Analysis of genotypes on 850 newborns with SLC26A4 single-allele mutation and the phenotypes of those with second variant / 中华耳鼻咽喉头颈外科杂志

Objective: To clarify the phenotypes of the newborns with SLC26A4 single-allele mutation in deafness genetic screening and second variant; to analyze the SLC26A4 genotype and hearing phenotype. Methods: 850 newborns born in Beijing from April 2015 to December 2019 were included and there were 468 males and 382 females. They received genetic deafness screening for 9 or 15 variants, with the result of SLC26A4 single-allele mutation. Firstly, three step deafness gene sequencing was adopted in this work, i.e., the first step was "SLC26A4 gene whole exons and splice sites" sequencing; the second step was "SLC26A4 gene promoter, FOXI1 gene and KCNJ10 gene whole exons" sequencing; and the third step was detection for "SLC26A4 gene copy number variation". Secondly, we collected the results of newborn hearing screening for all patients with the second mutation found in the three step test, and conducted audiological examinations, such as acoustic immittance, auditory brainstem response and auditory steady state response. Thirdly, for novel/VUS mutations, we searched the international deafness gene database or software, such as DVD, ClinVar and Mutation Taster, to predict the pathogenicity of mutations according to the ACMG guideline. Lastly, we analyzed the relationship between genotype and phenotype of newborns with SLC26A4 single allele mutation. Results: Among 850 cases, the median age of diagnosis was 4 months. In the first step, 850 cases were sequenced. A total of 32 cases (3.76%, 32/850) of a second variants were detected, including 18 cases (2.12%, 18/850) with identified pathogenic variants; 832 cases were sequenced and 8 cases of KCNJ10 gene missense variants were detected among the second step. No missense mutations in the FOXI1 gene and abnormal SLC26A4 gene promoter were detected; the third step sequencing results were all negative. Genotypes and hearing phenotypes included 18 cases combined with the second clear pathogenic variant, 16 cases (16/18) referred newborn hearing screening and 2 cases (2/18) passed in both ears; degree of hearing loss consisted of 18 profound ears (18/36), 13 severe ears (13/36) and 5 moderate ears (5/36); audiogram patterns comprised 17 high frequency drop ears (17/36), 14 flat ears (14/36), 3 undistinguished ears (3/36), and 2 U shaped ears (2/36); 11 cases underwent imaging examination, all of which were bilateral enlarged vestibular aqueduct. As for 22 cases of other genotypes, all passed neonatal hearing screening and the hearing diagnosis was normal, including 9 cases with VUS or possibly novel benign variants, 8 cases with KCNJ10 double gene heterozygous variants, and 5 cases with double heterozygous variants. Conclusions: The probability of individuals with SLC26A4 single-allele variant who merge with a second pathogenic variant is 2.12%, all of which are SNV, which can provide scientific basis for the genetic diagnosis and genetic counseling of SLC26A4 variants. Those who have merged with second pathogenic variant are all diagnosed with sensorineural hearing loss. Patients with KCNJ10 gene mutations do not manifest hearing loss during the infancy, suggesting the need for further follow-up.

An Analysis of Hearing Screening Results from 616 Preschool Children / 听力学及言语疾病杂志

Objective To explore the feasibility and effectiveness of otoacoustic emission (OAE) in hearing screening for preschool children .Methods A total of 616 preschool children aged 3～6 (mean age 4 .6 years old) were included in this study .All the subjects received transiently evoked otoacoustic emission (TEOAE) test by trained personnel .The children who failed the hearing screening received diagnostic examination in the hearing ex-amination center .Results Of 616 children ,66 (10 .71％ ) failed the hearing screening and 16 children received audi-ological assessment .In these 16 children ,8 had otitis media with effusion (5 with mild conductive hearing loss ) ,5 had impacted cerumen ,3 had normal hearing ,and none had sensorineural hearing loss .Conclusion OAE can be used effectively in the hearing screening for preschool children .But how to improve the referral rate of children who failed the hearing screening needs further discussion .

