Analysis of clinical phenotype and genetic variants among four Chinese pedigrees affected with Waardenburg syndrome / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis for four Chinese pedigrees affected with Waardenburg syndrome (WS).@*METHODS@#Four WS probands and their pedigree members who had presented at the First Affiliated Hospital of Zhengzhou University between July 2021 and March 2022 were selected as the study subjects. Proband 1, a 2-year-and-11-month female, had blurred speech for over 2 years. Proband 2, a 10-year-old female, had bilateral hearing loss for 8 years. Proband 3, a 28-year-old male, had right side hearing loss for over 10 years. Proband 4, a 2-year-old male, had left side hearing loss for one year. Clinical data of the four probands and their pedigree members were collected, and auxiliary examinations were carried out. Genomic DNA was extracted from peripheral blood samples and subjected to whole exome sequencing. Candidate variants were verified by Sanger sequencing.@*RESULTS@#Proband 1, with profound bilateral sensorineural hearing loss, blue iris and dystopia canthorum, was found to have harbored a heterozygous c.667C>T (p.Arg223Ter) nonsense variant of the PAX3 gene, which was inherited from her father. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was classified as pathogenic (PVS1+PM2_Supporting+PP4), and the proband was diagnosed with WS type I. Proband 2, with moderate sensorineural hearing loss on the right side and severe sensorineural hearing loss on the left side, has harbored a heterozygous frameshifting c.1018_1022del (p.Val340SerfsTer60) variant of the SOX10 gene. Neither of her parents has harbored the same variant. Based on the ACMG guidelines, it was classified as pathogenic (PVS1+PM2_Supporting+PP4+PM6), and the proband was diagnosed with WS type II. Proband 3, with profound sensorineural hearing loss on the right side, has harbored a heterozygous c.23delC (p.Ser8TrpfsTer5) frameshifting variant of the SOX10 gene. Based on the ACMG guidelines, it was classified as pathogenic (PVS1+PM2_Supporting+PP4), and the proband was diagnosed with WS type II. Proband 4, with profound sensorineural hearing loss on the left side, has harbored a heterozygous c.7G>T (p.Glu3Ter) nonsense variant of the MITF gene which was inherited from his mother. Based on the ACMG guidelines, the variant was classified as pathogenic (PVS1+PM2_Supporting+PP4), and the proband was diagnosed with WS type II.@*CONCLUSION@#By genetic testing, the four probands were all diagnosed with WS. Above finding has facilitated molecular diagnosis and genetic counseling for their pedigrees.

Analysis of clinical characteristic of the middle ear malformation with cholesteatoma / 中华显微外科杂志

Objective To discuss the clinical characteristic of middle ear malformation with cholesteatoma.Methods From September,2011 to November,2016,23 cases of middle ear malformation with cholesteatoma were collected.Their symptoms,ENT examination,temporal bone high resolution computed tomography (HRCT) and intraoperative findings were analyzed.Results All 23 patients had hearing loss.90.0％ patients had ear discharge and tinnitus.86.96％ patients had perforation in pars flaccida of tympanic membrane.95.7％ patients had poor mastoid gasification.73.9％ patients had undeveloped or dysplastic tympanic antrum.100％ patients had destruction of the ossicular chain.56.5％ patients had malformation of the ossicular chain.52.2％ patients had exposed facial nerve.30.4％ patients had hyperplasia of the attic bone.Conclusion The symptoms and physical examinations of middle ear malformation with cholesteatoma are the same as middle ear cholesteatoma.Poor mastoid gasification can usually be detected on temporal bone HRCT.The most common malformation is dysplastic tympanic antrum,followed by malformation of the ossicular chain,exposed facial nerve and hyperplasia of the attic bone.Temporal bone HRCT can indicate the malformation and destruction quite well.

