The mental health of paediatric cochlear implant recipients.

OBJECTIVES: To evaluate the mental health of paediatric cochlear implant users and analyse the relationship between six dimensions (movements, cognitive ability, emotion and will, sociality, living habits and language) and hearing and speech rehabilitation. METHODS: Eighty-two cochlear implant users were assessed using the Mental Health Survey Questionnaire. Age at implantation, time of implant use and listening modes were investigated. Categories of Auditory Performance and the Speech Intelligibility Rating Scale were used to score hearing and speech abilities. RESULTS: More recipients scored lower in cognitive ability and language. Age at implantation was statistically significant (p < 0.05) for movements, cognitive ability, emotion and will, and language. The time of implant usage and listening mode indicated statistical significance (p < 0.05) in cognitive ability, sociality and language. CONCLUSION: Timely attention should be paid to the mental health of paediatric cochlear implant users, and corresponding psychological interventions should be implemented to make personalised rehabilitation plans.

The value of nonverbal intelligence in cochlear implant.

BACKGROUND: Congenital sensorineural hearing loss is a common congenital condition. OBJECTIVES: The purpose of this study was to assess the correlation between nonverbal mental development and the effect of post-cochlear implant in children. MATERIAL AND METHODS: The study is a retrospective analysis of the CI program implemented at the ENT in the Lanzhou University Second Hospital (China). We reviewed data of 225 children who received CI between 2015 and 2018. Finally, 115 children met the inclusion criteria. Our hospital used The Griffith mental development scales to evaluate the preoperative non-verbal intelligence. The outcome of CI was evaluated using the categories of IT-MAIS, MUSS, CAP and SIR at 2 years after surgery. The associations between the preoperative non-verbal development quotient (DQ) and the postoperative outcomes were analyzed. RESULTS: Preoperative non-verbal DQ correlates with the long-term postoperative result, especially the Eye-hand co-ordination and Performance DQ. CONCLUSIONS AND SIGNIFICANCE: Preoperative non-verbal intelligence would predict postoperative effect. The single postoperative scale does not fully reflect the postoperative result.

Pharyngeal Ectopic Thymus: A Case Report.

Pharyngeal ectopic thymus is a rare cause of pharyngeal masses and is rarely considered in the differential diagnosis of neck and head masses in children. In this paper, the case of an infant with a pharyngeal ectopic thymus is presented and our intraoral surgical approach in the patient's treatment is described.

Targeted next-generation sequencing identified a novel variant of SOX10 in a Chinese family with Waardenburg syndrome type 2.

OBJECTIVE: Waardenburg syndrome type 2 (WS2) is an autosomal dominant syndrome, characterized by bright blue eyes, hearing loss, and depigmented patches of hair and skin. It exhibits high phenotypic and genetic heterogeneity. We explored the molecular etiology in a Chinese family with WS2. METHODS: We recruited a three-generation family with three affected members. Medical history was obtained from all family members who underwent detailed physical examinations and audiology tests. Genomic DNA was extracted from peripheral blood of each individual, and 139 candidate genes associated with hearing loss were sequenced using Illumina HiSeq 2000 (Illumina Inc., San Diego, CA, USA) and verified by Sanger sequencing. RESULTS: Genetic evaluation revealed a novel nonsense heterozygous variant, NM_006941.4: c.342G>A (p.Trp114Ter) in exon 2 of the SOX10 gene in the three affected patients; no unaffected family member carried the variation. We did not detect the variation in 500 Chinese individuals with normal hearing or in 122 unrelated Chinese families with hearing loss, suggesting that it was specific to our patients. CONCLUSIONS: We identified a novel heterozygous nonsense variation in a family with syndromic hearing loss and WS2. Our findings expand the pathogenic spectrum and strengthen the clinical diagnostic role of SOX10 in patients with WS2.

The mutation frequencies of GJB2, GJB3, SLC26A4 and MT-RNR1 of patients with severe to profound sensorineural hearing loss in northwest China.