Clinical Observation of Scalp Acupuncture Combined with Swallowing and Speech Therapeutic Instrument for Treatment of Post-stroke Dysphagia / 广州中医药大学学报

Objective To observe the c linical effect of scalp acupuncture combined with swallowing and speech therapeutic instrument for the treatment of post-stroke dysphagia. Methods Sixty-eight patients with post-stroke dysphagia were randomly divided into treatment group (N = 34)and control group (N = 34). Both groups were given the internal medicine treatment for lowering blood lipids,stabilizing plaque,and nourishing nerves,and took rehabilitation training. And additionally,the treatment group was given scalp acupuncture therapy and the treatment with swallowing and speech therapeutic instrument,and the control group was given the treatment with s wallowing speech therapeutic instrument alone. Two weeks constituted one treatment course, and the two groups were treated for 4 weeks. The scores of Standardized Swallowing Assessment(SSA) and Swallowing Quality of Life Instrument (SWAL-QOL) of the two groups were observed before and after treatment, and then the curative effects were evaluated by Saito 7-grade dysphagia assessment method. Results (1)Till the end of the trial,7 cases of the 68 patients were excluded for transferring to other departments or loss to follow-up. Of the 7 excluded cases, 3 cases were from the treatment group and 4 were from the control group. (2) The total effective rate of the treatment group was 90.32%and that of the control group was 66.67%,the difference being significant(P < 0.05).(3)After treatment,SSA scores of the 2 groups were decreased(P < 0.01)and SWAL-QOL scores were increased (P < 0.01),and the effect on improving SSA scores and SWAL-QOL scores in the treatment group was superior to that in the control group (P < 0.01). Conclusion Both groups can relieve dysphagia and improve the quality of life of post-stroke dysphagia patients,and the scalp acupuncture combined with swallowing and speech therapeutic instrument is more effective for the treatment of post-stroke dysphagia.

Stress distribution on the humeroradial joint after ulnar osteotomy based on finite element analysis and I-Scan Stress Distribution Test system / 中国组织工程研究

BACKGROUND: Ulnar osteotomy is firstly recommended for the therapy of Monteggia fracture in children. But,there is still a lack of biomechanical evidence to confirm its efficacy and safety. OBJECTIVE: To analyze the stress distribution on the humeroradial joint after ulnar osteotomy and to provide evidence for confirming the angular size and mechanism for ulnar osteotomy. METHODS: Nine elbow joints were subjected to different positions of physiological, posterior 15° and posterior 30° osteotomy, followed by loaded at different flexion angles in the neutral, pronation and supination positions, respectively, and then the detailed stress distribution and area in the humeroradial joint were obtained using I-Scan Stress Distribution Test system. One elbow joint was scanned by three-dimensional reconstruction CT and the three-dimensional finite element model was established by ANSYS software. The model was loaded with the same conditions based on the I-Scan Test RESULTS AND CONCLUSION: (1) I-Scan Test system showed that the stress concentration area was in the medial side of humeroradial joint when elbow joint extended after the posterior osteotomy. Following the buckling angle of elbows increased, the area of stress concentration was changed to posterior and stress and contact area of humeroradial joint decreased correspondingly. An increase of stress and decrease of contact area appeared after posterior osteotomy compared with physiological osteotomy. (2) According to the finite element analysis, after posterior 15° and 30° osteotomy, pressure of humeroradial joint concentrated in medial-posterior region and the stress was increased. (3) To conclude, ulnar posterior 30° osteotomy is superior to 15° in reducing the incidence of radial head redislocation of Monteggia fracture, but may induce osteoarthritis of humeroradial joint.