The Outcomes of Domestic Cochlear Implants In Prelingually Deaf Children / 听力学及言语疾病杂志

Objective To investigate the development of auditory and speech skills and the safety and stability among the prelingually deaf children with Nurotron Venus cochlear implants.Methods A total of 78 cochlear implant subjects were recruited from the first of affiliated hospital of Zhengzhou university.They were divided into 5 groups according to the ages at the time of implantation: group A(between 13 and 24 months), group B(between 25 and 36 months),group C(between 37 and 48 months),group D(between 49 and 72 months),group E(between 73 and 96 months).Children were evaluated by IT-MAIS(group A and B) and MAIS(group C,D and E) before the surgery and 1 month,3 months,6 months, and 12 months after surgery.All children were evaluated by MUSS questionnaires 1 months, 3 months,6 months,and 12 months after surgery.Post-operative cochlear radiographs determine the position of the CIs.The complications and usage of The CIs were followed up.Results The auditory and speech ability of children with CIs improved constantly.The auditory and speech of different groups were statistically significant.All the surgeries of 78 cases Nurotron-Venus cochlear implants were successful.Post-operative cochlear radiographs showed electrodes in the normal position.2 cases had processor failures.The remaining CIs were implanted completely.Conclusion Within 1 year, the ability of auditory and speech improved gradually.The scores of auditory and speech about the small age groups are lower than older children in the early days.There is no influence on the audition in 12 months.Small children's scores of speech are lower than older children in 12 months.The better ability to integrate auditory information is , the better the ability to speak is.The Nurotron CIs work safety and effectively.

Prediction of round window visibility in cochlear implantation with temporal bone high resolution computed tomography / 中华耳鼻咽喉头颈外科杂志

Objective@#To discuss the prediction of round window(RW) visibility in cochlear implantation(CI) with temporal bone high resolution computed tomography(HRCT).@*Methods@#From January 2013 to January 2017, 130 cases underwent both HRCT and CI in our hospital were analyzed. The distance from facial nerve to posterior canal wall(FWD), the angle between facial nerve and inner margin of round window(FRA), and the angle between facial nerve and tympanic anulus to inner margin of round window(FRAA) were detected at the level of round window on axial temporal bone HRCT. A line parallel to the posterior wall of ear canal was drawn from the anterior wall of facial nerve at the level of round window on axial temporal bone HRCT and its relationship with round window was detected (facial-round window line, FRL): type0-posterior to the round window, type1-between the round window, type2-anterior to the round window. Their(FWD, FRA, FRAA, FRL) relationships with intra-operative round window visibility were analyzed by SPSS 17.0 software.@*Results@#FWD(F=18.76, P=0.00), FRA(F=34.57, P=0.00), FRAA (F=14.24, P=0.00) could affect the intra-operative RW visibility significantly. RW could be exposed completely during CI when preoperative HRCT showing type0 FRL. RW might be partly exposed and not exposed when preoperative HRCT showing type1 and type2 FRL respectively.@*Conclusion@#FWD, FRA, FRAA and FRL of temporal bone HRCT can predict intra-operative round window visibility effectively in CI surgery.

Possible reasons for cerebrospinal fluid gusher in cochlear implantation with inner ear abnormality / 中华耳鼻咽喉头颈外科杂志

Objective@#To discuss the possible reasons for cerebrospinal fluid (CSF) gusher in cochlear implantation (CI) with inner ear abnormality.@*Method@#A retrospective analysis was performed on 340 cases who underwent CI from January 2013 to December 2016 in Division of Otology, Otorhinolaryngology Hospital, the First Affiliated Hospital of Zhengzhou University. Among them, 96 cases had inner ear abnormalities. Imaging examinations were performed on these patients, and classification of inner ear malformation was done according to the results.@*Results@#Among the cases with inner ear abnormality, 9.4% (9/96) suffered from CSF gusher during CI. The inner ear abnormalities were found to be as follows: 3 cases had incomplete partition type Ⅰ; 1 case had incomplete partition type Ⅰ with semicircular canal dysplasia; 1 case had common cavity deformity; 1 case had enlarged vestibular aqueducts and common cavity deformity; 2 cases had Mondini deformity. All of these cases had bony defect in the fundus of the internal acoustic meatus observed on CT scans. Another case was type 1 cochlear aqueduct with round window aplasia.@*Conclusions@#Defects in the modiolus or fundus of the internal acoustic meatus is the main reason for CSF gusher during CI. A patent cochlear aqueduct is another possible reason.