OBJECTIVE: To expose the spectrum and frequency of GJB2, GJB3, SLC26A4 and MT-RNR1 in northwest China and to investigate the underlying causative genes in patients without common mutations. METHODS: We analyzed the mutation screening results of GJB2, GJB3, SLC26A4 and MT-RNR1 in 398 unrelated severe-to-profound probands with bilateral, symmetrical sensorineural hearing loss. Subsequently, we selected 10 probands with a significant family history of inherited hearing loss (HL) that did not have the above four common gene mutations to perform next-generation sequencing (NGS) of 139 known deafness genes, followed by co-segregation analysis of all available family members. RESULTS: Among the 398 patients, 69 (17.34%) had the biallelic GJB2 gene mutations, and the most common mutations were c.235delC, c.109G>A and c.299_300delAT, with allele frequencies of 12.31%, 3.38% and 3.89%, respectively. A total of 63 (15.83%) cases with biallelic SLC26A4 mutations were detected, and the most common pathogenic alleles were c.919-2A>G, c.2168A>G and c.1174A>T, with allele frequencies of 9.17%, 2.26% and 0.88%, respectively. Mitochondrial gene mutations were detected in 9 (2.26%) patients, with 5 cases of mitochondrial DNA (mtDNA) m.1555A>G mutation and 4 cases of mtDNA m.1095T>C mutation. In 10 probands with a clear family history of HL, NGS showed two novel pathogenic variants in 2 families, including c.4129C>T/c.3268C>T in LOXHD1, c.334G>A/c.2968G>T in CDH23. Sanger sequencing confirmed that these variants segregated with the HL in each family. CONCLUSIONS: Our results showed that GJB2 and SLC26A4 were the two major HL-causing genes in northwest China. The most common mutation alleles in GJB2 were c.235delC, c.109G>A and c.299_300delAT, and those in SLC26A4 were c.919-2A>G, c.2168A>G and c.1174A>T. In addition, both genes and their loci can be used as the first selection of deafness gene screening. Additionally, for patients who did not have mutations of these common genes, NGS provided an efficient diagnosis for increasing known deafness genes.

Targeted next-generation sequencing identifies a novel frameshift EYA1 variant causing branchio-otic syndrome in a Chinese family.

OBJECTIVE: To evaluate the genotype-phenotype correlation of branchio-otic syndrome (BOS) in a Chinese family. METHODS: The proband in this study was an 18-month-old boy with hearing loss, preauricular pit, and branchial fistula without a renal anomaly. We collected blood samples from 6 family members, including 4 who were affected by the syndrome. Targeted next-generation sequencing and Sanger sequencing were performed to identify pathogenic mutations in this family. RESULTS: Pedigree analysis indicated that the mode of inheritance in the family was consistent with the autosomal dominant pattern. Hearing loss was the most common manifestation, occurring in 4 patients. Other findings included preauricular pits (n=2), cervical fistulas (n=3) and abnormal pinnae (n=4). None of the patients had renal anomalies. Evaluation by pure-tone audiometry and temporal bone imaging demonstrated bilateral mixed hearing loss, as well as middle ear and inner ear deformities, in two patients. Mutational analysis of candidate genes in the selected patients led to the identification of a novel frameshift variant NM_000503.4: c.1075_1077delinsAT (p.Gly359Ilefs*7) in the EYA1 gene. CONCLUSIONS: The EYA1 c.1075_1077delinsAT mutation is the causative variant in the Chinese family with BOS, although the penetrance is variable within patients.

Improving the Supercapacitor Performance by Dispersing SiO2 Microspheres in Electrodes.

This paper describes a simple, reproducible, and scalable procedure for the preparation of a SiO2-containing supercapacitor with high cycle stability. A carbon mesoporous material (CMM) with a high specific surface area, CMK-3, was adopted as an electric double-layer capacitor (EDLC) active material for the preparation of electrodes for the supercapacitor. The optimized SiO2 content decreased as the microsphere diameter decreased, and the optimal specific capacitance was obtained with 6 wt % SiO2 microspheres (100 nm size). The capacitance improved from 133 to 298 F/g. The corresponding capacitance retention rate after 1000 cycles increased from 68.04 to 91.53%. In addition, the energy density increased from 21.05 to 26.25 Wh/kg with a current density of 1 A/g. Finally, similar results based on active carbon, CeO2/CMK-3, and graphene/CNT/MnOv composite electrodes demonstrated that the proposed method exhibits wide compatibility with diverse electrode materials.