Unicompartmental knee arthroplasty used for advanced spontaneous osteonecrosis of the knee / 中国组织工程研究

BACKGROUND: Unicompartment knee replacement is more popular for small trauma, rapid recovery, low less complications and almost normal knee mechanics, and has been used to repair unicompartmental knee diseases. At abroad, unicompartmental knee arthroplasty for advanced spontaneous osteonecrosis of knee (SONK) has obtained satisfactory outcomes, but its long-term efficacy and safety are not known in China. OBJECTIVE: To explore the short-term effectiveness of unicompartmental knee arthroplasty for advanced SONK. METHODS: Clinical data of 12 SONK patients (12 knees) admitted between January and August 2015 were analyzed retrospectively. Unicompartmental knee arthroplasty was operated by the same surgical team using the 3rdgeneration of Oxford?Unicompartmental Knee. The Visual Analogue Scale, femorotibial angle, range of motion of the knee and Hospital for Special Surgery scores were used to evaluate the curative efficacy at 3, 6, 12, and 18 months postoperatively. RESULTS AND CONCLUSION: (1) All patients were followed up for 12-18 months. The incision in all patients achieved primary union, and no infection, lower limb venous thrombosis or fracture occurred. (2) At the end of follow-up, the Visual Analogue Scale scores were significantly reduced from preoperative (6.67±0.78) to (1.75±0.97); the Hospital for Special Surgery scores were significantly increased from preoperative (63.92±7.27) to (91.67±2.87); the femorotibial angle changed from preoperative (178.28±3.38)° to (176.82±2.37)°(All P < 0.05). But the range of motion of the knee joint did not differ significantly before and after surgery. (3) That is to say, unicompartmental knee arthroplasty obtains satisfactory short-term efficacy in the treatment of advanced SONK.

The review of newborn hearing screening program in neonatal intensive care unit / 临床耳鼻咽喉头颈外科杂志

The incidence of hearing impairment in neonatal intensive care unit (NICU) was much higher than that of well-baby nursery. The incidence of the former was 2%-4%, whereas that of the latter was 0.1%-0.3%. Furthermore, the incidence of auditory neuropathy spectrum disorder, progressive and delayed hearing loss was also higher than those of other infants. Therefore, the newborn hearing screening program in NICU has become an important part of pediatric audiology. In this paper, we reviewed the previous studies and suggested the special procedure of hearing screening and following-up which based on the physiological and pathological characteristics of NICU in order to detect hearing impaired as early as possible.

The Characteristics of Spontaneous Otoacoustic Emissions in Full -term Newborns / 听力学及言语疾病杂志

Objective To analyze the characteristics of spontaneous otoacoustic emission in full-term newbo‐rns .Methods The Capella OAE equipment (Madsen ,Denmark) was used to test Spontaneous Otoacoustic Emission (SOAE) in 147 cases (236ears) who have passed the newborn hearing screening with TEOAE(Transient Evoked Otoacoustic Emissions) .Results The SOAE incidence was 56 .77% (male 41 .51% ,female 69 .23% ;left ear 49 .14% ,right ear 64 .17% ) .It was significantly higher in females (P<0 .05) and in right ear (P<0 .05) .The av‐erage amplitude was 11 .78 ± 8 .36 dB SPL( 11 .73 ± 8 .25 dB in male ,11 .81 ± 8 .43 dB SPL in female;11 .97 ± 8 .56 dB SPL in the left ear ,11 .65 ± 8 .22 dB SPL in the right ear) .There were significant differences in genders(P<0 .01) .The frequency of SOAE focused on 3 .2~ 3 .7 kHz(2 .9~3 .4 kHz in males ,3 .4~3 .9 kHz in females ;3 .2~3 .7 kHz in the left ears ,3 .2~3 .6 kHz in the right ears) .There were significant differences in genders(P<0 .01) .The average peak of SOAE was 3 .70 ± 2 .75(3 .86 ± 2 .87 in males ,3 .62 ± 2 .70 in females;3 .70 ± 3 .02 in the left ears ,3 .70 ± 2 .55 in the right ears) .There were no significant differences in genders and laterality .Conclusion The characteristics of SOAE in full-term newborns include higher incidences ,multiple peaks and high frequency distribution .

Ghrelin Gly90Leu and Ghrelin Receptor Gly57Gly Gene Variants Are Not Associated with Saltiness Intensity Perception and Pleasantness Ratings.