Clinical Features and Therapeutic Effects of Vestibular Paroxysmia / 听力学及言语疾病杂志

Objective To investigate the clinical features and the therapeutic effects in patients with vestibu-lar paroxysmia(VP) .Methods A total of 32 patients with VP were analyzed retrospectively through pure -tone au-diometry (PTA) ,auditory brainstem response(ABR) ,magnetic resonance imaging (MRI) ,and vestibular function . The effects were assessed after 3 months treatment of carbamazepine (CBZ) or oxcarbazepine (OXA) .Results The main clinical symptom of 32 patients was a brief spell of vertigo ,and 75% of patient's attacks were regularly precipi-tated by certain head positions or position changes .The most common accompanying symptom was unsteadiness of stance or gait (75 .00% ) .The PTA thresholds were elevated in 11 patients (34 .38% ) .MRI in all patients showed neurovascular cross -compression(NVCC) .Among 30 patients who performed ABR tests ,24 (80 .00% ) were ab-normal and 19 patients (63 .33% )were found that the interpeak latency (IPL) of wave I-III( IPL I-III) prolonged more than 2 .2 ms .The course of the patients with IPL I -III prolonged was relatively longer (P=0 .231) ,but there was no significantly difference .All patients received carbamazepine (CBZ) or oxcarbazepine (OXA) for one month .One case was lost to follow -up ,4 had no symptom improvement and 27 had a significant reduction in the attack frequency and intensity respectively after treatment of one month ,two months ,three months and 6 months of the drug withdrawal ,compared with the previous (P<0 .05) .The level of vertigo was significantly improved(P<0 .05) .Conclusion Episodic spells of vertigo are the main clinical symptom of VP ,regularly caused by certain head positions or position changes .The NVCC can be found by MRI in all patients .The IPL I -III in ABR was pro-longed in most patients ,some of them have hearing loss .CBZ and OXA are effective with VP and also significant in the experimental treatment of diagnosis .

Clinical Features and Treatment of Tympanic Membrane Atelectasis / 听力学及言语疾病杂志

Objective To investigate the clinical characteristics of the tympanic membrane atelectasis and treatment methods ,and to provide a reference value for future clinical diagnosis and treatment .Methods A retro‐spective analysis of 86 patients(104 ears) with tympanic membrane atelectasis treated in our hospital from June 2011 to August 2013 .Disease severity was classified according to the erasmus classification of atelectasis by Sade ,and pre- and post -operative air -bone gaps (ABG) were compared .Results There was no statistical difference of mastoid gasification on CT scan between mild and sever tympanic membrane atelectasis (P>0 .05) .While the sta‐tistical difference was found in two groups of whether there were soft tissues in middle ear and mastoid cavity on CT scan(P<0 .05) .There was an improvement in the average ABG for all stages .Conclusion This study demonstrated that surgical intervention had a favorable effect on hearing level across all stages .The treatment of atelectatic ears should be taken and individualized .

Clinical analysis of ten cases of congenital middle ear cholesteatoma / 临床耳鼻咽喉头颈外科杂志

OBJECTIVE@#To investigate the clinical features and operation treatment of the congenital middle ear cholesteatoma.@*METHOD@#A retrospective review of clinical and surgical records of 10 patients with congenital middle ear cholesteatoma were performed. All patients were treated by surgeries,5 of 10 cases deal with one-stage tympanoplasty after drum exploration by external auditory meatus, 3 cases dealed with closed mastoidotympanectomy and tympanomastoidectomy, 2 cases dealed with open mastoidotympanectomy and tympanomastoidectomy.@*RESULT@#The cholesteatomas were located at or around the posterior tympanum or mesotympanum in 5 patients, confined to the tympanic cavity and attic in 3 patients, advanced cholesteatoma that extended from the tympanic cavity into the mastoid antrum was seen in 2 patients. The mean postoperative PTA was 30 dB HL, the mean ABG was within 20 dB, after six months. No residual or recurrence of cholesteatoma was found.@*CONCLUSION@#The congenital cholesteatoma often originates from the posterior or anterior of the middle ear, with hiding lesion, thus result in severe conductive hearing loss. Imaging examination plays an important role in diagnosing and treating of congenital cholesteatoma. Early stage surgical treatment can obtain a good hearing reconstruction effect.

Myringotomy with Grommet Insertion for Treatment of Tympanic Membrane / 听力学及言语疾病杂志

Objective To evaluate the efficacy of myringotomy with grommet insertion in the treatment of tympanic membrane atelectasis .Methods From July 2011 to July 2013 ,62 patient with tympanic membrane atelecta-sis were treated with myringotomy with grommet insertion in our hospital ,we evaluated 54 patients(56 ears)whose follow -up period was 1 year or more .Of the 54 patients included in this study ,28 (30 ears))were female and 26(26 ears)were male .The age of the patients ranged from 8 to 54 ,with a mean age of 25 .8 ± 6 .6 years old ,and 18 pa-tients (32% ) were under the age of 16 .The air -bone gap(ABG)was compared at pre -operation and 1 year after post-operation .Results The average ABG of pre-operation and post -operation ,including all patients ,were 27 . 07 ± 5 .03 dB and 15 .52 ± 5 .73 dB ,respectively (P<0 .05) ,and the difference was statistically significant .All the 3 groups ,the ABG of pre- and post-operation ,the difference of each group was statistically significant .Conclusion Myringotomy with grommet insertion was effective in treating tympanic membrane atelectasis .

