step dilation subgroup [(4.60±1.26)d] versus multi-step dilation subgroup [(4.70±1.17)d] of 16F group ( P>0.05); There was no significant difference in gross hematuria duration between one-step dilation subgroup [(5.40±1.25)d] versus multi-step dilation subgroup [(5.50±1.08)d] of the 24F group ( P>0.05). There was no significant difference in the gross and histological observation of pig kidney specimens in 16F group and 24F group. There was no significant difference in the scar volume of the fistula channel [(0.35±0.04)cm 3, (0.36±0.03)cm 3] and its percentage in the whole renal cortical volume [(0.41±0.05)%, (0.41±0.06)%] between one-step dilation subgroup versus multi-step dilation subgroup of 16F group (all P>0.05); there was no significant difference in the scar volume of the fistula channel [(0.48±0.02)cm 3, (0.49±0.04)cm 3] and its percentage in the whole renal cortical volume [(0.52±0.04)%, (0.53±0.07)%] between one-step dilation subgroup versus multi-step dilation subgroup of 24F group (all P>0.05). The scar volume and its percentage in the whole renal cortical volume of the one-step dilation subgroup and the multi-step dilation subgroup in the 24F group were higher than that of the 16F group, with statistically significant difference (all P<0.05). Conclusions:Both one-step and multi-step percutaneous renal dilatation have less damage to renal parenchyma. The multi-step dilatation has no obvious advantage over one-step dilatation in reducing renal parenchyma injury.