Aims: The salty taste modality is modulated by epithelial sodium channel (ENaC) and Transient Receptor Potential Vanniloid (TRPV1) ionic channel and more recently, the gastric hormone ghrelin and its signaling system are also thought to play a role. Taste perception plays an important role in modulating food preference, and intake and is partly determined by genetic variations in chemoreceptor genes. For the salty taste modality, no studies have yet identified any genetic determinants of salt taste in humans. Nevertheless, a single study has identified that common variations in genes encoding for TRPV1 (TRPV1) and ENaC (SCNN1B) may influence the perception of salt solutions in humans, while it is currently unknown whether it would be the same for ghrelin and its cognate receptor, GHSR. Therefore, the primary objective of this study was to investigate the association of Ghrelin Gly90Leu and GHSR Gly57Gly gene polymorphisms with individual’s saltiness intensity perception and pleasantness ratings. Study Design: A convenience sampling method was practiced in this study. The sampling was carried out among students between the age of 18–25. Place and Duration of Study: Universiti Tunku Abdul Rahman (UTAR), Perak campus between January to December, 2011. Methodology: We recruited 166 Malaysian university students (mean age: 20.33±1.68; 75 males, 91 females; 152 ethnic Chinese, 14 Indians; 113 normal weight, 53 overweight) by convenience sampling. Low and high sodium concentrations of foods, solutions and broths were tasted and rated for their perceived intensity and pleasantness using generalized Labeled Magnitude Scale and Labeled Affective Magnitude scale, respectively. Results: The minor allele frequencies (MAF) of Ghrelin Gly90Leu and GHSR Gly57Gly were 0.48 and 0.31, respectively. Only the perceived intensity of salted egg was significantly different among Ghrelin Gly90Leu genotypes, where the individuals with T318T and A318T genotypes rated the intensity significantly higher than those with the A318A genotype. Conclusion: In conclusion, Ghrelin Gly90Leu and GHSR Gly57Gly SNPs did not serve as markers for individual’s saltiness intensity perception and pleasantness ratings, at least among Malaysian subjects in this study. This suggests that the ghrelin signaling mechanism in modulating salty taste responsivity in inconclusive at the moment, as the positive findings in mice might not be translatable to humans.

A Study of the Intervention of Children with Bilateral Severe Hearing Loss in Countryside of China / 听力学及言语疾病杂志

Objective To investigate the effects of the intervention,rehabilitation and speech development of children with severe hearing loss in some rural areas.Methods 61 children,including 35 males and 26 females,were diagnosed as severe hearing loss with ABR and 40 Hz-AERP from June 2004 to July 2008.All the children failed hearing screening or visited the hospital as outpatients.The ages ranged from 2 to 72 months with the average age of 17.59 months.During telephone follow-up,the questionnaire was used to gather the data regarding the usage of hearing aids,hearing and speech rehabilitation,speech development,and communication abilities.Results 33 (54.10%) children were fitted with hearing aids,and 2 (3.28%) received cochlear implants,while 26(42.62 %) neither had hearing aids nor cochlear implants.10 cases with hearing aids also had speech training,whereas 23 children with hearing aids did not receive the training.2 cases with cochlear implants and 2 cases with hearing aids were found to have good speech development and communication ability,while 31 cases with hearing aids had delayed speech development.26 cases without any devices had to rely on sign language for their commumication.Conclusion Children in rural area with severe hearing loss experience greater speech and communication difficulties because many of them have no access to intervention and speech training.The results suggest that it would be very important to increase public awareness and educate parents to have their children wear hearing aids and receive speech training.