Stereoselective HPLC assay of TJ0711 enantiomers by precolumn derivatization with GITC using UV detection and its application in pharmacokinetics in rats / 华中科技大学学报（医学）（英德文版）

This investigation describes a new precise, sensitive and accurate stereoselective RP-HPLC method for determination of the enantiomers of a novel alpha- and beta-receptor blocking agent, 1-[4-(2-methoxyethyl) phenoxy]-3-[[2-(2- methoxyphenoxy) ethyl]amino]-2-propanol (TJ0711), in rat plasma. GITC was used for precolumn derivatization of TJ0711 enantiomers. Enantiomeric resolution was achieved on a Eurospher-100 C18 column (250 mmx4.6 mm ID, 5-mum particle size), with UV detection at 255 nm, and the mobile phase consisted of acetonitrile and water (58:42, v/v) containing 0.02% glacial acetic acid (v/v). Using the chromatographic conditions described, TJ0711 enantiomers were well resolved with mean retention time of 10.2 and 11.5 min, respectively. Linear response (r>0.999) was observed over the range of 0.125-12.5 mug/mL of TJ0711 hydrochloride enantiomers. The mean relative standard deviation (RSD%) of the results of within-day precision was [Symbol: see text] 10%. The proposed method was found to be suitable and accurate for the quantitative determination of TJ0711 enantiomers in rat plasma, and it can be used in pharmacokinetic studies.

Studies relationship between powder characteristic of kinds of granules and their hygroscopicity / 中国中药杂志

<p><b>OBJECTIVE</b>To choose the granuling way for preparing granules that had low moisture-absorption characteristics.</p><p><b>METHOD</b>Granules were prepared by five ways, for studying the relationship between characteristics of powder and hygroscopicity were determined.</p><p><b>RESULT</b>The prepared ways of granuling that had low hygroscopicity were dry granuling and secondary swinging granuling.</p><p><b>CONCLUSION</b>The hygroscopicity of granules can be explained by characteristics of powder, which are made in different granuling ways. The prepared ways of granuling that have low hygroscopicity are dry granuling and secondary swinging granuling.</p>

Heart sound measurement and analysis system with a stethoscope / 生物医学工程学杂志

This paper is composed with the cardiac sound measurement and analysis system for in-home use of heart abnormality monitoring. The heart sound acquiring system is composed of a traditional chest-piece, earphone, microphone, and IC recorder. The recorded data is transmitted to a computer by USB interface for analysis based on the cardiac sound characteristic waveform (CSCW) method, which is extracted from an analytical model of single degree-of-freedom (SDOF). Furthermore, the characteristic parameters [T1, T2, T11, T12] are defined by the time intervals between the crossed points of the CSCW and a threshold value (THV), which are related to the first sound and the second sound and are used for discriminating normal and abnormal heart sounds. Also, an easy-understanding graphical representation for these parameters is considered, so that, even for an inexperienced user, he or she is able to monitor his or her cardiac status easily. Finally, a case study on the abnormal/normal cardiac sounds is demonstrated to validate the usefulness and efficiency of this proposed system and the cardiac sound characteristic waveform method.

HPLC Determination of Magnolin in Xuetie Dingchuan Plaster / 中药新药与临床药理

Objective To establish a HPLC method for the determination of magnolin in Xuetie Dingchuan Plaster.Methods The HPLC chromatographic condition was as follows: the analytical column was Lichrospher C8(4.6mm?250mm,5?m),the mobile phase consisted of A(acetonitrile)∶B(1.55%tetrahydrof uran-water) 34∶66,the flow rate was 1.0 mL?min-1,the detected wav elength was 278 nm,and the column temperature was 30 ℃.Results The calibr ation curve was linear(r=0.9999) in the range of 0.42～ 5.25 ?g for magnolin,the average recovery of the method was 100.50 %,with RSD 2.22 %(n=9).Conclusion The method is accurate,simple and stable,and can be used for the quality control of Xuetie Dingchuan Plaster.