The deafness-causing mutation c.508_511dup in the GJB2 gene and a literature review.

CONCLUSIONS: The mutation c.508_511dup in GJB2 gene has been incorrectly named as other mutations. It is essential to standardize mutation nomenclature to describe complex mutations. OBJECTIVES: This paper aimed to verify a series of patients with the frame-shift mutation c.508_511dup in the GJB2 gene and review the literature on related mutations. METHODS: All the included patients with non-syndromic hearing loss (NSHL) carried the 504insAACG or c.508_511dup mutation of the GJB2 gene in the present study. Their parents were encouraged to participate. After written informed consent and clinic data had been obtained, genomic DNA was extracted from venous blood of participants. The target fragments were amplified by polymerase chain reaction (PCR) and subjected to bidirectional sequencing to identify sequence variations. RESULTS: A total of 14 patients with prelingual NSHL and 6 normal parents were recruited. Genotyping revealed that one mutation, c.508_511dup (not 504insAACG), was homozygous in 1 patient, heterozygous in 2 patients and 3 parents, and compound heterozygous in 11 patients. Twelve patients had hearing loss caused by c.508_511dup in a homozygous or compound heterozygous form, and further study showed that it was wrongly named as 504insAACG. Additionally, according to the standard nomenclature, the previously reported mutations with distinct names from the literature review may be replaced by c.508_511dup.

Analysis of common deafness gene mutations in deaf people from unique ethnic groups in Gansu Province, China.

CONCLUSIONS: The GJB2 gene mutation characteristic of Dongxiang was the interaction result of ethnic background and geographical environment, and Yugur exhibited the typical founder effect. The SLC26A4 gene mutation characteristic of Dongxiang was related to caucasian backgrounds and selection of purpose exons, i.e. ethnic background and the penetrance of ethnic specificity caused the low mtDNA1555A>G mutation frequency in Dongxiang. OBJECTIVES: To determine the prevalence of GJB2 and SLC26A4 genes and mtDNA1555A>G mutations and analyze the ethnic specificity in the non-syndromic sensorineural hearing loss (NSHL) of unique ethnic groups in Gansu Province. METHODS: Peripheral blood samples were obtained from Dongxiang, Yugur, Bonan, and ethnic Han groups with moderately severe to profound NSHL in Gansu Province. Bidirectional sequencing (or enzyme digestion) was applied to identify the sequence variations. RESULTS: The pathogenic allele frequency of the three gene mutations was different. The frequency of the GJB2 gene among the Dongxiang, Yugur, Bonan, and ethnic Han groups was 9.03%, 12.5%, 5.88%, and 12.17%, respectively. No difference was found between the ethnic groups. The frequencies of the SLC26A4 genes were 3.23%, 8.33%, 0%, and 9.81%, respectively. The mutation frequency of mtDNA1555A>G was 0%, 0%, 0%, and 6.03%, respectively. No difference was found between the ethnic groups, except for the Dongxiang and ethnic Han groups, both in SLC26A4 gene and mtDNA1555A>G.

Comparison of complications of the suprameatal approach and mastoidectomy with posterior tympanotomy approach in cochlear implantation: a meta-analysis.