Study on multi-area universal newborn hearing screening in countryside of China / 临床耳鼻咽喉头颈外科杂志

OBJECTIVE@#To investigate the feasibility of universal newborn hearing screening in countryside in order to provide reliable evidence in launching this program all over the countryside of China.@*METHOD@#Subjects were 12,638 infants who were born in 9 counties from Jan 2004 to Dec 2005. TEOAE was used for the fast hearing screening. Infants were screened on the 2-7 days after the birth. The re-screening was conducted in 4-6 weeks if failed in the initial screening, and follow-up were provided continually if they also failed in the re-screening.@*RESULT@#Ten thousand eight hundred and forty-five of 12,638 (85.8%) were screened including 9,963 (91.9%) normal newborns and 882 (8.1%) newborns with high-risk. Seven thousand four hundred and fifty (68.7%) newborns passed the initial screening, and 3,395 (31.3%) people failed. One thousand seven hundred and ninety-three (14.2%) infants were refused to be screened. Only 2,536 (74.7%) were re-screened on time, and 859 (25.3%) did not receive re-screening. One hundred and twenty were failed in the re-screening or first screening, and 79 (65.8%) of them received diagnostic assessment. Among the infants received diagnostic assessment, 6 (7.6%) cases were found to have profound hearing loss in both ears, 9 (11.4%) cases were found to be severe hearing loss (7 in both ears and 2 in single ear), 11 (13.9%) cases were found to be moderate hearing loss (5 in both ear and 6 in single ear), 26 (32.9%) were found to have slight hearing loss (11 in both ear and 15 in single ears), and 27 (34.2%) were normal. Fifty-two infants were diagnosed as hearing loss with a prevalence of congenital hearing loss (in binaural and monaural) of 0.5% (52/10845) and a prevalence of bilateral hearing loss of 0.3% (29/10845). A prevalence of congenital hearing loss was 0.2% (22/9,963) in well infants and 3.4% (30/882) in high risk infants. Among the 13 cases of children with severe and profound hearing loss in both ears children, 8 (61.5%) cases were fitted with hearing aids and 1 (7.7%) case was implanted with cochlear implants.@*CONCLUSION@#It is necessary and feasible to conduct hearing screening program in the rural area. However, the suitable model to perform the program in the countryside needs to be set up as soon as possible in order to get more poor infants to participate into the hearing screening program for free and increase the screening rate.

Study on multi-area universal newborn hearing screening in countryside of China / 临床耳鼻咽喉头颈外科杂志

Objective:To investigate the feasibility of universal newborn hearing screening in countryside in order to provide reliable evidence in launching this program all over the countryside of China. Method:Subjects were 12 638 infants who were born in 9 counties from Jan 2004 to Dec 2005. TEOAE was used for the fast hearing screening. Infants were screened on the 2-7 days after the birth. The re-screening was conducted in 4-6 weeks if failed in the initial screening,and follow-up were provided continually if they also failed in the re-screening. Result; Ten thouand eight hundred and forty-five of 12 638(85. 8%) were screened including 9 963(91. 9%) normal newborns and 882(8. 1%) newborns with high-risk. Seven thouand four hundred and fifty (68. 7%) newborns passed the initial screening, and 3 395 (31. 3%) people failed. One thouand seven hundred and ninty-three (14. 2%) infants were refused to be screened.Only 2 536 (74. 7%) were re-screened on time, and 859(25. 3%) did not receive re-screening. One hundred and twenty were failed in the re-screening or first screening, and 79 (65. 8%)of them received diagnostic assessment. Among the infants received diagnostic assessment, 6(7.6%)ca-ses were found to have profound hearing loss in both ears, 9(11. 4%)cases were found to be severe hearing loss(7 in both ears and 2 in single ear) , 11(13. 9%)cases were found to be moderate hearing loss (5 in both ear and 6 in single ear), 26 (32. 9%) were found to have slight hearing loss (11 in both ear and 15 in single ears), and 27 (34.2%) were normal. Fifty-two infants were diagnosed as hearing loss with a prevalence of congenital hearing loss(in binaural and monaural) of 0. 5%(52/10845)and a prevalence of bilateral hearing loss of 0. 3%(29/10845). A prevalence of congenital hearing loss was 0. 2% (22/9 963) in well infants and 3. 4% (30/882) in high risk infants. Among the 13 cases of children with severe and profound hearing loss in both ears children, 8(61. 5%)cases were fitted with hearing aids and 1 (7. 7%) case was implanted with cochlear implants. Conclusion:It is necessary and feasible to conduct hearing screening program in the rural area. However, the suitable model to perform the program in the countryside needs to be set up as soon as possible in order to get more poor infants to participate into the hearing screening program for free and increase the screening rate.

Infants hearing screening in the coastal villages of Shandong province / 中华耳鼻咽喉头颈外科杂志

<p><b>OBJECTIVE</b>To study how to perform the hearing screening on the infants in the rural area.</p><p><b>METHODS</b>Three thousand nine hundreds and twenty-two infants, about 84% of them from rural, were born in the People Hospital of LaiZhou City from January to December in 2004. The infants were performed fast hearing screening by transient evoked otoacoustic emission (TEOAE) after the birth in 2-7 days. The fail cases were checked again after 4-6 weeks, and then were diagnosed if they still failed after following-up.</p><p><b>RESULTS</b>The infants (3612/3922, 92.1%) have been checked by TEOAE, and the examination was free in the poverty cases. The rate passed on the first check was 69.96% (2527/3922), but 1085 infants failed (30.4%), while 310 infants have not been checked (7.9%). In the 1085 cases that should be rechecked, there was only 633 cases (58.34%) accepted the check on time, while 452 cases (41.66%) missed. In the 163 cases with high-risk infants in 2004, 114 infants (69.96%) were checked, but 49 infants (29.04%) were not checked. Fourteen cases failed in the recheck, and 11 of them were checked by ABR. Two cases were found to be moderate and severe hearing loss in binaural respectively and 4 cases with mild hearing loss in monaural while 3 cases were normal.</p><p><b>CONCLUSIONS</b>It is necessary and viable for the infants on hearing screening in the rural area It should be set up and perfected the model for infants on hearing screening in rural area as soon as possible; it should be free for the poor infants to make sure everyone enjoy the health care.</p>

The clinical significance of the epithelial cellular adhesion molecule(Ep-CAM)expression in esophageal squamous cell carcinoma(SCC) / 肿瘤研究与临床

Objective To evaluate the clinical significance of epithelial cellular adhesion molecule (Ep-CAM)expression in esophageal squamous cell carcinoma(SCC).Methods The Ep-CAM expression was immunohistochemically investigated in 70 normal esophageal mucosas,SCCs and 72 lymph nodes.Results Ep-CAM expression was observed in 94.3% of the tumors,but no expression in the normal mucosa.The Ep- CAM expression was not significantly different between different tumor scales and tumors invading depths,its expression level was relevant with the tumors differentiation and lymph node metastases(P

Audiology and etiology of infants who failed to pass newborn hearing screening / 中国耳鼻咽喉头颈外科

OBJECTIVE To study the audiological and etiological characteristics of infants failed to pass hearing screening. METHODS 126 infants received audiological diagnostic tests,including auditory brainstem response(ABR),40 Hz auditory event related potential(40 Hz AERP),distortion product otoacoustic emissions(DPOAE),tympanometry and acoustic reflex. The degrees and types of the hearing loss,and etiological characteristics were analyzed. RESULTS Among 126 infants (252 ears),61 were diagnosed with sensorineural hearing loss(48.41%),48 were conductive hearing loss(38.09%),and 17 were found to have normal ABR thresholds(13.49%). The hearing loss was associated with various factors,including history of infection during pregnancy(21 cases),threatened abortion(9 cases),pregnancy with age at or over 35(6 cases),extension of pregnancy(7 cases),history of systematic diseases(10 cases),history of neonatal jaundice(13 cases),history of asphyxia and hypoxia(18 cases),premature and low birth weight neonates(8 cases),neonatal diseases (8 cases),family history of deafness(5 cases),craniofacial deformity(3 cases),central nervous system disorder(6 cases),and 9 cases were second child. CONCLUSION The infants who failed to pass hearing screening have various etiology characteristics in hearing loss. The infants associated with risk factors were mostly found to have sensorineural hearing loss.