BACKGROUND: Cochlear implantation (CI) is a popular procedure to preserve hearing in patients with severe-to-profound hearing loss. Evidence shows that the suprameatal approach (SMA) may help reducing the risk of the incidence of complications and shortening the surgery time, but there is still dispute. OBJECTIVES: The aim of this study was to compare the incidence of complications of SMA and the mastoidectomy with posterior tympanotomy approach (MPTA), and to find whether SMA yields better outcomes than MPTA. METHODS: We searched PubMed, the Cochrane Library, the Web of Science and Chinese Biomedical Literature databases, Chinese National Knowledge Infrastructure, the Chinese Science and Technology Journal Full-Text database, and Wangfang database. The latest data was accessed in March 2013. Review Manager 5.1 software was used for comprehensive quantification data analysis. RESULTS: Three studies were included in the meta-analysis, composed of 799 participants and reporting major and minor complications. The meta-analysis indicated no statistically significant difference in major and minor complications between the two approaches, except for facial nerve and chorda tympani injuries (OR = 0.13; 95% CI: 0.02, 0.67; p = 0.02; I(2) = 0%). CONCLUSIONS: Current evidence suggests that SMA may be clearly a good alternative to the classical surgery technique for CI in terms of reducing the incidence of facial nerve injury and chorda tympani sacrifice.

Analysis of quality of clinical practice guidelines for otorhinolaryngology in China.

OBJECTIVE: To evaluate the quality of clinical practice guidelines (CPGs) for otorhinolaryngology in China. MATERIALS AND METHODS: A systematic search of relevant literature databases (CBM, WANFANG, VIP, CNKI, China Guideline Clearinghouse) published between 1978 and March 2012 was undertaken to identify and select CPGs related to otorhinolaryngology. Four independent reviewers assessed the eligible guidelines using the Appraisal of Guidelines for Research and Evaluation (AGREE II) instrument. Their degree of agreement was evaluated using the intraclass correlation coefficient (ICC). RESULT: From 170 citations, 21 relevant guidelines were included. The overall agreement among reviewers was moderate (ICC = 0.87; 95% confidence interval [CI], 0.78-0.91). The scores for each of the AGREE domains were the following: "scope and purpose" (mean ± standard error [SE] = 45.4±4.4; ICC = 0.92), "stakeholder involvement" (mean ± SE = 30.4±3.1; ICC = 0.81), "rigor of development" (mean ± SE = 20.9±2.8; ICC = 0.87), "clarity of presentation" (mean ± SE = 48.8±3.7; ICC = 0.80), "applicability" (mean ± SE = 12.6±1.7; ICC = 0.72), and "editorial independence" (mean ± SE = 6.2±0.8; ICC = 0.76). Three guidelines (14%) mentioned updates, and the average update frequency was 7 years. None used the GRADE system. CONCLUSION: The quality of otorhinolaryngology guidelines in China is low. Greater efforts are needed to provide high-quality guidelines that serve as a useful and reliable tool for clinical decision-making in this field.

[Analysis of the hereditary etiology of 336 patients with non-syndromic sensorineural hearing loss from Ningxia Hui Autonomous Region of China].

OBJECTIVE: To investigate the molecular genetic causes and their characteristics of deafness in Ningxia province, we established screening of three common hereditary deafness genes in 336 deaf and hard-of-hearing patients in this district. METHODS: Peripheral blood samples were obtained from a total of 336 patients with non-syndromic sensorineural hearing loss in parts of special education schools in Ningxia province to extract genomic DNA. The mitochondrial DNA 12S rRNA m.1555A > G mutation was screened by PCR Alw26I digestion and sequence analysis PCR and direct sequencing were used to analyze the coding region of GJB2 and exons 8 and 19 of SLC26A4. Statistical analysis was performed by using SPSS 11.0 software. Frequencies of different GJB2 or SLC26A4 mutations were compared between Han and Hui people. RESULTS: Among these 336 patients, seven cases (2.08%, 7/336) were found to carry mtDNA 12S rRNA m.1555A > G homozygous mutation, 45 cases (13.39%) were caused by GJB2 mutations and 28 cases (8.33%) had two mutated alleles (homozygote and compound heterozygote) of SLC26A4. In detail, 16.67% (56/336) patients carried GJB2 mutations including 11 single mutant carriers. The allele frequency of c.235delC and c.299_300delAT were 9.52% (64/672) and 2.68% (18/672), respectively, making up 81.19% (82/101) of all pathogenic mutated alleles for GJB2. The single mutant allele carriers of SLC26A4 is 32, and two types (c.919-2A > G and c.2168A > G) accounted for 95.29% (24/27) mutations, totally. We also found that statistically significant differences in c.919-2A > G and c.2168A > G frequencies between Han and Hui people (c.919-2A > G, χ(2) = 8.229, P = 0.004; c.2168A > G, χ(2) = 5.277, P = 0.022). However, there was no statistically significant difference in GJB2 mutation between Han and Hui people. CONCLUSIONS: GJB2 mutation was a primary cause for non-syndromic sensorineural hearing loss in Ningxia province, and c.235delC was the most common mutant forms of GJB2. c.919-2A > G and c.2168A > G were common mutant forms of SLC26A4, their frequencies were also statistically significant differences between Han and Hui people.

Analysis of a large-scale screening of mitochondrial DNA m.1555A>G mutation in 2417 deaf-mute students in northwest of China.

The ancient Silk Road (also called "Northwest Silk Road") in Northwest China, starting from Xi'an, passes through Gansu, Xinjiang, Central Asia, West Asia, and the land passage connecting the Mediterranean countries. The aim of the present study was to determine the frequency of mitochondrial DNA12SrRNA m.1555A>G mutation in a total of 2417 cases of nonsyndromic deaf-mute patients representative of the general population of Shaanxi, Gansu, Qinghai, Ningxia, and Xinjiang along the Silk Road. Enzyme digestion and direct sequencing were applied to identify sequence variations. The carrier frequency of mitochondrial DNA12S rRNA m.1555A>G mutation was estimated to be 5.21% (126/2417) in the studied population. In detail, the carrier frequency of Uighur and Hui was 1.62% (3/185) and 3.29% (10/304), respectively, compared with 6.09% (113/1856) that of Han. There was a statistically significant difference between Uighur and Han (chi-square test, chi(2) = 6.437, p = 0.011 and p < 0.05), whereas no significant difference in m.1555A>G mutation spectrum or prevalence of mitochondrial DNA12SrRNA was found between Uighur and Hui or Hui and Han. In the 126 m.1555A>G mutation carriers, 52 cases were found to have a clear history of using aminoglycoside antibiotics. Results suggested that the application of aminoglycoside antibiotics in this region is an important reason for higher incidence of m.1555A>G mutation in the deaf-mute population.

Identification of two novel mutations, c.232T>C and c.2006A>T, in SLC26A4 in a Chinese family associated with enlarged vestibular aqueduct.

It is known that enlarged vestibular aqueduct syndrome is closely related to the SLC26A4 mutation. Up to date, more than 200 of SLC26A4 mutations have been described, and novel mutations are being continually identified in different countries and ethnic groups. In this study, two novel variations were identified in a Chinese family associated with enlarged vestibular aqueduct. The two novel substitutions, c.232T>C and c.2006A>T, were detected in exon 3 and exon 17 of the pendrin encoding gene, respectively. The T/C transversion at 232 nucleotide caused p.Y78H mutation while the A/T transversion at 2006 nucleotide caused p.D669V mutation.

[Clinical analysis of sphenoid disease manifesting orbital apex syndrome].

OBJECTIVE: To investigate the relationship of sphenoid disease and orbital apex syndrome and to improve the diagnosis of sphenoid disease. METHODS: Twelve patients with sphenoid disease manifesting orbital apex syndrome from 2000 to 2004 were retrospectively analyzed, especially the processes of both diagnosis and treatment. The factors which may lead to misdiagnosis were discussed. RESULTS: All the twelve patients failed to be correctly diagnosed at the ophthalmology department. Having been undergone CT or MRI, seven cases of sphenoiditis, three cases of polyps of sphenoidal sinus and two cases of sphenethmoid mucocele were confirmed respectively. All of the patients underwent endoscopic sphenoid surgery. The symptoms of the patients were improved or disappeared after the operations. CONCLUSIONS: The sphenoid disease with orbital apex syndrome was easily misdiagnosed. The possible causes of misdiagnosis were: low incidence of the disease, nonspecific eye symptoms, and unawareness of the doctor, especially ophthalmologist. CT or MRI are the gold standards of diagnosis of sphenoid disease. Endoscopic sinus surgery is effective and safe technique for the treatment of the disease.